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{
"age": 35,
"case_id": "PMC10597597_01",
"case_text": "A 35-year-old male presented to the Cardiology Department following an episode of palpitations. He had no syncope, chest pain, or shortness of breath. He had no cardiovascular risk factors, but a personal history of presumed acute myocarditis at fifteen. No past family history of cardiovascular disease.\nIn the diagnosis workup, a 24-h ambulatory cardiac monitoring showed frequent polymorphic ventricular ectopic beats and one run of non-sustained ventricular tachycardia (NSVT). The transthoracic echocardiogram revealed a non-dilated left ventricle (LV), with a left ventricular ejection fraction (LVEF) of 53%, associated with slight hypokinesia of the mid-segment of the anterolateral and inferolateral walls, with reduced longitudinal strain (-11 and -14%, respectively, for a normal more than -18%).\nCardiac magnetic resonance (CMR) imaging showed normal-appearing right ventricle (RV); normal LV volumes, with a slightly reduced LVEF (51%); hypokinesia of the mid-segment of the inferior, anterolateral and inferolateral walls. An extended subepicardial circumferential pattern of late gadolinium enhancement of the LV (more than 20% of LV mass - Panel 1A) was noted, and also with the involvement of the right side of interventricular septum. On T2-weighted cine images, a hyperintensity with chemical shift artifact was noted, suggesting fat infiltration.\nGenetic testing was positive for a pathogenic heterozygous mutation in the DSP gene [NM_004415.3: c.7000C > T_ p.(Arg2334*)], which encodes desmoplakin (DSP).\nAccordingly, the presence of a pathogenic mutation, typical major structural criteria of the LV, and minor RV involvement, fulfil the criteria of arrhythmogenic left ventricular cardiomyopathy (ALVC). Furthermore, DSP gene mutations are associated with a peculiar phenotype characterised by a continuous process of acute myocardial injury, known as \"hot phases,\" which can mimic recurrent episodes of acute myocarditis. In fact, these \"hot phases\" represent a focal spontaneous necrotic phenomenon of the myocardium followed by an auto-immune response and a complex inflammatory reaction. We raise the possibility that it was what happens at the age of 15. Then, genetic testing for arrhythmogenic cardiomyopathy might be advisable for selected patients with repeated episodes of myocardium inflammation.\nMutations in DSP, the primary force transducer between cardiac desmosomes and intermediate filaments, were first described as a cause of an arrhythmogenic form of predominantly right cardiomyopathy by Rampazzo A et al. and Bauce B. et al.. Lately, DSP mutations have also been identified in left-dominant forms and correlated with a high incidence of ventricular arrhythmias, making palpitations the most common symptom at presentation. The arrhythmic risk depends on the progressive fibrofatty myocardial replacement, which may present a peculiar circumferential involvement of the LV (\"ring pattern\").\nThe current management of ALVC includes exercise restriction, beta-blocker therapy, consideration for implantable cardioverter-defibrillator (ICD), and/or catheter ablation. Our patient complies with high-intensity exercise restriction and maximum tolerated dose of beta-blocker. During follow-up, a seven-day external cardiac loop recorder detected an increase in the frequency of ventricular ectopic beats (>1000 per 24 h) and an episode of NSVT with eight complexes (Panel 1B). According to current criteria, this patient falls into the intermediate category of SCD risk, with an estimated event rate of 1%-10% per year - a strong recommendation for ICD implantation. Despite a clear explanation of the risk of sudden death and the importance of ICD as primary prevention, the patient continues to refuse it. Genetic investigation on his son is ongoing, which is essential for early diagnosis of a possible carrier and implanting preventive strategies.",
"gender": "Male"
}
] |
PMC10597597
|
[
{
"age": 31,
"case_id": "PMC10481984_01",
"case_text": "Case 1: A 31-year-old-male presented to us with a chief complaint of progressive ptosis of the left eye (LE) since 1 year ago. He denied any history of trauma, previous surgery, and infection. Furthermore, there was no history of pain, impaired visual acuity, paresthesia, or diplopia. In inspection, protrusion of the supra-temporal area of the left upper lid and inferior displacement of the globe were seen [Figure 1]. In the clinical examination, a 1 cm x 1 cm mass was palpated in the left lacrimal fossa and no proptosis was found. Margin reflex distance to the upper lid was measured 4 mm for the right eye (RE) and 2 mm for the LE. Margin reflex distance to the lower lid was measured 6 mm for both eyes. His best-corrected visual acuity (BCVA) was 20/20 in each eye. Pupils were round and reactive and there was no relative afferent pupillary defect (RAPD). Intraocular pressure (IOP) and extraocular movements of both eyes were normal. Anterior segment examination and dilated fundoscopic examination (DFE) of both eyes were unremarkable. Orbital CT scan showed a cystic lesion in the superotemporal orbit with erosive bony expansion to the superotemporal orbital wall [Figure 2a-c]. An excisional biopsy was planned. Intraoperatively, a 10 mm x 10 mm x 5 mm lesion in the lacrimal fossa and bone pitting of the adjacent orbital rim was seen. Nearby orbital fat seemed infiltrated. The lesion was excised and sent to the pathology laboratory. Histopathological analysis revealed fibroconnective tissue with cholesterol clefts surrounded by granulomatous inflammation with a predominance of foreign body giant cells and blood-derived debris and absence of endothelial lining [Figure 2d]. Postoperation, the ptosis and globe displacement was resolved [Figure 1]. There was no recurrence after 6 months.",
"gender": "Male"
},
{
"age": 35,
"case_id": "PMC10481984_02",
"case_text": "Case 2: A 35-year-old male presented with progressive proptosis of the RE since 5 months ago. There was no history of past medical disease. Further, no history of trauma, previous surgery, or symptoms of infectious disease, and no accompanying symptom was reported. The BCVA of both eyes was 20/20. Pupils were round and reactive and there was no RAPD. IOP was measured 19 mmHg for the RE and 18 mmHg for the LE. Examination revealed 4 mm of proptosis and hypoglobus and limitation of up gaze [Figure 3]. Slit-lamp examination and DFE of both eyes were normal. Orbital CT scan showed an 8 mm x 11 mm intraorbital well-demarcated mass in the supratemporal area with expansion to the frontal and temporal bone and posterior pressure on the globe [Figure 4a-c]. In orbital MRI a hyperintense intraorbital mass was seen in T1 and T2 weighted images placed in the supratemporal area of the orbit and posterior to the globe [Figure 4d and e]. An anterolateral orbitotomy was performed and an 8 mm x 12 mm cyst containing yellow-brown fluid was excised. Histopathology report demonstrated cholesterol clefts surrounded by granulomatous inflammation, foreign body giant cells, hemosiderin deposition, blood-derived debris, and fibrosis. There were no epithelial components and endothelial lining [Figure 4f]. No recurrence occurred after 2 years.\nInformed written consent has been obtained from the patients for the publication of their pictures, clinical examinations, and orbital imaging.",
"gender": "Male"
}
] |
PMC10481984
|
[
{
"age": 22,
"case_id": "PMC10831287_01",
"case_text": "A gravida 0 para 0 22-year-old healthy woman, without relevant medical history, presented at our hospital with gradually worsening lower left abdominal pain that began 1 day prior. The patient had no smoking or drinking habits and no travel record, but she had eaten raw chicken approximately 7 days prior. She had sexual intercourse with her male partner, and her last menstruation occurred 2 weeks prior (regular cycle). On admission, she was alert. She had a fever of 39.6 C, 108/63 mmHg blood pressure, 125 beats/min heart rate, oxygen saturation (on room air) of 98 %, and respiratory rate of 18 cycles/min, and displayed lower abdominal and rebound tenderness. The patient did not exhibit any redness or swelling of the throat, and there were no skin lesions or rashes. Initial laboratory examinations revealed an increased white blood cell count (12 x 103/mm3, standard value 3.3-8.6 x 103/mm3) and an elevated C-reactive protein (CRP) level (18 mg/dL, standard value 0-0.14 mg/dL). Blood culture results were negative. Contrast-enhanced computed tomography (CT) revealed a localized thickened peritoneum in the left lower abdomen (Fig. 1A). The patient was given conservative treatment without antimicrobial therapy and was closely monitored in the ward.\nOn hospitalization day 5, chest pain occurred with continued fever. A second contrast-enhanced CT scan revealed a generalized thickened peritoneum, increased ascites, and bilateral pleural effusions (Fig. 1A). Samples for blood culture were collected once again. Overnight, respiratory and circulatory failure developed, and on the morning of the day 6 she was immediately transferred to the intensive care unit (ICU) for intubation for hypoxemia. Epinephrine, norepinephrine, and arginine vasopressin were administered to treat severe shock. Laboratory examinations revealed a normal hemoglobin level (12 g/dL, standard value 11.6-14.8 g/dL), a normal white blood cell count (6.3 x 1003/mm3), a remarkably decreased platelet count (6.8 x 104 /mm3, standard value 15.8-34.8 x 104 /mm3), a remarkably elevated CRP level (43 mg/dL), an increased blood urea nitrogen level (40 mg/dL, standard value 8-20 mg/dL), an elevated creatine level (2.2 mg/dL, standard value 0.5-0.8 mg/dL), an increased interleukin-6 level (4.0 x 104 pg/mL, standard value <7 pg/mL), and an elevated vascular endothelial growth factor level (1.4 x 103pg/mL, standard value <38 pg/mL). Systemic inflammation, thrombocytopenia, and renal failure had occurred. Given septic shock with unknown foci or TAFRO syndrome as a differential diagnosis, we initiated intravenous meropenem and methylprednisolone. Re-examined blood cultures from the day 5 and gram staining of ascites and bilateral pleural effusions yielded gram-positive cocci in chains. The isolate was also identified as GAS from blood cultures (Table 1). The patient was diagnosed with STSS complicated by primary peritonitis and bilateral empyema.\nFig. 2 shows the main clinical and therapeutic courses. Intensive care including three vasopressors, invasive positive pressure ventilation, and renal replacement therapy continued, Antibiotics changed to penicillin G plus clindamycin, with the intravenous immunoglobulin. We performed thorough drainage; the refractory bilateral empyema required continuous drainage and surgical intervention on the day 18. Peritonitis was treated surgically on the day 11, followed by continuous drainage (Fig. 1B). The patient's condition gradually improved, and she was discharged from the ICU on the day 27. After rehabilitation, she was discharged with full recovery on the day 77.\nMass spectrometry identified the isolate as GAS (Score value 2.259), with a positive reaction for pyrrolidonyl arylamidase production. Table 1 summarizes phenotypic/genotypic traits of the blood-origin isolate (sample ID AB1) and ascites-origin DNA (sample ID AB2). Both samples with identical sequences (718-bp) were identified as GAS based on 16 S rRNA sequencing data, indicating identity with the GAS JCM 5674(T) sequence. Phenotypic analyses included hemolysis, Lancefield carbohydrate antigen, pyrrolidonyl arylamidase production reaction, and antimicrobial susceptibility testing. Genotypic analyses included sagA (111-bp fragment) and slo (548-bp fragment) encoding hemolysin amplification, emm type/subtype based on the hyper-variable region of 180 base, emm sequence, superantigen gene profile, sequence type (ST) (allelic profile; gki-g tr -murI-mutS-recP-xpt-yqiL) by multilocus sequence typing, and antimicrobial resistance (AMR) gene profile. The emm genotyping was based on the Centers for Disease Control and Prevention database (https://www2.cdc.gov/vaccines/biotech/strepblast.asp). The superantigen genes included speA, speB, speC, ssa, and smeZ detected. We used the PubMLST website (https://pubmlst.org/bigsdb?db=pubmlst_spyogenes_seqdef) to determine the ST. AMR genes included blaZ, erm(A), erm(B), mef(A), linB, lnu(D), tet(M), tet(O), tet(K), tet(L), and tet(S) detected. For genotypic analyses, we used the GAS American Type Culture Collection 12344(T) as a positive control.\nPhenotypic analyses revealed weak hemolysis, Lancefield carbohydrate antigen A, and susceptibility to antimicrobials. Genotypic analyses indicated amplified sagA and slo, emm103.0 [emm-cluster E3], emm long sequence of 784 base (GenBank accession numbers from AB1 and AB2: LC761208 and LC761209), speB alone, novel ST1363 (83-2-8-6-2-3-4), and no detection of AMR genes. Both samples showed the same genotypic data.",
"gender": "Female"
}
] |
PMC10831287
|
[
{
"age": 45,
"case_id": "PMC11165194_01",
"case_text": "A 45-year-old Chinese male, married with one son, non-smoker, and non-drinker, and with no significant past medical history, initially presented in 2019 with non-muscle invasive BC (NMIBC) ( Figure 1A ). TURBT was performed in June and August 2019, followed by three courses of intravesical Bacillus Calmette Guerin (BCG) therapy (September 2019 to May 2020). In July 2021, follow-up cystoscopy showed nodules in the bladder neck, and TURBT was repeated. Nodule biopsy and pathological examination indicated high-grade MIBC. Given the suspicion of nodal involvement or distant metastases, a position-emission tomography-computed tomography (PET-CT) scan was conducted. There was a 4.6 cm bladder base tumor extending into the bladder neck and prostatic urethra with bilateral multiple pelvic LN involvement. No evidence of distant metastasis was found ( Figures 1B, C ). Based on the findings, the patient had stage III, T4N2 MIBC.\nAfter extensive multidisciplinary discussions and consultations regarding treatment, the patient opted against the surgical approach. Consequently, the patient received four cycles of gemcitabine/cisplatin chemotherapy from the end of July to October 2021 (gemcitabine [1250 mg/m2] administered on Day 1 and Day 8, cisplatin [75 mg/m2] on Day 1, every 3 weeks). Post-chemotherapy PET-CT scans revealed a complete response in the tumor and involved LNs ( Figures 1D, E ). This was followed by cCRT (55Gy in 20 fractions) with weekly cisplatin (40mg/m2), which was completed in November 2021.\nIn January 2022, the patient started maintenance therapy with avelumab [BAVENCIO, Merck KGaA, Darmstadt, Germany] 10 mg/kg of body weight, administered intravenously every 2 weeks. Subsequent follow-up CT scans and the latest PET-CT scan in March 2024 have consistently shown no recurrence or distant metastasis. Additionally, a cystoscopy performed in August 2023 confirmed ongoing complete remission. The patient has now been on avelumab therapy for over two years and remains in complete remission. During treatment, the patient experienced self-limiting Grade 1 skin itchiness and fatigue, which did not impact daily activities. No immune-related adverse events were observed, and the patient's QoL was maintained.",
"gender": "Male"
},
{
"age": 57,
"case_id": "PMC11165194_02",
"case_text": "The second patient, a 57-year-old male, non-smoker and non-drinker who tested negative for hepatitis B virus surface antigen and was allergic to augmentin, was diagnosed with NMIBC in 2020. His past medical history included hypertension, diabetes mellitus, hyperlipidemia, and depression. His initial management involved TURBT and intravesical BCG therapy ( Figure 2A ). In June 2022, follow-up cystoscopy revealed the presence of a 1 cm nodular lesion at the right ureteric orifice. TURBT followed by gross complete resection was performed to remove a 1.5 cm right-side trigone tumor compressing the ureteric orifice, and JJ stenting was performed to deal with the ureteral obstruction. The pathological findings indicated high-grade MIBC. A PET-CT scan revealed a right posterior urinary bladder lesion medial to the ureteric orifice, with associated hydronephrosis of the right kidney. Metastasis to multiple pelvic lymph nodes was noted but without distant metastasis ( Figures 2B, C ). Based on the findings, the patient had stage III, T2N1 MIBC. Serum creatinine levels were markedly elevated (140 mumol/L; calculated CrCl of 51mL/min), and measured creatinine clearance in a 24-hour urine collection was 72mL/min.\nFollowing multidisciplinary discussions and consultations, the patient chose a non-surgical management approach. In July 2022, the patient started four cycles of split-dose gemcitabine/cisplatin chemotherapy, which was completed in early October 2022. A post-chemotherapy PET-CT scan showed complete remission in the bladder and pelvic LNs ( Figures 2D, E ). The hydronephrosis was resolved, and the JJ stent was removed. The patient then received cCRT (55Gy, 20 fractions) with weekly cisplatin (40mg/m2). In December 2022, 3 weeks after completing cCRT, the patient started maintenance therapy with avelumab. A follow-up PET-CT scan in January 2024 showed complete remission with no recurrence. Additionally, a follow-up cystoscopy is scheduled for mid-2024 to continue monitoring. The patient has now been on avelumab therapy for over a year and remains in complete remission. During treatment, the patient experienced self-limiting Grade 1 skin itchiness and fatigue, which did not impact daily activities, and the patient's QoL was maintained.",
"gender": "Male"
}
] |
PMC11165194
|
[
{
"age": 0,
"case_id": "PMC10601869_01",
"case_text": "The child was hospitalized for pneumonia at the age of 1, with abnormal urinalysis. The urinalysis showed protein 3+, occult blood+, and serum albumin 27.2 g/L. The patient showed growth retardation and delayed development in the past. Until the age of 3, he went to the doctor due to growth and development problems. The Gesell Developmental Observation-Revised (GDO-R) assessment showed gross motor development was equivalent to 11.5 months old, fine motor development was equivalent to 21 months old, adaptability development was equivalent to 15 months, language development was equivalent to 12 months, social behavior development was equivalent to 19.5 months, and the overall evaluation was low intelligence. Physical examination of the patient on admission: all fingers are short and stubby. The forehead is narrow and slanted. The patient's cardiopulmonary examination is not special. He has weak muscle tone. Main laboratory results are shown on Table 1. The patient's creatinine was consistently normal. A dual-energy X-ray showed low bone mass (Z-score: -3.0) and an otoacoustic emission examination indicated that the patient had normal hearing at all evaluation rates (750-8,000 Hz). Brain MRI showed extensive symmetrical abnormal signaling in the white matter with brain atrophy (significant atrophy of the cerebellar hemispheres) (Fig. 1d). The electromyography (EMG) test showed myogenic damage. There were no obvious abnormalities seen in cardiac color on Doppler ultrasound or electrocardiogram. The patient had no sensorineural ataxia or tremor, and inherited metabolic disorders were excluded by laboratory tests.\nThe proband undergoes kidney biopsy under general anesthesia. The pathological results suggested that 3/20 glomeruli were focal segmental sclerosis. H&E staining of renal puncture tissue suggested FSGS (Fig. 1b). Under electron microscope, the thickness of the glomerular basement membrane was ~120-280 nm, and the foot processes were diffusely fused, with microvilli degeneration, and a small amount of electron dense deposits were seen in individual mesangial areas (Fig. 1c). The patient was diagnosed with FSGS.\nIn order to clarify the cause, after medical ethics review and the parents of the child signed an informed consent form, 2 mL of the peripheral blood samples of the child and the parents were collected for whole-exome genome sequencing. Whole-exome sequencing revealed a hemizygous mutation of c.290T>G (p.L97R) in the LAGE3 gene. This mutation was not detected in the patient's father, but the patient's mother was a heterozygous carrier. At present, the professional version of HGMD data only includes 4 variants of the LAGE3 gene, including one classic splice site (c.188+1G>A, c.317+4A>G), and two missense variant sites (c.316G>T, c.410T>C). The mutation site in our patient was close to site 316, and combined with the clinical manifestations of the patient, we speculated that the mutation was also pathogenic. The family members of the proband were verified by first-generation sequencing, and it was found that the mutation site was inherited from the mother, and the father was wild type. At the same time, mutations in the TRPC6 gene (c.2206-6G>A), and the NUP160 gene (c.562A>G) were detected. The patient's mother was also a heterozygote for the TRPC6 variant (Fig. 1a).\nBefore we get the genetic sequencing results, methylprednisolone sodium succinate 10 mg b.i.d. was given for 6 days, and enalapril maleate 2.5 mg q.n. was given as a symptomatic treatment, but the proteinuria of the child did not improve, the drug was discontinued. Regular follow-up visits are currently in the outpatient clinic. Test and evaluate his urine output, blood pressure, and monitor urine routine, urine protein quantitative, kidney function, and other related indicators. The child was then admitted to the rehabilitation department and started formal rehabilitation treatment.",
"gender": "Male"
}
] |
PMC10601869
|
[
{
"age": 77,
"case_id": "PMC10500241_01",
"case_text": "A 77-year-old man was admitted to the immunology and allergy outpatient clinic with a history of swelling around lips and pruritic, erythematous papular rash in the chest, arms, and legs occurred 7 days ago. His relatives photographed the lesion in the leg of the patient (Fig. 1). He had no rash, fever, chest pain, cough, dyspnea, or loss of smell in the admission. His recent medical history revealed admission to the emergency department twice, 36 hours apart due to angioedema and urticaria. He was treated with pheniramine 45.5 mg and dexamethasone 8 mg in each application and referred to the dermatology outpatient clinic with rupatadine treatment (10 mg a day) on the 4th day of urticaria. He neither had a history of atopic condition including angioedema or food and drug allergy before nor received non-steroidal inflammatory drugs in the previous 15 days. The plaques were resolved on the 6th day of the presentation. After the first evaluation with a negative skin prick test in the allergy clinic, he was referred to the geriatric outpatient clinics to be evaluated for other causes. The patient was receiving olmesartan medoxomil/hydrochlorothiazide (20/12.5 mg), vildagliptin/metformin (50/1000 mg twice a day), acetylsalicylic acid (100 mg), piracetam (800 mg twice a day), and betahistine dihydrochloride (24 mg twice a day) for the treatment of hypertension, diabetes mellitus, atherosclerotic coronary heart disease, and vertigo. He did not report weight loss, cough, sputum, or fever but complained about tiredness and weakness lasting for 1 week. Vital signs on admission were as follows: blood pressure 110/77 mmHg, heart rate 84 beats per minute, and respiratory rate 18/min. There was no swelling or erythematous plaques on his skin, and wheezes or rales were not present on auscultation. His laboratory values were summarized in Table 1.\nConsidering these unusual pandemic days and the elevated inflammatory markers, we ordered a chest X-ray that bilateral lower lobe infiltrates compatible with COVID-19 pneumonia were seen on the same day of his admission to our clinic. The patient was sent to the pandemic clinic. On the physical examination in the pandemic clinic, body temperature was 38.9 C, and the oxygen saturation was 91% on room air. Since the computerized thorax tomography scan showed bilateral patchy peripherally located ground grass and consolidative opacities (Fig. 2), he was hospitalized, and PCR of upper-airway secretions (by nasopharyngeal swab) documented severe acute respiratory syndrome coronavirus 2 infection the following day.",
"gender": "Male"
}
] |
PMC10500241
|
[
{
"age": 52,
"case_id": "PMC11387079_01",
"case_text": "A 52-year-old male, with a medical history of cervical spine disorder and traumatic brain injury in the past, was transferred to the emergency department (ED) due to altered level of consciousness and dizziness. His relatives reported that during the last month, the patient suffered from severe intractable cervical pain and was treated with nonsteroidal anti-inflammatory drugs, tramadol, and physical therapy. The Glasgow Coma Scale was 8/15, so the patient was intubated. Empirical prompt antibiotic therapy with ceftriaxone and vancomycin was initiated due to high clinical suspicion of central nervous system (CNS) infection. Brain computerized tomography (CT) revealed extensive thrombosis of multiple venous cerebral sinuses (transverse, sigmoid, and cavernous sinuses bilaterally and superior sagittal sinus), as well as IJVs and retinal veins bilaterally (Figure 1). The findings of chest CT were ground-glass opacities of the right lung (Figure 2). The laboratory test results revealed marked leukocytosis and increased levels of C-reactive protein. A lumbar puncture was performed. Cerebrospinal fluid (CSF) analysis showed a total leukocyte count of 438 per liter and a differential neutrophil count of 85%. The CSF and blood cultures were sterile. Further physical examination revealed edema and fluid collection in the left temporomandibular joint and the left parotid gland. Paracentesis and aspiration of both fluid collections were performed. The fluid leukocyte count and differential were unremarkable, while the fluid culture was sterile.\nThe patient was intubated in the ED and transferred to the intensive care unit (ICU), where he remained for 10 days. He was treated with intravenous ceftazidime/avibactam, vancomycin, ampicillin, and metronidazole. He was also treated with enoxaparin for thrombosis. Post-extubation, the patient was transferred from the ICU to a general ward in the Department of Internal Medicine.\nA new brain and neck CT revealed fluid collection in both the middle ear and mastoid cavities (Figure 3), as well as persistence of the IJV thrombi, asymmetry of the left pharyngeal wall, and inflammatory changes in the left carotid and post-styloid parapharyngeal spaces (Figure 4).\nENT head and neck examination revealed an asymmetry of the left lateral pharyngeal wall, indicative of inflammation of the ipsilateral pharyngeal band and deep neck spaces. Otomicroscopy revealed bilateral serous otitis media. Myringotomy was performed on both sides and serous otomastoiditis was diagnosed. However, this diagnosis would not explain intracranial complications on admission, since it was not present at the time. No significant enlarged lymph nodes or masses were found on head and neck examination. On flexible fiberoptic endoscopy, seropurulent secretions were identified in the nasal cavity, and uncomplicated acute bacterial rhinosinusitis was diagnosed. The asymmetry in the left lateral pharyngeal wall was confirmed, with a normal appearance of the supraglottic larynx.\nTaking into account the medical history, the findings of the physical examination, and the medical imaging, LS was considered the most probable diagnosis. Empirical antibiotic treatment was modified to intravenous meropenem, linezolid, and metronidazole against common LS and other deep neck space and CNS infection bacteria, such as methicillin-resistant Staphylococcus aureus (MRSA), vancomycin-resistant Staphylococcus aureus (VRSA), and FS. Anticoagulation therapy was also modified to per os acenocoumarol.\nIntravenous antibiotic treatment continued for three weeks. During this time, the patient became afebrile and hemodynamically stable. The laboratory test results returned to normal levels, and the blood cultures were sterile. He was discharged from the hospital on per os linezolid and metronidazole for six weeks, as well as per os acenocoumarol for six months. On discharge, contrast-enhanced head and neck CT revealed no change in the left transverse and sigmoid sinuses, while a significant reduction of thrombus extension was observed in the rest of the venous sinuses. The patient was scheduled for monthly outpatient medical visits. After six months, he completely recovered with no neurological deficits or abnormal findings on physical examination.",
"gender": "Male"
}
] |
PMC11387079
|
[
{
"age": 69,
"case_id": "PMC11071005_01",
