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{
"age": 25,
"case_id": "PMC10854417_01",
"case_text": "In a recent evaluation of a Social Prescribing intervention in Leeds, authors focused specifically on the health and social outcomes of 16-25 years old. This evaluation investigated the role of the Link Worker and highlighting its effectiveness in reducing loneliness and social isolation, increasing behavioural activation and improving self-esteem.\nYet, the evidence regarding the role of Link Workers in the development of Social Prescribing for young people is still extremely limited. The UK government is investing in developing Social Prescribing through the role of Link Workers and there is a growing attention as a positive intervention for young people. For these reasons this paper aims to describe the role of the Link Worker working in a Social Prescribing intervention targeting young people. By describing their role the paper focuses on the empathetic relationship they built with young people, the pathways to the intervention and the connection to community support services.\nThis paper aims to describe the role played by Link Workers working a Social Prescribing intervention targeting young people.\nSocial prescribing is an important example of integrated care which involves a specific type of workforce (i.e., Link Workers) who are engaged in providing health and social support across different parts of the healthcare ecosystem from primary care to the voluntary sector. Although research on Social Prescribing for adults has developed considerably, there is only very limited knowledge of the role of Link Workers in social prescribing for children and young people. This paper adopts a single case study methodology to report Link Workers' perspectives on working with young people and on the general understanding of what Social Prescribing is by examining different pathways available to young people.\nThis research project did not include the collection, processing or analysis of personal or sensitive data of an interested party. Fare clic qui per immettere testo.The Politecnico of Milan ethical committee has not required ethical clearance for this study as no sensitive data has been collected and the research is part of the fieldwork for the doctoral thesis of the main author. Nevertheless, participants were asked to agree to participate in the interviews on a voluntary basis and written informed consent has been obtained for the publication of this case study only at an aggregated and/or anonymous level according to privacy policy issued under art. 13 of EU Regulation 2016/679 of 27 April 2016.",
"gender": "Unknown"
}
] |
PMC10854417
|
[
{
"age": 44,
"case_id": "PMC11321352_01",
"case_text": "A 44-year-old woman with a non-tender nodule in the right cheek for over ten years. The patient had a history of moderate acne vulgaris during adolescence. There were no other significant clinical findings prior to developing the lesion. Physical examination revealed a single nodular lesion on the right cheek, which protruded slightly beyond the skin surface (Figure 1). Upon palpation, a soft-textured lesion was detected, more palpable than visible, measuring approximately 1 cm in diameter. The lesion was well-defined, oval-shaped, nonpainful, mobile, and clinically compatible with an E.C. To characterise the lesion further, an ultrasound evaluation was performed, which revealed an ovoid, hypoechoic, cystic structure with regular borders measuring approximately 9.3x6.6 x 9.3 mm in the subcutaneous cellular tissue plane (Figure 2).\nGiven its location on the face and its small size, after the patient's informed consent was obtained, intralesional enzymatic therapy was started using the recombinant enzymes Slim Lipase PB500 (Pbserum , Madrid, Spain), Smooth Collagenase GH PB220 (Pbserum , Madrid, Spain), and Drain Hyaluronidase PB3000 (Pbserum , Madrid, Spain) according to the protocol described below:\nThe enzymes were present in a vial in the form of lyophilised powder.\nOne millilitre of 0.9% physiological solution was poured into a 3 mL injector in which each of the enzyme vials (Slim Lipase PB500, Smooth Collagenase GH PB220 and Drain Hyaluronidase PB3000) was to be reconstituted.\nA total of 3 mL of the enzyme solution was prepared, ie, 1 mL for each vial.\nAsepsis and antisepsis of the area were achieved.\nThe enzymatic treatment was applied with a 3 mL syringe and a 30G 1/2 needle. In this method, 1.5 mL of the mixture was applied in the centre of the cystic lesion and 1.5 mL in the perilesional region radially.\nFinally, routine postprocedural recommendations, precautions, and follow-up plans were explained to the patient.\nDay 7 after enzymatic treatment: Erythema, oedema, and inflammatory reaction were observed in the infiltrated area (Figure 3a). Ultrasound follow-up showed a hypoechoic lesion in the subcutaneous cellular tissue with slightly irregular borders measuring 6x7 x 3 mm (Figure 3b). A wait-and-watch approach was adopted, and a reapplication was performed subsequent to the control ultrasound on Day 21 after the initial application.\nDay 21 after enzymatic treatment: A new enzyme application was performed using the same dilution and volume as before (Figure 3c).\nDay 41 after enzymatic treatment: A reduction of the nodular volume was observed, leaving an erythematous macule in its place (Figure 3d). Control ultrasound revealed the absence of tumours (study without clinical alterations) (Figure 3e).\nLong-term evolution: Four years after enzymatic application, there is no evidence of C.E. recurrence (Figure 3f).\nAll procedures undergone in this patient were conducted described in this report were carried out in strict compliance with the ethical guidelines of both institutional and national research committees. In addition, our methods conform to the ethical standards set forth in the 1964 Declaration of Helsinki and its subsequent amendments, ensuring high ethical and scientific integrity. The study was also reviewed and approved by the Research Ethics Committee Of The Caribbean Foundation For Biomedical Research with approval number CEI-BIOS-001-170524-301. The patient involved in this clinical case gave written informed consent, accepting the use of his clinical information and images for research and publication purposes.",
"gender": "Female"
}
] |
PMC11321352
|
[
{
"age": 45,
"case_id": "PMC11063376_01",
"case_text": "A 45-year-old woman with intractable epilepsy underwent sEEG and MEG simultaneously at the Hiroshima Epilepsy Center. At 39 years old, she started to experience visual hallucinations that were superimposed on her real vision. Her daily seizure was focal impaired awareness seizure, consisting of deja vu, hallucinations, and brief confusion. She was medically refractory during the course of her seizures. EEG showed sharp waves in the bilateral anterior temporal regions. Bilateral mesial temporal lobes showed high intensity on fluid-attenuated inversion recovery magnetic resonance imaging (MRI). Her left and right hippocampi showed no difference in volume. MEG showed a bilateral horizontal cluster in the anterior temporal lobes. Her neuropsychological test results were within normal limits. Bilateral mesial temporal lobes showed hypometabolism on positron emission tomography with fluorine-18 fluorodeoxyglucose and hypoperfusion on iodine-123 iomazenil single-photon emission computed tomography. Repeated scalp video-EEG captured seizures but failed to determine the seizure onset. Temporal lobe epilepsy was suspected, and she underwent sEEG to determine the laterality of the focal onset.