cases
listlengths 1
37
| article_id
stringlengths 8
11
|
|---|---|
[
{
"age": 74,
"case_id": "PMC10687451_01",
"case_text": "A 74-year-old man presented to the emergency department with complaints of acute right-sided leg swelling, redness, and generalized discomfort. He reported that his symptoms progressively worsened over the course of 4 days and now involved the entirety of his right leg with moderate involvement of his left leg as well. He denied any recent surgical interventions, extended travels, or periods of immobility. The patient did have a history significant for a prior deep venous thrombosis and a hypercoagulable state in the setting of myelodysplastic syndrome and Factor V Leiden. For this, he was undergoing outpatient hematology and was on chronic anticoagulation. His anticoagulation was recently discontinued in preparation for an outpatient colonoscopy.\nOn initial evaluation, a bilateral venous duplex study was performed, which revealed thrombosis throughout the bilateral lower superficial and deep systems. A computed tomography angiography (CTA) showed compression at the bifurcation of the iliac veins due to the presence of a large 3.1 cm x 2.9 cm right CIA aneurysm, as illustrated in Figure 1. Further investigation was sought with invasive maneuvers, as discussed in management.\nThe patient was taken to the catheterization laboratory where a venography revealed a significant area of overlying mobile lucency that appeared to be above the venous confluence, as illustrated in Figures 2A,B. An intravenous ultrasound (IVUS) demonstrated a pulsatile external compression of the bilateral CIV. This confirmed suspicions that an overlying CIA aneurysm was the source of hemodynamic compromise, resulting in the significant DVT burden downstream.\nIn the setting of two areas of concern, the acute bilateral symptomatic DVTs and the right iliac artery aneurysm, immediate intervention was deemed necessary. Vascular surgeons were consulted for possible surgery; however, the patient was not considered an operable candidate. Instead, they advised interventional cardiology evaluation for endovascular therapy. After a thorough review of the case, an interventional approach was formulated that involved addressing the thrombosed venous system with plans for staged common iliac artery intervention.\nThe first stage involved a prone ascending venography from the popliteal veins bilaterally with IVUS. Bilateral femoral access with a 10 French sheath was obtained. A 0.035\" glide catheter was used to cross into the intravenous catheter (IVC). A standard Philips IVUS 0.035\" catheter was prepped and pullbacks were performed from the IVC into both femoral veins. We then used the Inari ClotTriever (Inari Medical, Irvine, CA, USA) to perform a mechanical thrombectomy of the right and left lower extremities from the bilateral CIV to the popliteal vein. Copious amounts of acute thrombus were extracted, and post-intervention venography and IVUS confirmed adequate debulking of the thrombotic burden. IVUS was then used again bilaterally to visualize and measure stent sizing. To prevent continued compression, we elected to place bilateral kissing venous stents using IVUS guidance with bilateral 16 mm x 120 mm VICI (Boston Scientific, Marlborough, MA, USA), right-sided 16 mm x 90 mm VICI, and left-sided 16 mm x 90 mm Wallstent (Boston Scientific, Marlborough, MA, USA), as shown in Figure 2C. At the time, the VICI stent was relatively new, and given our limited experience as well as the questionable ability to use the stent across the inguinal ligament, we opted for a two-stent approach on the left with VICI at the confluence and Wallstent at the femoral head, to avoid stent fracture. There were no post-procedural complications, with a visible relief from symptoms. The patient was discharged on therapeutic anticoagulation, compression stockings, and close outpatient follow-up.\nFollow-up imaging 6 months later demonstrated an increase in the size of the right CIA aneurysm (Figures 3B,C). Therefore, the patient was taken for a staged intervention of the aneurysm with the placement of covered iliac stents using a 13.5 mm Fluency self-expanding (Bard Peripheral Vascular, Tempe, AZ, USA) and 10 mm iCast stents (Atrium, Hudson, NH, USA) in overlapping fashion from the ostium of the right CIA to the bifurcation of the internal-external iliac arteries. These stents were chosen due to sizing availability at the time over the traditional EVAR limb. The Fluency stent was initially used as it would result in adequate coverage without an obvious endothelial leak. Once the covered stent was placed in the proximal CIA, we proceeded with placing a 1:1-sized iCAST stent to ensure appropriate coverage of the aneurysmal segment. Follow-up CTA demonstrated a regression and thrombosis of the aneurysm and patent, well-aligned venous stents, Figure 3D. The near resorption of the native aneurysm sac can be discerned from Figures 4A,B. Because of the placement of the stents and resumption of anticoagulation, the patient has had no further reoccurrences of DVTs or other related symptoms.\nMTS is often underdiagnosed, acting insidiously until realized late into its pathologic findings. This, in part, is due to the various etiologies and resultant manifestations. Of these, numerous arterial causes exist, including the involvement of the native artery, arterial variants, iliac artery stent, or other endovascular stent graft, abdominal aortic, or iliac artery aneurysms:further denoted by right- or left-sided involvement, of which the right CIA is often the culprit. MTS secondary to CIA aneurysms is a relatively rare phenomenon and typically found only incidentally. Large aneurysms may predispose the individual to compression of surrounding structures, arterial thrombosis, or thromboembolism and rupture; however, venous disease is a rare manifestation of these aneurysms. Regardless, a few case reports exist in the literature describing the effects of right CIA aneurysm resulting in left CIV compression with associated DVTs.\nVenous symptomatology is contingent upon the degree of obstruction, anatomical involvement, and absence of any collaterals to supplement efficient flow. If venous hemodynamics are acutely compromised, the affected limb may present with unilateral heaviness, swelling and venous claudication, and acute thrombosis, which may lead to phlegmasia cerulea dolens or phlegmasia alba dolens, requiring urgent intervention. Chronically, the patient may develop chronic venous insufficiency leading to DVTs, leg pigmentation, or venous ulcers if left untreated, post-thrombotic syndrome.\nAlthough a vast majority of MTS presentations are clinically silent, thrombotic events may precipitate if transient risk factors or external stressors are present. Such factors include surgery, prolonged immobility, or a hypercoagulable state especially in the setting of underlying malignancy or with the initiation of oral contraceptives. In our case, the history of the hypercoagulable state and cessation of anticoagulation likely produced the perfect milieu for the compressive aneurysm to result in venous flow stagnation and thrombosis. Once identified, treatment is focused on improving venous outflow through the affected limb. Anticoagulation is initiated until the clot burden and extent of MTS can be assessed.\nThe CaVenT and a subgroup analysis of the ATTRACT trial demonstrated that catheter-directed thrombolysis, along with anticoagulation, has been deemed superior to just anticoagulation alone, particularly in extensive iliofemoral DVTs. A 5-year follow-up of the CaVenT cohort continued to show increased clinical benefits in addressing disease severity. Current guidelines from the American Society of Hematology, American College of Chest Physicians, and American Heart Association do not support routine thrombolytic therapy and recommend anticoagulation alone in acute DVT, regardless of burden. However, in extensive and symptomatic thrombus refractory to or with contraindications to anticoagulation, mechanical thrombectomy can be used in adjunct to assist with reducing clot burden. In such cases of acute thrombosis, patients should undergo various optional percutaneous procedures (including thrombectomy or thrombolysis) followed by endovascular stent placement if indicated, as per the recommendations of the Society of Interventional Radiology and Society of Vascular Surgery. With regard to venous stenting, the ABRE study evaluated Abre venous stent use and demonstrated an overall 1-year primary patency of 88% and a 1-year primary assisted and secondary patency of 92.9%. Another study looked at the long-term clinical outcomes of Wallstent and found a primary patency of 89% and a primary assisted patency and secondary patency of 95% at 6 years.\nAs mentioned previously, numerous arterial etiologies have been attributed to MTS, including the CIA. Current recommendations for iliac artery aneurysms suggest treatment if symptomatic, for an aneurysm size of 3.5 cm with an increased risk for rupture, or for rapid aneurysmal expansion. Endovascular first-year and third-year primary graft patency rates are 97%. Although there are no benefits in terms of primary artery patency or mortality rate, the endovascular approach is preferred over the open vascular one due to decreased perioperative morbidity, operative time, and hospital stay. The other advantages include avoidance of operative complications such as sympathetic and parasympathetic nerve damage or disruption of lymphatics. As such, we opted for a completely percutaneous treatment modality over open surgical repair. Following endovascular repair, lifelong surveillance is required to assess stent patency or migration and monitor for endoleaks and aneurysmal diameter changes.\nIn our case, the initial aneurysmal size did not meet the repair threshold despite the symptomatic presentation. We addressed the acute concern that pertained to the venous system, by means of mechanical thrombectomy and venous stenting. Although the right CIA appeared to be the obvious culprit, a question arose as to how symptomatic the aneurysm was now that a venous stent was placed to ensure architectural integrity, with the possibility of averting arterial intervention. Given the size of the aneurysm, improvement post-venous intervention, and along with patient preference, a conservative approach was adopted with standard serial imaging done every 6 months. Unfortunately, the aneurysm demonstrated interval growth, necessitating arterial intervention with an arterial stent, the outcome of which was successful.",
"gender": "Male"
}
] |
PMC10687451
|
[
{
"age": 26,
"case_id": "PMC10617790_01",
"case_text": "A 26-year-old male was admitted to the hospital for evaluation of dizziness and headaches for 10 days that was aggravated by diplopia for 2 days. He had a history of Kimura disease 4 years before the onset of the current symptoms. He had taken prednisone acetate orally for 1 year (starting at 30 mg/day and gradually decreasing). The physical examination showed limited abduction of the eyes with the right side being dominant, diplopia, and neck rigidity There are no abnormalities in the heart, lungs and abdomen, the muscle strength of the limbs is normal, the nervous position is negative, there are no disorders of consciousness, movement, sensation or small brain defects. Serologic testing showed a normal white blood cell count (3.9x109/L; eosinophils, 0.5x109/L) and a normal rheumatic profile. The cranial MRI did not reveal any significant abnormalities. A lumbar puncture was significant for an elevated cerebrospinal fluid (CSF) opening pressure >330 mmH2O, an increased white blood cell count (690x106/L), decreased glucose (1.54 mmol/L), and elevated cerebrospinal fluid protein (0.56 g/L). Cerebrospinal fluid cultures were negative. To identify the pathogen, CSF mNGS was performed and only C. albicans was detected (sequencing reads 954). Combining the clinical symptoms, signs, and CSF positive for C. albicans, the diagnosis of Candida meningitis was evident.\nIn this case, the patient had mild disease and a history of Kimura disease. Due to the patient's concern about the increased risk of nephrotoxicity with amphotericin B and the sensitivity of the CSF culture to fluconazole, treatment was initiated with fluconazole alone (800 mg daily), as recommended by the treatment guidelines. The symptoms gradually improved after 1 month of antifungal treatment, and the results of the repeat lumbar puncture showed that the CSF opening pressure, white blood cell count, and biochemical indices were improved, in agreement with the clinical symptoms; however, mNGS of the CSF during the same period showed a significantly higher sequencing reads of C. albicans (sequencing reads 8141). Six months after the original dose of fluconazole treatment, mNGS showed that the sequencing reads of C. albicans was decreased (sequencing reads 743). The oral fluconazole treatment was continued for 1 year without recurrent symptoms, then the fluconazole was discontinued. One month after stopping the fluconazole, fevers and headaches recurred, a lumbar puncture showed an elevated CSF opening pressure >330 mmH2O, the white blood cell count increased to 450x106/L, the glucose concentration decreased to 0.36 mmol/L, and the protein content increased to 1.02 g/L. Moreover, CSF mNGS showed that the C. albicans sequencing reads increased (sequencing reads 1178), thus recurrence was considered. The patient was administered 800 mg of fluconazole daily. After 2 weeks, the clinical symptoms improved slightly, and the biochemical characteristics of CSF were slowly restored; the CSF glucose level changed from 0.36 mmol/L to 0.48 mmol/L. Considering the ineffective treatment by fluconazole, the patient finally received antifungal treatment with ABCD combined with fluconazole due to the unavailability of flucytosine. After 5 days of ABCD treatment, the CSF glucose level increased (2.46 mmol/L), and after 2 weeks the clinical symptoms and CSF examination improved significantly. The CSF glucose level returned to normal (4.11 mmol/L). No adverse effects, such as renal injury and hypokalemia, occurred during the treatment period, and the patient was discharged after 1 month of induction phase ABCD treatment. There was no recurrence at the 6-month follow-up evaluation.",
"gender": "Male"
}
] |
PMC10617790
|
[
{
"age": 22,
"case_id": "PMC10749176_01",
"case_text": "A 22-year-old man presents with generalized asymptomatic erythematous papules and plaques with scales, as well as nodular and nodulo-ulcerative lesions on the trunk, both arms, and both legs. The lesions initially appeared as asymptomatic guttate erythematous macules and papules with scales on both arms and legs, whereas both palms and soles were spared. The lesions then spread progressively within three months, some of which evolved to nummular erythematous macules, papules, and nodular lesions. Lesions evolve slowly without abrupt changes. No prodromal symptoms or adenopathy were present prior to the eruption of skin lesions. There was also no previous history of solitary asymptomatic genital ulcers. The patient underwent voluntary counseling and testing for HIV in a primary care facility following his previous history of high-risk sexual behavior as an MSM with multiple sexual partners, and previous history of sexual contact as a receptive partner without the use of condoms. His anti-HIV test was reactive, with a CD4 cell count of 388 cells/muL, but other sexually transmitted infection was not ruled out. The patient had already started his antiretroviral therapy for two months during the evolution of the skin lesions. One month prior to his referral to our clinic, some of the lesions remained in the form of erythematous papules and plaques with scales, nodular lesions, and ulcerated nodular lesions.\nPhysical examination revealed multiple erythematous papules and plaques with scales, as well as nodular and nodulo-ulcerative lesions on the trunk, both arms, and both legs (Figures 1A-D). Erythematous plaques and nodules with scales were mostly found on his extremities (Figure 1E). Nodulo-ulcerative lesions (Figure 1F) were found on his extremities and back. Other lesions, such as erythematous macules and plaques with scales (Figure 1G), erythematous papules, and nodular lesions are generalized. No genital ulcers were seen on physical examination. Vital signs and neurological examination were within normal limits. Venereal disease research laboratories (VDRL) and Treponema pallidum hemagglutination assay (TPHA) examinations were conducted to screen for syphilis, revealing reactive results with a titer of 1:256 for VDRL and 1:10,240 for TPHA. Cerebrospinal fluid examination for screening of neurosyphilis revealed clear fluid, non-reactive to VDRL, glucose level of 44 mg/dL, and total protein level of 45 mg/dL. Excisional biopsy was performed from the nodulo-ulcerative lesions on the back. Histopathological examination with hematoxylin-eosin staining shows hyperplastic epidermis, a massive influx of plasma cells around fibrous connective tissue in the dermis, as well as peri-adnexal, peri-vascular, and peri-muscular lymphocytic infiltration into the deep dermis (Figure 2A and B). \nA diagnosis of secondary syphilis was established based on clinical manifestations, serological test results, and histopathological examination. According to CDC guidelines for secondary syphilis, we administered a single-dose intramuscular injection of 2.4 million units of benzathine penicillin G. Most of the lesions evolved to form hyperpigmented macules without scar formation at two weeks following treatment (Figure 3A-G). A large nodulo-ulcerative lesion on the left wrist (Figure 4A) regressed after two weeks (Figure 4B), and evolved to form a hyperpigmented macule without scar formation at one month (Figure 4C). His VDRL titer also declined to 1:32 at the third month of follow-up. After a 1-year of observation, his VDRL titer remained at 1:32. There was no suspected promiscuity, and no new skin lesions were seen during the observation period of one year.",
"gender": "Male"
}
] |
PMC10749176
|
[
{
"age": 29,
"case_id": "PMC11002081_01",
"case_text": "A 29-year-old woman underwent progressive worsening headaches and difficulty swallowing, then she was admitted to a local hospital. Her laryngoscopy was normal and the gastroscope showed chronic superficial gastritis. Despite receiving symptomatic treatment and being diagnosed with \"vascular headache\" based on two normal brain CT scans, the patient's condition did not improve. Two weeks later, the patient was admitted to our hospital's neurology department, and her clinical course is detailed in Figure 1 . A neurological examination revealed a positive kernig sign, stiff neck, absent pharyngeal reflex, poor soft palate elevation, and water swallow test level III. The patient has a 6-year-old son and was pregnant again 1 year ago but induced abortion due to fetal death at 16 weeks of gestation. The cerebrospinal fluid (CSF) was colorless and transparent, with a pressure of 400+ mmH2O. CSF analysis revealed the following: karyocytes, 2/muL; red cells, 0/muL; protein, 0.329 g/L (normal range, 0.150-0.450 g/L); glucose, 4.8 mmol/L (normal range, 2.5-4.5 mmol/L); and chloride, 114 mmol/L (normal range, 120-132 mmol/L). No abnormalities were detected in the blood samples aside from high cholesterol levels. A cranial magnetic resonance imaging (MRI) showed space-occupying lesions in the medulla oblongata ( Figures 2A, B ), ultrasound scans revealed multicentric renal cysts in both kidneys, and a cystic solid mixed density mass in the pancreas was later identified as PanNENs through enhanced CT ( Figures 2C, D ), chest radiograph shows thickened pleura, and Sanger sequencing identified a heterozygous mutation site in the VHL gene, leading to a diagnosis of VHL syndrome. The patient underwent Ommaya implantation for the first time in Huashan Hospital Affiliated with Fudan University in 2006, then underwent craniotomy for tumor resection 2 weeks later. 2 masses were resected in the dorsal medulla oblongata and C1 segment of the cervical cord, measured 3x3x1cm, 2x2x1cm, respectively. The histopathological results of the tumor: purplish-brown tissue as seen by the naked eye. Microscopically, foam cells were seen dispersed between CD34, SMA immunolabelled positive vascular tufts, scattered KP1 and LCA positive cells with GFAP positive gliosis at the margins, the pathological diagnosis was hemangioblastoma. She was diagnosed with renal occupancy in 2008 and underwent resection of the target lesion, which was confirmed as RCC by postoperative pathology ( Figures 3A, B ). In 2015, she developed neck pain, weakness of the right limb, and urinary and fecal disorders, then multiple occupying lesions were detected by spinal cord MRI ( Figure 2E ), and a total of 3 masses in C1, C2-3, and C6-7 were surgically resected, measured 2x1x2mm, 3x2x4mm, 2x1.5x1.0mm, respectively. Pathological findings were considered a HBs, homologous with medulla oblongata occupancy. In 2021, the patient suffered dizziness, headache, and unsteady gait again, and imaging revealed space-occupying lesions in the right cerebellar hemisphere, junction of the medulla oblongata and cervical medulla ( Figures 2F-H ), 3 masses were surgically resected, measured 2.5x2x2cm, 1.5x1x1.5cm, 5x6x2mm, which were confirmed to be HBs by postoperative pathology. Up to now, the patient survived without significant discomfort and possessed a complete social function.\nThe patient's maternal grandparents are related as cousins (I 1 and I 2). Her maternal grandfather died at the age of 40 due to severe headaches. In 1987, her mother(II 2) experienced numbness in her left hand and unstable walking, but she did not seek medical attention. Later, she suffered from blindness in her left eye. In 2020, the patient's mother was diagnosed with a \"hemangioma\" in the thoracic medulla by post-surgical pathology ( Figures 3C, D ), which occupied the T8-T10 region, resulting in bilateral lower limb paraplegia and urinary and fecal disorders. The patient's maternal aunt (II 3) was diagnosed with both \"renal cyst\" and \"pancreatic cyst\" and underwent a nephrectomy on the left side in her forties. After obtaining consent from the patient and other family members, peripheral blood samples were collected from a total of eight individuals, including the patient, her mother, her son, her brothers and sister, and her three nephews, for VHL gene testing, the family lineage chart is available in Supplementary Material 1 . Additionally, 187 individuals from the healthy population were selected as normal controls for VHL gene testing. The polymerase chain reaction was employed to amplify the VHL gene exons from genomic DNA, with primer pairs listed in Table 1 .\nTo confirm the presence of any mutations in the VHL gene, Sanger DNA sequencing was utilized, with each exon analyzed using forward and reverse analysis. Our findings revealed a missense mutation c.353T > C on exon 2 of the short arm in chromosome 3 of the patient. This specific mutation leads to the replacement of leucine with proline at amino acid 118 of the encoded protein, which may primarily account for the VHL syndrome that occurred in the proband ( Figure 4 ). Our results indicated that this mutation was also present in the patient's mother and son. However, this mutation was not detected in other family members and the 187 healthy controls.",
"gender": "Female"
},
{
"age": 23,
"case_id": "PMC11002081_02",
"case_text": "17 years follow-up was conducted in the family. Despite the multi-organ involvement and several relapses during the disease, early and aggressive surgery led to the patient's survival well, with no impairment of social behavior. The patient's mother remained disabled as previously and no new lesions in her brain and spinal cord were detected on her recent physical examination. Her son, who is now 23 years old, remains apparently healthy, he had not undergone whole-body multiorgan imaging until now. The patient's maternal aunt, a patient with suspected VHL syndrome, was diagnosed with \"renal cyst\" and \"pancreatic cyst\", then underwent a nephrectomy on the left side in her forties. Unfortunately, she did not consent to the invitation to undergo genetic testing and refused to provide detailed physical examination data during our long-term clinical follow-up. Up to now we learned that she did not undergo another surgical procedure and later and died of acute renal failure in 2015 at age 58. The other members of the family remained healthy without similar abnormalities.",
"gender": "Female"
}
] |
PMC11002081
|
[
{
"age": 54,
"case_id": "PMC11021101_01",
"case_text": "A 54-year-old man with a 15-year history of acromegalic physical changes was referred to our emergency department due to the gradual onset of mental status and behavioral changes. On physical examination, the patient had evident acromegalic features; disorientation and inattention stood out on neurological examination. Fundoscopic examination revealed bilateral papillary atrophy. Eye movements were unrestricted, and his right pupil was mydriatic and with diminished response to light. The rest of the exploration was not assessable. Brain magnetic resonance imaging (MRI) with contrast revealed a large, homogeneously enhancing anterior skull base lesion originating from and conditioning hyperostosis of the planum sphenoidale, compatible with a meningioma. In addition, a homogeneously enhancing sellar lesion with some areas of T1-weighted imaging shortening, compatible with a PitNET, was observed [Figure 1]. Serum GH and insulin-like growth factor 1 (IGF-1) levels of 4.3 ng/mL and 527.4 ng/mL, respectively, were reported.\nWe decided to approach both lesions through a combined EEA and TC approach in one surgical stage. Initially, an EEA trans-tuberculum/trans-planum was performed for both resection of the sellar lesion and vascular control of the meningioma by coagulation of the posterior ethmoidal arteries. Once the endoscopic stage was concluded, a transbasal approach was performed, achieving a Simpson I resection. The anterior skull base was reconstructed with fat graft and pedicled pericranium, and the sellar floor was reconstructed in a multilayered fashion employing inlay fascia lata, fat graft, onlay fascia lata, and a previously harvested nasoseptal flap. Transient diabetes insipidus and hypernatremia arose postoperatively, which were managed satisfactorily, and the patient was discharged after two weeks. At follow-up, biochemical remission was demonstrated; however, visual acuity remained severely impaired.",
"gender": "Male"
},
{
"age": 55,
"case_id": "PMC11021101_02",
"case_text": "A 55-year-old female with no relevant medical history presented to our department with a 6-year history of headache, joint pain in both hands, as well as acral and facial enlargement. Decreased visual acuity (20/60 bilaterally) and bitemporal hemianopsia were found on ophthalmologic evaluation. Endocrinological testing was relevant for a GH level of 24 ng/mL and IGF-1 of 770 ng/mL (index 3.83). Brain MRI revealed an isointense T1- and T2-weighted imaging sellar lesion, with heterogeneous contrast enhancement, extending upward into the third ventricle and with para sellar extension into the right cavernous sinus [Figure 2]. In addition, the MRI disclosed a left paraclinoid aneurysm, which was further assessed with a digital subtraction angiography (DSA), which reported left ophthalmic aneurysm.\nDue to the presence of an aneurysm in the para sellar region and the potential risk of rupture during the EEA resection of the GH-secreting PitNET, we decided to initially perform a microsurgical clipping of the aneurysm through a pterional approach and, subsequently, perform an EEA in a single surgical stage. The treatment of both lesions transcranially was also considered, but due to the enhanced visualization of the sellar region provided by the endoscope and the better tumoral and hormonal control associated, an EEA was favored. During the microsurgical stage, a left extradural anterior clinoidectomy and unroofing of the optic canal were performed to gain access to the distal dural ring and carotid cave for proximal control. Afterward, a left paraclinoid Barami IA, with a dorsomedial projection, was visualized. After thorough dissection, the aneurysm was finally excluded with two clips. Intraoperative fluorescence angiography confirmed the complete exclusion of the aneurysm as well as the hemodynamic integrity of the related vessels. Subsequently, the sellar lesion was resected through an EEA. After opening the sellar dura, a soft tumor was visualized, and gross total resection was performed. A similar reconstruction as the one described in Case 1 was performed. The postoperative course was uneventful. Biochemical remission was achieved, and her vision gradually improved.",
"gender": "Female"
}
] |
PMC11021101
|
[
{
"age": 75,
"case_id": "PMC10808341_01",
"case_text": "A 75-year-old man was admitted to our hospital experiencing chest tightness and dyspnea. His symptoms began ten days prior to admission, and included chest tightness, dyspnea, cough, and a small amount of brown sputum. His condition worsened over four days, prompting him to visit our hospital. He had sustained multiple fractures of the right ribs from a fall one month earlier and had applied unspecified herbs to the skin over the closed fractures. The patient had a history of smoking more than one pack of cigarettes per day for approximately 60 years.\nOn admission, he had a temperature of 36.7 C, blood pressure of 122/76 mmHg, pulse rate of 109/min, and a respiratory rate of 42/min. The patient's oxygen saturation level was 88% in room air. He was conscious and showed scattered ecchymosis on the right neck, shoulder, and chest, with no palpable swelling of the superficial lymph nodes. Laboratory tests upon admission revealed elevated blood neutrophils (94.5%) and C-reactive protein (CRP) (283.91 mg/L) levels, while white blood cell (WBC) count and other parameters were normal. Chest computed tomography (CT) revealed patchy high-density shadows and a pulmonary air cyst in the right upper lung (Figures 1A1-A3). During hospitalization, the patient underwent endotracheal intubation and invasive mechanical ventilation due to respiratory failure. Bedside fibrobronchoscopy revealed a significant amount of brown purulent secretions in the right superior lobar bronchus, and bronchoalveolar lavage fluid (BALF) was collected. Considering the possibility of community-acquired pneumonia, intravenous piperacillin-tazobactam and levofloxacin were initially administered.\nOn day +5 of his hospitalization, the BALF culture results showed gram-positive, branched, non-acid fast filamentous bacilli. These organisms developed aerial hyphae, which were clearly visible in the lactophenol cotton blue stain (Figures 2, 3). The organism formed whitish, dry, wrinkled small colonies on blood agar, characteristic of Streptomyces species. These colonies exhibited velvety texture and developed white aerial hyphae after 72 h of aerobic growth (Figure 4). Initial empirical treatment (intravenous piperacillin-tazobactam and levofloxacin) was changed to linezolid and amikacin. Following significant improvement in the patient's respiratory failure, he was extubated and provided with noninvasive ventilation via an oral-nasal mask. On day +8 of admission, an additional chest CT scan showed that the patchy shadows had fused into an enlarged lobe consolidation shadow, and a new left-sided pleural effusion was observed, indicating that the initial treatment was ineffective (Figures 1B1-B3). The organism was tested using the broth microdilution method to measure the minimal inhibitory concentration and was found to be susceptible to clarithromycin, amikacin, and linezolid (Kangtai Biotechnology Co., Ltd., Wenzhou). Clarithromycin was added, along with amikacin and linezolid, for 15 days. By day +20 of hospitalization, chest CT scans showed a gradual decrease in the consolidation shadow and volume of the right lung (Figures 1C1-C3). Upon discharge, the patient was instructed to continue clarithromycin therapy for two months. At a follow-up visit 2 months later, chest CT scans revealed that the lesion had been absorbed and both lungs had re-expanded (Figures 1D1-D3). There was no recurrence of the infection in the patient.\nConsidering the complexity of the diagnosis, we performed molecular identification using high-throughput sequencing to obtain the whole genome of the pathogen. DNA was extracted from the isolated strain and sequenced on an Illumina Nova-seq 6000 instrument (Illumina, San Diego, CA, USA) to produce 150-bp paired-end reads, at 100x coverage. High-quality reads were assembled de novo using MEGAHIT (version 1.2.5). The contig assembly base number was 9164494bp, the quality control parameter Q30 was 95.57%, and the GC percentage was 72.39%. The contig sequence had the highest similarity to the Streptomyces albireticuli MDJK11 sequence, with an average nucleotide similarity (ANI) value of 99.69%. The 16SrRNA was predicted using Barrnap (version 0.9) and was found to be similar to Streptomyces albireticuli, with 100% coverage and similarity. The sequence reads were deposited in the NCBI SRA database (accession numbers: PRJNA922082 [BioProject] and SAMN32642079 [BioSample]). A phylogenetic tree was drawn using BV-BRC, an information system combined with data and tools for bacterial and viral infectious diseases (Bacterial and Viral Bioinformatics Resource Center, version 3.28.9) (Supplementary Figure 1), using closely related Streptomyces species and different strains (published with complete genome sequence) of Streptomyces albireticuli from the National Center for Biotechnology Information (NCBI) database. Different strains of Streptomyces albireticuli clustered together, and the strain in this case clustered with Streptomyces albireticuli strain MDJK11.\nThe Streptomyces albireticuli strain possesses strong-hemolytic activity, which becomes apparent after 72h of cultivation, as shown in Figure 4. Hemolysis is considered a virulence factor in pathogens and is typically caused by the action of various protein hemolysins. Alterations in the expression or deletion of certain virulence genes can lead to varying degrees of hemolytic activity. In our study, we compared the genetic sequence of our strain with genes previously reported to induce hemolysis (Table 1). The comparison parameters were set with a minimum coverage of 0.8 and a similarity threshold of 0.7. The analysis revealed that the 16S ribosomal RNA gene of Brachyspira hyodysenteriae strain G423 (MT304816.1) and the FilA5 gene of Streptomyces filipinensis strain DSM 40112 (MH638271.1) were comparable within the scope of this study. Thus, these genes may be responsible for the hemolytic activity of PRJNA922082.",
"gender": "Male"
}
] |
PMC10808341
|
[
{
"age": 54,
"case_id": "PMC11326658_01",
"case_text": "A 54-year-old post-menopausal female presented in March 2023 with a complaint of an isolated right breast lump for 5 months. She had no B symptoms on presentation. She had no significant comorbidities or any significant medication history. Her family history of cancer was negative. Her general physical and systemic examination was unremarkable, apart from a 2.5 cm mass in the right breast upper outer quadrant with an enlarged right axillary lymph node.\nUltrasound right breast showed a 25-27 mm mass at the 10 O'clock position and lymphadenopathy in the right axilla. A core biopsy from the right breast tissue revealed invasive ductal carcinoma of the breast (Grade II as shown in figure 2). In contrast, the right axillary lymph node core biopsy showed DLBCL. On immunohistochemistry, CD20 was positive, whereas CD10 and CD5 were negative. Ki67 was 50% (figure 1). Baseline work-up including positron emission tomography scan, estrogen receptor (ER), progesterone receptor (PR), and Her-2 neu on breast biopsy specimen were ordered. ER was reported to be 95%, PR 50%, and Her-2 neu status was positive on breast biopsy. Positron emission tomography showed fluorodeoxyglucose avid right breast mass and axillary lymph node as can be seen in figure 3. Mildly avid subcentimetric, mediastinal, and hilar lymphadenopathy was also seen. Her case was discussed in a multidisciplinary tumor board meeting. Breast cancer was staged as cT2N0/Stage IIA and DLBCL as Stage IE. It was planned to start her with rituximab, cyclophosphamide, vincristine, doxorubicin, and prednisolone (R-CHOP) for three cycles followed by interim positron emission tomography; if the patient has a complete metabolic response (CMR), then the plan was to give one more cycle of R-CHOP followed by breast-conserving surgery. Adjuvant paclitaxel, Her-2 targeted therapy, and radiation were to be given after surgery. Interim positron emission tomography scan after three cycles of R-CHOP showed a complete metabolic response (Deauville score 2 as visualized in figure 4). She was given one more cycle of R-CHOP. Then, she had right breast-conserving surgery with axillary lymph node dissection in August 2023. Histopathology was reported as residual invasive breast carcinoma, no special type (ductal), grade-3, 23 mm with associated ductal carcinoma in situ, solid pattern, intermediate nuclear grade. Skin and all resection margins were free of tumors. Lymphovascular invasion was seen and two of two lymph nodes were positive for metastatic carcinoma on the frozen section, and one of 16 lymph nodes was positive for metastatic carcinoma with extranodal extension (ypT2ypN1a). She was recommended weekly paclitaxel for 12 cycles and trastuzumab and pertuzumab for 1 year. She is currently having her adjuvant trastuzumab/pertuzumab and paclitaxel, after which she will be planned for right breast and supraclavicular radiation with 40.5 Gy/15 fractions. Endocrine therapy will be started once chemotherapy is completed. She will be given artificial intelligence for an extended duration in view of the reported improvement in disease-free survival. She will be given endocrine therapy for extended duration in view of the reported improvement in disease free survival.",
"gender": "Female"
}
] |
PMC11326658
|
[
{
"age": 81,
"case_id": "PMC10556250_01",
"case_text": "We report the case of an 81 years-old man who was hospitalized in a district hospital a spontaneous left-sided pneumothorax. Bronchoscopy was performed and chest drain inserted; however, as the patient's condition was not improving, he was transferred to the University Hospital Ostrava for further (surgical) treatment.\nOn admission, the patient's general condition was stable. The patient was fully oriented and cooperative. Physical examination revealed left-sided subcutaneous emphysema and an air leak from the chest drain incision. Arterial pressure was 120/80 mmHg, heart rate was 78 beats per minute, and respiration rate was 20 per minute, all of which were within normal limits. Other findings were not clinically significant.\nThe patient's personal history included the following diagnoses:bronchial asthma, TIA/CVA (transient ischemic attack, cerebrovascular accident) from the right internal carotid artery basin (with left-sided hemiparesis), vertebrogenic algic syndrome of the thoracic and lumbar spine, benign prostatic hyperplasia, cataract surgery, total right hip replacement and Th11 (11th thoracic vertebra) fracture. He denied having any allergies. The medical family history was unremarkable. Before developing pneumothorax, however, the patient's condition was good and appropriate to his age and he suffered from no new medical conditions.\nAfter admission to the University Hospital Ostrava, a biportal thoracoscopic revision was performed. The camera port was placed between the mid- and anterior axillary lines in the 7th intercostal space, and the working incision was placed near the anterior axillary line in the 4th intercostal space. Multiple emphysematous bullae with scarred lung parenchyma were found in the apical part of the upper lobe of the left lung. A 3 x 3 cm tumour with perforation of the surrounding lung parenchyma was also found at the edge of this lobe, causing the pneumothorax. A non-anatomical stapled wedge resection of the tumour and all bullous lung tissue was performed. Outside the mentioned area, the lung tissue showed no signs of other pathology.\nThe resected material was sent to the Department of Pathology, where a comprehensive histopathological, immunohistochemical, immunofluorescence and proteomic examination was performed. Macroscopically, a smooth flattened tumour of a whitish colour and solid consistency was visible, 2.8 x 2.3 cm in size. Cross-sections of the lung tissue with a demarcated nodular focus formed by an amorphous eosinophilic matrix, consistent with the amyloid appearance, were observed microscopically (Figure 2). Histochemical evidence revealed positivity in Congo red and Saturn red staining. These structures exhibited typical dichroism (apple green) in polarised light. Numerous multinucleated CD68-positive histiocytes were present around the lesion. CD79a and CD138 positive B-lymphocytes of plasmacytoid differentiation were also dispersed in the lung tissue. Selective immunohistochemical staining was used to detect lambda and kappa immunoglobulin light chains, but only polytypic expression was observed (i.e., no restriction; Figure 3). Areas of dystrophic calcification and metaplastic ossification were also present. Other findings, apart from a large number of subserous emphysematous bullae and pigmentophages, were insignificant. Immunofluorescence analysis revealed no positivity for the AA, TTR, or immunoglobulin light chains. The likelihood of an AL amyloidosis diagnosis was, therefore, extremely low.\nFollowing that, a proteome analysis was performed using the LMD-LC/MS (thermal film-based laser microdissection and liquid chromatography coupled with mass spectrometry). The peptides were isolated from the Congo red positive sections of the FFPE (formalin-fixed and paraffin-embedded) lung tissue specimens, which were subsequently laser microdissected. Proteins were solubilized and digested to peptides for shotgun proteomics. Liquid chromatography was used to separate peptides, and mass spectrometry was used for examining individual peptides. The MaxQuant search engine was used to identify and quantify the acquired data. As a result, the relative intensity of each amyloid-forming protein was calculated as a percentage of the total intensity of all amyloid-forming proteins. The amyloid subtype AH was assigned to the amyloid-forming protein Ig alpha-1 chain C region, which had the highest relative intensity (60.4%). Other amyloid-forming proteins were also discovered; their relative proportion was, however, much lower:to be specific, these low-represented amyloid proteins included Ig gamma-1 chain C area (7.2%), Ig kappa chain C region (6.0%), Immunoglobulin lambda-like polypeptide (6.0%), and Ig kappa chain V-III region B6 (3.1%). The remaining proteins included Serum Amyloid P, Apolipoprotein E, Apolipoprotein A-IV, and others. The obvious preponderance of Ig heavy chains led to the diagnosis of primary nodular pulmonary amyloidosis of the AH-dominant type was established.\nThe patient was observed postoperatively in the ICU (intensive care unit) of the surgical department. No complications occurred:the patient was lucid, afebrile, compensated, he felt well, the wound healed per primam, with adequate amount of discharge from the chest drain, the air leak dwindled until it finally disappeared. In stable condition, he was then transferred to the standard department of the surgical clinic, where his condition continued to improve. He was finally discharged to outpatient care on postoperative Day 7. On follow-up at 2 months, the patient was completely well, and the lung X-ray was free of pathology.\nDue to the ambiguous results of the histopathological examination, further investigations to rule out the presence of haematological malignancy was performed. Two months later, the patient underwent a thorough examination at the Department of Haematooncology. Bone marrow aspiration from the right iliac crest yielded no pathological findings on cytology, flow-cytometry and cytogenetics. Additional blood tests detected no evidence of monoclonal gammopathy with negative serum and urine immunofixation and normal free light chains ratio. The blood count was normal (leukocytes 5.8 x 109/L, haemoglobin 135 g/L, platelets 367 x 109/L), with 9% lymphocytes and 82% neutrophils. Beta 2 microglobulin was slightly elevated with a value of 2.96 mg/L, lactate dehydrogenase was normal (2.44 ukat/L). Monoclonal gammopathy was not detected, serum and urine immunofixation were negative, and the free light chains ratio (FLCr) was normal, without an increase in free light chains. Other biochemical tests were also normal. Finally, abdominal fat aspiration was performed with no evidence of amyloid presence. Haematological examination excluded plasma cell dyscrasias (monoclonal gammopathy, AL amyloidosis) because of negative findings of the M protein, light chains, clonal plasma cells in the bone marrow and subcutaneous fat infiltration.\nUnfortunately, the subsequent progress of the patient is unknown as any attempts to contact him were unsuccessful.\nUsing the keywords \"amyloidoma,\" \"nodular amyloidosis,\" \"lung,\" \"pulmonary,\" \"pneumothorax\" and their combination, a total of 654 articles were found in the PubMed database. The search criteria were full-text publications available from 1960 to the present (\"all time\" search). Following a thorough review, individual article abstracts that were irrelevant to the topic, as well as duplicates, were excluded. As a result, 90 papers on nodular pulmonary amyloidosis cases were included in the next stage of the analysis. During further processing, 70 articles were discarded because of the missing histopathological verification or precise molecular subtyping of amyloid protein. Finally, 20 case reports were included in the final analysis, as shown in Table 1 (which also includes the presented patient's case).\nAs the description of the search shows, determining the exact type of amyloid fibrils is only performed in a minority of cases. The authors are usually satisfied with the fact that the finding excludes AA amyloid and, hence, AL amyloid is assumed based on an underlying disease.\nA closer look at the reported cases selected for further analysis reveals that the majority of patients (57%) are women. The mean age is 66.8 years (range 41-86 years, median age 67 years). A quarter of the patients had no clinical symptoms at the time of diagnosis, the findings were incidental (either on imaging methods or at autopsy). Twelve patients (57%) showed various pulmonary symptoms (from banal cough to spontaneous pneumothorax in our case). No underlying co-morbidity was present in nine patients (43%). Of the remaining 57% who had a primary underlying illness, Sjogren's syndrome (a total of five cases:24%) was the most common. As for the nature of the pulmonary impairment, it was most often multiple nodules (71%) that were located bilaterally (73.3% of all cases with multiple nodules).\nAccording to the molecular subtyping of amyloid fibrils, AL amyloidosis was the most common type in the published reports (a total of 13 cases:62%). The distribution of the types of light immunoglobulin chains was more or less uniform:six cases of kappa and lambda each, a mixed involvement in one case. Of the remaining types of amyloidosis, serum A protein was detected in three cases (14%), transthyretin in two (10%), beta-2 microglobulin (5%) and heavy immunoglobulin chains in one patient each. A case of combined AL/AH involvement was reported as well.\nAdditionally, it is also necessary to mention the study by Grogg et al., which presents a thorough examination of clinicopathological data from 18 patients with nodular amyloidosis. Unfortunately, as this study did not report detailed information about individual patients, we could not include it into the table of cases (Table 1). This study, however, revealed interesting results. In particular, mass spectrometry examination of the amyloid deposits revealed immunoglobulin light chains with a majority of kappa (77%) in all 18 cases. This differed from 14 patients with systemic form AL amyloidosis, which was characterised with a predominance of light chains of the lambda type. Moreover, 13 out of the 18 patients with nodular pulmonary amyloidosis showed immunoglobin heavy chain co-deposition, indicating mixed AL/AH type amyloidosis. This was another feature distinguishing it from the systemic AL type. The study authors also note that there is an important association between the development of nodular pulmonary amyloidosis and the presence of an underlying lymphoplasmacytic neoplasm, which should be considered when deciding on the next course of action in patients with similar findings.",
"gender": "Male"
}
] |
PMC10556250
|
[
{
"age": 55,
"case_id": "PMC11214292_01",
"case_text": "A 55-year-old gentleman, a chronic smoker with underlying diabetes mellitus, presented with shortness of breath upon walking for a 1-week duration associated with cough and fever. Two months prior, he had oral ulcer and dysphagia, causing reduced oral intake and, subsequently, loss of body weight of 14 kg. On further history, he also has occasional night sweats. Otherwise, there is no history of contact with tuberculosis-infected individuals, chest pain, or hemoptysis.\nUpon examination, he was comfortable under room air, not tachypneic, but appeared dehydrated with cachexia looking. The oral examination noted multiple ulcers with whitish candidiasis discharge look. The lungs are clear bilaterally. Multiple enlarged cervical lymph nodes are palpable. The rest of the systemic examinations are unremarkable. Blood investigations revealed a high white count and C-reactive protein. He also had high urea and creatinine levels owing to his hydrated status. The liver function test was within normal limits. Sputum acid-fast bacilli were tested for tuberculosis, revealing a negative finding. The tuberculosis Gene Xpert also back as negative.\nA Chest Radiograph (Fig. 1) showed diffuse, innumerable tiny nodules scattered in both lungs, in keeping with military nodules. No cavitation or consolidation was noted. He was then referred to the ear, nose, and throat department for dysphagia and oral ulcer. The otorhinolaryngologist decided to proceed with a biopsy of the nasopharynx and cervical node. On histopathological examination, the nasopharynx tissue was proved to be rhinosporidiosis, while the cervical lymph node biopsy only revealed necrotic tissue.\nThe contrasted enhanced computed tomography (CECT) chest (Fig. 2) showed diffuse discrete innumerable tiny nodules of random distribution scattered in both lungs, predominantly at bilateral upper lobes. No cavitation, tree in buds, or pleural effusion seen. Subsequently, CECT of neck and thorax, revealed multiple necrotic lymph nodes at bilateral cervical and mediastinal regions (Fig. 3). Most of the lymph nodes had thick enhancing wall with central hypodensity likely to represent suppurative lymph node. Other findings were two large, well-defined, rounded hypodense lesions at bilateral suprarenal regions, likely arising from both adrenal glands (Fig. 4). These lesions demonstrated irregular thick enhancing wall which could represent abscess formation. The diagnosis of disseminated rhinosporidiosis was then made based on the constellation of these findings and histopathology examination (HPE) (Fig. 5, Fig. 6). He was then treated with a long course of antifungal and serial chest radiograph follow-up.",
"gender": "Male"
}
] |
PMC11214292
|
[
{
"age": 49,
"case_id": "PMC10977335_01",
"case_text": "A 49-year-old man periodically visited our outpatient clinic for endocrinological and otorhinolaryngological evaluation of multiple head and neck paragangliomas, with a strong suspicion of SDHAF2 variant carrier status.\nThe patient had presented at the age of 14 years with two slowly progressing swellings on both sides of the neck, diagnosed as bilateral carotid body tumors (CBDs) (no imaging available) (Table 1). The family history revealed a father, aunt, and grandfather in the paternal lineage with multiple head and neck paragangliomas (Table 2). Some of the affected family members had been identified as carriers of the pathogenic c.232G > A, p.Gly78Arg variant in SDHAF2, and therefore, the patient was deemed a carrier of the same pathogenic SDHAF2 variant.\nAt the age of 19, both CBTs were surgically removed. Histopathology confirmed the diagnosis of bilateral paraganglioma. Three years after surgery, the patient noticed recurrence of the swelling in the neck on the right, and at the age of 27, recurrence of the right CBT was diagnosed with MR imaging (Figure 1). In addition, the MRI showed bilateral vagal paragangliomas (Figure 2) with the left-sided tumor slowly progressive over time. In the following years, paresis of the right vocal cord developed, accompanied by hoarseness that was acceptable for the patient. At the age of 34, the patient was diagnosed with an additional jugulotympanic paraganglioma on the left side (Figure 3), which was partly surgically removed 16 years later because of troublesome pulsatile tinnitus. This procedure was uncomplicated and resulted in the satisfactory resolution of the tinnitus. No clinically relevant catecholamine excess was found during the course of the disease (Table 3).\nAt the age of 49, a whole body MRI was performed in a clinical screening context. A new solid lesion of 3 cm at the head of the pancreas was identified. A subsequent 68Ga-DOTATATE scan showed increased uptake in this lesion and revealed additional DOTATATE-avid lesions in the thorax: two suspected noduli in the right lung and multiple paravertebral spinal bone lesions (Figures 4 and 5). No other primary sympathetic paragangliomas or pheochromocytomas were found in the abdomen or thorax. A transpedicular biopsy of the left Th10 showed a localization of paraganglioma within the spinal bone. Cytology of the head of the pancreas also showed paraganglioma. Both specimens showed negative SDHB immunohistochemistry. IHC stainings were performed on 4-5 mum tumor sections of FFPE blocks using a 1/500 dilution of the SDHB polyclonal antibody HPA002868 (Atlas, Stockholm, Sweden) using standard immunohistochemical techniques. These findings confirmed the diagnosis of metastatic SDHx-linked paraganglioma. DNA testing of affected family members had already identified the pathogenic c.232G > A p.(Gly78Arg) variant in exon 2 of the SDHAF2 gene, and this variant was confirmed in the current patient using standard Sanger sequencing. Because of the multicentric and metastatic disease, systemic treatment was started with lanreotide 120 mg daily. The disease has remained stable according to RECIST 1.1 during the 27 months of follow-up, both at the primary and metastatic sites.",
"gender": "Male"
}
] |
PMC10977335
|
[
{
"age": 57,
"case_id": "PMC10713249_01",
"case_text": "A 57-year-old male patient presented with recent left-sided amaurosis fugax. His medical history included BMI > 30 kg/m2, heavy smoking (60 pack-years), dyslipidemia, resistant arterial hypertension (160/70 mmHg under triple regimen including beta-blocker, Ca channel blocker, and angiotensin converting enzyme (ACE) inhibitor), coronary artery disease (myocardial infarction and angioplasty plus 2 stents less 1 month ago, under dual antiplatelet treatment (ASA 100 mg plus clopidogrel 75 mg)), and renal dysfunction (creatinine = 2.2 mg/dl). Ultrasound and computed angiography (CTA) revealed a left 70% internal carotid artery (ICA) stenosis with intraplaque thrombus. CTA did not reveal any typical ischemic lesion in the brain nor any significant deficiency in the brain circulation (Figure 1).\nThe patient underwent CEA with synthetic patch placement. Due to anatomical difficulties (thick and short neck, high carotid bifurcation in CTA), placement of a shunt was not feasible although ICA backflow was unsatisfying (stump pressure measured: 39 mmHg). Although anatomical difficulties were suspected preoperatively, CEA was preferred over stenting as this was a symptomatic case. Carotid clamping time was 22 minutes. During awaking from anesthesia, the patient presented confusion and right-sided hemiparesis and a very high systolic arterial pressure (>180 mmHg). Under conservative treatment including IV antihypertensives, the patient improved within the next hours. Brain imaging revealed a small infarct in the left white matter (possibly embolic) with possible oedema as well as a large cervical hematoma with trachea deviation (Figure 2). No heart arrhythmia was evident at that time. However, the patient complained only for light difficulty in swallowing without any symptoms related to the airway. Due to comorbidities, a conservative treatment of the hematoma was decided initially. The patient was discharged after 5 days, with normal neurologic status, regulated hypertension, normal heart rhythm, and a stable cervical hematoma (without swallowing or breathing difficulty). The patient was discharged under ASA only for a few days due to the hematoma after consulting with the cardiologist.\nA week after, the patient presented with an enlarged hematoma and a bigeminy heart rhythm (asymptomatic arrhythmia, Figure 3). Laboratory testing indicated no abnormal levels of electrolytes such as calcium, magnesium, potassium, and phosphate. The patient underwent an urgent reoperation including hematoma excision, hemostasis, and wound revision. The heart rhythm recovered to normal sinus rhythm right after the hematoma removal. The patient was discharged after 3 days with normal neurologic status and under antibiotics and dual antiplatelet treatment (due to the recent cardiac stenting). The further wound course was uneventful. The arterial pressure was better regulated, and the patient is under nephrologist consultation. Three months after surgery, the patient remains asymptomatic.",
"gender": "Male"
}
] |
PMC10713249
|
[
{
"age": 16,
"case_id": "PMC10874691_01",