"case_text": "A 69-year-old female patient was admitted to Department of Oncology Surgery of Qinghai University Affiliated Hospital with a chief complaint for presenting with a history of left neck mass for one month. No complaints of pain in the neck mass, dysphagia and dyspnea, and she denied a history of radiation to the neck or family history of thyroid carcinoma. Physical examination showed a mass approximately measuring 2 cm x 1 cm on the left thyroid gland on palpation, which was firm with an irregular surface, moved up and down during deglutition. No palpable cervical lymphadenopathy was present. Initial laboratory tests, including thyroid function tests, were unremarkable. The thyroid ultrasound showed a hypoechoic nodule with unclear boundary, labeled in Thyroid Imaging Reporting and Data System (TI-RADS) as four, measuring 16 mm x 8 mm in the left thyroid gland (Figure 1A). Thyroid computed tomography (CT) revealed a space-occupying lesion in the left lobar of the thyroid gland, with malignant nature being considered, and compression of the internal jugular vein in the left side (Figure 1B). An ultrasound-guided fine-needle aspiration biopsy (FNAB) of the left thyroid gland revealed a large number of patchy follicular epithelial cells and atypical changes were seen in a few cells, it showed that a definitive diagnosis would require further intraoperative freezing. The reason why FNAB is not enough to detect malignant tumors may be that tumor cells exist firmly in the tumor through the reaction of promoting connective tissue hyperplasia and fibrosis, resulting in unsuccessful puncture; or the sampling error caused by less acupuncture tissue due to the uneven distribution of tumor cells in the tissue.\nSurgical treatment was performed after perfecting the preoperative preparation. Intraoperatively, we observed a grayish-white mass approximately measuring 2 cm x 1.5 cm on the left thyroid gland, which was firm with unclear borders, invaded the thyroid peritoneum and the strap muscle. The boundary between the mass as well as trachea and esophagus was not clear. Then the left thyroid mass was removed radically and intraoperative freezing showed, malignant. Finally total thyroidectomy with radical left cervical lymph node dissection was performed. One lymph node metastasis was found in the resected lymph node tissue. The postoperative pathology was diagnosed as PTC with squamous cell differentiation, considering SCC, and some areas of poorly differentiated carcinoma. Microscope observation (Figure 2A,2B): papillary carcinoma and SCC with invasive growth. Papillary carcinoma cells were glandular tubular and papillary with large nuclei and hairy glass-like. While squamous carcinoma cells were irregularly distributed in strips and clusters with long spindle-shaped, or irregular polygonal cells, large and deeply stained nuclei, eosinophilic cytoplasm, obvious nuclear atypia, and easy to see nuclear mitotic figure as well as intracellular keratinisation and inter-cellular bridges. Immunohistochemically: tumor cells were positive for CK19 (Figure 2C), P63 (Figure 2D), CK5/6 (+), AE1/AE3 and Galectin-3, and negative for thyroid transcription factor-1 (TTF-1), Tg, CD56, calcitonin (CT), presynaptic (Syn) and CgA, the proliferative index was approximately 30%. Polymerase chain reaction (PCR) showed BRAFV600E gene mutation. Among them, CK5/6, CK19 and P63 expression were positive, CT, CgA and SYN were negative, which were consistent with the immunohistochemical characteristics of PTC and PDTC. AE1/AE3, CK5/6, CK19, p63 were all positive, while TTF-1 and Tg expression were negative. Combined with pathological morphology, this case was supported be of the ATC-SCC subtype.\nCalcium supplementation and fluid replacement treatment were given to the patient after operation. Four weeks after the surgery, 131I treatment (100mCi) was given. Then thyroid-stimulating hormone (TSH) suppressive therapy were used until now. Paclitaxel (300 mg d1-2) combined with cisplatin (30 mg d1-4) chemotherapy was performed 50 days after the surgery, and three cycles were completed (21 days as a cycle). At the same time, the whole neck radiotherapy including the range of lymph nodes in Ib, II, III, IV, V and VI regions of the neck was performed in the third cycle of chemotherapy. The planned target radiotherapy dose was 150 Gy/25 F. During the post-operative period of 5 months, on follow-up, no obvious abnormalities were seen in the patient.\nAll procedures performed in this study were in accordance with the ethical standards of the institutional research committee and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for the publication of this case and any accompanying images. A copy of the written consent is available for review by the editorial office of this journal.\nDuring the 1st-9th days after hospitalization, laboratory examination and preoperative evaluation were performed. The 10th day was operation day. The 11th-13th days were postoperative duration. The duration from 4 weeks after operation to 5 months is follow-up period (Figure 3).",
"gender": "Female"
}
] |
PMC11071005
|
[
{
"age": 86,
"case_id": "PMC10628417_01",
"case_text": "An 86-year-old Caucasian female with a family history of hypercoagulability and a past medical history of arterial hypertension, paroxysmal atrial fibrillation, polymyalgia, chronic pain syndrome, and previous pulmonary embolisms presented with acute central chest pain radiating to the neck and left shoulder. The pain had started suddenly during gardening work. The patient had a history of mild non-cardiac chest pain, which was attributed to dyspepsia. However, this time the pain rapidly intensified, making the patient short of breath and diaphoretic. Within 1 h, the patient was admitted to the emergency department at Randers Regional Hospital, Denmark. The patient was diaphoretic at admission, but the dyspnea had subsided. Moreover, the patient was conscious and without any neurological symptoms. Cardiac auscultation identified a systolic murmur, which was known from previous admissions. Blood pressure was 160/88 mmHg, and the initial electrocardiogram (ECG) showed slight sinus bradyarrhythmia with right bundle branch block (unchanged from past ECG's). Subsequent telemetric heart rate monitoring revealed a heart rate frequency ranging between 60 and 110 bpm. Myocardial biochemical markers were within normal ranges. A chest X-ray demonstrated a widened 11 cm mediastinal silhouette (Figure 1). Transthoracic echocardiography (TTE) showed no pericardial effusion, no heart valve involvement, and normal left ventricular, hence no signs of myocardial malperfusion were detected. Subsequent acute computed tomography (CT) imaging revealed a massive (type A4 SVS/STS, Debakey type 1a) aortic dissection with an entry tear 3 cm above the aortic valve. Distal extent 4 cm into the descending arc with branch extensions in the brachiocephalic trunk and the right common carotid artery. The false lumen was patent with a cross-sectional size of 26 mm, while the true lumen was 15 mm (Figure 2, Video 1). No radiologic signs of malperfusion syndrome were detected.\nThe patient had an international normalized ratio (INR) of 3.6 upon presentation, likely due to habitual anticoagulant medication (warfarin), which had been initiated prophylactically due to the estimated thromboembolic risk associated with atrial fibrillation and prior pulmonary emboli (CHA2DS-VASc =6). Upon discovering the aortic dissection, the medication was promptly stopped and reversed with phytomenadione to restore a procoagulant effect.\nThe patient had a clinical frailty score (CFS) of 6, indicating moderate frailty. The patient's pulmonary function, with arterial blood gas and pulse oximetry, was normal, and renal function was within the normal range (plasma-creatinine ~0.8 mg/dL).\nConsidering the patient's age, comorbidities, and the extent of the aortic dissection, the cardiothoracic team predicted the surgical risk to be prohibitively high. Moreover, the patient preferred conservative treatment over surgery. An antihypertensive regimen comprising labetalol, a thiazide diuretic, and nitroglycerin was initiated resulting in a systolic blood pressure of around 120 mmHg. By the end of the first week, the patient was transitioned to a long-term blood pressure control regime by the gradual replacement of labetalol and nitroglycerin with ramipril and amlodipine. The patient's biochemical profile remained near habitual throughout the entire admission with a plasma creatinine level of around 0.8 mg/dL and plasma hemoglobin near 11.3 g/dL. Besides a minor urinary tract infection treated with pivmecillinam, the patient had an uneventful recovery and was discharged 13 days after admission. No repeat CT imaging was made prior to discharge because any subacute CT findings would be management inconsequential due to the patient's surgical noncandidacy. Instead, it was decided that repeat CT imaging and outpatient control would be performed 1-month post-discharge. In the meantime, a home nurse monitored the patient's blood pressure once daily and administered labetalol as necessary to keep systolic pressure below the target of 120 mmHg. An overview of the timeline is provided in Figure 3.\nPleural effusion was detected on the 1-month CT control scan and subsequently pleuracentesis was performed. The CT scan revealed a slight proximal progression of the aortic dissection and thrombosis of the false aortic lumen, but no expansion of luminal size.\nFive years after the initial diagnosis, the patient presented again to the emergency department with radiating chest pain. Still, cardiac biomarkers were negative, and the ECG was unchanged. A CT scan found that the dissection had further thrombosed with a slight narrowing of the false lumen and a 2-mm distension of the aortic trunk (Figure 4, Video 2). Notably, the extent of the aortic dissection was unchanged since the 1-month follow-up. Now, more than 5 years after the initial presentation, the patient remains self-reliant and mobile despite having an extensive, yet stable, TAAD at age 92 years.\nAll procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committees and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.",
"gender": "Female"
}
] |
PMC10628417
|
[
{
"age": 61,
"case_id": "PMC10791563_01",
"case_text": "A 61-year-old non-smoker female with a BMI of 30 kg/m2 presented to the hospital with a 7-year history of right-sided groin swelling which appeared painless. The patient initially decided not to seek medical assistance since the swelling was asymptomatic. However, she observed that the bulge was progressively growing over time. She didn't go to the hospital for additional assessment until her concerned family pointed out the significant growth.\nDuring her medical assessment, the patient reported occasional constipation but denied experiencing any concurrent symptoms of stomach distension or edema. Her bowel movements were regular and without any abnormalities. Notably, during her prior hospital visits, she had not complained of discomfort or exhibited any signs of edema or other alarming symptoms. Nonetheless, the visible enlargement of the groin bulge prompted her to seek medical assistance for a comprehensive evaluation.\nA pertinent aspect of the patient's medical history is that she had previously undergone elective open right inguinal repair surgery nine years ago without mesh due to a similar history of groin swelling.\nA right-sided inguino-femoral enlargement was discovered during a physical examination as shown in the Fig. 1. The area felt non-reducible and appeared incarcerated. On palpation, the edema was confirmed to be non-tender, suggesting the lack of pain or discomfort when touched. The patient had a flat belly and no distension symptoms. Furthermore, the patient's vital indicators, including heart rate, blood pressure, and respiration rate, were all normal. A hernia was suspected because of a considerable non-reducible swelling in the inguino-femoral region, as well as the absence of pain and a non-distended abdomen. Given the patient's prior right inguinal repair surgery history, the first differential diagnosis suggested a right inguinal hernia recurrence. According to the conclusions of the physical examination, the swelling is most likely caused by a hernia. Ultrasonography (USG) and contrast-enhanced computed tomography (CECT) were performed to confirm the diagnosis and determine the extent of the hernia.\nTwo primary diagnostic procedures were performed on the patient: ultrasonography (USG) and contrast-enhanced computed tomography (CECT). These imaging scans were ordered due to a suspicion of an inguinal hernia.\nUltrasonography (USG) was initially conducted to evaluate the inguino-femoral swelling. The USG findings indicated the presence of a hernia, with visualized herniated contents and the location of the swelling suggesting an inguinal hernia. The USG revealed important information about the size and location of the hernia, which aided in the initial diagnosis. A contrast-enhanced computed tomography (CECT) scan was done to further assess the nature and extent of the hernia. The CECT scan confirmed the diagnosis of an inguinal hernia by indicating a substantial herniation including the distal small bowel and cecum going via a femoral hole as shown in Fig. 2.\nAn unexpected finding was discovered during the surgical correction of the presumed recurrent inguinal hernia. Intraoperatively, after groin probing, it was found that the hernia was a femoral hernia rather than an inguinal hernia shown in the Fig. 3. The detection of the femoral ring and the passage of the herniated contents through the femoral orifice led to this conclusion. It became evident that the massive femoral hernia had developed primarily from the femoral canal rather than being a recurrence of the prior hernia. The significant enlargement was unusual given the typically narrow femoral canal, as femoral hernias tend to have a smaller neck and are prone to strangulation. Based on the intraoperative confirmation, the initial imaging findings of an inguinal hernia were amended.",
"gender": "Female"
}
] |
PMC10791563
|
[
{
"age": 18,
"case_id": "PMC10769491_01",
"case_text": "We performed a prospective observational cohort study in two academic pediatric centers nearby Paris, France. Patients were eligible if (i) they were aged of 18 years old or less at enrolment; and (ii) they had a clinical diagnosis of T1D diagnosed before June 2019. Patients were prospectively recruited during a hospitalization or an outpatient clinic appointment from May 11 to August 1, 2020. Exclusion criteria were: a hospitalization for changing the treatment regimen in the 6 months prior to March 17, 2020; the absence of 3 values of HbA1c before the lockdown; the absence of a value of HbA1c during the recruitment period; and patients or parents who declared their opposition to collect the data.\nAt enrolment, patients and their parents or legal guardians were asked to complete a form assessing their lifestyle during the lockdown (number and lifestyle of household members, respect of the rules of social distancing, sport, food and sleeping habits), whether they were in contact with a suspected or confirmed case of COVID-19, and their feeling about their glycemic control (Supplementary Material S1).\nA second case report form has been created and completed for each patient by the pediatrician in charge, including clinical data, medical background, history of T1D, biologic and therapeutic data before and after lockdown (Supplementary Material S2).\nThe primary outcome was the evolution of the glycated hemoglobin (HbA1c) before and after lockdown by comparison between the mean of the three HbA1c before lockdown (HbA1c_mean) and the value of the first HbA1c after lockdown (HbA1c_after). The main secondary outcomes were the differences between features observed before and during/after lockdown, such as: the number of severe hypoglycemia (defined as hypoglycemia requiring assistance due to altered consciousness) and of hyperglycemia with ketonemia or diabetic ketoacidosis; the total daily dose of insulin; the proportion of time spent in the target range (TIR; i.e., 70-180 mg/dl), below the target range (TBR; i.e., less than 70 mg/dl), and above the target range (TAR; i.e., more than 180 mg/dl) for patients withflash glucose monitoring, which is a type of continuous glucose monitoring that needs to be intermittently scanned to access at the glucose levels. This system continuously samples and measures interstitial glucose levels; a new glucose value is generated each minute. The sensor can provide glucose values for 14 days if the patient scans at least every 8 h. If not, the glucose information from the previous 8-hour period is deleted. We also described the changes in lifestyle during lockdown.\nWe decided to separate the whole population in two different groups regarding on evolution between HbA1c_mean and HbA1c_after (DeltaHbA1c = HbA1c_after:HbA1c_mean). The first group would consist of all patients with DeltaHbA1c < 0 (improvement of glycemic control) while the second would consist of all patients with DeltaHbA1c > 0 (degradation of glycemic control). For the statistical analysis, it was decided to exclude patients with a strictly stable HbA1c (DeltaHbA1c = 0). These subgroups were compared to identify some factors associated with HbA1c variability.\nResults are shown as medians (interquartiles) for continuous variables and numbers (percentages) for categorical variables. Wilcoxon test and Fischer exact test were used as appropriate to assess differences between independent subgroups; a paired Wilcoxon test was used as appropriate to assess the differences between subjects before and after the lockdown.\nAll variables identified on univariate analysis as potential factors associated with increased HbA1c levels (p < 0.20) were introduced in a binary logistic regression model to estimate odds ratios (ORs) and 95% confidence interval (CI). A step-by-step approach was further performed to identify the best model. A p-value < 0.05 was considered statistically significant. All the tests were performed using R statistical and forestmodel packages, version 4.0.3 [R Project for Statistical Computing (RRID:SCR_001905)].\nAccording the French national policy, an information letter was given to the parents or legal guardians and the non-opposition was recorded. Patients were excluded if the opposition of collecting or using data was expressed.\nThe study protocol has been approved by the Robert-Debre Ethics Committee (IRB 00006477) under number 2020-517.",
"gender": "Unknown"
}
] |
PMC10769491
|
[
{
"age": 69,
"case_id": "PMC10762641_01",
"case_text": "This study was approved by the Ethics Committee of The First Affiliated Hospital of Guangxi Medical University (the approval number is 2023-E637-01). A 69-year-old male patient was admitted to the hospital 10 days after reexamination for hepatic space-occupying lesions on 17 March 2022. He had a history of diabetes, clonorchiasis sinensis, and gout. He had been treated with deinfestation, and his blood glucose and uric acid control was satisfactory. Assessment and examination were performed after admission. Liver CT and liver MRI indicated that S3 and S4 occupied liver space ( Figures 1A-H ), and tumor recurrence was considered. Alpha-fetoprotein (AFP): 716.27 ng/mL, protein induced by vitamin K absence or antagonist II (PIVKA-II): 30.25 mAU/mL, HBV DNA < 5x 10-2 IU/mL. He was diagnosed with focal liver lesions (hepatic segment of S3 and S4, Child-Pugh grade A); postoperative liver cancer; malignant tumor of sigmoid colon (after sigmoid cancer surgery); diabetes mellitus; gout; and clonorchiasis sinensis. The patient was discussed by the multidisciplinary team (MDT) of Hepatobiliary Surgery of the First Affiliated Hospital of Guangxi Medical University. The patient's current hepatic space-occupying lesion was considered to be highly likely to have primary liver cancer, which had unclear boundary and local bile duct compression, and had a history of multiple liver cancer surgical treatment and radical resection of colorectal cancer. In order to clarify the nature of the lesion, it is recommended to improve gastroscopy, HAIC treatment, postoperative adjuvant targeted and immunotherapy, and subsequent evaluation of surgical resection. The MDT team proposed a protocol of arterial infusion chemotherapy combined with sintilimab injection and lenvatinib to transform the tumor and then evaluate surgical treatment. Specific chemotherapy regimen: oxaliplatin 85 mg/m2 (2 h), calcium folinate 400 mg/m2 (1 h), and rapid infusion of 5-fluorouracil (5-FU) 2,400 mg/m2 (46 h). After fully communicating with the patient and his family, the patient chose to undergo surgical resection after conversion therapy and signed a written informed consent for treatment. Then, the first HAIC treatment was performed on 21 March 2022. After the treatment, the patients were treated with renvatinib 8 mg qd + sintilimab 200 mg every 3 weeks, and the next cycle of treatment was performed every 21 days. The second HAIC treatment was the same as the first.\nAfter three cycles of treatment, CT review showed that no significant activity of the intrahepatic S3/4 tumors. Reexamination of serological results suggested AFP is 5.83 ng/mL, PIVKA-II is 35.96 mAU/mL. Child-Pugh grade A and score of 6, indocyanine green (ICG), ICG-R15-minute retention rate of 8.2%. The percentage of the left lateral lobe of the liver in the standard liver volume is 64.5%.. After three cycles HAIC treatments, tumor markers showed a downward trend ( Figure 2 ). By using the Modified Evaluation Criteria for Solid Tumor Efficacy (mRECIST) method, the patient's liver S3 and S4 tumors reached complete response (CR) level, and the tumors showed no significant activity ( Figures 3A-H ). The current treatment reached the expected level, and surgical treatment could be performed. After the contraindication of surgery was excluded, hepatocellular carcinoma resection, intestinal adhesion release, and cholangioplasty were performed on 16 June 2022. The tumor was mainly located in the S3 segment of the liver. The size of the tumor was 2.5x2x1.7 cm3. The tumor was irregular in shape, without envelope and borderline clear, the section was yellowish-white, and there was no bleeding and necrosis in the middle. The tumor was close to the intersection of S2 and S3 segments. Because the tumor is close to the liver S2 and S3 segment, the main stem of S2 and S3 segment should be protected and the tumor should be completely resected along the capsule. The residual liver blood supply showed good results after tumor resection. In in vitro measurements, the closest distance of the S3 and S4 tumors from the incisal margin was 0 cm ( Figures 4A-D ). Postoperative pathology (left lobe mass of liver): Radical resection specimen after interventional treatment. Most of the tumors were necrotic and the necrosis rate was greater than 95%. Tissue fibrosis, calcification, and more inflammatory cell infiltration. The changes were consistent with interventional therapy. A small amount of live tumor tissue remains (<5%), which is a moderately differentiated adenocarcinoma, and its origin was to be immunohistochemically determined. No satellite nodules, no capsular involvement, no nerve invasion, microvascular invasion (MVI) grade: M0, no tumor involvement at surgical margin, and chronic hepatitis G3S2 changes in the surrounding liver tissue. Special staining results of Ag and PAS supported the above diagnosis. Immunohistochemistry: CK20 (+), CDX-2 (+), CK19 (+), CK7 (-), Hepatocyte (-), Arginase-1 (-), Glypican-3 (-), CD34 (-), HBsAg (-), HBcAg (-), P53 (approximately 90% strong +), P21 (-), NM23 (weak +), VEGF (-), and Ki-67 (approximately 80%+) were considered as the source of gastrointestinal cancer combined with history, morphology, and immunohistochemistry. The patient recovered well after surgery and was discharged 6 days after surgery. The discharge diagnosis was as follows: colorectal cancer liver metastases (hepatic segment of S3 and S4, moderately differentiated adenocarcinoma); postoperative liver cancer; malignant tumor of sigmoid colon (after sigmoid cancer surgery); diabetes mellitus; gout; and clonorchiasis sinensis. There were no significant adverse events during treatment.",
"gender": "Male"
}
] |
PMC10762641
|
[
{
"age": 55,
"case_id": "PMC10543650_01",
"case_text": "ChatGPT-4's recommendations for one exemplary Gray Zone case are displayed in Figure 5 . In this example, a 55-year-old woman was treated in the past for mixed invasive lobular and ductal carcinoma of the left breast developed contralateral nodal recurrence after an interval of 10 years. More details about this patient can be found in and its detailed responses to other cases are available in our GitHub repository. ChatGPT-4 proposed a combination of endocrine therapy with an aromatase inhibitor and a CDK4/6 inhibitor, regional nodal irradiation, close monitoring and appropriate supportive care. ChatGPT-4 made such a recommendation based on the patient's genotype and historic treatment. In addition, ChatGPT-4 provided a concise summary of the five experts' recommendations, as displayed in Figure 5 . ChatGPT-4 stated that its initial recommendation aligned most closely with Expert 3's recommendation because both suggested focusing on treating the current contralateral axillary nodal metastases and involved the use of endocrine therapy and a CDK2/6 inhibitor as part of the systemic therapy. Nevertheless, ChatGPT-4 favors Expert 2's recommendation instead of Expert 3's since Expert 2's recommendation considers the patient's suboptimal initial treatment and the potential benefits of aggressive locoregional therapy in controlling the disease. Therefore, after seeing all five experts' opinions, ChatGPT-4 tended to update its recommendation, \"drawing inspiration from Expert 2's recommendation\". This exemplary case demonstrates the potential of ChatGPT-4 in assisting decision making for intricate Gray Zone cases.",
"gender": "Female"
}
] |
PMC10543650
|
[
{
"age": 47,
"case_id": "PMC11087035_01",
"case_text": "A 47-year-old male patient experiencing homelessness was admitted to our hospital with respiratory distress and septic shock. The patient was an intravenous drug user and a heavy smoker (30 pack-years). Except for chronic hepatitis C, there was no history of liver or gastrointestinal disease. No relevant alcohol consumption was noted. Vital signs on admission showed hypotension (mean arterial pressure <65 mm Hg), tachycardia (heart rate = 130/m), and oxygen saturation of 80%. Laboratory tests on admission revealed leukocytosis (18,000/microL), elevated CRP (250 mg/dL; reference <5) and procalcitonin (2.2 ng/mL; reference <0.5), and very high liver enzymes (ALT 50 times the normal value, AST 100 times the normal value). The bilirubin, gamma-glutamyltransferase (GGT), alkaline phosphatase (ALP), and albumin levels were normal. The HCV-antibody test was positive, with a viral load of over 7 million IE/mL. The HIV test was negative. Computed tomography revealed bilateral pneumonia and abdominal ultrasonography revealed normal findings. Mechanical ventilation was initiated to treat the respiratory failure, and high-dose catecholamine was necessary for hemodynamic instability. The disease course was complicated by kidney infarction and paralytic ileus of the colon, which resolved after endoscopic decompression. After 1 week, the liver enzymes returned to normal range. After 10 days in the ICU, the patient was transferred to a tertiary hospital for extracorporeal membrane oxygenation therapy due to further respiratory deterioration. After 30 days of extracorporeal membrane oxygenation therapy, the patient was transferred back to our hospital. On the second admission, the liver tests were normal, except for slightly increased GGT. During the stay in the normal ward, we noted a gradual progression of the cholestatic parameters (GGT increased 30 times, ALP increased 10 times, and bilirubin was normal). Abdominal ultrasonography showed extrahepatic cholestasis with a common bile duct diameter of 12 mm and hyperechoic longitudinal material within the bile duct (Fig. 1). We removed multiple biliary casts from the bile ducts via ERCP (Fig. 2). The cholangiography showed rarefication with multiple segmental stenoses of the intrahepatic bile ducts (Fig. 3, 4). Therefore, the diagnosis of SSC-CIP was made. After the ERCP, the cholestasis parameters improved but did not return to normal ranges (GGT increased 10 times and ALP increased 5 times). During the second ERCP, no biliary casts were observed. To date, no signs of liver cirrhosis and no signs of recurrent cholangitis have been detected in our patient. We plan to follow up in 3 months.",
"gender": "Male"
}
] |
PMC11087035
|
[
{
"age": 19,
"case_id": "PMC10917653_01",