\nWe performed sEEG using 11 depth electrodes (6 left-sided, 5 right-sided) comprising 96 channels under the support of a Rosa One Brain stereotactic robotic system (Zimmer Biomet). Left-sided electrodes were placed in the anterior insula, posterior insula, mesial orbitofrontal cortex, amygdala, and hippocampal head and body. Right-sided electrodes were placed in the insula, mesial orbitofrontal cortex, amygdala, and hippocampal head and body (Fig. 1). The insular electrodes were inserted vertically from the frontal region. She was admitted to our monitoring unit for a week after computed tomography (CT) to verify electrode placement. She maintained her daily medication of clonazepam and lacosamide during the study because epileptic discharges did not disappear. Seven electroclinical seizures, habitual for the patient, were captured, and all the ictal discharge originated from the right hippocampal head. On the last day, she underwent simultaneous sEEG and MEG. We excluded channels not related to the epileptic activity of the left anterior insula, posterior insula, and mesial orbitofrontal cortex, resulting in 64 sEEG channels. She underwent CT before electrode removal to check that the electrodes remained in the same position. She underwent CT again after electrode removal to check for bleeding. We discussed the comprehensive evaluation and concluded by consensus that right temporal lobectomy should be considered. She underwent a right anterior temporal lobectomy and currently has remained seizure free for 8 months.\nWe used a whole-head 306-channel MEG system, Triux Neo (Megin). The patient was instructed to rest on a bed with her eyes closed during measurement. Simultaneous MEG, sEEG, and electrocardiography were digitized at 1,000 Hz. The MEG system can record up to 64 sEEG channels simultaneously. We set a channel in the left frontal white matter as a reference channel. We obtained 3 sessions of 10 min recordings. To avoid motion noise derived from metallic connectors and sEEG electrodes, we fixed the connectors to the lateral edge of the sensor array. After MEG recordings, noise cancellation was performed with temporal signal-space separation on Maxfilter software (Megin). Recordings from magnetometer coils were not used for later analysis to avoid electrode-derived noise.\nRecordings from planar gradiometers and sEEG electrodes were bandpass filtered at 0.5-50 Hz for visual inspection and single current dipole (ECD) estimation. The same digital filter was used to preserve and compare waveforms from sEEG and MEG. The brain was extracted from the head MRI and defined as a space where electric currents can exist to generate the magnetic field captured by the sensors. The positions of the electrodes were verified from the CT images and fusion with MRI. We used a MEG2623 sensor as the waveform control, just above the center of the right middle temporal gyrus (Fig. 1(b)). Then, we compared the control with the waveform of the right hippocampal head as a focus of epileptic activity, lateral temporal cortex just below the MEG2623, and anterior insular cortex (Fig. 1(c)-(e)). Synchrony and similarity of the waves were evaluated subjectively by visual inspection and objectively by wavelet coherence, a measure of the correlation between the two signals. Magnitude-squared coherence was depicted as color maps, and the values > 0.8 were shown in yellow. We also calculated the mean and standard deviation of the magnitude-squared coherence of signals from 1.5 to 50 Hz. We estimated single current dipoles at the spike peak, which had a high signal-to-noise ratio, using all 204 planar gradiometers with MATLAB R2022b for signal and image processing and located the source using only the MEG data, adopting a single sphere model.",
"gender": "Female"
}
] |
PMC11063376
|
[
{
"age": 33,
"case_id": "PMC11175655_01",
"case_text": "A 33-year-old male of West-African descent with end-stage kidney disease due to hypertensive nephropathy received a kidney transplant from a deceased donor 6 years after initiating hemodialysis treatment. His past medical history was remarkable for hypertensive cardiopathy, chronic hepatitis B, and latent tuberculosis, for which treatment had been completed 2 years before transplantation.\nTransplant allocation parameters included a kidney donor profile index of 4%, 0/8 HLA matches, and intermediate CMV and EBV-risk-constellations (donor+/recipient+). Transplant surgery was performed (left donor kidney into right iliac fossa) with a cold ischemia time of 11 h and a warm ischemia time of 27 min. The immunosuppressive regimen included basiliximab as induction therapy as well as cyclosporin A, mycophenolate mofetil (MMF) and prednisolone as maintenance therapy. According to local practice, a preemptive approach was followed using regular monitoring of CMV viremia without prophylactic antiviral therapy.\nThe immediate postoperative course was complicated by delayed graft function requiring continued hemodialysis treatment. On postoperative day 2, magnetic resonance imaging (MRI) of the kidney graft showed subtotal stenosis of the transplant artery at the outflow of the right common iliac artery due to dissection of the right common iliac artery and kidney graft infarcts. Therefore, explantation, thromboendarterectomy of the right common iliac artery, ventral reconstruction of the common iliac artery using a pericard patch and re-implantation of the allograft was performed on the same day. Postoperative duplex ultrasound showed restored graft perfusion. Subsequently, graft function slowly recovered allowing discontinuation of hemodialysis therapy on postoperative day 13 and stabilization of graft function at a serum creatinine level of 270 micromol/l corresponding to an estimated glomerular filtration rate (eGFR) of 26 mL/min/1.73 m2 according to chronic kidney disease epidemiology (CKD-EPI) formula (Figure 1).\nTwo months post-transplant during a regular visit to the transplant outpatient clinic, increasing CMV viremia of 1940 copies/ml was detected after low grade viremia at <500 copies/ml had been weekly monitored since a month post-transplant. At this time, valganciclovir at therapeutic dosage was started. Only 6 days later, a rise in serum creatinine to 341 mumoL/L was noted as well as new-onset microhematuria that had been retrospectively present since the preceding week. Duplex ultrasound of the kidney graft newly revealed hydronephrosis grade III. Consequently, urgent percutaneous nephrostomy was placed leading to a prompt fall in serum creatinine. Three weeks after treatment start, CMV viremia was undetectable and valganciclovir was stopped. Due to this satisfying response to valganciclovir, MMF was maintained at the same dose of 2 g per day (Figure 1). BK viremia was undetectable throughout follow-up.\nThree months after nephrostomy placement, further urologic work-up by antegrade pyelography was performed revealing a stenotic ureteral lesion in proximity to the bladder. However, an attempt to insert a ureteral stent during the same session was unsuccessful. Therefore, definitive surgical treatment was undertaken consisting of secondary uretero-ureterostomy with the ipsilateral native ureter. Subsequently, the nephrostomy could be removed, and the serum creatinine remained stable at 193 mumoL/L (Figure 2).\nThe histological examination of the resected transplant ureter showed presence of a PAX8-positive cell proliferation with surrounding fibrosis (Figure 3) consistent with nephrogenic adenoma. There were no signs of malignancy. Surprisingly, several cells showed cytopathic changes characteristic for CMV (Figure 4) and immunohistochemistry was positive for cytomegalovirus (CH2- and DDG-antibodies, Dako, dilution 1:400, pre-treatment H2 30 95; Figure 5). In the simultaneously taken kidney graft sample, signs of acute tubular injury without further anomalies were seen; however, tissue sampling was limited. CMV immunohistochemistry and SV40 staining, as BK-virus marker, were negative.\nIn the presence of CMV-positive nephrogenic adenoma, another course of valganciclovir at therapeutic dosage was introduced for 6 weeks. Immunosuppressive therapy was maintained unchanged (Figure 1). The following clinical course was unremarkable with a serum creatinine value measured at 136 micromol/l at last follow-up and disappearance of hematuria after the last urologic intervention.",