"case_text": "The patient is a 16-year-old female, G2P0010, at 24 6/7 weeks' gestation who presented to the emergency department with 1 week of chest pain, dyspnea, subjective fever, and known COVID-19 exposure. Her chest pain worsened when she was supine and improved with leaning forward. She was otherwise healthy with no known medical problems and had an uncomplicated pregnancy to date. \n Upon presentation, she was febrile to 40 C, tachycardic up to 146 beats per minute, and hypotensive with blood pressure as low as 78/52 mm Hg. Her oxygen saturation remained more than 97% on room air and she was alert and oriented. Initial workup included chest X-ray which demonstrated cardiomegaly, computed tomography of the chest which was negative for pulmonary embolism but remarkable for ground glass opacities, and echocardiogram showing reduced left ventricular systolic function with ejection fraction 51%. Coronary arteries were normal. Electrocardiogram demonstrated sinus tachycardia with nonspecific ST/T wave changes. Laboratory tests were notable for elevated inflammatory markers including D-dimer 890 ng/mL (normal < 230 ng/mL), C-reactive protein (CRP) 167.3 mg/L (normal 0-5 mg/L), and procalcitonin 0.57 ng/mL (normal < 0.05 ng/mL). Ferritin was initially normal at 130 ng/mL (normal 5-204 ng/mL). Elevation of troponin I to 0.43 ng/mL was also noted (normal < 0.04 ng/mL). White blood cell count was 23.2 x 10 3 microL (normal 4.2-9.4 x 10 3 microL). Nasopharyngeal swab for SARS-CoV-2 was negative, as were blood and urine cultures. \nDespite negative nasopharyngeal swab result, the patient was presumed to have COVID-19 given symptoms, laboratory and imaging findings, and known exposure. She remained hypotensive despite fluid boluses and was thus transferred to the intensive care unit for blood pressure support and further management with presumed diagnosis of COVID-19 pericarditis, myocarditis, and pneumonia.\nThe patient was managed by a multidisciplinary team including critical care, pediatric cardiology, infectious disease, and maternal-fetal medicine. A discussion was held regarding her clinical status, gestational age, and maternal-fetal implications of periviable birth. The fetus had recently demonstrated appropriate estimated fetal weight for gestational age. The patient stated she desired full intervention for maternal or fetal indications and consent for classical cesarean delivery was obtained. It was decided that delivery would be performed for maternal deterioration, to improve resuscitative efforts, or for nonreassuring fetal status. Given her wishes and critical illness, a course of betamethasone was administered. Fetal surveillance was performed with daily nonstress tests, which was noted to be reassuring.\nOver the next several days, she became progressively more tachypneic and hypoxic, requiring supplemental oxygen via nasal cannula then high-flow nasal cannula. Two additional nasopharyngeal swabs for SARS-CoV-2 were sent over this time and resulted as negative. She ultimately required intubation on hospital day 3. Nasopharyngeal swab from the tracheal aspirate taken at the time of intubation returned positive for SARS-CoV-2.\nThe patient was initially treated with azithromycin, hydroxychloroquine, and zinc for COVID-19, as well as ceftriaxone for possible superimposed bacterial pneumonia. Methylprednisolone was given due to hypotension refractory to volume expansion as well as to treat rapidly progressing acute respiratory distress syndrome (ARDS) and cytokine storm. Approval for compassionate use of remdesivir was obtained and administered following intubation. Prone positioning was utilized while the patient remained intubated, with care taken to cushion and support the gravid abdomen. She required blood pressure support with norepinephrine and was started on a heparin drip for elevated D-dimer.\n While intubated, an erythematous rash was noted on her palms that then desquamated. She also developed diarrhea. Testing for Clostridium difficile was performed and returned negative. Repeat echocardiogram demonstrated stable but reduced ejection fraction at 50 to 55% as well as dilation of the left ventricle. Her troponin normalized. The peak values of her inflammatory makers were D-dimer 1,003 ng/mL, CRP 249 mg/L, ferritin 670 ng/mL, and procalcitonin 0.57 ng/mL. All eventually downtrended throughout her course. In addition, she developed a significant anemia with hemoglobin nadir of 6.6 g/dL for which she received a total of three units packed red blood cells. The anemia was attributed to her illness as there was no evidence of active bleeding and she was not anemic prior to presentation. \nShe was extubated on hospital day 7, weaned off supplemental oxygen, and transitioned to room air. Fetal nonstress tests were appropriate for gestational age throughout her admission. The patient was discharged on hospital day 12 with scheduled follow-up with pediatric cardiology and maternal-fetal medicine. She remains stable and undelivered at the time of this writing.",
"gender": "Female"
}
] |
PMC10874691
|
[
{
"age": 0,
"case_id": "PMC10811125_01",
"case_text": "The patient is the only child of consanguineous parents native to Bangladesh, born at 36 + 6 weeks of gestation. Weight at birth was 1.740 kg (Z-score -2.81), length was 41 cm (Z-score -2.19), occipito-frontal circumference was 30 cm (Z-score -2.95). Developmental motor milestones were reached according to age (sitting position at 7 months, autonomous walking at 14 months), while first words were pronounced around 18 months of age and language development was delayed. In addition, from the age of two, parents noticed poor interaction with peers and poor non-verbal communication. The patient was initially evaluated at the age of 12 months for poor weight gain in the context of late preterm birth and SGA. Routinary blood tests showed a slight increase of RBC [5.300.000/mm3, upper reference limit (URL) 5.000.000/mm3] and AST activity (53 U/L, URL 40 U/L). Screening for celiac disease, TSH and IGF1 were normal while total IgE levels were increased (299 kU/L, URL 40 kU/L) with positivity for specific IgE against milk, alpha and beta lactoglobulin, for which a two-month cow's milk protein-free diet was started. On follow up exams, a trend towards progressive increase of erythocytosis was evident, and the patient was admitted to the hospital for further investigations. On admission, complete blood count showed: RBC 7.850.000/mm3, Hct 65.2%, Hb 19.8 g/dl, platelets 170.000/mm3 and reticulocyte 144.000/microl (2.2%). Hb electrophoresis and serum EPO levels were normal (6.63 mu/ml, normal range: 4.3-29 mu/ml). Polycythemia Vera and other forms of myeloproliferative neoplasms were excluded through molecular testing for JAK2 -V617F mutation and BCR/ABL fusion gene on peripheral blood. Echocardiogram and complete abdomen ultrasound showed no anomalies. After initial treatment, the patient underwent phlebotomies in aliquots of 6 ml/Kg at rate of approximately 1 procedure per month. To investigate different congenital forms of polycythemia a clinical exome sequencing, containing more than 8,500 genes, including the ones involved in polycythemia (EPOR, SH2B3, EGLN1, EPAS1, EPO, JAK2, PIEZO1, SLC30A10 and VHL), was performed. Data analysis did not detect any variant in primary erythrocytosis genes but revealed the homozygous novel missense variant NM_018713.3:c.392T>G (p.Leu131Arg) in SLC30A10 gene (ZINC TRANSPORTER 10; ZNT10), associated with HMNDYT1 and initially classified as a variant of uncertain significance according to the ACMG criteria (see Supplementary Materials).\nTo assess our patient's variant pathogenicity, serum Mn levels were tested, confirming a condition of hypermanganesemia (7.00 mug/L; URL 3.00 mug/L). Brain MRI showed bilateral and symmetrical T1 signal hyperintensity of globi pallidi, subthalamic nuclei, substantia nigra, pontine tegmentum, superior cerebellar peduncles, dentate nuclei and anterior pituitary gland, highly suggestive of manganese accumulation (Figure 1). Brain MRI findings along with erythrocytosis and hypermanganesemia confirmed the diagnosis of HMNDYT1, and the c.392T>G (p.Leu131Arg) variant in SLC30A10 was re-classified as likely pathogenic. Hepatic ultrasound was normal, and no extrapyramidal sign was detected at neurological examination. A standardized neuropsychological evaluation showed a non-verbal IQ within normal range (IQ 87, Leiter 3 scale), with a poor adaptive functioning (Vineland-II Adaptive Behavior composite score 47, below the first centile for age). At 3 years of age, language is limited to two words, pointing gesture, pretend and symbolic play are absent, and eye contact is poorly modulated.\nThe patient was treated with iron supplementation and chelation therapy with CaNa2EDTA (20 mg/kg). Manganese levels were assessed before and after chelation therapy, showing a significative reduction from 19,80 mug/L-7,41 mug/L. Complete blood count showed a reduction of erythrocytosis indexes (RBC 5.840.000/mm3, Hct 45.9%, Hb 14.3 g/dl). After three months from starting treatment, our patient has not developed extrapyramidal signs. However, it remains unclear if his developmental impairment with language delay and autistic traits are part of the phenotypic spectrum of the disorder (although not reported yet) or an unrelated comorbidity.",
"gender": "Male"
}
] |
PMC10811125
|
[
{
"age": 29,
"case_id": "PMC10601792_01",
"case_text": "A 29-year-old female with a desmoid tumor of the thigh and no other significant medical history presented to the hospital with acute hypoxic respiratory failure 10 days after initiation of sorafenib. She was recently diagnosed with desmoid fibromatosis (smooth muscle actin and beta-catenin positive) of the proximal right thigh. Surgical resection was considered high risk given the close proximity of the poorly marginated mass to femoral neurovascular bundle and abutting femur. Next-generation sequencing (NGS) testing was notable for a hotspot beta-catenin (CTNNB1) mutation (p.S45F, c134C>T) and a heterozygous-level receptor tyrosine-protein kinase erbB-2 (ERBB2) mutation (p.N857S, c.2570A>G). She was started on 200 mg sorafenib daily with 200 mg celecoxib twice daily 1 week prior to presentation and remained on this therapy up until the day of admission. During this time, she experienced worsening headaches and dyspnea with increasing diastolic blood pressure readings at home with the highest measurement of 147/108. Additionally, she had chest pressure as well as nausea and an episode of emesis. She denied fever, chills, congestion, rhinorrhea, coughs, orthopnea, and lower extremity swelling.\nUpon arrival in the emergency department, she was afebrile, tachycardic but hemodynamically stable. Her oxygen saturation was 86% on room air with an improvement to 92% on 5 L of oxygen through nasal canula. Physical exam findings were notable for an acutely distressed appearance, tachycardia, diminished bilateral breath sounds with crackles, as well as 1+ pitting edema in bilateral lower extremities. Initial chest radiograph showed diffuse hazy and interstitial opacities including Kerley B lines (Fig. 1, left). Complete blood count was significant for total white blood cell (WBC) of 3,710 cells/microL (reference range: 3,990-11,190/microL), hemoglobin 18.3 g/dL (11.4-15.2 g/dL), hematocrit of 52% (34.9-44.3%), and platelet count 128,000/microL (150,000-393,000/microL). Comprehensive metabolic panel and liver function tests including albumin were unremarkable. Urine analysis was unremarkable and without proteinuria. Additional laboratory findings included elevated high-sensitivity D-dimer 3.11 mug/mL (<0.50 mug/mL), but normal qualitative beta-human chorionic gonadotropin, high-sensitivity troponin <3 ng/L (<=34 ng/L), B-type natriuretic peptide 4 pg/mL (<=100 pg/mL), and thyroid stimulating hormone 1.816 uIU/mL (0.550-4.780 muIU/mL). Chest computed tomography with contrast showed extensive pulmonary edema with bilateral effusions (Fig. 2). Electrocardiogram demonstrated sinus tachycardia without other abnormalities. Trans-thoracic echocardiogram showed reduced left ventricular size suggestive of reduced filling, but otherwise global systolic function and regional wall motion were normal with an ejection fraction of 63%. Right ventricle as well as right and left atria were normal in size and function with intact valves. Respiratory infectious work-up including COVID-19 and influenza A/B was negative.\nGiven the lack of an alternative etiology for acute hypoxic respiratory failure, noncardiogenic pulmonary edema, bilateral pleural effusions, and hemoconcentration, patient was deemed to have an acute capillary leak syndrome due to sorafenib use. She was briefly on continuous positive airway pressure for ventilatory support, but otherwise remained hemodynamically stable throughout her hospital course. She received 40 mg intravenous furosemide on day 0, but the dose was increased to 80 mg on days 1-3 to optimize her urine output to achieve net negative 500 cc fluid balance. Her respiratory status and pulmonary edema improved (Fig. 1, right) with continuous positive airway pressure and intravenous furosemide, and she was weaned to nasal cannula by day 2. By day 4, she no longer required supplemental oxygen. By day 5, she was discharged on oral furosemide with outpatient follow-up. Her symptoms did not recur after discontinuation of sorafenib. She has started methotrexate and vinblastine with the goal of pain relief and cytoreduction. Patient continues to have stable tumor burden on imaging.",
"gender": "Female"
}
] |
PMC10601792
|
[
{
"age": 75,
"case_id": "PMC10644874_01",
"case_text": "A 75-year-old Japanese man with diabetes mellitus and polymyositis underwent a total gastrectomy for gastric adenocarcinoma of the fundic gland. Cefazolin was administered as a perioperative antibiotic and was discontinued the day after surgery. No additional antibiotics were administered thereafter. Seventeen days after the surgery, he developed fever and chills during hospitalization. He had initially been scheduled to undergo a robot-assisted minimally invasive gastrectomy; however, the surgery was changed to laparoscopy-assisted total gastrectomy because of a rupture of the esophageal wall during resection using an ultrasonic energy device. The operation was completed without any other intra-operative complications after a total operation time of 580 minutes. He had experienced an exacerbation of polymyositis 5 weeks before the surgery, which was treated with oral prednisolone, starting with a dose of 20 mg/day (0.5 mg/kg) for 7 days, which was gradually reduced to 5 mg/day by the time of surgery.\nHis postoperative recovery after gastric surgery was uneventful. A liquid diet was started on postoperative day 6, the abdominal drain was removed on postoperative day 7, and an oral diet was started on postoperative day 9. However, on postoperative day 17, the day before his scheduled discharge, he developed a fever of 38 C and chills.\nThe physical findings at the time that the patient developed a fever were unremarkable: His lung sounds were clear, there were no heart murmurs, and there was no abdominal tenderness or rebound pain. The abdominal surgical incision wounds did not have any sign of inflammation or discharge. Blood tests revealed an elevated leukocyte count (17,800 cells/microL; normal range: 3300-8600 cells/microL), and C-reactive protein (9.88 mg/dL; normal: <=0.04 mg/dL), and procalcitonin (1.11 ng/mL; normal: <=0.05 ng/dL) levels. Abdominal computed tomography showed a 40 mm hypodense solid mass at the site of the esophagojejunostomy (Figure 1). Piperacillin/tazobactam (4.5 g intravenously every 8 hours) was started immediately on the diagnosis of the intra-abdominal abscess after obtaining two sets of blood cultures.\nThe following day, two aerobic blood culture bottles and pus obtained by CT-guided drainage confirmed the presence of gram-negative rods using Gram staining (Figure 2). Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) (MALDI Biotyper ver. 9.0.0.0; Bruker Daltonics, Billerica, MA, USA) confirmed that the microorganism isolated from blood culture was S. maltophilia with a spectral score of 2.351. Therefore, we initiated intravenous trimethoprim-sulfamethoxazole (SXT), which is the first-line drug for treating S. maltophilia infection, intravenously (480 mg/2400 mg per day) and inserted a pigtail catheter to drain the abscess. Two days of aerobic and anaerobic cultures of the blood and abscess confirmed only S. maltophilia, and hence, piperacillin/tazobactam was discontinued and the antibiotic was changed to SXT alone (Figure 3). Antimicrobial susceptibility was measured using the MicroScan WalkAway system with an NM2J panel (Beckman Coulter) according to the Clinical and Laboratory Standards Institute guidelines (M-100-ED32:2022). The results revealed that the S. maltophilia isolate was sensitive to SXT, levofloxacin (LVFX), and minocycline (MINO).\nAbdominal CT after 14 days of drainage revealed complete resolution of the abscess. Therefore, the pigtail catheter was removed, and the intravenous SXT was changed to oral SXT (480 mg/2400 mg per day), which was continued for a further 2 weeks (for a total of 4 weeks). The patient recovered without any recurrence and was discharged.\nWritten informed consent was obtained from the patient accompanying the image, and the present case was in line with the surgical case report guidelines.",
"gender": "Male"
}
] |
PMC10644874
|
[
{
"age": 25,
"case_id": "PMC11306723_01",
"case_text": "A 25-year-old female patient applied to our clinic with the complaint of high fever attacks that were accompanied by complaints of headache, fatigue, sore throat, difficulty in swallowing, and mouth sores, which recurred every 4-5 weeks and lasted for about 5 days. During the previous attacks, antibacterial treatments commenced with the diagnosis of bacterial pharyngitis, providing no relief. Bacteriological and virological examinations performed during her previous attacks were negative. With the preliminary diagnosis of recurrent upper respiratory tract infection (URTI), the patient was referred to us after low IgA levels were detected in the tests performed for the possibility of immunodeficiency in another center.\nApart from her current symptoms and findings, the patient did not describe any additional diseases or regular medication use. There was no history of any allergic disease, autoinflammatory disease, autoimmune disease, primary immunodeficiency condition, or neoplastic disease in the family members.\nDuring the physical examination of the patient, the temperature was measured at 39 C. There were no abnormalities in the other vital signs. On examination of the oropharyngeal mucosa, the tonsils were hyperemic, and there were two aphthous lesions, one on the left tonsil and one on the inner side of the lower lip (Figure 1). There was a 4 cm-sized, painful cervical lymphadenopathy on the right side of the neck. The pathergy test was negative. Apart from these findings, there were no significant pathological findings on physical examination.\nIn laboratory examinations, the complete blood count, liver and kidney function tests, serum albumin and total protein levels, serum iron parameters, vitamin B12, and folic acid levels were normal. She had a high ESR (36 mm/h) and a very high CRP (69.2 mg/L).\nAntistreptolysin O (ASO) and rheumatoid factor (RF) were found to be negative. Hepatitis B virus (HBV) surface antigen (HBsAg), HBV surface antibody (anti-HBs), antihepatitis C virus (anti-HCV), and antihuman immunodeficiency virus (anti-HIV) serological examinations were negative. Antinuclear antibody (ANA), antidouble-stranded deoxyribonucleic acid (anti-dsDNA), and antineutrophil cytoplasmic antibody (ANCA) were detected as negative. Cultures and polymerase chain reaction (PCR) tests for the detection of infectious agents, including URTI, urinary tract infection, Epstein-Barr virus (EBV), and cytomegalovirus (CMV), were negative (Table 1).\nImmune work-up confirmed selective IgA deficiency. Other immunoglobulins and IgG subgroups were within normal ranges, excluding IgG2 deficiency. Flow cytometry revealed mild B lymphopenia, which was resolved in follow-ups (Table 2).\nWe prescribed a 60 mg single dose of prednisolone treatment with the preliminary diagnosis of PFAPA. Following steroid treatment, the fever resolved in 24 hours. CRP levels returned to normal within 72 hours. Aphthous ulcers regressed as well. However, the patient's serum IgA level remained low (0.699 g/L) in the symptom-free period. Approximately 6 weeks later, the patient returned to our clinic with findings similar to those from her first admission. The second attack also responded well to single-dose prednisolone treatment. Regular colchicine treatment was planned to prevent recurring attacks. Also, regular follow-up was planned for the possibility of the development of common variable immunodeficiency (CVID) on the basis of SIgAD. However, the patient discontinued follow-up.",
"gender": "Female"
}
] |
PMC11306723
|
[
{
"age": 8,
"case_id": "PMC10776187_01",
"case_text": "The patient, a female infant presenting with developmental delay and regression with severe feeding difficulties, was initially referred to paediatrics by her GP at 11 months of age and was subsequently seen by paediatric neurology and clinical genetics. She was born to an unrelated and healthy White British couple, with a healthy 8-year-old half-brother on the father's side from a previous relationship.\nThe patient was born at 39 weeks via normal vaginal delivery with no complications. Early in the pregnancy, the mother suffered from hyperemesis gravidarum, and from 36 weeks, she took oral acyclovir as prophylaxis against herpes simplex. Scans showed placenta praevia, and while these showed no obvious concerns regarding the baby, some concerns relating to foetal movements were noted in the later stages of pregnancy. At birth, the baby weighed 3.42 kg (near the 75th centile) with a head circumference of 32.7 cm (near the 25th centile). Talipes was noted in the left foot, and a referral to physiotherapy was arranged. Shortly after birth, the parents noticed the baby to be generally sleepy; she did not cry much or demand feeds, necessitating timed feeds with an alarm. Although no seizures were reported in the neonatal period, the mother reported abnormal hand movements in the first 4 months.\nEarly development was encouraging, as she was able to roll both ways by 5 months and sit without support for brief periods by 6 months. It was noted, however, that she tended to take weight on her tiptoes when held upright, never bounced, and was not happy lying on her front or able to push herself up on her arms. Parental concerns first arose at 6 months of age, as the patient was no longer meeting developmental milestones. She did not progress beyond brief periods of sitting up, was not able to tolerate lumpy food when weaning, and was found to have unilateral hearing loss, which underwent investigation.\nShe was reviewed by the paediatric neurology and clinical genetics team when she was 51 weeks old. By this point, the mother reported a clear history of developmental regression and loss of skills, particularly in the past 4 weeks, with the patient no longer being able to roll over or sit even with support. She showed left-sided preference, moving her left arm and leg more than the right, as well as limited head control. She had a palmar grasp but no pincer grip, no stranger anxiety, and her language consisted of babble only. She had also been having increasing difficulties with feeding and weight loss and was frequently choking and gagging, necessitating the insertion of a nasogastric tube for feeding. In addition, she had developed constipation, requiring treatment with Movicol.\nOn examination, she now had a head circumference of 41.5 cm (less than the 1st centile, -2.46 SD) and weighed 6.89 kg (2nd centile). She displayed several distinctive features including almond-shaped eyes with epicanthic folds, mild ptosis bilaterally, a widened nasal bridge, mild brachydactyly in her feet, and a degree of micrognathia (Figure 1). She had a nasogastric tube in situ. Her tone was slightly reduced in all 4 limbs with brisk reflexes detected in the lower limbs, and bilateral striatal large toe was noted in addition to poorly coordinated, jerky movements. No peripheral neuropathy was found on examination, and nerve conduction studies were not performed due to the rapid progression of the patient.\nCerebrospinal fluid (CSF) and serum analysis showed significantly raised lactate levels of 5.1 mmol/L (reference range 1.1-2.4 mmol/L) and 4.7 mmol/L (reference range 0.6-2.5 mmol/L), respectively. Brain imaging with MRI revealed bilateral and symmetrical high intensity on T2 with restricted diffusion on diffusion-weighted imaging in the lentiform nuclei, putamen, and globus pallidus. There was a slight enlargement of the ventricles, suggestive of early volume loss, and evidence of change in the cerebral peduncles and midbrain (Figure 2).\nGiven the investigation results and clinical features, a neurometabolic condition with an underlying genetic cause was thought to be most likely. Rapid trio whole exome sequencing (R14), mitochondrial genome analysis, and CGH array were therefore undertaken. Exome sequencing revealed the presence of a heterozygous, de novo pathogenic missense variant in the MORC2 gene, NM_001303256.3: c.262G > C p. (Ala88Pro). Although this was a novel variant, other distinct missense variants affecting the same and adjacent residues (positions 88 and 87) have been reported as pathogenic in the literature, both clinically with the presence of CMT and in functional assays. Application of the January 2018 ClinGen SVI Bayesian classification framework to the variant seen in the patient showed the posterior probability to be 0.999, classifying the variant as unambiguously pathogenic. The presence of this variant in the context of the displayed clinical features established the diagnosis of a MORC2-related neurodevelopmental disorder. Microarray analysis showed a 14 Kb heterozygous interstitial loss of 12q21.31 of unclear significance, with a dosage sensitivity score of -1.73 and a sampling probability of >5%, denoting a low chance of pathogenicity. Mitochondrial genome analysis of blood cells identified no known or likely pathogenic variants following sequencing, diminishing the likelihood of a coexisting mitochondrial disorder.\nOver the next month, the patient's health continued to deteriorate significantly, with regular episodes of choking, gagging and respiratory distress, and further regression of motor skills with increasing fatigue. The parents found it increasingly challenging to meet her care requirements, at times needing to support and maintain her airway; after discussion with the paediatric neurology and palliative care teams, they decided to focus on optimising quality of life with supportive hospice care. The patient subsequently died at 13 months of age.",
"gender": "Female"
}
] |
PMC10776187
|
[
{
"age": 30,
"case_id": "PMC11244626_01",
"case_text": "Our patient is a 30-year-old Nepalese lady with unremarkable past medical and surgical history who presented to the hospital complaining of recurrent episodes of blindness in the left eye for one-week duration. She was referred from a Primary Health Care Center to Hamad General Hospital located in Doha, Qatar.\nAccording to our patient, she experienced attacks of blurred vision, followed by complete loss of vision in her left eye. She reported that blurring of vision lasted for few seconds followed by instantaneous loss of vision representing curtains falling over her vision. Each episode lasted 3-5 minutes, after which her vision recovers completely without blotching. She denied experiencing unusual fatigue, numbness, diplopia, slurred speech, or headache. She denied witnessing flashes of light, experiencing eye discomfort or photophobia. She also denied having eye pain, redness, or itching. She had no history of trauma, loss of consciousness, vomiting, fever, or weight loss. She stated that she experiences occasional, mild headaches which respond to simple analgesics.\nThe general physical examination was unrevealing. She was afebrile and was vitally stable A neurological examination confirmed that the patient was aware and attentive, with normal brain function. There were no localizing neurological impairments, and examination of the cranial nerves was unremarkable. She also underwent an ophthalmological assessment which was also unremarkable with 20/20 visual acuity, normal reactive pupils, no relative afferent pupillary defect, full color vision, and normal disc and macula. The patient was hospitalized for further workup of her transient monocular vision loss.\nBasic laboratory tests, including hemoglobin, red blood cells, platelets, and white blood cells with differentials, were normal on admission. The coagulation panel, as well as the renal, hepatic, and thyroid function tests were all unremarkable. Serum electrolytes, vitamin B12, lipid panel, glucose, CRP, and HbA1C% levels were all normal as well.\nMRI orbit revealed a focal area of thickening and postcontrast enhancement in the medial aspect of the mid-intracanalicular part of the left optic nerve sheath for segment length of 8 mm (Figures 1 and 2, arrow) with subtle fat stranding in the same region. The right optic nerve appeared unremarkable. The rest of the intraorbital structures appeared unremarkable bilaterally. No localized brain parenchymal regions of diffusion limitation were seen on MRI. There were no signs of acute cerebral hemorrhage. The brain parenchymal signal intensity was grossly unremarkable. There was no midline shift or mass impact. The ventricular system and basal cisterns were still preserved. The structures of the posterior fossa were unremarkable. There was no abnormal brain parenchymal enhancement after contrast. \nMRI of the spine showed normal spinal cord with no abnormal intermedullary T2 signal intensity or postcontrast enhancement. Neck and intracranial MRA appeared unremarkable with no major vascular occlusion, stenosis, or aneurysm formation.\nThe final impression was left optic nerve enhancement as described above, suggestive of focal optic perineuritis of the left optic nerve, which clinically correlated with the chief complaint of the patient.\nFollowing the results of the MRI, further workup to discern the etiology of the findings was carried out. Autoimmune, atherosclerotic, or infectious etiologies were considered.\nPatient was in normal sinus rhythm, with unremarkable contrast-enhanced echocardiography and carotid artery duplex ultrasonography. There were no suggestive features of tuberculosis or sarcoidosis on chest X-ray. Autoimmune panel including rheumatoid factor, anti-CCP, ANCA, C3, C4 was negative.\nAdditionally, a lumbar puncture was performed, and CSF examination revealed normal cell counts, protein levels, and glucose level. The level of IgG in the CSF was 44 mg/L (normal <34 mg/L) with a normal index of 0.5. There were no oligoclonal bands. Further analysis of CSF including VDRL screening, culture, cryptococcal antigen, and acid-fast bacilli smear and cytology was all negative. A viral panel tested negative for HSV1, HSV2, VZV, mumps, parecho virus, enterovirus, and COVID-19.\nA visual evoked potential test was done and was normal for both eyes, with no evidence of optic neuropathy on either side.\nThe patient experienced repeated episodes of vision loss while in the hospital too, however, these episodes were shorter and lasted only for few seconds. She was started on 1 mg IV methylprednisolone for 3 days. She noted that her symptoms had improved after receiving treatment. Patient was discharged after 4 days with a follow-up appointment 3 weeks later.\nAt her follow-up appointment 3 weeks later, the patient disclosed that her symptoms had resolved completely and had not reoccurred. Physical examination was normal, and she was scheduled for a repeat MRI and a follow-up appointment in six months. Idiopathic left optic perineuritis was the final determined diagnosis.",
"gender": "Female"
}
] |
PMC11244626
|
[
{
"age": 54,
"case_id": "PMC10584664_01",
"case_text": "A 54-year-old male patient with no medical history presented to our hospital with vomiting. He was previously admitted to another hospital for the aforementioned complaint. One week after admission, he was referred to our hospital due to left hemiplegia and seizures. On arrival, he manifested generalized tonic-clonic seizures and was considered status epilepticus. He was subsequently intubated and sedated deeply in order to control his seizures. Head plain computed tomography (CT) revealed a subcortical and subarachnoid hemorrhage in his right frontal and parietal lobes and narrowing sulci, which indicate cerebral edema (Fig. 1A). Contrast-enhanced CT revealed contrast defects, which suggest the presence of a thrombus in the superior sagittal sinus (SSS) (Fig. 1B) and venous sinus obstruction from the anterior half of the SSS. His blood tests showed a high D-dimer level of 6.36 mug/mL. Intracranial hypertension due to CVST was thus suspected; however, the patient was under deep sedation, and assessing his level of consciousness was difficult. Therefore, he was immediately attached to an ICP monitor with ICP Express (Integra LifeSciences, Princeton, New Jersey, USA) intracranially. Although the ICP was as high as 25 cmH2O immediately after implantation, the hematoma volume was not large; it was also determined that cerebral edema due to impaired venous perfusion caused the increase in ICP. Following heparin administration, cerebral angiography was performed to evaluate the hemodynamics related to venous return.\nBilateral internal carotid angiography (ICAG) revealed extensive venous sinus obstruction from the anterior half of the SSS to the bilateral transverse sinus (TS) and sigmoid sinus (SS) (Fig. 2). Furthermore, there was a noted marked delay in cortical venous perfusion, with the pterygoid venous plexus as their main drainage route. To rapidly improve venous perfusion, MT for CVST was performed. A 9-French (Fr) long sheath was inserted into the right femoral vein, and 8-Fr FUBUKI guiding catheter (Asahi Intecc Co., Ltd., Aichi, Japan), AXS Catalyst 6 distal access catheter (Stryker Neurovascular, Kalamazoo, Michigan, USA), Trevo Trak 21 microcatheter (Stryker Neurovascular), and CHIKAI 0.014-inch microguidewire (Asahi Intecc Co., Ltd.) were used as the coaxial system. First, the FUBUKI guiding catheter was implanted into the right internal jugular vein, which then guided Trak 21 to the right SS and TS (Fig. 3A). Furthermore, we attempted to remove the thrombus via a direct aspiration first pass technique (ADAPT)) using the Catalyst 6 distal access catheter. A large amount of red thrombus was then retrieved, and partial recanalization of the right SS and TS was achieved. Subsequently, partial recanalization was obtained from the right TS to the confluence of the sinus by repeating the ADAPT and performing the stent retriever assisted vacuum-locked extraction (SAVE) technique) using the Trevo NXT 6 x 37 mm stent (Stryker Neurovascular) (Fig. 3B). At this point, the ICP was noted to remain high at 20 cmH2O. Next, the catheters were advanced to the SSS. The parietal occlusion could be passed, but the frontal occlusion could not be passed (Fig. 3C). However, since preoperative CT showed cerebral edema mainly in the parietal lobe, we thought it would be effective to first perform thrombectomy of the parietal SSS. The ADAPT and SAVE techniques were then repeated to retrieve the thrombus, and partial recanalization of the parietal SSS was observed (Fig. 3D). In the same way, MT was undergone from parietal SSS to the confluence of the sinus. Although the frontal SSS occlusion could not be reopened until the end, the ICAG showed partial recanalization from the cortical vein to the parietal recanalized SSS to the right IJV (Fig. 3E), and ICP was noted to decrease to 5-10 cmH2O at the time. Furthermore, improving the venous perfusion delay was attained. The treatment goal was achieved, and MT was thereafter terminated.\nAs per on the follow-up cerebral angiography performed the day after MT, it was confirmed that partial recanalization of the cerebral venous sinuses from parietal SSS to the right IJV and improvement in cortical venous perfusion were maintained (Fig. 4A). The ICP averaged 9 cmH2O. After that, ICP remained between 5 and 15 cmH2O on average (Fig. 5), and cerebral angiography on the 4th postoperative day confirmed that cerebral venous perfusion was not impaired. Five days postoperatively, the ICP monitor was removed, and the patient was then extubated. Ten days postoperatively, angiography revealed that the anterior SSS occlusion was released (Fig. 4B). Anticoagulation therapy was continued with heparin (target APTT >= 40 s or twice the normal pretreatment values). After extubation, it was switched to warfarin, and PT-INR was controlled between 2.0 and 3.0.\nThe postoperative clinical outcome was good. He was eventually discharged home following rehabilitation transfer for his left upper extremity paralysis and sensory disturbance of the left fingers. At the time of discharge, his modified Rankin scale (mRS)) was 1.\nCerebral angiography was performed 3 and 12 months after discharge. The venous sinus remained open; however, the wall irregularity from the posterior SSS to the confluence of the sinus has remained (Fig. 4C). Therefore, anticoagulation therapy with warfarin was continued up until the present.",
"gender": "Male"
}
] |
PMC10584664
|
[
{
"age": null,
"case_id": "PMC11220234_01",
"case_text": "Patient History: The patient has a history of liver cirrhosis, hepatitis B, and a splenectomy performed in 2012. In April 2023, HCC was detected, accompanied by PVT, hypertension, and alterations in the portal vein. The initial Barcelona Clinic Liver Cancer (BCLC) staging was B-C due to thrombus uncertainty and carcinoma concerns. Before admission, the patient experienced gastrointestinal bleeding. On 13 November, 2023, varices were detected during an esophagogastroduodenoscopy. On 16 November, 2023, an enhanced CT scan showed no significant changes in the tumor compared to the initial CT scan. However, abnormal perfusion patterns were seen around it, mostly in liver segments I, VI, and VII (see Figure 2A). The liver is affected by cirrhosis, and the spleen has been removed. The portal vein is occluded and demonstrates fibrosis, with collateral circulation present. Additionally, there is mild intrahepatic bile duct dilation and fluid accumulation in the abdomen (see Figure 2B).",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11220234_02",
"case_text": "A multidisciplinary discussion ruled out band ligation for variceal bleeding due to its risk and ineffectiveness. Consequently, a TIPS procedure was selected as an alternative intervention. Initially, attempts through the jugular vein pathway failed, leading to the involvement of the surgery and anesthesia departments to execute the modified TIPS strategy. An 8-mm Viatorr-coated stent (W. L. Gore & Associates, Flagstaff, Arizona, USA) was used to create a shunt channel extending from the proximal hepatic vein to the main portal vein. Considering the patient's long-standing PVT and local narrowing of the mesenteric veins, the stent placement area was extended during the procedure using an 8-mm smart bare metal stent (Cordis Corporation, Milpitas, California, USA). Throughout the procedure, the partial pressure gradient (PPG) remained below 10 mm Hg. Prior to the TIPS development, the PPG was 10 mm Hg. The Viatorr TIPS-covered stent (7 cm polytetrafluoroethylene cover and 2 cm bare metal segment) was inserted into the portal vein, dilated to 8 mm, reducing the PPG to 4 mmHg. The stent's upper end (6-cm bare metal stent) extended to the border between the liver and the heart. The intestinal mesenteric thrombus was cleared during the procedure, with no persistent thrombosis detected. Subsequent angiography showed significant local mesenteric vein stenosis. To prevent postoperative thrombosis and associated complications, the narrowed segment was dilated with a balloon, and an 8-cm bare metal smart stent was placed to restore potency in the narrowed area of the mesenteric vein, as shown in the picture. After surgery, the patient developed pneumonia. A chest X-ray on 29 November 2023, 2023 showed bilateral inflammatory infiltrates with slight left lower lung field progression since 22 November, 2023. The patient's condition improved with treatment. Subsequent CT scans showed favorable outcomes without signs of gastrointestinal bleeding or hepatic encephalopathy.",
"gender": "Unknown"
}
] |
PMC11220234
|
[
{
"age": 32,
"case_id": "PMC10547568_01",
"case_text": "A 32-year-old unmarried woman with a history of SLE was admitted to a local hospital on October 27, 2021, owing to complaints of severe upper abdominal pain, limb weakness, and low appetite. She took hydroxychloroquine and prednisone for the treatment of SLE before and had discontinued the drugs for 1 year. She did not complain of nausea, vomiting, and fever. Her blood pressure, heart rate, and temperature were normal at the time of admission; however, serum sodium levels had decreased to 128 mmol/L. She was initially diagnosed with gastroenteritis. Although she received intravenous antibiotics, she continued to complain of upper abdominal pain and limb weakness. Thereafter, whole abdominal computed tomography (CT) revealed bilateral adrenal masses (see Figure 1(a) for the CT image taken at a local hospital). Spiral CT of these bilateral adrenal masses revealed that the center of the right mass was significantly strengthened, with a mean CT value of approximately 58 Hounsfield units (HU); the left mass had a CT value of 30 HU. Abnormal adrenocortical hormone levels were noted, with cortisol levels decreasing to 8.43 nmol/L (reference range, 185-624 nmol/L) at 8 AM and adrenocorticotropic hormone (ACTH) being >1250 pg/mL (reference range, 5-46 pg/mL) at 8 AM (refer to Table 1 for laboratory blood test results); therefore, the patient was diagnosed with adrenal insufficiency. The autoimmune workup confirmed the presence of lupus anticoagulant (LA) and anti-dsDNA, antihistone, anticardiolipin (aCL), and anti-beta2 glycoprotein I antibodies (Table 2). The next day, her abdominal pain spontaneously disappeared; however, limb weakness and loss of appetite did not improve. Surgery was suggested by the doctor in local hospital to identify the nature of the bilateral adrenal masses. She refused to undergo surgery and was discharged with a prescription for hydrocortisone 20 mg at 8 AM and 10 mg at 4 PM.\nOn November 10, 2021, the patient was admitted to our hospital for further treatment. At the time of admission, she still complained of weight loss and limb weakness; however, she did not have a fever, abdominal pain, and hypotension (blood pressure, 111/89 mmHg). Physical examination revealed hyperpigmentation on her finger joints. However, no facial rash, oral ulceration, or Raynaud's phenomenon was observed. Meanwhile, her body and sexual organs had developed normally (height and weight were 155 cm and 50 kg, respectively). Examinations revealed hyponatremia, decreased plasma cortisol levels, and increased ACTH and renin levels. Also, the aldosterone level was normal (Tables 1 and 2). Furthermore, abnormal coagulation status was confirmed based on the significantly high activated partial thromboplastin time of 100.9 s (reference range 28.0-40.0 s). Meanwhile, erythrocytes, leucocytes, platelets, liver enzymes, creatinine, T-spot test, tumor and inflammatory makers, testosterone, estradiol, follicle-stimulating hormone, progesterone, luteinizing hormone, and 17-hydroxyprogesterone (17-OHP) were all within normal limits. A rheumatologist was consulted. Subsequently, abnormal autoimmune antibody and coagulation status findings confirmed the diagnosis of APS secondary to SLE. She was administered hydroxychloroquine 100 mg two times a day and aspirin 0.1 g once a day. Furthermore, a prescription for hydrocortisone was provided to her as before. Moreover, instead of performing puncture surgery of the adrenal masses, repeated enhanced bilateral adrenal CT was performed, which revealed two low-density nodular shadows located on both adrenal glands; the right shadow was 30 x 20 mm and the left shadow was 20 x 15 mm (Figure 1(b)), with mean CT values of 15 and 12 HU, respectively. In other words, her adrenal glands were cystic rather than normal because the optimal critical value of the adrenal glands is 10 HU. Referring to ESE and ENSAT guidelines, if CT demonstrates a homogeneous adrenal mass with unenhanced HU between 11 and 20 and a tumor size <4 cm, an immediate additional imaging to avoid any follow-up imaging can be performed. The use of adrenal biopsy is recommended if clinical management would be altered by knowledge of the adrenal mass histology.\nAfter carefully comparing these adrenal CT images, the patient was diagnosed with adrenal hemorrhage associated with APS secondary to SLE. Irregular antirheumatic therapy was considered a risk factor for adrenal hemorrhage for her. Nevertheless, weakness and anorexia gradually improved after hydrocortisone treatment during hospitalization. Finally, the patient was discharged with a prescription for hydrocortisone, hydroxychloroquine, and aspirin, as mentioned above.\nDuring the third follow-up visit, on February 24, 2022, the patient was undergoing steroid replacement, antirheumatic, and aspirin therapy and remained in a good condition. Repeat CT scan values of the left and right adrenal glands were 30 and 38 HU, respectively (Figure 1(c)). However, laboratory tests still revealed decreasing serum cortisol and increasing ACTH levels at both 8 AM and 4 PM (Table 1). Considering hydrocortisone might not provide a sufficient suppression of the ACTH levels for its short-acting feature, the patient was prescribed prednisone 5 mg bid, hydroxychloroquine 100 mg bid, aspirin 0.1 g qd, and atorvastatin 20 mg qn. On March 21, 2022, she was confirmed to be 5 weeks pregnant. During her pregnancy, she stopped taking atorvastatin but continued taking prednisone, hydroxychloroquine, and aspirin without decreasing the dosage. Fortunately, in November 2022, she gave birth to a healthy baby girl without spontaneous abortion, thrombocytopenia, or recurrent thrombosis. She continued taking prednisone, hydroxychloroquine, and aspirin after delivery. However, she refused a reevaluation of adrenal function and imaging. Nevertheless, she required long-term follow-up.",
"gender": "Female"
}
] |
PMC10547568
|
[
{
"age": 30,
"case_id": "PMC10550437_01",
"case_text": "A 30-year-old man with DM2 presented to the Department of Neurology, Zealand University Hospital, with blurred vision on the left eye (LE).\nInitial laboratory work-up during admission revealed very high hyperlipidemia with blood triglyceride levels of 2850 mg/dL (normal < 150 mg/dL), high blood cholesterol (6.9 mmol/L, normal < 5.0 mmol/L), blood glucose (23 mmol/L, normal: 4.2-6.3 mmol/L), and HbA1c (117 mmol/mol, normal < 48 mmol/mol) and normal haemoglobin (9.8 mmol/L), thrombocytes (156 x 109/L), white blood cells (8.8 x 109/L), and thyrotropin (1.9 x 10-3 IU/L). Computed tomography (CT) of the brain and transthoracic echocardiography were without abnormal findings, whereas ultrasound examination of the carotid arteries showed uniformly echogenic atherosclerotic plaque (type 4) at the level of carotid sinus on the left side and hypoechogenic plaque (type 2) on the right side, neither of them causing significant stenosis.\nThe patient admitted to have discontinued all medications for the last 18 months.\nBecause of persisting visual deterioration on the LE, he was referred to the Department of Ophthalmology, Zealand University Hospital.\nOn presentation, visual acuity on the right eye (RE) and LE was 20/20 and 20/60 (Snellen's acuity test). Slit lamp examination was normal in both eyes. Mydriatic fundus examination of the RE and LE showed proliferative diabetic retinopathy with new vessel formation on the optic disc and retina. Furthermore, fundus examination of the LE was notable for opaque milky white material segmentally filling the lumen of both arteries and veins. The white retinal aggregates were interrupted by blood filled vascular segments (Figure 1), and a \"cherry red spot\" was present in the macula (Figure 1).\nSerial fundus photography of the LE manifested movement of the intravascular lesions downstream the circulation (Figure 2).\nFluorescein angiography (FA) of the LE showed delayed choroidal and retinal arteriovenous phase that was protracted but without blockage in the flow of dye in the lipid laden vessels (Figure 3). The arteriovenous phase was delayed as well. In the venous phase, there was capillary bed leakage and focal areas of capillary dropout (Figure 3(d)).\nOn OCT (Spectralis, Heidelberg Engineering ), there was linear hyperdensity at the level of deep capillary plexus on the inner side of outer plexiform layer, compatible with a prominent middle limiting membrane sign (p-MLM) (Figure 4). There was noted increased thickness of the choroid on OCT (subfoveal choroidal thickness of 452 mum) (Figure 4).\nNear infrared and autofluorescence imaging (Spectralis, Heidelberg Engineering ) of the fundus of the LE showed increased infrared reflection and autofluorescence from the affected arterial and venous segments (Figures 4 and 5).\nThe condition suggested retinal ischemia in LE in connection with the build-up of the opaque milky white fat aggregates in the lumen of retinal vessels. The patient was admitted to the department of Internal Medicine, Zealand University Hospital, and started on insulin and atorvastatin therapy with rapid elimination of the white lesions one day later (Figure 6). A decrease in blood trigylceride (394.7 mg/L), cholesterol (3.5 mmol/L) and glucose levels (4.0 mmol/L) were recorded the days following admission. Visual acuity at 5 weeks was 20/20 on the RE and 20/60 on the LE, and inner retinal layer thinning at the macula was evident (Figure 7).\nPanretinal laser photocoagulation for proliferative diabetic retinopathy was subsequently performed in both eyes.",
"gender": "Male"
}
] |
PMC10550437
|
[
{
"age": 46,
"case_id": "PMC10705509_01",
"case_text": "A 46-year-old Japanese man with no specific medical history presented to the emergency room complaining of perioral pain, neck and shoulder stiffness, and difficulty opening his mouth, which started two days before admission. He had no history of trauma or drug use but had experienced canine bite injuries on his right hand 3 weeks prior (Figure 1A and B). He was asked by a friend to look after a pet canine with rabies immunization for a couple of days. When he first met that canine, he tried to touch the canine's head, but he startled the canine and the canine bit his right hand. The patient had not been vaccinated against tetanus. He washed his right hand immediately after being bitten by the canine. He received 250 units of human tetanus immunoglobulin (HTIG) intramuscularly and the tetanus toxoid vaccine subcutaneously the following day at a hospital near his home. The use of HTIG to neutralize unbound tetanus toxin is associated with improved survival and is considered the standard care to prevent tetanus after an injury. The United States Centers for Disease Control and Prevention recommends a single dose of HTIG intramuscularly in addition to wound management, antimicrobial therapy, and tetanus toxoid vaccination. On admission, the patient was conscious. Although he did not have difficulty speaking, he complained of difficulty swallowing solid foods. His blood pressure, heart rate, body temperature, and respiratory rate were 137/85 mmHg, 78 beats/min, 36.4 C, and 16 breaths/min, respectively. Physical examination revealed hypertonicity, particularly of the left upper limb. He could open his mouth to a maximum of 1.5 fingers width (Figure 2A), and there were no breathing difficulties. In addition, we found that the patient experienced laughter spasms (Figure 2B). Manual muscle testing of both upper limbs revealed a grade 4 result (implying that the patient could complete the full range of motion [movement] against gravity while the practitioner applies moderate resistance), with no evidence of weakness in the lower limbs. Trigeminal paralysis (mandibular area) was observed, but the sensation was normal. Cardiovascular, respiratory, and abdominal examination results were normal. The wound on the right hand had healed; therefore, no additional cleaning or treatment of the patient's right hand was required. Blood tests showed normal white blood cell count (6700 cells/mm3, normal range: 3300-8600 cells/mm3) and biochemical blood test results, except for a slight elevation in C-reactive protein (1.64 mg/dL, normal range: <=0.04 mg/dL). Urine test results were normal. The differential diagnoses were tetany due to hypocalcemia, rabies, or Strychnine poisoning. These differential diagnoses were ruled out because the serum calcium levels were normal (9.0 mg/dL, normal range: 8.8-10.1 mg/dL); the patient did not have symptoms specific to rabies, such as mydriasis, increased salivation, and hydrophobia; and there was no definite history of poisoning.\nBased on the clinical findings, intravenous antibiotic metronidazole (500 mg every 8 h) was initiated, and 1500 units of HTIG was also injected into the deltoid muscle of the right upper arm following the diagnosis of generalized tetanus.\nAlthough the patient's wound was classified as category III exposure according to the World Health Organization rabies exposure categories, we did not administer anti-rabies vaccine to the patient because the dog that bit the patient had already been vaccinated against rabies, and no human case of rabies has been reported in Japan since 1956. In addition, no outbreak of rabies in animals has occurred since 1957, when there was an outbreak in cats. Currently, Japan is a rabies-free country.\nSurgical debridement was not performed as the wound on his right hand had healed. Subsequently, the patient's condition improved gradually. The perioral, neck, and shoulder pain disappeared on hospitalization day 5, and the patient started opening his mouth 7 days after starting treatment (Figure 2C and D). His clinical course was good without exacerbation, and the patient was able to eat and drink without difficulty on day 8 after hospitalization. The patient received metronidazole intravenously for 10 days. The patient was discharged after a 12-day hospital stay (Figure 3). The patient was informed of the importance of vaccination for tetanus prevention and completed a primary series of tetanus toxoid vaccinations after discharge. The canine that bit his hand did not show any signs of illness for 4 weeks during the period in which it was kept in his care. Therefore, we thought it unlikely that the canine had tetanus or rabies.",
"gender": "Male"
}
] |
PMC10705509
|
[
{
"age": 76,
"case_id": "PMC10722158_01",
"case_text": "A 76-year-old man was admitted to our hospital on October 12, 2022, with dizziness and fatigue for 6 months that had aggravated one month prior. The patient had a history of hypertension for over 20 years and type 2 diabetes mellitus and renal insufficiency for 8 and 2 years, respectively. After admission, a complete routine peripheral blood examination showed a white blood cell count of 1.26*10^9/L, red blood cell count of 1.44*10^12/L, monocyte cell count of 0.05*10^9/L, neutrophil cell count of 0.38*10^9/L, hemoglobin level of 51.0 g/L and platelet count of 32*10^9/L. The lymphocyte count was normal. The fibrinogen and D-dimer levels were 3.30 g/L (reference values [ref.] 2.00-4.00 g/L) and 0.55 mg/L (ref. 0.00-0.55 mug/mL), respectively. The prothrombin and activated partial thromboplastin time were 12.5 s (ref. 10.0-14.0 s) and 27.2 s (ref. 25-31.3 s), respectively.\nTo understand the cytological morphology, we observed the bone marrow smear of the patient and found that bone marrow cells proliferation and granulocyte proliferation were markedly high. The proportion of primitive granulocytes was 28%, and that of promyelocytes was as high as 56.5%. In addition, Wright Giemsa staining showed that erythrocyte and lymphocytic proliferation were inhibited ( Figure 1A ). We further performed peroxidase staining test and found that the results of peroxidase staining of the bone marrow cell smear were positive ( Figure 1B ). Immunophenotyping by flow cytometry showed that the granulocyte population accounted for 58.5%, and these cells were positive for CD117, CD33, and CD38; weakly expressed CD13, CD4, CD64, and CD45; and negative for CD7, CD34, HLA-DR, CD10, CD20, CD19, CD14, CD2, CD15, CD11B, CD56, CD8, and CD3.\nSubsequently, the karyotype of the patient was analyzed. The results revealed a complex karyotype of 73-80, XXY, +1, +2, -3, +4, +6,?der (7), +8, -9, -9, -11, -11, -12, +13, +14, +15, +15, +16, ?17, der (17)?i(17q), +19, +19, +20, +21, +22, +mar, inc[CP3]/45, X, -Y[5]/46, XY[2]. FISH showed no evidence of PML::RARA fusion invloving t (15, 17)(q24; q21) but showed a higher fluorescence signal (normally 2 red and 2 green in single cell, now 4 red and 4 green), indicating gene amplification or +15,+15,+17,+17, which may originate from aberrant cells ( Figure 1C ). To further identify whether there were molecular variations involving essential genes functioning in hematopoietic malignancies, we used a 45-gene panel to detect gene mutations and a 53-gene panel to conduct a more comprehensive fusion screening using targeted RNA sequencing. Gene mutation results showed that TP53 p.Arg273Cys was detected with a mutation allele frequency (MAF) of 81.4%. WT1 p.Thr277Ile was detected, and the WT1 mutation was suspected to be a germline mutation, based on the MAF of 67.10%. We used STAR software for bioinformatics analysis to predict fusion genes, with the reference genome being hg38. The LYN::LINC01900 transcript, which is a fusion of LYN (NM_001111097.3) exon 8 with LINC01900 (NC_000018.10) exon 2, was detected at a relative transcript expression level of 15.92% normalized to the reference gene ABL1 ( Figures 2A, B ). We then performed agarose gel electrophoresis on the amplified products (water as a blank control and healthy donor cDNA as a negative control). A band with a length of 230 bp was detected (100 bp of marker), while the reciprocal fusion LINC01900::LYN was not found, consistent with the RNA-targeted sequencing results ( Figure 2C ). Sanger sequencing of the targeted fusion product confirmed the presence of the LINC01900::LYN fusion transcript ( Figure 2D ).\nThe standard azacitidine + venetoclax therapy regimen, which consists of venetoclax (100 mg for day 1, 200 mg for day 2, and 400 mg from days 3 to 28), PO QD, and azacitidine (75 mg/m2 from days 1 to 7), subcutaneous injection (s.c.), was recommended according to the 2022 European LeukemiaNet (ELN) recommendations for the diagnosis and management of AML in adults. Considering the patient's renal dysfunction, the treatment was finally adjusted to venetoclax (100 mg on day 1 and 200 mg from days 2 to 21), PO QD, and azacitidine (75 mg/m2 from days 1 to 7), s.c., supplemented with antiemetic treatment at the same time from November 02, 2022. The therapy regimen was adopted after communicating with the patient and their family members. The patient discharged due to economic reasons on November 09, 2022. After discharged, we conducted a follow-up finding that the patient continued the therapy of venetoclax (200 mg, PO QD) as we suggested until November 22, 2022. Unfortunately, no further clinical outcomes were monitored because the patient died of COVID-19 infection on December 2022 ( Figure 3 ).",
"gender": "Male"
}
] |
PMC10722158
|
[
{
"age": 52,
"case_id": "PMC11329603_01",