"case_text": "The patient was a healthy 19-year-old man without any history of head injury. He developed a headache without any apparent trigger and visited a local neurosurgical clinic 5 days later. Magnetic resonance imaging (MRI) of the head revealed a left subdural hematoma (Fig. 1A), and he was referred to our hospital. The patient had a headache but was oriented and alert. He had no nausea or vomiting, and abnormal neurological findings were absent. Blood tests showed no bleeding diathesis. The MRI revealed a subdural hematoma extending from the left parieto-occipital region to the interhemispheric fissure. Non-contrast computed tomography (CT) revealed an acute high-density hematoma. Contrast-enhanced CT revealed a prominent diploic vein on CT venography but no obvious vascular abnormalities (Fig. 1B, C). Cerebral angiography revealed a dural arteriovenous fistula on the left parietal cranium with a feeder from the left middle meningeal artery (Fig. 2A). Most of the shunt blood flowed anterogradely through the transverse sinus via the diploic vein (Fig. 2B). Part of the shunt blood flowed into the superior sagittal sinus (SSS) and returned anterogradely (Fig. 2C). There was no CVR or cerebral venous stasis suggesting cerebral venous hypertension. There was also no stenosis or thrombosis observed in the dural sinuses. Angiographic multi-planar reconstruction (MPR) images showed that the shunt blood flowed into the SSS via the meningeal vein without involving the cortical vein (Fig. 2D). The location of the dilated meningeal vein coincided with the thickest part of the hematoma, which was considered to be the source of bleeding (Fig. 2E). We diagnosed the patient with left convexity DAVF, classified as Borden type I and Cognard type I. The DAVF was considered the bleeding source of the ASDH. Therefore, transarterial embolization (TAE) was performed.\nUnder general anesthesia, a 6 Fr long sheath was inserted into the right femoral artery, and a 6 Fr Fubuki guiding catheter (Asahi Intecc, Aichi, Japan) was navigated into the left external carotid artery. A 3.2 Fr GuidePost (Tokai Medical Products Inc., Aichi, Japan) was guided to the left middle meningeal artery and placed at the foramen spinosum, and a Marathon (Medtronic, Minneapolis, MN, USA) was guided across the shunt point to the pouch of the diploic vein. Two coils were placed in the pouch, and 20% n-butyl-2-cyanoacrylate was injected to occlude the shunt (Fig. 2F). No SSS or cerebral vein stasis was observed.\nThe patient recovered well from general anesthesia and showed no new neurological symptoms. Three days after the intervention, the patient was doing well and was discharged. Cerebral angiography 1 year later showed no recurrence.",
"gender": "Male"
}
] |
PMC10917653
|
[
{
"age": 47,
"case_id": "PMC10771916_01",
"case_text": "A 47-year-old male with a history of decompensated alcohol-related cirrhosis with ascites (MELD-Na score of 40) and seizure disorder was transferred to our liver transplant center's medical intensive care unit for management of hemorrhagic shock secondary to an upper GI bleed. On arrival to our center, the patient was hypotensive requiring continuation of vasopressors. He had large volume hematochezia with an associated drop in Hgb to 4.3 g/dL requiring initiation of the massive transfusion protocol, ultimately receiving 9 units of packed red blood cells, 6 units of fresh frozen plasma, 4 units of cryoprecipitate, and 6 units of platelets. After initial resuscitation, gastroenterology was consulted for an emergent esophagogastroduodenoscopy given the concern for a brisk upper gastrointestinal bleed. The endoscopy showed no obvious esophagogastric or duodenal varices, but mild portal hypertensive gastropathy, 3 non-bleeding, clean-based ulcers in the duodenal bulb, and 1 ulcer with an adherent clot that was actively bleeding into the 2nd portion of the duodenum (Figure 1). A submucosal 10 mL epinephrine injection was performed around the bleeding site to achieve hemostasis. Given the high-risk for rebleeding, the patient underwent celiac and superior mesenteric angiography, which showed no active extravasation. Empiric coil embolization of the gastroduodenal artery was performed by interventional radiology (IR). Two days following the procedure, the patient developed worsening hypotension with new hematemesis requiring additional vasopressors and blood products. He underwent a computed tomography (CT) angiography of the abdomen and pelvis, which showed active hemorrhage into the 2nd and 3rd portion of the duodenum from a large duodenal varix extending into the eroded duodenal wall (Figure 2). No portal vein thrombosis was noted on CTA. In discussion with IR, there was no clear route to access the duodenal varix endovascularly for embolization. Furthermore, due to his worsening coagulopathy and hemodynamic instability, the patient was not a candidate for an emergent transjugular intrahepatic portosystemic shunting (TIPS) procedure. Given his poor prognosis, the patient's family decided to pursue comfort care measures, and he shortly succumbed to his illness.",
"gender": "Male"
}
] |
PMC10771916
|
[
{
"age": 57,
"case_id": "PMC10870810_01",
"case_text": "A 57-year-old lady with underlying diabetes mellitus presented with 2 months of persistent cough and constitutional symptoms. The chest radiograph showed a right hilar lesion. Computed tomography (CT) thorax revealed a right hilar mass measuring 3.8 x 3.8 x 2.8 cm and mediastinal lymphadenopathy [Figure 2(a) and (b)]. The patient underwent EBUS-TBNA and EBUS-TBNC under general anaesthesia via laryngeal mask airway (LMA). Systematic inspection of lymph node stations revealed N3 nodes (11L, 10L and 4 L) measuring less than 5 mm, and an enlarged station 7 node (N2) measuring 40 mm with a well-defined, irregular margin with heterogeneous echogenicity and no central hilar structure. Four EBUS-TBNA passes were performed at the station 7 node, and ROSE revealed clusters of atypical cells suspicious of malignancy. Consequently, four EBUS-TBNC passes were performed with activation times ranging from 3 to 5 s, with preceding tract enlargement by the Olympus Needlecut 3 v knife. Procedural time was 20 min for EBUS-TBNA and 43 min for EBUS-TBNC. Both the EBUS-TBNA cell block and cryobiopsy sample confirmed adenocarcinoma and were sufficient for mutational analysis, confirming an EGFR (Exon19 deletion) mutation [Figure 2(c)-(g)] Following lung cancer multidisciplinary discussion, she was commenced on gefitinib and responded well to the treatment.",
"gender": "Female"
},
{
"age": 52,
"case_id": "PMC10870810_02",
"case_text": "A 52-year-old lady with underlying right breast cancer presented with a 1-year history of dry cough and weight loss. The chest radiograph revealed a left pleural effusion. Follow-up CT thorax revealed mediastinal lymphadenopathy, left lower lobe segmental collapse and left-sided pleural effusion [Figure 3(a) and (b)]. Thoracentesis revealed an exudative pleural effusion with a pleural adenosine deaminase (ADA) level of 10.8 IU/l and non-significant cytology results. Thoracoscopic biopsy demonstrated benign fibroadipose tissue with chronic inflammation. Due to concerns that the medical thoracoscopy findings were non-representative of the underlying disease, EBUS-TBNA was performed to sample enlarged mediastinal nodes. The procedure was performed under general anaesthesia using a laryngeal mask airway (LMA). On inspection, the angle of the carina was widened and deviated towards the left. The left main bronchus was slightly narrowed. EBUS-TBNA was performed with four passes made at station 7 node which was enlarged at 33 mm. ROSE revealed the presence of malignant cells. Subsequently, an EBUS-TBNC was conducted, and the Olympus Needlecut 3 v knife was used to enlarge the tract created by the EBUS-TBNA needle. Four cryobiopsy samples were obtained, with activation times ranging from 3 to 5 s, respectively. The overall procedure duration was 75 min, consisting of 25 min for EBUS-TBNA and 55 min for EBUS-TBNC. Both EBUS-TBNA cell block [Figure 3(c) and (d)] and EBUS-TBNC sample showed adenocarcinoma of the breast in origin but only the EBUS-TBNC sample was sufficient for hormonal biomarkers analysis, confirming a HER2 negative, ER and PR-positive tumour [Figure 3(e)-(g)]. She was subsequently referred to the oncology team for further treatment.",
"gender": "Female"
},
{
"age": 65,
"case_id": "PMC10870810_03",
"case_text": "A 65-year-old ex-quarryman, never a smoker, presented with a chronic cough since 2013, which had worsened recently. In his 20-year history of work, he had only used a simple cloth mask for protection. Chest radiograph showed multiple small nodules bilaterally. Sputum tests for acid-fast bacilli (AFB) and gene expert were negative but sputum culture revealed Klebsiella pneumonia, for which he received intravenous antibiotics. A repeat chest radiograph showed persistent lung nodules. Follow-up CT thorax revealed bilateral numerous small lung nodules, along with a conglomerating mass (3.1 x 2.6 x 3.0 cm) in the right upper lobe and mediastinal lymphadenopathy, suggestive of silicosis. Under general anaesthesia, with the airway secured using a rigid bronchoscope, he underwent EBUS-TBNA of the enlarged station 7 node (measuring 40 mm). The node showed ill-defined margins, specks of calcification and homogeneous echogenicity. Four passes were made and ROSE showed benign lymphoid cells. A 1.1-mm cryoprobe was gently passed through the tract created by the EBUS-TBNA needle, obtaining five specimens from TBNC of the station 7 node with activation times ranging from 3 to 10 s. The procedure lasted a total of 65 min, with EBUS-TBNA taking 25 min and EBUS-TBNC taking 40 min. Cell block analysis from EBUS-TBNA revealed pigmented alveolar macrophages, benign lymphocytes and inflammatory cells. EBUS-guided TBNC showed multiple micronodular lesions with central lamellar hyalinization consistent with silicosis.",
"gender": "Male"
},
{
"age": 63,
"case_id": "PMC10870810_04",
"case_text": "A 63-year-old farmer, an active smoker, with underlying hypertension presented with a 2-week history of dry cough and breathlessness. The chest radiograph revealed a moderate right-sided pleural effusion. Sputum AFB direct smears were negative and thoracocentesis revealed an exudative, lymphocyte-predominant effusion with negative culture, cytology, AFB smear, and ADA of 4.18 IU/L. A CT thorax showed right upper lobe nodules, right segmental middle lobe collapse, mediastinal lymphadenopathy and a new left-sided pleural effusion [Figure 4(a) and (b)]. EBUS was performed under general anaesthesia via a laryngeal mask airway. Systematic examination of lymph node stations revealed an oval-shaped, 7 mm node at station 11 L with well-defined borders and a 21 mm node at station 7 with an ill-defined border. Four passes of EBUS-TBNA were performed at the 11L node, with ROSE revealing benign lymphoid cells. Four passes of EBUS-TBNA were performed at the station 7 node, with ROSE revealing a hypocellular smear with few lymphocytes. In view of the inconclusive ROSE, we proceeded with EBUS-TBNC of the station 7 node, obtaining five specimens with activation times ranging from 3 to 10 s. The procedure lasted a total of 100 min, with EBUS-TBNA taking 25 min and EBUS-TBNC taking 75 min. Cell block analysis from TBNA showed benign lymphocytes from station 11 L and station 7 [Figure 4(c)]. No malignant cells or granulomas were detected from either nodal station. However, EBUS-TBNC showed extensive caseous necrosis with aggregates of epithelioid histiocytes, multinucleated giant cells of Langerhans type mixed with necrotic debris and degenerated inflammatory cells [Figure 4(d) and (e)]. Furthermore, Ziehl-Neelsen staining confirmed the presence of acid-fast bacilli [Figure 4(f)], leading to the initiation of anti-tuberculous therapy for the patient. During the 2-month follow-up, the patient remained well with no new symptoms or re-accumulation of pleural fluid.",
"gender": "Unknown"
}
] |
PMC10870810
|
[
{
"age": 51,
"case_id": "PMC10885578_01",
"case_text": "A 51-year-old lady was diagnosed with metastatic carcinoma left breast. She was lethargic and ectomorphic in built, with a height of 150 cm and weight 43.7 kgs. She was found to have moderate disturbance in sleep after her first cycle of chemotherapy. Presenting symptoms were difficulty in initiating sleep, difficulty in maintaining sleep, frequent awakenings at night, difficulty in returning to sleep after awakening, early morning awakening and difficulty to return to sleep after early morning awakening for 8 months which aggravated severely after the first chemotherapy. She has been prescribed hypnotics intermittently for the same but could not sleep effectively. Associated complaints were weight loss, headache, fatigue, hair fall and drowsiness throughout the day. Since the patient was diagnosed to have clinical insomnia of moderate severity, the patient was managed with Shirothalam (application of medicated paste onto bregma of head) and Padabhyangam (foot massage) as an add-on to the standard of care.",
"gender": "Female"
}
] |
PMC10885578
|
[
{
"age": 32,
"case_id": "PMC11408469_01",
"case_text": "In May 2023, a 32-year-old man presented to a hospital in Jinan, Shandong Province, China with fever and cough. Laboratory blood tests showed hemoglobin level, 96 g/L (reference range, 130-175 g/L); platelets, 21 x 109/L (reference range, 125-350 x 109/L); white blood cell count, 72.06 x 109/L (reference range, 3.5-9.5 x 109/L); and D-dimer concentration, 76.34 mg/L (reference range, 20.00-40.00 mg/L). The bone marrow (BM) aspirate morphology showed hypercellular BM with 97% abnormal promyelocytic granulocytes. Auer bodies were observed in some cells. The reverse transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) failed to detect the PML::RARA transcript in the BM. The karyotype analysis revealed 46, XY, t(11;12) (p15;q14) (10)/45, idem, -Y (7)/46, idem, -Y, +?8 (3). Hence, the patient was diagnosed with AML and was administered a treatment regimen of 20 mg all-trans retinoic acid (ATRA) twice a day in combination with IA induction (idarubicin 10 mg/m2 on days 1-3, 100 mg/m2 cytarabine on days 1-7).\nThree weeks later, the patient was transferred to our hospital with myelosuppression and persistent fever. At the time of admission, blood tests showed hemoglobin, 59 g/L (reference range, 130-175 g/L); platelets, 26 x 109/L (reference range, 125-350 x 109/L); white blood cell count, 3.41 x 109/L (reference range, 3.5-9.5 x 109/L); prothrombin time, 15.9 s (reference range, 11-14.5 s); activated partial thromboplastin, 43.5 s (reference range, 28-45 s), fibrin degradation products (FDP) >150.00 ug/mL (reference range, < 5.00 ug/mL); fibrinogen, 3.56 g/L (reference range, 2.00-4.00 g/L); and D-dimer concentration > 20.0 ug/mL (reference range, < 5.00 ug/mL) ( Figure 1 ). BM cytomorphology still supported APL ( Figure 2B ). Karyotype analysis of the chromosomes was 46, XY, der (11) t (11;12) (p15;q13), -12, +mar [15] ( Figure 2A ). The leukemia cellular immunophenotype was positive for CD117, CD13, CD33, MPO, and CD45dim and negative for CD34, CD38, HLA-DR, CD11b, CD14, and other T- or B-lymphoid lineage markers ( Figure 2D ). Positive NUP98/RARG fusion gene ( Figure 3 ) and mutations were detected in several genes at various frequencies including WT1 (variant allele fraction, VAF, 39%), TET2 (VAF, 5.1%), ARID1A (VAF, 45.9%), and KDM6A (VAF, 23.5%). The patient highest temperature on admission was 39.2 C, and the COVID-19 nucleic acid test was positive. The patient was administered paxlovid as antiviral treatment and other anti-infection treatments. One week later, the COVID-19 nucleic acid test result was negative and the patient still had an intermittent fever. Blood metagenomic next-generation sequencing (mNGS) and blood cultures were performed. Blood cultures were negative, and mNGS identified Escherichia coli. The patient developed abdominal pain, and an abdominal computed tomography (CT) scan showed acute pancreatitis. His pancreatic enzyme levels were elevated, with amylase and lipase levels 806 IU/L (reference range, 30-180 IU/L) and 2310 IU/L (reference range, 23-300 IU/L), respectively. The patient was treated to inhibit pancreatic enzymes. Given his recent infection and poor performance status, the patient was unable to tolerate intensive chemotherapy. On June 13, the patient was treated with 75 mg/m2 azacitidine. However, he developed sudden dizziness, fever (38.0 C), and blood pressure drop (73/45 mmHg) after two days. He was empirically placed on imipenem/cilastatin and tigecycline, administered fluid resuscitation, and started noradrenaline. When the patient's vital signs were stable and the infection was controlled, 135 mg of azacitidine was continued for five days.\nSubsequently, the patient underwent craniocerebral + paranasal sinus CT for headache, which showed abnormal high-density foci in the brain and high density in the left nasal cavity with possible secretion ( Figure 4 ). A consultation with the otolaryngology department suggested a diagnosis of rhinocerebral mucormycosis. The patient's symptoms were relieved after antifungal administration and other treatments (the patient underwent sinonasal debridement at another hospital three months later; the postoperative pathomorphology was considered mucormycosis).\nIn July, BM aspirate morphology confirmed complete remission (CR) with negative minimal residual disease through flow cytometry (FCM) ( Figures 2C, E ). The positivity rate for NUP98 gene rearrangements dropped to 10%. Seven-day therapy with 75 mg/m2 azacitidine was continued. One month later, NUP98 rearrangement was negative. A seven-day treatment with 75 mg/m2 azacitidine was continued.\nIn January 2024, after four cycles of azacytidine treatment, the patient underwent allogeneic hematopoietic stem cell transplantation. Four months after transplantation, the patient remained in CR and was negative for the NUP98-RARG gene fusion ( Table 1 ).",
"gender": "Male"
}
] |
PMC11408469
|
[
{
"age": 48,
"case_id": "PMC10890799_01",
"case_text": "A 48-year-old woman presented with a rapidly growing tumor in her left breast. Biopsy confirmed it as luminal B type-like invasive breast cancer, with ER and PR positivity (Allred 8/8), HER2 negativity, and Ki-67 index of 88%. A follow-up ultrasound, performed 2 weeks after the initial exam, showed growth from 2.0 cm to 2.8 cm. On breast MRI, the tumor was located in the left breast upper outer quadrant, measuring 2.6 cm (online suppl. Fig. 1), and suspicious lymph nodes were not seen, suggesting clinical T2N0M0. Given its aggressive nature and high Ki-67 index, NAC was recommended, and the patient was treated with doxorubicin/cyclophosphamide followed by paclitaxel.\nWGS of the matched normal tissue revealed no pathogenic germline variants associated with breast cancer, including BRCA1 and BRCA2, supporting the tumor's sporadic genesis. Cancer WGS, with 87% tumor cell fraction and an average ploidy of 2.1, identified 10,664 base substitutions, 3,422 indels, 411 structural variations somatically acquired, and genome-wide copy number alterations (Fig. 1a). The decomposition of mutational signatures from the point mutations indicated that 41.0% and 26.4% of the base substitutions and indels were attributable to SBS3 and ID6, respectively, both linked with flawed HR-based DNA repair. The prevalence of large deletions in SVs (41.6%) further suggested a complete defect in the BRCA2 gene. Indeed, the list of somatic driver mutations (online suppl. Table S1-3) encompassed a BRCA2-disruptive inversion accompanied by a LOH (Fig. 1b). In summary, breast cancer exhibited clear HRD due to complete inactivation of BRCA2 by double somatic hits rather than inherited mutations in the germline.\nTraditional HRD calculation, an algorithm which combines LOH, telomeric allelic imbalance, and large-scale state transitions, indicated the sample was below the accepted threshold at 42. The WGS signature-based scoring system, established by combining multiple mutational signatures (such as SBS3, ID6, RS3, and RS5, as well as LOH, telomeric allelic imbalance, and large-scale state transitions) in breast cancers with germline BRCA1/BRCA2 pathogenic variants, deemed the sample HRD-positive (0.99, wherein scores >=0.7 indicate HRD and scores <0.7 imply HR-proficiency). The tumor showed radiologic complete response (CR) on post-NAC MRI, and pathologic CR (pCR) was subsequently confirmed by wide local excision and sentinel lymph node biopsy.",
"gender": "Female"
},
{
"age": 34,
"case_id": "PMC10890799_02",
"case_text": "A 34-year-old woman presented with triple-negative breast cancer, exhibiting a high Ki-67 index of 67%. Breast MRI showed a 2.1 cm tumor in the upper inner quadrant of the right breast (online suppl. Fig. 2a) and an enlarged lymph node suspected of metastasis in the right axillary level I, suggesting clinical T2N1. On additional evaluations, abdomen-pelvis CT revealed bilateral ovarian masses and an enlarged aortocaval lymph node. Despite the bilateral nature of ovarian tumors, pelvic MRI (online suppl. Fig. 2b) showed internal T2 high signal intensity with enhancing solid components, indicating primary ovarian cancers rather than metastases. Although contrast-enhanced MRI has an 81% sensitivity and 98% specificity for ovarian cancer diagnosis, its discernment between primary and metastatic was not definitive. Bilateral salpingo-oophorectomy and histopathology confirmed high-grade serous cystic carcinoma in both, distinguishing them from breast cancer.\nThe patient underwent six cycles of docetaxel and carboplatin. Follow-up imaging exams showed size decrease of the aortocaval lymph node and radiologic CR of the breast cancer in abdomen-pelvis CT and breast MRI, respectively. The patient subsequently underwent interval debulking surgery, which included pelvic lymph node and aortocaval lymph node dissections, paired with a nipple-sparing mastectomy and sentinel lymph node biopsy. There was no residual malignancy in either the aortocaval lymph node or the right breast.\nWGS aimed to determine: (1) potential germline predisposition variants, despite no familial history of BRCA-associated cancer, and (2) the clonal relationship between the ovarian and breast tumors. To this end, two tumor specimens were secured for WGS: one from a breast core needle biopsy and the other one from salpingo-oophorectomy, with blood as matched normal tissue.\nWGS identified a pathogenic germline variant in BRCA1 (c.3593T>A, p.Leu1198Ter) in the matched normal tissue. The breast tumor tissue had a 48% tumor cell fraction, mean ploidy of 3.5, 7,493-point mutations, 268 structural variations, and diverse copy number changes (Fig. 2a), with LOH of BRCA1 and a positive HRD score (0.77). Key driver mutations included MYC amplification (copy number 9), PTEN deletion with LOH, and RAD51B-disruptive variation (intragenic duplication). The ovarian tumor tissue exhibited a 40% fraction, mean ploidy of 4.0, 5,190-point mutations, 268 structural variations, and copy number changes (Fig. 2b). It had an LOH of BRCA1 and an even higher HRD score (0.95). Key driver mutations were a MET amplification, TP53 c.493C>T with LOH, and an NF1-disruptive structural variation (translocation, online suppl. Table S1) with LOH. Both tumor specimens showed LOH of the BRCA1 locus and high HRD scores, suggesting that complete inactivation of BRCA1 gene followed by acquired HRD was the main driver event. Simultaneously, two tumor genomes shared no variants out of thousands of mutations, confirming the dual primary origins.",
"gender": "Female"
},
{
"age": 50,
"case_id": "PMC10890799_03",
"case_text": "A 50-year-old woman presented with luminal B type-like breast cancer with low ER positivity (Allred 4), HER2 negativity, and a Ki-67 index of 59%. Breast MRI identified a 4.2 cm tumor in the right subareolar region and an enlarged lymph node in the right axilla (online suppl. Fig. 3a), indicating clinical T2N1. The patient received NAC with adriamycin/cyclophosphamide, followed by docetaxel.\nWGS results showed a 55% tumor cell fraction, mean ploidy of 1.6, 22,545 base substitutions, 75,150 indels, and 43 structural variations (Fig. 3). Key driver mutations included AKT1 p.E17K, TP53 p.Q104*, RB1 p.G717Rfs* with LOH, and MLH1 splice site variant with LOH (online suppl. Table S1-3). Mutational signature analysis revealed a predominant presence of defective DNA mismatch repair (MMR)-related signatures in the genome profile of this case, accounting for a total of 42.0% of base substitutions (SBS44, SBS6, SBS26) and 99.8% of indels (ID1, ID2), suggesting the presence of MSI in the tumor. Additionally, APOBEC signatures accounted for 32.8% of base substitutions (SBS2 and SBS13).\nWe further evaluated the MSI in the tumor by counting the number of somatic insertions and deletions per million microsatellite loci genome-wide. Typically, a tumor is considered MSI if the rate is over 20%. The tumor's MSI score was 22.5%, suggesting the presence of MSI. To validate the result, we further conducted MSI-PCR and MMR-IHC in the clinic. While RT-PCR of five conventionally tested MSI markers (BAT-26, NR-24, NR-21, NR-27, and BAT-26) did not detect any mutations, immunohistochemical analysis confirmed the absence of nuclear expression for MLH1 and PMS2, a finding indicative of compromised DNA MMR functionality.\nAfter four cycles of adriamycin/cyclophosphamide, breast MRI showed a decreased tumor to 2.6 cm (partial response by RECIST criteria) (online suppl. Fig. 3b). However, in MRI after docetaxel, a tumor size increase (3.2 cm) was suspected (online suppl. Fig. 3c), and disease progression was confirmed through subsequent surgery with a 3.8 cm tumor and five metastatic lymph nodes (5/12), suggesting ypT2N2a.",
"gender": "Female"
},
{
"age": 40,
"case_id": "PMC10890799_04",
"case_text": "A 40-year-old woman presented with invasive breast cancer with ER positivity (Allred 4), HER2 positivity, and a Ki-67 index of 54%. The patient had a history of primary and recurrent sarcomas in the right thigh and paraspinal muscles, respectively, 2 decades prior. She received NAC for breast cancer with docetaxel, carboplatin, trastuzumab, and pertuzumab. WGS was performed in parallel to the standard of care.\nWGS indicated a 74% tumor cell fraction, mean ploidy of 1.9, 4,531 base substitutions, 1,331 indels, and 395 structural variations. Driver mutations (online suppl. Table S1-3) included ERBB2 amplification (copy number: 23) and PIK3CA (copy number: 10). The germline WGS showed a structurally disrupted TP53 due to complex rearrangements involving genomic insertion of a nuclear mitochondrial DNA segment (NUMT; Fig. 4). LOH of TP53 was confirmed in the cancer genome, suggesting that TP53 inactivation was one of the cancer driver events. Given the TP53 variant, the patient was diagnosed with Li-Fraumeni syndrome, aligning with her sarcoma history. Despite the need for genetic counseling, due to the hereditary risk finding, the patient was lost to follow-up.",
"gender": "Female"
}
] |
PMC10890799
|
[
{
"age": 70,
"case_id": "PMC10803402_01",