"gender": "Male"
}
] |
PMC11175655
|
[
{
"age": null,
"case_id": "PMC10775748_01",
"case_text": "A man of approximately 40 years of age underwent abdominal surgery (distal pancreatectomy, splenectomy, partial hepatectomy, and right hemicolectomy) in April 2017 for the treatment of a pancreatic neoplasm with multiple liver metastases. During the surgery, a mass measuring 5.1 cm x 4.6 cm was found in the tail of his pancreas. Pathologic examination revealed a grade 2 (G2) neuroendocrine tumor with a Ki-67 index of 3%. Following the surgery, the patient underwent anti-tumor therapy for several years, but throughout this period, he experienced repeated episodes of hypokalemia and hyperglycemia.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10775748_02",
"case_text": "In March 2019, the patient presented at our clinic for further treatment owing to tumor progression. We promptly initiated a treatment regimen comprising a combination of octreotide (sandostatin LAR) and CAPTEM (capecitabine and temozolomide). However, during the course of this treatment, he developed psychiatric symptoms, including auditory hallucination, manic episodes, and delusional episodes. Laboratory testing revealed a low blood potassium concentration of 2.4 mmol/L (normal range 3.5 to 5.5 mmol/L), high plasma ACTH concentrations of 51.6 pmol/L at 08:00 and 50.2 pmol/L at 00:00 (normal range 1.59 to 13.96 pmol/L), a high serum cortisol concentration of 1,750 nmol/L at 08:00 (normal range 118 to 868 nmol/L), and an absence of normal diurnal variation. His 24-hour urinary free cortisol production was also significantly higher than normal (Table 1). Abdominal enhanced computed tomography (CT) examination revealed hepatic tumors with irregular enhancement and bilateral hyperplasia of the adrenal glands. Magnetic resonance imaging (MRI) of his pituitary showed no abnormalities (Figure 2a, 2d, 2g).",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10775748_03",
"case_text": "On the basis of the patient's medical history, symptoms, laboratory data, and imaging findings, an initial diagnosis of EAS caused by advanced p-NET was made. We subsequently proposed bilateral inferior petrosal sinus sampling to confirm the diagnosis; however, the patient declined this procedure. After a single cycle of anti-tumor treatment, the hepatic tumors exhibited significant shrinkage, and the patient's serum ACTH and cortisol concentrations returned to normal without the necessity for any treatment for Cushing's syndrome. The features of EAS also improved. As the tumors continued to decrease in size, the patient's hormone concentrations and the clinical manifestations of the disease improved, providing support for the diagnosis.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC10775748_04",
"case_text": "Subsequently, we continued the anti-tumor therapy, which alleviated his EAS symptoms. However, his tumor started to progress again in December 2021, resulting in increases in his circulating ACTH and cortisol concentrations and a worsening of his symptoms. Therefore, we introduced a new treatment regimen for the tumor, and to manage the hypercortisolemia, we introduced mitotane at a dose of 1,000 mg three times daily. After approximately 7 days of treatment, the patient's serum cortisol concentration had returned to normal (Figure 1), and he had not experienced any significant adverse effects. During the follow-up period, the patient's hypercortisolemia remained under control using a maintenance dose of mitotane (serum cortisol concentration at 08:00 between 275 and 668 nmol/L), despite tumor progression. Unfortunately, the patient eventually died owing to complications of the malignancy, after surviving 66 months.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10775748_05",
"case_text": "A man of approximately 60 years of age was admitted to his local hospital in September 2021 with fatigue and facial and limb edema. Subsequent investigations revealed the presence of a grade 2 (G2) pancreatic neuroendocrine tumor (p-NET) with multiple metastases, including in the liver, retroperitoneal lymph nodes, and bones. Following three cycles of CAPTEM chemotherapy that were not curative, the patient sought further treatment at our clinic in December 2021. During his hospitalization, he exhibited symptoms of hyperactivity, substantial appetite, and impaired sleep.\nPhysical examination revealed hypertension (170/80 mmHg), facial plethora, and edema of the face and limbs. However, moon face, buffalo hump, central obesity, and purple striae were absent. Laboratory testing revealed a serum potassium concentration of 3.0 mmol/L, a fasting blood glucose concentration of 23.3 mmol/L, and high plasma ACTH and serum cortisol concentrations (Table 1). Subsequently, a series of imaging examinations were performed. An abdominal enhanced CT examination revealed hepatomegaly, adrenal hyperplasia, diffuse tumors with annular enhancement in the liver, and a well-defined mass measuring 6.3 cm x 5.7 cm with regular enhancement in the tail of the pancreas, which invaded the patient's left kidney and spleen. However, pituitary enhanced MRI did not reveal any abnormalities (Figure 2b, 2e, 2h). On the basis of these findings, we suspected that the neuroendocrine tumor might be an ectopic ACTH-secreting neoplasm.\nTreatment of the tumor was initiated immediately after assessing the patient's condition using octreotide and surufatinib. In addition, mitotane administration was commenced to manage his hypercortisolemia, initially at a dose of 1,000 mg three times daily, and the patient's serum cortisol concentration returned to normal after 6 days of this medication. Furthermore, his clinical symptoms improved. To prevent adrenal insufficiency, the patient's circulating hormone concentrations were monitored over an extended period. Ultimately, his serum cortisol concentration remained within the normal range while administering the minimum dose of mitotane (1,000 mg/day), with occasional adjustments of the dose owing to fluctuations in hormone concentrations.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10775748_06",
"case_text": "Owing to the patient's substantial tumor burden and the high activity of the neoplasms, his plasma ACTH concentration increased to 225 pmol/L in March 2022. However, mitotane treatment was associated with stability of his serum cortisol concentration (at 08:00, ranging from 122 to 716 nmol/L) and the clinical manifestations of the disease. In addition, he experienced no significant adverse effects, with only slight loss of appetite and dizziness. Unfortunately, the patient ultimately died owing to the effects of the tumor, resulting in a duration of survival of 11.5 months.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10775748_07",