"case_text": "A 52-year-old female with a history of pulmonary tuberculosis for over 6 months underwent standard isoniazid/rifampicin/pyrazinamide/ethambutol (HRZE) treatment (Supplementary Table 1). However, her pulmonary lesion absorption remained unsatisfactory. On July 12, 2022, testing was performed using Middlebrook 7H9 liquid medium in the BACTEC MGIT 960 culture detection system (Becton, Dickinson and Company, USA). The M. tuberculosis sputum cultures and drug susceptibility testing (DST) revealed resistance to H/R/E/levofloxacin (LFX)/moxifloxacin (MFX)/amikacin (AM)/streptomycin (S)/kanamycin (CM), diagnosing the patient with pre-extensively drug-resistant tuberculosis (pre-XDR TB). According to the 2019 \"Comprehensive Guide for Drug-Resistant Tuberculosis\", the prescribed treatment regimen included Bedaquiline (BDQ), LZD, Clofazimine (CFZ), Cycloserine (CS), Prothionamide (PTO), and Pyrazinamide (Z). On 16th September, the patient presented to our department with symptoms of cough, sputum production, chest tightness, fever, and fatigue for one week. Upon admission, her WBC count was 5.74x 109/L, with a NEUT ratio of 77.2%, red blood cell(RBC) count was 2.63x 1012/L, HGB was 73g/L, platelet(PLT) count was 254x 109/L, C-reactive protein(CRP) level of 14.22 mg/L, and normal procalcitonin(PCT) levels (<0.040 ng/mL). The patient received antimicrobial therapy with piperacillin and tazobactam sodium injections at 4.5 g q8h during TB treatment. On the evening of September 19, she developed a high fever of 40 C and transient confusion. Further investigations revealed severe anemia (HGB, 56 g/L; RBC, 1.95x109/L; Reticulocyte (RET), 4x 109/L) and an elevated PCT level of 0.42 ng/mL. A chest computed tomography (CT) scan indicated worsened lesions, suggesting a possible TB-complicated bacterial infection. We have ruled out anemia caused by chronic diseases or other reasons. Severe anemia was considered to be related to the anti-TB medication (LZD), which led to discontinuation of LZD. The patient received a blood transfusion and supportive therapy to correct anemia, and Meropenem 1.0 g q8h was initiated as antimicrobial therapy. After 6 days, her anemia improved, with HGB rising to 94g/L. The LZD dosage was reduced to 0.3 g once daily. However, the patient continued to experience fatigue, and routine blood tests revealed moderate anemia during this period. On November 18, 2022, CZD was initiated as continuous treatment. A follow-up blood test on January 4, 2023, showed an HGB of 94 g/L, indicating gradual improvement in anemia symptoms. The patient's HGB and RET gradually increased and remained above 100 g/L from May 25, 2023 (Figure 1) (Supplementary Figure 1). Regular chest CT scans were conducted to monitor treatment efficacy (Figure 2), revealing increased absorption of lesions compared to earlier scans. Over the past six months, chest CT scans indicated that pulmonary lesions remained largely stable, however, structural damage had occurred in the lungs, such as partial lesion destruction and cavitation shadows, which were irreversible and unabsorbable. Furthermore, five consecutive sputum Mycobacterium cultures returned negative results, indicating a favorable treatment response.",
"gender": "Female"
},
{
"age": 43,
"case_id": "PMC11329603_02",
"case_text": "A 43-year-old woman presented with a history of recurrent cough and sputum for over a year and intermittent fever for the past two months. A chest CT revealed destruction of the left lung, lesions in the right lung with bilateral pleural effusion, and detection of M. tuberculosis by sputum smear. The patient received HRZE treatment for 10 days; however, intermittent fever persisted. On 26th September 2022, the sputum culture results indicated positivity for M. tuberculosis, intermediate susceptibility to Lfx, and resistance to H/R/Mfx, resulting in a diagnosis of pre-XDR-TB. Blood routine showed that HGB was 97g/L, and RBC count was 3.24*1012/L. Due to economic reasons, the use of BDQ was declined. Considering that this is a new case of TB in which LFX was not previously administered, the following treatment regimen was established on 8th October: LFX-LZD-CFZ-CS-Z-AM. The patient revisited our department on December 28 due to chest tightness and palpitations lasting a week. Her HGB level was 82 g/L, blood potassium was 3.12 mmol/L, and electrocardiography revealed frequent premature ventricular beats and prolonged QTc (corrected for heart rate: QTcF 491ms). We have ruled out anemia caused by chronic diseases or other reasons. We considered that the anemia was related to LZD, which led to its discontinuation. The patient received potassium supplementation, nutritional support, and symptomatic treatment for myocardial function. On 18th January 2023, a follow-up electrocardiogram revealed a normalized QTcF of 416ms. On 10th January, the anti-TB treatment was adjusted to CZD. AM therapy was discontinued after 36 weeks, and BDQ was added on September 8th. Regular blood testing showed a gradual increase in HGB levels from 82g/L on December 29, 2022, to over 100g/L on January 29, 2024, with the highest level recorded as 111g/L on November 27, 2023 (Figure 3). Follow-up chest CT showed improvement and stabilization of the lesions. Three consecutive sputum cultures yielded negative results. The patient experienced significant improvement in palpitations and chest tightness, indicating the effectiveness of the treatment.",
"gender": "Female"
},
{
"age": 44,
"case_id": "PMC11329603_03",
"case_text": "The patient, a 44-year-old woman with a 25-year history of drug-resistant tuberculosis (DR-TB), had been irregularly taking medication, including intermittent use of MFX and other drugs. On August 23, 2022, she experienced worsening cough and sputum symptoms. M. tuberculosis sputum cultures and DST indicated resistance to H/R/LFX/MFX/Streptomy(S) and intermediate resistance to E, suggestive of pre-XDR-TB. Routine blood examinations revealed moderate anemia (Hemoglobin, 88 g/L), and chest CT revealed bilateral TB lesions, bronchiectasis, cavities, and destruction of the left lung. The patient was initiated on the following treatment regimen: BDQ-LZD-CFZ-CS-PA (Pasiniazid). Due to severe anemia (HGB 56g/L, RET 42x 109/L) on March 27, 2023, LZD therapy was promptly discontinued. With blood transfusions and supportive nutritional therapy, the Hemoglobin rose to 68 g/L by April 5, 2023. We have ruled out anemia caused by chronic diseases or other reasons. Therefore, we attribute the anemia to LZD-induced hematologic toxicity. As a result, the patient's treatment regimen was adjusted to CZD. By November 1, 2023, the HGB had risen to 102 g/L (Figure 4). Six consecutive negative sputum cultures and improvement and stabilization of chest CT lesions suggested the effectiveness of the treatment.",
"gender": "Female"
},
{
"age": 16,
"case_id": "PMC11329603_04",
"case_text": "On August 19, 2021, a 16-year-old boy presented to our department with a one-year history of recurrent cough and sputum. Tracheal endoscopy biopsy revealed extensive caseous necrosis, with acid-fast staining positive. The patient was diagnosed with rifampicin-resistant tuberculosis (RR-TB) based on the culture of M. tuberculosis from sputum and lavage fluid, along with DST. A treatment regimen consisting of LFX-LZD-CFZ-CS-PTO (prothionamide) was established on August 28, along with localized treatment through multiple bronchoscopies. On January 25, 2022, the patient reported abnormalities including altered sensation, numbness, and decreased perception in both lower limbs. Consequently, the LZD dosage was adjusted to 0.3 g once daily. By March 5, increased discomfort in both lower limbs and tingling sensations in both feet prompted a neurological consultation, which suggested drug-induced peripheral neuritis. This led to the discontinuation of H and LZD and the addition of nutritional nerve medications (vitamin B12, vitamin B1, and vitamin B6). LFX was ceased on May 17 due to Achilles tendonitis. Following some improvement in peripheral neuritis, LZD and H were reintroduced. However, on September 3, the patient's symptoms of pain in both lower extremities had worsened, hindering normal walking. Consequently, LZD was replaced with CZD in the anti-TB regimen. Although the patient's lower limb pain gradually improved, numbness and decreased perception persisted. The symptoms of peripheral neuritis did not completely resolve. After over a year of treatment, sputum cultures returned negative results on more than six occasions throughout the treatment period. The patient was considered cured on February 23, 2023 (Figure 5).",
"gender": "Male"
},
{
"age": 48,
"case_id": "PMC11329603_05",
"case_text": "A 48-year-old woman with a 7-year history of Sjogren's syndrome was diagnosed with pulmonary and bronchial TB in 2021 based on the culture of M. tuberculosis in BALF and pathologic examination of bronchial biopsy. She was initially treated with HRE-Mfx for TB; however, the medication was discontinued several times due to recurrent leukopenia and hypokalemia. The patient has no other discomfort symptoms, and a thorough series of tests have ruled out other causes of leukocyte reduction such as tuberculosis bone marrow infiltration. On September 11, the treatment was switched to HP(rifapentine)E. Subsequently, on September 17, due to persistent leukopenia, the treatment was further modified to Mfx-Cs-E. Following culturing and DST of BALF for M. tuberculosis, resistance to H/R/Sm was identified, leading to the diagnosis of MDR-TB. Considering the patient's recurrent leukopenia and neutropenia, we took into account the potential adverse effects of LZD-induced myelosuppression, which could exacerbate the decline in leukocyte and granulocyte counts. Consequently, we opted for CZD therapy directly, formulating the treatment regimen as LFX-CFZ-CS-AM-CZD. AM treatment was halted after 22 weeks due to challenges with injectable medications. Remarkably, the patient's WBC and neutrophil counts showed no further decline throughout nearly two years of treatment, remaining stable at 2-3*10^9/L for WBC and above 1.0*10^9/L for neutrophils, with HGB consistently maintained above 80g/L, and at the time of discontinuation, HGB level was recorded at 117g/L (Figure 6). Additionally, the patient achieved eight consecutive negative sputum cultures and was declared cured on January 11, 2023.",
"gender": "Female"
}
] |
PMC11329603
|
[
{
"age": 45,
"case_id": "PMC10601945_01",
"case_text": "A 40-45 year-old man was hospitalized because of a creatinine (Cr) of 11.1 mg/dL and new-onset hypertension noted during a primary care evaluation. Several years prior, his Cr was known to be 1.2 mg/dL, and several months before the recent evaluation, he had noted several mildly elevated blood pressures (BPs) of 140s/90s mm Hg. The patient denied any symptoms of headache, chest pain, shortness of breath, edema, nausea, vomiting, reduced appetite, or any previous history of kidney disease. He had used naproxen sodium 220 mg rarely as needed for occasional headaches. He had a past medical history of a seizure disorder and was maintained on lamotrigine 150 mg twice daily. His seizure disorder was currently well controlled, and during evaluation of that problem, he was noted to have nonspecific white matter changes on brain MRI imaging. The rest of his review of symptoms was negative. He denied extremity pain or any gastrointestinal complaints. His family history was positive for hypertension and type 2 diabetes mellitus, but he had no renal disease or other medical problems. His physical exam was normal except for a BP of 163/107 mm Hg and the presence of multiple small, dark red lesions in the lower abdomen and extremities. Initial laboratory data revealed a serum Cr of 11.1 mg/dL, glucose of 72 mg/dL, albumin of 3.9 g/dL, a urine analysis with 1+ blood, 2+ protein, and a urine protein/Cr ratio of 4.9 g/g. Serologic evaluation was non-diagnostic, and a renal ultrasound revealed normal-sized kidneys with thin echogenic cortices and multiple simple cysts. To determine the cause and extent of his kidney disease, he underwent a renal biopsy.\nThe specimen for conventional light microscopy consisted of scant fragments of severely scarred cortex which contained a single globally sclerotic glomerulus; no preserved glomeruli were present for evaluation. Jones methenamine silver stain revealed numerous silver-positive cytoplasmic inclusions in tubular epithelial cells, interstitial macrophages, and few peritubular capillary endothelial cells (shown in Fig. 1a, b). Trichrome stain revealed prominent cytoplasmic vacuolization in the same distribution as the silver-positive inclusions (shown in Fig. 1c). There was near-total tubular atrophy and interstitial fibrosis in the very scant cortex sampled, and one artery displayed moderate intimal fibrosis. While the severe parenchymal scarring and moderate arteriosclerosis could account for the elevated serum Cr, there was insufficient material to determine a morphologic cause for the nephrotic-range proteinuria. The possibility of unsampled secondary focal segmental glomerulosclerosis was a consideration, but no definitive diagnosis could be rendered.\nThe tissue submitted for immunofluorescence microscopy contained seven globally sclerotic glomeruli; no preserved glomeruli were available for evaluation. As such, the possibility of immune complex or complement-mediated glomerular diseases such as membranous nephropathy could not be excluded at this point, and electron microscopy was pending to evaluate for the presence of glomerular deposits (if any) or ultrastructural abnormalities that might account for the nephrotic range proteinuria. Given the extensive cytoplasmic vacuolization noted by light microscopy, a special stain for lipid was performed with oil red O and revealed positive staining within the epithelial cell vacuoles, consistent with lipid accumulation (shown in Fig. 1d). Oil red O is a nonspecific stain for lipid and positive staining is not diagnostic for any particular lipid or lysosomal storage disease. However, accumulation in an abnormal distribution (in podocytes or peritubular capillaries, for example) may indicate abnormal lipid metabolism.\nThe specimen for electron microscopy consisted of a scant fragment of renal cortex containing six glomeruli, five of which were globally sclerotic. The only preserved glomerulus in the entire biopsy was identified, which was considerably enlarged but with an otherwise unremarkable glomerular tuft (shown in Fig. 2a). Glomerulomegaly, as a sequela of hyperfiltration, is a risk factor for secondary focal segmental glomerulosclerosis, although the degree of proteinuria in this patient would be somewhat atypical for a secondary lesion. Notably, the podocytes in this intact glomerulus as well as the globally sclerotic glomeruli contained numerous, prominent, rounded, whorled, and lamellated methylene blue-positive cytoplasmic inclusions (shown in Fig. 2b, c). Similar inclusions were also noted within glomerular peritubular capillary endothelial and mesangial cells, arterial myocytes as well as numerous interstitial macrophages. Ultrastructural analysis confirmed the presence of prominent osmiophilic, concentrically lamellated, whorled inclusions (\"myelin\" bodies) consistent with glycosphingolipid inclusions in the cytoplasm of podocytes (shown in Fig. 3a-c). These ultrastructural inclusions were also present in the cytoplasm of peritubular capillary endothelial cells (shown in Fig. 4a) and vascular smooth muscle cells (shown in Fig. 4b). The cytoplasm of proximal and distal tubular epithelial cells, mesangial cells, and glomerular capillary and peritubular endothelial cells also contained numerous enlarged secondary lysosomes packed with multi-lamellated structures (\"zebra\" bodies) (shown in Fig. 4c, d), some of which were admixed with vesicular structures with a heterogeneous appearance. Similar cytoplasmic inclusions were also noted in vascular myocytes. Unfortunately, there were no preserved glomeruli present in this biopsy; however, if present, one expect to find finely vacuolated/foamy cytoplasm in the podocytes typical of Fabry disease (FD) renal involvement. The findings in this patient's biopsy were highly suggestive of a lysosomal storage disorder, and testing for alpha-galactosidase A levels was performed. The test revealed near-absent enzyme activity, confirming the diagnosis of advanced FD and establishing a cause for the patient's chronic kidney disease (CKD) and nephrotic-range proteinuria.",
"gender": "Male"
}
] |
PMC10601945
|
[
{
"age": 27,
"case_id": "PMC11085029_01",
"case_text": "Our patient was a 27-year-old woman, primigravida. She was attended at the emergency room of the Hospital Universitario of the University of Sao Paulo (HU-USP, Brazil) on May 27, 2021 due to an increase in abdominal volume in the previous two weeks associated with menstrual delay. Ultrasound (US) was performed and showed a single embryo with a heartbeat, gestational age compatible with 5 weeks and 6 days, and a heterogeneous abdominal mass suggestive of uterine myomatosis. On June 14, at 8 weeks and 2 days of gestation, the patient presented an episode of genital bleeding associated with abdominal pain of low intensity and went to the emergency service for evaluation. US was performed, which diagnosed a non-evolutive pregnancy. The patient opted for a conservative approach to spontaneously terminate the pregnancy.\nOn June 17, the patient went to the emergency room at the Hospital das Clinicas, with persistent bleeding and continuous increase of the abdominal volume, without pain or elimination of conceptual products, and she was hospitalized for investigation. MRI was performed on June 18 (Figure 1), which showed an enlarged uterus with an upper limit above the umbilical scar and measuring 22.8x11.8x19.0 cm (volume=2600 cc) and the presence of a voluminous transmural leiomyoma with areas of low signal on T2 images and predominantly hypo-vascular in relation to the myometrium, located on the posterior wall and measuring 18.2x15.8x10.0 cm. The uterine cavity was displaced by the leiomyoma and distended by hematic content (assessment was limited by artifacts) reaching a thickness of 3.8 cm. The significant deviation of the cervical canal due to the effect of the mass could make an active surgical approach difficult. Expectant management was therefore adopted to wait for spontaneous elimination of the abortion (until June 22, 2021).\nHowever, because there was no elimination, after the patient's consent, she received 400 mcg misoprostol vaginally. The cervix was dilated by 1 to 2 cm four hours later and was still shifted to the right due to the obstructing tumor, palpated in the left cul-de-sac. We decided to use manual vacuum aspiration (MVA) guided by US to visualize the endocervical path and uterine cavity. The anterior lip of the cervix was clamped with Pozzi tweezers, and the vacuum cannula was introduced with simultaneous visualization of the endocervical path and uterine cavity by abdominal US. A small amount of material was obtained for anatomopathological (AP) analysis. She was discharged the day after (June 23) without clinical or obstetric complications for the gynecological follow-up of myometrial mass and AP results.\nThe patient attended the gynecology ambulatory clinic on June 30, 2021 and a surgical approach was indicated. Leuprorelin (11.25 mg) was applied on the same day to reduce tumor volume. Laparotomic myomectomy was performed on September 9, 2021, with a vertical myometrium incision with the opening of the cavity and removal of a single myometrial mass measuring about 14 cm at the largest diameter (Figures 2 and 3), without complications. The material was sent for AP analysis. The patient did well in the postoperative period and was discharged after three days. The AP analysis showed a surgical specimen weighing 772 g and histological pattern compatible with uterine leiomyoma with extensive areas of hyalinization suggestive of chronic ischemia and absence of atypia. Hysterosalpingography and hysteroscopy was performed for evaluation of the endometrial cavity, which showed no alteration of uterine cavity and ostia of uterine tubes. A minimum interval of 4 months was recommended before attempting a new pregnancy.",
"gender": "Female"
}
] |
PMC11085029
|
[
{
"age": 25,
"case_id": "PMC11048205_01",
"case_text": "The patient was a 25-year-old male patient who first presented to our hospital emergency department on November 7, 2022 with chief complaints of a 1-week history of productive (yellow-colored foul-smelling phlegm) cough and chest pain associated with low-grade fever and vague crampy abdominal pain of 4 weeks. The patient was chronically sick and had a fever (39.9 C). His respiratory rate was 36, and his oxygen saturation was low (88%) with atmospheric oxygen. His pulse rate was 126, but his blood pressure was within normal range. A fluctuant tender mass extending from the right lower abdominal quadrant to the right flank area was noticed. The CBC test showed an elevated WBC count of 18,000. A chest X-ray revealed massive opacity, air fluid level with costo-phrenic angle obliteration (Figure 1). \nThe patient was diagnosed with perihepatic and perinephric abscess secondary to a possible ruptured appendicitis plus empyema; therefore, an emergency exploratory laparotomy was performed using a midline incision up to the midpoint between the xip sternum and umbilicus. Then the fascia was breached and a capsulated retroperitoneal fluctuating mass (containing the appendix (retrocecal) and massive pus were discovered. Appendectomy was done and the peritoneal cavity washed with three litera of warmed saline and the facia was closed after inserting a drain. Using the chest tube, 1 L pus mixed with blood was drained immediately and 100 mL of pus mixed with blood was drained per day for 3 consecutive days. There were multiple visible fragmented necrotized lung tissues inside the chest tube. Additionally, IV antibiotics (ceftriaxone and metronidazole) were commenced.\nHe stayed in the ICU for 1 week and in the surgical ward for 3 weeks. He was having intermittent fever, otherwise, his condition was normal. The patient attended appointmenta at the surgical referral clinic on different occasions over the following 2 months after discharge, and he was in good health. HIV test result and TB screening tests were negative, and his HA1C was 5.7%. Cytology samples taken from the subphrenic area and peritoneal wash showed the presence of sheets and sheets of neutrophils with a necrotic background.",
"gender": "Male"
}
] |
PMC11048205
|
[
{
"age": 40,
"case_id": "PMC11095242_01",
"case_text": "This is a case of persistent SARS-CoV-2 infection in a 40-year-old man with a history of autologous hematopoietic stem cell transplantation (HSCT) for diffuse large B-cell lymphoma. On September 3, 2020 (day 0 of the disease), six months after HSCT (March 5, 2020), while on maintenance therapy with acyclovir, sulfamethoxazole, trimethoprim, glucocorticoids, and cyclo-phosphamide, the patient began to experience fever (37.8 C), myalgia, and headache. On September 9, he sought medical assistance, underwent blood and swab tests, and was positive for SARS-CoV-2 by nasopharyngeal reverse transcription polymerase chain reaction (RT-PCR). A chest computed tomography (CT) scan revealed interstitial pneumonia restricted to the basal lung areas. The patient was discharged with oral antibiotics (amoxicillin/clavulanate plus azithromycin). A worsening of his symptoms on September 12 led to his return to the hospital, where he was admitted as an inpatient. During this first hospitalization, he received corticosteroids (prednisone) 0.5 mg/kg and a five-day course of ceftriaxone and azithromycin.\nHis clinical status and laboratory outcomes improved, and he was discharged on September 15. On September 18, he noticed new signs of dyspnea with fatigue and chest pain and complained of fever, although this was not measured. This clinical worsening led to a second hospitalization on September 21, which lasted until December 29. This prolonged stay was due to a relapse of his interstitial pneumopathy, with worsening clinical condition, lymphopenia, and low monocyte count. The patient also developed several bacterial infections related to this prolonged hospitalization.\nDue to his severe condition, on October 2, the patient was treated with plasma from individuals who had recovered from COVID 19 (convalescent plasma). The procedure was uneventful, but the patient's condition worsened and he required orotracheal intubation on October 6, as well as increased vasoactive drugs. He also received broad-spectrum antibiotics (linezolid and meropenem) and antifungal therapy (micafungin), but his condition worsened.\nOn October 26, a bronchoalveolar lavage (BAL) revealed that the patient had pneumonia due to Klebsiella sp. and Stenotrophomonas maltophilia, which were diagnosed by polymerase chain reaction (PCR). Despite all these clinical complications, his situation improved and he was discharged from the hospital on December 22.\nOn January 10, the patient developed fever and respiratory distress, and on January 15, he was readmitted to the hospital. At that time, his nasopharyngeal RT-PCR was still positive for SARS-CoV-2, and because of the respiratory decline, which raised concerns of fibrosing pneumonia, he also received intravenous immunoglobulin for one day, as well as daily antibiotics, while on corticosteroids. As his nasopharyngeal RT-PCR remained positive, a second infusion of convalescent plasma was administered on February 12. This led to an increased lymphocyte count and clinical improvement. The patient was discharged from the hospital on March 4.\nDue to the patient's impaired immunological status, persistent symptoms and prolonged positive RT-PCR result, it was decided to investigate the replicative capacity of his SARS-CoV-2 infection. From January 21 to April 9, blood, urine, saliva, and nasopharyngeal and anal swab samples were collected for analysis at weekly intervals.",
"gender": "Male"
}
] |
PMC11095242
|
[
{
"age": 10,
"case_id": "PMC10545459_01",
"case_text": "PHLS is a ten-year-old boy born via C-section due to his mother's preeclampsia at 35 weeks of gestational age. According to Intergrowth-21st growth curves, he was smaller than average for his gestational age, with a birth weight of 1905 g (Z-score: -1.41), a birth length of 42 cm (Z-score: -2.01), and a birth head circumference of 31 cm (Z-score: -0.8). His parents are nonconsanguineous.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC10545459_02",
"case_text": "Since birth, he presented a broad nasal bridge, epicanthal folds, low-set ears, fifth left finger brachydactyly, bilateral clinodactyly of first and fifth fingers and third toes, and fourth and fifth right toes syndactyly. Also, since birth, he had bilateral cryptorchidism, umbilical hernia, and diastasis recti, which were fixed surgically at ten and seven months (Figure 1). During his first two years, he evolved with delayed developmental milestones, moderate left conductive deafness, cafe-au-lait spots, and reduced growth velocity. Moreover, he was diagnosed with epilepsy after vaccination at six months old. He used phenobarbital regularly until he was nine, when it was suspended due to the absence of new seizures. Also, he had left kidney hypoplasia with consequent hypertension, which was diagnosed at the age of nine and treated with 2.5 mg amlodipine. There were no relevant chronic diseases or similar cases in the family, and his parents had no abnormalities in their karyotype.\nAt ten years and four months of age, his G band karyotype revealed a ring 17 chromosome (46 XY. r (17) (p13q25)), and he was referred to a pediatric endocrinology service to investigate his short stature. At that time, he was prepubertal; according to the World Health Organization (WHO)'s growth charts, he presented severely disproportionate short stature as his height Z-score was -5.64, i.e., below his familial growth channel (mid parental height Z-score: -0.02), slightly reduced arm span to height ratio (0.97), and eutrophy with a body mass index Z-score of -0.94.\nMoreover, he had a neuropsychomotor development delay at that time, and the neurology department followed him without any prescribed medications. He maintained the use of 5 mg amlodipine due to hypertension, which was controlled.\nAt eleven years of age, screening laboratory tests did not present changes concerning the liver and kidney function, osteometabolic profile, thyroid function, or blood cortisol levels. Also, at that age, the X-ray revealed bone age compatible with chronological age, an undefined distal phalanx on his left fifth finger, and an extra numeracy right toe between the fourth and fifth toes.\nAt eleven and fourteen years of age, regarding the somatotropic axis, insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) levels were normal. Also, at fourteen years of age, the growth hormone (GH) stimulation test with clonidine was responsive with a peak GH level of 10.20 ng/ml at 90 minutes (reference >5 ng/ml). Moreover, magnetic resonance imaging showed no alterations in the hypothalamic-pituitary region at that age.",
"gender": "Male"
},
{
"age": 14,
"case_id": "PMC10545459_03",
"case_text": "Due to his slow growth velocity, rhGH treatment was started with 0.10 UI/kg/day (0.033 mg/kg/day) as a therapeutic test at 14 years old and five months. After detecting no adverse effects, the dosage was increased to 0.15 UI/kg/day (0.045 mg/kg/day) and maintained as the usual dosage with IGF-1 and IGFBP-3 levels in their reference range. As a result of 16 months of treatment, his growth velocity increased from 3.5 cm per year to 7.7 cm per year, and his stature Z-score increased (from -5.87 to -5.23) according to the WHO's growth charts. During this period, he had no treatment complications.\nCurrently, at fifteen and nine months of age, he presents a delayed bone age compared to chronological (bone age: 13 years and chronological age: 15 years), he is pubertal with Tanner and Marshall staging G2P3. Nowadays, he maintains follow-ups with endocrinology, neurology, speech therapy, and nephrology without any complications or new symptoms, and he is still using 5 mg amlodipine, which is being reduced due to his blood pressure stabilization.",
"gender": "Male"
}
] |
PMC10545459
|
[
{
"age": 36,
"case_id": "PMC10964446_01",
"case_text": "This 36-year-old woman was diagnosed with symptomatic hereditary transthyretin-related (hATTR) amyloidosis due to a p.Val50Met TTR mutation in 2017. Her father died of hATTR amyloidosis at the age of 38 years old and two siblings also developed the disease. Her first symptoms started in 2017, at the age of 30, with a progressive lower limb small fiber neuropathy and mild autonomic symptoms (orthostatic hypotension, dysuria, and constipation). She also complained of occasional palpitations, but extensive cardiac workup, including cardiac MRI, was within normal range. RNA interference treatment with patisiran, 300 microg/kg IV every 3 weeks, was introduced at the end of 2019. On treatment, neurological symptoms remained stable, as evidenced by functional and severity scores, electrochemical skin conductance (ESC), and nerve conduction studies (NCS). To prevent deficiency related to the drug's mode of action, vitamin A substitution with 4000 IU three times a week was introduced at patisiran onset.\nIn December 2022, the patient informed us of an unplanned pregnancy (she already had three healthy children). Despite information on the uncertainties on the risks for the pregnancy due to patisiran treatment, low levels of prealbumin and vitamin A, the patient and her husband decided to continue with the pregnancy. She thus received the last dose of patisiran during the third week of amenorrhea (last dose given before the patient informed us of the pregnancy), and treatment was then discontinued. A close follow-up with a maternofetal medicine specialist was planned, including monthly dosage of serum vitamin A and prealbumin, and fetal ultrasound follow-up at 13, 17, 22, 31, and 34 weeks of gestation. Vitamin A substitution was increased at 4000 IU per day at the beginning of pregnancy given the uncertainty on available circulating vitamin A (low levels of serum vitamin A) (Table 1). Substitution was discontinued at 3 months of gestation, when vitamin A levels were within normal ranges. There was a progressive increase in prealbumin (TTR) levels over months (Table 1). The pregnancy was harmonious with a good fetal growth. No fetal malformations were detected. After a spontaneous labor, the patient delivered a healthy male infant at 40 weeks of gestation with an APGAR score at 9/9/9, birth weight 3540 g, length 49 cm, and a normal cranial perimeter at 34 cm. His clinical exam at day 2 was normal, including his neurological exam. Delivery was complicated with a postpartum hemorrhage of 1400 mL, due to uterine atony, treated with sulprostone then a Bakri balloon and tranexamic acid perfusions. A postpartum anemia at 84 g/L was treated with iron infusion. There was no sign of minor or major congenital abnormalities. The patient decided to breastfeed her baby until resuming of patisiran. Follow-up of the child's psychomotor development was then taken over by the primary care pediatrician, with check-ups scheduled in accordance with the recommendations of the Swiss Society of Pediatrics (i.e. check-ups at 1, 2, 4, 6, and 9 months, then at 1, 1.5, 2, 3, 4, 6, 10, and 14 years).\nDuring pregnancy, the patient complained of a slight accentuation of a preexisting lower limbs loss of sensitivity and a slight increase in the frequency of orthostatic dizziness, without any syncope. Constipation and dysuria remained unchanged. At last neurological follow-up performed 1 month after delivery, clinical examination demonstrated pain hypoesthesia in both fingertips and feet, with no other abnormalities. Functional and severity scores were globally stable compared with the last follow-up 9 months before. Screening of orthostatic hypotension with Schellong test was negative. ESC measured with Sudoscan (Impeto Medical, Paris, France) showed normal skin conductance in hands and feet, with similar values compared to the previous follow-up. NCS showed a slight reduction in motor and sensory sum scores compared to the last follow-up. Functional and severity scores, ESC, and NCS parameters from the pre- and post-pregnancy follow-ups are displayed in Table 2. Clinical and NCS scores are further described in the Appendix. Patisiran infusions were resumed 3 months after delivery.",
"gender": "Female"
}
] |
PMC10964446
|
[
{
"age": 30,
"case_id": "PMC11186467_01",
"case_text": "We now turn to analyze specific dietary behaviors relevant to sustainability and health on campus. We first analyze vegetarian meal purchases since the consumption and production of meat have a negative impact on the environment. Considering the frequency at which vegetarian meals are purchased out of all purchased meals, we find that, on average, across individuals, 5.3% of purchased meals are vegetarian. Vegetarian meals are the most popular among Ph.D. students (11.2%), followed by undergraduate and master students (8.3%), staff (5.9%), and other statuses (e.g., interns and visitors; 2.4%). Vegetarian meals are the most popular among 21-30-year-olds vs. other age groups (16- 20-year-olds and over 30-year-old) and among women vs. men (8.5% vs. 7.2%). We also note that the proportion of vegetarian meals is monotonically increasing over time, rising from less than 3.98% in 2012 to close to 7.96% in 2018. This rise is likely due to the rise in awareness regarding the effect of meat production and consumption on the environment and health, but also due to the university adapting its offering to cater to these trends. The complete distribution is presented in the Supplementary material.\nWe next analyze purchases of four types of products that could potentially imply harmful effects on health, albeit to a varying extent depending on the number of daily servings and the specific context (including specific nutritional values, ingredients, and ways of preparation, and added sugar content). We focus on (1) beer, (2) energy drinks, (3) coffee, and (4) vending machine items. We measure the fraction of transactions including such products, out of all purchased products, across subpopulations of status, gender, and age.",
"gender": "Unknown"
},
{
"age": 30,
"case_id": "PMC11186467_02",
"case_text": "First, regarding beers, we find that, on average, across individuals, 2.9% of transactions contain a beer. Beer purchases are the most prevalent among \"other\" statuses, students, Ph.D. students, 21-to-30-year-olds, and men (3.7% men vs. 1.9% women). Monitoring beer purchases is important since consumption of alcoholic beverages in excessive amounts is not recommended. Second, on average, across individuals, 0.15% of transactions contain an energy drink. Energy drinks are the most prevalent among students and Ph.D. students, 26-to-30-year-olds, and men (0.1% men vs. 0.041% women). Monitoring energy drinks is pressing since excessive consumption of caffeinated energy drinks have been reported in association with adverse health effects. Third, monitoring coffee purchases, on average, across individuals, we find that 15.4% of transactions contain a coffee. Coffee is the most prevalent among women, staff members, and older subpopulations (31-year-olds and older). We note that the question of the effects of drinking coffee on health is nuanced and multifaceted. Lastly, monitoring vending machine purchases, on average, across individuals, we find that 6.2% of transactions contain a vending machine item. Vending machine items are the most prevalent among students and 21 to 25-year-olds. Food products available in vending machines often have a high amount of sugar, and vending machines tend to be nutritionally poor, highlighting the importance of minitoring such purchases. The complete distribution is presented in the Supplementary material.\nWe observe significant differences between subpopulations. Overall, we find that purchases reflecting potentially harmful dietary behaviors are relatively prevalent, especially vending machine purchases (overall, 6.2% or 1 in 16 transactions a person makes contains a vending machine item). Students, Ph.D. students, younger subpopulations, and men are the most susceptible to purchasing potentially harmful items, while vegetarian meals are most popular among Ph.D. students, people between 21 and 30 years of age, and women. These insights can help stakeholders design targeted interventions and campaigns. For instance, campaigns aiming to promote purchases of healthier alternatives might be located and phrased such that they are geared toward students and younger subpopulations who are the most susceptible to purchasing potentially harmful items. Communicating attractiveness and health of food options through tailored advertisements, visual cues, and plate graphics might be effective too, as can sustainability challenges. Similarly, interventions providing discounts on healthy food items outside of regular opening hours could be effective in reducing purchases of potentially unhealthy items. Finally, more research is needed to systematically identify social gatherings and events on campus that increase the risk of repeated unhealthy behaviors, and design interventions to address them.\nFinally, we aim to understand how campus operations determine purchasing behaviors. First, to understand how purchasing behavior changes during the exam session, we compare the differences in purchases between semesters and exam sessions. Monitoring weeks of the entire studied period, in Figure 5, we find that, during the exam weeks, compared to semester weeks, there is a significant increase in the relative frequency of purchases of energy drinks (+22.4%), coffee (+9.9%), and a decrease in the relative purchasing frequency of beer (-20.0%), pizza (-15.3%), drinks (-6.0%), and fruit (-5.0%). For instance, the fraction of purchased energy drinks, which has the greatest change between exam weeks and semester weeks, peaks during the fall semester exams (peak occurs on the last week of the year when 1% or 1 in 100 purchased items is an energy drink). As expected, these effects are stronger among students than among staff members, who are less affected by the academic calendar (Supplementary Figures S5, S6).\nDuring the fall and spring semesters, each class begins after the first quarter of each hour and ends at the end of the hour, with a break of 15 minutes between two classes. Investigating the impact of the academic calendar on purchasing behaviors within an hour (Figure 6), we observe different behavior depending on the individual's status and whether the transactions are made during the semesters or not. During the spring and fall semesters, students' transactions peek at the 8th minute in the hour, during the 15-minute break, and consequently drop (Figure 6, top). Transactions executed by the staff members do not exhibit such a pattern. Ph.D. students are in between staff and students. These differences between staff members and students disappear during the exam sessions and breaks when there are no 15-min breaks (Figure 6, bottom), implying that hourly patterns are indeed linked with the academic calendar since students tend to take advantage of the 15-min break to buy drink or food.\nTo summarize, we find that academic schedules determine food consumption on campus, both at the yearly level (lecture season vs. exam season) and the daily level (lectures vs. breaks). On the yearly level, exam sessions are associated with surges in the consumption of both coffee and energy drinks (Figure 5), while on a daily level, the 15-min break between lectures drives food consumption, particularly among students and during lecture weeks. Exams are associated with increases in purchases of potentially unhealthy products, likely due to stress and performance desires. These insights highlight the need for policy-makers to do more to promote student well-being as stress and anxiety levels are elevated among university and college students. Modifying the food offer and making exam sessions a better experience for students by encouraging socialization might be promising directions, as socialization might be reduced during exams since beer and pizza purchases decrease, cf. Figure 5. Such community-setting food environment interventions targeting young adults are typically associated with improvements in diets and nutrition outcomes. Similarly, insights regarding the 15-min break imply that purchase line congestion might occur. Interventions mitigating the surge in purchases and modifying the offering might be effective, for instance, by opening additional dedicated checkouts with modified healthy snack offerings.",
"gender": "Unknown"
}
] |
PMC11186467
|
[
{
"age": 43,
"case_id": "PMC11300082_01",
"case_text": "In 2020, a 43-year-old man presented to our clinic with a complex medical history. He had been diagnosed with Crohn's disease and was receiving appropriate treatment for it. However, his clinical presentation had evolved over the previous two years, marked by intermittent febrile episodes and persistent generalized fatigue. History goes back to April 2019, when the patient received surgical treatment for a perianal abscess. After 8 months, there was no closure due to the patient not adhering to the treatment. Colonoscopy was then opted for by his surgeon, whereby Crohn's disease was first diagnosed, and the patient was given Adalimumab. A computer tomography (CT) scan of the chest done in July 2020 for fever, sweating, weight loss, and cough revealed pulmonary infiltrates with a tree-in-bud pattern in the right lower lobe, alongside a 6 mm posterior segment pleural base nodule and multiple mediastinal lymph nodes, 19 mm being the biggest measure with no pleural effusion. This was presumed to be tuberculosis based on the history and imaging. Thus, the patient underwent 6 months of treatment. Following that, the patient presented to the emergency room with severe bloody diarrhea on May 2021, where he was found to be HIV positive on admission. The patient was started on antiretroviral therapy (efavirez, emricitabine, and tenofovir). However, he was still having episodes of high-grade fever despite wide spectrum coverage, and the patient was discharged against medical advice.\nOn October, 2021, the patient presented again complaining of progressive diffuse abdominal pain and painless generalized lymphadenopathy. Upon initial evaluation, laboratory tests revealed a constellation of abnormalities, including pancytopenia, altered coagulation parameters, hypoalbuminemia, and elevated acute phase reactants (Table 1).\nBrain MRI showed a round lesion with a size of 1.2 x 1.1 cm which was suspected to be secondary to infection. Workup for toxoplasmosis, CMV, and HHV-8 was performed, including various cultures to detect Mycobacterium species. Serologic testing confirmed the presence of HHV-8, and polymerase chain reaction tests from the cerebrospinal fluid for toxoplasmosis and CMV both returned positive results. Consequently, the patient was prescribed a treatment regimen consisting of pyrimethamine 50 mg/day orally, sulfadiazine 1-1.5 g/day orally, and folinic acid 10 mg/day orally until immune reconstitution is achieved. Additionally, the patient received ganciclovir 300 mg IV every 12 hours for 2 weeks.\nCT scans of the chest, abdomen, and pelvis further unveiled hepatosplenomegaly and an increase in mediastinal and axillary lymphadenopathy with bilateral retroperitoneal and iliac lymphadenopathy. An excisional biopsy of the left axillary lymph node was subsequently performed, revealing findings consistent with the plasma cell type of MCD and bone marrow aspirate showed plasmocytes.\nAll these findings were present while the patient was compliant with antiretroviral therapy with a viral load of 183 copies/ml. The patient was kept on antiretroviral therapy and started chemotherapy with doxorubicin and rituximab. Doxorubicin was administered at a dose of 40 mg/m2 IV, and rituximab at a dose of 375 mg/m2 IV. The chemotherapy regimen consisted of eight cycles, with each cycle repeated every three weeks. With the presence of pancytopenia and a CD4 count of 33, the patient responded well to treatment and recovered. After the chemotherapy sessions, follow-up of the patient showed remarkable lab improvement and CD4 count back to the normal range (Table 2).",
"gender": "Male"
}
] |
PMC11300082
|
[
{
"age": 18,
"case_id": "PMC10858775_01",
"case_text": "An 18-year-old male presented with the complaint of a bony, hard swelling over the forehead for eight years. As per the patient's description, the swelling was \"initially the size of a pea,\" but it gradually increased to \"the size of a tennis ball.\" There was no history of rupture or discharge from it. This was associated with mild headaches without any aggravating or relieving factors. There was no history of seizure, vomiting, trauma, or blurring of vision. On examination, a bony, hard, nonpulsatile, immobile, non-tender swelling, 8 x 10 x 15 cm in size, was present over the midline, bifrontal region [Figure 1]. The rest of his neurological examination was unremarkable.\nComputed tomography (CT) of the head showed an expansile osseous lesion involving the bifrontal bones with linear trabecular striations [Figure 2]. Magnetic resonance imaging (MRI) of the brain revealed a swelling in the frontal region that was seen involving both the inner and outer table of the frontal bone, causing the widening of the diploic spaces [Figure 3]. No significant enhancement was seen on postcontrast images.\nThe tumor was resected by bifrontal craniotomy [Figure 4a]. Burr holes were made circumferentially around the lesion, avoiding the midline and leaving some margin. Gradually, the dura was separated circumferentially, avoiding any sinus injury. The tumor mass was enveloped in the bone (both inner and outer tables). Following this, cranioplasty was done using titanium mesh (Johnson and Johnson, India), fixed with miniplate and screw [Figure 4b].\nThe postoperative period was uneventful, and the patient was discharged on the 7th postoperative day. Histopathology revealed a fibro-osseous lesion with irregular curvilinear woven bone without conspicuous osteoblastic rimming, intervening fibrous tissue composed of bland fibroblastic spindle cells [Figure 5]. It was suggestive of benign fibro-osseous lesion favoring FD. He is doing well at a 12-month follow-up that shows an excellent cosmetic result [Figure 6] without any recurrence of symptoms.",
"gender": "Male"
}
] |
PMC10858775
|
[
{
"age": 70,
"case_id": "PMC11210194_01",
"case_text": "In this study, the basic sociodemographic characteristics of older adults investigated can be seen in Table 2. Of the 4,815 older adults surveyed, there were 2,320 males (48.18%) and 2,495 females (51.82%). The number of women was slightly higher than that of men. In terms of age, older adults aged between 60 and 70 years old are 2,703 (56.14%), aged between 71 and 80 years old are 1703 (35.37%), aged between 81 and 90 years old are 387 (8.04%), aged more than 91 years old are the lowest, only 22 (0.45%). It means that most of the respondents of this survey are young older adults. Regarding educational level, 1,929 (40.06%) had education up to elementary school, 1,188 (24.67%) had education up to junior high school, 984 (20.44%) had high school or technical secondary education, 315 (6.54%) had education up to junior college, and 399 (8.29%) had a bachelor's degree or above. Regarding the number of children, 188 (3.90%) of the surveyed older adults have no children, 1,023 (21.25%) have one child, 1,874 (38.92%) have two children, and 1,730 (35.93%) have three or more children.\nRegarding the marital status of the surveyed older adults, 3,803 (78.98%) are married, 956 (19.85%) are widowed, 40 (0.84%) are divorced, and only 16 (0.33%) are unmarried. Additionally, 194 (4.03%) were state functionaries before retirement, 978 (20.31%) were public institution personnel, 1,056 (21.93%) were enterprise staff, and 2,587 (53.73%) were engaged in other industries before retirement. In this survey, 2,504 (52.01%) older adults have a monthly income of less than 2000 yuan, 1,575 (32.71%) have a monthly income ranging from 2001 to 4,000 yuan, 553 (11.48%) have a monthly income ranging from 4,001 to 6,000 yuan, and only 183 older adults have a monthly income larger than 6,000 yuan, accounting for 3.80%. Regarding living arrangements, 934 (19.40%) lived alone, while 3,881 (80.60%) lived with others.\nDescribe the health status of older adults from three characteristics: self-rated health, chronic diseases, and self-care ability. Two thousand and one hundred seventy three older adults perceived their health as fair, accounting for 45.12%. Additionally, 1,537 (31.92%) older adults perceived their health as good, while 1,050 (21.81%) perceived it as poor, and 55 (1.15%) considered their health very bad. 2,504 (52.00%) had chronic diseases, while 2,311 (48.00%) did not. Regarding self-care ability, 4,345 older adults had the ability to take care of themselves, accounting for 90.24%. Additionally, 453 (9.41%) needed help from others in daily life, and 17 (0.35%) could not take care of themselves at all.\nMedical security status is described as endowment insurance and medical insurance. Two thousand and four hundred seventy seven older adults have basic endowment insurance for urban and rural residents, accounting for 50.40%. Additionally, 1,758 (36.51%) have basic endowment insurance for urban workers, 122 (2.53%) have enterprise annuity endowment insurance, and only 39 (0.80%) have commercial endowment insurance. Moreover, 469 (9.76%) older adults do not have any endowment insurance. Concerning medical insurance, 2,875 older adults have basic medical insurance for urban and rural residents, accounting for 59.70%. Furthermore, 1,819 (37.77%) have basic medical insurance for urban workers, 55 (1.15%) have commercial medical insurance, and 66 individuals (1.38%) do not have any medical insurance.\nSimilarly, Table 2 also shows the knowledge and demand of older adults with different sociodemographic characteristics for the smart senior care. Among the surveyed older adults, 2,969 have never heard of the service model, accounting for 61.65%, 923 (19.17%) older adults have heard but not understood the model, 492 have gained some understanding, accounting for 10.22% and 398 (8.27%) have known it well. However, only 33 (0.69%) older adults reported a comprehensive understanding of this model. Among the surveyed older adults, 1,625 (33.75%) expressed a demand for smart senior care services, while 3,190 (66.25%) indicated no demand. Further investigation of what services are expected by older adults with smart senior care demands. As shown in Figure 3, the older adults in Lanzhou have the highest demand for medical care (79.45%), followed by spiritual comfort (53.28%), leisure and entertainment (49.14%), emergency ambulance (49.02%), and life care (24.60%).\nAfter the statistical analysis, different ages, education levels, marital status, occupation before retirement, monthly income, number of children, self-rated health, chronic disease, type of endowment insurance, type of medical insurance, and knowledge of smart senior care showed statistical significance (p < 0.05) in relation to the needs of older adults for smart senior care in Lanzhou. However, gender, living arrangement, and self-care ability did not exhibit statistical significance (p > 0.05). Refer to Table 2 for detailed descriptions.\nVariables with statistical significance in the single-factor analysis were treated as independent variables (Xi), including age, education level, marital status, occupation before retirement, monthly income, number of children, self-rated health, chronic disease, type of endowment insurance, type of medical insurance, knowledge of the smart senior care have statistical significance. The demand of older adults for smart senior care services was designated as the dependent variable Y (Y = 1 indicating a demand; Y = 0 indicating no demand). Subsequently, a binomial logistic regression analysis was conducted. Variable definition for related factors were presented in Table 3.",
"gender": "Female"
},
{
"age": 71,
"case_id": "PMC11210194_02",
"case_text": "Based on the regression results, older adults in Lanzhou exhibiting certain characteristics are more likely to demand smart senior care. These characteristics include being over 71 years old, widowed, having three children or fewer, having endowment insurance as an urban worker or enterprise annuity, and possessing some understanding of the smart senior care model. Conversely, older adults in Lanzhou with the following characteristics are less likely to demand smart senior care: those with a high school or technical secondary school education or below, and those with a monthly income of 2,000 yuan or below. The regression result is visually presented in Figure 4.",
"gender": "Unknown"
}
] |
PMC11210194
|
[
{
"age": 23,
"case_id": "PMC10591249_01",
"case_text": "The patient was a 23 day old Saudi girl who was born to a 41 years old lady at 35 weeks of gestation via cesarean sections due to fetal distress. Maternal history revealed the mother was gravida 5 para 6 with no known chronic medical illness. She started her follow up in the private sector in which first ultrasound showed a single viable fetus but unfortunately an anomaly scan was not done. She was taking supplement medication during pregnancy once she tested positive on a pregnancy test as used to take folic acid, iron and calcium with no good compliance on taking them at times. There was no history of gestational diabetes or pregnancy induced hypertension as she was screened during pregnancy follow-up. No history of radiation exposure. Her previous 4 pregnancy concluded with first normal vigainal delivery and at 2nd was cesarean section due to abruption placenta and 3rd was cesarean section of twins delivery and the fourth was cesarean section due to previous cesarean section. However, all children were full term and in good condition with no chronic medical illness. In regards to family history, the parents are not consanguineous. There is one maternal aunt with trisomy 21.\nAt the delivery room, the APGAR score was 5 and 7 at 1 and 5 minutes respectively. She was admitted to NICU due to respiratory distress which started on CPAP initially then required intubation on the 4th day of life. On the 5th day of life she was transferred to our hospital due to limited other service and financial issues. Upon admission to our hospital, her physical examination revealed a newborn girl under radiant-warmer and intubated with connection to mechanical ventilations. Her vital signs were within acceptable values and she was pinkish skin color and not pale, jaundiced, or cyanosed. Her growth parameters based on age and sex were in the 10th percentile for weight, length, and head circumference. She had dysmorphic facial features including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low seat ears. She had area of loss of scalp skin and skull bone with seen brain tissue and sagittal sinus were exposed that was measure 6*5 cm in size as shown in Figure 3. Additionally, she had a clenched fist and overlapping fingers and rocker bottom feet. Lung auscultation revealed vesicular breathing with equal air entry bilaterally and no added sounds. Precordium auscultation revealed medium pitched high grade continuous murmur heard best at the pulmonary position with a harsh machinelike quality that often radiated to the left clavicle. She had a soft and lax abdomen without tenderness or hepatosplenomegaly.\nLaboratory investigations at the age of 5 days included complete blood count (CBC) which revealed a hemoglobin of 12.1 g/dl, haematocrit of 35.8 %, MCV of 113 fL, MCH of 38.2 pg, MCHC of 33.9 g/dl, RDW of 16.9 %, platelet of 121 k/ul, WBC of 23.6 k/ul in which neutrophils were 74 % lymphocyte of 11% and monocyte of 15 %. Patient blood group is O positive and the direct coombs test (DCT) was negative. Liver function test showed total bilirubin of 13.7 mg/dl, direct bilirubin of 1.1 mg/dl, SGOT of 75 U/L, SGPT of 14 U/L, lactate dehydrogenase (LDH) of 889 U/L, GGTP of 118 U/L, total protein 4.1 g/dl and albumin of 2.7 g/dl. Renal function test showed a BUN of 13 mg/d, creatinine of 0.82 mg/dl, sodium of 138 mEq/L, potassium of 3.5 mEq/L, CO2 of 18 mEq/L, Cl 103mEq/L, anion gap 17. C-reactive protein level was less than 0.1 mg/dL. Virology screens including Toxoplasma IgG and IgM was negative, Rubella IgG was positive and IgM was negative, Cytomegalovirus (CMV) Antibody IgG was positive and IgM was negative, Herpes Simplex Virus IgG was positive and IgM was negative, Hepatitis B surface antigen and antibody were non reactive and core antibody was negative. Blood culture did not show bacterial growth. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 in all 20 metaphase cells counts. Radiology investigations include head magnetic resonance imaging (MRI) revealed absence of scalp and calvarium at the parietal region with no herniation is visualized as shown in Figure 4.\nThe patient was managed with moist gauze dressing, topical antibiotics ointment, and povidone-iodine. A multidisciplinary team meeting was held that involved neurosurgeon, neonatologist, and pediatric genetics consultants who agreed on do not resuscitate (DNR) with no further surgical intervention as survival rate of trisomy 13 is poor along with associated skull bone defect.",
"gender": "Female"
}
] |
PMC10591249
|
[
{
"age": 76,
"case_id": "PMC10987736_01",