"case_text": "On April 11, 2022, a 70-year-old female was admitted to The University of Hong Kong-Shenzhen Hospital with 6 months of purulent discharge from the incision wound of left hip arthroplasty. The patient has a medical history spanning over two decades, which includes hypertension, diabetes mellitus, and rheumatoid arthritis. She received metoprolol and amlodipine besylate for blood pressure control and performed regular exercise and dietary control for her diabetes mellitus. Since 2012, she has been taking methotrexate, leflunomide, and hydroxychloroquine for the control of rheumatoid arthritis. In 2009, the patient underwent right hip arthroplasty at an external hospital due to bilateral hip osteoarthritis and avascular necrosis of the femoral head caused by long-term steroid use. Then in July 2020, left hip arthroplasty was performed at our hospital for developmental dysplasia of the left hip with secondary osteoarthritis.\nIn January 2021, the patient experienced pain in her metacarpophalangeal joints along with elevated inflammatory markers leading to the consideration of active rheumatoid arthritis. Her treatment was adjusted to include tofacitinib (5 mg orally once daily) and leflunomide (10 mg orally once daily). However, a distal fistula with exudation was developed at the incision site from the previous left hip arthroplasty in October 2021. Treatment with erythromycin ointment was ineffective, therefore she was referred to our hospital for further management.\nUpon admission, the patient had a body temperature of 36.8 C, a blood pressure of 116/74 mmHg, a pulse rate of 76 beats per minute, and a respiratory rate of 18 breaths per minute. Physical examination revealed no palpable superficial lymph nodes except a local fistula at the distal end of the incision site from her previous left hip surgery (Figure 1A). Transparent, clear, and viscous fluid was expressed from the fistula. No erythema or swelling was observed around the incision site, and there was no tenderness at the hip joint. Blood tests revealed a white blood cell count of 6.61 x 109/L (normal range, 3.89-9.93 x 109/L), with 61.6% neutrophils and 31.3% lymphocytes, a hemoglobin level of 115 g/L (normal range, 115-148 g/L), and a creatinine level of 150umol/L (normal range, 44-80umol/L). The erythrocyte sedimentation rate was elevated at 71 mm/h (normal range, 0-20 mm/h), while C-reactive protein levels were also increased to 12.47 mg/L (normal range, 0-5 mg/L). Other laboratory tests including liver function, procalcitonin, and rheumatoid factor showed no significant abnormalities.\nOn April 13, a sample of pus from the fistula was collected for aerobic and anaerobic bacteria culture. Gram stain of the specimen revealed a moderate number of leukocytes but no organisms were seen. After 2 days of incubation, scanty growth of coagulase-negative Staphylococcus and Listeria monocytogenes were identified. Additional pus was collected 4 days later, with pure growth of Listeria monocytogenes isolates. Two sets of blood cultures were taken with incubation for 14 days, and additional stool specimens were sent with enrichment using blood agar with aztreonam, but these results were unremarkable. On April 22, whole-body bone scintigraphy (Technetium 99 m-methyl diphosphonate) showed an increased bone metabolism around the stem of the left femoral prosthesis and an increased radionuclide uptake in the blood pool phase, suggesting postoperative chronic infectious lesions (Figure 2). On April 24, magnetic resonance imaging (MRI) of the left hip joint showed inflammatory exudation around the upper end of the femur and surrounding soft tissue, and a subcutaneous abscess with fistula formation in the upper thigh (Figure 3). Transthoracic echocardiography and cranial MRI were performed, but no significant abnormalities were found. Upon further history taking with a food questionnaire, the patient reported consumption of pasteurized milk stored in the refrigerator, and she developed mild gastroenteritis approximately 1 month before infection. It is suspected that the patient may have consumed dairy products contaminated with L. monocytogenes, which entered the bloodstream via the gastrointestinal tract and then spread to the hip joint. Therefore, the patient was diagnosed with listeriosis presenting as a late-onset prosthetic left hip infection.\nThe antimicrobial susceptibility testing of L. monocytogenes showed penicillin minimum inhibitory concentration of 0.19 mug/mL. The strain was susceptible to penicillin according to the CLSI standards. The zone size of trimethoprim-sulfamethoxazole, gentamicin, and meropenem using disk diffusion tests were all within the susceptible range. A renal-adjusted dose of intravenous infusion of ampicillin 2 g every 8 h was initiated on April 22, with regular dressing of the fistula site. The option of a combination of antibiotics with surgical management was offered to the patient, but it was refused by the patient. The antibiotics regimen was stepped down to life-long suppressive amoxicillin 500 mg every 12 h after 2 weeks of intravenous antibiotics. The patient did not experience any side effects of antibiotics or relapse of infection during therapy (Figure 4). The fistula was reported to be completely healed during a telephone follow-up in June 2023 (Figure 1B).",
"gender": "Female"
}
] |
PMC10803402
|
[
{
"age": 14,
"case_id": "PMC10750510_01",
"case_text": "A 14-year-old child with a history of neurofibromatosis type 1, end-stage chronic renal failure on hemodialysis, currently presents with mandibular swelling that had been increasing in size for 6 months.\nOn clinical examination, the child presents with scoliosis associated with cafe-au-lait spots, and a slight deformation of the lower limbs. (Figure 1) with a general deterioration in health. A computed tomography facial scan was requested to characterize the swelling and search for other locations\nA computed tomography facial scan revealed an osteolytic lesional process of the mandibular body lateralized on the left, well limited, with regular contours, multilocular, blowing the cortical bone which is laminated, not enhancing, without cortical lysis, nor periosteal reaction in gaze, pushing back the dental roots (Figure 2).\nIt is associated with a second lesional process at the level of the upper left alveolar process, having the same characteristics (Figure 3)\nThickening of the cranial vault and all the bones of the facial bones with a pepper and salt appearance (Figure 4).\nMultiple lacunar foci of osteolysis of the cranial vault, the spinous processes of the cervical spine and the left clavicle (Figure 5).\nGiven the context of chronic renal insufficiency and the appearance on the scanner, a brown tumor was mentioned as part of secondary hyperparathyroidism with a low probability of fibro-cystic dysplasia, a parathormone assay is then requested and which came back greatly increased (2050 pg/mL; normal range 12-72 pg/mL), the biological assessment also showed a serum calcium level of 9 mg/dL (normal range, 8.8-11 mg/dL), phosphorus: 4 mg/dL (normal range, 2.5-5 .0 mg/dL), alkaline phosphatase: 1560 IU/L (normal range, 65-300 IU/L), and a 25-hydroxyvitamin D level of 18 mug/L (normal range: >20 mug/L)\nThe child received medical treatment (calicimimetics and vitamin D) to reduce the parathormone level and for the disappearance of the lesion, but the evolution is marked by the persistence of the brown tumor and the alteration of the general condition currently making surgical intervention impossible.",
"gender": "Unknown"
}
] |
PMC10750510
|
[
{
"age": 68,
"case_id": "PMC10601690_01",
"case_text": "A 68-year-old female patient developed partial oculomotor nerve palsy on her left eye. Computed tomography (CT) angiography revealed a giant wide-neck aneurysm of the cavernous segment on the left internal carotid artery (ICA). The first endovascular attempt to implant a flow diversion device (FDD) failed. The interventional radiologist could not bridge the aneurysm with a microcatheter by the orthograde approach due to a stenosis in the outflow segment of the left ICA distal to the aneurysm (Fig. 1). Because the patient was fine after the procedure, the aneurysm was approached in a retrograde fashion from the right ICA via AComA 1 month later. The microcatheter was successfully introduced through the right ICA and aneurysm to the C1 segment of the left ICA. The tip of the catheter was caught by another lasso catheter inserted into the left ICA. However, any attempt to pass the left catheter through the aneurysm by pulling on the right one was unsuccessful. The outflow stenosis of the left ICA made any attempt (to bridge the aneurysm and implant the stent) unsuccessful (Fig. 2). The procedure was therefore concluded by performing a balloon occlusion test of the left ICA with adequate collateral blood supply on angiography without clinical presentation (Fig. 3). In such circumstances, deconstructive treatment by occluding the left ICA with the coiling of the aneurysm seemed to be safe and planned for the next session. Unfortunately, shortly after the procedure, the patient became unconscious and had to be intubated. A CT angiography scan revealed subarachnoid hemorrhage with a contrast leak from the A1 segment of the left anterior cerebral artery (ACA). An immediate coiling of the segment was performed (Fig. 4). Because the patient developed acute hydrocephalus, an external ventricular drain was inserted. The patient slowly recovered and extubated after 3 weeks. At the time of discharge, the patient suffered from psychomotor slowing, and oculomotor nerve palsy remained unchanged. There was no sign of ischemic brain stroke, but a small low-density spot in the left head of the caudate was detected by CT scan.\nBecause of the extremely complicated course of any endovascular treatment attempt, we changed from an aggressive to a wait-and-watch strategy. After 7 months, the patient was referred back to our department. Suddenly, the patient developed a headache, right-sided hemiparesis, global aphasia, ophthalmoplegia, chemosis, ptosis, and ocular bruit. CTA showed a thrombosed aneurysm with a pathological filling of the orbital veins. DSA revealed the direct carotid cavernous fistula with a typical venous outflow to the petrosal and cavernous sinus and the ophthalmic vein (Fig. 5). Because the A1 segment of the left ACA was occluded by previous emergency coiling, the collateral blood flow was weak, and occlusion of the left ICA without bypass was no longer an option. Thus, a high-flow ECA-MCA bypass using radial artery interposition graft and clipping of the M1 segment of the MCA was performed. Subsequently, imminent coiling of the aneurysm and occlusion of the left ICA were done endovascularly. DSA showed only low blood flow in the arterial graft (Fig. 6). The patient was monitored in the intensive care unit. Aspirin (100 mg per day) and enoxaparin (0.4 mL per day) were administered. The targeted mean arterial pressure was 110-120 mm Hg. Following the procedure, the patient was hemodynamically unstable, treated with catecholamines and intensive volume therapy. The next day, the patient had a Glasgow Coma Scale (GCS) of 3 but recovered within 6 days to GCS 15. At discharge from our department, the patient suffered from disorientation, mild global aphasia, memory deficit, and complete third-nerve palsy. After intensive rehabilitation, the patient fully recovered from aphasia, memory deficit improved partially, but oculomotor palsy remained unchanged at the last follow-up (6 months after bypass surgery). DSA and CTA indicated good blood flow in the arterial graft with significant blood filling of the middle cerebral artery branches (Fig. 7, 8).",
"gender": "Female"
}
] |
PMC10601690
|
[
{
"age": 6,
"case_id": "PMC11135898_01",
"case_text": "The 6-year-old girl is the eldest of three children belonging to a consanguineous couple. The patient in this report was born at term, weighing 2.9 kg and measuring 50 cm, by vaginal delivery, Apgar score of 8/9. In the neonatal period, she evolved with an ischemic stroke in the left middle cerebral artery with hemorrhagic transformation probably associated to polycythemia (hematocrit=69%). However, it was not possible to define by imaging exams whether the alteration had occurred intrauterinely or postnatally. The child was followed up in a hematology service until the age of four, where tests were carried out for hereditary thrombophilia and vasculitis.\nPolymerase chain reaction (PCR) analysis performed at 21 months of age evidenced the presence of the factor V Leiden mutation in heterozygosis, an alteration that possibly contributed to the stroke in the neonatal period. There were no mutations in the prothrombin gene, and low levels of factor VIII were reported (39%). Antibody testing for anticardiolipin and lupus anticoagulant, which may be associated with thrombosis, was negative, as well as the investigation for systemic sclerosis, through the determination of anti-fibrillarin, anticentromere, and anti-DNA topoisomerase I antibodies. Tests to identify antinuclear antibodies (ANA), rheumatoid factor, and C-reactive protein were normal.\nRegarding phenotypic changes, the patient at birth had a normal appearance but during the first year of life mild abnormalities appeared, such as hair loss and whitish lesions in the joints of the hands at four months of age, and hyperchromic spots on the body at six months. She evolved with normal developmental parameters, having acquired independent walking at 14 months. At the age of two, she was evaluated in a specialized hospital and, according to the medical report, presented weight, height, and head circumference below the 3rd percentile, dysmorphic face characterized by thin skin, sharp nose, hypoplastic malar region, prominent cranial veins, irregular skin discoloration, shortage of subcutaneous fat, rigid finger joints, and fine hair with alopecia in the occipital region.\nLaboratory tests performed, such as a screening for innate metabolism errors and organic acidemias, transferrin isoelectric focusing, molecular genetic test for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), karyotype, serum dosage of thyroxine, thyroid stimulating hormone, aspartate aminotransferase and alanine aminotransferase, were all normal. Imaging exams revealed osteolysis of the distal phalanx (fingers and toes), decreased bone density, deformity of the hip joints, hypoplasia of the head of the radius and clavicles, widening of the sagittal sutures.\nThe patient displayed progressive clinical worsening. At four years of age, after a trauma in both knees, the joints were fixed in a flexible position, and she was unable to walk anymore. At six year of age, the child had the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips (Figures 1A, 1B and 1C), generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness (Figure 1D), and bone reabsorption in the terminal phalanges (Figures 1E and 1F).\nIn dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed (Figures1D to 1G). Diffuse gingivitis with bleeding and presence of significant crowding of the teeth were noted. The marked microretrognathia and glossoptosis, causing significant upper airway obstruction, culminated in the placement of a tracheostomy. The computed tomography (CT) scan of the facial bones allowed the detection of hypoplasia of the mandible branch, with absence of the condyles bilaterally and teeth crowding (Figure 2A).\nFurther radiographic exams revealed clavicles bilaterally absent with the presence of local amorphous bone mass confluent with the scapulae (fused acromioclavicular joints) (Figure 2B), humerus and sho ulder joints with subluxation and major bone dysplasia (Figure 2C), hip dysplasia (Figures 2D and 2E), significant osteopenia, and subcutaneous calcifications (Figures 2E and 2F). Cardiac CT performed to assess the coronary calcium score did not demonstrate coronary artery disease.\nComplete hemogram, renal and liver function tests, serum glucose, parathormone levels, calcium, phosphorus, alkaline phosphatase and 25-hydroxy vitamin D were within normal limits. High levels of cholesterol (191 mg/dL, normal range: <150 mg/dL) were detected, and serum lipid profiles showed an increase in low-density lipoprotein cholest erol (102 mg/dL, normal range: <100 mg/dL).\nThe genomic DNA isolated from oral epithelial cells was amplified by PCR with primers designed to all exons and flanking intronic regions of LMNA and ZMPSTE24 described (http://www.hgmd.cf.ac.uk/ac/all.php, Supplementary Table 1). After amplification, PCR products were cleaned up and sequenced with a BigDye Terminator v3.1 Cycle Sequencing kit (Applied Biosystems, CA, USA). The sequences were analyzed with a 3500 Genetic Analyzer (Applied Biosystems, CA, USA). The genetic analysis detected the mutation c.1579C>T, p. R527C in the exon 9 of LMNA, compatible with the diagnosis of MADA. The analysis of the patient's parents confirmed the autosomal recessive transmission of the c.1579C> T mutation in exon 9 of the LMNA gene (Figure 2G).",
"gender": "Female"
}
] |
PMC11135898
|
[
{
"age": 73,
"case_id": "PMC10656799_01",
"case_text": "A 73-year-old female was referred to the dermatology clinic in February 2020 for suspicion of shingles on the left breast. She had no history of skin disease. Her past medical history included infiltrative lobular carcinoma on the left breast for which she had a total left mastectomy with reconstruction in April 2016, and a cutaneous metastasis on the left breast operated in October 2019. She had a history of breast cancer on the same site treated with radiotherapy back in 1996. Her other medical conditions included diabetes, hypertension, dyslipidemia, and a thyroid nodule. She has been taking letrozole since September 2019, as well as indapamide, perindopril, and esomeprazole for many years. At the first visit in February 2020, the patient had a localized eczematous dermatitis on the left breast with a few erosions, that were treated with topical betamethasone valerate and fusidic acid ointment. The patient returned in July 2020 with two hemorrhagic bullae of 1.5 x 0.5 cm on the left breast, surrounded by multiple milia on an erythematous base (Figures 1 and 2). At this point, localized auto-immune bullous disease was suspected. A biopsy with direct immunofluorescence and salt split was performed. A sub-epidermal bulla containing few inflammatory cells overlying a dermis containing granulation tissue with multiple eosinophils and lymphocytes was seen (Figure 3). Discontinuous linear IgG deposits (++) and granulo-linear C3 deposits (++) were seen at the roof of the basement membrane zone. Anti-basement membrane antibodies were detected at 1/1280. A diagnosis of localized bullous pemphigoid on a previous site of radiotherapy was made. The patient was treated with topical corticosteroids (betamethasone dipropionate then clobetasol propionate) with excellent response. She had a complete resolution of the bullae 2 months later, and a good clinical response was maintained at the last follow-up in April 2021.",
"gender": "Female"
}
] |
PMC10656799
|
[
{
"age": 36,
"case_id": "PMC11290337_01",
"case_text": "The patient is a 36-year-old right-handed Chinese married woman. The patient presented with initial symptoms of bilateral leg fatigue, difficulty initiating steps, and a loss of lower limb control. Subsequently, the patient's symptoms gradually progressed to limb rigidity, limited knee joint mobility, and intermittent difficulty initiating movements. Eventually, both walking and standing functions were affected. At an early stage of the illness, the patient was diagnosed with a \"somatic symptom disorder\" at a major medical center according to the physical symptoms at the time. Subsequently, the patient's condition evolved and progressed, with the manifestations of mental and psychological symptoms, such as anxiety, depression, paranoia, and obsessive-compulsive disorders. Accordingly, the patient was examined at a local neurology specialist hospital. Considering increased autoimmune thyroid antibody levels and the physical clinical symptoms, the patient was diagnosed with \"Hashimoto's thyroiditis and Hashimoto's encephalopathy.\" The patient's symptoms improved with steroid treatment; however, discontinuation of steroids led to the recurrence of gait disturbance.\nThe patient initially received intravenous methylprednisolone at a dosage of 0.5 g per day for 5 days, followed by oral prednisone at a dosage of 40 mg per day, with a weekly reduction of 10 mg until 10 mg per day. Additionally, the patient was administered supplemental mycophenolate mofetil at a dosage of 0.25 g (bid), with an increment of 0.25 g per week until 0.5 g (bid) of mycophenolate mofetil. Furthermore, clonazepam (a daily dosage of 0.5 mg) and tizanidine were orally administered to the patient. Following this protocol, the patient experienced a significant improvement in limb stiffness and pain, along with increased ease in movement and the ability to climb stairs. Moreover, serum C3 complement levels returned to normal levels, while C4 complement levels remained unchanged (Supplementary Table 6).",
"gender": "Female"
}
] |
PMC11290337
|
[
{
"age": 61,
"case_id": "PMC10959543_01",
"case_text": "A 61-year-old female with a 10-year history of hypertension was being treated with enalapril 10 mg po qd. She received a consultation from a general practitioner for a 2-year clinical presentation characterized by asthenia, adynamia, thick cardboard-like skin, sclerodactyly (Fig. 1), limited ability to open her mouth, and a 10-kg weight loss associated with dry eye and mouth with no other manifestations. There was no evidence of elevated basal creatinine values, and the patient denied the presence of kidney disease. The first laboratory results sent by the general practitioner showed serum creatinine of 1.53 mg/dL, urea of 40 mg/dL, urinalysis with uncountable erythrocytes, and proteinuria +++ (qualitative evaluation).\nThe 3-month serology work-up presented elevated levels of serum creatinine (5.5 mg/dL) and urea (122 mg/dL) and a urinary protein-to-creatinine ratio (PrU/CrU) of 4.9 g/g (Fig. 2). The patient was referred to our tertiary care hospital for further evaluation and laboratory testing. In the nephrology consultation, the presence of countless erythrocytes with more than 50% dysmorphic RBC was reported. A diagnosis of rapidly progressive glomerulonephritis (RPGN) was established. Due to the increase in levels of nitrogen compound up to creatinine 5.7 mg/dL and urea 182 mg/dL, a hemodialysis catheter was inserted, and hemodialysis was initiated. Further immunological work-up revealed anti-Ro of 96 U/mL (positive), anti-La of 141 U/mL (positive), anti-SCL-70 of 702.92 U/mL (positive), anti-MPO (positive), and anti-PR3 (negative). A salivary gland biopsy was consistent with Sjogren syndrome. In a rheumatology consultation, overlap syndrome of diffuse systemic sclerosis and Sjogren syndrome were diagnosed, with a modified Rodnan score of 15/51 points.\nAfter the initiation of hemodialysis, a kidney biopsy was performed, in which extracapillary glomerulonephritis with fibrous predominance (EUVAS-Berden sclerotic class), active tubulointerstitial nephritis rich in plasma cells, focal tubular injury, and narrowing of the arterial diameter with marked fibrotic changes in the intima were identified (Fig. 3 a-j). An overlap syndrome of systemic sclerosis, Sjogren syndrome, and anti-MPO ANCA-associated vasculitis (microscopic polyangiitis) were diagnosed according to the ACR-EULAR Criteria. Extrarenal involvement of vasculitis was excluded with sinus cavity tomography and high-resolution lung tomography. The abnormal finding on the tomography was esophageal dilatation and data suggestive of early pulmonary hypertension, both attributed to scleroderma. Screening for systemic sclerosis was performed with transthoracic echocardiography and right heart catheterization with normal values, ruling out pulmonary hypertension. Upper gastrointestinal endoscopy was performed with normal findings. Esophageal manometry could not be performed to rule out esophageal dysmotility, but it was suspected based on the tomographic findings. Induction treatment was started based on the results of the renal biopsy with methylprednisolone 1 g/day for 3 days followed by prednisone with a reduction phase as proposed by the PEXIVAS study. Additionally, a CYCLOPS scheme with intravenous cyclophosphamide at a dose of 12.5 mg/kg was used in weeks 0, 2, 4, 7, 10, and 13. As maintenance treatment, a low-dose steroid regimen was established with prednisone 5 mg/day and mycophenolate mofetil 500 mg po bid. This treatment regimen was established by a rheumatologist based on the multisystem involvement of systemic sclerosis and the absence of recurrence risk factors for ANCA-associated vasculitis, with progressive improvement. During hospitalization, the patient required temporary withholding of the ACE inhibitor due to blood pressure at the lower limit. Which was reintroduced as soon as the pressure improved. A year later, at the clinical level, there was improvement in asthenia, thick cardboard-like skin, and sclerodactyly, and the modified RODNAN score was reduced to 5/51 points, as reported by Rheumatology. The Birmingham Vasculitis Activity Score (BVAS) score improved with no signs of reactivation except for the chronic involvement mentioned above. Her serum creatinine was reported to be 2.6 mg/dL; urea, 132 mg/dL with no erythrocyturia; and the PrU/CrU, 0.41 gr/gr, with no requirement for kidney replacement therapy. Given the interstitial involvement with interstitial fibrosis and tubular atrophy of over 50%, the patient was not expected to recover renal function as initially reported and was diagnosed with chronic kidney disease (KDIGO G4A2).",
"gender": "Female"
}
] |
PMC10959543
|
[
{
"age": 71,
"case_id": "PMC10493128_01",
"case_text": "A 71-year-old woman presented to our hospital with complaints of skin erythema, pain, and pus discharge on the back of her right hand for half a month. She developed symptoms of fatigue and asthma due to acute exacerbation of COPD. Hence, she received intravenous infusion of cefoperazone sulbactam for anti-infection, betamethasone for anti-inflammation, and other drugs to relieve cough phlegm, and asthma at a local hospital.\nAfter venipuncture on the back of the right hand, the skin became red, swollen, painful, and started discharging pus. Half a month later, the symptoms gradually worsened and she was admitted to our department. In combination with the characteristics of her skin lesions, fungal culture and pathological features of the affected skin tissues, and molecular biological identification techniques, the case was diagnosed as cutaneous and subcutaneous infections caused by Purpureocillium lilacinus (as shown in Figure 1).\nWe performed a skin biopsy of the red nodules on the right forearm. The pathological examination showed focal rupture of the squamous epithelium in the examined tissue, along with a large number of neutrophils. The tissue stained positive for periodic acid-Schiff and hexamine silver staining.\nAdditionally, we obtained pus and subcutaneous tissue from the dorsal skin of her right hand for bacterial smear and culture, fungal smear and culture, and acid-fast bacillus smear. The result showed negative acid-fast staining, occasional Gram-negative bacilli in the general bacterial smear, yeast-like fungal spores and hyphae in the fungal smear examination (Gram staining), growth of various coagulase-negative staphylococcus in the bacterial culture of pus and tissues, and the presence of Paecilomyces species in the fungal culture of pus and tissue. Mass spectrometry confirmed the identification of Paecilomyces (as shown in Figure 2A-C).",
"gender": "Female"
}
] |
PMC10493128
|
[
{
"age": 62,
"case_id": "PMC10478204_01",
"case_text": "A 62-year-old woman has been suffering from upper abdominal pain for six months. Gastroscopy revealed an esophagogastric junction lesion, and subsequent pathology confirmed the diagnosis of cardia Signet-ring cell carcinoma (H22-07643). Thoracic and abdominal CT scan revealed thickening of the cardia wall, which was considered malignant. Multiple small hemangiomas of the liver. Left lung upper lobe calcified spots. Clinical stage cT3N1M0.\nAfter all the examinations were completed, neoadjuvant chemotherapy combined with immunotherapy was performed. The chemotherapy program XELOX (injection oxaliplatin (T) 200mg + capecitabine 1.5g 2/day d1-d14), and at the same time the patient administrated with tirilizumab as immunotherapy. The process was smooth and there was no obvious adverse reaction. One month after two cycles of neoadjuvant chemotherapy combined with immunotherapy, chest and abdominal CT scan was rechecked, and the tumor was significantly shrank compared with the preoperative CT. The tumor lesion achieved partial response (PR) and the sum of the largest diameters of the target lesions was reduced by about 50% ( Figure 1 ). After preoperative examination, there was no relevant contraindication. Left-sided transthoracic and gastric cardiac cancer resection and esophagogastrostomy were performed. The surgically resected tumor, which is approximately 5x4x1 cm in size, is located on the small curvature side of the gastric cardia. Tumor and lymph nodes unrelated to the pericardium. Intraoperatively, a rib spreader was used in order to ensure surgical visualization. The heart may be slightly squeezed during chest-opening surgery, but hemodynamic stability is achieved. The operation was successfully completed. The patient is then returned to the ward.\n48 hours after surgery, the patient presented with sudden onset of panic, chest tightness, tachycardia, and hypotension. There is no evidence of bleeding, and a minor amount of pleural effusion is present on both sides of the left chest as a result of the operation. Blood gas analysis is normal. Although myocardial ischemia was suspected, the emergency ECG revealed low voltage in the limb leads and an aberrant T wave in the anterior wall leads. The critical cardiac troponin I (cTnI) concentration was 1.4 mug/L. Echocardiography showed a small to moderate amount of pericardial effusion. Measurement of 19 cmH2O central venous pressure is required. The patient's persistent hypotension was treated with intravenous injection of norepinephrine. While preparing for ultrasound-guided pericardiocentesis, the patient stated that her extremity pain and chest tightness were worsening. Then sudden loss of consciousness. Cardiopulmonary cerebral resuscitation and tracheal intubation were performed immediately. After pericardiocentesis, the patient was inserted into the pericardial drainage tube and recovery of spontaneous rhythm occurred within 9 minutes. Drainage fluid of dark red blood totally 460ml was withdrawn. Despite improvement in the patient's hemodynamics and awareness, blood pressure remains low. Three hours later, echocardiography revealed heterogenous hypoechogenicity of the pericardium. The left ventricular posterior wall was 2.1cm thick, the left ventricular lateral wall was 1.2cm thick and the thickness of the apical part was 1.1cm. The movement of the left ventricular was limited. Thoracotomy was then carried out immediately.\nWith a patient's heart rate of 125 bpm and an arterial pressure of 70/50mmHg. The tripartite staff is fully prepared. In an attempt to ensure hemodynamic stability during anesthesia. Once general anesthesia has been successfully achieved, assume the right recumbent position and enter the thoracic cavity through the original incision. Notice that the pericardium is complete and smooth, and that there is no bleeding spot on the surface. The pericardium is incised approximately 6cm behind the phrenic nerve, and dark red blood clots of approximately 60ml. ( Figure 2A ) A small blood vessel on the myocardial surface can be observed on the lateral wall of the left ventricle, with angiomatous changes and active hemorrhage ( Figure 2B ).\nUsing 4/0 prolene with a knitted \"U\" joint for stitching. Patients' hemodynamics were subsequently improved. Transferred to the ICU for further treatment postoperatively.\nPostoperative cTnI, BNP, and other biomarkers of myocardial injury progressively decreased. Hemodynamics gradually stabilized. Postoperative pathology(22-35953): Signet-ring cell carcinoma, tumor regression Grade 2, ypT1bN0M0. Follow-up to the current 9 months is good. Further chemotherapy was performed last month, and the process was successful.",