"case_text": "A woman of approximately 60 years of age underwent surgical resection of a pancreatic neck tumor in September 2019. The tumor measured approximately 2.4 x 1.3 cm, and microscopic and immunohistochemical analysis showed that it was a grade 2 (G2) p-NET with a Ki-67 index of 5%. No adjuvant therapy was administered following the surgery, and 2 years later, an abdominal MRI examination revealed the presence of multiple liver masses, with the largest measuring 2.1 cm, and multiple retroperitoneal lymph node masses. Subsequently, the patient underwent CAPTEM chemotherapy at our clinic. After completing three cycles of treatment in January 2022, she returned to the hospital for an evaluation of the treatment's effectiveness. During the assessment, she complained of weakness in her lower limbs, which significantly affected her ability to walk steadily.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC10775748_08",
"case_text": "During the physical examination, the patient's lower limb muscle strength was found to be poor, and she had hypertension (200/104 mmHg). Laboratory testing revealed severe hypokalemia (2.1 mmol/L), hyperglycemia (fasting blood glucose concentration of 7.31 mmol/L), high circulating ACTH and cortisol concentrations, with a lack of diurnal variation, and 24-hour urine cortisol production of >60 mug/day. However, she showed no classic signs of Cushing's syndrome. Therefore, the patient underwent additional imaging examinations and liver biopsy. Abdominal enhanced MRI revealed the progression of the metastases in the liver and retroperitoneal lymph nodes, with the largest tumor measuring approximately 2.6 x 2.1 cm. Bilateral adrenal hyperplasia was also observed. Pituitary enhanced MRI did not indicate any abnormalities (Figure 2c, 2f, 2i). Examination of the liver biopsy revealed a grade 3 (G3) neuroendocrine tumor with a Ki-67 index of 22% and positive immunostaining for ACTH (Figure 3), implying the presence of EAS.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC10775748_09",
"case_text": "In addition to symptomatic and anti-tumor therapy, mitotane (1,000 mg three times daily) was administered to manage the patient's hypercortisolemia. After 14 days of treatment, her cortisol concentration had returned to normal (Figure 1); and her serum potassium, blood pressure, and blood sugar were under control; without any adverse events being recorded. Subsequently, the minimum necessary dose of mitotane for maintenance was determined through regular monitoring of the patient's circulating cortisol concentration. Until the patient died on May 14, 2023, her hypercortisolemia remained under control through the use of mitotane (serum cortisol concentrations at 08:00 between 390 and 530 nmol/L). The patient survived for 44.6 months.",
"gender": "Female"
}
] |
PMC10775748
|
[
{
"age": 30,
"case_id": "PMC10823832_01",
"case_text": "In this this case study, a 30-year-old gentleman had an injury to both ankles as a result of a fall from a 5 five-storey height while engaged in his occupational duties as a painter. The individual fell on the floor with both feet in a dorsiflexed position :- the potential mechanism of injury resulting from dorsiflexion, and and supination. . Upon On admission, the patient remained awake and had stable hemodynamics, four 4 hours after the occurrence of the traumatic event, the Glasgow cComa sScale scoring was 15. The patient had pronounced bilateral ankle edema, without any blisters. The extremities were warm, and there was no indication of any neurovascular impairment. Ankle Rradiographs revealed a closed talar neck fracture of the left ankle consistent with Hawkin type I classification. On the right side, there is a closed talus talus fracture of the Hawkin type II, accompanied by a fracture of the medial malleolus (Fig. 1).\nThe patient received pre-operative management consisting of strict limb elevation using a below-knee splint, application of cold fomentation, and initiation of trypsin therapy from admission until the presence of skin wrinkling. . The patient had trauma to the operation operation timing of of eight8 days. For the right side, he underwent a surgical procedure including open reduction and internal fixation, using a cannulated cancellous (CC) screw for the talus and tension band wire (TBW) for the medial. Percutaneous CC screw was used after closed reduction on the left side. The surgical procedure was conducted with combined spinal-epidural anesthesia while employing a tourniquet tourniquet coverage. The surgical procedure included performing bilateral fixation in a single setting, with an operating duration of 150 minutes.\nIn the case of a right talus fracture, a combined medial and anterolateral approach was employed. A 7--8 cm incision was made over the medial malleolus to access the fracture site. Following the reduction of the fracture, a 40 mm xx 4 mm CC screw was inserted using a guide wire. In Aadditionally, an incision was made on the anterolateral aspect of the ankle joint, through which another guide wire was inserted and a 40 mm xx 4 mm CC screw was inserted. During the surgery, a bone defect was identified and subsequently corrected using allograft material. The medial malleolus was successfully reduced under direct visualization, followed by the insertion of a Kirschner wire (K-wire) and tension band wiring (TBW) to complete the procedure.\nOn the other side, percutaneous CC screw fixation followed closed reduction. A stab incision was made at the posterolateral aspect of the ankle and two guide wires were inserted diagonally in an anteromedial direction to intersect the fracture site, with the use of fluoroscopy guidance. Two screws measuring 45 mm xx 4 mm were utilized for fixation. The confirmation of reduction reduction was done done by the use of fluoroscopy. Associated metatarsal fractures were managed conservatively. The estimated blood loss during the procedure was 200 mL. Wound closure was achieved with Albert Lembert sutures.\nAntibiotics were continued up to a 48-hour post-operative period. Fig. 2 shows the immediate post-operative radiographs of both sides showing adequate fracture reduction with satisfactory position of implants. The patient was discharged after the check dress of the wound was done on the third 3rd post-operative day with below knee slab for one 1 week. He was started with standard ankle rehabilitation protocol, with a range of motion exercises. The patient was fully non-weight bearing for three 3 months, and protected weight bearing was started from three 3 m onths onwards with the help of a walker and toe touch. Postoperatively, the patient started full weight bearing without support from the 5th month. The patient was followed up regularly with no complications of the wound (wound dehiscence, infection, etc.). A three3- year post-operative X-ray showed union at both talus and medial malleolus with very minimal avascular necrosis changes and no subtalar or tibiotalar joint arthritis (Fig. 3). Three-year follow-up showed both ankle range of motion with 30 deg plantar flexion, and 15 degrees dorsiflexion with mild intermittent pain and stiffness (Fig. 4). The patient`'s quality of life was good with no significant disability with foot and ankle disability index(FADI) Aactivities Sscore: 99 / 104 (95%).",
"gender": "Male"
}
] |
PMC10823832
|
[
{
"age": 87,
"case_id": "PMC11152548_01",