"case_text": "The patient is a 76-year-old African-American male with a past medical history of hypertension, hyperlipidemia, and prostate cancer that was treated with radiation therapy in 2017. He presents with a self-identified left axillary mass in June 2020. He denies constitutional symptoms of fever, fatigue and weight loss. He is otherwise asymptomatic. Physical exam demonstrates a 1.5 cm x 2 cm mobile, non-tender inferior axillary mass. Core needle biopsy in August 2020 demonstrated an adenocarcinoma which was weakly positive for NKX3.1 (NK3 homeobox 1), a prostate adenocarcinoma marker with nuclear staining, though indeterminate due to weak expression. It was negative for PSAP (prostatic acid phosphatase), TTF1 (thyroid transcription factor 1), CK7 (cytokeratin 7), CDX2 (caudal-related homeobox gene 2), p63 (tumor protein 63) and CK20 (cytokeratin 20). Due to weak positivity of NKX3.1 and history of prostatic adenocarcinoma, metastatic prostatic carcinoma was favored. In order to have a more definitive diagnosis, this case was sent out for a second opinion at a neighboring academic institution which supported the diagnosis of a poorly differentiated adenocarcinoma with non-specific immunophenotyping. Again, PSA expression was found to be negative and NKX3.1 was reported to be patchy.\nDue to the uncertainty regarding oncological recurrence, the decision was made to proceed with excisional biopsy. Our patient underwent excision in September 2020. Histologic examination of the entire specimen revealed a large multilobated tumor involving the dermis and superficial subcutis. The tumor cells are large and epithelioid with abundant eosinophilic cytoplasm, forming solid sheets with focal glandular architecture, but no secretion (Figure 1). With a large panel of immunostains, the tumor is weakly positive for GATA3 (GATA-binding protein 3), NKX3.1, ER (estrogen receptor), BRST (same as GCDFP-15) and CK20, patchy staining, and is negative for all other markers that were studied: PSA (prostate specific antigen), PSMA (prostate specific membrane antigen), CK7 and p63. This case was reviewed at four major academic institutions. Though based on histopathology there was no universal consensus among pathologists at these institutions, most of them agreed with the diagnosis of apocrine sweat gland carcinoma. This was based on histomorphology, immunophenotypic profile, anatomic location and clinical presentation. Unfortunately a margin was positive in the initial excision, so the patient underwent an additional marginectomy in November 2020.\nBecause margins were negative following the marginectomy in November, no additional intervention was made and the patient was instructed to conduct routine surveillance for local recurrence.\nTwo years later, the patient returned in October 2022 with a new left axillary lump. He underwent an ultrasound-guided core biopsy that demonstrated an adenocarcinoma with similar morphology (Figure 2) and immunoprofile as those of the apocrine sweat gland carcinoma in the original axillary mass in 2020.\nOur patient underwent a PET scan in December 2022 which demonstrated a single hypermetabolic nodule in the axilla measuring 2.5 cm x 1.5 cm. He was taken to the operating room for a left axillary lymph node dissection later that month. Pathology demonstrated metastatic carcinoma in one of twelve lymph nodes. The carcinoma has similar morphology and immunoprofile to those of apocrine sweat gland carcinoma. He was referred to the radiation oncologist for adjuvant radiation therapy. The plan was continued surveillance for local recurrence following definitive therapy. To this date the patient has not had any signs or symptoms of recurrence.",
"gender": "Male"
}
] |
PMC10987736
|
[
{
"age": 54,
"case_id": "PMC10951713_01",
"case_text": "Intradural disc herniation (IDDH) is a rare condition characterized by the protrusion of the nucleus pulposus of an intervertebral disc into the dural sac. IDDH accounts for only 0.3% of all cases of disc herniations, with a majority occurring in the lumbar spine (92%). Intradural lumbar disc herniation commonly presents with a combination of low back pain, radiculopathy, and paresis. While traditional radiculopathy is associated with lumbar disc herniations in general, cauda equina syndrome occurs more frequently in cases of IDDH. Cauda equina syndrome affects around 0.5%-1% of all lumbar disc herniation cases overall but has a higher incidence rate of 30%-60% specifically in patients with IDDH(2). This entity is typically identified at the perioperative or postoperative period, we report a case study of a 54-year-old male patient who presented with complete cauda equina syndrome and was subsequently diagnosed with intra-dural disc herniation.",
"gender": "Male"
}
] |
PMC10951713
|
[
{
"age": 45,
"case_id": "PMC10758896_01",
"case_text": "A 45-year-old male prisoner presented with necrosis on the penile shaft secondary to using a non-metallic penile constriction object. The patient reported a 5-day history of progressive penile pain, edema, and skin injury but no urinary symptoms. There was no notable medical background or history reported.\nUpon penile examination, the patient showed signs of malodor, purulent exudate, infected necrotic skin, and missing dermis on the dorsal and ventral aspects of the penile shaft (Fig. 1). The distal penis was edematous and tender. The patient's vital signs were stable, and laboratory investigations were normal, with no fever present.\nImmediate treatment involved prescribing a combination of cephalosporin, gentamicin, and metronidazole, along with potent analgesia. Prompt operative management was then undertaken, which included urgent EUA, rigid cystoscopy, SPC insertion, and complete penile skin degloving. The procedure was performed under general anesthesia in the Lloyd Davis position, and a 16 Fr SPC was inserted under cystoscopy guidance. Complete skin degloving from the glans edge to the penile base and midline anterior scrotal skin was undertaken, along with circumcision. Buck's fascia was found to be intact (Fig. 2). Following the procedure, a Jelonet dressing, blue gauze, and crepe bandage were applied.\nNo early postoperative complications were reported, and the patient's laboratory investigations were normal. The patient remained afebrile and had stable vital signs. The patient was continued on the same antibiotics regimen.\nOn the third- and seventh-day post-penile degloving, the patient had EUA, which revealed no necrotic tissue or infection. The penile tissue was healthy, and the wound was granulating. The penile wound was irrigated with peroxide, iodine, and saline and redressed. The microbiology team advised starting the patient on meropenem and clindamycin based on the penile skin microbiology results which showed the presence of Staphylococcus aureus and Beta-haemolytic streptococcus.\nOn the eleventh day following penile degloving, a FTSG was performed from the groin area in a joint procedure involving the urology and plastic surgery teams. The wounds on the penile shaft and scrotum were found to be granulating and healthy. The wound edges and base were refreshed, and minimal excision of irregular benign subcutaneous tissue was performed. Hemostasis was achieved, and the wound was washed out with chlorhexidine and saline.\nScrotal skin was mobilized with a sub-dartos layer to enable scrotal wound closure in layers. A urethral catheter was inserted to protect the urethra. The base of the penis was mobilized a few centimeters to enable penile fixation sutures at the base. The urethral and dorsal neurovascular bundle was identified and protected. The area of penile skin deficit was measured. Elliptical incisions were made in the bilateral groin creases to FTSG, which was then defatted. The FTSG was spirally inserted into the penile shaft, and Tisseel fibrin sealant (4 cc) was used. An Adaptic dressing and sponge gauze were applied and secured to the abdominal skin by prolene sutures. Groin closure was completed using staples.\nNo early postoperative complications were reported, and the patient's vital signs and laboratory investigations were normal. The penile dressing was kept dry, and the penile glans were healthy with preserved sensation. The patient's hips were kept flexed to reduce tension in his groin wounds. Meropenem and clindamycin were continued.\nAfter a 20-day hospital admission, the patient was discharged back to the prison without antibiotics. The patient was clinically and vitally stable with clean wounds, which were healing (Fig. 3). His laboratory investigations were normal, and a leg bag was attached to the SPC. The wound management plan was given to the prison medical team.",
"gender": "Male"
}
] |
PMC10758896
|
[
{
"age": null,
"case_id": "PMC10831137_01",
"case_text": "The patient is a newborn male infant delivered via cesarean section at 33 weeks of gestational age with a low birth weight of 2.4 kg. He was delivered at our hospital with an Apgar score of 7/10 at one and five minutes, respectively. The patient was admitted to the NICU due to mild respiratory distress in the form of tachypnea, nasal flaring, and intercostal and subcostal retractions; there was no grunting or cyanosis. Apart from this, he was admitted to exclude spinal dysraphism and the evaluation and management of the cutaneous congenital anomaly arising from the back in the lumbosacral region. He had no other congenital defects. He also had an unremarkable antenatal history, and there was no family history of any developmental or congenital anomalies.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10831137_02",
"case_text": "On examination, he was active pink in color and vitally stable, with no dysmorphic features, normal limbs, and normal external male genital. The lumbosacral examination found a 3 cm-long cutaneous soft tissue appendage covered by normal skin arising and hanging down from the mid-sacral region (Figure 1). The mass was soft, firm, non-tender, and not translucent at the left gluteal cleft with a circular-shaped end.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10831137_03",
"case_text": "A detailed physical examination revealed no other associated anomalies. The cutaneous soft tissue appendage was a 3 cm-long, cylindrical, pink, soft, and mobile mass arising from the mid-sacral region. It was non-tender and did not bleed on palpation. There was no spontaneous movement of the appendage. There was no evidence of spinal dysraphism, tethered cord syndrome, or spina bifida. The patient's lab investigations (CBC, renal function test (RFT), liver function test (LFT)) were within the normal range. He was managed with nasal oxygen on the first day and was weaned off gradually; other than that, the patient was managed with routine NICU care.\nAn MRI of the spine revealed an approximately 3 cm (about 1.18 in) long pedunculated appendage with fat intensity arising and hanging down from the mid-sacral region. There was no definite communication with the thecal sac, no obvious spinal dysraphism, and the conus was located at the level of the first lumbar vertebra, which was suggestive of a true human tail. In addition, the cord and theca displayed a normal course and signal pattern, and the scanned vertebrae displayed a normal signal as well as a cortical outline (Figures 2-3).",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10831137_04",
"case_text": "The patient also had an MRI of the brain, which showed multiple bilateral foci in the periventricular white matter that elicited high signal intensity in flair and showed restricted diffusion. These findings are suggestive of periventricular leukomalacia. Other findings were unremarkable and within the normal range for his age.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10831137_05",
"case_text": "The patient underwent excision of the tail; microscopic examination showed skin with adnexal structures including hair follicles, sweat, and sebaceous glands. The underlying tissue revealed dense connective tissue with congested blood vessels, islands of adipose tissue, nerve bundles, and some bands of smooth muscle fibers. No bones or cartilaginous tissue were found. No malignant cells were detected (Figure 4). The diagnosis was made from the pathohistological specimen which concluded that it is a skin tag consistent with a true vestigial tail.",
"gender": "Unknown"
}
] |
PMC10831137
|
[
{
"age": 81,
"case_id": "PMC11099200_01",
"case_text": "We present a case involving an 81-year-old female, who was hospitalized in September 2022 due to the gradual development of a non-tender cervical swelling on her right side over the preceding two months. There were no accompanying symptoms of weight loss, fever, or night sweats. The patient had stopped smoking tobacco while occasionally consuming alcohol. There was no evidence of an autoimmune condition or a viral infection. Notable comorbidities were hypertensive cardiopathy with moderately impaired ejection fraction and coronary arteriosclerosis. During the physical examination, a discernible, firm, and mobile tumefaction was observed in the right cervical region. The remaining physical examination was unremarkable. Sonography revealed an inhomogeneous tissue at the site of the swelling ( Figure 1A ). In the peripheral blood a significant increase of lymphocytes 5.69 x109/L was noted, while lactate dehydrogenase (LDH) levels were within the reference range ( Table 1 ). Flow cytometric peripheral blood immunophenotyping showed the expansion of a mature clonal B-cell population, with restriction of the membrane immunoglobulin light-chain kappa (76% of total B-cells, absolute count 0.8 x109/L). Immunoglobulin subtypes were within the reference range and no abnormal paraprotein was found via serum protein electrophoresis ( Table 1 ). In line with the result from flow cytometric immunophenotyping, an augmentation of the free immunoglobulin light-chain kappa was measured in the serum ( Table 1 ). A fine needle puncture of the swelling visualized a mixed lymphocytic infiltrate (data not shown).\nWe conducted an 18F-fluorodeoxy-glucose (FDG)-positron-emission tomography and computer tomography (PET-CT) scan to investigate the possibility of additional pathological lesions in the patient. The scan visualized hypermetabolism in the right submandibular gland and an adjacent lymph node (2.6 x 3.3cm, SUVmax 14.9, Figures 1B, C .\nTo gain insight into the cellular origin of the rapidly growing hypermetabolic lesions, an extirpation of the cervical lymph node and a fine-needle biopsy of the submandibular gland was performed two days after the PET-CT scan. The biopsy revealed an infiltration by medium-sized, monomorphic, and blastic CD20+ B-cells with basophilic cytoplasm accompanied by a significant number of mitotic figures ( Figures 1D, E ). The proliferation rate was very high (ki-67/MIB 95%, Figure 1F ) and tingible body macrophages were interspersed ( Figure 1G ). The B-cells displayed an immunophenotype characteristic of mature germinal-center B-cells, including high membrane IgM expression with kappa light-chain restriction. Additionally, the cells stained positive for CD79A, CD10, CD38, BCL6 and weakly positive for PAX5. BCL2, LMO2 and TdT were negative within B-cells, whereas c-MYC positivity was abundant ( Figure 1H ). B-cell infection by EBV was negative ( Table 1 ). The pattern pointed to the differential diagnosis of Burkitt lymphoma.\nIn October 2022, a bone marrow investigation revealed only 10% infiltration by CD20+ small lymphoid cells ( Figures 1I, J ). These small B-cells were low proliferative ( Figure 1K ). The flow cytometric characterization showed a CLL immunophenotype (CD19+ CD20dim CD5+ CD23+ CD200+ CD79b- FMC7- IgMdim), thus a Matutes score of 5, which allowed the diagnosis of chronic lymphocytic leukemia-type monoclonal B-cell lymphocytosis (CLL-type MBL).\nFluorescence in situ hybridization (FISH) using break-apart probes was performed, revealing a c-MYC translocation (without concomitant BCL2 or BCL6 rearrangement) in the submandibular gland but not in the SLL/CLL population. No additional translocations, such as t(11;14) or t(14;18), were detected. Thereby cytogenetically confirming the diagnosis of Burkitt lymphoma.\nGiven the Burkitt lymphoma's rapid development, a molecular analysis was conducted to investigate the clonal relationship between the Burkitt lymphoma present in the submandibular gland and the SLL/CLL present in the bone marrow. Remarkably, the malignant B-cells found in the submandibular gland and the bone marrow exhibited an identical monoclonal rearrangement of 108bp length in the framework region (FR3 region) of the immunoglobulin heavy chain (IGH) locus ( Figures 1L, M ), however an additional peak was noted in the Burkitt lymphoma sample ( Figure 1M ). To further address the question of clonal relatedness and evolution, we performed high-throughput sequencing of the FR3-region of the immunoglobulin heavy (IGH) and light chains (IGK and IGL). IGH sequencing partially confirmed the results obtained suing fragment analysis: the SLL/CLL B-cells and the Burkitt lymphoma cells shared the same top rearrangement, with a frequency of 80.1% in the SLL/CLL sample and 40.5% in the Burkitt lymphoma sample ( Figure 1N ; Table 2 , IGHV3-11). Nonetheless, the Burkitt lymphoma cells showed a second dominant rearrangement (39.5%), which was not present in the SLL/CLL cells ( Figures 1N, O ; Table 2 , IGHV4-34). The two rearrangements did not share CDR3 sequence similarity and they did not utilize the same VJ-genes ( Table 2 ). The result of the immunoglobulin light chains sequencing showed somewhat dissimilar results: the top rearrangement in the CLL/SLL sample (71.8%, IGKV1-39), was still present in the Burkitt lymphoma sample with 8.9% ( Table 2 ). There was instead another dominant rearrangement in the Burkitt lymphoma sample (79.6%, Table 2 , IGKV2-30), that was not detectable in the SLL/CLL sample. Analysis were in accordance to previously published methods.\nConsidering the histopathological, flow cytometric and radiographic findings a Burkitt lymphoma stage I was diagnosed on the background of an indolent CLL-type MBL. This finding suggested an atypical Richter transformation.\nConsidering the aggressive nature of the transformed lymphoma and the biologically younger patient, an interdisciplinary tumor board recommended an intensive treatment regimen of six cycles DA-EPOCH-R (dose adjusted etoposide prednisone vincristine cyclophosphamide doxorubicin rituximab), starting at a level -1 dose (augmented till dose 2, vincristine 50%). The treatment was well tolerated and the patient responded well clinically.\nAfter administrating six cycles of DA-EPOCH-R treatment, two re-staging PET/CT were conducted, visualizing a complete remission of the previously identified lesions. Regular flow cytometric evaluation of peripheral blood, could not visualize minimal residual disease. As of the twelve-month mark from the initiation of treatment, there are no clinical or laboratory-based signs indicating a relapse.",
"gender": "Female"
}
] |
PMC11099200
|
[
{
"age": 47,
"case_id": "PMC11246960_01",
"case_text": "The patient was a 47-year-old rural woman. She had had a history of hypertension for 7 years and usually managed her blood pressure with levamlodipine, which was effective. She did not have any previous neurological disorders such as stroke or epilepsy. Recently, while engaging in agricultural activities, she drank some untreated water from a natural source due to thirst and experienced abdominal pain and diarrhea, but she ignored it completely and did not seek any treatment for this discomfort.\nTwo days later, she experienced a sudden onset of severe headache and then collapsed and lost consciousness, accompanied by continuous seizures. Her family members immediately took her to the local hospital. Apart from a suspiciously positive Babinski sign and hyperpyrexia (39.0 C), all other physical examinations were unremarkable. Laboratory tests revealed elevated neutrophils (10.8*109/L) and procalcitonin (1.96 ng/ml). No obvious abnormalities were found in cerebrospinal fluid (CSF) examinations or brain magnetic resonance imaging (MRI). Due to the presence of epilepsy, fever, and elevated inflammatory markers, the possibility of having an early-stage central nervous system infection could not be excluded. Considering the effective penetration of ceftriaxone through the blood-brain barrier and the inability to completely rule out viral infections, she was given ceftriaxone 3g/q8h and acyclovir 0.5g/q8h for anti-infective treatment. In addition, benzodiazepine (diazepam) was administered to control epilepsy, but no improvement was observed. She was transferred to the intensive care unit (ICU) of Jiangxi Provincial People's Hospital due to status epilepticus (SE).\nAfter admission to the ICU, we immediately gave her valproate to control the SE, but the electroencephalograph (EEG) still showed prolonged electrographic seizure activity. She was diagnosed with refractory status epilepticus (RSE) because the first- and second-line anti-epileptic medications failed. Therefore, we administered propofol to control her RSE based on the recommendation of consensus protocol (Figure 1). Lumbar puncture for routine examination and culture of CSF was performed. We also sent a CSF sample for metagenomic next-generation sequencing (mNGS). Qualified libraries were sequenced using Darui's DA8600 platform. Its classification reference databases contained 14,330 bacteria, 814 fungi, 15,720 viral taxa, and 169 parasites. As there was no clear identification of the pathogen, the original antimicrobial treatment remained unchanged.\nOn day 2, we performed an MRI, which showed abnormal enhancement in the dura mater and pia mater (Figure 2). No definite changes were found in the brain parenchyma. The routine CSF test indicated a positive Pandy test with a total white blood cell count of 0.06*109/L and a protein level of 1,336 mg/L. On day 3, as she continued to exhibit recurrent epileptic activity with brief bursts of generalized spikes or generalized periodic discharges in the EEG after weaning off propofol, we considered her SRSE. Therefore, we added carbamazepine as a third anti-epileptic medication.\nOn day 4, her clinical epilepsy resolved, but there was still discontinuous epileptic electrical activity in the EEG. We introduced phenobarbital and stopped diazepam (Figure 1). Metagenomic next-generation sequencing (mNGS) indicated 106 mapping sequence reads of Aeromonas caviae with a 68% coverage rate, confirming an Aeromonas caviae infection (Figure 3). On day 5, her epileptic electrical activity completely stopped in the EEG. After discontinuing propofol, we observed that her consciousness began to improve, although her temperature and inflammatory markers remained abnormal. The CSF culture tested positive for Aeromonas caviae, leading to a diagnosis of Aeromonas caviae meningitis. Due to the rarity of this case, we reviewed previous literature and case reports and found reports indicating the resistance of Aeromonas caviae to ceftriaxone. At the same time, a drug susceptibility test showed that Aeromonas caviae was highly susceptible to meropenem and resistant to ceftriaxone. Therefore, we administered meropenem 2g/q8 h to control the infection.\nOn day 6, her temperature and inflammatory marker levels began to decrease. On day 21, she was discharged. Figure 4 depicts her care timeline during the hospital stay. At 1-month follow-up after discharge, she exhibited no sequelae, and her brain MRI showed no significant abnormalities.",
"gender": "Female"
}
] |
PMC11246960
|
[
{
"age": 23,
"case_id": "PMC10757332_01",
"case_text": "The patient, a 23-year-old female, was admitted to the hospital with a one-day history of cough, expectoration, and fever. Her sputum appeared yellow, and a positive result was obtained for the nucleic acid of influenza A virus. Test results showed PCT was 72.8ng/mL, C-reactive protein was 216.15mg/L, neutrophil percentage was 94.9%, WBC was 10.31x109/L, and the chest X-ray displayed the presence of multiple patchy and stripe shadows in both lungs ( Figure 1A ). Severe pneumonia caused by influenza A virus was initially diagnosed. (The treatment timeline for the patient during hospitalization is presented in Table 1 ). Despite a 2-day treatment regimen involving piperacillin sodium, tazobactam sodium antimicrobial, oseltamivir antiviral therapy, atomization, and anticoagulation, the patient's condition deteriorated with worsening cough and bright red bloody sputum. Furthermore, it became challenging to maintain normal oxygenation levels under mask oxygen inhalation, and multiple organ damage appeared. The clinical manifestations included liver dysfunction, renal dysfunction (Urea/Crea: 159), myocardial damage (myoglobin: 145.4ng/mL), and sputum smear analysis revealed the presence of gram-negative bacilli and gram-positive cocci, indicating a severe bacterial infection. Taking into account the patient's condition and the sputum smear results, we modified the empirical antibiotic therapy to include a combination of imipenem cilastatin sodium, and linezolid. Simultaneously, the patient received high-flow oxygen therapy and intermittent non-invasive ventilator-assisted respiration while actively collecting respiratory secretion samples for pathogenic microorganism detection. On admission, the patient exhibited low immune indicators, including a lymphocyte percentage of 4.3%, lymphocyte absolute value of 0.44x109/L, IgG level of 7.01g/L, C3 level of 0.55g/L, CD3+ count of 42.9%, and CD3 + CD4+ count of 24.3%. These findings were associated with decreased immune function resulting from influenza A infection. Thymalfasin administration was initiated to improve immune response. Subsequent sputum cultures revealed the presence of Klebsiella and Methicillin-sensitive Staphylococcus aureus (MSSA), while respiratory failure showed improvement (switched from high-flow oxygen therapy to nasal cannula oxygen therapy) and the infection index decreased. Consequently, the initial anti-infection treatment plan was maintained.\nOn the eighth day of admission, the patient was conscious but not in good spirits. Reexamination of chest CT showed the presence of newly developed multiple air cysts in both lungs and a new pneumothorax in the left lung ( Figures 1C, D ). Closed thoracic drainage was performed, extracting a significant amount of gas, and purulent and bloody fluid from the drainage tube. The PCT levels continued to decrease, whereas the hemogram showed higher values compared to previous results. Based on the presence of lung abscesses and pneumothorax in the CT scan, we concluded that the Staphylococcus aureus infection was not effectively controlled. Therefore, we intensified the treatment against gram-positive cocci by adding vancomycin. On the 11th day of admission, the reexamination of influenza A nucleic acid turned negative, leading to the discontinuation of oseltamivir. Subsequent chest CT revealed an escalation in bilateral pleural effusion, enlargement of the left pneumothorax, and the appearance of a new right pneumothorax ( Figures 1E, F ). Closed thoracic drainage was performed on the right side, from which a significant volume of gas, purulent and bloody fluid was visible. On the thirteenth day of admission, the patient was in poor spirits, and the chest X-ray revealed deterioration of the pneumothorax in the left lung, along with left lung atelectasis ( Figure 1B ). On the seventeenth day of admission, the patient developed numerous pink rashes on her face, neck, chest, and abdomen. As a priority, we considered atopic dermatitis and conducted a screening for potentially allergenic medications. Additionally, the chest CT scan revealed the presence of large cavities and abscess cavities in both lungs ( Figures 1G, H ). Fiberoptic bronchoscopy revealed congestion and edema of the mucosa in both the left and right main bronchi and the lavage fluid exhibited characteristics resembling meat wash. The bronchoalveolar lavage fluid was collected for pathogen culture and inoculated on blood agar plates, chocolate plates, and MacConkey plates. After 24 hours of incubation, needle-like colonies were observed. After 48 hours of incubation, a significant number of fluffy white colonies appeared on blood agar plates ( Figure 2A ) and chocolate plates ( Figure 2B ), with visible growth of mold hyphae under the microscope. Considering both the CT images and the aforementioned findings, a diagnosis of filamentous fungal infection was made. Antifungal therapy was initiated with the addition of voriconazole and caspofungin. It is noteworthy that since the patient's admission, we conducted multiple G tests and GM tests, all yielding negative results. Additionally, we repeatedly examined bronchodilator vascular fluid and sputum cultures, all of which tested negative except for the presence of fungal hyphae. Subsequently, sputum samples were sent for further fungal culture and inoculated onto Sabouraud agar plates. Following a 24-hour incubation period, colonies on the plates exhibited a villous, white appearance with a dark olive green center and brown on the opposite side ( Figure 2C ). Lactic acid phenol cotton blue staining was conducted, revealing an erect, brown conidiophore under the microscope. The conidia had 3 septa of 4 cells, the third of which was curved, darker in color and larger in size ( Figures 2D, E ). The sputum culture results indicated the presence of C. lunata. Immediate antifungal treatment was initiated with amphotericin B cholesteryl sulfate complex and isavuconazole.\nOn the 24th day of admission, the patient exhibited signs of mental confusion, severe impairment of spirits, ongoing deterioration of her condition, and an escalation of dyspnea (assisted by noninvasive ventilation). The patient experienced gastrointestinal symptoms including gastric retention, gastroparesis, and evident abdominal distension. Gastrointestinal dysfunction resulting from sepsis was taken into consideration, prompting an intensification of gastric motility drugs. Simultaneously, enteral nutrition was decreased and parenteral nutrition was introduced. The patient's lymphocyte absolute value exhibited a persistent downward trend, necessitating the administration of gamma globulin to enhance her immune response. Considering the patient's complex condition with difficulties in resolving bilateral pneumothorax, addressing empyema absorption, and persistent atelectasis, a multidisciplinary consultation (MDT) was conducted. It was recommended to replace the drainage tube with a larger diameter to facilitate prompt lung recruitment. Following the replacement, significant quantities of gas and purulent and bloody fluid continued to be drained from the bilateral chest drainage tubes, with chest X-rays indicating a slight re-expansion of the right lung.\nOn the 25th day, the patient experienced severe cough, chills, high fever, and pronounced dyspnea, with challenging maintenance of oxygen saturation. The patient received emergency treatment involving endotracheal intubation and mechanical ventilation to aid respiration. Under pure oxygen conditions, the blood oxygen saturation level was maintained at 85 - 92%, after which the patient went on to develop shock. The norepinephrine dosage administered was 0.8 mug/kg/min. Electronic bronchoscopy revealed marked airway hyperemia and edema, accompanied by the presence of bloody secretions within the airway. On the 27th day, the patient's shock continued to worsen without any reduction in ventilator support. The patient was complicated with liver dysfunction, aspartate aminotransferase (AST) was 4283U/L and alanine transaminase (ALT) was 1954U/L, lactic acid increased progressively, and the mouth and nose kept bleeding. The patient's condition was considered to be aggravated, with poorly controlled infection and secondary disseminated intravascular coagulation. According to the situation, the patient was given an infusion of fresh plasma, prothrombin complex, human fibrinogen, anti-fibrinolytic therapy, and rescue treatments such as rehydration and correction of acidosis. Under the condition of ventilator-assisted respiration and the use of large doses of vasoactive drugs, the patient's basic vital signs were still difficult to sustain and the patient eventually died.",
"gender": "Female"
}
] |
PMC10757332
|
[
{
"age": 14,
"case_id": "PMC11063303_01",
"case_text": "A 14-year-old boy was referred to our Pediatric Gastroenterology Unit at Vittore Buzzi Children's Hospital in Milan in June 2018, with a one-year history of upper abdominal pain, repeated nonbilious vomiting, and occasional dysphagia. Five kilograms were lost yearly; no diarrhea or gastrointestinal bleeding were reported. He had suffered from recurrent aphtous stomatitis and allergic oculorhinitis from age 8. Neither allergic asthma nor chronic rhino-sinusitis with polyposis were associated. His family history included allergic asthma and psoriasis.\nAt referral, his weight was 56 kg (0 SD); his height was 165 cm (0 SD). His clinical examination was unremarkable, except for upper abdominal tenderness.\nBlood tests revealed mild eosinophilia (Eo 1,000/mm3) and increased total IgE (341 kU/L). Erythrocyte sedimentation rate (ESR), C reactive protein (CRP), liver and pancreatic tests were normal; serum albumin was normal. Fecal calprotectin and parasitological examination resulted negative. Skin prick tests were positive for some inhalants, and negative for food allergens.\nAbdominal ultrasound showed dilation of common hepatic, common bile, cystic and pancreatic ducts. The magnetic resonance cholangiopancreatography confirmed the dilation of the biliary tract, while the pancreas resulted normal. A congenital malformation of the biliary tree (choledochal cyst) was hypothesized. Moreover, a thickening of the wall of the descending duodenum was observed and confirmed by a magnetic resonance enterography. No other involvement of small bowel was detected.\nEsophagus-gastro-duodenoscopy (EGD) revealed a pale, mild trachealized esophagus with longitudinal furrows (Figure 1), normal gastric mucosa, and the presence of an edematous duodenal bulb associated with a tight stenosis of the descending duodenum (Figure 2); a neonatal endoscope was effective in overcoming the narrowing, and a post-stenotic juxta papillary ulceration was identified (Figure 3). Ileocolonoscopy was normal.\nEosinophilic inflammation was found in all the biopsies, but the gastric ones: >60 eosinophils/high power field (HPF) in the terminal ileum and colon, >30/HPF in the duodenum, >15/HPF in all the esophageal tracts; clusters of eosinophils were detected with focal epithelial infiltration. Neither parasites nor tumoral cells, morphological elements attributable to inflammatory bowel diseases or other microscopic colitis were identified.\nThe final diagnosis was EGID: eosinophilic esophagitis and enteritis; we could not confirm a colonic involvement due to the lack of assessment of the precise eosinophilic count in biopsies, as compared to the criteria proposed by Collins and colleagues, and the absence of symptoms suggestive of colitis.\nA course of systemic steroids (prednisone 40 mg/day for 2 weeks, then tapered in 10 weeks) was prescribed, associated with proton pump inhibitors (PPI) (esomeprazole 40 mg/day), with a prompt clinical response. The follow-up EGD, performed after 4 weeks of treatment, showed a global improvement: the esophagus was easily distensible without trachealization and only mild exudate; the descending duodenum stenosis, though still present, was passable by a 9 mm endoscope; the duodenal mucosa in the post-stenotic tract appeared repaired. Histological examination documented the absence of eosinophilic inflammation in all the examinated fragments.\nAs a maintenance treatment, a 3-food (milk, egg, and wheat) elimination diet was then prescribed; however diet therapy success was limited by poor patient adherence.\nThe patient experienced a clinical relapse 1 month after the discontinuation of steroids; the upper GI series confirmed the recurrence of duodenal stenosis (Figure 4).\nTherapy with systemic steroids and PPI was successfully restarted and associated with azathioprine (2 mg/kg/day) as a maintenance treatment. Oral budesonide was started at prednisone tapering.\nA 3-month-follow-up EGD revealed a passable duodenal stenosis. Histological examination of gastric and duodenal biopsies revealed the absence of eosinophilic inflammation.\nA third relapse occurred six months later, requiring a course of intravenous methylprednisolone; a maintenance therapy of montelukast 10 mg/day was associated with azathioprine.\nDue to oral feeding intolerance and weight loss, a total pre-pyloric enteral nutrition with hydrolyzed formula was started and administered by nasogastric tube.\nThe magnetic resonance enterography showed a worsening in duodenal wall thickening; moreover, gastric wall thickening was encountered, suggesting an eosinophilic muscular infiltration of the stomach. A non-passable stenosis was confirmed by EGD.\nGiven the ineffectiveness of medical therapy in preventing the recurrence of duodenal stenosis, with consequent persistent oral feeding intolerance and the high psychological impact related to enteral nutrition and repeated hospitalizations, we decided to perform, in September 2020, a video-laparoscopic side-to-side gastro-jejunum anastomosis by a stapler device without any resection, to obtain a surgical bypass of the obstructed duodenum. Endoscopic dilatation of the duodenal stenosis was not technically possible because of the proximity to the biliary papilla. Unfortunately, it was impossible to take full-thickness biopsies of the thickened duodenal bulb and stomach because of the extreme stiffness of the wall.\nSurgery effectively relieved the patient's symptoms, allowing a gradual withdrawal of enteral nutrition. Medical therapy with montelukast and oral budesonide was continued while azathioprine was suspended because of hematological side effects. Follow-up endoscopies, performed 6 and 18 months after the surgical treatment, showed an improvement in the duodenal stenosis, highlighting a possible beneficial effect of partial bowel diversion on EGID remission. After the 18-months-follow-up EGD, budesonide was suspended while therapy with montelukast is still ongoing, associated with omeprazole. Follow-up magnetic resonance enterography, performed 36 months later, showed stable duodenal involvement without pre-stenotic dilatation. Follow-up EGD is scheduled.\nNo clinical relapses occurred 36 months after surgery with a great amelioration and normalization in the patient's quality of life.",
"gender": "Male"
}
] |
PMC11063303
|
[
{
"age": 34,
"case_id": "PMC10787133_01",
"case_text": "Syphilis prevalence is still high, especially among the key populations in the world, such as the male-sex-male group. The key population also becomes an important cofactor of human immunodeficiency virus (HIV) transmission. Cutaneous manifestations presenting as EM-like eruption in secondary syphilis are very uncommon, thus making the diagnosis challenging. Furthermore, HIV coinfection often makes syphilis manifestations more atypical. We describe an atypical case of a 34-year-old male-sex-male patient with secondary syphilis and HIV coinfection resembling erythema multiforme clinically and histologically who showed significant improvement with a single dose of benzathine penicillin injection of 2,4 million IU therapy.",
"gender": "Unknown"
},
{
"age": 34,
"case_id": "PMC10787133_02",
"case_text": "Patient information: a 34-year-old male-sex-male patient with a history of receiving 1st dose of coronavirus disease 2019 (COVID-19) vaccine 1 week earlier presented with complaints of slightly pruritic red skin patches on his trunk and extremities, including his palms and soles, for 6 weeks. No history of fever, cough, running nose, sore throat, mouth ulcers, weight loss, hair loss, genital ulcers, or mouth ulcers. There was also no history of taking medicines and food supplements, smoking, drinking alcohol, and a blood transfusion before. No history of the same complaints in his family.\nClinical Findings: the patient was well-oriented and had normal vital signs. The physical examination showed multiple sharply demarcated erythematous annular scaly plaques with a necrotic area in the center which looked like targetoid lesions with a diameter between 3-6 cm on his lower extremities (Figure 1). There were also multiple erythematous macules and plaques on his trunk and upper extremities, some lesions were scaly and confluences. Palms and soles are also affected (Figure 2). No lymphadenopathy or lesions were found.\nDiagnostic assessment: the potassium hydroxide examination was negative. The IgM and IgG anti-herpes simplex virus (HSV)-1 and anti-HSV-2 serology examinations were non-reactive. The histopathology examination revealed basal cell vacuolar degeneration in the epidermal layer and the dermal layer showed lymphocytic infiltrates along the dermal-epidermal junction and the superficial dermis, consistent with EM (Figure 3). The dark field microscope examination showed negative results for spirochetes. The blood test results were reactive for venereal disease research laboratory (VDRL) with a titer of 1: 128 and Treponema pallidum hemagglutination assay (TPHA) with a titer of 1: 40960, while the HIV serology was reactive with a cluster of differentiation-4 (CD4)+ value of 461 cells/microl. Complete blood count examination showed normal Hb 13,5 g/dl, thrombocytes 46.000/microl, white blood cells 8.500/microl, eosinophil 3%, basophil 1%, neutrophil 69%, monocytes 11%, lymphocytes 16%. Immunohistochemistry and the Warthin-Starry technique for finding spirochetes in tissue sections of secondary syphilis lesions couldn t be performed due to unavailability in our hospital. Polymerase chain reaction (PCR) examination for treponema also could not be done due to unavailability.\nDiagnosis: secondary syphilis with HIV-coinfection.\nTherapeutic interventions: the patient received 2,4 million IU of single-dose benzathine penicillin along with antiretroviral therapy.\nFollow-up and outcome of interventions: the lesions showed significant improvement with a decline of syphilis serological titer after 3 months follow-up became VDRL 1: 4 and TPHA 1: 640, and after 6 months follow-up became VDRL 1: 1 and TPHA 1: 320.\nPatient perspective: \"I was shocked when I found out that I got syphilis and HIV positive, but I feel more relieved because I can get the proper treatment and some of the red patches have disappeared. Hopefully, I can get treatment more regularly and my condition will be improved.\"\nInformed consent: it has been signed by the patient.",
"gender": "Male"
}
] |
PMC10787133
|
[
{
"age": 64,
"case_id": "PMC10998482_01",
"case_text": "A 64-year-old female with hypertension, systemic lupus erythematosus (SLE) (diagnosed outside the hospital and left untreated by self-discontinuation of the medication), rheumatoid arthritis (RA), history of deep vein thrombosis, and MZL of the conjunctiva (since 2021) was admitted to the hospital due to severe anemia. She was found to have a right renal mass on a computed tomography scan. She underwent a biopsy of the mass, which showed recurrent MZL. Rituximab was initiated with the continuation of hydroxychloroquine. A month later, the patient presented to the hospital due to a rash for 1 week. The rash started on her left lower extremities and subsequently spread to the abdomen, back, and contralateral side. She had self-discontinued hydroxychloroquine 3 weeks prior to admission. Upon presentation, the patient was hemodynamically stable, with vital signs only remarkable for mild tachycardia, a heart rate of 117 beats per minute. Physical examination revealed a petechial nonblanching rash on the abdomen and lower extremities along with some purpura and blisters on the lower extremities and bilateral lower extremity 2+ pitting edema. The rash was ultimately diagnosed as leukocytoclastic vasculitis (Figure 1).\nInitial laboratory results showed mild neutrophilia, mild normocytic anemia, thrombocytosis, elevated blood urea nitrogen and creatinine, metabolic alkalosis, abnormal coagulation profile including elevated prothrombin time and international normalized ratio, elevated erythrocyte sedimentation rate and C-reactive protein, hypoalbuminemia, and remarkably elevated ferritin (Table 1). Viral serology screening, including hepatitis panel and HIV, was negative. The patient was admitted with a working diagnosis of severe sepsis; her inpatient course was complicated by acute hypoxic respiratory failure secondary to cryptococcal pneumonia and pulmonary edema, necessitating mechanical ventilation. Hemodialysis was initiated due to oliguric AKI and volume overload. Kidney biopsy revealed findings with multiple small renal arteries occluded by macrophages leading to ischemic acute tubular necrosis and no evidence of glomerulonephritis (shown in Figure 2). The H-score was 135, conferring a 9% to 16% likelihood of HLH. The patient was started on high-dose steroids, cyclophosphamide 750 mg, etoposide, vincristine, and hydroxychloroquine. There was an improvement in her respiratory status and laboratory parameters as leukocytosis and thrombocytosis resolved. The patient's clinical condition improved significantly to the point that she was discharged home. She remained oliguric with plans to continue outpatient hemodialysis and chemotherapy.",
"gender": "Female"
}
] |
PMC10998482
|
[
{
"age": 73,
"case_id": "PMC10559532_01",
"case_text": "A 73-year-old, right-handed Caucasian woman, presented to the emergency department with a 1-week history of confusion, aphasia, and fluctuating consciousness. She experienced a decline in mental status and headaches the day before. Neurological examination showed a disoriented, cooperative female with severe mixed expression aphasia and a left extensor plantar cutaneous reflex. Past medical history was positive for hypertension, type 2 diabetes mellitus, and dyslipidemia, and the patient had no previous cardiovascular events. Non-contrast head CT showed a median shift to the right and suggestive findings of brain edema. Magnetic resonance imaging (MRI) revealed a 3.3 x 2.4 cm lesion in the left temporal lobe with hyposignal on T2, an intermediate signal on T1, diffusion restriction, and intense homogeneous contrast enhancement [Figures 1, a-c, respectively]. Laboratory findings in the blood serum excluded human immunodeficiency virus (HIV), Epstein-Barr virus (EBV), and opportunistic infections. A cerebrospinal fluid (CSF) analysis was not performed due to the high risk of brain herniation associated with the patient's condition. Metastatic cancer workup was negative. The patient was transferred to the neurosurgery service and underwent left frontotemporal craniotomy, anterior temporal lobectomy, and intraoperative frozen section of the sample specimen, suggestive of lymphoma. Histopathological and immunohistochemistry confirmed DLBCL [Figure 2]. She was discharged on the 10th postoperative day with a Glasgow Coma Scale (GCS) score of 14 due to disorientation. Fifteen days of hospital discharge, neurosurgical follow-up revealed continuous clinical improvement with a maximal GCS score (full orientation restored), and fluent speech. Two-month postoperative, MRI showed partial resection of the left temporal lobe lesion [Figure 3]. The referral to hematological care was promptly initiated. Most guidelines recommend a 3-month MRI for better surgical outcome evaluation; the tumor's known aggressiveness, however, was crucial for an earlier MRI request. Ninety days post surgery, she was undergoing combination chemotherapy with rituximab plus 2 g/m2 methotrexate (MTX) and 2 g/m2 cytarabine in a 15-day interval regimen. Control MRI revealed the absence of the previous lesion [Figure 4], suggesting a complete response. After the second follow-up with a sustained recovery, the patient was scheduled for regular 6-month interval visits at the neurosurgery clinic. Diffusion tensor imaging, fiber tractography (DTI tractography), and fractional anisotropy data were collected [Figure 5], the Western aphasia battery was applied, and the aphasia quotient calculated to assess residual symptoms, which showed mild sensory aphasia related to naming objects. The patient's severe initial presentation and the importance of an early pathological diagnosis led us to perform DTI postoperatively. Tractography studies are neither routinely requested nor widely accessible in our public health system. The PCNSL diagnosis, poor prognosis, and high recurrence rates were critical to obtaining this data. The patient continued follow-up and chemotherapy, tolerating the treatment well to reach six infusions. After the therapeutic regimen was completed, she was discharged from the hematology services. Thus far, the patient has survived 10 months since hospital admission.",
"gender": "Female"
}
] |
PMC10559532
|
[
{
"age": 83,
"case_id": "PMC10601738_01",
"case_text": "We present the case of an 83-year-old female with a medical history of cigarette smoking (approximately six cigarettes per day since the age of 20), ischemic and hypertensive heart disease, and a previous stroke in 2019 without any motor function impairment. Additionally, the patient suffered from chronic obstructive pulmonary disease, osteoporosis, and arthrosis. Her current medication regimen included clopidogrel/acetylsalicylic acid, candesartan, cilexetil, and simvastatin. During physical examination, a 2 cm ulcerative lesion with raised borders and dried blood was observed on the left nasal vestibule involving the cutaneous part of the nostril (Fig. 1a). Following a dermatological examination, an incisional punch biopsy (3 mm) was performed, confirming the presence of SCC. Following a comprehensive assessment conducted by plastic and reconstructive surgery specialists, it was determined that surgical intervention was not a viable option for the patient due to considerations such as the tumor's location, the patient's advanced age, and the presence of comorbidities. Additionally, due to the patient's overall health status, the radiation oncologist determined that radiotherapy was not a viable option. Given the contraindications to surgical therapy and radiotherapy, the patient was initiated on treatment with cemiplimab. The recommended dosage was 350 mg intravenously over 30 min every 3 weeks. After three treatment cycles, the patient exhibited an excellent response, with significant tumor reduction (Fig. 1b). The patient tolerated the therapy well without experiencing any side effects, the patient is continuing the therapy, she has currently completed 4 cycles.",
"gender": "Female"
}
] |
PMC10601738
|
[
{
"age": 14,
"case_id": "PMC11183786_01",
"case_text": "A 14-year-old Han Chinese girl raised as a female with nonconsanguineous parents was admitted to our clinic on August 1, 2023, with a chief complaint of breast development over the past four years without the onset of menstruation. The child exhibited good academic performance and female-like behavior. Breast development commenced four years prior, yet menarche had not occurred. Approximately one year ago (August 2022), a pelvic ultrasound performed at the primary hospital revealed an immature uterus and small gonads bilaterally. Karyotype analysis demonstrated a 46,XY genotype. For further diagnosis and treatment, the patient was admitted to our center on August 1, 2023. Since the onset of the condition, the patient has not manifested symptoms such as dizziness, headache, polydipsia, polyuria, vision impairment, hearing loss, or olfaction dysfunction.\nThe patient was generally healthy with no history of exposure to toxins, radioactive substances, or contraceptives. Personal history: The patient was the first pregnancy and birth of the mother and was delivered at a gestational age of 39 weeks through an uneventful vaginal delivery. Her birth weight and length were 3.1 kg and 50 cm, respectively. The mother had an uneventful pregnancy course. Family history: The paternal and maternal heights were 165 cm and 155 cm, respectively. The target height was 153.5 +- 5 cm for the female, and 166.5 +- 5 cm for the male. Both parents had normal development during puberty. The patient's younger sister, aged 4 years and 10 months, exhibited normal growth and development. However, the parents declined to consent to a karyotype analysis for her. Her maternal grandmother and two maternal aunts (II-4, II-5; Figure 1B) had regular menstruation and normal fertility. Four maternal female cousins (III-3, III-4, III-6, III-7; Figure 1B) were unmarried and had never been pregnant but had regular menstruation. Two maternal male cousins (III-5 and III-8; Figure 1B) did not complain of micropenis.\nThe patient's attire and mannerisms were feminine. Other physical measurements were recorded as follows: height 163 cm, weight 46 kg, and blood pressure 117/70 mmHg. The skin appeared smooth and devoid of acne. No palpable masses were identified in the inguinal region or labia majora. In terms of Tanner staging, the patient exhibited the following characteristics: Tanner stage 2 for axillary hair, Tanner stage 4 for breast development, with bilateral glandular nodules measuring 7 cm in diameter, and Tanner stage 3 for sparse pubic hair. The clitoris measured 0.8 cm x 0.4 cm, with separate urethral and vaginal openings. The external genitalia displayed a normal female appearance, and the External Masculinization Score (EMS) was recorded as zero.\nFurther examination conducted at our center revealed that there were no abnormalities in the routine blood and urine tests. Additionally, there were no abnormalities detected in liver function, kidney function, blood glucose, blood lipids, or electrolytes. The 8AM cortisol concentration was 242.83 nmol/L, while the 8AM adrenocorticotropic hormone concentration was 3.77 pmol/L. Thyroid function was found to be within normal limits.\nSerum levels of beta-human chorionic gonadotropin, alpha-fetoprotein, and carcinoembryonic antigen were within the normal range. FSH (13.43 IU/L), LH (31.24 IU/L), and T (14.95 nmol/L) were significantly elevated. Particularly noteworthy was the disproportionately higher serum LH level compared to the serum T level (Table 1). DHEAS (12.21 micromol/L), 17-alpha-OHP (34.55 nmol/L), and A4 (10.8 nmol/L) were also significantly elevated as summarized in Table 1. Her sex hormone-binding globulin (SHBG) concentration was 38.00 nmol/L, with a calculated free androgen index (FAI) of 39%. However, despite these findings, the patient did not exhibit clinical signs of hyperandrogenism, such as hirsutism or acne. Notably, the concentrations of anti-Mullerian hormone (AMH) and inhibin B (INHB) were markedly elevated at 206.51 ng/ml and 250.00 pg/ml, respectively, which are notably high for a female individual.\nThe patient exhibited elevated levels of T, INHB, and AMH, indicating the likely presence of testicular tissue. A repeated pelvic ultrasound revealed nodules at the inguinal ring on both sides (approximately 1.2 cm x 0.6 cm on the left and 1.2 cm x 0.7 cm on the right), probably indicating the testes. However, the uterus and bilateral accessories were not visualized. Pelvic magnetic resonance imaging (MRI) showed no evidence of a uterus or bilateral accessories. The nodules observed on both sides of the pelvic wall were identified as testes (size 11 x 18 mm on the left side, size 24 x 11 mm on the right side), with a slightly high signal on T2-weighted imaging (T2WI) and marked enhancement (Figure 1A). Additionally, no abnormalities were detected on pituitary MRI.\nFollowing the acquisition of informed consent from the patient and her parents, whole-exome genetic testing was conducted by Guangzhou Kingmed Center for Clinical Laboratory Co., Ltd. Molecular diagnosis unveiled an AR variant in hemizygosity (c.2359C > T, p.Arg787*), inherited from the mother (Figure 1B,C). Moreover, no aberrations were detected in the AMH and AMHR2 genes. It is noteworthy that several researchers have previously documented the occurrence of the same site mutation in the AR gene among individuals diagnosed with AIS.\nThe patient was raised as a female and exhibited breast development and female external genitalia. Imaging of pelvic MRI suggested the presence of testicular tissue in the body. Elevated levels of T, AMH, and INHB, accompanied by increased FSH and LH levels, were noted. The karyotype was 46,XY. Based on these findings, a preliminary diagnosis of AIS with a completely female external genital phenotype was established. There is an increased risk of gonadal malignancies due to the assignment of a female gender to the patient and the likelihood of an CAIS diagnosis (genetic results were unavailable at the time of surgery).\nFollowing comprehensive communication with the parents and obtaining informed consent, the patient underwent laparoscopic examination. On August 18, 2023, in the pediatric surgery department, bilateral orchiectomy and vaginography procedures were conducted. Under laparoscopic view, the left internal ring was closed, while the right internal ring was still open. No vas deferens-like structures were identified at either internal ring. Gonad-like tissues approximately 2.5 cm x 1.0 cm in size were observed adjacent to the iliac vessels on both sides (Figure 2A). The bilateral gonads were connected to a uterine-like structure (Figure 2B). Subsequently, bilateral gonadal excisions were performed. Vaginography revealed a vaginal length of approximately 8 cm, with no discernible image of the uterus (Figure 2C).\nHistopathology examination revealed bilateral gonadal tissue (Figure 2D) with immature seminiferous tubule-like structures under the microscope. The tubules contained only Sertoli cells (Figure 2E) with an absence of spermatogenic cells. Furthermore, significant proliferation of interstitial Leydig cells was observed (Figure 2F). Additionally, structures resembling fallopian tubes (Figure 2G) and mesenteric cysts were identified.\nThree days post-surgery (August 21, 2023), repeated blood tests revealed the following results: E2 < 36.7 pmol/L, FSH 71.10 IU/L, LH 40.95 IU/L, T 0.83 nmol/L, P 0.32 nmol/L, DHEAS 5.18 micromol/L, A4 < 1.05 nmol/L, 17-OHP 0.67 nmol/L, AMH 87.86 ng/ml, and INHB 20.00 pg/ml (Table 1). Following orchiectomy, there was a notable decrease in E2, T, and androgen precursor hormones, accompanied by significant increases in FSH and LH levels. These findings are indicative of a hypergonadotropic hypogonadism state.\nThe patient was prescribed estrogen replacement therapy (0.5 mg of estradiol valerate once daily) to maintain secondary sexual characteristics such as breast development and to prevent osteoporosis. Additionally, the parents were counseled to disclose the patient's condition under suitable circumstances, with the provision of psychological support as needed. Furthermore, a plan to perform a hysterectomy for the underdeveloped uterus during the upcoming winter vacation was proposed.\nThe following are the inclusion criteria for CAIS patients in the literature: 1. Genetic confirmation of CAIS. 2. An MDR is present. 3. A comprehensive description of the Mullerian duct's structure and hormone profiles is provided. 4. Research that is available in full text.\nCase search strategy: The search was conducted up to November 1, 2023. We searched for ([Androgen Insensitivity Syndrom*(MeSH Terms)] OR [Androgen Resistance Syndrom*(MeSH Terms)] OR [Male Pseudohermaphroditism Due to Androgen Insensitivity(MeSH Terms)] OR [Reifenstei* Syndrome(MeSH Terms)] OR [Testicular Feminizatio*(MeSH Terms)] OR [Androgen Receptor Deficien*(MeSH Terms)] OR [AR Deficien*(MeSH Terms)] OR [DHTR Deficien*(MeSH Terms)] OR [Dihydrotestosterone Receptor Deficien*(MeSH Terms)]) AND (Mullerian) in the PubMed.\nThere are 127 records according to the case search strategy. We manually screened patients diagnosed with CAIS coexisting with MDRs, resulting in a total of seventeen reports. After excluding six reports that did not undergo genetic testing and two reports failed to obtain full text, eleven cases remained for further analysis.\nData form eleven eligible CAIS patients were retrieved from the literature. Combined with the case reported in this article, a total of 12 patients of CAIS with MDRs have been documented (Table 2). Of these twelve patients, eight had uteruses, including our patient. Among these individuals, patients 1, 2 and 12 underwent laparoscopy to find the uterus. In patients 4, 11, the uterus is found by MRI or ultrasound. In patients 6, 8, 9, the uterus was confirmed pathologically. The initial clinical presentation, biochemical profile, and gonadal pathology of CAIS patients with MDRs were found to be similar to those without MDRs. Patients 8 and 9 were from the same family, and shared identical genetic mutations. Among the cases reviewed, six patients were admitted for inguinal hernia, five for primary amenorrhea, and patient 11 for central precocious puberty with cyclical episodes of vaginal bloody spotting. All patients were diagnosed with CAIS confirmed by molecular testing and raised as females, with heights in the medium to upper average range. The age at diagnosis varied widely, spanning from birth to 22 years. Notably, patient 6 was diagnosed with CAIS in utero, and the pregnancy was terminated at 20 weeks of gestation. Among post-pubertal patients, varying degrees of breast development and sparse pubic hair growth were observed. Vaginal length ranged from 4 to 8 cm, indicating upper vaginal development from the MD in some patients. Specifically, six of the twelve patients had testes located in the inguinal canal, while five had testes in the abdominal cavity. Among the patients, one had a left testis in the abdominal cavity and another in the inguinal canal. According to the laparoscopic or pathological findings, fallopian structures were observed in 10 out of the 12 patients, uterine structures in 8 patients, and both fallopian and uterine structures in 6 patients. Notably, in patients older than 10 years, the concentration of LH was significantly elevated to >10 IU/L in 6 cases, with a mean value of 26.9 IU/L. Histological examination of the testes revealed Leydig cell hyperplasia in 4 out of 9 patients, while Sertoli cells were either normal or abundantly present. Germ cells were observed in younger patients, specifically patients 3 and 4; In contrast, germ cells were nearly absent in older patients, specifically patients 8 and 9, presenting as only Sertoli cells without germ cells. Genetic analysis identified mutations in the DNA-binding domain (DBD) of the AR gene in two out of the twelve patients, while eight patients (66.7%) in the ligand-binding domain (LBD). Among the twelve patients, one had a nonsense mutation in the AR gene, three had frameshift mutations, and eight (66.7%) had missense mutations.",