"gender": "Female"
}
] |
PMC10478204
|
[
{
"age": 58,
"case_id": "PMC11067492_01",
"case_text": "A 58-year-old male patient was admitted to the hospital on August 5, 2022, due to \"cough, phlegm, and chest tightness for 1 month, aggravated for 1 week\". The patient had no obvious cause for coughing up green phlegm a month ago. After exercise, he felt chest tightness and shortness of breath. Since the onset of the illness, the patient's mental status, appetite, and sleep have been normal, and there have been no significant changes in bowel movements, decreased physical strength, or body weight.\nHistory of anti-tuberculosis treatment: (1)In 1996, anti-tuberculosis treatment was received for pulmonary tuberculosis and the treatment was stopped by the patient after 2 months. (2)In August 2011 and May 2016, sputum smears (+) and tuberculosis cultures (+); drug sensitivity testing showed full sensitivity, and both were treated according to the retreatment plan for 1 year. During this period, chronic cough and dyspnea after exercise gradually appeared. (3)In September 2019, the patient hospitalized again due to hemoptysis; drug sensitivity testing of tuberculosis culture showed resistance to rifampicin, rifabutin, and pyrazinamide; he underwent \"catheter arterial embolization\" and received anti-tuberculosis treatment with LZD-CS-LFX-PTO-Am (LZD: linezolid, CS: cycloserine, LFX: levofloxacin, PTO: pyrazinamide capsules, Am: amikacin) until May 2020, then he stopped the treatment.\nPreoperative examination and diagnosis: white blood cell (WBC) count was 13.91 x 10^9/L; C-reactive protein (CRP) was 86.70 mg/L; brain natriuretic peptide (BNP) was 6804.00 pg/ml; erythrocyte sedimentation rate (ESR) was 55.00 mm/h; cardiac ultrasonography showed right heart enlargement, tricuspid regurgitation, and reduced left ventricular diastolic function; electrocardiogram showed 1. sinus tachycardia, 2. left anterior branch block, 3. anterior wall abnormal Q wave, 4. pulmonary P wave; chest CT indicated that the left lower lung lesion had worsened compared to before. Sputum tuberculosis RNA was positive; STB (4 +) * 3. The main diagnoses were: 1. Chronic obstructive pulmonary disease with acute lower respiratory tract infection, type II respiratory failure; 2. Pulmonary heart disease, heart function grade III; 3. Rifampicin-resistant tuberculosis, secondary pulmonary tuberculosis, both lungs, smear (+) retreatment with cavity; 4. Bronchiectasis and infection combined with pulmonary fungal infection.\nTreatment after hospitalization: Anti-tuberculosis medication and symptomatic treatment: According to drug sensitivity and treatment history, LZD-CFZ-CS-LFX-PTO-PAS anti-tuberculosis treatment was given (CFZ: clofazimine, PAS: Para-aminosalicylic acid). Interventional treatment: Two weeks after admission, the patient coughed up about 100 ml of fresh blood in the early morning; emergency CTA examination was performed. After the hemoptysis exacerbated, with an amount of about 300 ml, emergency \"catheter arterial embolization\" was performed. Deciding to undergo surgery: The day after embolization, the patient coughed up about 300 ml of fresh blood again, accompanied by urinary incontinence, profuse sweating, blood pressure of 85/52 mmHg, oxygen saturation (SpO2) of 88% (3 L/min), heart rate of 115 beats/minute, and shallow coma. The patient and his family refused to undergo action thrombosis treatment again and strongly demanded surgery.\nIntraoperative management: Emergency thoracoscopic-assisted extrapleural left lung resection with fibrous peel removal, thoracic gauze packing and tracheal stump myoplasty. During the operation, there was extensive adhesion of the thoracic cavity and severe bleeding from the wound, with an average bleeding volume of over 100 ml every 10 min and a total estimated blood loss of about 4000 ml, and the blood pressure could not be measured for a period of time. A large amount of blood transfusion was given, combined with norepinephrine and epinephrine to maintain blood pressure. Conventional methods such as electrocoagulation, argon plasma coagulation, and medical hemostatic agents were tried, but the effect was not satisfactory. Compressing with hot saline gauze could relieve bleeding, but bleeding continued after removing the gauze, so thoracic gauze packing was performed. The specific method is to firmly link the gauze with a suture knot, fill the gauze from the periphery to the incision with the surgical incision as the center, and place the end of the last piece of gauze outside the incision. Then suture the wound one by one, avoiding the gauze being sutured to the chest wall and leaving the incision to ensure that the gauze can be removed (Fig. 1).",
"gender": "Male"
}
] |
PMC11067492
|
[
{
"age": 15,
"case_id": "PMC11399689_01",
"case_text": "A 15-year-old boy presented with severe pain & swelling in the both lower limbs which hindered his ability to walk for 1 month. According to the patient, there was no history of trauma to the foot that could explain the onset of pain. The patient further complained of daily spiking fevers for 10 days and difficulty breathing for 1 day and no history of rash. He was taking over the counter medicines for above complaints. There was no family history of autoimmune diseases including JIA. Past history revealed cataract of left eye for which he was operated at 8 years of age and wearing spectacles for refractory error in other eye. The first episode occurred at the age of 12 years and recurrence of right and left ankle arthritis has since been reported relieved by NSAIDs administration. Review of the clinical history revealed that his father & mother had died at a young age of an unexplained illness. In view of family history, screening for HIV was carried out. The boy was found to be seropositive. Immunizations of the patient were all up to date (Fig. 1, Fig. 2).\nPhysical examination revealed that he was underweight weighing 36 kg and was 166 cm in height. He had pallor and was febrile on admission (102 F). On palpation bilateral cervical and inguinal lymphadenopathy with hepatosplenomegaly was noted. Local tenderness and swelling were detected in the left & right ankles with pes cavus deformity. other vital parameters were within range. Patient Bilateral knee joint tenderness was also detected. Initially, blood picture demonstrated that the patient was anemic (Hb: 2.6 g/dl) and had features suggestive of inflammation, that is, highly elevated C-reactive protein (CRP) (161 mg/l), and erythrocyte sedimentation rate (ESR) (46 mm/h) values, accompanied with leukocytosis (12,100 cells/cu mm) and thrombocytosis (524,000 cells/cu mm). General blood picture suggestive of macrocytic blood picture with retic count (3 %). Iron studies and serum vit B12 were normal. There was a decrease in serum ionic calcium levels (1.05 mmol/l) and serum vitamin D levels (10.6 ng/ml). Rheumatoid factor (RF), anti-nuclear antibodies (ANAs), ANTI-CCP and ASO titre was tested negative in the patient. Other parameters such as blood glucose, serum creatinine and blood urea, were found to be normal. Liver function tests apart from hypoalbuminemia (serum albumin: 2.9 g/dl), portrayed no abnormalities. Synovial fluid (ankle) was turbid yellowish colour and showed protein (5.6 gm %), total nucleated cells (1200 cells/cumm), mononuclear (55 %), polymorphs (45 %), macrophages (present) and negative for fungal, mycobacterial and malignant cells. Blood and synovial fluid cultures were sterile thereby excluding septic arthritis. Urine culture showed Enterococcus spp. sensitive to linezolid and nitrofurantoin. Ultrasound detected evidence of chronic cystitis and no other associated abnormalities. CECT abdomen suggestive of mesenteric and retroperitoneal lymphadenopathy with splenomegaly. Eye examination was normal. Bone marrow aspiration and biopsy was done including culture for bacterial, mycobacterium and fungus. It showed macrocytic picture without features of megaloblastic anemia, malignancy, granulomas or haemophagocytosis. Urinary histoplasma antigen and serum cryptococcal antigen was negative. Serum ferritin, LDH, fibrin degradation products (FDP) and triglyceride were within normal limit. After excluding all other possible diseases, a possibility of HIV associated arthritis or Juvenile Idiopathic Arthritis was made and the boy was started on anti-retroviral therapy (lamivudine, abacavir and lopinavir) with oral antibiotics. Naproxen was started and then oral prednisolone @ 1 mg/kg/day was added due to inadequate response and prednisolone tapered gradually in 3 weeks. Packed red blood transfusions were done. Naproxen was gradually withdrawn and methotrexate and folinic acid was added. Patient had improvement in his symptoms and continues to be on ART and was given physiotherapy for better mobility.",
"gender": "Male"
}
] |
PMC11399689
|
[
{
"age": 66,
"case_id": "PMC11342832_01",
"case_text": "A 66-year-old man developed progressive tremor in his hands at the age of 40. At age 50, he was unable to write or perform activities of daily living, such as eating and drinking water, due to tremor. His tremor was partially responsive to clonazepam, but he was still disabled from his hand tremor. His brain magnetic resonance imaging (MRI) demonstrated no cerebellar atrophy. He was diagnosed with essential tremor. He underwent staged bilateral cZi DBS surgery at the age of 64, with a three-month interval between the placements of the left and right cZi DBS leads. He had no complications during the DBS surgeries. His post-operative computed tomography confirmed the lead placements in bilateral cZi. However, he developed profound unsteady gait and slurred speech, symptoms of cerebellar ataxia, after the second stage of the cZi DBS surgery, before the DBS was programmed. During initial DBS programming at the frequencies of 130-185Hz, his tremor improved but his cerebellar ataxia remained. To exclude the possibility that cerebellar ataxia was produced by the prelemniscal fiber stimulations, his DBS was subsequently turned off, but his cerebellar ataxia persisted to the degree that he could no longer walk independently, and his speech became difficult to understand.\nHe then came to Columbia University Ataxia Center for a second opinion. On exam, he had severe gait ataxia, and he could not walk without assistance. His hand movements were impaired by a combination of tremor and dysmetria, a sign of cerebellar ataxia. He had impaired finger chase, finger-to-nose test, fast alternating movements, and heel-to-shin test. His Scale for Assessing and Rating Ataxia (SARA) was 21.5 at baseline measurement. Genetic analyses showed a mutation in m.8344 A>G MT-TK mitochondrial gene with 85% heteroplasmy, confirming a diagnosis of myoclonic epilepsy with ragged-red fibers (MERRF). MERRF is a rare mitochondrial disease, that can present at any age, with primary symptoms involving myoclonus, seizures, cerebellar ataxia, myopathy, and ragged red fibers on muscle biopsy. Other symptoms that can occur in MERRF include dementia, optic atrophy, bilateral deafness, peripheral neuropathy, and spasticity, which fortunately our patient does not have.\nGiven that his ataxia was refractory to either pharmacology and/or high-frequency cZi DBS, and could possibly be due to his underlying condition of MERRF, prior literature suggests the benefits of low-frequency DBS in reducing ataxia-like symptoms in animals, therefore, we conducted a single day, single-blinded trial of low-frequency cZi DBS in this patient. We assessed ataxia severity with clinical ratings of SARA, used APDM mobility lab wearable sensors to detect postural sways and used an accelerometer to assess hand tremor. We assessed the speech clarity using the speech analysis software, Praat (version 6.4.12), which has been extensively validated in patients with cerebellar ataxia. Praat measures speech clarity quantitatively using Acoustic Voice Quality Index (AVQI), with a higher AVQI demonstrating worsening of speech.\nWe first obtained the baseline assessments (Table 1), and then tested four DBS settings (sham, 10 Hz, 15 Hz, and 30 Hz). These frequencies were selected based on prior literature suggesting the benefits of low-frequency DBS in reducing ataxia-like motor deficits in animal models at 13 Hz and 30 Hz. Since frequencies can be selected in increments of 5, we chose 10 Hz and 15 Hz as they are closest to 13 Hz, and additionally selected 30 Hz as a frequency of interest. We did not include any high-frequency stimulation in this trial due to these settings leading to worsening of cerebellar ataxia in prior programming sessions in the patient, before coming to our center. A nurse practitioner specializing in DBS (KM) adjusted the DBS settings, whereas a scientist specializing in wearable sensors (AK) assessed the wearable device measures. The clinical assessments of the patient were performed by a movement disorders neurologist (CA) using video-taped movement disorders examination. The patient, and the movement disorders neurologist (CA) were blinded and were not aware of the DBS settings. DBS contacts were chosen based on the modeling from the co-registration of post-operative MRI using BrainLab imaging software to precisely target the cZi (Figure 1A). The left lead consisted of 100% monopolar activation at contact L1, and the right lead consisted of 70% monopolar activation at contact L1, with 30% activation in ring mode at contact L2 (Figure 1B). In all conditions the intensity was set at 1 mA, with pulse width as 60micros to specifically test the effects of frequency on clinical symptoms. The patient's history indicates that setting of higher amplitudes above 1.5 mA was not well-tolerated, causing dizziness and lightheadedness. Therefore, to standardize programming, we opted to keep these settings consistent across all conditions. The duration of DBS ON for each stimulation frequency ranged between 13-15 minutes and all the assessments were performed during DBS ON to study the real time effects. The patient rested for 15 minutes between different DBS settings.\nWe did not observe adverse effects in any of the stimulation conditions. While sham stimulation did not demonstrate placebo responses, we found that stimulation at 10 Hz and 15 Hz did not worsen or improve gait or stance ataxia (Table 1). Consistently, we did not observe any effects of different low-frequency stimulation in postural sway measurements with eyes-open and eyes-closed while the patient stood on a firm surface (Figure 2A, B). Interestingly, we observed cZi DBS at 30 Hz provided a modest improvement in speech (SARA sub-score: baseline: 3, sham: 3, 10 Hz: 3, 15 Hz: 3 and 30 Hz: 1). The patient and his family also noticed discernable differences in his speech at 30 Hz stimulation but not sham stimulation or other frequency stimulations (Supplementary files 1-3). Consistently, his speech analysis showed an improvement of AVQI with 30 Hz stimulation when compared to other stimulation conditions (AVQI scores: baseline: 4.00, sham: 3.91, 10 Hz: 3.97, 15 Hz: 4. 33, and 30 Hz: 3.19; lower number indicating a better speech clarity) (Figure 2C-H). Further, a mild improvement in limb ataxia was seen during fast-alternating hand movements (baseline: 2, sham: 2, 10 Hz: 2, 15 Hz: 1.5, and 30 Hz: 1.5) and heel-shin slides (baseline: 2.5, sham: 2.5, 10 Hz: 2, 15 Hz: 2.5, and 30 Hz: 1.5). Interestingly, we observed a reduction in hand tremor amplitude and normalized power spectral density for the 30 Hz stimulation condition as compared to baseline, sham and other low-frequency stimulation conditions (Figure 2I, J).",
"gender": "Male"
}
] |
PMC11342832
|
[
{
"age": 33,
"case_id": "PMC11338860_01",
"case_text": "A patient was seen at a physical therapy clinic of Comunidad de Madrid. The physical therapy sessions were conducted by an experienced physical therapist with 11 years of clinical practice, starting 5 days post-injury. This case report adhered to the CARE guidelines. The patient was a 33-year-old male recreative soccer player who described the feeling of being \"stabbed\" in his thigh while performing sprint training. Earlier that day, he had a feeling of general tiredness. The injury occurred during a running training session, not while playing soccer. Due to a lack of time, the warm-up on the day of the injury consisted only of jogging for 5 min. During the second set of 30-m sprints, while attempting to run at maximum intensity, the patient felt a severe pain in the inner part of his quadriceps and had to stop immediately. The sensation of functional impotence was immediate, and he was barely able to walk. He described his pain as deep, localized, and exacerbated with walking. Using an 11-point numeric pain rating scale, with 0 as no pain and 10 as maximum tolerable pain, the pain was rated 7-8/10.\nThe patient's medical history included a previous muscle strain in the same location 3 years earlier. The injury affected his right thigh, which was also his dominant limb, which is essential for strength evaluation. He had been playing soccer recreationally for over 10 years, participating in both weekly matches and training sessions. His regular physical activity included running 10 km, swimming 1,500 m, and strength training for 2 hours each week. He described his pre-injury health status as \"very good\" and felt he was in an optimal physical condition. This detailed background provides a comprehensive understanding of his fitness level and activity patterns prior to the injury. The patient's primary goal was to return to recreational soccer.\nThe initial physical examination and the follow-up (Figure 1) was performed by an 11-year experienced physical therapist. The initial physical examination was performed 5 days post-injury to allow the acute symptoms to stabilize and to obtain a clearer assessment of the injury. Early examination might have been confounded by acute inflammation and pain, potentially leading to an inaccurate diagnosis. This was done in order to rule out other pathologies that cause anterior thigh pain, such as upper-lumbar radiculopathy, femoral neuropathy, and iliopsoas or sartorius muscle injury. The severity of the rectus femoris strain was determined to be grade 1, as confirmed by ultrasonography. This classification aligns with previous research on muscle injuries.\n Figure 2 shows the ultrasonographic image of the rectus femoris 1 week post-injury, indicating the location and extent of the strain. The injury was localized at the mid-belly of the rectus femoris muscle, with no signs of tendon involvement. A final ultrasonographic examination was not performed as the patient had clinically recovered, meeting all functional criteria for returning to play without any reported symptoms.\nDuring the physical examinations, pain intensity was consistently evaluated using the visual analog scale (VAS). In phase 1, femoral nerve tension was assessed with the femoral slump test, and active range of motion (AROM) of hip flexion with knee extension was measured through the active straight leg raise test (ASLR). Additionally, AROM of hip extension with the knee extended in supine decubitus, AROM of knee flexion in prone decubitus, and passive range of motion (PROM) of knee flexion were evaluated. Hip flexor strength at 90 degrees of hip flexion in the supine position and knee extensor strength in the seated position were measured using a digital inclinometer and a hand-held dynamometer (ActivForce 2, USA). In phase 2, rectus femoris flexibility was assessed by AROM of hip extension, AROM of knee flexion, and PROM of knee flexion, while hamstring flexibility was evaluated using the ASLR test. Hip flexor strength was measured at 90 of hip flexion and at 0 of hip flexion with the knee extended (long lever arm), and hip extensor strength was evaluated in the prone position with knee flexion. In the final phase (phase 3), the same parameters:rectus femoris flexibility, hamstring flexibility, and hip flexor and extensor strength:were reassessed to determine the patient's readiness to return to play.\nThe contralateral limb was assessed during the phases 1, 2, and 3 to compare rectus femoris flexibility, hamstring flexibility, and hip flexor and extensor strength between both limbs. The criteria to progress between the phases are described in Figure 1. The physical examination was performed every week to assess all risk factors.\nThe measurement of the VAS was carried out using a horizontal line that spans from 0 to 10 cm, representing the pain intensity. At one end of the 10-cm line, there was a label indicating the complete absence of pain (0 cm), and at the other end, a label represented the maximum presence of pain (10 cm). The patient indicated their perception or level of pain, which can be directly translated into a numerical score ranging from 0 to 10.\nThe femoral slump test was used to assess and potentially rule out neuropathy of the femoral nerve. To perform this test, the patient was seated at the edge of an examination table with their legs hanging freely. The examiner instructed the patient to flex their neck forward while keeping their knee extended and ankle dorsiflexed. The examiner then placed one hand on the patient's shoulder to prevent elevation and abduction of the scapula and the other hand under the patient's ankle, gently dorsiflexing it. When maintaining this position, the examiner slowly extended the patient's knee. If the patient experienced pain or paresthesia along the anterior thigh during this maneuver, it may indicate femoral nerve compression or neuropathy.\nThe ASLR test was performed to assess the function and strength of the lower trunk and pelvic muscles. During the test, the patient was in a supine position, and they were instructed to lift one of their legs straight while keeping the knee extended. The therapist carefully observed whether the patient could perform this movement without pain or difficulty. Attention was paid to any sensations of tightness, weakness, or pain in the lower back, pelvis, or legs during the leg lift. The ASLR is a common assessment in physical therapy and rehabilitation to evaluate the functionality of the pelvic girdle and lower extremities.\nThe assessment of hip extension and knee flexion PROM and AROM was conducted to evaluate the flexibility of the rectus femoris muscle. During the passive assessment, the patient was in a prone position. The therapist held the patient's leg by the ankle and performed hip extension while flexing the knee to evaluate the range of motion without the patient's active involvement. This provided information about the passive flexibility of the rectus femoris. For the knee flexion assessment, both active and passive evaluations were performed. In the passive assessment, the patient was in a prone position, and the therapist gently flexed the patient's knee joint by bringing the heel toward the buttocks, measuring the ROM without the patient's muscular effort.\nIn the active assessment, the patient actively flexed their own knee, trying to bring the heel toward the buttocks, and the therapist observed and measured the ROM achieved through the patient's voluntary muscle action.\nThe examination of the muscular strength of the hip flexors at 90 degrees of hip flexion, with the hip and knee in extension (using a long lever arm), and the hip extensor (with neutral hip and 90-degree knee bent) were measured.\nThe patient lied in the supine position, and the hip to be tested was flexed to 90 , while the knee was 90 flexed. The examiner applied resistance just above the knee to assess the strength of the hip flexor muscles at 90 of hip flexion. To assess the hip flexors in a long lever arm, the patient was supine with both the hip and knee fully extended. The examiner applied resistance just above the ankle while the patient attempted to lift the leg off the examination table. Finally, to assess the hip extensor muscles, the patient was in the prone position with a neutral hip position (not flexed or extended) with the knee bent to 90 . The examiner provided resistance just above the ankle, and the patient was asked to raise the thigh off the examination table against the resistance.\nAfter the initial clinical examination (5 days post-injury), the recreational soccer player began the rehabilitation program that was controlled by the same physical therapist. The rehabilitation program (Table 1) was adapted from another protocol for hamstring strain injuries, previously published by Each week, the patient performed four sessions of rehabilitation and engaged in swimming to maintain cardiorespiratory fitness, which complemented the rehabilitation program by providing low-impact aerobic conditioning. During phase 1 of the rehabilitation program, the patient performed all the exercises (Table 1) adapted according to muscle flexibility, rectus femoris strength, and gluteal strength four times a week (Figure 3). During phases 2 and 3, the rectus femoris flexibility, strength, and gluteal strength exercises were modified, improving the difficulty of the exercises by adding more resistance or with greater multi-joint involvement. The patient was instructed to perform the exercises at an intensity of 8 (very heavy) on the rate of perceived exertion (RPE) scale throughout all three phases of the rehabilitation program.\nThe patient followed a 3-day block periodization, where day 1 included running drills and lumbopelvic control, day 2 focused on flexibility and strength training, and day 3 focused on flexibility and lumbopelvic control. During phase 3, the patient performed at least two such treatment blocks per week. Only mild discomfort (VAS <= 3) was allowed when performing the exercises. Sets and repetitions of strength training were performed according to previous studies.\nOutcomes from the patient can be seen in Table 2. Final evaluations were performed by the same therapist who performed the initial evaluations and oversaw each treatment session. Following a program based on specific training of the rectus femoris, lumbopelvic stabilization, mobility exercises, and running technique exercises, the patient improved functionally and returned to play soccer 6 weeks after the injury without pain.\nThe patient reported pain when performing his daily tasks only during the first 2 weeks after the injury and was able to run at 10 km/h for 10 min 25 days after the injury. The criteria to return to run were having rectus femoris and hamstrings flexibility and a hip flexor and extensor strength deficit of <30% compared to the contralateral (Figure 1).\nImprovements were observed in the right knee flexion range of motion and the right hip flexor strength throughout the 6 weeks of treatment and then in the 12 weeks post-injury follow-up. In addition, the hip and knee extensor strength of both limbs improved throughout the 6 weeks of treatment and was maintained in the 12 weeks post-injury follow-up. Moreover, at 12 weeks post-injury, clinical deficits between limbs in hip flexion strength at 90 of hip flexion persisted. At discharge 6 weeks after the injury, the patient achieved his goal of returning to play recreational soccer. Moreover, the patient passed the criteria of each phase at week 2 for phase 1, at week 4 for phase 2, and at week 6 for phase 3 (return to sport).",