"case_text": "An 87-year-old female patient with no history of diabetes or other conditions causing blood glucose abnormalities was brought to our emergency department due to an acutely altered mental state after a few-week course of headaches and decreased left vision. Notably, 2 months before admission, she was incidentally found to have a sellar mass [Figure 1a]. Initial workup revealed severe hypoglycemia (17 mg/dL), and the administration of glucose restored consciousness. Given the mild hyponatremia (131 mEq/L), relatively low levels of serum cortisol (13.3 mug/dL) and adrenocorticotropic hormone (39.7 pg/mL) despite the acute sick condition, as well as a known history of sellar mass, central adrenal insufficiency was suspected, and the patient was initiated on hydrocortisone. Further, the endocrinological evaluation revealed hypothyroidism (thyroid-stimulating hormone level, 0.36 muIU/mL; free T4 level, 0.58 ng/dL; and free T3 level, 1.5 pg/mL). Her visual field was significantly narrowed, with mildly decreased visual acuity (20/200) on the left side, although these deteriorations were deemed to be attributable to glaucoma rather than the mass, considering the mild compression of the optic apparatus as well as the atypical pattern of visual field disturbance. Given her senility, she and her family initially refused surgical intervention and imaging surveillance with cortisol replacement was initiated. Two months later, however, she complained of rapid deterioration of her left eye vision and loss of light perception. Repeat magnetic resonance imaging (MRI) revealed rapid mass growth [Figures 1b and c]. Imaging studies demonstrated a T1-isointense, T2-hyperintense, heterogeneously enhanced, and irregularly shaped mass with restricted diffusion in the sellar and suprasellar regions [Figures 1c-f]. Marked bony erosion of the posterior clinoid process and dorsum sellae was noted [Figure 1g]. On 18fluorodeoxyglucose positron-emission tomography, the mass exhibited a maximum standardized uptake value of 6.2 [Figure 1h]. After a thorough discussion with the patient and her family, we decided to proceed with the surgery.\nDuring surgery, a transnasal corridor was created using endoscopic visualization. The mass had destroyed the sellar floor. After opening the dura in a U-shaped fashion, the mass was piecemeal removed. It was soft, grayish, and gelatinous, compressing the normal pituitary gland to the left [Figure 2a] and invading the right cavernous sinus [Figure 2b]. Notably, the bony dorsum sellae was absent, and the sellar side of the dural membrane was almost completely torn by the mass [Figure 2c]. A bony prominence was observed on the left side of the sellar floor [Figure 2c], which also lost its covering dura. The bony prominence was removed using a high-speed drill to access the tumor behind it. Finally, the suprasellar mass was removed while preserving the surrounding dural membrane and diaphragm. Although intraoperative cerebrospinal fluid leakage was not apparent, we decided to reinforce the diaphragm in a multilayered fashion since the diaphragm was already thin, and we were considering postoperative radiotherapy for this patient. The sellar defects were reconstructed using in- and on-lay fascial grafts with abdominal fat pieces. The dura covering the dorsum sellae was sutured with a 4-0 STRATAFIX Spiral (Ethicon, Johnson and Johnson, NJ, US) in a non-watertight fashion and was covered with pedicled sphenoid mucosa.\nPostoperative imaging revealed no residual masses [Figures 3a and b]. Her visual acuity improved significantly (20/40). Histological examination revealed the presence of physaliphorous cells with a background of myxoid stroma [Figure 3c] and positive immunostaining for brachyury [Figure 3d], leading to a diagnosis of conventional chordoma. Although the Ki-67 index was not extremely high (3%), the patient was treated with upfront adjuvant stereotactic radiosurgery (20 Gy in a single fraction), given the previous rapid progression and possible minor tumor remnants around the right carotid artery. She has been free from tumor progression for 12 months.",
"gender": "Female"
}
] |
PMC11152548
|
[
{
"age": 28,
"case_id": "PMC10518174_01",
"case_text": "Our patient was a 28-year-old woman who complained of objective skin symptoms including erythema, papules, edema, abrasions, exudates, dryness, scales, and lichenification at the initial consultation. The patient also experienced subjective symptoms of NRS 8 pruritus, which occurred mainly under the joints of both limbs since 2018. During the systemic interview, the patient reported frequent discomfort due to constipation, bloating, chest tightness, and dyspepsia. Past medical history included appendectomy approximately 13 years ago. The patient's family history was nonspecific. The patient had been treated and managed with topical steroid therapy (Lidomex ointment, Sama Pharmaceutical, Wonju, Korea) and BepanthenTM ointment (Bayer Korea, Seoul, Korea) based on a diagnosis of AD with symptoms of eczema at the local dermatology clinic. Despite treatment, the symptoms worsened (about a year ago) and systemic steroid therapy (Solondo Tablet, Yuhan Corporation, Seoul, Korea) was administered for 2 weeks a month ago. Even with systemic steroid therapy, aggravated skin symptoms persisted. Therefore, the patient voluntarily discontinued all prescribed treatments.\nErythema, papules, edema, exudation, dryness, scale, and lichenification were observed in the distal area below both limb joints (Objective SCORAD 49.9; Figures 3 and 4). The patient's symptoms were severe in the distal joints of the fingers, accompanied by scratches and bleeding around the affected areas due to itching and scratching (Subjective SCORAD 13; Figures 3 and 4). The patient was diagnosed with chronic AD based on the criteria described by Hanifin and Rajka. The patient complained of suffering in daily life due to symptom aggravation when she was stressed or in the evening, and especially when she washed her hands with soap. The affected areas were sore and painful (DLQI 19; Figure 4). DSHT was prescribed as a treatment intervention considering the total SCORAD, DLQI, and ASS. \nAccording to the Lab test results, the white blood cell (WBC) count was 5.70 x103/muL and within the normal range, the eosinophil count showed a mild increase at 17.2% (980/muL), and the total IgE showed a severe increase at 13,419 IU/mL. Moreover, AST and ALT were 37 U/L and 40 U/L, respectively, which were higher than the normal values (Table 3). MAST results showed strong allergic reactions to horses, pork, dogs, guinea pigs, rabbits, hamsters, house dust, cats, and Alternaria alternata (Table 4). The patient was living with a dog as a companion animal at the time. The patient was recommended to live apart from the dog as avoidance therapy. However, the patient declined due to affection for the companion animal. \nOverall skin symptoms improved from 49.9 to 23.8 on the objective SCORAD index, except for light scratches and pigmentation (Figures 3 and 4). The subjective SCORAD index improved from 13 to 5, which was less than half of the first diagnosis, and the patient's quality of life improved significantly from a DLQI score of 19 to 7 (Figure 4). Eosinophils improved to the normal range of 5.4% (310/muL) and AST and ALT also returned to normal at 27 U/L and 31 U/L, respectively (Table 3). The patient's ASS also improved from an NRS score of 25 to 8, compared to the first visit (Figure 5). \nThe patient visited the hospital after six months for a follow-up. The total SCORAD index score improved to 23.5, and the DLQI score also improved to 5 (Figure 4). Additional Lab test results showed that AST, ALT, and eosinophil levels were all maintained within the normal ranges. Moreover, the total IgE level was slightly improved (Table 3).",