"gender": "Female"
}
] |
PMC11183786
|
[
{
"age": 24,
"case_id": "PMC11163128_01",
"case_text": "A 24-year-old woman presented to our neurology department with complaints of occasional headaches and bipolar disorder. Two years ago, she was diagnosed with ONFH during a visit to the orthopedics department due to hip joint pain. The pain progressively worsened, impairing her ability to walk, necessitating the use of crutches and other assistive devices. She has no significant medical or medication history. While occasionally taking nonsteroidal anti-inflammatory drugs (NSAIDs) for headaches, she did not receive specific treatment for other psychoneurological symptoms and ONFH beyond weight-bearing reduction. Currently, she seeks further evaluation for surgical intervention in the orthopedics department (Figure 1A).\nHer laboratory tests revealed normal levels of calcium, phosphorus, and parathyroid and thyroid-stimulating hormones in the blood. A head computed tomography (CT) scan showed bilateral basal ganglia calcification (Figure 1B). Coronal T1-weighted magnetic resonance imaging displayed slightly hypointense lesions in both femoral heads, with a more pronounced pattern on the right side (Figure 1C).",
"gender": "Female"
},
{
"age": 50,
"case_id": "PMC11163128_02",
"case_text": "Her 50-year-old father had a history of occasional headaches, depression, and ONFH in his youth. He underwent surgical treatment for ONFH but did not receive specialized neurological treatment. His head CT revealed mild bilateral basal ganglia calcification (Figure 1B).\nAlthough the patient's mother is healthy, her grandfather, uncle, and cousin have not undergone head CT or genetic testing for similar medical histories (Figure 1D).\nAfter obtaining written informed consent from the patient's family, blood samples were collected from the patient and his parents. Genomic DNA was extracted using a blood extraction kit (Tian Jing Biochemical Technology Beijing, Ltd.). Genetic testing was performed using whole-exome high-throughput sequencing technology on the Illumina platform, and the data were analyzed using the Verita Trekker Variant Site Detection System and Enliven Variant Site Annotation Interpretation System developed by Berry Genetics (based on the recent version of the dbSNP, 1,000 Genome, gnomAD, CADD, ClinVar, and HGMD database). As a result, a heterozygous variant c.1001G > A (p.R334Q) in the gene PDGFRB (NM_002609.4) was discovered in the patient and her father. These variants were confirmed by Sanger sequencing (Figure 1E). No variants were found in other known PFBC-causal or primary nontraumatic ONFH-causal genes. The p.R334Q variant is located in exon 7 of PDGFRB, which is within an extracellular immunoglobulin (Ig) - like domain (D4) conserved in mammalian species (Figures 1F, 2). This missense variant was reported in genomAD1 at an extreme frequency of 0.00007378. It is predicted to be likely pathogenic according to the ACMG-AMP recommendations (PM1, PM2, PP1, PP3). However, the predicted score by theoretical modelling in the AlphaMissense database 2 is 0.071, which is likely benign.",
"gender": "Male"
}
] |
PMC11163128
|
[
{
"age": 29,
"case_id": "PMC10702714_01",
"case_text": "Patient C. O. M. S, female, 29 years and 7 months old. Presented with a clinical form of relapse-remitting and status not active of the disease. 3 were presented outbreaks, with the first in 2017. The medicine used was Natalizumab.\nReported complaint of vertigo lasting minutes, sporadic onset and abrupt onset. This vestibular symptom started after the first outbreak of the disease and specific treatment was never performed. She also described tinnitus episodes lasting minutes and with acute frequency.\nThe MRI identified ventricular system situation, morphology and normal dimensions. There was no evidence of intracranial expansive processes or extra-axial collections. Multiple and sparse hypersignal foci at T2 (TSE and FLAIR) and hyposignal at T1 (TSE) were observed, with no expansive effect or contrast medium uptake, located in the periventricular deep white matter, corona radiata, semioval centers, callosal-septal interface, as well as in the topography of the pons, bulb and cerebellar hemispheres, compatible with areas of demyelination. The rest of the white and gray substances showed normal signal intensities. There were no areas of restricted diffusion, and the nuclei of the base, thalamus, cortical grooves and cisterns maintained their anatomical appearance. Hippocampus with normal morphology, dimensions and signal strength. There was no anomalous impregnation by the paramagnetic agent.\nIt was verified lateropulsion to both sides in the Romberg and sensitized Romberg tests. The patient was unable to perform the UFT. Dysmetria in the Finger-to-nose and dysdiadochokinesia were observed. The Dix-Hallpike maneuver was negative bilaterally.\nAs for vHIT, in oculomotor tests, the absence of spontaneous nystagmus and the presence of semi-spontaneous nystagmus were observed (gaze) bidirectional horizontal, which hit according to the direction of the evaluated gaze.\nThe VVOR was within normal standards, while the VORS was altered. The compensatory saccades of greater amplitude verified in this examination suggest asymmetry of vestibular response, with the left side considered hypoactive in relation to the right, because it presents saccades of lower amplitude.\nThe saccade test, considering the average of the responses, showed accuracy (97% to the right and 85% to the left), speed (219 /s) and latency to the right (283ms) adequate, but speed to the left (-136o/s) decreased and latency to the left (366ms) increased. It was also observed the presence of hypermetry, that is, saccades with greater amplitude in relation to the target, as a qualitative finding regarding accuracy.\nIn the video head impulse test, reduced VOR gain was obtained for the right posterior SCC, increased VOR gain for the left lateral SCC, and increased asymmetry between the posterior canals (>20%) (Figure 1).\nIt was also verified the presence of hidden and evident compensatory saccades in the right posterior canal, affected by the deficit gain. In the left posterior SCC, saccade-like movements were also observed, but with a lower latency than the appearance of the covered saccades, suggestive of the presence of artifacts, also compatible with the slowing of saccade movements when looking to the left (Figure 1).\nPatient D.A.S., female, aged 36 years and 10 months. The clinical form was secondary progressive MS, with not active disease status. She had 3 outbreaks, the first in 2001. The use of the drug Natalizumab has been described.\nShe complained of body imbalance, starting five years ago and irregular appearance, being accompanied by physiotherapeutic intervention. She also reported worsening of this condition in recent months, given the progressive nature of MS.\nMRI showed multiple lesions in the subcortical and deep white matter, with predominance in periventricular regions, semioval centers, U-fibers of the frontal lobes, some parallel to the septal callus interface and others coalescing, nonspecific, probably related to demyelinating substrate lesions. Rare lesions of the black holes type in semioval centers. Demyelinating plaques with post-contrast enhancement, infratentorial lesions or new lesions were not characterized. Atrophy of the corpus callosum, cerebellum, brain stem and accentuation of the cerebral sulci and cisterns with compensatory ectasia of the supratentorial ventricular system were observed, inferring brain volumetric reduction. There was no evidence of intraparenchymal expansive processes, nor of supratentorial or infratentorial extra-axial collections. The diffusion sequence showed no restriction area, centered fourth ventricle with conserved morphology and centered median structures.\nIn the evaluation of static and dynamic equilibrium, the Romberg test showed no changes and in the sensitized Romberg, instability was observed. The patient was unable to perform the UFT. As for the screening tests of cerebellar function, dysdiadochokinesia was verified, while the Finger-to-nose was normal. The Dix-Hallpike maneuver was negative, bilaterally.\nIn the vHIT, referring to oculomotor tests, it was observed absence of spontaneous nystagmus and presence of semi-spontaneous nystagmus (gaze) horizontal to the left. The saccade test showed mean adequate responses for accuracy (90% to the right and 102% to the left) and speed (199 /s to the right and-263o/s to the left), but latency with a slight increase bilaterally (271ms to the right and 272ms to the left). In VVOR and VORS, no changes were observed.\nThe video head impulse test showed decreased VOR gain for the right anterior and posterior SCCs, as well as increased asymmetry between the posterior canals. In this case, the occurrence of any type of compensatory saccade was not observed (Figure 1).\nPatient A.C.S, female, aged 39 years and 10 months. The MS presented was of the relapse-remitting clinical form, with not active disease status. It manifested only one outbreak in the year 2019. The medicine used was Tecfidera.\nDescribed vertigo and presence of tinnitus in both ears. Reported that these vestibular symptoms began after the first outbreak of the disease.\nMRI examination did not observe infra-or supratentorial expansive processes. Ventricular system with normal situation, morphology and dimensions. Presence of multiple oval-shaped lesions with hypersignal in T2/FLAIR distributed in the periventricular cerebral white matter, with involvement of the corpus callosum trunk, without expansive effect or uptake of contrast medium. There was no restriction to the diffusion of water molecules in the brain parenchyma. Sulcus, fissures and cisterns of anatomical appearance. Craniocervical transition without abnormalities.\nNo changes were observed in the static and dynamic equilibrium tests. The UFT was altered, and an angular deviation greater than 45o to the left was observed.\nThe Diadochokinesis and Finger-to-nose tests were unchanged. The Dix-Hallpike maneuver was negative bilaterally.\nAs for the oculomotor tests of vHIT, the absence of spontaneous and semi-spontaneous nystagmus was observed (gaze). In the saccade test, it presented accuracy (88% to the right and 101% to the left) and latency (206ms to the right and 222ms to the left) within the standards of normality and speed (293o/s to the right and -362o/s to the left) increased. The results of VVOR and VORS showed no changes.\nIn the video cephalic impulse test, there was a deficit of VOR gain for the left anterior canal, as well as an increase in asymmetry between the anterior canals (>20%) (Figure 1).\nThe occurrence of hidden and evident compensatory saccades in the left anterior canal and, only evident, in the right anterior and left posterior canals was verified (Figure 1).\n Chart 1 summarizes the three clinical cases described above.",
"gender": "Female"
}
] |
PMC10702714
|
[
{
"age": 16,
"case_id": "PMC10841782_01",
"case_text": "We report a case of presumed immune-mediated stromal rejection after DALK surgery that was completely reversed with prompt initiation of intensive steroid therapy. A 16-year-old male patient presented to our clinic with defective vision in the left eye (OS) for 2 weeks. He underwent DALK 8 months back in the OS for keratoconus. He had burnt-out vernal keratoconjunctivitis (VKC) and steroid-induced glaucoma in the same eye. He was on loteprednol etabonate 0.5% eyedrops once daily and timolol maleate 0.5% eyedrops twice daily. His uncorrected visual acuity (UCVA) was 1/60, intraocular pressure (IOP) was 12 mmHg, and slit-lamp examination showed temporal graft edema with bullae and loose sutures at 3 and 6 o'clock positions with vascularization [Figs. 1 and 2]. AS-OCT (Heidelberg HRT 3) showed graft edema with central corneal thickness of 955 microns with bullae [Fig. 2]. There was no posterior stromal edema of the host cornea. He was treated with injection dexamethasone 2 mL intramuscularly once a day for 3 days along with subconjunctival injection dexamethasone 0.5 mL stat and started on 0.5% dexamethasone eyedrops six times/day along with 0.3% gatifloxacin eyedrops QID and timolol maleate 0.5% eyedrops twice daily. On follow-up after 5 days, the graft edema had reduced. At 2 weeks, the graft edema had resolved [Figs. 3 and 4], and his UCVA had improved to 3/60. OS AS-OCT showed resolved graft edema with no bullae, and the central corneal thickness was 550 microns [Fig. 4]. His best corrected visual acuity was 5/60. As his IOP was 34 mmHg, dexamethasone eyedrops was changed to loteprednol etabonate 0.5% eyedrops twice daily and started on a combination of timolol maleate and brimonidine eyedrops twice daily. At 2 months follow-up (post-rejection), our patient has been maintaining a BCVA of 5/60, and IOP is being maintained within normal limits. The other eye has a best corrected visual acuity of 6/36 and is maintaining a normal IOP. Presently, the patient is not having any VKC symptoms.\nOur study showed stromal graft rejection 8 months post DALK surgery for advanced keratoconus in a young male patient who was on low-dose topical steroids. After stepping up topical steroids to higher strength along with intramuscular dexamethasone, there were signs of resolving stromal edema, which resolved completely with vision improvement. Our case is similar to a study by Giannaccare et al., where the majority of the rejection episodes occurred within the first postoperative year. Our patient was young; younger age is associated with an increased risk of rejection, supporting findings in other studies that may reflect more active immune response in younger individuals. The early occurrence of stromal rejection, usually within the first year after DALK, suggests that extending the steroidal treatment for up to 12 months postoperatively can prevent the majority of stromal rejection episodes. Our patient had VKC and was a steroid responder, making the slow and gradual tapering of steroid drops challenging. We had to switch to low-dose topical steroids early, which might be a contributing factor. Larger graft sizes tend to be at greater risk for rejection because of their proximity to the limbal blood supply. Similarly, in our case, one contributing factor was a comparatively larger graft in the eye with stromal rejection (8.50 mm) compared to the other eye graft (7.50 mm). One more attributing factor was most likely peripheral vascularization that extended to the graft-host junction [Fig. 1]. The thickness of the graft decreased in the follow-up period after starting prompt steroid treatment [Fig. 4]. In a study by Gonzalez et al., stromal rejection resolved in all eyes after steroid therapy. Furthermore, it seems that with time the risk of epithelial, subepithelial, and stromal rejection episodes might decrease as the host epithelial cells and keratocytes repopulate the donor tissue. Interestingly, the risk of developing an epithelial/subepithelial/stromal immune reaction seems to be considerably higher when compared to PK.\nAdvanced cases may lead to irreversible stromal haze and neovascularization with compromise of stromal clarity. Recognition of early nonspecific and subacute symptoms such as mild light sensitivity and eye irritation, as well as clinical signs of sectoral stromal vascularization and infiltrates, often with accompanying edema, is critical in preventing graft failure. The prompt response to intensive steroid therapy gives additional support to our diagnosis. Thus, it is important for us to understand the nature and likelihood of stromal rejection associated with this procedure and its implications for postoperative management, which can be challenging in VKC and steroid responder cases.\nImmune stromal rejection is a potential complication after DALK surgery, and we should warn the patients regarding its symptoms. Prompt and intensive corticosteroid therapy is of utmost importance for the reversal of graft rejection post DALK.",
"gender": "Male"
}
] |
PMC10841782
|
[
{
"age": 63,
"case_id": "PMC11335732_01",
"case_text": "The subject was a 63-year-old retired professional chamber musician with bilateral hearing loss who used a Phonak Marvel Audeo M-90-RT HA (left ear) and a Med-El CI (right ear) (see Figure 1 for the subject's timeline). She lost hearing in her right ear during childhood after contracting meningitis but did not require amplification at that time. In 2017, the subject was diagnosed with Meniere's Disease, which significantly reduced her hearing in her left ear. In 2018, she received the CI in her right ear and began wearing a HA in her left ear in 2019. In 2021, she reported difficulty tolerating the CI for long periods of time, especially in noisy environments. At that time, she was working with an audiologist, progressing through a series of listening programs for her CI with each program increasing in volume. Once she felt the amplification settings for the CI were tolerable, she sought additional auditory training with a specific interest in music. At the start of experiment 1, she reported wearing her CI and HA for all waking hours.\nThe subject reported that she typically studied, played, and listened to music daily, but after receiving her CI no longer did these activities due to music distortion. Prior to this study, she received aural rehabilitation focused on speech discrimination and comprehension and perception of music features for a limited number of instruments. She expressed interest in improving her enjoyment of music and expanding the number of instruments she could enjoy.\nReview of this study was waived by the institutional review board (IRB) at the University of Colorado Boulder. This IRB does not review single case studies and advised the research team to take steps to protect subject privacy and provide informed consent. Informed written consent was obtained before all aspects of this study. No identifying information is reported here to protect subject privacy.\nCognitive testing and EEG (CAEP) were completed before and after the second home practice program (experiment 2). Due to safety concerns from the COVID-19 pandemic, these measures could not be obtained before and after the first at home practice program (experiment 1).\nA cognitive test battery was completed prior to the start of experiment 2 and repeated 30 days after experiment 2 was completed. The cognitive test battery followed the protocol described in Glick and Sharma and included the following measures: MoCA (The Montreal Cognitive Assessment) was used to assess global cognitive function; BDS-II (Behavioral Dyscontrol Scale II) was used to assess executive function; SDMT (Symbol Digits Modalities Test) was used to assess processing speed; WAIS-IV Digits Backward Subtest was used to assess auditory working memory; WAIS-IV Block Design Subtest was used to assess visual-spatial abilities; COWALT (Controlled Oral Word Association Test) was used to assess verbal fluency; and the RAVLT (Rey Auditory Verbal Learning Test) was used to assess auditory-verbal memory.\nCAEP responses were measured to examine neuroplastic changes in the auditory cortex using the methodology described in Campbell and Sharma. CAEP measurements were collected pre and post experiment 2, on the same day as the cognitive testing. Sound field measurements, at 45 azimuth delivered by two loudspeakers, were obtained at each time point A synthesized speech syllable/ba/ with a duration of 90 ms at an intensity of 60 dB HL was utilized to elicit the cortical auditory evoked response. Nine electrodes were utilized to obtain CAEP responses in order to minimize any artifacts arising from the CI. The active electrode was located at Cz, the ground electrode located at Fpz, and the remaining seven electrodes were positioned along the isopotenital contour. Eye blinks were monitored with electrodes placed at the superior and lateral canthus. All testing took place in an electromagnetically shielded sound booth with the subject seated in a comfortable chair. Ear specific information was obtained by testing the subject's HA and CI separately. Given the subject's degree of hearing loss, they were unable to hear the stimulus in the contralateral ear without the use of a device. The subject's CI and HA were set to their typical settings for all testing.\nThe cortical responses were recorded on a Compumedics Neuroscan system and analyzed using the Scan acquisition software. A sampling rate of 1,000 Hz was employed, and the data were filtered from 0.1 to 1,000 Hz. At least two runs of each condition at each time point were completed to ensure the replicability of responses. Within each run at least 250 epochs, including a 100 ms pre-stimulus and 600 ms post-stimulus time window, were obtained. Epochs containing movement artifacts, identified using a cutoff of +-100 microV, were rejected.\nInstructions and data sheets for the first 3-week daily home practice program were given to the subject during one of her final aural rehabilitation sessions (see Supplementary Material A).\nThe home practice program was completed by the subject in the bimodal mode (CI + HA) independently at home. The program included three listening dosage conditions (daily listening times) and one control condition. The dosage changed for each instrumental group each week (3, 6, or 9 min) for four different instrument groups (horns, flutes, other woodwinds, and trombones). The control condition (trombone) had high likeability ratings prior to the intervention. Each week assigned dosages were changed and maintained for the week (see Figures 2A-D). Previous studies included listening dosages of between 10 and 30 min. Therefore, we selected a total listening dosage for each week that fell within this range (21-27 min) for the first experiment.\nThe subject listened to music recordings daily for each condition for the prescribed listening dosages. Total daily listening minutes aligned with a previous listening therapy study. During each home session, the subject rated the likability of each instrument (dosage condition). The likeability scale was used by the subject in her previous aural rehabilitation sessions and used a Likert scale from 1 to 5 (1 being not enjoyable and 5 being highly enjoyable).\nThe subject chose recordings from a clinician created list of online music links that matched this subject's listening assignments and preferences (e.g., no accompanying instrumentation) and had minimal background noise. She received no other aural rehabilitation while completing the home practice program.\nThe second home practice program was completed several months after completing the first home practice program. Several changes were implemented for the second program that aimed to improve upon the initial program and to accommodate specific feedback and requests made by the subject. The procedures followed those from the first program (see Supplementary Material B for the instructions given to the subject). Per subject request, the listening dosages were increased to 5, 10, and 15 min (see Figures 2E-H). These dosages resulted in a consistent total daily listening dosage of 35 min (compared to the varied daily dosages of 21-27 min in Experiment 1). The increased dosage was just above the 30-minute dosage used by Galvin et al. and was within the total time that the subject reported as feasible given her daily schedule and comfort with listening to music. The subject also expressed interest in listening to marimba, which she recently realized she enjoyed, and requested that this be included in the second home practice program. This request was accommodated by making marimba the control for the second program. The number of instruments in each recording also increased. Several other additions included guided listening questions, daily pre- and post-program questions about mood and self-confidence, and a weekly music enjoyment survey (see Supplementary Material C). The likeability scale and the guided listening questions used here aligned with what this subject was familiar with and had used in her clinical program prior to starting this study. The daily questions about mood and self-confidence and the weekly questions about music enjoyment were created by the research team based on feedback this subject provided after completing program 1. Since her previous feedback included some information about her mood and confidence, questions were generated specifically to gather this information following program 2. During the time she completed the second home practice program, the subject did not participate in any other aural rehabilitation.\nThe instruments included horns, woodwinds, strings, and marimba (control). A new list of recordings with YouTube links was provided. Most of the recordings were new, but some were also used in the first program.",
"gender": "Female"
}
] |
PMC11335732
|
[
{
"age": 19,
"case_id": "PMC10753632_01",
"case_text": "A 19-year-old male patient was presented to our clinic for progressive bilateral lower limb muscle weakness and gradual sensory loss over 7 years. He reported an early history of frequent ankle sprains and difficulty running, which progressed to clumsy walking and ultimately led to a persistent need for a walker for ambulation. His family history was negative for hereditary neuropathy, and he underwent no genetic testing. He was diagnosed with CMT1 at the age of 16 based on clinical and electrodiagnostic cues. Upon physical examination, he had symmetrical lower limb atrophy, more evident distally. His motor power was registered to be 2/5 in his lower extremities distally and 4/5 proximally. He also had decreased pain, vibration, and proprioception, in particular disturbances in position sense. Moreover, he presented absent patellar and Achilles tendon reflexes. He had an overall neuropathy limitations scale (ONLS) of 4/12 as he had no functional disability involving his arms, but required bilateral support to walk 10 m. Otherwise, he had normal mental status, cranial nerves examination, upper limbs motor power, and cutaneous plantar reflexes. His EMG was done at the age of 16 years. Surface recording electrodes were placed over the abductor pollicis brevis and extensor digitorum brevis to estimate the motor conduction velocities in the median and peroneal nerves respectively. The median motor nerves conduction velocities were markedly reduced, reaching 20.2 m/s for the left median nerve and 26.5 m/s for the right median nerve, with decreased amplitudes. The extensor digitorum brevis muscles were found to be completely denervated; indicating an absence of responses for the peroneal nerves bilaterally. The left tibial nerve conduction study showed no response, while the right tibial nerve conduction study revealed a severely reduced conduction velocity of 17 m/s. The compound muscle action potential (CMAP) shapes were simple, and no conduction blocks were noted. The sensory nerve conduction study showed an absence of responses for the sural and median nerves. The findings of his EMG were in favor of diffuse demyelinating involvement of the peripheral nervous system, in line with the clinical suspicion of CMT1.\nThe patient signed an informed consent after providing him with an explanation about the Regentime stem cell procedure. He was then prepared for bone marrow collection by administering a total of three granulocyte colony-stimulating factor doses. A bone marrow aspirate volume of 180 mL was collected (3 mL per Kg of body weight) and incubated at the stem cell laboratory. After 24 h of incubation, mononuclear stem cells underwent ultrafiltration, then re-incubation with the Regentime differentiation agent, an organ-specific proteinic ultrafiltrate. Progenitor cells were administered via two routes: intrathecally and intravenously. The patient was monitored for 2 days, during which he experienced neck stiffness of a moderate degree and reported mild headaches that were managed with paracetamol and non-steroidal anti-inflammatory drugs.\nThe patient was discharged on adenosine triphosphate, uridine, and cytidine monophosphate. Follow-up examinations were held monthly after transplantation. The patient's motor power and sensation were gradually improving. At the 10th month, he was able to walk unassisted, had normal vibration and position senses, and restored normal patellar and Achilles tendon reflexes. His ONLS was noted to drop to 0/12. He reported feeling stronger and being able to perform daily activities with ease.",
"gender": "Male"
}
] |
PMC10753632
|
[
{
"age": 43,
"case_id": "PMC10883689_01",
"case_text": "A 43-year-old female presented with a chief complaint of asthma-like symptoms at X-10 years. Chest computed tomography showed irregular stenosis in the left main bronchus and a raised lesion at the entrance of the left main bronchus on bronchoscopy. Bronchoscopic biopsy revealed TACC (cT4N0M0, stage IIIA). After chemoradiotherapy, the left main bronchial stenosis improved and progressed without recurrence. At X-6 years, the left main bronchial stenosis worsened owing to local recurrence. Concurrently, the patient received four cycles of the second-line carboplatin plus pemetrexed, one cycle of the third-line atezolizumab, three cycles of fourth-line eribulin, and fifth-line lenvatinib. In addition to chemotherapy, repeated argon-plasma coagulation (APC) and balloon dilatation (BD) were performed as interventional bronchoscopy for 69.3 months. The time from recurrence following the first-line treatment to death and OS were 70.7 and 112.5 months, respectively.",
"gender": "Female"
},
{
"age": 26,
"case_id": "PMC10883689_02",
"case_text": "A 26-year-old male presented with the chief complaint of cough. Chest computed tomography revealed a left bronchial mass, which was diagnosed as TACC (cT4N0M0, stage IIIA). Bronchoscopy showed that the tumor had almost completely obstructed the left main bronchus, and the patient received chemoradiotherapy. In May Y-5, recurrence occurred in the left hilar lymph node, and the left main bronchus stenosis worsened due to tumor growth. He received 29 cycles of the second-line pembrolizumab, four cycles of the third-line carboplatin plus pemetrexed, five cycles of the fourth-line pembrolizumab rechallenge, and one cycle of the fifth-line docetaxel. APC and BD were also performed for 15.4 months. The time from recurrence following the first-line treatment to death and OS were 66.3 and 104.4 months, respectively.",
"gender": "Male"
}
] |
PMC10883689
|
[
{
"age": null,
"case_id": "PMC10942816_01",
"case_text": "A primigravida mother gave birth to a healthy girl at term via spontaneous vaginal delivery. The baby weighed 4080 g at birth and had no perinatal complications. At her 2 -week well-child check, she was found to have lost approximately 30% of her birth weight and weighed 2800 g. Her parents reported that she was exclusively breastfed every 2 hours for approximately 10 minutes on each breast and had an average of 6 wet diapers per day. The baby was active at home with no signs of lethargy. Pregnancy was uneventful, and the mother had two normal morphologic ultrasounds with no reported history of oligohydramnios or polyhydramnios.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC10942816_02",
"case_text": "On examination, the baby was alert and active but with dry mucous membranes, cracked lips, and capillary refill more than 3 seconds. The skin was soft and doughy. Laboratory studies revealed the following: sodium 196 mEq/L; potassium 6.7 mEq/L; chloride 155 mEq/L; bicarbonate 15 mEq/L; urea 440 mg/dL; creatinine 4.08 mg/dL; phosphorus 7.8 mg/dL, and uric acid 19.9 mg/dL. A urine dipstick showed a specific gravity of 1.019, 2+ protein, and 2+ glucose. Urinary sodium 152 mEq/L, urinary potassium 25.4 mEq/L, urinary creatinine 34.1 mg/dL, urine osmolarity 736 mosmol/kg, and serum osmolarity 475 mosmol/kg. Liver enzymes and coagulation studies were normal. Renal and bladder ultrasound was normal. Electrocardiogram was normal.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC10942816_03",
"case_text": "The baby was subsequently admitted for parenteral rehydration and correction of her hypernatremia. The breast milk sodium content was found to be 90 mEq/L. Breastfeeding was stopped, and the baby's hypernatremia was slowly corrected with intravenous (IV) hydration until her sodium level, electrolytes, and renal function tests returned to normal. The infant showed excellent weight gain before discharge.",
"gender": "Female"
}
] |
PMC10942816
|
[
{
"age": 32,
"case_id": "PMC11250685_01",
"case_text": "A 32-year-old man presented with 2-month history of painless, progressive, bilateral, central vision loss worse at night (nyctalopia). Past medical history was significant for end-stage alcohol-related liver disease. The patient had gastric bypass surgery 12 years before the presentation but had poor compliance with his prescribed postoperative vitamin replacement regimen. His vitamin levels were not monitored routinely in the years preceding his presentation. He had a 10-year history of alcohol abuse (approximately eighteen drinks per day), and his alcohol intake further increased 4 years ago following his wife's death. His diet also changed after this grief event, and he ate two meals per day with a thirty-pound weight loss in the prior year. His family and ocular histories were noncontributory. He was not taking any medications.\nExternal examination revealed conjunctival jaundice and temporal muscle atrophy. His visual acuity was 20/70 in the right eye (OD) and 20/80 in the left eye (OS). He correctly identified only 5/14 Ishihara color plates with each eye. Automated visual field testing (Humphrey visual field [HVF] 24-2) revealed bilateral cecocentral scotomas (see Fig. 1). Slit-lamp examination revealed no abnormalities. His intraocular pressure measurements were 11 mm Hg OD and 10 mm Hg OS. Optical coherence tomography (OCT) showed thinning of the papillomacular bundle OU of the retinal nerve fiber layer (See Fig. 2). Fundoscopic examination confirmed temporal pallor of both optic discs.\nLaboratory testing showed low serum zinc (33 mug/dL; normal range [NR]: 60-120 mug/dL) and low serum copper (45.5 mug/dL; NR: 70-140 mug/dL). Vitamin C (8 mg/dL; NR: 23-114 mg/dL), vitamin D (11 pg/mL; NR: 18-72 pg/mL), and vitamin E (1.4 mug/mL; NR: 5.5-18 mug/mL) were also low. Serum vitamins B1, B2, B9 (folic acid), and B12 were normal. Serum vitamin A was undetectable. Liver function studies were elevated.\nAt follow-up exam 1 month later, after vitamin and mineral supplementation, all his vitamin and mineral levels had normalized. His visual acuity was 20/30 OD and 20/40 OS. He recognized 13/14 and 14/14 Ishihara color plates OD and OS, respectively. Repeat HVF 24-2 showed no significant residual visual defect (see Fig. 1). At 4-month follow-up, he had low zinc (42.6 mug/dL; NR: 60-120 mug/dL) and vitamin A (0.17 mug/dL; 15-60 mug/dL). However, he reported not refilling his supplements and poor compliance with the supplementation regimen. Nonetheless, he reported continued visual improvement and repeat HVF 24-2 showed no recurrent visual field defect (see Fig. 1). Written consent was obtained from the patient for publication of this case report and the accompanying image.",
"gender": "Male"
}
] |
PMC11250685
|
[
{
"age": 55,
"case_id": "PMC10853339_01",
"case_text": "A 55-year-old woman sought consultation for lower abdominal pain and distension with no noted triggers in June 2019. She had no remarkable past medical history or family history. B-ultrasonography and computed tomography (CT) indicated ovarian space occupation, and the tumor marker CA125 was found to be greater than 400 U/ml. The patient underwent ovarian radical surgical treatment on July 3, 2019. Histopathological and immunohistochemistry findings were suggestive of ovarian LCNEC (Stage IIIA) with positive expression for synaptophysin, CD56, and ki-67 ( Figure 1 ). She received six cycles of adjuvant albumin-bound paclitaxel plus carboplatin chemotherapy and was regularly reviewed after surgery. Unfortunately, a repeat CT scan performed in April 2021 revealed a pelvic mass, which was suggestive of tumor recurrence. Pelvic mass resection was subsequently performed in June 2021. The immune index test results were positive (PDL1 TPS>1%). After debulking surgery, the patient was treated with 3 sessions of albumin-paclitaxel combined with carboplatin chemotherapy and then switched to paclitaxel combined with pembrolizumab and bevacizumab due to platinum drug allergy. Immunotherapy was stopped because of the development of immune-related hepatitis. CT reexamination after 5 cycles of treatment showed disease progression. The patient started on etoposide and anlotinib tablets in January 2022. However, the growth of the tumor was not controlled. Then, the patient intended to undergo radiotherapy, but radiotherapy was stopped after the first dose of radiotherapy due to high side effects. This patient underwent multiple lines of therapy, and the disease continued to progress. Therefore, we performed further pathological examination, which indicated that the tumor was poorly differentiated carcinoma, and immunohistochemical results showed CgA(-), Syn(-), CD56(-), and her2(1+) ( Figure 2 ). Based on this result, the patient accepted T-DXd beginning in May 2022 ( Figure 3 ). A review after 2 cycles of treatment indicated that metastatic lymph nodes were significantly reduced, and blood examination of CA125 gradually decreased. She had significant pain relief during the time, and the curative effect evaluation at this time showed a partial response. Nevertheless, CT examination on 22 September 2022 revealed that the pelvic lesions were enlarged, and the disease progressed again ( Figure 4 ). The progression-free survival was 4 months with T-DXd. After this progression, she was screened for enrollment in a clinical trial in September 2022.",
"gender": "Female"
}
] |
PMC10853339
|
[
{
"age": 75,
"case_id": "PMC10505374_01",
"case_text": "A 75-year-old male, with diabetes mellitus (DM) with a hemoglobin A1C of 6.58%, dyslipidemia, and osteoporosis visited our dermatology clinic for the evaluation of an asymptomatic rash along the margins of both palms for 2 months. He denied any history of trauma, sun, or heat exposure. Dermatological examination revealed multiple erythematous papules and plaques with subtle scales on the margins of both palms (Figure 1). The clinical differential diagnosis includes granuloma annulare (GA), annular leukocytoclastic vasculitis, sarcoidosis, and secondary syphilis.\nA skin biopsy of the lesion on his right palm was done to confirm the diagnosis, which revealed nodular infiltration of lymphocytes, histiocytes, and multinucleated giant cells with elastophagocytosis (Figure 2A and B). Conspicuous degenerated and fragmented elastic fibers stained by Verhoeff-Van Gieson (VVG) were observed in the upper dermis, as opposed to diminished elastic fibers within the granulomatous area (Figure 2C and D). Alcian blue pH 2.5 showed negative staining correlated with the absence of mucin deposition. In addition, haphazardly arranged thickened collagen bundles, some perpendicular to the epidermis, were also observed. A significant improvement was observed after 1 month of treatment with 0.05% clobetasol propionate cream twice daily, and clinical remission was observed for 1 year after cessation.",
"gender": "Male"
},
{
"age": 68,
"case_id": "PMC10505374_02",
"case_text": "A 68-year-old male with dyslipidemia, pituitary adenoma, and benign prostatic hyperplasia (BPH) visited the dermatology clinic for an asymptomatic red-brown rash on his palms for 2 weeks. Dermatological examination revealed multiple erythematous to brownish papules and plaques on the margins of both palms (Figure 3). Histological examination and VVG staining showed findings similar to those in case 1, consisting of granulomatous inflammation, elastolysis, elastophagocytosis, and thickened degenerate collagen (Figure 4A-D). Mucin staining was negative with Alcian blue pH 2.5. Improvements in color and texture were observed after the application of topical 0.05% clobetasol propionate twice daily for 2 weeks, and clinical remission was observed for 11 months after cessation.",
"gender": "Male"
}
] |
PMC10505374
|
[
{
"age": 15,
"case_id": "PMC11320683_01",
"case_text": "A 15-year-old girl with history of chronic pancreatitis presented with an episode of acute exacerbation. During last 6-month period, she had multiple episodes of acute or chronic pancreatitis causing severe epigastric pain which required multiple hospital admissions.\nDuring the index admission, she developed high spiking fever and was found to have an infected walled off pancreatic necrosis using contrast enhanced computer tomography (CECT) and endoscopic ultrasound. Her C-reactive protein level was 600 mg/l. She was started on broad spectrum intravenous antibiotics. After a prolonged course of antibiotics of 14 days, her fever settled and the inflammatory markers came down.\nThree days after her fever was settled, she complained of loss of vision in her left eye. She denied any eye pain, floaters or flashes. The patient did not have a prior history of any visual pathology or a refractive error. Visual acuity of her left eye was 1/60 and the right eye had a normal visual acuity of 6/6. An urgent ophthalmology referral facilitated a fundoscopic examination with fundal photography, measurement of intra-ocular pressure and optical coherence tomography (OCT). The clinical and investigation findings were as shown in Table 1.\nFundal images showed blurred disc margins and macular oedema with exudates. Multiple haemorrhages were seen in the retinal nerve fibre layer dispersed with cotton wool spots in between, predominantly over the peripapillary and macular regions. Pathognomonic Purtscher flecken, which are well-demarcated areas of retinal whitening between the retinal vessels were also seen. Macular thickness as measured with OCT was more than 700 microm which confirmed the presence of macular oedema.\nAn urgent vitreoretinal opinion was obtained and diagnosis of PulR was confirmed. She was treated with urgent intravitreal Triamcinolone 1 mg and with intravitreal Bevacizumab 0.05 mg (anti-Vascular Endothelial Growth Factor) to the left eye as separate intravitreal injections given under topical anaesthesia approximately 48 h following noticing the loss of vision.\nOne week post-injection her left eye visual acuity had worsened to hand movements even though the fundal appearance and the OCT showed a slight improvement. Figure 2 shows the fundal photo after 1 week showing retinal haemorrhages and cotton wool spots. Purtscher flecken seen at the diagnosis were not seen. In post 1 week OCT (Figure 3), there was improvement in macular oedema with disrupted inner segment/outer segment (IS/OS) junction.\nHowever, by 3 weeks post-injection her left eye visual acuity improved slightly up to 2/60 with a clinically improved fundal appearance (Figure 4) showing improvement in retinal haemorrhages and cotton wool spots and with the OCT (Figure 5) showing settled macular oedema with poor prognostic features such as disrupted IS/OS junction and macular atrophy. Her right eye remained unaffected.\nVisual-evoked potentials (VEPs) of the left eye showed severe axonal loss.",
"gender": "Female"
}
] |
PMC11320683
|
[
{
"age": 61,
"case_id": "PMC10504499_01",
"case_text": "A 61 years old male, presented with a history of lump in the left side of the oral cavity for 1.5 years and diagnosed as OSCC. Patient is a known diabetic for 7 years on anti-glycaemic therapy with a combination of sulfonylurea, biguanide and alpha-glucosidase inhibitor. He is also a known hypertensive for 15 years on anti-hypertensive therapy with an angiotensin receptor blocker (telmisartan). Patient has no history of smoking/drinking alcohol but has a history of tobacco chewing for more than 20 years. Despite being informed of the presence of OSCC, and the possible treatment options and outcomes, the patient had refused standard oncological care (SOC) given his fears of the side effects associated with chemotherapy/radiotherapy and surgery. Instead, the patient resorted to siddha therapy and had come to our RMD specialities hospital which specializes in pain and palliative care services, with complaints of opening of the mouth, difficulty in swallowing, and pus discharge from the wound in the left cheek and foul odour in mouth.",
"gender": "Male"
}
] |
PMC10504499
|
[
{
"age": 39,
"case_id": "PMC10495749_01",
"case_text": "A 39 years-old Japanese woman with bipolar II disorder regularly visited our hospital. During her formative years, she resided alongside her parents and younger sister. However, she had no recollection of maternal affection from her childhood, which resulted in her loneliness and isolation. After she graduated from the university department of social welfare, she began working at a welfare institution and married a co-worker at the age of 27. At the age of 28, she gave birth to her first child. She was tired of housework and childcare and felt depressed. After returned to work, her depression worsened. She consulted a psychiatrist and was diagnosed with depression. Subsequently, she resigned from her employment, and her depression improved with antidepressants. When she was 33 years old, she exhibited a hypomanic state and was diagnosed with bipolar II disorder. Thereafter, she was hospitalized twice for depressive episodes. At the age of 36, she was transferred to our hospital, and her psychotropics changed. She was treated with 200 mg per day of lamotrigine, 40 mg per day of lurasidone, 50 mg per day of quetiapine, 2 mg per day of bromazepam, and 5 mg per day of zolpidem, and she was in a euthymic state. At the age of 37, her depressive symptoms worsened when her husband requested a divorce, although they improved with weekly supportive psychotherapy without psychotropic alterations. Eventually, her husband withdrew from the divorce. Although she was in a euthymic state for the next year and a half, her self-reported low self-esteem left her uncertain about how to navigate her future. The guidelines of International Society for Bipolar Disorders stated that adjunctive psychosocial interventions may be useful for in maintenance treatment to prevent relapse. The psychosocial interventions include psychoeducation, cognitive behavioral therapy, family-focused therapy, interpersonal and social-rhythm therapy, and peer support. She was in a euthymic state and under remission, grappling with profoundly existential problem regarding her life moving forward. We concurred with the proven efficacy of forementioned psychosocial interventions in the management of bipolar disorder, they remained insufficient in addressing the profound existential problem of life. Therefore, we recommend the introduction of an existential approach. In the existential approach, we performed a life scan which consisted of four sessions. In session 1 (S1), the patient recalled past successful (reasonable) experiences. In session 2 (S2), the patient recalled past miserable (unreasonable) experiences. In session 3 (S3), the patient thought about the purpose and meaning of life not attributed to common sense, but to her proper thoughts, accepting herself as she was and understanding that she was happy when she thought so. In session 4 (S4), the patient confirmed that an individual would live better in an uncertain future. In each session, she was prompted to perform a life scan of the session's theme and subsequently document her experiential content or thoughts. Thereafter, according to her note, a 30 min interview was conducted with a psychiatrist.\nBefore starting the existential approach, as she was in a euthymic state, the Hamilton rating scale for depression score was 6 points, the Beck depression inventory score was 13 points, and the Young mania rating scale score was 0. The scores on the parental bonding instrument (PBI), a brief self-report measure that relies on the participant's retrospective judgment of the quality of his or her relationship with each parent, were 13 points for paternal care, 24 points for paternal overprotection, 8 points for maternal care, and 17 points for maternal overprotection, revealing that she experienced remarkably poor maternal care. Her mental condition was assessed at baseline and after each session using the self-compassion scale (SCS) and the purpose in life test (PIL). Her quality of life was assessed at baseline and after the existential approach using the World Health Organization Quality of Life-26 (WHOQOL-26).\nS1: successful experiences, \"When I was a young child, I discovered the sheer delight of drawing; it brought me great joy to receive compliments from my friends for my artistic prowess. Drawing has become a daily comfort for me, as I have created new illustrations and shared them on social media. It is truly gratifying to receive likes and comments on my drawings. During my college years, I met impressive people. Even today, I am in contact with my friends. Previously, I approached my work sincerely. I had the pleasure of dating a colleague whom I respected greatly and eventually became hitched with. Presently, my greatest joy lies in watching my adorable children. Given my strained relationship with my mother, I am determined not to put my children through the same pain and suffering that I have experienced.\" The therapist commended her successful (reasonable) experience.\nS2: miserable experiences, \"I cannot remember my mother ever showing me any affection, and I do not have any recollection of seeing her smile while I was growing up. There were constant feelings of sadness and hopelessness. In my youth, I often felt lonely, but I accepted this as my reality. I was accepted into the psychology program at a university, but due to financial problems, I had to enroll in a social welfare program at a different university. To be honest, I really wanted to attend art school, but I never felt like I was allowed to do what I wanted to do in my life. After having a child, I pushed myself to do a better job of taking care of my child, but each day, it was a struggle. When I returned to work, I was overwhelmed by balancing work and caring for my child, leading me to push myself too hard. I felt that no matter what I did, I could not succeed and thus felt worthless. Eventually, I fell ill, took a leave of absence from work, and finally resigned. Two years ago, my husband suddenly filed for divorce, which completely blindsided me and turned my world upside down. Although the divorce was later annulled, relations between me and my husband have been strained ever since.\" Her patience and perseverance in miserable (unreasonable) experiences were respected by the therapist.\nS3: the purpose and meaning of life, \"I have been through a lot of hard times, but I think I have done well. Currently, I can view my life from a positive perspective. My children bring me joy and affection, which are unshakeable sentiments. However, I am afraid that my children will become the whole meaning of my existence. I look back on many things from my past and want to live more of my own life. I want to face my life properly. I like drawing. I have loved it since I was a child, and I really want to pursue higher education in the arts. I want to continue drawing on my life. From an early age, I have harbored a belief that \"happiness always ends\" and \"good things inevitably crumble.\" Despite the happiness I presently experience with my children in my daily life, I have always harbored the belief that my good fortune will eventually dissipate. However, upon reflection on my accomplishments, I have come to realize that positive outcomes are not always transient.\"\nS4: to live better in the uncertain future, \"I want to maintain my unwavering love for my children and ensure that they understand their significance to me. I aspire for them to have the freedom to grow and explore spontaneously without any inhibition or limitations. It is essential that I prioritize my own well-being and indulge in activities that bring me joy. I aspire to be compassionate and considerate towards both myself and others. I aspire to discover joy in the little things that comprise my everyday life, treat myself with compassion, and relish my experience of living to the fullest. Drawing serves as one of my preferred forms of self-expression, and I intend to pursue it throughout my life. In addition, I am interested in taking on work.\"\nThrough the existential approach, her self-reported low self-esteem improved, and she began to view her life positively. Figures 1A,B shows the time courses of the SCS and PIL scores. Her self-compassion and general sense of meaning and purpose improved. In addition, her quality of life, assessed by WHOQOL-26, increased, especially in terms of psychological factors (Figure 1C).\nAfter completing the existential approach, she was still in the euthymic state. A month later, she started new work as a cartoon illustrator, which she could do at home. Previously, she worked at a welfare institution, and this was her first time working on drawings. Reflecting on this new chapter in her life, she said, \"I was pleasantly surprised and overjoyed to have the opportunity for a job in my favorite field. I will do my best to do this job. However, I would like to continue drawing as a hobby.\"",
"gender": "Female"
}
] |
PMC10495749
|
[
{
"age": 32,
"case_id": "PMC10821662_01",
"case_text": "A 32-year-old pregnant woman (second child) was admitted to the Fourth Hospital of Shijiazhuang at 17+5 weeks' gestation with a 2-day fever and a temperature of 39.1 C. Ultrasonography revealed a gestational week of 18+6 and intrauterine fetal demise, and the patient was immediately admitted to the obstetrics department for hospitalization. Meanwhile, the blood and cervical secretions of the pregnant were collected for bacterial culture and identification. Subsequently, clinicians provided timely treatment based on the patient's clinical symptoms and clinical examination results.\nBacteriological culture showed blood plate growth of smooth, moist, grayish-white colonies with narrow beta hemolytic rings. The result of the test showed it is Gram positive and finally diagnosed with L. monocytogenes by VITEK2 Compact bacterial identification system (bioMerieux, Marcy-l'Etoile, France). We examined pathological sections of the placental tissue and preserved the L. monocytogenes isolate (SJZ_LM001) from the blood cultures of for further analysis.\nThe antibiotic susceptibility profile of the isolate SJZ_LM001 against ampicillin (AMP), penicillin, meropenem, trimethoprim-sulfamethoxazole, and erythromycin was performed by broth dilution method, according to the Clinical and Laboratory Standards Institute (CLSI) guidelines. Staphylococcus aureus ATCCTM29213 was used as a quality control in each batch of drug susceptibility testing.\nThe isolate SJZ_LM001 was collected and cultured at 37 C in brain heart infusion (BHI) broth. The DNA genome was extracted using Wizard Genomic DNA Purification Kit (Promega, United States) according to the manufacturer's instructions. WGS was performed on Illumina NovaSeq and Pacbio Sequel platform by Personalbio (Shanghai, China). The Pacbio reads were assembled. The PacBio sequence reads were assembled into a high-quality genome using HGAP, CANU, and corrected by Illumina MiSeq with pilon (v1.22). Then, the complete genome sequence of SJZ_LM001 was assembled. The annotation of the whole-genome sequence was performed using Prokka (v1.14.6.)\nThe Serogroup and MLST identification of the isolates was performed in silico on BIGSdb-Lm platform (https://bigsdb.pasteur.fr/listeria). The core SNPs were generated by a snippy pipeline with the reference genome EGD-e (NZ_CP023861.1). The minimum spanning tree of the isolates was constructed by Grapetree. The replicon genes of plasmid were determined by ABRicate (v1.0.1) with PlasmidFinder database, and the group plasmid was identified by the previous reported.\nAccording to the BIGSdb-Lm database, the BLASTN method was used to find genes encoding determinants for virulence, stress resistance, and antibiotic resistance with a minimum of 80% coverage and 80% identity.",
"gender": "Female"
}
] |
PMC10821662
|
[
{
"age": 53,
"case_id": "PMC10506871_01",