"gender": "Male"
}
] |
PMC11338860
|
[
{
"age": null,
"case_id": "PMC11077015_01",
"case_text": "A man in his twenties began to experience fever and throat discomfort 4 days prior to hospitalization. Three days before admission, he visited a local clinic and was prescribed cefpodoxime proxetil. Despite the treatment, his symptoms did not improve, and he started to feel a sensation of tightness in his throat, leading him to visit the emergency department. He did not complain of joint pain, abdominal pain, diarrhea, or skin discomfort. He had no medical history of note and had no history of sexually transmitted infections (STIs). However, he reported having sex with men and had engaged in sexual activities, including oral sex, with his male partner, with the most recent encounter being 2 weeks before the onset of his symptoms. His partner did not have any fever or symptoms. The patient had no recent travel history or history of contact with animals. His vital signs showed a body temperature of 38.7 C, respiratory rate of 18 breaths/min, oxygen saturation (SpO2) of 98%, and blood pressure of 102/64. On physical examination, he had difficulty opening his mouth more than three finger-widths. He had an enlarged right tonsil with white coating and swelling and tender right cervical lymphadenopathy. Contrast-enhanced computed tomography led to a diagnosis of a peritonsillar abscess, and treatment was initiated with intravenous ampicillin/sulbactam 3 g 6-hourly. A rapid antigen test for Group A Streptococcus was positive. The next day, gram-positive cocci were detected in the fluid aspirated from the peritonsillar abscess, and subsequent culture tests identified the presence of Group C Streptococcus. Tests for HIV antibodies, syphilis rapid plasma reagin, hepatitis B surface antigen and hepatitis C virus antibodies, and polymerase chain reaction (PCR) testing of a throat swab for Neisseria gonorrhoea and Chlamydia trachomatis were all negative. His clinical course was favorable, but on Day 5, a gram-negative spiral bacterium was detected in 2 sets of blood cultures. The patient was discharged on Day 7 and continued treatment with oral amoxicillin/clavulanic acid for a further 2 weeks. The spiral bacterium isolated from the blood culture was subsequently identified as Helicobacter cinaedi based on its bacteriological characteristics, analysis using matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS), and with 99.36% homology, as determined by 16 S ribosomal RNA (16 S rRNA) gene sequencing analysis. He reported no recurrence of symptoms at a follow-up visits 2 months after completing treatment.",
"gender": "Male"
}
] |
PMC11077015
|
[
{
"age": null,
"case_id": "PMC10758857_01",
"case_text": "A 51 year apparently well male patient was found to have elevated serum creatinine incidentally following admission due to bee sting bite. He hasn't previous comorbidities. His previous records revealed normal serum creatinine level and patient didn't have tachycardia, episodic sweating and headache. Subsequent US scan revealed an indeterminate supra renal mass. Investigations such cortisol level, plasma metanephrines, urine vanillylmandelic acid (VMA) results turned out to be normal. Contrast enhanced computerized tomography (CECT) abdomen revealed appearance is adrenal lesion with fat-containing components which is suggestive of adrenal myelolipoma (Fig. 1).",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10758857_02",
"case_text": "After identifying the mass, further discussion with patient, patient revealed a chronic right hypochondrial discomfort which was not previously evaluated. After undergoing pre-operative evaluation and optimization, he underwent right adrenalectomy and resection of the tumor by an experienced general surgeon and a genitourinary surgeon by open approach without any intra-operative complication (Fig. 2). He was discharged on post-operative day three without any immediate post-operative. Serum creatinine levels remained normal pre- and post-surgery. He got re-admitted again on post-operative day seven with purulent discharge from the incision site. He was then managed for surgical site infection which was negative for swab and pus cultures and had no intra-abdominal connection in ultrasound study. He had Clavian Dindo complication II. He was given intravenous antibiotics for a duration of five days according to the local protocol and discharged with completely healthy wound.\nThe histopathology report showed a specimen of enlarged adrenal gland weighing 280 g in the dimension of 145 x 110 x 80 mm with a tumor (11.3 x 10.0 x 9.6 cm) of yellow cut surface and fatty in consistency macroscopically. Microscopic section reveled a myelolipoma composed of mature adipocytes containing islands of haematopoietic cells (Fig. 3). The bone marrow component shows normal tri-lineage hematopoiesis. There were areas of cystic degeneration. The tumor reached the resection margins widely. Periphery of the tumor showed compressed unremarkable adrenal cortical tissue. There was no evidence of malignancy. Blood investigations were normal before and after surgery.",
"gender": "Male"
}
] |
PMC10758857
|
[
{
"age": 3,
"case_id": "PMC10601899_01",
"case_text": "A 3-year-old girl with no significant past medical history was referred to UCLA Children's Health Center for further evaluation of tea color urine for the prior 2 months. She was initially evaluated at her pediatrician office, and urinalysis revealed 3+ hematuria and proteinuria (random urine protein creatinine ratio around 0.6 mg/mg creatinine). Vital signs included normal blood pressure of 97/65 mm Hg, pulse of 110 beats/min, BMI of 14.94 kg/m2 (63rd percentile for age). A physical examination was unremarkable. Her laboratory workup demonstrated normal kidney function (estimated glomerular filtration rate 113 mL/min/1.73 m2). Urinalysis showed occult blood (3+), >210 RBCs/high-power field and a protein/creatinine ratio of 0.7 mg/mg creatinine. An extensive serological workup was unrevealing (Table 1). Due to concern for possible nutcracker syndrome, renal ultrasound with Doppler was obtained and it demonstrated no significant abnormalities. She had a febrile illness during the time of her work up with development of transient gross hematuria. No other history of fevers, cough, sore throat, rashes, urinary tract infections, flank pain, extremity, or facial swelling. The family history was significant for history of microscopic hematuria and gross hematuria in maternal grandmother and maternal great aunt but negative for end-stage kidney disease, hearing loss/deafness, autoimmune disease, or hypertension other than that in older age. Given concern for an underlying glomerular disease, a kidney biopsy was obtained.\nThe kidney biopsy (shown in Fig. 1) was composed of cortex, corticomedullary junction, and medulla and contained 87 non-sclerotic glomeruli. Focally immature-appearing glomeruli were present, and glomeruli appeared small, consistent with the patient's age. There was mild mesangial hypercellularity, and glomerular capillary loops showed slightly weak silver staining. Rare red blood cell casts were present. There was no significant interstitial fibrosis, tubular atrophy, or arterio/arteriolosclerosis. There was no significant immunofluorescence staining. Electron microscopy demonstrated diffuse glomerular basement membrane structural abnormalities including segmental subepithelial scalloping, lamina dense splitting, and basket weave type remodeling. In areas without significant remodeling, glomerular basement membranes were diffusely thin (156 nm in thickness, standard deviation 58 nm, direct measurement, and arithmetic mean). Some tubular basement membranes exhibited multi laminations. There was segmental mild podocyte foot process effacement (~20%). There was increased mesangial matrix. There were no tubuloreticular inclusions or any electron dense deposits.\nA diagnosis of atypical glomerular basement membranes suggestive of Alport syndrome was rendered. Subsequent molecular testing was pursued via 385 gene panel next-generation sequencing assay which included evaluation of collagen IV alpha chains 3, 4, and 5 genes (COL4A5, COL4A4, COL4A5). This molecular assay was positive for a heterozygous likely pathogenic variant in the COL4A5 gene (c. 485del(p.Gly1618Valfs*35) diagnostic of X-linked Alport syndrome. No mutations in other COL4A genes were identified. A repeat single-gene analysis of the COL4A5 gene was confirmatory. This sequence change creates a premature translational stop signal (p.Gly1618Valfs*35) in the COL4A5 gene that is expected to disrupt the last 68 amino acids of the COL4A5 protein. This variant is not present in the gnomAD population database and has not been reported in the literature in individual affected with COL4A5-related conditions. This variant disrupts a region of the COL4A5 protein in which other variant(s) (p.Cys1678Tyr) have been determined to be pathogenic. Thus, the variant present in this patient was likely to be disease causing.",
"gender": "Female"
}
] |
PMC10601899
|
[
{
"age": 62,
"case_id": "PMC11324202_01",
"case_text": "A 62-year-old woman with a medical history of hypertension, mitral valve prolapse, postoperative hysterectomy, and tubal ligation developed severe abdominal pain. No emesis reported. She presented to her local emergency room where her lipase levels were elevated to 2,914 units/L. The patient underwent an upper endoscopy, which yielded negative results. At that time, she noted a 10-lb unexpected weight loss in the past 2 months. She had a family history of pancreatic cancer on the paternal side and BRCA-negative breast cancer on the maternal side. She denies any history of acute pancreatitis.\nA workup was performed, and magnetic resonance cholangiopancreatography revealed dilatation of the pancreatic duct in the body and tail of the pancreas. Focal lesions were not observed. Endoscopic ultrasound revealed a pancreatic tumor, which was positive for pancreatic ductal adenocarcinoma (PDAC) (Fig. 1a).\nSubsequently, baseline imaging was performed to determine the extent of disease. Her initial computed tomography (CT) scan in July 2022 showed a lesion in the hepatic dome, measuring 1.9 cm, most likely metastatic disease (Fig. 2a). An initial PET scan performed in October 2022 demonstrated intense FDG activity in the distal body of the pancreas (Fig. 3a).\nAfter 12 treatments with FOLFIRINOX, follow-up CT and PET scans were performed. CT revealed an unchanged pancreatic lesion with stable disease. There was no evidence of any new metastatic disease in the chest, abdomen, or pelvis. In addition, the previously observed liver lesion was no longer visible on the scan.\nThe patient was then presented to a multidisciplinary tumor board for further recommendations. Due to a suspicious hepatic lesion that was initially observed and subsequently disappeared on therapy, she was deemed unresectable. The patient was recommended to continue further chemotherapy.\nShe received Gemzar and Abraxane therapy with oral chemotherapy, Mekinist 2 mg QD, and BRAFTOVI 75 mg twice daily. The addition of oral medication resulted in grade II hypertension and a macular papillary rash on her face, and grade III lethargy was observed. The oral chemotherapy regimen was modified as follows: oral chemotherapy was administered on weekdays only, with weekends off. Upon completion of 11 treatments with Gemzar and Abraxane chemotherapy, CT scan and PET were performed. CT did not show any evidence of metastatic disease in the liver (Fig. 2b). The pancreatic body lesion was largely stable. PET showed normal uptake throughout the pancreas without evidence of metastatic disease in the chest, abdomen, or pelvis (Fig. 3b). Surgery was recommended to the patient.\nThe patient underwent a distal pancreatectomy. Surgical pathology revealed a low-grade papillary mucinous neoplasm showing no residual/persistent adenocarcinoma, 1.1 cm in the greatest dimension, twenty-three lymph nodes, negative for carcinoma (0/23), and negative surgical margins. The patient was staged as T0N0 (Fig. 1b). The initial CA19-9 level was greater than 125 U/mL and was subsequently reduced to near normal levels on FOLFIRINOX after 6 months of therapy. Thereafter, on Gemzar, Abraxane, and oral chemotherapy, it was maintained at near normal levels. At the time of surgery and the subsequent 9 months, it has remained at a normal level consistent in keeping with no evidence of recurrent disease.\nGiven that the patient had multiple cycles of therapy (23 total, 12 treatments of FOLFIRINOX and 11 treatments of Gemzar and Abraxane), no adjuvant chemotherapy was recommended. The patient has subsequently been seen every 3 months with no recurrence of cancer on CT and a negative ctDNA laboratory result. The plan is to keep the patient on a surveillance protocol. At the time of submission of this manuscript, the patient is nine from the time of surgery.",
"gender": "Female"
}
] |
PMC11324202
|
[
{
"age": null,
"case_id": "PMC10552855_01",
"case_text": "A female infant with 37 weeks' gestation of a birth weight of 2.775 kg (appropriate for gestational age) was delivered by cesarean section for breech presentation and Hemolysis, Elevated Liver enzymes and Low Platelets (HELLP) syndrome. The mother was a healthy gravida two, para one with no history of consanguinity. The mother did not have a history of lupus erythematosus. The previous child was healthy and had no history of bleeding disorders at birth and there was no family history of thrombosis. Also, there were no concerns of trauma during birth for the neonate. The mother's blood group was O, Rh-negative, with a positive antibody screen after anti-D administration and there were no features of fetal anemia. Antenatal serological tests for toxoplasma, cytomegalovirus, and parvovirus were negative. In addition, there was no evidence of a COVID-19 infection in the mother during pregnancy or at the time of delivery. There was no maternal history of fever or prolonged rupture of membranes. However, at 20 weeks gestation, antenatal scans showed persistent bilateral pleural effusion in the fetus, which was larger on the left side. No other fluid collections or malformations were noted. Rapid aneuploidy analysis showed negative results for Trisomy 21 and Monosomy X. Antenatal pleural fluid aspiration showed 95% lymphocytes, suggesting chylothorax.\nAt birth, the neonate had no respiratory effort with bradycardia, which improved following mask intermittent positive pressure ventilation (IPPV). The Apgar score at 1 and 5 min were 3 and 7, respectively. Subsequently, the neonate was intubated in the delivery room due to an increase in work of breathing and decreased air entry bilaterally. Thoracocentesis with aspiration of 10 and 49 ml of serous fluid from the right and left pleural spaces, respectively, was performed upon admission to the neonatal intensive care unit (NICU) due to the neonate's severe respiratory distress, needing high-frequency oscillatory ventilator support. After birth, the fluid that was obtained by thoracocentesis was cloudy and slight yellow in color. The pleural fluid was analyzed for biochemistry and cell counts, revealing a total white blood cell count of 1,364 (comprising 93% lymphocytes and 3% macrophages), lactate dehydrogenase (LDH) level of 78, and fluid triglycerides measuring <0.10. These findings suggested the possibility of chylothorax, even in the absence of milk or formula feeding. Subsequently, cloudy fluid volumes of 96 and 15 ml were drained through the right and left chest tubes, respectively. The fluid analysis satisfied Light's criteria for exudate based on elevated LDH, and the predominance of lymphocytes confirmed the diagnosis of chylothorax. However, we did not measure coagulation factors in the pleural fluid, as this is not a routine practice in the NICU. In addition, there are no established normal values for these factors in pleural fluids. Repeat chest x-rays (CXR) after fluid drainage revealed bilateral pneumothoraces that were drained by needle thoracocentesis. Later on, the neonate developed further increased work of breathing due to tension pneumothorax leading to hemodynamic instability that required repeated bilateral needle thoracentesis, followed by bilateral chest tube insertion and fluid resuscitation. On oscillatory ventilation, the neonate developed a higher oxygen requirement with persistent anterior pneumothorax, which warranted a transition to jet ventilation and improved oxygenation and ventilation. The duration of low pH, hypoxia, and acidosis lasted for only 2-3 h.\nThe first echocardiographic assessment of the heart showed a small ventricular septal defect, patent ductus arteriosus, with evidence of pulmonary hypertension for which inhaled nitric oxide was commenced.\nAfter chest drain and aspiration of chylous fluid, at 12 h of age, the neonate acutely developed well-demarcated erythematous macules that progressed rapidly to develop irregular central areas of blue-black purpuric lesions over the face, abdomen, and arms (Figures 1, 2). The lesions did not blanch with digital pressure application, and no separate petechial lesions or any other signs of bleeding were evident. All septic markers, including cell blood counts and C-reactive protein, were within normal limits. Due to the purpuric lesions, infectious diseases, hematology, and dermatology specialties were consulted, blood cultures were repeated, and the infection screen was expanded to include chlamydia, herpes and fungal cultures, and herpes blood PCR. Antibiotics were changed from first-line ampicillin and gentamicin to vancomycin, meropenem, and clindamycin. Prothrombin time (PT), international normalized ratio (INR), and activated partial thromboplastin time (aPTT) assays, protein C, S antigen, fibrinogen, antithrombin (AT) and D-dimer levels, and protein S activity assay were performed before and after transfusion of fresh frozen plasma (FFP) (Table 1). The International Society for Thrombosis and Haemostasis (ISTH) disseminated intravascular coagulation (DIC) score was 7, which indicates that the neonate had laboratory evidence consistent with overt DIC related to purpura fulminans. Since purpura fulminans did not persist for a long time, he did not require any anticoagulant agent.\nThe complete blood counts were sent at the time of onset of the skin lesions and after disappearance of PF (Table 2). The CBC results indicated a normal count within the first 24 h of life; however, after 24 h of life, there was a drop in platelet counts (as shown in Table 2). Serum lactate levels remained normal during this period. Blood cultures; blood PCR for herpesvirus 1, 2, and varicella-zoster; surface swab PCR for herpes virus; surface swab fungal culture; and pleural fluid culture reports were negative. The coagulation profile test results have been detailed below, with timelines (Table 1).",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC10552855_02",
"case_text": "The low levels of protein C, antithrombin, and borderline protein S on day 1 of life may have been a result of the loss of these factors in the pleural fluid. There was no history of prolonged hypoxia or acidosis. These low levels resolved with FFP transfusions. FFP was administered every 12 h on day 1 of life, followed by one transfusion on day 2, discontinued on day 3 after typical coagulation results, and remained normal on day 4. Sepsis work-up results were negative, and we could not rule out any other possible cause of disseminated intravascular coagulopathy. The platelet count remained within normal limits at the onset of purpura fulminans (day 1); however, platelet levels subsequently dropped from day 2 to day 5 of life, indicating possible evidence of DIC (as shown in Table 2). The cause of DIC and low factor assay remained unknown. The elevated D-dimer assay was attributed to the predisposition to thrombophilia due to the loss of the antithrombotic factors after draining the chylothorax fluid. The purpura resolved following FFP transfusion with no further recurrence. The baby continued to have intermittent skin mottling episodes, with the appearance of cutis marmorata, which resolved spontaneously without intervention. As part of genetic work-up, RAPID exome sequencing was performed. The clinical exome report, however, did report a variant of unknown clinical significance in a gene called PAK2 without any clinical significance. This specific variant is c.1115A > T, p.Asp732Val. Furthermore, the results did not reveal any variants or mutations in the PROC, PROS, and SERPINC1 genes.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC10552855_03",
"case_text": "The child was referred to an ophthalmologist for an eye examination due to the absence of a red reflex at the time of discharge. The ophthalmologist performed a thorough assessment using dilated fundus examination and conducted intravenous fluorescein angiography along with B-scan ultrasound. The B-scan ultrasound confirmed retinal detachments in both eyes but ruled out retinoblastoma, congenital cataract, or calcifications. Fluorescein angiography revealed a funnel retinal detachment in the right eye and a knife-edge detachment in the left eye. Furthermore, retinal vessels were identified between 4 o'clock and 7 o'clock in the left eye, along with a small avascular crescent of retina at the far periphery in this clock hour. However, there was no neovascularization observed in either eye.",
"gender": "Unknown"
}
] |
PMC10552855
|
[
{
"age": 65,
"case_id": "PMC11177082_01",
"case_text": "The first case was a 65 year old woman with diabetes mellitus (DM), ischaemic heart disease (IHD), and end stage renal disease (ESRD). She underwent brachiobasilic AVF placement last year, which developed three aneurysmal segments in the basilic vein during the six months that it had been used for dialysis before superficialisation. The patient presented to the clinic complaining of a pulsatile mass in her arm one year after AVF placement. A simple aneurysmorrhaphy was performed, recalibrating the aneurysmal vein. The vein had an acceptable length, but as it had been newly reconstructed a classic transposition was not performed. A pedicled subcutaneous flap was made from the patient's subcutaneous tissue on the anteromedial arm, with the reconstructed vein placed on top of the flap, and the medial side of the flap then closed under the skin with 4-0 Polydioxanone (PDA) interrupted sutures, so the vein was superficialised for better access (Supplementary Figure S1).",
"gender": "Female"
},
{
"age": 35,
"case_id": "PMC11177082_02",
"case_text": "The second case is a 35 year old woman with DM and ESRD who underwent brachiocephalic AVF placement three years previously. Aneurysmal degeneration of the AVF began one year ago, eventually leading to thrombosis and total compromise of AVF outflow for a week, before her presentation. Thrombectomy was performed, requiring an additional incision to extend the thrombectomy proximally, plus aneurysmorrhaphy with adjustment of the venous wall (Supplement Figure S2).",
"gender": "Female"
},
{
"age": 67,
"case_id": "PMC11177082_03",
"case_text": "The third case was a 67 year old man with ESRD who underwent brachiocephalic AVF placement 10 years ago. Aneurysmal degeneration of the AVF began four years ago, leading to thrombosis and partial compromise of AVF outflow before revision. Thrombectomy with simple aneurysmorrhaphy was performed (Supplementary Figure S3).",
"gender": "Male"
},
{
"age": 45,
"case_id": "PMC11177082_04",
"case_text": "The fourth case was a 45 year old man with ESRD who was dialysed through a brachiocephalic AVF placed four years ago. The patient had undergone stenting of the cephalic vein in another centre due to stenosis, which led to severe aneurysmal degeneration of the venous portion of the AVF. He also reported two incidents of severe haemorrhage from the aneurysmal AVF, as the overlying skin had become very thin and easily ruptured. Pre-operative venography showed severe thrombosis of the aneurysmal cephalic vein which had caused total occlusion of venous blood flow.\nTwo incisions were made: first, a longitudinal incision over the course of the dilation, and second, an elliptical continuation of the first incision over the partially necrotic scabbed skin over the severely dilated segment of the vein. The scabbed part was not dissected and was left on the vein, where it was later removed together with the redundant venous wall. After removal of the thrombi and the previously placed stent entrapped in atheromatous plaques, the venous wall was recalibrated and the reconstructed vein was shortened to lie appropriately in the vessel bed (Fig. 1).",
"gender": "Male"
},
{
"age": 75,
"case_id": "PMC11177082_05",
"case_text": "The fifth case was a 75 year old man with ESRD, who underwent radiocephalic AVF placement five years ago, and presented to the clinic with a severely tortuous aneurysm of the cephalic vein, which had resulted in multiple bleedings from wounds on the stretched skin. After aneurysmorrhaphy of the cephalic vein, part of the vessel was resected and re-anastomosed to achieve a desirable venous length (Fig. 2).",
"gender": "Male"
},
{
"age": 68,
"case_id": "PMC11177082_06",
"case_text": "The last case was a 68 year old female with hypertension (HTN) and ESRD who had undergone haemodialysis three times a week for the past five years. A brachiocephalic AVF was placed three months after the beginning of her dialysis. The AVF began aneurysmal degeneration two years after its placement, with progressive reduction in the AVF flow rate, which had the patient presenting for evaluation a year afterwards. Pre-operative venography showed severe stenosis in the left cephalic arch. The stenosis encompassed the cephalic arch, extending to the left cephalic-axillary vein junction.\nAfter simple aneurysmorrhaphy of the dilated cephalic vein in the upper arm, the cephalic vein was ligated just distal to the stenotic cephalic arch; the cephalic vein was then transected distal to the stenosis and venous drainage was established by interposition of an 8 cm polytetrafluoroethylene (PTFE) jump graft in place of the cephalic arch between the distal newly cut end of the cephalic vein onto the anterolateral side of the left subclavian vein (about 3 cm medial to the cephalic axillary junction) through the clavipectoral fascia. Care was taken in the dissection around the thoraco-acromial artery and the lateral pectoral nerve. Unfortunately, no images were taken during surgery.",
"gender": "Female"
}
] |
PMC11177082
|
[
{
"age": 11,
"case_id": "PMC10653967_01",
"case_text": "An 11-year-old boy was referred to assess progression of previously diagnosed cherubism. DNA analysis revealed a heterozygous germline mutation of c.1253C>A (p.Pro418His) in exon 9 of chromosome 4p16. After diagnosis at the age of 6, active surveillance showed minimal progression of the swelling. However, since the start of the second transitional phase of his dental development, more rapid progression was observed.\nApart from cherubism, he was in good general health. At the time of presentation, clinical examination demonstrated painless, symmetrically swollen cheeks. No exophthalmos or scleral show below the iris was observed. Dental development was in the mixed dentition phase, and the palate was slightly high arched. Orthopantomography (OPT) showed characteristic features of cherubism (Figure 1), which were confirmed by computed tomography (CT) (Figure 2(a)). Based on these findings, a cherubism Motamedi-Raposo grade III Class 5 was diagnosed.\nPredominantly for psychosocial considerations, surgical correction of facial disfigurement was requested. Because of the risks of severe intraoperative hemorrhage, severe thinning of the cortex surrounding the lesions, and recurrent progression after surgical intervention, systemic therapy with subcutaneous injections of calcitonin (Calcitonine EssPharma, Essential Pharma Ltd., Birkirkara, Malta) 100 IU/day was initiated. CT scans were repeated every 6 months to evaluate the effect. The treatment was well tolerated without side effects, apart from local injection site pain and nausea in the first week of treatment.\nAfter 6 months, clinical progression of the lesions was halted. A CT scan showed decrease in the size of the lesions, mild intralesional calcifications, and repair of the cortex resembling encapsulation. After 12 months, clinical regression of the palpable lesions was noted. A CT scan demonstrated a volume decrease from 20 ml to 7 ml on the left side and from 25 ml to 20 ml on the right.\nBecause of the positive response and good tolerance of calcitonin, therapy was extended up to 35 months. Clinically, the swelling on both sides of the face continued to decrease. Control CT (Figure 2(b)) demonstrated a significant reduction in size and ossification of the lesions, resulting in less prominent facial features characteristic for cherubism while normal dental development continued. Considering the results obtained, it was agreed that contour corrections were to be postponed after completion of skeletal growth.",