"gender": "Female"
}
] |
PMC10518174
|
[
{
"age": 19,
"case_id": "PMC11080686_01",
"case_text": "The patient was a 19-year-old Iranian female who presented with abdominal colicky pain for 2 weeks, with intermittent vomiting, anorexia, and loose stool. On physical examination, she had a 100/min pulse rate, blood pressure was 130/80 mmHg, and O2sat was 99% with a respiratory rate of 12 breaths/min at room air. Moreover, abdominal examination indicated a soft abdomen with generalized tenderness, especially in the suprapubic and periumbilical region with rebound tenderness in the periumbilical area. The rectal was bulging in Rt. Sided of the pelvis and bowel sounds were hyperactive. \nLaboratory tests were normal except for liver function tests, which were slightly increased (AST=48, ALT=77 IU/Lit). \nRegarding imaging findings, abdominal sonography showed ileoileal intussusception and a fluid level in the small bowel, and the abdomen X-ray was indicative of distended jejunal and ileal loops (Figure 1). \nBased on the results of the physical examination and imaging, a laparotomy surgery was carried out by making a small incision in the middle of the abdomen. The intraoperative findings revealed an ileoileal intussusception measuring 21 cm in length, about 80 cm proximal to the ileocecal valve, along with edematous and distended proximal bowel. The involved segment was resected (Figure 2), and an end-to-end anastomosis was performed, also appendectomy was done. \nAfter opening the specimen, there was an intraluminal enlarged elliptical mass associated with intussusception. Histopathology investigations showed an edematous and congested serosal surface of a portion of the ileum. The microscopic examination revealed an inverted diverticula consisting of all layers of the normal intestinal wall, showing ileal mucosa as well as heterotopias such as gastric and pancreatic mucosa. Also, extensive areas of fibrosis, hyalinization, and vascular proliferation were seen. No malignancy was reported in this specimen (Figure 3).\nIn five days, the patient uneventfully recovered which was discharged. The patient was in good health at 1-year follow-up.",
"gender": "Female"
}
] |
PMC11080686
|
[
{
"age": 63,
"case_id": "PMC10786139_01",
"case_text": "A 63-year-old Caucasian man was diagnosed with PTCL with T follicular helper (TFH) phenotype, not otherwise specified, EBV negative, stage IIIA in November 2019. He was treated with CHOEP (cyclophosphamide, doxorubicin, vincristine, etoposide, and prednisone) for 6 cycles from December to April 2019, achieving a partial response. Then he received brentuximab vedotin for 9 cycles from June to December 2019, obtaining a stable disease. Therefore, the patient was treated with 8 cycles of gemcitabine plus cisplatin from June to December 2020, resulting in disease progression (PD).\nThe patient was then referred to our center, where he received ASTX-660, a novel non-peptidomimetic antagonist of apoptosis proteins (cIAP1/2 and XIAP), 90 mg BID for 2 cycles from April to June 2021, resulting in PD. The treatment was complicated by a grade 3 serum amylase and lipase increase and a grade 1 dysphagia.\nThen, the patient was candidated for treatment with valemetostat. He was in stage IIIEA (tonsil) at the beginning of the treatment (Figure 1a). He received valemetostat 200 mg/day on a continuous 28-day cycle from January to September 2022 for 10 cycles. After 2 cycles, he reached a metabolic CR (Figure 1b).\nA grade 1 COVID-19 infection complicated the treatment. The first negative swab occurred 1 month after the infection. The patient experienced two episodes of grade 2 E. coli-related urinary tract infection.\nIn October 2022, the patient underwent allo-SCT, still in CR disease status from a matched unrelated donor (HLA 9/10, for mismatch in A). The washout period between valemetostat and allo-SCT was 14 days. The conditioning regimen consisted of thiotepa, fludarabine, and cyclophosphamide. Acute graft versus host disease (GVHD) prophylaxis consisted of anti-thymocyte globulin, cyclosporine A (CSA), and methotrexate. The neutrophil engraftment occurred at day +12.\nThe treatment was complicated by Streptococcus mitis-related sepsis. At day +4, veno-occlusive disease was diagnosed, and the patient received defibrotide 6.25 mg/kg/6h for 21 days. At day +20, the patient was diagnosed with engraftment syndrome that required methylprednisolone 2 mg/kg/bid, with the improvement of symptoms. After CSA interruption, the patient experienced a progressive rash that was consistent with GVHD skin 3, gut 0, liver 0, and global 2 that required steroid therapy.\nAt the last follow-up, the patient was in good clinical condition, and the rash was vanishing. The last restaging, performed 3 months after the allo-SCT, confirmed that the patient is in continuous metabolic CR.",
"gender": "Male"
},
{
"age": 50,
"case_id": "PMC10786139_02",
"case_text": "In August 2020, a 50-year-old Caucasian woman was diagnosed with PTCL, not otherwise specified, EBV positive, stage IVB for bone marrow and tonsil involvement.\nThe patient received CHOEP for six cycles from August to November 2020 and 3 lumbar punctures with intrathecal triple therapy (methotrexate, cytarabine, and dexamethasone) as prophylaxis for central nervous system relapse. The patient reached a metabolic CR, but a bone marrow biopsy showed the persistence of lymphoma involvement. Therefore, she received a high dose of cytarabine in January 2021 with hematopoietic stem cell harvesting. A new bone marrow biopsy was still positive for lymphoma involvement.\nThen, the patient showed rapid PD with the involvement of the left adrenal gland, rhinopharynx, tonsil, bone marrow, spleen, and soft tissue. Therefore, she was referred to our center where she was treated with AFM-13 for 3 cycles from April to September 2021. After the second cycle, the restaging showed a metabolic CR, and the bone marrow biopsy excluded lymphoma involvement. Therefore, the patient was scheduled for consolidation through allo-SCT, but while the third cycle was ongoing, she experienced a new rapid PD with tonsil and spleen involvement (stage IVsA).\nIn the absence of another available clinical trial, she was treated with gemcitabine plus oxaliplatin for 3 cycles from October to December 2021, resulting in PD.\nRight before valemetostat, the patient showed disease involvement in the tongue, rhinopharynx, and bone marrow (Figure 2a).\nThe patient received valemetostat 200 mg/day for 2 cycles from January to March 2022. After the second cycle, the patient achieved a metabolic CR (Figure 2b). A new bone marrow biopsy excluded lymphoma involvement.\nThe treatment was well tolerated. The first cycle was complicated by the appearance of asymptomatic purpuric skin lesions on the inferior legs and on the right forearm. A skin biopsy showed an inflammatory process.\nThe skin lesions resolved after treatment with topic steroid. During the second cycle, a grade 1 dysgeusia occurred.\nThe patient received haploidentical allo-SCT using her brother as donor. The washout period between valemetostat and allo-SCT was 14 days. The conditioning regimen consisted of thiotepa, busulfan and fludarabine. GVHD prophylaxis consisted of cyclophosphamide on days +3 and +4 and CSA/mycophenolate mofetil since day +5. The neutrophil engraftment occurred on day 17.\nThe treatment was complicated by Staphylococcus coagulase negative-related sepsis and pulmonary invasive fungal infection.\nAt the latest follow-up, the patient was in good clinical condition, and ten months after allo-SCT, she is still in continuous CR.",