"case_text": "A 53-year-old heterosexual unmarried male construction worker weighing 75 kg presented to the emergency with an acute onset of bilateral lower limb weakness and difficulty in walking associated with the inability to pass urine for one day. The patient also reported having a vesicular rash over his head and external genitalia (Figure 1) along with a fever for two days following unprotected sexual intercourse. He was otherwise hemodynamically stable and oriented. He did not manifest any cranial nerve involvement, sensory symptoms, or any weakness in his upper limbs. Neurological examination revealed areflexia in the lower limbs, muscle power of 0-1/5, and down-going plantar reflexes. The patient was then referred to the urology department for catheterization, and cauda equina syndrome was ruled out. The patient underwent serological screening for varicella zoster, hepatitis B, hepatitis C, and HIV and meningitis/encephalitis multiplex PCR testing for other viral aetiologies including cytomegalovirus, respectively, all of which were negative. Due to the recent outbreak of MPXV, samples were also taken from the genital lesions for the monkeypox DNA PCR test which resulted positive. A computed tomography (CT) scan of the brain was done, which was unremarkable, and a lumbar puncture carried out resulted in elevated proteins of 106 mg/dl (15-45 mg/dl) and glucose of 58 mg/dl (40-76 mg/dl) in cerebrospinal fluid (CSF) including CSF cultures which showed no obvious pathogen including mycobacterium tuberculosis. Other labs such as urine culture, WBC, and basic biochemistry were normal except for creatine phosphokinase (CPK), which was 450 U/L (0-190 U/L). Thus, neurologists were consulted who advised magnetic resonance imaging (MRI) of the thoracolumbar spine which showed no signs of compressive myelopathy, but mild enhancement of a few cauda equina nerve roots was noted (Figure 2). Considering the acute bilateral limb weakness, with lumbar puncture results and positive DNA PCR results of monkeypox, a diagnosis of Guillain-Barre Syndrome (GBS) as a sequel to monkeypox infection was made.\nNeurologists further suggested IV immunoglobulins (IVIG) 0.4 g/kg as a treatment given along with close monitoring of the patient with serial arterial blood gas monitoring for any desaturation. The patient was kept on high-flow oxygen, maintaining a saturation of 94-95%, and was transferred to the neurology ward for further care. The vesicular rashes were managed by regular sterile dressings and antibiotics. On Day 2 of the hospital stay, the patient had a saturation drop to 90% and was complaining of weakness during mastication and neck weakness and thus was continued on high-flow oxygen and an IVIG course of 5 days. A nasogastric tube was inserted due to suspected bulbar weakness for enteral feeding. By day 7, the patient reported improvement in his lower limb weakness increasing to 3/5, oxygen saturation was stabilized at 97-98%; and gradually an improvement in his feeding habits was noticed with good oral intake. However, the patient complained of neuropathic pain in his lower limbs, for which gabapentin was prescribed, and was advised for further inpatient monitoring. Unfortunately, he refused due to financial reasons and was discharged in stable condition with the advice of a neurology follow-up.",
"gender": "Male"
}
] |
PMC10506871
|
[
{
"age": 25,
"case_id": "PMC10828748_01",
"case_text": "A 25-year-old female hypotensive patient came to the outpatient department with complaints of symmetrical weakness in the proximal muscle of both upper and lower limbs for five years with slow progression. She had difficulty ascending the staircase, jogging, rising from sitting on the floor, and extending her arms above her head. There is no history of twitching, limb discomfort, cranial nerve involvement, or sensory complaints, and no bladder or bowel involvement. There was a history of breathlessness when performing an activity. The patient had contracted COVID-19 in 2019 and a surgical history of appendicitis in 2017. There was no history of addictive substances or drug use. There were no abnormal findings in the birth history or delays in developmental milestones. According to her family history, her 40-year-old sister had been in a wheelchair for the past 20 years due to a similar limb weakness.\nClinical findings\nThe patient was afebrile on general examination, with a heart rate of 70 beats/min, a blood pressure of 110/70 mm Hg, and a respiratory rate of 13 breaths/min. Cardiorespiratory system evaluation was routine. Her inspiratory and expiratory ratios were 2:1. Cognitive function, speech, and cranial nerves were intact after a neurological test. Her sensory system was intact. She presented with weakness in both shoulders, wasting in both deltoids, pseudo-hypertrophy in both calves and normalized tone in all four limbs. Weakness was present in the fingers and wrist. Table 1 presents the results of manual muscle testing (MMT), which was a strength measure for the patient.\nGower's signs were positive; all deep tendon reflexes and superficial reflexes were intact, and the plantar responses were flexors bilateral. Her gait was waddling. The respiratory function was reduced and noticeable, and the gastrointestinal system and cardiovascular function were unremarkable. On respiratory examination, air entry was bilaterally reduced. On assessment, chest expansion at the level of the axillary, nipple, and xiphoid processes revealed differences of 2 cm, 2 cm, and 2 cm, respectively. The electrocardiogram, chest radiography, echocardiogram, and ultrasonography of the abdomen were all normal. Nerve conduction tests were normal. Muscular dystrophy was discovered through a muscle biopsy. Cost constraints prevented DNA analysis and genetic research. Electromyography of the upper and lower limbs revealed a myopathic pattern. Limb-girdle muscular dystrophy was diagnosed based on the history, proximal muscle weakness, grower's sign, elevated erythrocyte sedimentation rate, creatine kinase-myocardial binding, creatinine kinase, decreased creatinine (Table 2), and electromyography.\nInvestigation\nPhysiotherapy Intervention\nThe issues on the patient's list were intricate problems that called for decision-making and action. Fatigue, which can negatively impact a person's quality of life, was the main complaint of the patient. Loss of movement also had to be addressed because it makes it harder to carry out daily duties and keep muscles toned. Moreover, diminished muscle strength makes their physical limitations worse. The patient reported difficulty performing daily activities like combing and using the restroom, which may be related to dynamic balance issues, especially when sitting and standing.\nPhysical therapy's comprehensive and patient-focused goals were intended to deal with these issues. The patient was instructed on techniques to increase muscular strength, improve range of motion, and improve balance and gait. The therapy aimed to improve respiratory health and speed the return to normal activities. This all-encompassing strategy emphasizes the significance of addressing the specific issues and giving back the patient control over their physical health, thereby raising the general quality of life. The management program included physical therapy (Table 3), upper and lower limb mobility exercises with a half-kilogram of weight cuff quadriceps exercises (Figure 1), trunk extension (Figure 2), stretching of the hamstring and Achilles tendon (Figure 3), straight leg raises, and active movement for the lower limb (Figure 4).\nOutcome measures\nThe Berg balance scale (BBS), the multidimensional fatigue scale (MFS), the muscular dystrophy functional rating scale (MDFRS), and the patient-reported outcomes measurement information system (PROMIS-29) were used to evaluate techniques and scales. These scales and practices are critical for tracking the progression of muscular dystrophy, determining how the condition affects a patient's life, and deciding how to prioritize interventions and support services. Patient-rated outcome measures are mentioned (Table 4).\nFollow-up\nLimb-girdle muscular dystrophy is a progressive disorder. Thus, regular follow-up consultations with the physiotherapist are needed to determine changes in the patient's health and alter the treatment plan accordingly. After four weeks of therapy, the patient could do activities of daily living and needed to develop muscle strength, range of motion, balance, gait and postural stability, respiratory function, and functional training. Her motivation came from a combination of her own experiences, success, continued coaching, and dedication to overall wellness-which has a significant influence on their growth and well-being and willingness to participate in the suggested program.",
"gender": "Female"
}
] |
PMC10828748
|
[
{
"age": 45,
"case_id": "PMC10936884_01",
"case_text": "A 45-year-old lady presented to the surgical clinic with complaints of passing tarry black stools, fatigue and dizziness for 6 months. There was history of multiple blood transfusions for the same. There was no other history suggestive of any liver pathology, peptic ulcer, menorrhagia, or drug intake. Physical examination revealed significant pallor; abdominal examination showed a 5 cm long scar of previous lower segment Caesarean section.\nUpper GI endoscopy was done which revealed a large polypoidal lesion at the junction of D3 and D4 segments of the duodenum with central umbilication and superficial ulcerations associated with spontaneous intermittent oozing of blood with a provisional diagnosis of GIST. Biopsy was deferred in view of active bleed at the ulcer site. Positron Emission Tomography-COMPUTED TOMOGRAPHY (PET-CT) revealed a FlouroDeoxyGlucose-avid (FDG-avid), heterogeneously-enhancing, well-marginated, intraluminal polypoidal soft tissue density lesion at the junction of D3 and D4 segments of the duodenum, measuring 2.8 cm x 2.6 cm x 4.1 cm (transverse x anteroposterior x craniocaudal). The diagnosis was a likely primary mitotic lesion with no FDG-avid visible mitotic lesion elsewhere. The tumour was abutting the pancreas but had preserved fat planes with all surrounding structures and major vasculature spared [Figure 1].\nOwing to the localised nature of the mass and no evidence of any distant metastatic disease, the patient was prepared for surgical resection. The patient's nutrition and haemoglobin were built up pre-operatively and informed consent obtained. The abdomen was explored through a transverse \"rooftop\" incision. After excluding evidence of metastasis, the entire duodenum was exposed with generous Kocher's and Cattell-Braasch manoeuvres, exposing a single growth of 4 cm at the junction of D3 and D4 segments of the duodenum just below the uncinate process of the pancreas with no infiltration in the surrounding structures. A pancreas-preserving distal duodenectomy taking 3 cm of proximal margin and 15 cm of jejunum distally, in view of the preserved dissection planes with the large vessels. The ampulla was also well away from the transected D2 end. A retrocolic hand-sewn end-to-end duodenojejunostomy (extramucosal all-knots-outside interrupted with 4-0 polydioxanone) was performed to maintain bowel continuity [Figure 2]. The postoperative course was unremarkable; the patient was orally allowed on post operative day 5 and discharged on post operative day 8. On macroscopic examination, a nodular growth was identified measuring 4.1 cm x 3 cm x 2.4 cm about 2.5 cm from viable bowel margin. Cut-section revealed a solid homogenous grey-white mass reaching up to serosa with mucosal congestion. Histopathological examination confirmed the diagnosis of a GIST, mixed (predominantly spindle-cell type with low mitotic rate (<5/5 mm2) with both proximal and distal margin free of tumour cells [Figure 3]. Tumour cells stained strongly positive for discovered on gist-1 and focally positive for cluster of diffrentiation 117. There were no signs of metastasis in locoregional lymph nodes (single lymph node examined only). Tumour was classified as probable benign according to Miettinen classification and adjuvant therapy with tyrosine kinase inhibitor Imatinib 400 mg orally daily was started owing to tumour size of >3 cm. The patient has done well 6 months after follow-up. No complications were observed up to the time of case reporting.",
"gender": "Female"
}
] |
PMC10936884
|
[
{
"age": 2,
"case_id": "PMC10803183_01",
"case_text": "However, at 6 months postoperatively, a worsening of hydronephrosis was observed on ultrasound examination. Diuretic renogram showed a delayed arrival of the radiotracer on the left side compared with the right side, with a dilated middle and proximal third of the left ureter compatible with ureteral obstruction. Due to these findings, an elective resection of the stenotic left ureter (5 cm in length) with remodeling and ureteral reimplantation according to Cohen's technique was performed using the Pfannenstiel approach. A double J stent was placed. The patient was discharged the following day. Six months later, after verifying complete correction of the hydronephrosis by ultrasound, double J stent was removed without incident. Follow-up ultrasound of the renal tract after double J stent removal showed no dilatation of the upper renal tract and the renal function tests were normal. Currently, the patient is 2 years old and he remains asymptomatic. We obtained the approval of the institutional ethics committee and the hospital review board (PI-6410). Written informed consent was obtain from parents of the patient to publish this study.",
"gender": "Male"
}
] |
PMC10803183
|
[
{
"age": 65,
"case_id": "PMC10853719_01",
"case_text": "A 65-year-old woman was admitted to our emergency department with a one-week history of pain and edema in both legs. Approximately three months prior to admission, she reported significant weight loss (5 kg, equivalent to 8% of her total body weight), anorexia, constipation, and worsening joint pain. Her medical history included a ten-year follow-up in rheumatology for intermittent inflammatory axial and peripheral joint pain, unresponsive to painkillers or mesotherapy; she had been diagnosed with a presumptive diagnosis of osteoarthritis. In recent months, her primary care physician had ordered blood tests that showed anemia, attributed to anemia of chronic disease (Table 1). She denied experiencing abdominal pain, nausea, diarrhea, vomiting, fever, headache, or any neurological symptoms.\nUpon admission, physical examination revealed painless axillary lymph nodes, each measuring approximately 1 cm with elastic consistency, and bilateral non-pitting edema of the lower limbs. She did not exhibit hepatosplenomegaly or joint swellings, and the neurological examination was unremarkable.\nLaboratory tests showed normocytic normochromic anemia with hyperferritinemia and cytocholestasis with hypoalbuminemia, along with elevated inflammatory markers (Table 1). An Echo-Doppler ultrasound of the lower limbs confirmed the diagnosis of bilateral popliteal venous thrombosis (Figure 1). Investigations for prothrombotic conditions (antithrombin III, factor V Leiden, lupus anticoagulant, and anti-cardiolipin IgG and IgM) were conducted and yielded negative results.\nBased on these findings, treatment with enoxaparin at a dose of 1 mg/kg twice a day (BID) was initiated, and further investigations regarding a paraneoplastic syndrome were undertaken. An abdominal ultrasound revealed hepatic steatosis. The CT scan showed multiple lymph nodes in various groups: axillary, internal mammary, cardiophrenic, retroperitoneal, and mesenteric. Additionally, there was adenopathy in the hepatic hilum and fat densification near the hepatic hilum and the cephalic trunk, suggestive of a lymphoproliferative disease. An excisional axillary lymph node biopsy was performed, revealing granulomatous, non-necrotizing reactive lymphadenitis, likely of infectious origin. The presence of intrahistiocytic bacilli that reacted to periodic acid-Schiff staining raised the possibility of WD (Figure 2).\nTo confirm the diagnosis, an upper digestive endoscopy was performed. The macroscopic examination did not reveal any abnormalities, but the histological findings from duodenal biopsies and the isolation of T. whipplei by polymerase chain reaction (PCR) confirmed the presence of WD (as shown in Figure 3). Antibiotic treatment with ceftriaxone at a dose of 2g once a day was initiated for 15 days, followed by cotrimoxazole 800+160 mg twice a day for one year.\nOne year after the diagnosis, the patient is asymptomatic, with no joint pain, and she has regained her usual weight. Her blood tests are within normal limits (Table 1), and she underwent repeated intestinal biopsies that showed no abnormalities.",
"gender": "Female"
}
] |
PMC10853719
|
[
{
"age": null,
"case_id": "PMC11161066_01",
"case_text": "The Puxian region is characterized by mountains, rolling hills, intertwined valleys and gullies, vast fertile plains, and wide and long sea areas, forming a complex and diverse grid-like terrain. The traditional villages in the region are distributed in an uneven spatial pattern of \"There are many villages in coastal plain areas, but few in inland mountainous areas\" and \"one clump with multiple scattered points\".The distribution of traditional villages in Puxian is influenced by multiple factors, by analyzing the impact intensity of the factors, we found that intangible cultural heritage (0.5160) > protected cultural relic units (0.3591) > distance from railway (0.3255) > night light remote sensing (0.3179) > elevation (0.3012) > population density (0.2671) > slope (0.2032) > soil type (0.1804) > precipitation (0.1750) > temperature (0.1744) > land use (0.1492) > distance from river (0.0691) > distance from highway(0.0530). The interaction value between intangible cultural heritage and distance from the railway is the highest, followed by the interaction value between protected cultural relic units and distance from the railway. The interaction value between intangible cultural heritage and protected cultural relic units and other factors is not less than 0.38, among which the interaction value of intangible cultural heritage distance from the railway is the strongest, with a q-value of 0.79. The main reason is that the central part of Puxian is composed of low mountains and hills, with abundant water sources, intertwined plains and valleys, and rich soil quality, suitable for human habitation, production and reproduction, and cultural heritage. The southeast coast is surrounded by peninsulas and hilly terraces, surrounded by harbors, hills and terraces. Hanjiang District and Licheng District, where the villages are concentrated, are located in the estuary of the main stream of the Mulan River, as well as in the alluvial plain and marine plain. Hanjiang District and Licheng District have been sailing along the Silk Road and gathering merchants since ancient times. Licheng District was once part of Putian County, Xinghua Prefecture, and is one of the central urban and economic centers of Putian City. Hanjiang is a thousand-year-old city in Putian and one of the four important cities in Fujian. It is known as \"Scenery Little Wu Yue, Wealth Jia Zhangquan\", so it has gathered a large number of traditional villages with historical and cultural connotation. With the continuous improvement of the level of urbanization and modernization, the protection of the historical and cultural heritage of traditional villages has been continuously promoted, and the local economic conditions and the increasing ideology of residents have created conditions for the preservation of traditional cultural customs and production and lifestyle. While the western and northern regions are dominated by mountains, with low mountains, valleys and basins intermingled.The traffic development is relatively slow, and the social and economic development is self-sufficient, which is not easy to be affected by the outside world, and has certain advantages in protecting traditional villages; although the west and north are protected by mountains and forests to avoid outside interference, they are not suitable for production and life.\nThe planning of traditional villages should consider the spatial heterogeneity of different factors, identify the dominant factors affecting the development of each village through geodetectors, and formulate protection and development plans for different traditional villages, so as to improve the scientificity and adaptability of planning. For example, the traditional villages in Puxian area are strongly influenced by cultural factors. Intangible cultural heritage and protected cultural relics units have laid a cultural foundation for the rise and sustainable development of traditional villages. They reflect the diversity of Chinese culture in terms of architectural style, rural form and customs. In the future, we should avoid over-exploitation and safeguard the original cultural environment. In addition, conservation areas can be divided according to the degree of accumulation of Puxian traditional villages.\nTaking 137 traditional villages in Puxian area as the research object, this paper explores their spatial distribution characteristics and driving factors, and draws the following conclusions.\nPuxian traditional villages show an unbalanced spatial distribution pattern of \"There are many villages in coastal plain areas, but few in inland mountainous areas\" and \"one clump with multiple scattered points\". The junction of Licheng District and Hanjiang District is the area where villages are densely distributed.\nTraditional villages in Puxian are mainly influenced by various factors such as nature, space, society, and culture. They are more densely distributed in areas with strong cultural heritage, fertile land, flat terrain, suitable climate, proximity to water systems, developed transportation, underdeveloped economy, and dense population.\nThe regional cultural characteristics of Puxian are distinct, and the different spatial distribution influencing factors of traditional villages show corresponding correlations, reflecting the degree and effect of each driving factor on the spatial distribution of villages.The factor detection results of 137 traditional villages and 13 influence factors at the county scale show that, intangible cultural heritage (0.5160) > cultural relics protection unit (0.3591) > distance from railway (0.3255) > night light remote sensing (0.3179) > elevation (0.3012) > population density (0.2671) > slope (0.2032) > soil type (0.1804) > precipitation (0.1750) > temperature (0.1744) > land use (0.1492) > distance from river (0.0691) > distance from highway (0.0530). That is, the influence of cultural factors such as intangible cultural heritage and protected cultural relic units on the spatial distribution of traditional villages in Puxian area is greater than that of natural, spatial and social factors. Interaction detection showed that the explanatory power of interaction was enhanced. The interaction between intangible cultural heritage and distance from railways is the dominant factor in the spatial differentiation of traditional villages, followed by the interaction between cultural relics protection unit and distance from railways.Risk detection found that the differences of intangible cultural heritage sub regions were the most significant, and the factors with greater explanatory power for traditional villages also had significant differences in the number of villages in the sub regions. Ecological exploration found that there were significant differences in the impact of other factors on traditional villages, except that there were no significant differences between the distance from the railway and elevation and night light remote sensing, soil types and temperature and precipitation, elevation and night light remote sensing, temperature and precipitation.",
"gender": "Unknown"
}
] |
PMC11161066
|
[
{
"age": 18,
"case_id": "PMC11371222_01",
"case_text": "Table 1 shows the demographic characteristics of the participants. A total of 300 participants were recruited to participate in the study, all of whom were residents of different parts of mainland China. There was a balanced proportion of men and women among the participants, with men (n = 102) accounting for 45.7% and women (n = 121) accounting for 54.3%; the participants were all over 18 years old, and most of the participants were concentrated the younger age group of 18-45 years old (n = 152), which accounted for 68.2% of the participants; the participants' education level was concentrated in college, undergraduate and graduate students (n = 185), which accounted for 82.9%, the good educational background indicates that the participant group has a good cognitive ability of icon design.\nIn this study, the icons came from the COVID-19 pandemic precautionary measures posters or brochures released by 24 governmental agencies or official organizations, and a total of 160 icons were collected and compiled to represent 15 precautionary measures functions respectively. To be more representative and replicable, icons representing different design types, Image-related, Concept-related, Arbitrary, Semi-abstract, and Combined, were purposely selected for this study, excluding single textual and abbreviated types. In addition, textual descriptions were removed from the Combined icons when designing the questionnaire. Due to the high similarity of the icon design styles of some functions, we filtered and deleted these 160 icons, and finally retained 8 icons (120 in total) for each function for the ranking test, as shown in Fig 2.\nConsidering copyright issues, this study used A,B,C,D,E...letters represent the organization and institution from which an icon originated and including in-text citations to these sources:A (Guangzhou Health Commission, China); B (China Center for Disease Control and Prevention (CDC)); C(National Health Commission of the People's Republic of China); D (Office of the Foreign Affairs Working Committee of the Hunan Provincial Committee of the Communist Party of China, China); E (South Carolina Departments of Environmental Services (SCDES)); F (Centers for Disease Control and Prevention CDC, USA); G (Australian Commission on Safety and Quality in Health Care); H (Ohio State Department of Health); I (Pennsylvania Department of Health); J (Ministry of Healthand Family Welfare Government of India); K (www.MEDIUM.com); L (WHO Africa); M (Floridian State Government Department of Health); N (Asanti Africa Foundation); O (Thailand Convention and Exhibition Bureau); P (Government of Ireland Department of Health); Q (World Health Organizition); R (MDPI Article Fig 2. Preventive measures for the COVID-19 pandemic.); S (Japan National Tourism Organization); T (Tennessee Department of Health); U (Korea's Central Department of Epidemic Prevention and Countermeasures); V (Ministry of Public Health (MOPH), Qatar); W (www.MEDIUM.com); X (www.shutterstock.com).\nThe first phase of this study was the Appropriateness Ranking Test (ART), in which participants were tasked with ranking icons of the same function type according to the principle of relative appropriateness. The Ranking Test was conducted using the Questionnaire Star App,and the test data files in (S1 Table). The icons were coded as \"a, b, c, d, e, f, g, and h\". The icon size was 120 pixels by 120 pixels (4.2 cm by 4.2 cm). The average composite score for each icon is automatically calculated by the Questionnaire Star system, which reflects the overall ranking of the options, with higher scores indicating a higher overall ranking, as shown in Fig 2. The formula for calculating the score is as follows:\nAverage composite score = (Sigma frequency x weight) / number of times the question is filled in.\nIf three options are involved in the sorting, the first position in the ranking of the weight value is 3, the second position weight value is 2, and the third position weight value is 1. For example, a total of 12 times a question was filled out, Option A was selected and ranked in the first position 2 times, the second position 4 times, the third position 6 times, and the average composite score of Option A = (2 x 3 + 4 x 2 + 6 x 1) / 12 = 1.67 points.\nSubjective Rating Tests (SRT) are used in almost every aspect of ergonomics research and practice, are easy to administer, and are more scientific and sensitive than objective measurements. In addition, subjective rating tests are one of the most effective methods for assessing the comprehensibility of text and graphic symbols, which can systematically assess the impact of graphical symbol features on User Performance. In this study, three subjective design features for evaluating icons were summarized based on previous research: (1) communication effectiveness; (2) Visual Design Perception; and(3)Semantic distance. In this phase, participants were asked to rate the icons that ranked 1st in the previous phase of the ranking test based on the subjective design features. To compare the types of icon styles preferred by users, we classified the icons into two categories: (1) figurative icons, i.e., icons that contain specific characters, actions, and scenes, which are more concrete and vivid, and have a sense of familiarity; and (2) abstract icons, i.e., generalized and simplified icons, which are more concise and abstract. In this study, three groups of icons with the same functions, which can represent the above two styles were selected for testing to examine whether there are significant differences between these two groups of icons on the 12 semantic scales (S2 Table).\nThis study phase was conducted through the Questionnaire Star App and was rated using a 7-level semantic differential scale, as shown in Fig 1. Table 2 demonstrates the 12 sets of semantic vocabularies in the three subjective design features collected and organized from the relevant literature. The quantitative analysis of perceptual semantic vocabulary is realized through the Semantic Difference Method, which transforms multiple perceptual vocabulary variables into preferred composite variables, and ultimately, ambiguous and unknown perceptual demands that are difficult to analyze can be transformed into icon design elements. This approach was based on our research goal of assessing users' perceptions and preferences for each icon design feature and the strength of these feature aggregations. Participants evaluated each icon on a perceptual vocabulary semantic difference scale, and the closer to the left or right side of the semantic difference scale they chose, the more they perceived the icon to be a better fit for this perceptual vocabulary.\nSPSS 24 software was used to analyze the data in this study. The questionnaire survey combined with the semantic differential method to transform the data from users' perceptual evaluations of the sample icons, and the magnitude of the values intuitively indicated the degree of relationship between the sample icons and the design features. A one-sample t-test was performed on the 12 semantic scales to determine how they differed from the mean. Spearman correlation analysis was used to derive correlation (two-tailed) results for bipolar perceptual words. Examining the correlations between perceptual semantic words helps to understand the correlations between icon design features. Then, To compare whether users prefer anthropomorphic or images that contain a specific scene i.e. more figurative, Friedman's test (S3 Table) was used to determine the real differences between the 12 semantic scales, which can help scholars to design or select icons related to the COVID-19 prevention measures. In addition, factor analysis was used to downscale the icon design features to determine the perceived effects and subjective preferences of users on the perceptual semantic vocabulary of the sample icons, which can help government departments and designers refer to the icon design characteristics of Covid-19 prevention measures.",
"gender": "Female"
}
] |
PMC11371222
|
[
{
"age": 42,
"case_id": "PMC10985332_01",
"case_text": "We present a young 42-year-old man with a history of severe TBI at the age of 10, sustained from a fall off a playground slide, that resulted in a left acute subdural hematoma. This necessitated a craniotomy for clot evacuation, with no known use of cadaveric dural grafts. The patient enjoyed good health since and was working as a firefighter prior to admission. There was no family history of cerebrovascular or neurodegenerative diseases such as CAA or AD.\nFour decades later, he experienced a spontaneous headache with right upper limb focal seizures while swimming. On admission, he was fully conscious with no focal neurological deficit. A computed tomography (CT) and magnetic resonance imaging (MRI) scan revealed bilateral frontal lobar ICH with significant mass effect (Figure 2; Supplementary Figure S1). CT angiography and magnetic resonance venography did not reveal an underlying vascular lesion or dural venous sinus thrombosis. Investigations for blood coagulopathy, thrombophilia, and vasculitis markers were also unremarkable.\nThe patient experienced neurological deterioration soon after admission when the Glasgow Coma Score (GCS) dropped to 13/15 (E3V4M6) with anisocoria and left hemiplegia. A repeat scan showed expansion of the right frontal lobar ICH that required an emergency right decompressive craniectomy. Serial scans showed gradual resolution of the residual ICH, and the patient recovered full consciousness (Figure 2). Four weeks following the first surgery, the patient experienced a second episode of acute deterioration, with GCS dropping to 10/15 (E3V2M5) and right hemiplegia.\nA new contralateral left temporal lobar ICH was detected on CT, and a left decompressive craniectomy was performed. Intraoperatively, spontaneous rebleeding of the anterior temporal lobe and a frontal lobar ICH were observed that required further clot evacuation (Figures 3A-C). Histopathological examination of the resected brain tissue confirmed the diagnosis of CAA (Figures 3D-I). A targeted NGS panel of 11 genes associated with hereditary cerebral small vessel disease (APP, PSEN1, PSEN2, CST3, IMT2B, CBS, COL4A1, COL4A2, FOXC1, GLA, HTRA1, NOTCH3, and TREX1) did not show any pathogenic mutations. APOE genotyping revealed an e3/e4 genotype, but there was no clinical evidence of familial CAA. The patient remained comatose with a GCS of 7/15 and experienced recurrent episodes of lobar ICH at multiple sites. Taxifolin (100 mg per tablet; 300 mg BD) was prescribed 8 weeks after admission following the sixth episode of lobar ICH. The patient was successfully weaned off mechanical ventilation 6 months after starting taxifolin and attained a minimally conscious state. No further episodes of ICH have been noted since. No taxifolin-associated adverse effects were observed.\nThree 11C-PiB-PET scans were performed at 5-month intervals starting after 6 months of taxifolin administration after the patient was stabilized (Figure 4). Serial scans were arranged to quantify changes in Abeta deposition at 13 regions of interest by determining the cortical-to-cerebellum standardized uptake value ratio of 11C-PiB (SUVR):in particular, the second 11C-PiB-PET scan revealed a 24% decrease in global Abeta deposition compared to the index 11C-PiB-PET scan, whereas the third scan demonstrated a comparable 22% decrease compared to the index 11C-PiB-PET (Supplementary Table S1). In the first 6 to 10 months after taxifolin administration, a significant decrease in Abeta deposition was noted, as quantified by a 2-77% decrease in the SUVR across all the cortical regions of interest (Supplementary Table S1; Supplementary Figure S2). During this period, the patient experienced clinical improvement in terms of the ability to wean off mechanical ventilation and improved consciousness. He currently requires ongoing neurorehabilitation.",
"gender": "Male"
}
] |
PMC10985332
|
[
{
"age": 2,
"case_id": "PMC10874254_01",
"case_text": "A two-year-old girl, previously treated for Berry syndrome, was admitted to her local hospital after experiencing seizures characterized by bilateral tonic-clonic movements of the limbs, chewing motions, sialorrhea, and eye-rolling (Figure 1). The seizures were successfully resolved following the administration of 5 mg of rectal diazepam and 1.5 mg of intravenous midazolam. On recovery, a right hemiparesis was evident and her pupils were isocoric and reacted equally to light. The patient did not exhibit signs of respiratory distress, with SpO2 95% without supplemental oxygen. She was afebrile, with a heart rate of 120 bpm, and her blood pressure measured 101/40 mmHg. A holosystolic heart murmur graded IV/VI was evident, attributed to residual aortic coarctation. Blood tests indicated anemia with a hemoglobin level of 8.9 g/dl, a normal leukogram, and a slightly elevated protein C reactive level, while procalcitonin was negative. No relevant additional abnormalities were found. A brain CT scan was carried out, which showed a left-sided hemorrhagic stroke (Figure 2). She was started on levetiracetam 60 mg/kg and then transferred to a pediatric intensive care unit (PICU) of a tertiary hospital. On admission to the PICU, there was an improvement in her neurological state. She underwent an electroencephalogram, which showed diffuse cerebral alterations in the left hemisphere. During her stay, she became pyrexial and was empirically started on antibiotics, specifically ceftriaxone.\nAlthough the transthoracic echocardiogram (TTE) and transesophageal echocardiogram did not show any evidence of endocarditis, all her blood cultures (BCs) tested positive for Staphylococcus epidermidis. Based on the clinical presentation and clinical signs, she met the criteria for possible endocarditis (fever, CHD, vascular phenomena, and a BC positive for S. epidermidis). Due to suspicion of aortic endarteritis, she underwent a positron emission tomography (PET) scan (Figure 3). This examination revealed discrete 18FDG uptake adjacent to and internal to the aortic wall, confirming the diagnosis of aortic endarteritis. She completed six weeks of antibiotic therapy with vancomycin and a 21-day regimen of gentamicin.\nBefore hospital discharge, she had negative BC and underwent a brain MRI, which showed reabsorption of the hemorrhage. Additionally, evidence of cortical and subcortical microhemorrhages was observed, likely associated with embolic events. Due to significant clinical improvement and the absence of seizure events, the decision was made to discontinue anticonvulsant therapy.",
"gender": "Female"
}
] |
PMC10874254
|
[
{
"age": 93,
"case_id": "PMC11304483_01",
"case_text": "A total of 623 neck ultrasounds were performed on 615 adults. During the study period, there were 8 patients who were scanned twice, resulting in the 623 ultrasound studies from 615 individual patients. The cohort consisted of 349 (56.02%) female patients, and 274 (44.98%) male patients. The age range was from 18 to 93 years old, and a mean age of 46 years old at the time of ultrasound. Table 1 shows the number of ultrasound scans per age group.\nOn physical examination, 569 (91.33%) of patients had a single palpable lump, and the remaining 54 (8.67%) of patients had multiple palpable lumps. Of the 54 patients with multiple palpable lumps, 31 (57.41%) had multiple posterior neck lumps only, whilst 21 (38.89%) had both co-existing anterior and posterior neck lumps, and 2 (3.70%) had no physical lump found on sonography.\nOf the overall radiological diagnoses made from the 623 scans, 555 (89.09%) scans were benign, 63 (10.11%) scans had no lump found on sonography, and 3 (0.48%) scans showed malignancy. In the remaining 2 (0.32%) scans, the lump was deemed indeterminate.\nThe most common aetiologies for benign lumps were due to: normal lymph nodes (n = 263; 42.21%), lipomas (n = 152; 24.39%) and benign dermal cysts (n = 105; 16.85%). The full range of radiological diagnoses are listed in Table 2 below.",
"gender": "Female"
},
{
"age": 71,
"case_id": "PMC11304483_02",
"case_text": "All 3 patients with radiologically malignant posterior neck lumps were found to have pathologically enlarged hypoechoic masses and the eventual histological diagnoses of lymphoproliferative disease was made in these 3 cases. All of these 3 patients had bilateral multiple anterior and posterior palpable neck lumps co-existing. Two of these malignant cases were of chronic lymphocytic leukaemia/small cell lymphoma (CLL/SLL), and 1 case of mantle cell lymphoma. There were no cases of carcinoma or sarcoma found. The patients were at ages 56, 66, and 71 years old and were all male. The size of the posterior neck lumps in these patients were between 1 and 4 cm (Table 3).\nOf the 2 indeterminate scans, 1 patient was contacted 9 years after the initial scan and it was reported there was no change to the soft mobile lump, and therefore this lump was considered to be benign. The second patient with an indeterminate lump was contacted 2 years after the initial scan and the lump was no longer palpable to the patient and thus also presumed to be benign.\nThe 8 patients who had repeat ultrasound studies were all for the same initial presenting lump. The time interval between the first and second scans ranged between 3 months to 4 years. In each case, none had a change in the radiological diagnosis (1 cyst, 3 lipomas, and 4 benign-appearing lymph nodes) and none progressed to any malignancy.\nAll patients with single and/or multiple posterior neck lumps were found to have a benign radiological diagnosis. The size of the neck lump was measured as the longest sonographic dimension and ranged from 0 cm (no lump found sonographically) to 15 cm.\nThe 31 patients presenting with clinically palpable multiple posterior neck lumps all had benign radiological diagnoses, which included: 2 benign dermal cysts, 3 lipomas, and 26 multiple normal lymph nodes. Of the 21 patients presenting with clinically palpable co-existing multiple anterior and posterior neck lumps: 3 had malignant lesions as described above, and the remaining 18 all had sonographically normal lymph nodes.\nOne hundred and fifteen patients had a lump 3 cm or above, of which: 10 were benign cysts, 8 were fatty humps, 2 were malignant (lymphoproliferative), 1 was a cystic hygroma, 1 was an intramuscular haematoma, 1 was non-specific soft tissue thickening, and the remaining 92 were lipomas. None showed features of liposarcoma both at the time of the examination and on follow up.\nThere were 121 patients who had lumps between 1 and 3 cm. From these: 37 were benign cysts, 27 were benign lymph nodes, and the remaining 57 were benign lipomas or benign lesions. There were 307 patients who had lumps 1 cm or less: 1 patient had malignant lymphoproliferative aetiology, 236 were benign lymph nodes, 58 were cysts, and the remaining 12 had benign causes.",
"gender": "Male"
}
] |
PMC11304483
|
[
{
"age": 35,
"case_id": "PMC10830638_01",
"case_text": "A 35-year-old man had a 7-year history of discontinuous epigastric pain. He visited a local hospital and was diagnosed with hepatic echinococcosis by a B-ultrasound examination. The patient had taken Albendazole before he came to our hospital, but the symptoms had not decreased. Recently, the patient was referred to our hospital for further treatment with a distended abdomen, such that he could not eat normally except for a liquid diet.\nThe patient had no family history of cystic echinococcosis or other diseases, and no psychosocial history.\nHe was observed to have a significantly distended abdomen without abdominal wall varicosis. Epigastrium tenderness, drum sound produced by the whole abdominal percussion, unclear liver boundary, percussion pain in the hepatic region, and slowing bowel was observed upon physical examination.\nThe patient's blood sample was collected for coagulation function tests, complete blood count, liver and kidney function, and tumor marker detection; no obvious abnormalities were observed (Table 1).\nComputed tomography (CT) revealed multiple hydatid cysts in the liver, spleen, abdominal cavity, and pelvic cavity, and some cyst walls had localized calcification. The portal vein was significantly compressed, and the intrahepatic bile duct of the left lobe of the liver was dilated (Figures 1A-D).\nBased on the multi-disciplinary treatment (MDT) in consideration of the diagnosis, indications of the operation, the choice of the operation types, and surgical risks, the patient underwent endocystectomy of hepatic hydatid cysts, excision of abdominal hydatid cysts, partial pericystectomy of pelvic hydatid cysts, endocystectomy of pelvic hydatid cysts, lysis of intestinal adhesions on November 18, 2019. In addition, the patient had been taken Albendazole till the operation.\nAfter anesthesia took effect, the patient was placed in a supine position, routine disinfection was performed, and a \"J\" incision of about 40 cm was made in the upper abdomen. Several hydatid cysts of large sizes with smooth surfaces and oval shapes were found attached to the greater omentum and the liver. Abdominal hydatids were isolated and completely removed one by one to create space for the liver hydatid cyst removal. Several hydatids of different sizes were embedded in the liver and peritoneal wall of the right liver. Right liver atrophy and increased compensation of the left liver were observed. To free the adhesion, high-tension of the right lobe of the liver hydatids were opened and aspirated for decompression. Then the hydatid cyst fluid and endocysts were removed using the Negative Pressure Rotary Cutter (Supplementary Figure S1). The residual cavity was soaked in 20% sterile saline, and the pericystic wall and appendix were partially removed to find the biliary fistula orifices and carefully sutured with 5-0 proline. The same method was applied to the rest of the liver and spleen hydatid cysts. After this, it was applied to the abdominal and pelvic cysts. Complete resection was performed for those in whom it was feasible, and partial resection was performed others after decompression and immersion with 20% saline solution. Before completing the operation, part of the greater omentum was packed into the remnant cavity of the liver hydatid cysts. Negative pressure drainage tubes were placed on the right liver under the diaphragm, in front of the spleen, and the pelvic cavity. The abdomen was closed, and the patient was moved to the ICU for further observation.\nThe operation was successful and took more than 10 h, during which approximately 100 hydatid cysts were excised (Figure 2). The patient's postoperative weight was 20 kg less than before surgery. The postoperative CT scans are shown in Figures 1E-H.\nThe patient was given conventional postoperative treatment such as Piperacillin Sodium and Tazobactam Sodium infusion for anti-infection, NSAIDs and glucocorticoids infusion for improving inflammatory responses, Omeprazole infusion for preventing stress ulcers, and Compound Glycyrrhizin and Glutathione infusion for liver functional protection. However, there were still some postoperative problems, and corresponding management measures were as follows.\nThe patient developed shock symptoms after the operation, such as sustained hypotension and reduced effective circulating blood volume because of the large number of hydatid cysts in the abdominal and pelvic cavities being removed, which caused a sudden drop of intraperitoneal pressure, and massive loss of body fluid during operation and from the surgical surface. The shock symptoms gradually resolved after a series of anti-shock measures, including adequate fluids reinfusion, noradrenaline and glucocorticoids infusion.\nThe patient had a large amount of ascites after the operation, which was comprehensively considered transudate according to its appearance and biochemical test. Postoperative drainage continued for 28 days; the total drainage volume during the first 23 days was 17,785 mL, and the volume of drainage of ascites per day was fluctuant but progressively reduced overall during the first 23 days. Albumin and diuretics were used to correct hypoalbuminemia and reduce ascites, but ascites did not disappear. We attempted to clamp the abdominal drainage tube on the 24th day. As a result, it was found that the body could gradually absorb the ascites so that there was no fluid accumulation in the patient's abdominal cavity (Figure 3A).\nAt postoperative day 8, the right hepatic drainage tube volume gradually reduced. The B ultrasound showed that the drainage tube indwelled on the right liver wound had lost its function. However, perihepatic fluid was detected. Bile was found after a puncture, which indicated bile leakage had occurred. The original drainage tube was removed, and another negative pressure abdominal puncture drainage tube was placed on the liver surgical surface, the deepest part of the fluid. The bile leakage recovered after one week of treatment with negative pressure suction (Figure 3B).\nThe CT examination one month after intervention, showed no recurrence or re-occurrence of hydatid cysts in the abdominal and pelvic cavities. The patient recovered well in consideration of stable physical signs. Thus, the patient was discharged after the multidisciplinary discussion on December 31, 2019 and was advised to take albendazole for 3 ~ 6 months and have periodic examinations of liver and kidney function.\nThere has been no recurrence or re-occurrence of hydatid cysts, given that the patient had a periodic examination at the local hospital in March 2021 (Supplementary Figure S2). At follow up the patient stated that his quality of life had been significantly improved, mental and nutritional status has been well, as well as appetite, and physical capacity increased significantly. Besides, he could currently engage in general physical labor with his 15 kg weight gain compared to before. The latest reexamination was in August last year. Due to the limitations of the condition, he only underwent B-ultrasound examination, which indicated that there were no new hydatid cysts in the abdominal and pelvic cavity, and the remaining hydatid cyst cavity in the liver and spleen was stable, with no signs of recurrence.",
"gender": "Male"
}
] |
PMC10830638
|
[
{
"age": 26,
"case_id": "PMC11289818_01",
"case_text": "A 26-year-old homeless male, with no known medical history, presented to our institution with right arm weakness that started the morning of the presentation. This was associated with fever, night sweats, and unintentional weight loss. Two weeks prior to the presentation, the patient endorsed intermittent headaches which were relieved by ibuprofen. One week prior to the presentation, the patient stated his right arm started to feel weak. One day prior, the patient stated his weakness worsened and has issues walking. Per his mother, he had been displaying mild personality changes (more aggressive and moodier).\nHe developed waxing and waning mentation during his stay in the emergency department. Initial vitals were notable for a fever of 39.4 C and tachycardia with heart rate of 120 beats per minute. On physical examination, he was found to have flattening of the right nasolabial fold, stiff neck, and rotatory nystagmus when looking to the right. He could not lift his right arm and was found to have 1 out of 5 strength in his right deltoid and 4 out of 5 strength in his right biceps. A lumbar puncture was completed due to high-grade fever and revealed an opening pressure of 15 cm of water, with a white count of 320/mcL (red blood cell [RBC] 3, 10% neutrophils, 85% lymphocytes), glucose 51 mg/dL, and syphilis antibody qualitative returned positive. Empirical intravenous penicillin for the treatment of presumptive neurosyphilis was started. Shortly after his fluorescent treponemal antibody absorption (FTA-ABS) resulted positive, with rapid plasma regain (RPR) titer of 1:16, and venereal disease research laboratory (VDRL) titer of 1:1 in his cerebrospinal fluid (CSF). The following day, he was found to have continued right arm weakness and clonus bilaterally in the ankles with 3+ beats. On hospital day 3, the patient developed worsening mentation, hyperreflexia, status epilepticus, absent corneal and gag reflex, right rotatory nystagmus with respiratory failure, and was subsequently intubated. A repeat magnetic resonance imaging (MRI) brain on day 4 revealed rhombencephalitis with displayed increased FLAIR and T2 signals involving the lower brainstem at the level of cerebellar peduncles and upper cerebellum in symmetric fashion (Images 1 and 2). In addition, HIV antigen/antibody and quantitative polymerase chain reaction (PCR) resulted positive with viral load of 19 000/mL and CD4 count of 44 mcL. Empirical ampicillin for listeria and ganciclovir for cytomegalovirus (CMV) and herpes simplex virus (HSV) was started until CSF multiplex PCR was negative. Rifampin, isoniazid, pyrazinamide, and ethambutol were added empirically as well. After consideration of risk of immune reconstitution syndrome and benefit of antiretroviral therapy, he was initiated on tenofovir disoproxil fumarate, emtricitabine, and dolutegravir crushed into an orogastric tube. Furthermore, into his hospitalization, he developed intractable seizures requiring combinations of 5 antiepileptic medications. Cerebrospinal fluid and serum WNV IgM and IgG returned negative. At this point, antituberculosis medications were stopped. He completed 7 days of dexamethasone, 5 doses of IVIGs, and a 14-day intravenous (IV) Penicillin G treatment without meaningful improvement. Overall, patient was treated for HIV, syphilis, and WNV. A tracheostomy and percutaneous gastrostomy tube were placed on hospital day 18. Cerebrospinal fluid and serum WNV qualitative PCR returned positive on hospital day 20. Seizures abated on medications. After hospital day 30, the patient remained in a coma with minimal brain stem reflexes, and the patient was discharged to a long-term acute care facility. He subsequently passed away a few months later.",
"gender": "Male"
}
] |
PMC11289818
|
[
{
"age": 65,
"case_id": "PMC10860480_01",
"case_text": "This variation in service provision may be attributed to the superior financial support of the aged care system compared to the mental health system in Australia. Individuals with dementia receive government-subsidised support via the Aged Care System for both residential and community services. The Australian National Aged Care Classification (AN-ACC) provides a general aged care home subsidy for all aged care residents, and the Specialist Dementia Care Program (SDCP) caters to individuals with severe dementia symptoms. Community services are supported through the Home Care Package (HCP) and the Commonwealth Home Support Program (CHSP), as well as the National Disability Insurance Scheme (NDIS) for individuals under the age of 65. At the same time there is no specific governmental support for mental health issue for older people. Since the NDIS also supports mental health services for people less than65 years old the diversity of mental health services for people between 18 and 65 years old is better than that for mental health services for older people.\nIt is important to note that accessing dementia services in this study was considerably more challenging than accessing mental health services in the ACT. There was no direct contact with manager level staff available for other service providers, researchers, or policy makers. Compared to that for mental health services, response rates to our interview requests were lower. Forty two percent of aged care providers did not respond or were not available for an interview compared to less than 10% non-respondents in mental healthcare sector in the same study area. Non-respondent organisations have been coded based on the information publicly available on their websites considering the coding of similar services in the same local area.\nMoreover, organisations often failed to provide supplementary information, such as workforce capacity data, in response to our follow-up inquiries, with response rates lower than those from mental health service providers. Overall, service providers commonly offered website information alongside phone or email contact options for additional inquiries. However, they typically supplied a national number or email for all inquiries. This approach proved inconvenient for us and might not be user-friendly, especially for older individuals. National numbers posed challenges as respondents were often unfamiliar with local facilities. Emails, on the other hand, either garnered no response or, when received, lacked helpful information due to respondents' limited knowledge.\nAn effective approach to caring for individuals with chronic conditions must encompass both healthcare and social services. People living with dementia may have significant non-medical social needs that impact their health and quality of life, and these should be considered when developing individual management plans. However, the integration of social services into healthcare can be challenging due to the financial incentives that prioritise health-related services. As a result, there is little motivation for health systems to develop comprehensive care systems that incorporate social services. \nThis assessment of dementia care is unique and unprecedented, with no comparable data available worldwide, including Australia. Although there is a noticeable variation among services in the ACT, service providers have identified some shortcomings in the system. It is uncertain whether these issues are specific to ACT, are prevalent throughout Australia, or are common worldwide due to the nature of service provision in this field. This may become evident if other regions in Australia and worldwide undergo similar evaluations, potentially revealing a nationwide concern.\nOne of the notable strengths of this study is its use of a consistent and uniform depiction of the regional service delivery system, taking into account all aspects. Standardised descriptions of this nature are crucial in ensuring clarity, facilitating planning, resource allocation, and guiding future service delivery, as previously demonstrated in mental health care. It is important to note that this study solely focuses on the availability of care for individuals with dementia and does not address the entire aged care system. We have included only specialised services and general services that cater to clients with dementia or age-related cognitive challenges affecting at least 20% of their clientele. Our previous research on care provision for various conditions such as mental health, chronic care, Multiple Sclerosis, and disabilities indicates the importance of a separate analysis of specialised services and those general services that also cater to the target population. In the case of dementia, we have identified a significant proportion of general services with a substantial case load of people with dementia. This finding prompted us to include general services with over 50% and those with over 20% case load of dementia. The number of services falling into these categories highlights a major problem in the capacity of specialised care in this area. While general services with less than 20% of clients having dementia still contribute to the overall capacity for individuals living with dementia, it is crucial to note that, due to differences in the nature of services and the expertise of service team members, a separate evaluation for general services is warranted.\nThe current study has certain limitations. Firstly, the evaluation was restricted to specialised and general services that have a significant number of clients with cognitive impairments. The categorisation of services into specialised and general was based on their focus on individuals with dementia or on older adults, but the study lacks information on the level of workforce training in each group, as well as workforce details. Additionally, it is important to acknowledge that dementia is just one of several conditions that aged care services cater to. As a result, there may be competition for limited resources, but implementing tools like the DESDE-LTC can inform a fair allocation of resources. The DESDE-LTC was initially validated for chronic care coding in 6 Western and Eastern European countries and outperforms other global service assessment tools in terms of validation extent and psychometric depth. Extending its validation to other parts of the world would be advantageous. The study's methodology is replicable, allowing for follow-up assessments over time to track the impact of plans and changes, such as the introduction of new services, particularly in tandem with evaluations of health-related quality of life and satisfaction with care provided to individuals with dementia.\nAs this study was the first to employ the DESDE method in evaluating the dementia care system, it introduced a novel experience. Among the most challenging aspects was accessing managers of organisations and arranging interviews, especially with residential facilities. Given that a substantial portion of dementia care is subsidised by local and national governments, many organisations had already reached their capacity. Consequently, they might have lacked the motivation to respond to or request interviews. This contrasted with our previous studies on mental health care, where organisations showed more enthusiasm, foreseeing potential benefits in terms of publicity.\nAdditionally, identification of the services was another challenge because most of the services were not available in national and local directories. This issue was also less problematic in other fields. Last but not least, the entire system designed for aged care, and indeed for people with dementia, needed to be utilised. Therefore, the number of services specifically designed for people with dementia was limited, and we had to include those with a high rate of clients with dementia, an issue which is not the case in mental health services.",