"gender": "Male"
}
] |
PMC10653967
|
[
{
"age": 64,
"case_id": "PMC10803410_01",
"case_text": "A 64-year-old man was admitted to our hospital for acute osteomyelitis of the toes, presenting with left toes ulcer due to infection developed after a fall injury 3 days prior to admission. The patient had a past medical history of hypertension, chronic kidney disease (CKD), and diabetes mellitus controlled using insulin. The patient's initial vital signs were as follows: blood pressure, 189/104 mmHg; heart rate, 109 beats/min; and blood temperature, 39.8 C. Physical examination of his left great and second toes revealed ulcers with pus, swelling, and surrounding erythema. Laboratory test results revealed white blood cell count, 10,000 cells/microl (differential count, 88.9% neutrophils); elevated C-reactive protein levels, 3.09 mg/dl (normal: <0.14 mg/dl); fasting blood glucose, 316 mg/dl (normal: <110 mg/dl); and glycated hemoglobin, 12.4% (normal: <6.0%). Moderate renal dysfunction was observed. SARS-CoV-2 was undetectable using reverse-transcriptase polymerase chain reaction (RT-PCR) on a nasopharyngeal swab specimen. Magnetic resonance imaging (MRI) indicated acute osteomyelitis of the toes (Supplementary Figure S1). Subsequently, the patient underwent surgical debridement of the ulcers to enhance the healing process. Following the collection of blood and pus for cultures, the patient was intravenously administered with ampicillin-sulbactam (1.5 g every 8 h). Simultaneously, a continuous insulin infusion was initiated to strictly control hyperglycemia. On the second day after admission, nosocomial transmission of SARS-CoV-2 infection occurred. A repeated nasopharyngeal swab for RT-PCR showed negative results; however, on day 3, the patient complained of a sore throat. His vital signs were stable except for low-grade fever of 36.9 C. A follow-up RT-PCR showed positive results for SARS-CoV-2. His physical examination and chest radiograph showed unremarkable findings (Figure 1A). Serum cardiac enzyme levels were within normal ranges. ECG showed sinus rhythm and concave ST-segment elevation in precordial leads, suggestive of early repolarization (Supplementary Figure S2A). Echocardiography showed mild concentric left ventricular (LV) hypertrophy with normal contraction and enlarged left atrium suggestive of diastolic dysfunction; however, pericardial effusion was not observed (Figures 1B,C and Supplementary Videos S1, S2). After the patient was isolated, intravenous infusions of antiviral agent (remdesivir, a loading dose of 200 mg followed by 100 mg for 2 days) and SARS-CoV-2 neutralizing antibody (sotrovimab, a single dose of 500 mg) were administered for mild COVID-19 treatment. On day 7, all the cultures collected on admission yielded Staphylococcus aureus sensitive to cefazolin and de-escalation of intravenous cephazolin (2 g every 8 h) was performed for 4 weeks. The patient achieved improvement in glycemic control and was then switched to conventional regular subcutaneous insulin. His wound healing process was uneventful. On day 13, the patient experienced dyspnea. His vital signs were blood pressure, 134/77 mmHg; heart rate, 68 beats/min; body temperature, 36.7 C; respiratory rate, 18 breaths/min; and oxygen saturation, 85% on ambient air. A follow-up chest radiograph revealed cardiomegaly with left pleural effusion. The patient's body weight increased by 8 kg. Jugular vein distention and bilateral leg edema were noted; serum brain natriuretic peptide level was elevated (332 pg/ml, normal: <18 pg/ml). Therefore, a presumptive diagnosis of acute heart failure was made, and the patient was administered oxygen at 2 L/min and treated with intravenous loop diuretics (furosemide, 20 mg twice daily) to control volume overload. On day 15, a repeated RT-PCR confirmed SARS-CoV-2 negativity, ending isolation. On day 17, the patient's condition exacerbated (Figure 1D). Chest computed tomography (CT) revealed moderate pericardial and bilateral pleural effusions (Figure 2A). The follow-up ECG showed ST-segment normalization (Supplementary Figure S2B). The follow-up echocardiography revealed a moderate pericardial effusion with tamponade physiology, suggestive of PT (Figures 1E,F and Supplementary Videos S3, S4). Cardiac MRI suggested active pericarditis (Figures 2B,C). Right heart catheterization confirmed PT with equalization of diastolic pressures across all chambers and marked hemodynamic pulsus paradoxus (Supplementary Table S1). Subsequently, the patient underwent an urgent pericardiocentesis with a placement of pericardial drainage, showing 750 ml of hemorrhagic exudate fluid (Figure 3A). Pericardial fluid (PF) analysis showed hypercytokinemia consistent with an inflammatory process (Supplementary Table S2). SARS-CoV-2 in the PF was undetectable using RT-PCR. Gram and Ziehl-Neelsen staining and bacterial and fungal cultures yielded negative results. Serologic testing for autoimmune diseases and cardiotropic viruses workup indicated negative results. Notably, PF cytology suggested adenocarcinoma cells suspecting carcinomatous pericarditis (Figure 3B), for which ibuprofen (600 mg three times daily) and colchicine (0.5 mg twice daily) were initiated. On day 18, the patient underwent bilateral thoracocentesis with drainage of serous transudate pleural fluids, which also showed hypercytokinemia (Supplementary Table S3). SARS-CoV-2 in the pleural fluids was also undetectable using RT-PCR. After confirmation of no pericardial effusion recurrence, the drain was removed. Upper endoscopy and colonoscopy for cancer screening showed unremarkable findings. CT screening revealed right paraesophageal and hilar lymph nodes swelling (Figures 4A,B). On day 26, positron emission tomography (PET)/CT with the glucose analog 2-[18F]-fluoro-2-deoxy-d-glucose (FDG) disclosed the slight hypermetabolic activities in the same lesions (Figures 4C,D). Owing to the concern for malignancy, the patient underwent video-assisted thoracoscopic biopsy (VATS-biopsy) of the FDG-avid hilar lymph node, revealing multiple non-caseating granulomas suggestive of sarcoidosis (Figure 3C). However, considering normal serum angiotensin converting enzyme (ACE) levels and the absence of pulmonary, skin, and eye involvement, the patient was diagnosed with a sarcoid-like reaction. Furthermore, re-examination of the PF cytological materials using immunohistochemistry revealed that the atypical cells were reactive mesothelial cells because they were positive for D2-40, a specific cell-marker for mesothelial cell (Figure 3D), which was unlikely due to malignancy. Therefore, based on the temporal association between preceding SARS-CoV-2 infection and the development of subacute PT without other identifiable causes, a final diagnosis of COVID-19-associated acute pericarditis was made. On day 36, the patient developed leukopenia during treatment, which was suspected to be drug-induced, that resolved with colchicine discontinuation. Alternatively, oral prednisolone (20 mg/day) was added because of residual pericardial thickening with pericardial effusion on the follow-up echocardiography. Thereafter, the patient's clinical condition improved steadily, and he was discharged on day 55. A significant improvement in size of the affected lymphadenopathies was also observed on day 90 (Figures 4E,F). Furthermore, a complete resolution of pericardial structural and functional abnormalities with concurrent pleural effusions was observed at the 6-month follow-up (Figures 2D-F). Thereafter, ibuprofen and prednisolone were tapered and discontinued over 3 months. The patient remains clinically stable during the first year of follow-up. We present a summarized illustration of the case presentation in Figure 5.",
"gender": "Male"
}
] |
PMC10803410
|
[
{
"age": 52,
"case_id": "PMC11372405_01",
"case_text": "Case 1 - A 52-year-old male presented with a mass on the left eye surface that developed 1 month ago. The best corrected visual acuity in the affected eye was 1.0 (Snellen). Slit lamp examination revealed a nasally located fluffy whitish vascularized conjunctival mass on the left eye extending to the cornea (Fig. 1).",
"gender": "Male"
},
{
"age": 66,
"case_id": "PMC11372405_02",
"case_text": "Case 2 - A 66-year-old female presented to the clinic with itching and redness in the left eye. The best corrected visual acuity was 1.0 (Snellen) in the affected eye. Slit lamp examination of the left eye revealed a whitish, and vascularized conjunctival lesion extending to the cornea (Fig. 2).\nFor Case 1 and Case 2, total excision with adjunctive cryotherapy to the remaining conjunctival borders was performed. The cornea was scraped after alcohol application. The wound was primarily closed with 8/0 vicryl sutures. For both cases, histopathological examination revealed an acanthotic epidermis with enlarged atypical keratinocytes and mitotic figures that reach full-thickness atypia and SCC in situ was diagnosed (Fig. 1b). The surgical margins were clear. Follow-up visits were uneventful, and no recurrence was detected in a follow-up of 4 years (Fig. 1c) in Case 1 and for 5 years in Case 2.\nFor Case 1, the leukocyte numbers were in the normal range. However, when the blood counts of the last 3 years before the diagnosis of OSSN were examined, lymphocytosis, 30-35%, was predominantly detected for both Case 1 and Case 2. CD4 counts were not available.",
"gender": "Female"
},
{
"age": 56,
"case_id": "PMC11372405_03",
"case_text": "Case 3 - A 56-year-old male presented with redness and low vision in the left eye for 8 months. The visual acuity in the left eye was 0.2 (Snellen). On slit lamp examination a mass on the nasal perilimbal region extending through almost the whole cornea was detected (Fig. 3a). On anterior segment optic coherence tomography evaluation of the lesion epithelial thickening on both the conjunctival and corneal parts which were suggestive of OSSN was detected (Fig. 3b). Total excision of the lesion, corneal epitheliectomy with alcohol, cryotherapy to the conjunctival borders, and adjunctive ocular surface reconstruction with amniotic membrane under local anesthesia were performed (Fig. 3c). Histopathologic examination revealed maturation and misalignment of keratinocytes with moderate atypia in the squamous epithelium (Figs. 4a and b). Focal proliferative activity increase in keratinocytes (Fig. 4c, Fig. 4Ki-67) and p53 positivity (Fig. 4d). Findings were compatible with squamous intraepithelial neoplasia II-III. The visual acuity increased to 0.8 1 month after the surgery. No recurrence was detected in a follow-up of 9 months.\nAll 3 cases had a history of renal transplant and accordingly, they all underwent immunosuppressive treatment with corticosteroid 7.5 mg/day, mycophenolate mofetil 1 x 1, tacrolimus 1 x 1. None of the cases needed topical mitomycin C or 5-fluorouracil treatment in the post-operative period. Since all the surgical margins were free of tumor cells, the patients did not receive any topical treatment such as interferon. In addition, no change has been made to the systemic treatment of these patients after the diagnosis and the surgeries.",
"gender": "Male"
}
] |
PMC11372405
|
[
{
"age": 26,
"case_id": "PMC11217479_01",
"case_text": "A 26-year-old man with no personal or familial history of cancer was hospitalized after 1 week of fever and abdominal pain. The computed tomography (CT) scan showed a primary right colonic mass associated with local inflammation and free pelvic effusion, without distant metastasis. In this context, he underwent emergency surgery. Pathological specimen revealed R0 resection, a 7-cm infiltrative mucinous adenocarcinoma of the right colon, and two positive lymph nodes out of 47 (T3N1 stage IIIA). Molecular testing on the primary tumor found KRAS wild type, BRAF V600E mutation, and normal expression of MLH1-MSH2-MSH6-PMS2 as assessed by IHC. The result of the PCR analysis for MSI detection was considered uninterpretable due to insufficient tumor cells (<20%).\nPostoperative imaging was clear, as well as the tumor markers [i.e., carcinoembryonic antigen (CEA) and carbohydrate antigen 19-9 (CA19-9)]. As recommended by the guidelines, between January and July 2018, the patient received 12 cycles of adjuvant chemotherapy with an intravenous (iv) FOLFOX regimen [oxaliplatin, 85 mg/m2 iv; 5-fluoruracil (5-FU), 2,400 mg/m2 iv over 46 h; 5-FU, 400 mg/m2 bolus; leucovorin (LV), 400 mg/m2]. Genetic counseling was considered due to the patient's young age, and a standard constitutional NGS panel was performed, which included the genes MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH POLD1, and POLE, without detection of any deleterious mutations ( Table 1 ). A class 3 heterozygous VUS (variant of uncertain significance) of the MSH2 gene located in exon 13 c.2012A>C/p.Asn671Thr was found, and due to the patient's young age, the panel recommended upper and lower endoscopic surveillance as a Lynch-like case (every 2 years in France).\nIn December 2018, the patient had resectable liver relapse, and a left hepatectomy was performed. As the relapse was intrahepatic and occurred 6 months after the end of adjuvant chemotherapy, the multidisciplinary team (MDT) decided on an adjuvant systemic treatment with an iv FOLFIRI regimen (irinotecan, 180 mg/m2; 5-FU, 2,400 mg/m2 iv over 46 h; 5-FU, 400 mg/m2 bolus; LV, 400 mg/m2) plus intra-arterial hepatic oxaliplatin. The patient received 3 months of chemotherapy from February to May 2019, with good tolerance. He was disease free at the end of the treatment.\nAfter 3 months, in September 2019, a CT scan revealed progressive disease and the appearance of retroperitoneal lymph nodes. As the patient harbored BRAF V600E mutation, the MDT decided on targeted therapy with dabrafenib, trametinib, and panitumumab [at the time, we did not have the results of the BEACON trial ]. The patient had partial response and a progression-free period of 16 months (between September 2019 and February 2021), but with limited tolerance due to grade 2-3 cutaneous toxicity related to panitumumab.\nIn January 2021, the disease became progressive again at the retroperitoneal, mediastinal, and left supraclavicular lymph nodes. Despite the fact of a known BRAF V600E mutation and the proficient mismatch repair (pMMR) status, we decided to perform a new molecular NGS analysis with the FoundationOne CDx panel, which used both liquid biopsy and the archival specimen (from the hepatic surgery).\nThe results revealed, on tissue, MSI-H, tumor mutational burden (TMB) of 17.65 mutations per megabase (Muts/Mb), and a BRAF V600E mutation, while the liquid biopsy confirmed the MSI-H, TMB-H (27 Muts/Mb), and the BRAF V600E mutation, among others ( Table 1 ).\nBased on the MSI-H result, the patient was enrolled in a basket clinical trial, in which he underwent treatment for 34 months with second-line atezolizumab with partial response (-76%) and complete metabolic response with excellent treatment tolerance ( Figure 1 ). The diagnosis and the treatment process of the patient are displayed in Figure 2 .\nIn the face of these discordant results, we performed an MSI analysis using the specimen from the liver metastasis. The analysis revealed an MSI-H phenotype in NGS, but still a microsatellite stable (MSS) in IHC. A second NGS using the Idylla panel confirmed the presence of MSI-H in the liver specimen. The case was discussed with a pathologist and a biologist, and a somatic hypermethylation of MLH1 was performed, which came back negative. The patient was considered to harbor an MSI-H tumor.\nAfter the MSI-H results were confirmed, we went back on the germline analysis and decided to perform a methylation tolerance-based functional assay for the MSH2 exon 13 c.2012A>C/p.Asn671Thr. The results confirmed the pathogenicity of the variant, and the case was discussed in genetic MDT. The variant was classified as likely pathogenic (in the national FrOG database), and it was considered that the patient harbored Lynch syndrome. The evaluation performed by the end of January 2024 showed a complete metabolic response, and it was decided to stop immunotherapy. His healthy relatives had not performed any genetic testing at this stage.",
"gender": "Male"
}
] |
PMC11217479
|
[
{
"age": 11,
"case_id": "PMC10944301_01",
"case_text": "An 11-year-old boy visited the University Eye Hospital of Kabul University of Medical Science for visual blurring and headache for one year. No associated redness was observed in the eyes. According to the patient history, he is suffering from low vision, especially during lessons in class. It was the patient's first visit to an ophthalmic center with no previous ophthalmic consultations.\nThe distance visual acuity of the right eye of the patient was 20/60 without correction, but with correction of +2 sphere, cylinder of -2.5, and at an angle of 5 patient vision improved to 20/20. The left eye revealed a distance visual acuity of 20/40 without correction and BCVA of 20/20 with a glass of +2.00 (-2.00) 170 .\nSlit lamp examination revealed a good conjunctiva, transparent cornea and anterior chamber. The pupil in the right eye was pear-shaped with a notch at the inferonasal location (Figure 1). The pupil in the left eye was pear-shaped with a notch toward the left canthus (Figure 2). The photomotor reflexes were normal. The lens was normal and with no defect. Indirect ophthalmoscopy did not reveal any abnormalities in the choroid and retina. Intraocular pressure was documented at 26 mmHg in the right eye and 24 mmHg in the left eye with both Tonopen and air puff tonometer in three consecutive sessions with the patient fully relaxed. Before starting antiglaucoma drops (Timolol), pachymetry was advised in both eyes and corneal thickness was found within normal range. \nThe younger sibling of the patient was also documented with bilateral iris coloboma without concomitant chorioretinal defect and normal intraocular pressure. The importance of this case report is the unusual location of the left eye iris coloboma, which is located on the lateral-temporal side; the most common side of iris coloboma mentioned in the literature is the inferonasal side. Overall after several follow-ups, the intraocular pressure under Timolol in both eyes is below 20 mmHg and the patient is fully satisfied with medication and glasses advised.",
"gender": "Male"
}
] |
PMC10944301
|
[
{
"age": null,
"case_id": "PMC10851815_01",
"case_text": "A male patient, age 75, arrived at the prosthodontics department with chief complaints of worn-down teeth, difficulty chewing, and aesthetic concerns (Figure 1). His medical history revealed no relevant issues. The patient demonstrated cooperation and expressed a willingness to undergo treatment.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10851815_02",
"case_text": "The patient had a reduced VDO and generalized attrition affecting all of the teeth, according to a clinical examination, along with generalized cervical abrasion, which was restored by composite resin (Figure 2). The patient had missing teeth with respect to (w.r.t.) 14, 27, and a single unit metal crown w.r.t. 36 (root canal treated) with an exposed margin. A radiograph examination revealed the requirement of root canal treatment for 12, 13, 15, 22, 24, 25, 31, 32, 33, 34, 35, 41, 42, 43, and 46 (Figure 3). The patient's temporomandibular joint was evaluated and reported to be normal, with no evidence of pain or discomfort. Following clinical assessment, it was established that restoring the VDO by increasing it by 2 mm was viable. The patient was told of the diagnosis and given a thorough description of the treatment plan.\nThe treatment began after informed consent was obtained. Primary impression with irreversible hydrocolloid impression material (WaldentFlexiPrint Alginate, WaldentAlChem, New Delhi, India) were made to create diagnostic casts. The Hanau spring bow recorded the orientation jaw relation, and Dawson's technique captured the centric relation (CR) (Figure 4). These records were then transferred to a Hanau Wide Vue semi-adjustable articulator. An occlusal splint was then fabricated at an increased VDO. This splint ensured consistent tooth contact in CR and disocclusion of posterior teeth during eccentric movements.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC10851815_03",
"case_text": "The patient was directed to the endodontic department to undergo root canal therapy. The adaptation to the recently increased VDO was monitored using an occlusal splint for one month, during which there were no indications of temporomandibular joint discomfort or muscle tenderness. The diagnostic wax-up was finalized, maintaining the increased VDO on the mounted diagnostic cast. Subsequently, a putty index was made. Following the standard PFM restoration protocol, minimal occlusal reduction was done during teeth preparation. Provisional crowns were then fabricated using the putty index derived from the diagnostic wax-up. Before cementation with provisional luting cement (Temlute, Eugenol free Temporary luting cement, Prime, Maharashtra, India) the provisional fixed restorations were scrutinized for aesthetics and phonetics (Figure 5). The adaptation of these provisional restorations was assessed over four weeks. Following this period, an impression of the entire arch was obtained using elastomeric impression material (GC Flexceed; GC India, Telangana, India) (Figure 6A, 6B).\nFollowing the facebow record, the working casts were mounted onto a semi-adjustable articulator, utilizing the facebow record for precise alignment. To accurately transfer the VDO and CR, three segmental interocclusal records were obtained using bite registration material. This involved removing the provisional crown from the left segment and placing the bite registration material (JET BITE, Coltene, Maharashtra, India) in that specific area while retaining the provisional crowns in the right and anterior segments. The right and anterior segments underwent a similar process (Figures 7A-7C). Subsequent to making wax patterns, metal copings were fabricated and evaluated in the patient's mouth to ensure a proper fit, which was subsequently confirmed by the working cast (Figure 8).\nThe porcelain build-up was conducted in two stages. In the initial phase, the anterior section of the cast was removed. Adjustments were then made to the condylar and incisal guidance on the articulator to align with Hobo's condition 1, ensuring standardized effective cusp angles. The occlusal morphology of the posterior teeth was designed to establish contact between the maxillary and mandibular cusps during eccentric movements, aiming for balanced articulation with standardized cusp angles for each individual cusp. In the subsequent phase, the anterior section was again placed to the cast, and modifications were made to achieve Hobo's condition 2, with a focus on posterior disocclusion. The porcelain build-up was carried out to facilitate contact between maxillary and mandibular incisors during protrusive movements and between maxillary and mandibular canines on the working side during lateral movements. This helped establish anterior guidance and the necessary disocclusion. Finally, the PFM crowns were cemented, and subsequent occlusal adjustments were performed to ensure adequate contact and functionality (Figure 9).",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC10851815_04",
"case_text": "Periodic check-ups and instructions on maintaining good oral health were provided to assess healing and ensure the long-term success of the treatment. The patient expressed satisfaction with the outcome, noting fulfilment in both the aesthetics and function of the teeth, which, in turn, restored his confidence and dignity (Figure 10).",
"gender": "Male"
}
] |
PMC10851815
|
[
{
"age": 38,
"case_id": "PMC10870411_01",
"case_text": "A 38-year-old woman, G1P1001, had a medical history of endometriosis, fibroids, and a left ovarian cyst. She had been under the care of her benign gynecologist due to heavy menstrual bleeding and new intermenstrual bleeding. She had previously been diagnosed with endometriosis after a laparoscopy 12 years ago and was also monitored for an ovarian cyst. Preoperative assessment included a pelvic ultrasound, which revealed uterine fibroids and a 4.6cm left ovarian cyst. A pelvic MRI confirmed adenomyosis and fibroids in addition to the left ovarian cyst, which measured 4.5cm and exhibited both solid and cystic components. The CA-125 level was 43. This cyst was thought to be related to her history of endometriosis and therefore no modeling score [such as an ADNEX model ] was employed. Endometrial sampling yielded benign pathology. She expressed her desire for surgical intervention to address her abnormal uterine bleeding. Consequently, her gynecologist planned to perform a robotic-assisted laparoscopic myomectomy and ovarian cystectomy, with the possibility of hysterectomy discussed depending on the intraoperative findings.\nIn the operating room, after the induction of general anesthesia, a supraumbilical 12 mm Hasson trocar was inserted using an open technique to insufflate the abdomen. Subsequently, four 8 mm robotic trocars were placed, two on each side, and an additional robotic trocar was inserted through the 12mm trocar, servicing as the camera port. Upon laparoscopic examination, a polypoid nodular implant was identified on the posterior fundal aspect of the uterus. Pelvic washings were collected, the robot was docked, and the implant was excised and sent for frozen section analysis. The results indicated a high-grade adenocarcinoma, prompting an intraoperative consultation with the Gynecologic Oncology team.\nA comprehensive laparoscopic abdominal and pelvic examination revealed discrete pelvic nodules at the vesicouterine peritoneum, left pelvic sidewall, sigmoid colon, and descending colon, as well as two small right diaphragmatic nodules. A Fagotti score was calculated as zero, indicating good probability of complete resection. There had not been preoperative imaging of the upper abdomen and chest, and therefore a Peritoneal Cancer Index (PCI) score could not be calculated. However, all of the identified lesions appeared resectable, leading to the decision to proceed with robotic cytoreduction. The patient underwent a robotic-assisted total laparoscopic hysterectomy, bilateral salpingo-oophorectomy, pelvic and paraaortic lymph node dissection, infracolic omentectomy, and resection of nodules on the bladder serosa, pelvic peritoneum, and colon. A serosal defect on the sigmoid colon was repaired using 2-0 Quill sutures (Video 1). Subsequently, the robotic instruments were removed, the robotic platform was rotated 180 degrees, and the robotic was re-docked with the target anatomy at the diaphragm. The previously visualized diaphragmatic nodules, measuring approximately 1 cm and 5 mm, were resected, and a defect in the diaphragm was sutured using a 2-0 Quill suture in a running fashion (Video 2). Given the small size of the defect, a chest tube was not deemed necessary. Complete gross resection (R0) was successfully achieved, with an estimated blood loss of 50 cc and an operative time of 3 hours. The patient was admitted for overnight observation, experienced an uncomplicated postoperative course, and was discharged on postoperative day 1. Final pathology confirmed stage IIIC high-grade serous carcinoma of the ovary, with all excised nodules testing positive, including a 3 cm colonic lesion and the diaphragmatic nodules. The tumor cells expressed PAX-8, ER, CK7, and p16 and exhibited absent staining for p53.\nThe patient completed 6 cycles of adjuvant chemotherapy with IV carboplatin and paclitaxel. This was initiated three weeks postoperatively and therapy was completed without delays. She had undergone genetic testing and tumor molecular profiling, which was negative for a BRCA mutation but positive for homologous recombination deficiency (HRD). After completing chemotherapy, CT of the chest, abdomen, and pelvis confirmed no evidence of disease, and she was started on a PARP inhibitor for maintenance therapy. This was dose-reduced due to anemia, but she has otherwise tolerated this well.\nShe continues to follow for surveillance visits with no clinical signs or symptoms of recurrence, and her CA-125 has remained low, 12-16. At the time of publication, she remains without evidence of disease for 27 months since completing adjuvant chemotherapy ( Figure 1 ).",