"gender": "Female"
}
] |
PMC10786139
|
[
{
"age": null,
"case_id": "PMC10893985_01",
"case_text": "After an uneventful pregnancy, a female term newborn was delivered via elective cesarean, without instrumentation. There was no history of trauma during pregnancy or delivery. The newborn was vigorous and cried immediately after birth, and Apgar scores were nine and 10 at one and five minutes, respectively. At the first examination, a 3x3 cm right parietal skull depression (Figure 1) was noted, characterized as solid, nonpulsatile, and nonmobile. Otherwise, physical and neurological examinations were unremarkable. The newborn's anthropometric measures were 2680g, 46cm in length, and 33 cm of head circumference. The infant's overall status was good during the first hours of life, and she adapted well to breastfeeding. There was no change in behavior or neurological status, and no bruising or swelling of soft tissues suggestive of acute injury.\nGiven the absence of a history of trauma, signs of acute injury, and abnormal neurological findings, a consultation with a radiologist and a neurosurgeon led to the decision to perform cranial ultrasound for radiological assessment. The ultrasound, performed on day three of life by an experienced radiologist using high-frequency linear transducer probes (5-10 MHz), revealed an abnormal skull depression at the parietal region with an inward configuration, likely because of the molding of the parietal bone (Figure 2). Scans were performed in two perpendicular planes, recording pictures in both orientations, and the contralateral area on the skull was imaged for comparison. Skull fractures and suture lines were distinguished by following suspected sutures to a fontanelle, and there were no signs of fractures, of intracranial structural anomalies, or bleeding. As the most likely diagnosis was nontraumatic CSD in a newborn with normal neurological status, a conservative management approach was chosen, with frequent clinical and radiological follow-up.\nAt the first follow-up, at 15 days of age, the depression had already decreased in both depth and size. Both physical and neurological examinations remained unremarkable, and a second ultrasound at this time confirmed the favorable clinical findings, excluding any other intracranial abnormalities. Follow-up visits continued at one month, one and a half months, two months, and three months of age, during which the depression steadily decreased, and the infant exhibited no warning neurodevelopmental signs. By the fourth month, the previously diagnosed CSD had fully regressed both clinically and radiologically. The infant's development proceeded normally.",
"gender": "Female"
}
] |
PMC10893985
|
[
{
"age": 0,
"case_id": "PMC10521090_01",
"case_text": "Although DTR 12 is not an example of a vernacular/Latin parallel gloss, it is worth discussing here. Because so far BVi. 2a28.19a has been read as Old Irish i mbe 'in which you may be', a nasalising relative construction 15 featuring the preposition i 'in' and the second singular present subjunctive of the substantive verb. This would have somehow fitted the Latin gloss found in BCr., which has the preposition in, the relative pronoun quo and also a form of the substantive verb. The latter however is the third singular perfect indicative 'he/she/it was', which is in concordance with the nominative singular Noe 'Noah'. The last word of BCr. 29b4 led me to the new (and most likely correct) reading of the parallel gloss. There is a crease in the manuscript at the beginning of BVi. 2a28.19a which makes the beginning of the gloss a bit uncertain, but it is very likely the Tironian note .i. 'i.e.'. The rest of the gloss noe is, however, clearly readable. Hence, this example shows the importance of researching glossing traditions as a whole, because only with the help of parallel glosses can certain glosses be understood and correctly interpreted. The base text of chapter XI talks about the age of the moon on the nones of May and gives Noah's ark as an example, because that's the date that Noah went into the Ark. Bede goes on to say that the moon is in its 17 th day on the nones of May [May 7] and it will be 27 days old on the day before the nones of May in the following year. The two glosses tell the reader that Bede is talking about the year in which Noah went into the Ark. This stands in opposition to the interpretation of modern scholarship. It is the common opinion nowadays that Bede is actually talking about his present. 16 Indeed, the passage is one of the examples that is used to date the composition of DTR, because the moon would have been 17 days old on May 7 in the year 722.\nCCSL 123B, 316\n Notandum sane quod nimium falluntur qui mensem definiendum uel ab antiquis definitum autumant quamdiu luna zodicaum circulum peragit, que nimirum, sicut diligentior inquisition naturarum edocuit, zodiacum quidem xxvii diebus et xiii horis, sui uero cursus ordinem xxviiii diebus DTR 13 et xii horis, salua sui saltus ratione, conficit. \nNote well that those who say that the month ought to be defined, or was defined by the ancients, as the length of time in which the Moon traverses the zodiacal circle, make a serious mistake. As more painstaking inspection of nature has taught, the Moon plainly completes the zodiac in 27 days and 8 hours, but its proper course is 29 days and 12 hours, setting aside the calculation of the \"leap of the Moon\". ( )\nDTR 13:\nAlthough the two glosses bear very similar semantics and appear at the same position within Bede's textbook, the exact connection is not clear.\nCCSL 123B, 318\n Quem decimo kl. Septembrium die terminantes, residuos quinque dies epagomenas DTR 14 uel intercalares siue additos uocant... \nthis [last month] ends on the 10 th kalends of September [23 August], and they call the remaining five days epagomena - \"intercalated\" or \"added\" ( )\nDTR 14:\nThe gloss in BVi. only consists of the nominative plural forescaidi 'superlunar'. This hapax legomenon is a compound of the preposition OIr. for 'on, upon, over' and the adjective OIr. escaide 'lunar' - an adjectival formation to OIr. escae 'moon, month'. The same concept is rendered in Latin in BCr. and Sg. with the preposition Lat. super 'on, upon, over' plus the adjective lunaris 'lunar'. The substitution of Lat. super with OIr. for is commonly found in the glosses and also in the present corpus. In DTR 21, BVi. 4b10.50 and BCr. 32a57 have the Old Irish preposition with a Roman numeral for xi 'on the eleventh' where Ang. 58a11b has super xi 'id.' (see below) 17 . While OIr. forescaidi is the only word of the gloss in BVi., the parallel gloss in the other two manuscripts offers an Isidorian etymology for the glossed lemma epogomena. This goes back to Gr. epsilonpialphagammaomicronmuepsilonnuomicronsigma 'added on' and is used for the five extra days which are added to a year in the Egyptian calendar to make each year last 365 days. Only the etymology presented in BCr. 29c1 and Sg. 63.21 helps to understand the Old Irish gloss in the Vienna Bede. It states that epogomena means 'superlunar' because mene (= Gr. muetanueta) means Lat. luna 'moon' and epo (= Gr. epsilonpiiota) means Lat. super 'on, upon, over'. Since annotating epogomena with 'superlunar' only makes sense when one knows of this made-up connection, it seems plausible that the Old Irish gloss in BVi. is a translation of the Latin found in the other two manuscripts rather than the other way around.