"gender": "Unknown"
}
] |
PMC10860480
|
[
{
"age": 78,
"case_id": "PMC10626281_01",
"case_text": "The patient was a 78-year-old man with a 30-pack-year smoking history. Figure 1 shows the time course of serum concentration of creatinine and his treatment history. He underwent right lower lobe segmentectomy for NSCLC with EGFR mutation (deletion mutation in exon 19) at our department in 2017. Positron emission tomography performed 2 years after the operation showed the uptake of 18F-fluorodeoxyglucose into the right pleura, and it was diagnosed as pleural dissemination. Hemodialysis was started three times a week because chronic renal failure worsened during the administration of gefitinib (250 mg every other day). One and half years after the start of gefitinib, a growing nodule was found in the stump of the right lung resection by computed tomography (CT), and this nodule was judged to be resistant to gefitinib. Next, afatinib (20 mg daily) was administered, but it was judged that the disease had progressed based on CT performed 3 months later. At this time, a plasma EGFR gene mutation test revealed a T790M point mutation, so the daily administration of osimertinib (80 mg [560 mg/week]) was started. He weighed 57.1 kg before starting osimertinib. He took osimertinib after HD on and at the same time as hemodialysis days on non-hemodialysis days. The plasma concentrations of osimertinib were measured at 1 day, 1 week, and 3 weeks after its initiation, and then every 4 weeks thereafter. Blood sampling for the measurement was performed before the administration of osimertinib on non-hemodialysis days. Hemodialysis was performed using a polysulfone membrane (MFX17M eco, Nipro, Osaka, Japan). The plasma concentrations of osimertinib were measured using a liquid chromatograph-tandem mass spectrometer (LC-MS/MS) system (AB SCIEX 3200 QTRAP LC-MS/MS; SCIEX, Tokyo, Japan, and LC-20; Shimadzu, Kyoto, Japan). Before osimertinib treatment, CT showed a 22-mm nodule in the right upper lobe (Fig. 2a). At 8 weeks after starting osimertinib, the lesions disappeared on CT (Fig. 2b), and no regrowth was observed after 15 months (Fig. 2c). However, the plasma concentration of osimertinib increased and reached 1,522.9 nM 20 weeks after the start of osimertinib. At that time, he was complaining of severe fatigue. At 8 weeks after the dosage of osimertinib was reduced to three times a week (240 mg/week), the plasma concentration decreased to 560.8 nM; thus, the dosage was increased to four times a week (320 mg/week). At this point, his complaints of fatigue had disappeared. However, plasma concentrations of osimertinib gradually decreased even after increasing dosage. Nine months after starting reduction of dosage, the plasma concentration decreased to 397.2 nM. The dosage was increased stepwise to 6 times a week (480 mg/week) because there was concern that the antitumor effect might be weakened due to a decrease in the plasma concentration (Fig. 3). The therapeutic effect was maintained for more than 1 year with no symptoms.",
"gender": "Male"
}
] |
PMC10626281
|
[
{
"age": 26,
"case_id": "PMC10775742_01",
"case_text": "A 26-year-old man of Han nationality presented to our hospital with a 10-day history of diplopia and bilateral ptosis. He reported bilateral diplopia and slight dizziness. He had no prodromal symptoms, such as headache, nausea, and fever. He denied any medical history or potentially relevant history of infection, including TB. Physical examination revealed normal temperature and blood pressure. The patient's systemic findings were generally unremarkable. His visual acuity was normal. He exhibited incomplete bilateral ptosis, which was not related to fatigue. Examination of extraocular movements revealed slightly medial rectus palsy in the right eye; during leftward gaze, the patient displayed bilateral, symmetrical, low-amplitude, and low-frequency horizontal nystagmus. Pupillary sizes, shapes, and light reflexes were normal. The patient had normal muscle strength in the upper and lower extremities, without pyramidal signs or sensory disturbances. His reflexes and coordination were normal, and no other neurological abnormalities were noted. The neostigmine test results were negative.\nIn terms of laboratory findings, complete blood count revealed generally normal findings (red blood cells, 5.23 x 1012/L; white blood cells, 6.22 x 109/L; neutrophilic granulocytes, 47.5%; lymphocytes, 41.2%; and hemoglobin, 163.6 g/L). Blood glucose, renal function, and liver function results were normal. The erythrocyte sedimentation rate was slightly elevated (20 mm/hour). Analyses of the following serum markers for autoimmune and connective tissue diseases revealed negative results: antinuclear antibody (ANA), anti-dsDNA, anti-nucleosome, anti-phospholipid antibody (APLA), anti-histone, anti-Sm, anti-SS-A, anti-Ro, anti-Scl-70, anti Rib-P-protein, anti-JO, and anti-SS-B. Immunoglobulins IgG, IgA, and IgM were normal; complement C3 and C4 were also normal. Serology findings regarding hepatitis B virus, hepatitis C virus, and human immunodeficiency virus were unremarkable. The patient's intracranial pressure was normal (125 mmH2O).\nCSF examinations revealed normal findings (protein, 0.32 g/L; white blood cells, 0; glucose, 4.4 mmol/L; and chloride, 123.3 mmol/L). Antibodies to the following neuromuscular receptors were absent from serum and CSF: acetylcholine receptor (AChR), Musk, Titin, low-density lipoprotein receptor-related protein 4 (LRP4), ryanodine receptor (RyR), and voltage-gated calcium channels (VGCCs). Moreover, antibodies to aquaporin-4, myelin oligodendrocyte glycoprotein (MOG), and myelin basic protein (MBP) were absent from serum and CSF; no OBs were detected. There were no autoimmune encephalitis-associated antibodies, including antibodies to N-methyl-D-aspartate receptor (NMDA-R), contactin-associated protein-like 2 (CASPR2), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPA-R), gamma-aminobutyric acid B receptor (GABAB-R), and glutamic acid decarboxylase 65-kilodalton isoform (GAD65). There were no anti-ganglioside antibodies, such as antibodies to the gangliosides GM1, GQ1B, and GB1B. The findings for thyroid-associated antibodies (e.g., thyroglobulin antibody [TGAb], thyroid peroxidase antibody [TPOAb], and thyroid-stimulating hormone receptor antibody [TRAb]) were normal.\nBlood and CSF culture results were negative. Serologic tests for tubercular bacillus, rubella, Epstein-Barr virus, Lyme disease, and Brucella revealed negative results. The skin tuberculin sensitivity test result was positive. Polymerase chain reaction (PCR) analysis of three consecutive sputum samples revealed positive TB findings. PCR revealed TB in CSF, but it did not show evidence of herpes simplex virus. Acid-fast bacillus staining and a Brucella agglutination test using CSF samples both showed negative results.\nBrain MRI performed 7 days after disease onset revealed a bright lesion in the interpeduncular fossa on T2-weighted-fluid-attenuated inversion recovery (T2-FLAIR) and diffusion-weighted imaging (DWI) (Figure 1). Magnetic resonance angiography showed no clinically significant abnormalities in the intracranial blood vessels. Ultrasound examination of the thyroid demonstrated normal findings. Pulmonary computed tomography also revealed normal findings.\nPhysical examination revealed bilateral ptosis and right medial rectus paralysis, which indicated bilateral incomplete extraocular muscle palsy. The presence of the lesion in the ventromedial region of the midbrain explained the clinical manifestations of third cranial nerve palsy. Considering the site of the lesion, pathological examination could not be performed. Systemic workup indicated intracranial TB infection, but there was no evidence to support a diagnosis of other autoimmune diseases (e.g., myasthenia gravis or MS). Laboratory investigations revealed intracranial TB infection, although the patient had no symptoms of pulmonary TB or tuberculous poisoning. Thus, the patient was diagnosed with ophthalmoplegia, intracranial TB infection, and a focal lesion in the interpeduncular fossa (suspected to result from local inflammation or immunological abnormalities). After obtaining informed consent from the patient, we cautiously administered dexamethasone at a dose of 10 mg/day for 7 days, along with oral antitubercular medication. The patient exhibited adequate recovery after the initial hospitalization.\nOver the next 3 years, the patient consistently attended follow-up visits. He did not have any symptoms or neurological signs at the 16-month follow-up. MRI performed at the 16-month follow-up revealed lesion enhancement in the interpeduncular fossa on T2-FLAIR, as well as new lesions (without significant enhancement) around the anterior and posterior horns of the lateral ventricles (Figure 2). The patient was re-admitted and underwent repeat lumbar puncture to allow screening for infection-related and immunological etiologies. Serum and CSF examinations showed no indication of antibodies to aquaporin-4 or MOG. Similar to the findings on initial admission, PCR revealed TB in CSF. Furthermore, OBs were detected in CSF (16 months after initial symptom onset). Considering these findings, including the presence of new lesions on MRI, the patient was diagnosed with MS based on the 2017 revised McDonald criteria. However, the patient refused long-term disease-modifying therapy for various reasons, such as his previous diagnosis of intracranial TB, as well as his socioeconomic situation. At the most recent follow-up (3 years after initial onset), the patient's overall status was good. However, MRI revealed new lesions (without significant enhancement) in the white matter of the left temporal lobe (Figure 3), further supporting the diagnosis of MS. The patient has since accepted disease-modifying treatment with siponimod (Novartis); the effects will be closely monitored during subsequent follow-up.",
"gender": "Male"
}
] |
PMC10775742
|
[
{
"age": 74,
"case_id": "PMC11095166_01",
"case_text": "A 74-year-old female with a history of sigmoid diverticulitis 9 months prior, history of C. difficile colitis, gastroesophageal reflux disease, hypertension, coronary artery disease, and a surgical history of bariatric surgery, hernia repair, hysterectomy and appendectomy, presented to the emergency department for progressive epigastric, right upper quadrant (RUQ), and left upper quadrant (LUQ), abdominal pain for 1 day. The pain was described as a discomfort that did not radiate to the back, shoulders, or jaw and was not related to meals. She reported nausea, and recent loose stools which had resolved. She denied fever, chills, emesis, hematemesis, hematochezia, melena, dysuria, sick contacts, international travel, and changes to her diet. She did not smoke or drink alcohol.\nShe was afebrile (36.5 C), with a normal heart rate (65 bpm), but was hypertensive (159/71 mm Hg), mildly tachypneic (20 breaths/min) and with an oxygen saturation of 98%. On physical exam, she was not jaundiced and did not have scleral icterus. There was pain on palpation of the epigastrium, as well as the RUQ and LUQ on abdominal exam. There was no pain in the left lower quadrant. The abdomen was soft and non-distended without any peritoneal signs.\nLabs revealed a mild leukocytosis with a white blood cell (WBC) count of 10.1 x 109/L. Aspartate aminotransferase (AST) and alkaline phosphatase (ALKP) were slightly elevated at 67 and 144 U/L, respectively. Alanine aminotransferase (ALT) and total bilirubin (0.4 mg/dL) were normal. Urine analysis showed significant pyuria (> 100 WBC/high power field) and urine culture grew Escherichia coli and multidrug resistant Klebsiella aerogenes. Electrocardiogram (EKG) showed normal sinus rhythm and suggestions of left ventricular hypertrophy which was unchanged from previous. Computed tomography (CT) of the abdomen and pelvis was suggestive of mild/early acute on chronic sigmoid diverticulitis complicated by colovesical fistula. In addition, findings were suggestive of diverticulitis of a periampullary duodenal diverticulum with new mild dilation of the biliary tree which was to represent Lemmel syndrome (Figure 1).\nShe was started on intravenous antibiotics and remained hemodynamically stable. Colorectal surgery was consulted regarding the colovesical fistula and recommended outpatient follow-up for further management. She was discharged on an oral antibiotic regimen for periampullary duodenal and colonic diverticulitis, which also covered the urinary pathogens. Repeat CT of the abdomen and pelvis approximately 2 weeks after discharge showed colonic diverticulosis and a periampullary duodenal diverticulum without evidence of diverticulitis. At this time, the abnormal AST and ALKP had also normalized.",
"gender": "Female"
}
] |
PMC11095166
|
[
{
"age": 22,
"case_id": "PMC10763243_01",
"case_text": "A 22-year-old woman presented with the chief complaint of an anterior open bite. Intraoral findings revealed a -3.0-mm overbite, -0.5-mm overjet, and a Class III molar relationship. Cephalometric analysis revealed that the mandibular incisor had a protrusion, the maxillary incisor had a buccal inclination, and the mandibular incisor had a lingual inclination (Figure 1). There was no evidence of major medical, family, or psychosocial history. Preoperative orthodontic treatment was performed by extracting the bilateral upper first premolars. Sagittal split ramus osteotomy was subsequently performed at the age of 26 years to achieve a skeletal relationship and occlusion. Surgical orthodontic treatment was completed at the age of 29 years and transitioned to a retention period. The occlusion was stable for 3 years after surgery. However, she was diagnosed with schizophrenia at 34 years of age. The patient was administered haloperidol (5 mg/day), olanzapine (5 mg/day), or fluvoxamine (100 mg/day). Ten years after the start of the retention period, the patient returned to our department complaining of an anterior open bite (overbite: -4 mm) at 40 years of age. After consultation with her psychiatrist, her prescription was changed to aripiprazole (12 mg/day), Olanzapine (2.5 mg/day), and fluvoxamine (50 mg/day). We also informed her to use a retainer with a tongue crib to reduce the effect of tongue thrust. Her medication was decreased to aripiprazole (9 mg/day) and fluvoxamine (50 mg/day) at 41 years of age, and was again reduced to aripiprazole (3 mg/day) and fluvoxamine (50 mg/day) at 43 years of age. At 44 years of age, the dosage was decreased to aripiprazole (3 mg/day) and fluvoxamine (50 mg/day). At 47 years of age, there was a decrease in the open bite, and at 50 years of age, there was a further decrease and improvement in the open bite (Table 1). The patient's open-bite gradually improved (Figures 2, 3). The patient reported that the use of the device made her feel mentally reassured. Currently, there have been no cases of dental relapse in this patient, and no adverse psychological effects have been observed during treatment.\nFor ethical considerations, we have written the report in such a way that the patient cannot be identified, and written consent was obtained from the patient for the publication of this report. This case report is based on the information obtained from the patient herself, as detailed information could not be obtained from her psychiatrist because of privacy concerns.",
"gender": "Female"
}
] |
PMC10763243
|
[
{
"age": null,
"case_id": "PMC11308532_01",
"case_text": "These patient cases are fictional and do not represent events or a response from an actual patient. The authors developed these fictional cases for educational purposes only.",
"gender": "Unknown"
}
] |
PMC11308532
|
[
{
"age": 62,
"case_id": "PMC11381230_01",
"case_text": "A 62-year-old postmenopausal woman was admitted to our hospital in March 2015 with a complaint of vaginal discharge for over a year. Pelvic ultrasound revealed fluid in the uterine cavity, and the level of squamous carcinoma-associated antigen (SCC) was elevated to 8.3 ng/mL, which is higher than the normal range of 0.00-1.5 ng/mL. HPV DNA testing was positive for high-risk types 16, 42, and 83. Subsequently, a preoperative hysteroscopy with curettage was performed, and no cervical lesions were identified. The endometrial curetting showed squamous cell carcinoma. Then, the patient underwent radical hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymph node dissection. During the surgery, a greyish-yellow nodule of about 0.5 cm was found adjacent to the abdominal aorta, and frozen section examination revealed metastatic squamous cell carcinoma.\nOn gross examination, the endometrium displayed thickening with an ichthyosis-like appearance and deep invasion (near the plasma layer). Sampling of all cervical tubes did not reveal any intraepithelial lesions. Microscopically, the endometrial mass showed typical non-keratinizing squamous cell carcinoma with tumor cells distributed in nests resembling high-grade intraepithelial lesions involving glands ( Figure 1A ) and some areas appeared basal cell carcinoma-like with central necrosis ( Figure 1B ). Lymphovascular invasion was seen in the mesenchyme. A total of 15 lymph nodes were palpated in the pelvic lymph nodes, and a single metastasis was identified in the left obturator lymph node. Immunohistochemically, the tumor cells were diffusely positive for P63/P40/CK5/6 and P16 ( Figure 1C ), wild-type P53 ( Figure 1D ); negative for ER/PR/Pax8 ( Figure 1E ); and Ki67 index of about 90%. After the surgery, the patient received platinum-based chemotherapy and was followed regularly. At postoperative 36 months, lung metastasis was detected and surgically resected at another hospital, telephone follow-up revealed that the patient had not undergone any additional postoperative treatment. The patient is currently being followed up for 110 months with regular follow-up appointments but has not shown any evidence of disease recurrence to date.",
"gender": "Female"
},
{
"age": 57,
"case_id": "PMC11381230_02",
"case_text": "A 57-year-old postmenopausal woman was referred to our hospital in March 2023 for a complaint of vaginal discharge for 1 month. She had a history of oral exemestane therapy for breast cancer for 5 years. Pelvic magnetic resonance imaging (MRI) suggested a mass in the uterine cavity measuring approximately 35x42x63 mm. The serum squamous cell carcinoma-associated antigen (SCC) level was elevated to 10.23ng/mL, while CA125, CA199, and CEA values were within the normal range. HPV E6/E7 mRNA detection was negative for high-risk human papillomavirus.\nCurettage of the endometrium and endocervix revealed keratinized squamous cells with moderate anisotropy. The patient then underwent radical hysterectomy, bilateral salpingo-oophorectomy, pelvic lymph node, and para-abdominal aortic lymph node dissection. Macroscopically, a bulging mass measuring 40x35x25 mm involved primarily the endometrium( Figure 2A ), with tumor invasion into the deeper half of the myometrium and lymphovascular space.\nMicroscopically, the tumor cells showed typical morphological features of keratinized squamous cell carcinoma with abundant eosinophilic cytoplasm and keratin pearls ( Figure 2B ), and the cervix was free of disease. A total of 18 lymph nodes were palpated in the pelvic lymph nodes and a single metastasis was identified. Immunohistochemical analysis demonstrated strong positive staining for P63/P40/CK5/6, negative staining for P16/PR, focal positive staining for ER, nearly 100% strong positive staining for P53, and Ki-67 index of about 50% ( Figures 2C-E ).\nThe patient received chemotherapy with paclitaxel and carboplatin after surgery and has been free of disease for 16 months.",
"gender": "Female"
}
] |
PMC11381230
|
[
{
"age": 47,
"case_id": "PMC11043528_01",
"case_text": "A 47-year-old female patient presented to the outpatient clinic with blue-black linear marks on the upper eyelid (Figure 1A). She had a blepharoplasty surgery 6 months prior. Two weeks after surgery, she found a blue-black linear mark on the bilateral upper eyelid. Conservative treatment was taken to monitor the changes in the marks. One month later, part of the pigmentation had faded, leaving some scattered pigments in linear arrangements around the incision.\nOn physical examination, the marks were approximately 7 mm from the supraciliary line hidden in the upper eyelid crease. The patient had no dermatitis over the pigment or keloid hyperplasia, hyperpigmentation, or depigmented changes in the surgical site involvement. On palpation, no foreign body was detected in the upper eyelid. Under dermoscopy, scattered pigments were observed to accumulate in the skin (Figure 1B).\nThe diagnosis of exogenous pigment residue was suspected, given her surgical history, physical examination, and dermatology examination. We speculated that the origin of the pigmentation was a surgical marker used in preoperative preparation. Our teams chose surgical removal of bilateral upper eyelid marks. The postoperative histological examination of the skin tissue confirmed that brown pigments accumulated in the squamous epithelium and the connective tissue (Figure 1C).",
"gender": "Female"
}
] |
PMC11043528
|
[
{
"age": 2,
"case_id": "PMC10613044_01",
"case_text": "It is essential to acknowledge how CHD can sometimes manifest in unconventional ways, resembling conditions such as ischemic heart disease. A noteworthy example is a case reported by Fallah et al. involving a 2-year-old child with left main coronary artery atresia. This child exhibited classical features of ischemic heart failure, including failure to thrive, a significantly dilated left ventricle, an ejection fraction of 20%-25%, and severe functional mitral regurgitation. The diagnosis was initially suspected due to cardiac magnetic resonance findings, which indicated ischemic heart disease through extensive scarring of the left ventricle.\nAnother intriguing case is presented by Wu et al. involving a term female newborn who presented with congestive heart failure and a grade 4/6 continuous heart murmur in the left upper sternal border. This child was diagnosed with a giant fistula between the right coronary artery and the right ventricle, with an orifice of approximately 2 mm. What makes this case remarkable is the successful percutaneous closure of the fistula using an Amplatzer Duct Occluder II, originally designed for patent ductus arteriosus (PDA) closure. This was possible due to the severe aneurysmatic dilatation of the proximal right coronary artery, which could accommodate both the guidewire and the device itself.",
"gender": "Female"
},
{
"age": 7,
"case_id": "PMC10613044_02",
"case_text": "In some instances, coronary artery anomalies can be challenging to diagnose, as demonstrated in the case reported by Hu et al. In this case, a seven-year-old male child experienced sudden, sharp chest pain and syncope during high-intensity exercise. While cardiac ultrasound initially showed a normal right coronary artery, the left coronary artery exhibited non-continuous blood flow, raising suspicion of a coronary artery anomaly. Subsequent electrocardiogram (EKG)-gated computed tomography (CT) angiography revealed an abnormal origin of the left coronary artery from the upper portion of the non-coronary sinus, with a lengthy stenotic intra-mural course. This case highlights the importance of advanced imaging when there is a high clinical suspicion of a coronary artery anomaly.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC10613044_03",
"case_text": "Anomalous aortic origin of a coronary artery (AAOCA) is a prevalent congenital coronary artery anomaly that can lead to syncope in children. In fact, AAOCA is the second most common cause of sudden cardiac death in young athletes, as reported by Gao et al. in a case series of pediatric patients admitted to their hospital due to syncope. Namely, the stories of a total of eight patients with an average age of 12.5 years were described. However, not all cardiovascular problems in children are congenital; various other causes, including trauma, are possible, as documented by Ai et al. Their case involved an eight-month-old female child who underwent elective corrective surgery for Tetralogy of Fallot but experienced a life-threatening right coronary artery rupture as a result of cardiopulmonary resuscitation (CPR). This case highlights that coronary artery rupture can occur as a complication of CPR, an occurrence documented in limited literature.\nWhile pediatric cardiologists predominantly focus on CHD, acquired cardiovascular issues commonly seen in adults can also affect previously healthy children. This includes both common conditions like myocarditis and acute myocardial ischemia, as well as exceptionally rare conditions such as pulmonary artery dissection (PAD). Most cases of PAD arise due to medial degeneration, characterized by the fragmentation of elastic fibers and the widespread enlargement of pulmonary arterial branches, typically resulting from chronic pulmonary hypertension. However, Ren et al. reported two infant patients with PAD who lacked pulmonary hypertension and underlying medical conditions. Notably, these patients presented with recurrent pneumonias, lacking the typical symptoms of chest pain and hemoptysis seen in adults.\nWhile many CHDs lack a clearly defined genetic basis, some genetic diseases directly or indirectly affect cardiovascular and pulmonary physiology. Lin et al. reported the case of a newborn boy who suffered from severe dyspnea, extreme anemia, skin pallor, and hypoxemia due to severe pulmonary hypertension. Whole-exome sequencing revealed a novel compound heterozygous mutation in the gene encoding the Pyruvate Kinase enzyme, leading to a diagnosis of pyruvate kinase deficiency (PKD). Treatment of the underlying condition also resolved the pulmonary hypertension, highlighting the importance of precise diagnosis, even when a genetic component may not be immediately apparent.",
"gender": "Female"
},
{
"age": 21,
"case_id": "PMC10613044_04",
"case_text": "Liu et al. described the case of a 21-year-old man diagnosed with arrhythmic-dilated cardiomyopathy secondary to Duchenne muscular dystrophy, primarily treated with steroids. This case underscores the significance of cardiological follow-up in all patients at risk of developing heart problems, even if such cases are rare. Another example comes from Feng et al. who reported the case of a 17-year-old girl with Axenfeld-Rieger syndrome (ARS), an autosomal dominant disorder linked to disruption of the development of neural crest cells. While cardiac defects associated with ARS have been reported, this patient presented with a range of cardiac malformations not previously described. This suggests the need for echocardiography in patients with characteristic clinical manifestations of ARS or specific genetic alterations.",
"gender": "Female"
},
{
"age": 0,
"case_id": "PMC10613044_05",
"case_text": "Generalized arterial calcification of infancy (GACI) is an autosomal recessive condition characterized by extensive calcification and intimal proliferation of the large and medium arteries, including the aorta, coronary arteries, and renal arteries. This leads to vascular stenosis and a range of complications, such as severe systemic hypertension and heart failure. Fagarasan et al. presented a case of successful surgical treatment of severe aortic arch obstruction caused by calcified plaques mimicking severe coarctation of the aorta. Additionally, Lu et al. reported a case of GACI in an 8-month-old boy who presented with hypertension, hypertrophic cardiomyopathy, and heart failure, ultimately leading to his demise before bisphosphonate treatment could be initiated.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC10613044_06",
"case_text": "Mitochondrial diseases (MDs) are exceedingly rare, characterized by oxidative phosphorylation dysfunction due to nuclear and/or mitochondrial DNA variations. Wang et al. described the case of an 8-month-old male with MD, initially presenting with severe lactic acidemia and respiratory distress, along with echocardiographic features suggesting hypertrophic cardiomyopathy. The importance of this case lies in the correlation between MD and cardiac manifestations, highlighting the need for a comprehensive investigation in such patients.\nChromosomal defects, particularly Turner syndrome, are strongly associated with CHDs. Lin et al. reported a case involving a patient with Turner syndrome who had severe aortic coarctation. They successfully deployed a Cheatam-Platinum stent to address this condition, offering an alternative treatment method.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC10613044_07",
"case_text": "The integrity and configuration of vascular stents can easily be compromised with aggressive manipulation, making percutaneous interventions more challenging and technically intricate. Currently, there are no established protocols for reclaiming embolized strutted stents through percutaneous means. Prakoso et al. recounted their experience in retrieving a strutted stent from the abdominal inferior vena cava of a three-month-old boy scheduled for femoral transvenous ductal stenting (DS). Due to complex angulation, inserting the stent into the PDA proved technically unfeasible. However, they successfully recaptured the stent using a gooseneck snare through a right atrial appendage (RAA) hybrid access, all without the need for cardiopulmonary bypass support.",
"gender": "Male"
},
{
"age": 9,
"case_id": "PMC10613044_08",
"case_text": "Patients with Fontan circulation present distinct challenges related to their cardiopulmonary function. As a result, ongoing research seeks to determine whether COVID-19 poses an increased risk to this specific population. Wen et al. detailed the case of a nine-year-old male child who underwent Fontan palliation and later contracted COVID-19 during the pandemic. This case prompted investigations into the unique therapeutic needs of Fontan patients. While complications were not uncommon in this population, thrombotic complications were the most frequent. However, these complications did not appear to be specific to Fontan circulation, and most patients ultimately improved and fully recovered. Notably, worse physiological conditions like cyanosis and pulmonary hypertension were associated with higher mortality rates.",
"gender": "Male"
},
{
"age": 17,
"case_id": "PMC10613044_09",
"case_text": "At the outset of the COVID-19 outbreak, children were minimally affected, accounting for only 1.7% of cases and often presenting as asymptomatic carriers. Nevertheless, as the pandemic progressed, a growing number of children exposed to the virus developed Multisystem Inflammatory Syndrome in Children (MIS-C). Di Filippo et al. provided an extensive case series shedding light on cardiac manifestations observed during COVID-19 in children and highlighting the significance of elevated troponin levels. Among their cases, 13.6% exhibited various forms of cardiac involvement, and 9.6% showed elevated troponin levels. Given the ongoing COVID-19 pandemic that has persisted in recent years and the widespread vaccination efforts, it is unsurprising that adverse reactions to vaccination, even in children, have been reported. The use of COVID-19 vaccines is now recommended for the pediatric population. Lu et al. presented a noteworthy case series detailing their experience with adverse reactions to the hepatitis B vaccine, aiming to provide insights into the general mechanisms underlying vaccine adverse reactions. Of the adverse events documented, three were cases of myocarditis, two were meningitis, and two were interstitial pneumonia. A similar case of adverse reaction to an RNA COVID-19 vaccine in a pediatric patient was described by Han et al. They presented the medical history of a 17-year-old female patient who experienced chest pain and syncope following her initial dose of the messenger RNA COVID-19 vaccine. Subsequent cardiac magnetic resonance imaging confirmed the diagnosis of myocarditis based on established criteria.\nDilated cardiomyopathy (DCM) stands as one of the primary causes of heart failure in children, with heart failure often being the initial presentation, though clinical manifestations can vary. Wang et al. reported the first documented case of marked right atrial (RA) enlargement as the initial presentation of DCM. Genetic analysis revealed a heterozygous mutation associated with cardiomyopathies. Further sequencing identified the same variant in Pkp2 in the patient's asymptomatic mother, whose echocardiography showed an enlarged left atrium (LA) and left ventricle (LV), mild to moderate mitral regurgitation, and a reduced left ventricular ejection fraction (LVEF) of 48%. Thus, she was also diagnosed with DCM, establishing a familial DCM diagnosis based on the patient's and mother's features.\nZhang et al. presented another unique case: the first instance of fetal non-compaction cardiomyopathy occurring simultaneously in both ventricles, coupled with the identification of a mutation in the calmodulin gene (CALM2). Prenatal echocardiography initially detected biventricular non-compaction cardiomyopathy alongside sinus bradycardia. Following the termination of the pregnancy, autopsy and histopathological examination confirmed the diagnosis of fetal biventricular non-compaction cardiomyopathy.\nTorsades de pointes (Tdp) represents a life-threatening ventricular tachyarrhythmia characterized by a constantly shifting QRS complex morphology, twisting the electrical axis around the isoelectric line. Wang et al. conducted a study to document the diagnosis and management of a rare case involving frequent Tdp in a child with a novel genetic mutation. The patient was successfully treated with a cardioverter-defibrillator (ICD) implantation and optimization of antiarrhythmic therapy.\nAtrial tachycardia (AT) originating from the atrial appendage (AA) is clinically characterized by palpitations, chest discomfort, dyspnea, and other nonspecific symptoms. In children, AT originating from the AA accounts for approximately 30%-50% of AT cases, a higher incidence than in adults. Liu et al. reported three cases of AT originating from the AA, treated with a combination of three-dimensional electroanatomic mapping and ablation, and surgical atrial appendage resection performed in conjunction with cardiac surgery. Atrial fibrillation (AF) is an uncommon occurrence among children, especially in the absence of underlying congenital heart disease. Pediatric epidemiological data on AF are limited, often relying on findings from studies conducted in the adult population. When AF is diagnosed in a young patient with a structurally normal heart, a comprehensive investigation into its underlying cause becomes essential. Hubrechts et al. presented a rare and potentially life-threatening origin of AF: intrathoracic non-Hodgkin lymphoma with cardiac involvement, as revealed by cardiac magnetic resonance imaging (CMR). This represents the first documented pediatric case attributing new-onset AF to neoplastic infiltration of the left atrial wall.",
"gender": "Female"
},
{
"age": 5,
"case_id": "PMC10613044_10",
"case_text": "Catecholamine-induced cardiomyopathy is a rare and challenging complication associated with phaeochromocytoma-paraganglioma, more commonly observed in pheochromocytoma but less common in neuroblastoma (NB). Xu et al. presented the case of a 5-year-old girl with NB who developed catecholamine cardiomyopathy, specifically hypertrophic cardiomyopathy (HCM), leading to ventricular hypertrophy, hypertension, and heart failure. Surgical removal of the tumor resulted in the normalization of blood pressure and urinary catecholamine levels. A 7-month follow-up revealed the resolution of ventricular hypertrophy and the restoration of normal ventricular function.",
"gender": "Female"
},
{
"age": 7,
"case_id": "PMC10613044_11",
"case_text": "Restrictive cardiomyopathy (RCM) represents the least common phenotype among pediatric heart muscle diseases, accounting for approximately 5% of all diagnosed cardiomyopathies, and is associated with a poor prognosis in children. Ji et al. reported a case of RCM that initially manifested with ventricular fibrillation in a 7-year-old boy who was successfully resuscitated by an automated external defibrillator (AED) outside the hospital. At present, the boy is being treated with oral diuretics and metoprolol tartrate tablets, as his parents declined an ICD implantation, and he is undergoing outpatient follow-up.",
"gender": "Male"
},
{
"age": 10,
"case_id": "PMC10613044_12",
"case_text": "Heart-lung transplantation (HLT) remains the sole viable treatment for certain advanced cardiopulmonary diseases. However, the scarcity of donors, the necessity for intricate surgical coordination, and the demanding post-operative care limit the number of such procedures performed in children worldwide. Post-transplantation challenges persist, including rejection, infections, renal issues, tumors, and other complications that can adversely impact patients' quality of life. Zhuang et al. documented a case of cerebral aspergillosis in a 10-year-old child that developed three months after HLT. Fortunately, the patient responded well to treatment, and there were no recurrences of the disease during the 3-year follow-up period.\nIdiopathic pulmonary arterial hypertension (PAH) is a rare and progressively debilitating condition affecting the pulmonary arteries. Epoprostenol, a synthetic prostaglandin analog, stands out as the most potent pharmaceutical option for treating PAH. Chida-Nagai et al. shared their experience with an adolescent female patient who successfully transitioned from continuous intravenous epoprostenol therapy to gradual oral selexipag administration over an extended period. Encouragingly, this shift proved effective, suggesting that oral selexipag can offer comparable efficacy to epoprostenol, especially for managing PAH in young patients.",
"gender": "Female"
},
{
"age": 8,
"case_id": "PMC10613044_13",
"case_text": "Lian et al. presented a case involving an eight-year-old child with an exceedingly rare combination of right aortic arch, right patent ductus arteriosus (PDA), and right tracheal bronchus, a condition known since birth. Interestingly, the patient later developed symptoms of airway compression, prompting surgical intervention involving the ligation and division of the PDA through a standard midline sternotomy. This case is remarkable not only for its unprecedented combination but also because the patient remained asymptomatic for many years despite the congenital anomaly being known since birth.\nHypoplastic left heart complex (HLHC), which also encompasses Shone's syndrome, constitutes a rare congenital heart disease (CHD) characterized by severe obstructive lesions in the left-sided inflow and outflow tracts. While supramitral fibroelastic membranes contributing to mitral valve (MV) obstruction are common in this disease entity, left ventricular endocardial fibroelastosis (EFE) has not typically been considered a major factor in Shone's variant HLHC. Diaz-Gil et al. provided the first description of active clinical manifestation of EFE and remodeling of the endocardium through endothelial-to-mesenchymal transformation (EndMT) in an adolescent with Shone's variant HLHC and a genetic heterozygous ABL1 variant. This case highlights the need for novel therapeutic approaches for EFE, potentially focusing on molecular factors influenced by intrinsic and extrinsic stimuli of EndMT.",
"gender": "Unknown"
},
{
"age": 7,
"case_id": "PMC10613044_14",
"case_text": "Surgery is the standard approach to correct ventricular septal defects (VSDs), especially in complex cases involving individuals with pulmonary hypertension and multiple defects. In recent years, transcatheter percutaneous closure has gained favor, particularly for muscular VSDs located in challenging surgical sites. However, repairing multiple defects often involves using multiple devices and typically relies on fluoroscopy guidance. Siagian et al. detailed their experience with the closure of multiple VSDs using a single device and a zero-fluoroscopy technique in a 7-year-old patient who had experienced shortness of breath for a year prior to admission. They employed a jugular vein approach to successfully perform percutaneous transcatheter VSD closure. Remarkably, 1.5 years after the procedure, any visible signs of pulmonary hypertension had resolved, leading to the discontinuation of pulmonary artery dilator treatment.\nIn conclusion, it is crucial to raise awareness of pediatric cardiology among healthcare professionals, and the objective of these case series is precisely that. Through the sharing of a collection of rare case reports, we aimed to foster an understanding of the various conditions' potential manifestations and their corresponding treatments. This knowledge can significantly enhance clinical practices, diagnostics, and therapeutic interventions.",
"gender": "Unknown"
}
] |
PMC10613044
|
[
{
"age": 54,
"case_id": "PMC11270333_01",
"case_text": "A 54-year-old female was referred to our drug allergy service for a suspected adverse drug reaction. She had been commenced on treatment for hairy cell leukemia with cladribine, allopurinol, domperidone, and cotrimoxazole; 7 days later she was hospitalized with fever. She was diagnosed with neutropenic sepsis (cladribine stopped) and started on amikacin, piperacillin/tazobactam, and meropenem. Approximately 48 hours later she developed facial erythema and edema; over the ensuing 72 hours this progressed cephalocaudally to a generalized severe extensive confluent maculopapular exanthema with perifollicular hemorrhage (Figure 1). There was no blistering, pustulosis, desquamation, or mucosal involvement. She had no prior history of dermatological or allergic conditions. Blood eosinophil count, liver and renal function all remained within normal limits. Skin biopsy showed superficial perivascular inflammation with subtle lichenoid interface-change and no eosinophil infiltrate, consistent with a morbilliform drug eruption. All drugs were discontinued ~ 48 hours post rash onset, and she gradually recovered over the ensuing 2 weeks with topical corticosteroids and emollients.",
"gender": "Female"
}
] |
PMC11270333
|
[
{
"age": 73,
"case_id": "PMC10585360_01",
"case_text": "A 73-year-old male patient was found to have multiple lung nodules during a routine chest Computed Tomography (CT) scan conducted one month ago. Among these, the nodule in the anterior segment of the right upper lobe(RUL) measures 18.3mm, the nodule in the posterior segment of the RUL measures 18.6mm, the nodule in the dorsal segment of the right lower lobe(RLL) measures 20.1mm, the nodule in the posterior apical segment of the left upper lobe(LUL) measures 6mm, and the nodule in the dorsal segment of the left lower lobe (LLL) measures 16.2mm. The patient's Chest CT results are shown in Figure 1 . To rule out lung nodules caused by inflammatory conditions, the patient underwent anti-inflammatory treatment. On reevaluation with positron emission tomography-CT(PET-CT)after 14 days, multiple abnormal density shadows were detected in both lungs, accompanied by increased metabolic activity, suggesting malignancy. Among these, the SUVmax values were 13.94 for the nodule in the anterior segment of the RUL, 8.17 for the nodule in the posterior segment of the RUL, 11.39 for the nodule in the RLL, 7.23 for the nodule in the LUL, and 5.3 for the nodule in the LLL. The laboratory test results showed no abnormalities in the blood routine, coagulation function, liver function, and kidney function. The results of the human immunodeficiency virus (HIV) antibody, hepatitis B 5 items, and hepatitis C antibody/syphilis antibody tests were all negative. The physical examination revealed a body temperature of 36.2 C, respiratory rate of 16 breaths per minute, pulse rate of 78 beats per minute, and blood pressure of 144/88 mmHg. The patient predominantly exhibited abdominal breathing with symmetrical respiratory movements. Clear breath sounds were heard in both lungs. The electrocardiogram showed sinus rhythm, indicating a generally normal cardiac activity. Thus, we decided to perform staged video-assisted thoracoscopic wedge resection of the lung lesions in order to achieve complete tumor removal. First, the patient underwent RUL wedge resection and RLL wedge resection in the left lateral decubitus position using video-assisted thoracoscopic surgery (VATS). Preoperatively, the patient's blood gas analysis showed a pH of 7.41, pCO2 of 40mmHg, pO2 of 76mmHg, HCO3- of 25.4mmol/L, BE of 0.7mmol/L, and SaO2 of 95%. One week later, the patient underwent LUL wedge resection and LLL wedge resection in the right lateral decubitus position using VATS. Preoperatively, the patient's blood gas analysis showed a pH of 7.49, pCO2 of 36mmHg, pO2 of 72mmHg, HCO3- of 27.4mmol/L, BE of 4.1mmol/L, and SaO2 of 96%. The intraoperative pathological diagnosis revealed squamous cell carcinoma for the nodule in the RUL(Nodule 1), chronic granulomatous inflammation suggestive of tuberculosis for the nodules in the RUL(Nodule 2), and LLL, invasive adenocarcinoma for the nodule in the RLL, and hamartoma for the nodule in the LUL. Postoperative pathological examination revealed the following findings: The nodule in the RUL (Nodule 1) is consistent with moderately to poorly differentiated squamous cell carcinoma, supported by immunohistochemical staining and morphological features. The tissue sample from the second nodule in the RUL exhibited extensive necrosis, surrounded by chronic granulomatous inflammation. The nodule in the RLL is diagnosed as invasive adenocarcinoma, primarily exhibiting a follicular pattern, with additional findings of an adherent growth pattern and a small amount of complex glandular structures. The patient's Pathological findings are shown in Figure 2 . No definite vascular invasion was observed. The immunohistochemical staining results were as follows: CK (AE1/AE3) (+), TTF-1 (-), NapsinA (-), CK7 (+), CK5/6 (+), P40 (+), Ki67 (80% positivity), CD34 (-), CK8/18 (weak +), vimentin (focal +), INSM1 (-), BRG-1 (+),INI-1(+).Special staining results were as follows: PAS stain(-), antacid stain(-). Postoperatively, the patient underwent genetic testing, which did not detect any gene mutations associated with lung cancer. Furthermore, the patient was staged as pT1b, and no further treatment was deemed necessary. The patient has fully recovered and has been discharged from the hospital.",
"gender": "Male"
}
] |
PMC10585360
|
[
{
"age": 60,
"case_id": "PMC10663810_01",
"case_text": "A 60 years-old patient was first seen at the outpatient clinic in 2012. He was treated with low dose aspirin, rosuvastatin for hypercholesterolemia, bisoprolol and eprosartan for arterial hypertension. His medical history was besides unremarkable and he was a non-smoker. He presented with a one-year history of daily limited hemoptysis with productive cough and MMRC2 dyspnea. He had already undergone a chest-CT in another center and a diagnosis of fibrosing interstitial lung disease (ILD) had been made. A treatment with oral methylprednisolone had been prescribed for a few months without any symptomatic improvement. Physical examination found an oxygen saturation of 93 % and bilateral lung crepitations. We performed a new chest CT and found bilateral septal thickening, condensations, ground glass opacifications and traction bronchiectasis with a basal predominance (Fig. 1A). A broncho-alveolar lavage (BAL) was performed that found 202 elements/mul of which 1 % neutrophiles, 2 % monocytes, 17 % macrophages and 78 % lymphocytes. CD4/CD8 ratio was 1. There were no biological or clinical signs of any auto-immune disease or vasculitis. The patient had no known exposition, in particular to birds or molds. The possibility of a drug-induced interstitial lung disease (ILD) was considered. At that time, there were no description of lung toxicity for aspirine, bisoprolol and rosuvastatine but a literature research found a report about an eprosartan-induced ILD and this medication was thus stopped. The patient soon presented a major improvement of his symptoms with a complete disappearance of the hemoptysis, cough and dyspnea. There was no new chest CT performed at that point.\nHe sought no further medical assistance for the next 10 years when he returned to our outpatient clinic with complains of chest pain and dyspnea. He had in the meantime developed diabetes and was treated with low dose aspirin, metformin and bisoprolol. Given the symptoms, he was swiftly addressed to the cardiology department where a diagnosis of heart failure with reduced ejection fraction (HFrEF) due to an ischemic cardiomyopathy was made. The patient underwent an angioplasty and stenting of the left anterior descending artery. Rosuvastatin, ezetimibe, clopidogrel and spironolactone were added to his other medications. A new chest CT was performed at that point which showed limited reticulations probably related to the ILD diagnosed in 2012 (Fig. 1B). Due to the heart failure, the cardiologist asked us for the permission to start valsartan in order to be able to introduce later the association sacubitril/valsartan (Entresto ) which we agreed given the absence of any described class effect for lung toxicity due to angiotensin receptor blockers. The cardiac situation subsequently stabilized and the left ventricular function normalized. Eight months after initiating these new medications, the patient presented with MMRC 2 dyspnea and daily hemoptysis. There were no clinical or echocardiographic sign of cardiac dysfunction and a new chest CT was performed. This revealed the reappearance of abnormalities that were very similar to those found in 2012 with bilateral basal ground glass opacification and septal thickening (Fig. 1C). Patient refused to perform a new BAL. The blood test revealed no signs of infection. The research for auto-antibodies was not performed. Given the patient's medical history, valsartan/sacubitril was interrupted, the other medications remained unchanged. Two weeks after this treatment had been stopped, the hemoptysis disappeared as the dyspnea. The Chest CT performed 6 months later with otherwise unchanged medications and environment showed a spectacular improvement (Fig. 1D).",
"gender": "Male"
}
] |
PMC10663810
|
[
{
"age": 0,
"case_id": "PMC10480523_01",
"case_text": "A 25-month-old boy was referred to our hospital following a 4-day fever. The patient had no history of infection, trauma, surgery, or tuberculosis or recent history of receiving injections. He had completed all required vaccinations to this point. On admission, his temperature, blood pressure, heart rate, and respiratory rate were 38.8 C, 86/48 mmHg, 120 beats/min, and 20 breaths/min, respectively. The patient did not experience headache or abdominal or back pain and could sit and walk without discomfort. Neurological examination did not reveal any findings suggestive of meningitis. His chest radiograph revealed no abnormalities. Laboratory tests revealed white blood cell count, 14,200/mL (69.2% neutrophils); C-reactive protein (CRP), 10.8 mg/dL (normal range: < 0.2 mg/dL); procalcitonin, 0.70 ng/mL (< 0.05 mug/L); fibrinogen, 1175 mg/dL (200-400 mg/dL); fibrin/fibrinogen degradation products (FDP), 14.0 mug/mL (1.0-10.0 mug/mL); and D-dimer, 5.1 mug/mL (0.15-1.0 mug/mL). Although the patient had received oral antibiotics before referral, blood and urine cultures were routinely performed. The site of inflammation and causative organism were not identified. However, a severe infection was suspected. Therefore, we decided to first treat the patient with a broad-spectrum antibiotic at the recommended dose for severe infection. Meropenem (90 mg/kg/day) was intravenously administered.\nOn day 4 after hospitalization, the fever resolved and patient's general condition improved. On the same day, blood tests showed a discrepancy in inflammatory markers. Improvement was observed in white blood cells (9520/microL) and CRP (5.66 mg/dL. However, there was prolonged activation of the coagulation-fibrinolytic system: fibrinogen, 904 mg/dL; FDP, 14.1 mug/mL; and D-dimer, 6.0 mug/mL. On day 5 after admission, blood and urine cultures showed negative results. Echocardiography and abdominal ultrasound did not reveal any abnormalities. Further examinations were performed on the same day. Contrast-enhanced thoracoabdominal computed tomography (CT) was performed, which revealed a large epidural mass in the spinal canal spanning the level of the 12th thoracic vertebra to the 3rd lumbar vertebra (Fig. 1A, C). Magnetic resonance imaging (MRI) was performed, which led to the diagnosis of facet joint arthritis with lumbar SEA (Fig. 1B, D). No significant compression of the spinal cord was observed. We discussed with the orthopedic surgeon whether surgical drainage of the abscess should be performed. Due to the consistent absence of neurological symptoms and resolution of fever, antibiotic therapy was continued without surgical treatment. Since blood cultures revealed negative results and the abscess was not drained, the causative agent of the SEA was unknown. The patient had achieved clinical improvement with Meropenem. Therefore, we continued him on Meropenem. No new symptoms developed. On day 17 after hospitalization, MRI was repeated. The SEA had disappeared almost completely. On day 21, the patient was switched from intravenous antimicrobial (meropenem) to an oral antimicrobial (cephalexin, 100 mg/kg/day). Regarding the choice of oral antibiotic, cephalexin was selected as a first-generation cephem antibiotic based on previous reports of treatment of SEA. The dosage was determined taking into account the severity of infection. The patient was subsequently discharged on day 24 after hospitalization. Oral antimicrobial therapy was continued for 2 weeks. Three months after onset, MRI revealed resolution of the epidural abscess and improvement in the high signal in the facet joint.",
"gender": "Male"
}
] |
PMC10480523
|
[
{
"age": 12,
"case_id": "PMC11087666_01",
"case_text": "A healthy 12-year-old female Brazilian patient was referred to the the Acute Febrile Diseases Reference Center (CPD-Mal) at the Instituto Nacional de Infectologia Evandro Chagas, Fiocruz (Rio de Janeiro, Brazil) with high fever, chills, severe headache, and mild diarrhoea. The patient reported having been diagnosed with P. vivax malaria (15 parasites/mm3) on January 15th, 2021 in the local Reference Center during a consultation when she was living in the Brazilian Amazon. She was treated with a chloroquine and primaquine regimen, with correct drug dosage and treatment time.\nOn May 13th, 2021 (4 months after the first infection), a recurrence of P. vivax was diagnosed using a species-specific real time polymerase chain reaction (PCR) capable to detect submicroscopic parasitemias, as well as Abbot Pf/Pf/Pv RDT and thick blood smear (TBS); no P. falciparum or P. malariae mixed infections were detected by PCR. A new treatment with chloroquine and primaquine was prescribed according to the Brazilian treatment guidelines. The same malaria tests (PCR, RDT and TBS) were negative after this course of treatment. This new episode was considered a malaria relapse as the patient did not return to a malaria-endemic area and there was no epidemiological history to support the possibility of a new infection.\nIn July 2021 (6 months after the first infection), the patient developed high fever, chills, asthenia, and dyspnea. Again, the same PCR, RDT and TBS tests diagnosed a new relapse of P. vivax infection. Treatment with artesunate and mefloquine was recommended for this second relapse. The patient required hospitalisation and evolved with thrombocytopenia without bleeding episodes. Laboratory tests confirmed clinical cure after the therapeutic regimen. The patient was hospitalised for four days during the second recurrence that did not progress to clinical severity. She was discharged from the hospital with clinical and parasitological cure attested by parasite clearance through PCR, RDT and TBS clearance on July 29th, 2021. In this second relapse, the patient had a much greater parasitaemia, predisposing to greater destruction of red blood cells, causing congestion in the spleen and producing platelet sequestration, justifying the transient thrombocytopenia. Table 1 shows the main laboratory tests performed during first and second relapses follow-up.\nSubsequently, the patient received prophylactic treatment with chloroquine weekly for three months (July to October 2021) and after twelve months no malaria recurrence was detected by PCR, RDT and TBS. Table 2 shows the therapeutic regimens used during follow-up.",
"gender": "Female"
}
] |
PMC11087666
|
[
{
"age": 36,
"case_id": "PMC10696568_01",