"gender": "Female"
}
] |
PMC10870411
|
[
{
"age": 58,
"case_id": "PMC10777758_01",
"case_text": "A 58 years old female from Western Nepal presented during a dengue outbreak, with complaints of fever for 4 days, myalgia and arthralgia. The fever was intermittent in nature, documented maximum of 102 F, associated with chills and relieved with oral paracetamol. She had multiple episodes of nonbilious, non-projectile vomiting. She also had a history of throat discomfort but without any dysphagia. She gave history of reduced appetite, weakness, fatigue and light-headedness upon standing from a sitting position. There was no history of headache, alteration or loss of consciousness, abnormal body movements, rash, flu-like symptoms, cough, abdominal pain, chest pain, burning micturition, or abdominal distension. Bowel and bladder habits were normal. She has no known comorbidities. She is post-menopausal without a history of tobacco smoking, alcohol abuse, or any other substance use.\nOn examination, her vitals were within normal limits with blood pressure of 100/70 mmHg, pulse of 90 bpm, SpO2 of 95% in room air, respiratory rate of 19 breaths/min, and temperature of 97 F. The findings of systemic examination were within normal limits. Blood investigations revealed total counts of 10,600/mm3, with 85% neutrophils and 12% lymphocytes. Liver function tests were abnormal, with aspartate aminotransferase of 251 U/L and alanine aminotransferase of 300 U/L. Serum sodium was 127 mmol/L and C-reactive protein was positive. She was found positive for dengue NS1 antigen.\nThough there were no chest complaints, we performed a routine ECG (Figure 1) to look for any cardiac involvement. The ECG presented ST-segment elevation in leads V3, V4, V5, V6, II, aVF; T-wave inversion in leads I, aVL, V4, V5, V6; and abnormal Q waves in leads I, aVL, V1 to V6. Troponin I also came back positive. On echocardiography, left ventricular ejection fraction of 60% was noted with anterior wall hypokinesia. With these reports, the diagnosis of STEMI with dengue fever was made. Primary management with loading doses of aspirin, clopidogrel, and atorvastatin was done, and percutaneous coronary intervention (PCI) was planned. PCI was done immediately, and 80%-90% stenosis with clot was present in proximal left anterior descending artery (LAD). Stenting with drug eluding stent was done in LAD, and the patient was monitored in cardiac care unit. There were no complications post-procedure, and she was discharged after 8 days of admission on aspirin, atorvastatin, clopidogrel, metoprolol, and spironolactone. Her health was improving on subsequent follow-ups without manifestation of any complications.",
"gender": "Female"
}
] |
PMC10777758
|
[
{
"age": 32,
"case_id": "PMC11102740_01",
"case_text": "A 32-year-old Para 2, Right-handed woman presented to Tikur Anbessa Specialized Hospital on her 5th post-partum day with bilateral upper and lower extremity weakness for 5 days. She received antenatal care at a nearby hospital and was delivered vaginally at 37 weeks of gestation.\nOne day prior to delivery, she complained of severe headache, epigastric pain, and blurred vision, which worsened during the postpartum period. Following this, a diagnosis of preeclampsia with severe features was made, and she was administered magnesium sulfate. She received 24 g of magnesium sulfate for both loading and maintenance doses. In addition, she complained of generalized body swelling, which started on her face and progressively involved the whole body, decreased urine volume, and shortness of breath. Further investigation did not reveal any history of hypertension or renal disease. She also denied any similar history in the past and had no history of substance abuse.\nOn presentation, the patient's morning axillary temperature was 36.5 degree Celsius, pulse rate was 80 bpm, she has elevated blood pressure of 160/100 mmHg, and respiratory rate was 14 breaths/min. Neurological examination revealed a GCS score of 15/15 and normal cranial nerve examination. Furthermore, bilateral deep tendon reflexes (knee, ankle, biceps, and triceps) were absent, plantar reflexes were up going, and the muscle strength was 3/5 in both lower extremities and 4+/5 in both upper extremities (Figure 1). Coordination or sensory deficits were not observed. \nLaboratory investigations revealed mild hyperkalemia (K: 5.2 mg/dl) and normal serum calcium level (Total Ca: 10.2mg/dl). Renal function test results revealed a serum creatinine of 7.2 mg/dl. Further investigations using brain computed tomography (CT) and nerve conduction tests showed no abnormalities.\nShe was managed for acute kidney injury due to preeclampsia using magnesium sulfate, furosemide, and amlodipine. Despite this management, there was no improvement in the extremity weakness.\nSubsequently, the serum magnesium level was determined, and the patient was found to have severe hypermagnesemia, with a peak serum magnesium level of 6.4 mg/dl (normal laboratory level of serum magnesium: 1.7-2.2mg/dL) (Figure 2). Subsequently, Intravenous calcium gluconate was administered, and over four days, serum magnesium levels normalized, extremity weakness improved, and the patient was discharged. \nThe patient was followed up 2 weeks later and was in good condition with no extremity weakness.",
"gender": "Female"
}
] |
PMC11102740
|
[
{
"age": 34,
"case_id": "PMC11250677_01",
"case_text": "In this case report, we present an exceptionally uncommon occurrence of a benign GCT located in the lower outer quadrant of the breast that was obtained by breast ultrasonography but not by mammography. A 34-year-old married female patient with no family history of cancer and a previous diagnosis of fibroadenoma reported feeling a mass and experiencing pain in the right breast for the past month. The patient denied any history of nipple discharge or erythema and had not used estrogen- or progesterone-containing medications. On examination, a palpable mass measuring approximately 20 mm was identified in the lower outer quadrant of the right breast (at 8 o'clock). No palpable axillary lymph nodes were observed.\nMammography performed in another country (Canada) revealed a 12-mm nodular opacity at 6 o'clock with a BI-RADS 0 classification (Fig. 1). However, the lesion at 8 o'clock was not visualized. Subsequent ultrasonography of the right breast in there identified an irregular mass at 8 o'clock, measuring 10 x 12 x 10 mm, with an area of punctate calcification within the region. No axillary lymphadenopathy was noted, and the BI-RADS classification was 4B. A core needle biopsy in there confirmed the diagnosis of a GCT. Following referral to our institute in Iran, the slides were reevaluated by our center's pathologist, confirming the benign nature of the GCT. The patient was scheduled for breast-conserving surgery and sentinel lymph node dissection at our cancer research center in Iran.\nDuring the surgical procedure, frozen section analysis indicated a GCT with a diameter of 0.9 cm located in the subcutaneous area at 8 o'clock. Tumor-free margins were achieved, and no further tumor was detected.\nThe patient's postoperative recovery was uneventful, and she returned to Canada 1 week after the operation. Considering the potential for local recurrence, we advised the patient to undergo postsurgical surveillance and follow up with her physician in there for 10 years.",
"gender": "Female"
}
] |
PMC11250677
|
[
{
"age": 51,
"case_id": "PMC10473406_01",
"case_text": "A 51-year-old man with an unremarkable medical history was admitted to a local hospital on January 7, 2022, for management of sudden onset of diarrhea and bloody purulent stool. Following comprehensive history-taking, physical examination, and blood tests, he underwent colonoscopy, which revealed mucosal erythema, edema, granular changes, and multiple small mucosal ulcerations, and he was diagnosed with UC (Figures 1A-D). The patient was administered an unknown dosage of oral mesalazine and prednisolone for 3 weeks; diarrhea gradually resolved, and examination showed fewer pus cells and lesser quantity of blood in the stool. However, on January 28, diarrhea and bloody purulent stool suddenly worsened without any apparent cause. Repeat colonoscopy performed to further evaluate intestinal mucosal inflammation revealed several round, large, and oval deep ulcers throughout the colon (Figures 1E-H). The patient was transferred to our hospital the same day for further evaluation and treatment. \nHe denied a history of any other disease and drug abuse or food allergies. Physical examination showed mild tenderness in the left lower quadrant of the abdomen without any other remarkable signs. With regard to his family history, the patient's parents died of esophageal and gastric cancer. Table 1 summarizes the laboratory data obtained on the day of admission. The patient showed an elevated erythrocyte sedimentation rate (ESR, 60 mm/hour) and elevated serum C-reactive protein (139.75 mg/dL), interleukin (IL)-6 (516.8 pg/mL), and IL-17A (31.27 pg/mL) levels, with hypoalbuminemia (serum albumin [Alb] 27.8 g/L) and a low platelet count (78 x 109/L), suggestive of severe acute inflammation. The CMV-immunoglobulin (Ig) G was 178.0 U/mL, and CMV-IgM measured 26.0 U/mL, with quantification of CMV DNA in plasma at 4.46 103 copies/mL, which indicated active CMV infection in this patient with UC. We did not detect the antinuclear factor, Epstein-Barr virus, tuberculosis, C. difficile, or stool bacterial infection. Abdominal computed tomography (CT) revealed a thickened colonic wall with pericolonic exudates (Figure 2). \nBased on these findings, the patient was diagnosed with severe primary UC involving the entire colon accompanied by CMV infection and hypoproteinemia. Intravenous ganciclovir (0.5 g/day) was initiated with continued oral mesalazine (4.0 g/day) and prednisolone (50.0 mg/day) along with levofloxacin, probiotics, and other symptomatic and supportive treatment. We recommended Alb infusion therapy; however, the patient refused this treatment based on cost concerns. The patient's bloody purulent diarrhea gradually improved following the aforementioned treatment.\nOn the 6th day of admission, the patient had well-delineated, erythematous, and mildly tender plaques across the face, neck, trunk, arms, and hands, accompanied by fever (Tmax 38.5 C) (Figure 3A). We initiated oral ebastine (10.0 mg/day) with local application of mometasone furoate cream. Owing to fever, levofloxacin was switched to intravenous cefoperazone-sulbactam (3.0 g/12 hours) as intensive anti-infection therapy. However, the skin lesions extended and worsened with partial coalescence, accompanied by bullae or blister formation over the following 5 days (Figure 3B and C). Considering the clinical findings, we diagnosed these lesions as those of SS. The Following a Dermatology consultation, thalidomide (100.0 mg/day) was added to the patient's regimen on February 6 to suppress an abnormal immune response. Simultaneously, we obtained blister secretions for culture studies; however, no abnormalities were detected. The patient's fever persisted, and laboratory test results showed an elevated white blood cell count of 12.21 x 109/L, decreased platelet count of 73 x 109/L, anemia with serum hemoglobin 97.0 g/L, ESR of 82 mm/hour, and serum Alb of 29.1 g/L. Physical examination showed no oral or genital mucosal ulcer or erythema. Therefore, we consulted the Infectious Disease Department, and antibiotic therapy was switched to intravenous impenem and cilastatin sodium (0.5 g/6 hours). We performed metagenomic sequencing of genomic DNA extracted from whole blood for pathogen detection, which revealed no abnormality. \nThe patient showed defervescence on February 8, and repeat CMV DNA quantification in blood, urine, and stool showed negative results, which indicated clearance of active CMV infection. Therefore, the patient was administered intravenous infliximab (IFX, 300.0 mg), and we discontinued oral administration of mesalazine and thalidomide, as well as intravenous antibiotic therapy, and oral prednisone was tapered at 5 mg/week. The patient was discharged one week later and had no abdominal pain or bloody purulent stool, with significantly improved skin lesions (Figure 4A). \nTwo weeks later, the patient returned to our hospital for a second course of IFX. He was asymptomatic; the original skin lesions had subsided (Figure 4B), and he underwent routine blood tests (Table 1). His serum hemoglobin level was 81.0 g/L, red blood cells (RBCs) 2.45 x 109/L, with a low platelet count (98.0 x 109/L). He received the second course of IFX (300.0 mg). During follow-up, he was prescribed prednisolone 30.0 mg/day, which was gradually tapered to 7.5 mg/day.\nA month later on March 30, the patient was rehospitalized for the third course of IFX. He was asymptomatic, and residual pigmentation was observed at the site of the original skin lesions, with no new eruption (Figure 4C). Table 1 summarizes routine blood test results. Microscopic examination showed 4.0% primitive immature cells with fine chromatin and nucleoli identified in some cells and tear-like RBCs and rarely platelets, which was highly suggestive of leukemia. Therefore, the patient was immediately transferred to the hematology department for further evaluation. Bone marrow aspirate smear evaluation revealed significant active granulocytic hyperplasia with 34.0% myeloid primitive cells. Flow cytometry of the bone marrow aspirate showed 13.48% immature myeloid cells (blasts) positive for CD117, CD13, and CD38 but negative for CD34, CD14, CD15, and HLA-DR expression. Next-generation sequencing analysis of genomic DNA extracted from the bone marrow revealed mutations of the NPM1, TP53, TET2, and DNMT3A genes, which indicated poor prognosis. Based on these results, the patient was diagnosed with AML and was administered combination chemotherapy using the homoharringtonine, cytarabine, and granulocyte colony-stimulating factor regimen, and steroids were withdrawn. The patient developed severe bacterial and fungal infections during chemotherapy; however, stool test results were unremarkable, and skin lesions did not recur.\nRe-examination of the bone marrow aspirate following a chemotherapy cycle showed no remission; therefore, the chemotherapy regimen was switched to include chidamide, venetoclax, and azacitidine. On June 14 (<3 months after AML onset), the patient was rehospitalized for evaluation of high fever and died of ventricular fibrillation and cardiopulmonary arrest the following day.",
"gender": "Male"
}
] |
PMC10473406
|
[
{
"age": 75,
"case_id": "PMC10789894_01",
"case_text": "A 75-year-old woman presented to our hospital with an abnormal chest shadow, which was identified during a medical examination (Figure 1A). She had a history of dyslipidemia and nontuberculous mycobacteriosis. Chest computed tomography (CT) revealed an inflammatory nodule in the lingula and an anterior mediastinal mass with a poor contrast effect measuring 6.0 cm x 3.1 cm x 1.9 cm (Figure 1B), which grew from 2.2 to 6.0 cm over 21 months. Low and high signals were detected on T1- and T2-weighted thoracic magnetic resonance imaging, respectively (Figure 1C). Concordantly, a thymic cyst was suspected. Since the tumor doubled in size within a short period, resection was performed. At the time of surgery, the patient was 161 cm tall and weighed 51 kg. Physical examination was unremarkable and no airway abnormalities, such as hoarseness, were observed. Tracheal diameter was 13.8 mm measured by CT.\nThe patient underwent robotic-assisted thoracoscopic resection via the right lateral approach. General anesthesia was administered with the patient in the supine position. A 35-Fr left-sided DLT (Parker Double-Lumen Endo-Bronchial Tubes, Japan Medicalnext Co., Ltd., Osaka, Japan) was used for intubation and differential lung ventilation (deflated right lung). Intubation was complicated owing to the patient's narrow glottis, however, DLT barely passed through the glottis in one attempt. The surgical operating time was 1 h 28 min; the anesthesia time was 2 h 46 min. The patient was extubated in the operating room after the end of surgical procedure. No intraoperative complications were observed. Hoarseness and stridor were observed on postoperative day (POD) 1, which was initially attributed to the intubation. Patient's percutaneous oxygen saturation (SpO2) was 97% and respiratory status was stable, with a nasal cannula set at 1 L/min oxygen flow rate. Laryngoscopy showed submucosal hemorrhage around the vocal cords and mild subglottic stenosis just below the glottis; however, there was no arytenoid dislocation or findings necessitating emergency treatment (Figure 2A).\nOn POD 4, her SpO2 was 97% on room air and the hoarseness had improved. However, her stridor became more severe and laryngoscopy was re-performed and revealed subglottic stenosis progression prompting emergency tracheotomy (Figure 2B). The tracheotomy tube was used Mera Sofit D-7CFS (Senko Medical Instrument Mfg. Co., Ltd., Tokyo, Japan). Intravenous hydrocortisone sodium succinate (250 mg/day) and inhaled epinephrine (0.1 mg/day) were administered. On POD 5, subglottic stenosis progressed further (Figure 3A). By POD 7, observation of the glottis through the tracheostomy orifice revealed almost complete airway obstruction (Figure 3B). By POD 9, partially improving the subglottic stenosis (Figure 3C), thereafter the subglottic stenosis was almost completely alleviated by POD 12 (Figure 3D) (Figure S1A,S1B) and gradual improvement continued (Figure S1C). Hydrocortisone was discontinued on POD 14, and the tracheal cannula was removed on POD 22 (Figure S1D,S1E). Trachea-cutaneous fistula closure was performed on POD 35, and she was discharged on POD 42, remaining well (Figure S1F-S1H). The pathological examination of the anterior mediastinal tumor confirmed the diagnosis of thymic cyst. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.",
"gender": "Female"
}
] |
PMC10789894
|
[
{
"age": 14,
"case_id": "PMC10837815_01",
"case_text": "The subject was a right hand dominant 14-year-old female with right shoulder pain that began six months prior to her evaluation. She participated as a pitcher in softball, a thrower in track and field, a middle hitter in volleyball, and as a basketball athlete. The subject does not recall a distinct mechanism of injury but noticed her pain after pitching one day. At rest her pain is 0/10, however, she reports achiness with symptoms at 4/10 after pitching, with symptoms lasting for the rest of the day and returning to baseline in the following day. She is unable to point to a specific point of pain but feels it in her shoulder when pitching, typically when the shoulder is in the 12 o'clock position. Currently, her symptoms are alleviated with rest and exacerbated with activity, reporting \"feeling tired\" with activity. The subject had radiographs taken by her orthopedist without any significant findings. She was referred to physical therapy with a clinical diagnosis of \"scapular dyskinesis\".\nAt the initial examination no atrophy was noted and there was no tenderness to palpation in the glenohumeral or periscapular region, and no obvious scapular malpositioning was noted in a resting posture. Active range of motion was normal bilaterally with passive internal rotation being limited on the right, with a glenohumeral internal rotation deficit (GIRD) presentation. Right shoulder passive internal rotation was 45 degrees with 154 degrees of a total arc of motion, while the left shoulder passive internal rotation was 75 degrees with 185 degrees of a total arc of motion. The subject had slight hypermobility (grade four glenohumeral mobility) in the posterior and inferior directions of the right glenohumeral joint, which was assessed through a standard joint play assessment.\nManual muscle testing was performed at the initial evaluation, as well as isokinetic testing of the external rotators (ER's) and internal rotators (IR's) and the Athletic Shoulder Test (ASH) testing occurring at the next visit six days later. Table 1 presents manual muscle testing outcomes, performed in standard positioning. Table 2 presents isokinetic testing data at 90 and 270 degrees per second and shows decreases in strength of the right IR's and ER's at 270 deg/sec. ASH testing indicated equal and good strength without any significant deficits. The subject reported pain with strength testing.\nUpon visual assessment of scapulohumeral rhythm via the Scapular Dyskinesis Test, the subject demonstrated reduced upward rotation of the scapula with increased anterior tilt on the right during active flexion and abduction. Pitching was pain-free at lower intensities, with symptoms present at about 50% throwing intensity. Special testing was negative for the scapular assist test and the Biceps Load II test. The hospital-specific outcome measure used was Focus on Therapeutic Outcomes (FOTO) and the subject scored 64/100, which indicates moderate dysfunction in the subject's physical functional status. FOTO was used because it captures the breadth of health concerns associated with a subject's perception of their functional status. The report also helps determine the subject's individual preferences, needs, and values to help ensure that these values guide clinical treatment decisions.\nA throwing assessment was performed three weeks after the subject's initial evaluation. An iPhone with slow-motion camera mode was used to assess the subject's pitching mechanics. There are multiple biomechanical risk factors documented in the literature that put softball pitchers at increased risk for upper extremity injury: greater shoulder horizontal abduction at foot contact, less trunk lateral flexion towards the throwing side, increased stride length, increased trunk rotation away from the throwing side, and increased center of mass posteriorly. None of the following were demonstrated during the throwing assessment. Figures 1 and 2 show images of the subject's pitching mechanics during initial foot contact from posterior and lateral views, respectively.\nThis case is particularly unique because of the discrepancy in the literature and the novelty of upper extremity injuries in youth softball. Differential diagnoses following the initial evaluation included scapular dyskinesis, labral pathology, multidirectional instability, rotator cuff pathology, cervical pathology, and thoracic outlet syndrome. The initial working diagnosis was multidirectional instability and scapular dyskinesis based on initial findings. Since there were deficits in the subject's peak torque of the internal and external rotators along with scapular dyskinesis, the first objective was to improve the subject's impairments of the muscle groups associated with her altered scapular movements including the middle trapezius, lower trapezius, serratus anterior and address rotator cuff strength deficits.\nFollowing seven weeks of physical therapy the subject reported feeling better noting reduced pain with pitching. Her isokinetic measures were significantly improved, see Table 4 for details. The subject also tested as \"normal\" for the Scapular Dyskinesis Test. However, she was still having discomfort with pitching, therefore she had magnetic resonance arthrogram (MRA). The report from the MRA was negative for any pathologies including normal findings for the rotator cuff, labrum, and articular cartilage. Following the MRA results, the subject was nearing the end of the calendar year, in which her insurance benefits followed, and a conversation ensued with her mother regarding continuing a self-management home exercise program with a conservative progression back into pitching.\nThis case report has demonstrated the complexity of both the examination and treatment of a youth softball pitcher with a shoulder injury related to WSP. The initial impression was that the subject's scapular dyskinesis was the origin of her shoulder dysfunction. After addressing the subject's scapular deficits with approximately two months of treatment focusing on improving peak torque, total work, and neuromuscular control of the involved side, she continued to have pain and the inability to fully return to pitching without reproduction of her symptoms. Due to a lack of progress regarding pain with pitching, the plan was to focus primarily on neuromuscular control and softball pitching specific functional training to improve the subject's glenohumeral and scapular control during activity rather than focus on isolated strengthening. The subject was contacted roughly five months later for consent for publication of this case report and reported no pain with pitching following continued adherence to her home exercise program and progressive return to pitching with the return to pitching program.",
"gender": "Female"
}
] |
PMC10837815
|
[
{
"age": 70,
"case_id": "PMC10795896_01",
"case_text": "This patient was a 70-year-old male with past medical history including peripheral vascular disease, coronary artery disease, hypertension, chronic obstructive pulmonary disease, hyperlipidemia and a 60-pack-year smoking history. He presented to the emergency department because of right leg pain and was diagnosed with an acute aortoiliac occlusion with right lower extremity Rutherford IIb ischemia. Vascular surgery promptly completed a right axillary to right CFA prosthetic bypass graft and endarterectomy given his extensive medical comorbidities. Postoperatively, the patient developed a right femoral hematoma because of the need for anticoagulation for acute thrombosis, which was associated with wound breakdown and infection.\nAfter operative hematoma evacuation and debridement, microbiology culture sampling and wash out, the PRS team utilized a right pedicled RFF with STSG for coverage of the exposed graft (Fig. 2A). Unfortunately, the vascular graft ultimately had to be explanted in a third operation because of culture results indicating infection; at that time, vascular surgery completed revisional aorto-above knee popliteal artery obturator bypass with a cryo-artery, ligation of the right CFA and patch angioplasty of the distal right CFA, just proximal to the bifurcation of the PFA and SFA. There was a biphasic doppler signal in the proximal SFA and PFA despite ligation of arterial inflow because of retrograde flow via the bypass graft. The RFF was lifted proximally and reapplied but remained viable throughout.\nAfter a 6-week hospitalization including rehabilitation, the patient was discharged home and ultimately completed a 6-week course of intravenous antibiotics (Fig. 2B). Eleven weeks postoperatively and in outpatient follow up, the patient was doing well; the groin wound-RFF reconstruction was healing without compromise.",
"gender": "Male"
},
{
"age": 82,
"case_id": "PMC10795896_02",
"case_text": "This patient was an 82-year-old male with past medical history including peripheral vascular disease, hypertension, coronary artery disease, transient ischemic attack, diabetes mellitus, chronic right foot osteomyelitis and a 46-pack-year smoking history. He had an extensive vascular surgical history, including right carotid endarterectomy and left CFA endarterectomy with femoral-popliteal bypass.\nThe patient underwent an elective right CFA endarterectomy with retrograde external iliac stent placement. Postoperatively, he developed a necrotizing wound infection likely related to seeding of digital osteomyelitis, complicated by bacterial endocarditis. Vascular surgery explanted the bovine pericardial patch angioplasty and replaced it with native great saphenous vein. After multiple groin washouts and VAC applications, PRS completed an RFF reconstruction of the resultant groin defect with coverage of the femoral vessels (Fig. 3A-C).\nTwo weeks postoperatively and after discharge to a rehabilitation facility, the patient presented to the emergency department because of bleeding from the right groin (Fig. 3D). The patient was diagnosed with an enlarging right CFA pseudoaneurysm and was subsequently taken back to the operating room for balloon occlusion of the right external iliac artery and ligation of the CFA, PFA and SFA. Arteriogram was performed, demonstrating filling of the PFA via collaterals. Concurrently, PRS and vascular surgery elevated the previously transposed RFF-STSG to allow for appropriate vascular exposure and then re-inset it for groin coverage-reconstruction. The RFF remained viable despite ligation of the proximal blood supply. Ultimately, the patient passed away six weeks postoperatively because of respiratory failure.",
"gender": "Male"
}
] |
PMC10795896
|
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