"case_text": "A previously well 36-year-old man presented to the medical emergency department at Tygerberg Hospital with a 3-day history of nausea, vomiting, headache, photophobia, fever, loss of appetite, abdominal pain and bloody diarrhoea. The patient, a Malawian national, works as a gardener and lives with his wife and children in a sandy informal settlement infested with rodents. He reported a significant ethanol history, which included binge drinking on weekends. As a result of an initial language barrier, the travel history was unclear, but any recent travel history was subsequently disproven. On initial assessment, the patient was tachycardic, hypotensive and pyrexial with a heart rate of 128 beats per minute (bpm), blood pressure of 69/35 mmHg and temperature of 38.1 C. He was profoundly jaundiced with prominent conjunctival suffusion. The respiratory examination was notable for left lower zone crackles and generalised abdominal tenderness and guarding on abdominal examination.\nThe patient was started on vasopressors after an inadequate response to fluid resuscitation and empiric antibiotic therapy with ceftriaxone was initiated. Blood and urine cultures and a lumbar puncture were performed on the day of admission. The chest radiograph revealed no abnormalities. Blood results were remarkable for elevated C-reactive protein of 349 mg/L (0 mg/L - 10 mg/L), a leukocytosis of 20.21 x 109/L (3.92 - 10.4 x 109/L), renal impairment with blood urea nitrogen of 20.8 mmol/L (2.1 mmol/L - 7.1 mmol/L) and creatinine of 331 mumol/L (64 mumol/L - 104 mumol/L), conjugated hyperbilirubinemia of 109 mumol/L (0 mumol/L - 3 mumol/L) and total bilirubin of 126 mumol/L (5 mumol/L - 21mumol/L), an ALT of 35 U/L (10 U/L - 40 U/L) and aspartate aminotransferase (AST) of 98 U/L (15 U/L - 40 U/L), sodium of 135 mmol/L (136 mmol/L - 145 mmol/L), albumin of 28 g/L (35 g/L - 52 g/L) and thrombocytopenia of 38 x 109/L (171 - 388 x 109/L). A disseminated intravascular coagulation (DIC) screen revealed an international normalised ratio (INR) of 1.23, fibrinogen of 9.0 g/L (2 g/L - 4 g/L) and D-dimer of 1.05 mg/L (0.00 mg/L - 0.25 mg/L). Cerebrospinal fluid revealed a protein of 0.41 g/L (0.15 g/L - 0.45 g/L), glucose of 3.7 mmol/L, cell count showed 2 lymphocytes, 40 erythrocytes, no polymorphs and a negative gram stain and culture. The patients HIV serology was negative. The computed tomography imaging of the abdomen revealed peri-appendiceal fluid, but the surgical review was inconsistent with appendicitis.\nAfter referral to the Internal Medicine department, further investigations included a malaria rapid diagnostic test, thin and thick blood smears and serology for leptospirosis. The patient demonstrated a significant clinical improvement within 24 h of ceftriaxone initiation and was weaned from vasopressor therapy. Blood and urine cultures revealed no growth, malaria rapid antigen and urine Legionella antigen testing were negative. Serology for hepatitis A, B and C was also negative. On day eight, the Leptospira IgM was positive. The patient was discharged after 10 days of ceftriaxone when haemodynamically stable, apyrexial and mobilising in the ward. His renal function had normalised, and serum bilirubin was on a downward trend. An infectious diseases outpatient appointment was planned but not kept. A telephonic follow-up was carried out approximately 2 months post-discharge and the patient reported that he felt entirely well.",
"gender": "Male"
}
] |
PMC10696568
|
[
{
"age": 29,
"case_id": "PMC10963103_01",
"case_text": "The patient was a 29-year-old Caucasian male who presented to the emergency department (ED) with right-sided testicular discomfort, testicular swelling, dysuria, and hematospermia. Urinalysis was obtained and showed 3+ leukocyte esterase, and urine culture was positive for Escherichia coli. His symptoms resolved with antibiotics, and he was discharged. Subsequently, he presented a second time to the ED within one month for similar symptoms of dysuria and right-sided testicular discomfort and swelling. Computed tomography (CT) urogram obtained at that time revealed a normal left-sided collecting system and a congenitally atrophic right kidney with ipsilateral ectopic ureter implanting into a dilated cystic seminal vesicle (Figure 1). The right seminal vesicle was measured as 3.3 x 2.5 x 4.6 cm and contained approximately 10-15 cysts. His right ectopic ureter was dilated distally to the L5-S1 level. No hydronephrosis was noted. The patient was unaware of this congenital finding prior to his CT results. There were no prenatal imaging findings included in his electronic medical record. He was subsequently referred to an outside urologist who took the patient to the operating room and performed a cystoscopy. During the cystoscopy, the right ureteral orifice was observed in the prostate fossa just distal to the verumontanum. A cone-tip catheter was placed into this orifice, and a gentle retrograde ureterogram was performed, showing a dilated seminal vesicle. At this point, a ureteroscopy was performed and confirmed the insertion of the right ureter into the ipsilateral seminal vesicle. A retrograde pyelogram (Figure 2) was then performed showing a notably dilated right ureter. The patient was then referred to our care for further evaluation and possible surgical intervention.\nOn presentation, he was again reporting continued right-sided scrotal pain and hematospermia. His family and social history were noncontributory. He had no significant urologic past medical history to this point. We performed a right-sided seminal vesiculoscopy via the ejaculatory duct and performed a repeat retrograde pyelogram visualizing the filling of the right seminal vesicle with contrast from the ectopic right ureter, confirming the diagnosis. The patient was counselled that his recurrent symptoms were likely secondary to his atrophic right kidney with ectopic ureteral implantation into his right seminal vesicle. Given that he was continuing to have hematospermia and right-sided episodes of epididymitis, we discussed the removal of his ectopic ureter and his atrophic right kidney. On review of his CT imaging, his seminal vesicle cystic burden was determined to be mild. Given this, we discussed the possibility of sparing the seminal vesicle. The patient was concerned that removing the seminal vesicle may result in reduced ejaculation and erectile dysfunction. The patient was cautioned that preserving the seminal vesicle may result in incomplete resolution of his symptoms. He elected to undergo a right nephroureterectomy, and a robotic approach was selected. Informed consent was obtained. The patient and his partner declined fertility testing at this time.\nAfter anesthesia was induced, the patient was placed into the left lateral decubitus position with the right flank exposed. His right flank was prepped and draped in a sterile fashion. We placed 4 robotic arms in a modified diamond configuration with a 10/12 AirSeal assist superior to the umbilicus and the robot was docked (Figure 3). The right colon was reflected medially. We identified the ureter as it was crossing over the iliac. The ureter had a normal appearance cephalad to the common iliac but was dilated caudad to this area. We circumferentially dissected out the ureter distally down towards the level of the seminal vesicle. We identified the ureter inserted into the seminal vesicle (Figure 4(a)). We were able to dissect the ureter to its insertion and then transected the ectopic ureter at the level of the seminal vesicle using Hem-o-Lok clips (Figure 4(b)). Thus, the seminal vesicle was left intact. We minimized cautery use around the tip to avoid damage to the seminal vesicle over the neurovascular bundle. Next, we traced up the ureter cephalad. We were able to dissect it towards the level of the atrophic right kidney. Next, we continued to reflect the right hemicolon medially, and we were able to identify the adrenal gland. This was spared and kept in a superior direction. Thus, by dissecting around the adrenal gland in the lower pole portion, we were able to identify the area of the renal hilum (Figure 4(c)). We did identify 2 renal veins. One lower pole renal vein was clipped with Hem-o-Lok clips. The second main renal vein with the right renal artery was transected en bloc with a 45 mm endovascular staple fire. At this point in time, the kidney was freely detached and we had thus performed a complete nephrectomy with total ureterectomy (Figure 4(d)). The robot was undocked. The patient tolerated the procedure and was returned to post-op anesthesia holding in stable condition. The final pathology showed a benign ureter and atrophic kidney (Figure 5).\nThe patient was discharged on postoperative day 1. On postoperative day 5, the patient returned to the ED with urinary retention for 2 hours and left-sided testicular pain. He denied any right-sided testicular pain. Urine culture was positive for E. coli, and he was prescribed antibiotics and discharged. At his first two-week postoperative clinic visit, he endorsed the complete resolution of symptoms. The urine culture obtained at this visit was clean. The patient was instructed to contact the clinic if he experienced any new or persistent symptoms. At the time of this report, he is now 6 months out from surgery and has not reported any new or persistent symptoms. He has had no additional ED admissions.",
"gender": "Male"
}
] |
PMC10963103
|
[
{
"age": 40,
"case_id": "PMC10761340_01",
"case_text": "A 40-year-old Brazilian male patient, phototype IV, with no previous medical history, presented with an erythematous pruritic rash over his trunk, extremities and face, accompanied by fever. Initially the patient denied any recent drug intake during his visit to primary healthcare provider. However, due to progression of the dermatosis, he sought further medical assistance at our department. Eventually, the patient disclosed his recent initiation of tadalafil for the treatment of erectile dysfunction, with symptoms manifesting five days following its commencement. The patient denied any past ocurrences of joint pain or familial cutaneous disorders. Upon physical examination, multiple minute non-follicular sterile pustules were observed against a backdrop of diffusely reddned skin, encompassing the trunk, arms and intertriginous zones (Fig. 1 a), Fig. 1 b)). Notably, the mucous membranes were unaffected. Laboratory evaluation revealed an elevation in total leukocyte count with a prominent neutrophilic predominance. Viral and bacterial serologies where negative. Subsequently, a skin biopsy was performed showing spongiform subcorneal pustules and mixed dermal infiltrate with neutrophils and eosinophils (Fig. 2). According to the EUROSCAR study group scoring system, our patient achieved a score of 10, indicating a definitive diagnosis of AGEP. The patient's tadalafil usage was discontinued and treatment commenced with oral prednisolone at a daily dosage of 40 mg. The patient refused hospitalization and was managed on an outpatient basis, leading to progressive pustular desquamation and improvement of symptoms over subsequent days. Follow-up examination after two weeks demonstrated complete resolution of the rash.",
"gender": "Male"
}
] |
PMC10761340
|
[
{
"age": 13,
"case_id": "PMC10908420_01",
"case_text": "A 13-year-old male, with a psychiatric history of ASD, ADHD, anxiety, and depression, was presented to outpatient child psychiatry services for new-onset psychotic symptoms and increased verbal and behavioral aggression. The symptoms began three weeks before this clinic visit. Psychotic symptoms included visual and auditory hallucinations, paranoid delusions, and bizarre behaviors. His parents reported that he was living in \"virtual reality,\" where he \"acted like a cat.\" He was making hissing noises, trying to claw at people's faces. He was seeing cartoons coming out of the ceiling telling him to do things, and he would mumble to himself for extended periods. He had \"zombie vision,\" which made things \"twisted\" and people's eyes big. He had a poor sleep at night as he was worried about recurrent bad dreams about \"Mooney owls\" and the \"Mooney owl queen\" coming out of the dark screen of the television or dark window. He stated he had made peace with Mooney Owls after agreeing \"not to try to steal their eggs,\" but the queen Mooney Owl might still bother him with \"voodoo-biting bats\" that would attack his head and fingers. At school, he acted paranoid. He complained about his peers poking at his back, stomach, and butt. He heard their voices telling him, \"You don't belong here.\" His behavior was unpredictable. He slapped the school principal. He had difficulty transitioning from one task to another. In the clinic, mental status examination was significant for increased psychomotor activity, pressured speech, paranoid delusions, visual hallucinations, and thought perseveration on \"Mooney owls.\" Insight and judgment were limited. The patient has been prescribed multiple medications, which included lisdexamfetamine 40 mg qAM, guanfacine 1 mg TID, aripiprazole 5 mg qAM, fluoxetine 15 mg qAM, clonidine 0.1 mg qHS, and trazodone 100 mg qHS. He had some significant medication adjustments recently, and four weeks before this visit, methylphenidate extended-release 36 mg was switched to lisdexamfetamine 40 mg for attentional difficulties and impulsivity. Then, two weeks after that risperidone 2 mg was switched to aripiprazole 5 mg for these psychotic symptoms. The patient was on methylphenidate extended-release 36 mg for three months and risperidone for the past two months. A thorough first episode psychosis workup, including complete blood count, comprehensive metabolic panel, serum B12, urine toxicology screen, thyroid stimulating hormone, HIV test, ESR, CRP, antinuclear antibody test, and free urine cortisol, and an MRI brain study yielded unremarkable results. The patient had been diagnosed with ASD at age three and ADHD at age eight, with symptoms of ASD involving deficits in social communication and repetitive restricted behaviors and interests. Anxiety about bee bites and the well-being of family members, coupled with occasional feelings of sadness and hopelessness, were reported. No significant medical and substance use history.\nDuring this clinic visit, lisdexamfetamine dose was decreased from 40 mg to 30 mg with a close follow-up in two weeks. The patient had improvement in psychotic symptoms such as hallucinations and paranoia, but perseveration about Mooney Owls persisted. Further reduction in lisdexamphetamine dose from 30 to 10 mg led to rebound ADHD symptoms such as significant impulsivity, poor emotional regulation with frequent meltdowns, and distractibility. At that point, lisdexamphetamine 10 mg was switched to methylphenidate extended-release 10 mg. This medication change led to the remission of psychotic symptoms in two weeks. The patient's affect was bright during subsequent follow-ups, with no restlessness, pressured speech, and perseverative thinking. At the time of the last follow-up, the patient was on methylphenidate extended-release 10 mg q AM, guanfacine 1 mg TID, aripiprazole 5 mg qAM, fluoxetine 15 mg qAM, clonidine 0.1 mg qHS, and trazodone 100 mg qHS.",
"gender": "Male"
}
] |
PMC10908420
|
[
{
"age": 16,
"case_id": "PMC10515513_01",
"case_text": "A 16-year-old girl presented at 11 years of age with symptoms of limited range of motion of the bilateral hips, knees, and ankles, as well as pain at several entheses. She was diagnosed with psoriatic JIA and started on and subsequently failed leflunomide (2016), methotrexate (1/2017), and adalimumab (10/2017) due to ongoing arthritis and enthesitis. Due to development of headaches and rash, she was switched from adalimumab to etanercept (12/2019) and methotrexate was restarted in 2/2020 due to persistent enthesitis. As a result of persistent active disease, she was switched to secukinumab in 2020 with resultant improvement in symptoms and normalization of imaging. Of note, she was transitioned from methotrexate to sulfasalazine 12/2020 due to nausea with methotrexate. Outline of patients prior therapies are listed in Supplemental Table 1.",
"gender": "Female"
},
{
"age": 20,
"case_id": "PMC10515513_02",
"case_text": "A 20-year-old woman presented at 10 years of age with symptoms of limited range of motion, swelling, and pain in the small joints of her hands. She was diagnosed with polyarticular JIA and started on methotrexate (oral in 2014, then subcutaneous in 2015). Due to worsening of her asthma, she was switched to leflunomide (2015) with good tolerance but limited efficacy in arthritis control. She was subsequently started on etanercept (2017) which failed to control her symptoms, and then transitioned to adalimumab (every 2 weeks in January 2019, then weekly in March 2019 due to ongoing disease activity). Of note, it was later found that she had history of skin lesions as a young child prior to arthritis treatment that were suspected to be psoriasis. Due to continued active arthritis, oral methotrexate was added to her regimen in 7/2020, but then discontinued due to diarrhea. In 2021, due to her persistent joint symptoms as well as development of significant psoriatic lesions, she was re-classified as PsA and started on secukinumab with noted improvement in her joint symptoms and physical examination on follow-up, though with continued active psoriasis. Secukinumab dose was increased from 150 to 300 mg with improvement in skin disease.",
"gender": "Female"
},
{
"age": 16,
"case_id": "PMC10515513_03",
"case_text": "A 16-year-old boy presented at 11 years of age with left hip pain and stiffness, as well as MRI findings consistent with aggressive inflammatory arthritis. He was started on etanercept at diagnosis, but due to persistent hip arthritis, transitioned to adalimumab (2017). Repeat MRI after 5 months on adalimumab showed no improvement in effusions or synovitis and noted worsening in bone erosions and edema, and he therefore was changed to secukinumab in addition to receiving an intra-articular steroid injection (2018). Repeat MRI in 2018 showed improvement in inflammation, and MRI in 2019 showed resolution of synovitis. Patient has remained in remission on secukinumab.",
"gender": "Male"
},
{
"age": 16,
"case_id": "PMC10515513_04",
"case_text": "A 16-year-old girl presented at 5 years of age with pain, swelling, and limited range of motion in her left knee, ultimately diagnosed with spondyloarthritis with sacroiliitis and uveitis. She was started on naproxen and her arthritis went into remission approximately 1 year later (2008) allowing for discontinuation of naproxen. In 2009, she developed bilateral uveitis, prompting treatment with topical prednisone drops and later initiation of methotrexate (oral in 2011 which was subsequently tapered resulting in disease flare and therefore transitioned to subcutaneous in 2013). She was noted to have persistent effusions of the bilateral knees despite dose increase in methotrexate (2016) and underwent bilateral knee injections. In 2017, MRI revealed bilateral sacroiliitis and she was started on adalimumab after failing scheduled naproxen with increased dose of subcutaneous methotrexate. She continued to have active sacroiliitis on adalimumab weekly (confirmed on MRI) and was transitioned to secukinumab (2019). Subsequently, her joint symptoms significantly improved and repeat MRI in 12/2020 showed no active sacroiliitis. However, patient was found to have a flare of uveitis on routine screening examination in 5/2020, and she was re-started on subcutaneous methotrexate with subsequent improvement in uveitis.",
"gender": "Female"
},
{
"age": 19,
"case_id": "PMC10515513_05",
"case_text": "A 19-year-old man was diagnosed at 10 years of age with HLA-B27-positive spondyloarthritis. He presented with a 5-year history of back pain and joint stiffness, as well as bilateral knee pain. He previously was treated with sulfasalazine (4/2016-8/2016), etanercept (2013-2014), and adalimumab (7/2015, increased to weekly 10/2015 due to ongoing disease activity). He underwent bilateral knee intra-articular steroid injections in 2015. Adalimumab was discontinued from 12/2017 to 4/2018 due to loss to follow-up with resultant flare of enthesitis. He was subsequently re-started on weekly adalimumab with sulfasalazine due to inability to obtain insurance approval for secukinumab in 4/2018, with continued enthesitis. He was ultimately transitioned in 2019 to secukinumab with marked improvement in his joint/back pain as well as a decline in his joint stiffness.",
"gender": "Male"
},
{
"age": 13,
"case_id": "PMC10515513_06",
"case_text": "A 13-year-old girl was diagnosed at 8 years of age with spondyloarthritis. She presented with low back pain and MRI (2016) showed sacroiliitis, leading to initiation of Humira as well as 2-week prednisone taper for ongoing pain. She responded well to Humira; however, due to development of lower extremity paresthesia and family history of Guillain Barre syndrome, she was transitioned to secukinumab in 11/2017 with resolution of neuropathic symptoms. She was able to taper off secukinumab in 4/2018 due to improvement in arthritis.",
"gender": "Female"
},
{
"age": 22,
"case_id": "PMC10515513_07",
"case_text": "A 22-year-old woman was diagnosed at 17 years of age with HLA-B27-positive spondyloarthritis. She presented with chronic hip pain, along with prior history of knee and elbow pain and swelling. Magnetic resonance imaging obtained 2/2016 revealed bilateral sacroiliitis for which she was started on etanercept, celecoxib, and tramadol. She underwent bilateral SI injections in 2016 with minimal relief. Due to persistent hip and low back pain, she was transitioned to adalimumab in 6/2016. Due to persistent pain, she was changed to secukinumab in 7/2016 along with prednisone taper with decrease in her stiffness and joint complaints. Magnetic resonance imaging 11/2016 showed resolution of sacroiliitis with persistent enthesitis with hip effusions bilaterally. The patient subsequently underwent right hip steroid injection 12/2016 for residual pain. Bilateral hip ultrasound in 12/2016 showed resolution of effusions.",
"gender": "Female"
},
{
"age": 13,
"case_id": "PMC10515513_08",
"case_text": "A 13-year-old girl with Type 1 Diabetes and Celiac Disease presented at 8 years of age with ankle and wrist arthritis, ultimately diagnosed with RF and Antinuclear antibody (ANA)-positive polyarticular JIA. She was started on subcutaneous methotrexate and etanercept was later added due to continued active arthritis. However, patient developed an allergic reaction to etanercept (4/2017), as well as to adalimumab (9/2017), and to abatacept (3/2018), requiring medication discontinuation. She underwent left knee intra-articular steroid injection (5/2018) and was started on tocilizumab (10/2018). Due to persistently active arthritis, she was switched to tofacitinib (3/2019) and underwent intra-articular steroid injection of multiple proximal interphalangeal (PIP) joints (6/2019, 2/2020). Despite this therapy, MRI obtained 3/2020 revealed active foot arthritis and she was transitioned to secukinumab (5/2020). Repeat MRI in 8/2020 showed improved but persistent foot synovitis while on secukinumab, and given her history of positive autoantibodies, she was transitioned to rituximab (10/2020) and leflunomide added (12/2020), with subsequent improvement in arthritis symptoms (no repeat MRI yet obtained).",
"gender": "Female"
},
{
"age": 16,
"case_id": "PMC10515513_09",
"case_text": "A 16-year-old girl was diagnosed with sacroiliitis at 13 years of age. Magnetic resonance imaging obtained at diagnosis revealed bilateral sacroiliitis with erosive changes as well as bilateral hip synovitis. She was started on adalimumab (11/2018). Due to worsening gait dysfunction, she was started on secukinumab (3/2019) and continued therapy for approximately 2 months along with scheduled indomethacin prior to discontinuation due to worsening bilateral hip synovitis and bilateral sacroiliitis on MRI (6/2019). She was transitioned to etanercept (6/2019-11/2019) and underwent bilateral hip and SI joint steroid injections (7/2019) with subsequent improved yet persistent hip arthritis and sacroiliitis on MRI (11/2019). She was then started on infliximab with methotrexate (12/2019). She underwent right hip replacement (5/2020) and later left hip replacement (7/2020). She was transitioned to tofacitinib (4/2021) due to insurance difficulties with infliximab, but has not yet had repeat MRI on tofacitinib.",
"gender": "Female"
},
{
"age": 17,
"case_id": "PMC10515513_10",
"case_text": "A 17-year-old boy presented at 11 years of age with tenosynovitis and polyarthritis, initially believed to have post-infectious arthritis, later diagnosed with HLA-B27-positive ERA. On initial diagnosis, he was started on scheduled naproxen (5/2015) before escalation to methotrexate due to worsening joint symptoms (6/2015). He was lost to follow-up from June 2015 to September 2016 prior to starting leflunomide (9/2016) upon presentation to clinic in the setting of active arthritis. Given persistent active arthritis, he was transitioned to secukinumab (4/2017) with improvement in his arthritis (decreased pain, decreased active joint count) noted after 3 months of treatment, but subsequently lost to follow-up again.",
"gender": "Male"
}
] |
PMC10515513
|
[
{
"age": 52,
"case_id": "PMC10629860_01",
"case_text": "A 52-year-old male with severe abdominal pain was presented to emergency in November 2021 after several days of increasing abdominal bloating, distension, and intermittent diarrhoea. The patient had a history of similar episodes in the past year and a half; however, previous investigations, including a colonoscopy after a positive faecal occult blood test in December 2019, noted some polyps but did not find any malignancies. At the time of admission to the hospital in November 2021, the patient's blood test results revealed mild microcytic hypochromic anaemia with low mean cell haemoglobin (MCH = 24 pg, reference range 27-34 pg) and low mean cell volume (MCV = 75 fL, reference range 80-100 fL) and elevated C-reactive protein (CRP = 160 mg/L, reference range <1 mg/L), while the gastroscopy appeared normal.\nA computed tomographic scan showed a thickened distant terminal ileum and small bowel obstruction (Fig. 1). Due to the patient's severe symptoms, a colonoscopy was performed shortly after and found a malignant-appearing lesion protruding from the terminal ileum extending into the cecum, consistent with cancer. Biopsies were taken and pathology confirmed colon cancer, specifically G1 low-grade adenocarcinoma arising from a tubulovilous adenoma with high-grade dysplasia. The patient underwent right hemicolectomy surgery by laparotomy, with the extraction of adjacent lymph nodes. Suspected malignant adhesions of the tumour to the abdominal wall and retroperitoneal soft tissue were noted. Involvement of two out of 20 lymph nodes led to the initial diagnosis of T4bN1M0 Stage-III colonic adenocarcinoma arising from the cecum (November 21) (Table 1).\nImmunohistochemistry on the biopsied tumour revealed proficiency in mismatch repair proteins, including MLH1, PMS2, MSH2, and MSH6. Further investigations using transcriptomic DNA microarrays identified mutations in proto-oncogenes, including KRAS, HRAS, and NRAS. Blood cancer markers of carcinoembryonic antigen were in the normal range (<8.5 mug/L). Immunocytochemistry on cancer cells with monoclonal antibodies of a range of 18 chemotherapy agents identified bevacizumab as the most potent agent in this case (30% vs. 15% ramucirumab vs. 0% for all other agents tested; Onconomics Plus Test by RGCC, Switzerland; https://rgcc-international.com/tests/onconomics-plus-rgcc/) (Table 1).\nThe patient recovered well with a soft abdomen, was back to usual activities and diet, and had normal bowel motions 1 week after surgery. The patient was advised by his oncologist in December 2021 on follow-up chemotherapy and subsequent resection of liver metastases. Suggested chemotherapy would have involved FOLFOX for 6 months or 3 months of CAPOX, but the patient declined chemotherapy. Around the same time, the patient sought advice on other treatment options and discussed an integrative treatment approach (Table 1).\nThe integrative treatment approach included a package of (a) intravenous nutrients and herbs such as high-dose vitamin C, curcumin, quercetin, and artemisinin, (b) anti-angiogenesis therapy with IV bevacizumab, (c) the Repurposing-Drugs-in-Oncology (ReDO) protocol combining daily oral intake of 16 repurposed prescription medications and nutrients and herbs, and (d) EMF, Rife frequency treatment. Tables 1, 2 and online supplementary Tables S1-S2 (for all online suppl. material, see https://doi.org/10.1159/000534628).\n Table 2 outlines the treatment details, including dosages, frequency, duration, and total number of treatment sessions. Online supplementary Table S1 lists the EMF frequencies used in this case study. Online supplementary Table S2 provides mechanisms of action and references for the 17 medications and supplements used in the ReDO protocol.\nThe integrative therapies were provided in two stages, with the first 16-week long treatment stage (December 2021-May 2022), including IV therapies and the ReDO protocol, while EMF therapy was added to the treatment regime at a later stage (Table 1). During the first treatment period, 3 months after initial diagnosis, the patient underwent a restaging MRI scan, which revealed numerous (n = 5) metastases in the liver, mostly subcapsular and confined to the right lobe. The diagnosis was updated to metastatic colon cancer T4bN1 stage-IV (February 23, 2022) (Fig. 2 left, panel/before treatment).\nEMF, also known as \"Rife frequency therapy\" or \"pulsed electromagnetic field therapy,\" was added to the treatment regime after 4 months of integrative therapies, to target the metastatic liver lesions. EMF therapy was provided as part of a research study (www.anzctr.org.au ACTRN12620000986976) using the Spooky-2 Frequency Generator with a plasma bulb. EMF uses low-energy waves in the radio frequency spectrum up to 5 MHz, and frequencies were chosen from the Spooky-2 database to target colon cancer, liver cancer, and digestive system cancer (www.spooky2.com) (Fig. 3 and online supplementary Table S1).\nTo assess the treatment effect of EMF, we used the circulating tumour cell (CTC) blood test, also known as liquid biopsy, to compare CTC count before and after EMF/Rife frequency treatment. We specifically utilised the cytology-based internationally validated ISET (Isolation by SizE of Tumour)-CTC system developed by Rarecells Diagnostics (www.rarecells.com). CTCs are useful biomarkers to assess cancer risk and stage, with higher CTC counts indicating a greater risk of seeding further metastases distant from the primary tumour.\nIn this case study, the CTC count in a sample of 10 mL of blood taken immediately before Rife treatment was compared to the CTC count 1 day after Rife treatment. CTC analysis revealed that the frequencies used for EMF treatment were effective in reducing the CTC count by 75% and therefore metastasising potential. Subsequently, EMF/Rife frequency therapy was included in the treatment regime, and the patient received 2-3 Rife frequency treatments weekly over the next 4 months to a total of 40 sessions.\nA check-up was performed in July 2022, after 8 months of integrative therapies and including four months of EMF/Rife frequency treatment following the updated diagnosis of metastatic colon cancer T4bN1 stage-IV (February 23, 2022), and revealed substantial tumour response to treatment. While five lesions of 6-12 mm in size in the liver were visible on the MRI on February 23, 2022, the follow-up MRI on July 22, 2022, showed only one remaining visible lesion of reduced size (12 mm->9 mm) in segment 7 of the liver. Figure 2 illustrates comparative MRI scans of the liver at time of diagnosis before and after treatment. Furthermore, a positron emission tomography scan provided no evidence of metabolically active disease recurrence or metastasis.\nIntegrative therapies continued until September 2022, plus additional weekly injections with mistletoe (Helixor) and normobaric oxygen therapy for a month (5 L/min for 1 h) (Table 2). A follow-up low CTC count in October 2022, 11 months after initial diagnosis, supported the findings of a substantial tumour response to treatment. The patient tolerated the integrative therapies well, did not experience any adverse effects of the integrative treatment regime, and enjoyed an overall high level of wellbeing without restrictions in social or physical activities.\nThe partial remission of metastatic colon cancer with liver lesions achieved by primary tumour resection and an 8-month treatment regime of integrative therapies remained stable half a year later (March 2023), evident by a follow-up MRI scan of the liver, suggesting a long-term treatment effect. The CARE checklist was completed by the authors for this case report, attached as online supplementary material.",
"gender": "Male"
}
] |
PMC10629860
|
[
{
"age": 85,
"case_id": "PMC10570792_01",
"case_text": "We present the case of an 85-year-old male who attended our emergency department with shortness of breath. The patient had a medical history of hypertension, dyslipidemia, obesity, chronic kidney disease, chronic obstructive pulmonary disease, ischemic heart disease, and atrial fibrillation. He presented his first episode of HF with preserved ejection fraction (HFpEF) two years earlier. At that moment, screening of amyloidosis was performed, and no secondary etiologies of HFpEF were found.\nHis treatment included amiloride/hydrochlorothiazide 5/50 mg/24 h, furosemide 120 mg/24 h, and dapagliflozin 10 mg/24 h.\nOn physical examination, he presented jugular venous distension, bilateral pulmonary crackles and bilateral edema above the knees. He was hemodynamically stable, showing a blood pressure of 140/60 mmHg, a heart rate of 71 beats per minute, and an oxygen saturation of 93% without oxygen therapy. At the moment of admission, his weight was 112 kg.\nBlood tests showed elevated NT-proBNP (926 pg/ml) and worsening kidney function: creatinine 2.15 mg/dl (estimated glomerular filtration rate: 27.1 ml/min/1.73 m2, previous value 45.5 ml/min/1.73 m2). Chest x-ray revealed mild bilateral pleural effusion.\nEchocardiography confirmed mild global hypertrophy of the left ventricle, preserved ejection fraction, diastolic dysfunction grade II, severe dilated left atrium, without pulmonary hypertension. The inferior vena cava was enlarged (21 mm), and lung B-lines were found in 6/8 fields.\nElectrocardiogram revealed atrial fibrillation at 90 beats per minute and right bundle branch block.\nThe patient was admitted with the diagnosis of decompensated HF, and diuretic treatment was initiated following the 2021 ESC Heart Failure Guidelines.\nAn intravenous bolus of 120 mg furosemide (same dose taken orally at home) was administered.\nThe initial diuretic response was partially adequate (diuretic rate, 133 ml/h; urinary sodium, 56 mEq/L). However, congestion signs persisted, and the goal of 3,000 ml of diuresis per day was not achieved. Therefore, the furosemide dose was increased to 200 mg/12 h, and a sequential nephron blockade with chlorthalidone (50 mg/24 h) and dapagliflozin was implemented.\nDespite this diuretic scalation, diuretic response didn't improve (Figure 1), so we decided to administer a combination of intravenous furosemide with hypertonic saline solution (Table 1) to improve tissue congestion. Subsequently, the patient presented a progressive increase in daily diuresis rate (>3,000 ccs every 24 h), an improvement in kidney function (creatinine 1.8 mg/dl), and a weight loss of 1-2 kg per day (8 kg on day 11).\nDespite this, the patient persisted with edema up to the knee; therefore, two new classes of diuretics (acetazolamide and spironolactone) were added, without a significant improvement in diuretic response. On day 20, the patient persisted with signs of tissue congestion and signs of intravascular depletion (IVC diameter from 20 mm on admission to 14 mm, which collapses >50%).\nTherefore, we decided to apply crepe bandages to the lower limbs from the feet to the knees. The initial bandage was removed after 24 h, and a new one was placed.\nAfter 72 h of combined diuretic and leg venous compression (LVC), the patient lost 3 kg of weight, the edema resolved, and the kidney function improved. A slight increase in NT-proBNP and in the IVC diameter (from 14 to 17 mm after 24 h) was observed as an indirect sign of intravascular repletion. After achieving euvolemia, we could switch to oral therapy and discharge the patient. After six months of follow-up in our HF multidisciplinary program, the patient is asymptomatic, with no further decompensations.",
"gender": "Male"
}
] |
PMC10570792
|
[
{
"age": 46,
"case_id": "PMC10829058_01",
"case_text": "A 46-year-old, right-hand-dominant delivery driver presented to our chiropractic clinic with a 10-day history of severe, progressive neck pain. The patient reported experiencing sudden-onset neck pain while at work, which was initially rated 8/10 in severity on a numerical pain scale. This pain disrupted his ability to drive and perform his occupational duties, such as loading packages. Over the first week, the pain worsened and became constant. Approximately five days after the initial pain onset, the patient noticed the development of dystonic posturing in the affected area. Therefore, the dystonic posturing manifested around five days after the initial pain onset. Additionally, the pain spread to the right shoulder and arm, leading to radicular symptoms affecting the right upper extremity.\nBefore his visit, he consulted his general practitioner, and cervical radiography identified cervical degenerative joint disease at the C5/6 level (Figure 1). The individual had controlled hypertension but an otherwise unremarkable past medical history. He denied any recent trauma or injury. Prior medical treatment included a trial of 300 mg gabapentin thrice daily and ibuprofen 400 mg as needed, without relief of symptoms. Due to intractable pain, rated 10/10 in severity on presentation, the patient had been unable to work for 10 days before the chiropractic consultation.\nThe patient presented to the chiropractic clinic with a dystonic posture, holding his neck with his right hand, and exhibiting a 5-degree right lateral flexion of the neck. Dystonic tremors with inconsistent patterns were identified in the right rotator cuff muscles. Specifically, these tremors are a type of involuntary, rhythmic muscle contractions that result in twisting, jerky movements of the right shoulder. The frequency and intensity of tremors were exacerbated during elbow extension and wrist extension. The tremors could have affected the patient's ability to perform routine tasks that involve the use of the shoulder joint, such as lifting objects or moving the arm in particular directions. The active range of motion of the cervical spine was significantly restricted in multiple planes. Flexion and rotational movements caused significant discomfort, with flexion limited to approximately 50% of the normal range and extension limited to approximately 60%. Right lateral cervical flexion induced severe pain, with a range of motion limited to approximately 30%. Additionally, there was a restriction of approximately 40% in the rotational range of motion. These limitations in range of motion were associated with varying degrees of pain and discomfort. During the examination, positive findings on Spurling's test, cervical distraction test, and upper limb tension test indicated cervical nerve root compression. Motor examination revealed diminished strength in the right C5 distribution (2/5) and at the C6 and C7 levels (4/5) due to pain. Sensation and reflexes were intact. Notably, the patient presented with cold extremities and elevated blood pressure measuring 145/90 mmHg.\nThe restricted range of motion in the cervical spine, particularly in flexion, rotation, and lateral flexion, was closely related to the patient's radicular symptoms and dystonic posturing. These limitations in range of motion and associated discomfort indicated mechanical compression and irritation of the cervical nerve roots, leading to radiating pain, weakness, and diminished strength in the right upper extremity. Positive findings on Spurling's test, cervical distraction test, and upper limb tension test further supported the presence of cervical nerve root compression. The dystonic posturing observed was likely a protective response of the surrounding muscles, aimed at stabilizing the spine and relieving further compression. Additionally, the patient's cold extremities and elevated blood pressure suggested autonomic dysregulation associated with sympathetic cervical chain irritation and compressed nerve roots.\nBased on these clinical findings, the chiropractor ordered an immediate cervical magnetic resonance imaging to identify the integrity of the nervous system. The medical radiologist revealed a degenerative osteophyte complex at the C5/6 level causing impingement of the right C6 exiting nerve root (Figure 2). Furthermore, there was slight impingement observed on the bilateral C7 exiting nerve roots at the C6/7 level. Electromyography confirmed a neurogenic abnormality consistent with C6/7 radiculopathy. Notably, manual cervical distraction maneuver induced intolerable pain, prompting an immediate referral to the district hospital for specialized pain management. These diagnostic findings provided objective evidence for the compression and impingement of the cervical nerve roots, explaining the patient's radicular symptoms and the need for further intervention.\nThe computed tomography-guided right C6 and C7 root block procedure was performed by the spine surgeon. The procedure involved the administration of a local anesthetic to provide targeted pain relief. The anesthetic was injected at the specific location of the right C6 and C7 nerve roots, guided by computed tomography for precise placement. This technique ensures accuracy and effectiveness in delivering the medication directly to the affected nerves. The root block procedure resulted in a comprehensive alleviation of all symptoms, including the resolution of the dystonic tremor. As a result of the successful procedure, the patient was hospitalized for seven days to closely monitor their condition and ensure pain stabilization. During this time, the pain level decreased to 7/10, and the patient's blood pressure returned to normal. The root block procedure demonstrated its effectiveness in providing temporary relief and improving the patient's overall well-being.\nAfter discharge, the patient returned to the chiropractic clinic for conservative management. While chiropractic manipulative therapy can be effective in managing musculoskeletal conditions, there are potential risks and side effects such as temporary soreness or discomfort after treatment, the risk of exacerbating existing conditions, and the rare possibility of injury to the spine or nervous system. As the patient tolerated the manual cervical distraction tests, the chiropractic treatment plan included daily cervical manipulative therapy, diversified technique, for the first week alongside his existing medications. This approach led to a remarkable reduction in the pain intensity to 5/10, allowing the patient to resume his regular work schedule after the first week. Following this, the treatment frequency was decreased to thrice weekly for the subsequent three weeks, and mechanical spinal decompression therapy (Spine MTK-1, Shinhwa Medical, Busan, Republic of Korea) was incorporated into the regimen. The patient discontinued all medications during the second week of chiropractic care. This comprehensive, conservative approach ultimately led to the complete and sustained resolution of his right-sided brachialgia and dystonic tremor.",
"gender": "Male"
}
] |
PMC10829058
|
[
{
"age": 32,
"case_id": "PMC10959585_01",
"case_text": "Our patient was a 32-year-old female with a history of chronic kidney disease due to chronic tubulo-interstitial nephropathy. A diagnosis of Senior-Loken syndrome is highly suspected due to the patient's associated congenital and bilateral blindness in a context of first-degree parental consanguinity. After a 4-year gap in her follow-up, she presented at our center in end-stage renal disease requiring renal replacement therapy. Peritoneal dialysis was not considered due to the patient's morbid obesity (BMI = 45 kg/m2), blindness, and precarious socio-economic situation. Kidney transplantation was not an option as no donor was available. Hemodialysis was initiated via a left cephalic fistula. After 87 months of dialysis, the patient had experienced at least 6 vascular access complications, all resulting in thrombosis (Figure 1). An antithrombin III deficiency was diagnosed, and the patient was treated with long-term vitamin K antagonists (VKA). After her right axillary graft thrombosis, a thrombectomy via a Fogarty catheter failed and the patient was addressed to our center. A vascular cartography showed multiple stenosis and signs of acute and chronic thrombosis in all deep and central veins, making impossible any attempt to place a new catheter. Our patient survived 12 days without dialysis with a strict dietary and fluid intake before the ATDC was finally placed as a last resort vascular access by the heart surgery team. The intervention was performed under general anaesthesia, with the patient in a supine position. An anterior right thoracotomy was done at the second right intercostal space. After opening the pericardium, the right atrium was directly punctured under visual control. A tunneled catheter of 40 centimeters of length was then placed in this atrium and attached to the skin (Figures 2 and 3). After purging the catheter, haemostasis of all tissues was done and the closing of the thoracotomy was performed plan by plan, by setting up a thoracic drain which was maintained in aspiration.\nThe post-operative course was marked by a CRBI with no identifiable microorganisms found in both the catheter and peripheral blood cultures. Treatment with a three-week course of broad-spectrum antibiotics led to favorable outcomes. It is noteworthy that anticoagulation therapy with VKA was temporarily discontinued after catheter placement due to the presence of a circumferential pericardial effusion but was reinstated one week later after multiple and prolonged hemodialysis sessions and a trans-thoracic echocardiography showed no evidence of the effusion. Two weeks after catheter placement, a low flow in both catheter lumens was noted, and the dialysis session was interrupted due to the absence of blood flow in both streams. The failure of aspiration and flush through the catheter and a wire guide failure to pass through the venous lumen further suggested thrombosis. Thrombolysis using Alteplase was performed by the cardiac surgery team under local anesthesia. The procedure began with a systemic injection of a heparin bolus at a dose of 0.5 milligrams per kilogram. An opacification was then performed by injecting iodinated contrast product via the tunneled catheter, which confirmed a thrombosis of the latter a few centimeters before its insertion in the cardiac cavity with a patent distal end. A hydrophilic guidewire of 0.035 inches in diameter and 150 centimeters in length was introduced via the tunneled catheter and guided towards the right atrium under scopic control. A five French Cobra catheter was then introduced over the guidewire and placed on the right atrium, with the guidewire being removed while taking care to keep the Cobra catheter in place, all under scopic control. The Alteplase solution, consisting of a 50 milliliters vial of solvent mixed with a 50 milligrams vial of Alteplase powder, was injected via the Cobra catheter, first in the right atrium, then along the lumen of the tunneled catheter, by gradually withdrawing the Cobra catheter under scopic control. The total quantity injected was 50 milligrams of Alteplase, equivalent to 29 million international units (MUI). After a three-day dwell time, the catheter was functional again, allowing the patient to start dialysis sessions once again. A heparin lock-solution was used systematically at the end of each session, and the patient was discharged after a week of observation.",
"gender": "Female"
},
{
"age": 22,
"case_id": "PMC10959585_02",
"case_text": "A 22-years-old male patient followed from a young age for an ESRD secondary to a chronic tubulo-interstitial nephropathy complicating a CAKUT (ureteropelvic-junction obstruction and vesicoureteral reflux) was referred to the nephrology department of La Rabta Hospital at the age of 20 for an exhausted vasculature, 53 months after dialysis start. During this period, numerous tunneled and non-tunneled central venous catheters were inserted and a total of two AVFs and three arterio-venous grafts (AVGs) were created, all complicated with thrombosis. CT-venography revealed a chronic thrombosis in both subclavian and femoral veins respectively extended to the superior and inferior vena cava. Further investigations found no evidence of a congenital or acquired thrombophilia. At first, peritoneal dialysis (PD) was chosen as a RRT. Later, due to a menacing hyperkalemia and volume overload, a tunneled femoral catheter (TFC) was emergently inserted by surgical mean and the patient started a regimen combining PD and once-weekly hemodialysis. A year later, the TFC was removed due to a dysfunction caused by a severe CRBI. Peritoneal dialysis proved ineffective due to freent volume overload state further worsened by anuria. Ultimately, he developed a severe septicemia requiring broad-spectrum antibiotics alongside hyperkalemia, volume overload and an acute anemia. The urgent need to start hemodialysis prompted the decision to insert an ATDC as a last resort vascular access as described above. A post-operative and extended hemodialysis session was successfully performed, accompanied by a red-cell blood transfusion. One month later, the patient developed septicemia characterized by chills and fever during hemodialysis. Despite no pathogens being identified, the patient had a favorable outcome after a three-week course of broad-spectrum antibiotics. Nine months later, the peritoneal catheter was removed due to severe peritonitis. After 29 months of follow-up, the catheter remained functional with the ability to undergo three hemodialysis sessions per week and had a satisfactory blood flow. No incidents or complications have been reported since discharge from the hospital.",
"gender": "Male"
}
] |
PMC10959585
|
[
{
"age": 82,
"case_id": "PMC10781523_01",
"case_text": "An 82-year-old Thai woman with a history of hypertension, type 2 diabetes mellitus, hypothyroidism, aortic valve replacement, and endometrial cancer presented with fever and abdominal pain for 3 days at the emergency department. The patient was admitted to the hospital and diagnosed with acute cholecystitis, for which she underwent open cholecystectomy the same day, and received postoperative ceftriaxone (2 g intravenously daily) and omeprazole (40 mg intravenously daily). On Day 2 of hospitalization, ceftriaxone was switched to meropenem due to suspected breakthrough infection. On Day 4 of hospitalization, she had a fever, facial erythema, and edema, as well as a generalized maculopapular rash on the extremities. The timeline of drugs administration and the appearance of skin manifestations is illustrated in Figures 1 and 2, respectively. Blood work revealed mild transaminitis (aspartate transaminase level, 61 U/L) and a slightly increased white blood cell count with eosinophilia (9,870 cells/mm3, eosinophils 8%). Renal function was normal (serum creatinine, 1.1 mg/dL). Based on the RegiSCAR scoring system, the patient received a total of two points, indicating a possible diagnosis of DRESS syndrome, including fever (>=38.5 C) = 0, eosinophilia = 1, extension of skin rash (>50%) = 1, and internal organ involved = 1.\nAt the time of the initial diagnosis of DRESS, meropenem was suspected to be the culprit agent due to prior reports indicating antibiotics may cause rapid DRESS. Meropenem was consequently promptly discontinued. An allergist was consulted, and they suggested and expressed doubt that meropenem was the culprit agent, citing the short interval between exposure and the onset of symptoms. The progression of the skin rash was additionally documented, which could have been attributable to the persistence of the actual causative agent. Omeprazole was considered as the other likely culprit agent and was discontinued on Day 7 after admission. To confirm the suspected omeprazole-induced DRESS syndrome, an enzyme-linked immunosorbent spot (ELISpot) assay was performed, and the results supported this hypothesis (Table 1). As part of the treatment, the patient was prescribed oral prednisolone at a dose of 15 mg for 5 days. A histamine type-2 receptor antagonist (H2RA) was used for peptic ulcer prophylaxis in place of omeprazole. A gradual resolution of the skin rash, the eosinophilia, and the transaminitis were documented. Prednisolone was tapered at 5 mg every 3 days and then it was continued. On Day 10 of hospitalization prior to discharge, her clinical manifestations of DRESS syndrome had resolved including normalization of the eosinophil count.\nCase reports and related articles reporting on PPI-induced DRESS published between January 2005 and July 2023 were retrieved through keywords searching of the electronic database MEDLINE /PubMed (last search attempted 6 July 2023), as shown in Table 2.\nA total of 21 cases were identified in which PPIs were associated with DRESS syndrome. Amongst these cases, the majority was female with mean +- SD age of 62.0 +- 11.3 years. The most commonly identified culprit drug was esomeprazole (11/21, 52.4%), followed by pantoprazole (4/21, 19.1%) and omeprazole along with lansoprazole (both 3/21, 14.3%). Table 3 provides information on the clinical and internal organ involvement observed in these cases. Cross-reactivities between each case's reported culprit PPI and other PPIs are shown in Table 4.",
"gender": "Female"
}
] |
PMC10781523
|
[
{
"age": 4,
"case_id": "PMC11408195_01",
"case_text": "A 4-year-old girl presented with a cough for 10 days and a fever for 4 days. Her cough was mild for the first 6 days. Then, on the sixth day after the onset of the disease, it became severe, scoring 7 on the visual analog scale (VAS). Concurrently, she had a fever with a peak temperature of 39.2C. She did not report any other symptoms. At that time, her neighborhood was experiencing an MPP outbreak. A local hospital doctor prescribed her oral azithromycin for 3 days, but her body temperature remained between 38C and 39C, and the cough score had not decreased. She vomited once before coming to our hospital.\nShe had a history of bilateral renal dysplasia, vesicoureteral reflux, atrial septal defect, and Zhu-Tokita-Takenouchi-Kim syndrome, but no congenital abnormalities of the pancreaticobiliary system were noted. Her kidney function was normal. She had no history of infectious diseases or exposure to infected individuals. Her parents confirmed that she had no contact with sick or dead poultry. She had a history of positive skin tests for penicillin and ceftriaxone, indicating an allergy. She was allergic to formula milk and had no reported history of allergies to other foods or medications. She was born full-term via cesarean section without any history of birth injury or asphyxia; her birth weight was approximately 2.5 kg. Her physical development, particularly in sports, was delayed. Her father had a history of allergic rhinitis and her mother was in good health. Her parents reported no family history of hereditary diseases.\nThe physical examination revealed a height of 96 cm, a weight of 13 kg, a body temperature of 37.7C, a respiratory rate of 26 beats per minute, and a blood pressure of 98/54 mmHg. Pharyngeal congestion, grade I enlargement of both tonsils without exudation, slight dry rales in both lungs, and cardiac auscultation showed no abnormalities. Her abdomen was flat and soft, without tenderness, and no hepatosplenomegaly was detected.\nAt the time of admission, initial laboratory tests revealed a hemoglobin of 10.5 g/dl, a white blood cell count of 3,800/mm3, comprising 55.7% neutrophils and 37.0% lymphocytes, and a platelet count of 207 x 103/mm3. C-reactive protein was 6.09 mg/L. Electrolyte and biochemistry laboratory tests showed that the levels of amylase, lipase, alkaline phosphatase, lactate dehydrogenase, triglyceride, and blood glucose were within the normal range. Polymerase chain reaction (PCR) for respiratory viruses, including adenovirus, influenza, respiratory syncytial virus, and coronavirus, was negative, as was sputum culture. Deep sputum aspiration was performed to detect MP nucleic acid, and the result was positive. The IgM antibody for MP, measured by chemiluminescence, was positive (1.13 COI, reference range <=1.10 COI). She was treated with intravenous erythromycin for the infection. On the second day after admission, her body temperature remained high, and lung computed tomography (CT) showed scattered, patchy, high-density blurred shadows in both lungs, without thick pleural or pleural effusion observed in the chest cavity (Figure 1A). Therefore, she was given anti-inflammatory and immunomodulatory treatment with methylprednisolone sodium succinate. Unfortunately, after 1 day of treatment with methylprednisolone sodium succinate (the third day after admission), her blood glucose level rose to 15 mmol/L and her urine glucose test was positive. Therefore, the administration of methylprednisolone sodium succinate was discontinued. Subsequently, her blood glucose level gradually returned to normal.\nShe developed abdominal pain on the fourth day after admission without vomiting, diarrhea, dyspnea, or tachypnea. Physical examination showed tenderness in the left upper abdomen accompanied by mild abdominal muscle tension. Laboratory studies showed a serum lipase of 1,193 U/L (normal range, <15-116 U/L) and amylase of 625 U/L (normal range, 13-60 U/L). Meanwhile, urinary amylase also increased to 8,827 U/L (normal range, <750 U/L). Abdominal ultrasound and abdominal CT showed ascites and enlargement of the pancreas (Figures 1B,C).\nNo abnormalities of the liver or biliary system were noted. Fasting blood glucose, insulin, and glycated hemoglobin were all within the normal range. Laboratory tests revealed a hemoglobin of 11.3 g/dl, a white blood cell count of 5,800/mm3, comprising 72.8% neutrophils and 19.7% lymphocytes, a platelet count of 298 x 103/mm3, and C-reactive protein of 2.92 mg/L. Serum levels of interleukin (IL)-2, IL-6, IL-17A, tumor necrosis factor (TNF), and interferon-gamma (IFN-gamma), detected using a chemiluminescence method, were significantly increased (Table 1). The patient was immediately fasted and treated with an intravenous infusion. She received total intravenous nutrition and omeprazole treatment. She received treatment with methylprednisolone again, and this time, her blood sugar levels were normal. Three days later (the seventh day after admission), her abdominal pain symptoms significantly improved and she began to eat. The inflammatory cytokines, blood, and urine amylase levels gradually decreased (Table 1). Therefore, the increase in blood sugar after the initial use of methylprednisolone was due to stress-induced hyperglycemia. After using methylprednisolone again, rigorous blood sugar monitoring was conducted and found to be within the normal range.\nInterestingly, when she underwent an abdominal ultrasound examination 6 days after the onset of pancreatitis (the 10th day after admission), the intense echogenicity of the gallbladder changed for more than 10 days. Multiple tests for bilirubin and liver function were normal during her hospitalization. Perhaps MP, a biological organism with an affinity for cholesterol, caused this phenomenon in her body. After 12 days of treatment, she was successfully discharged from the hospital (Figure 2).\nA follow-up abdominal ultrasound showed no abnormalities on the sixth day after discharge. After her discharge, she continued to take prednisone tablets orally: 5 mg twice a day for 3 days, then changed to 5 mg once in the morning for 3 days, and finally changed to 2.5 mg once in the morning for 3 days before stopping the medication. The cough disappeared about 1 week after discharge, and there were no further digestive symptoms, such as abdominal pain or other complications. At 38 days after discharge, a follow-up examination of cytokines and an abdominal CT scan showed normal results. There had been no further abnormalities in blood sugar levels. The IgM antibody titer for MP was 4.79 COI, which had increased by more than four times.",
"gender": "Female"
}
] |
PMC11408195
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.