\nCCSL 132B, 325\n Verum una re a Graecis differebant, nam illi confecto ultimo mense, Romani non confecto Februario sed post uicesimum et tertium diem eius, intercalabant, terminalibus DTR 15 scilicet iam peractis. \nOn one point, in fact, they differed from the Greeks, for while they intercalated after the end of the last month, the Romans intercalated, not at the end of February, but after its 23 rd day, that is, when the Terminalia was over. ( )\nDTR 15:\nAlthough not using the exact same words, all glosses feature the phrase 'feasts of Terminus'. In contrast to BVi., Ang. and Sg., BCr. has a more elaborate gloss which also features hic est plutonis. It is also noteworthy that in Ang. a part of a marginal gloss a few lines above (Ang. 54abis19f) features a bilingual Old Breton and Latin version of the Old Irish gloss found in BVi.: ante in dies interkalationis fiebant guilou termini 'before in the days of intercalation the feasts of Terminus took place'. only records the final two words of this gloss and accordingly connects the two Celtic glosses although they do not appear on the same lemma of the base text.\nCCSL 123B, 325-326\n Priscis temporibus pontifici minori haec prouidentia delegabatur ut nouae lunae primum obseruaret aspectum uisumque (326) regi sacrificulo DTR 16 nutiaret. \nIn olden times, the responsibility for observing the first appearance of the new Moon and of announcing its sighting to the royal sacrificing-priest was delegated to a minor priest. ( )\nDTR 16:\nAs I have in stated elsewhere ( ) the glosses in BVi. and Ang. are very likely connected and might even be translations of each other. A direction for this translation, however, cannot be established.\nCCSL 123B, 343-344\n Et ut diebus quo signare uolebamus literae sufficerent, non singulis has diebus (344) sed alternis apposuimus DTR 17 \nIn order that there might be enough letters for the days we wish to indicate, we have not placed them against every day, but against every other day. ( )\nDTR 17:\nI have already dealt with these three glosses in and I refer you to the detailed discussion there.\nCCSL 123B, 344\n ... aperto codice DTR 18 nota literam quae eidem sit praeposita diei DTR 19 ... \n[...] open the [calendar-]codex, and note the letter prefixed to that day. ( )\nDTR 18:\n has recently discussed the interconnections of OIr. felire and OBret. guiler, guilerou, guileri and OW gueleri all bearing the same semantics 'calendar'. He concluded that the latter are \"learned, erudite adaptations [...] of OIr. felire\" ( ). DTR 18 is, therefore, not necessarily an example of direct translation/transposition from Old Irish to Old Breton, but reflects common practice.\nDTR 19:\nThe glosses annotate Lat. diei 'day' in what reads in translation: \"[s]o if you wish to know what sign or what part of the month the Moon is in on any given day of the year, open the [calendar-] codex, and note the letter prefixed to that day.\" Both and translate/analyse the form of the substantive verb OIr. mbi in BVi. and BCr. as third person singular habitual present. In the light of the parallel gloss in Ang. this breakdown should be reconsidered. In analogy to Lat. es 'you are' in Ang. 57b26d, the verbal form in the Old Irish glosses should also be interpreted as second person singular habitual present. All three glosses therefore directly address the reader. While a connection between the Latin and the Old Irish glosses is very likely, the direction of translation is, unfortunately, uncertain. \nCCSL 123B, 344-345\n Cirumfer oculos ad latera - hinc Geminorum ex(345) trema , illinc DTR 20 Iunii mensis initia deprehendes esse notata. \nNow run your eye along to the margins. You will discover that the end of Gemini is noted on one side and the beginning of the month of June on the other. ( )\nDTR 20:\nWhat is interesting in this instance are the different prepositions used in the two languages: 'on' vs. 'from'. The nouns also differ, but this might be caused by the fact that the native cognate of OIr. leth, OBret. let is only attested in compounds (cf. ).\nCCSL 123B, 346\n Si uis scire quota est luna in kl. iunias anno tertio, tene regulares xii, adde epactas DTR 21 anni illius xxii, fiunt xxxiiii. Tolle xxx, remanent iiii. Quarta est luna in kl. memoratas. Quod si quis obiecerit DTR 22 uel huius uel praecedentis argumenti alicubi ordinem ordinem uacillare...",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC10521090_02",
"case_text": "If you want to know what Moon it is on the kalends of June in the third year, take the regular 12, add the epact for that year - 22 - and that makes 34. Subtract 30, and 4 remain; on the kalends in question, the Moon is four days old. Should anyone object that the order of either this or the preceding formula is shaky at any point [...] ( )\nDTR 21:\nAs already mentioned in the discussion of DTR 14 above, the Celtic-speaking practice of putting prepositions in front of dates can be also seen in the Latin gloss found in the Angers manuscript.\nDTR 22:\nThe glosses in the two languages entertain different strategies. The Latin one in Ang. has a verb in the third person singular - just like the glossed lemma. The Old Irish glosses on the other hand have a noun phrase consisting of preposition plus noun.\nCCSL 123B, 347\n Sunt autem anni tres circuli decemnouenalis in quibus idem argumentum stabilitatem DTR 23 sui tenoris conseruare nequeat... \nHowever, there are three years in the 19-year cycle when this formula cannot preserve the stability of its course [...] ( )\nDTR 23:\nIn this case it is interesting to note that the Old Irish and Latin glosses exactly mirror each other: conjunction, negative particle, verb, noun, conjunction, noun, adjective. Something that - as already mentioned above - has detected for Old Breton and Old Irish parallel glosses.\nCCSL 123B, 347\n Item anno DTR 24 xviiii, quia luna embolismi tertio die nonarum Martiarum incipit \nAgain in the nineteenth year, because the Moon of the embolismic [month] begins on the 3 rd nones of March [5 March] ( )\nDTR 24:\nThis example illustrates very well the problems of fragmentation and the poor condition of the Vienna Bede: a part of folio 4 is cut off after forcenn. Therefore, we do not know whether the gloss continued on like in BCr. or originally only had the Old Irish word for 'end'. Comparing the glosses found in Ang. and BCr., we see that in contrast to the Latin one in Angers which states that it is the end of the cycle, the Old Irish one in the Karlsruhe Bede stresses that Bede talks about the nineteen-year cycle, something that is also mentioned in the base text.\nCCSL 123B, 348\n Si enim ipsum argumentum iuxta Aegyptios a Septembrio mense ubi principium est anni eorum inchoaueris, necesse est ut luna Iulii mensis eo anno xxviiii dies ut numquam alias habeat, uno uidelicet ratione saltus amisso DTR 25 \nBut if you start [to use] this formula at the month of September, after the manner of the Egyptians, whose year begins at that point, it is necessary that the Moon of July in that year have twenty-nine days and never more, one day having been removed because of the \"leap of the Moon\". ( )\nDTR 25:\nI have already discussed these three glosses in-depth in . However, one thing I have overlooked there is the fact that both Ang. and BCr. have the preposition 'in' (in Latin and Old Irish respectively) preceding the Roman numeral 'four'. Although the gloss is very hard to decipher in BVi., it seems that it has the Tironian note .i. at this position, because at least the first full stop of it can be read.\nCCSL 123B, 350\n ... adde concurrentes sex, fiunt undecim: tolle DTR 26 septem, remanent quattuor \n[...] add the 6 concurrents, and they make 11. Take away 7, and 4 remain. ( )\nDTR 26:\nThis is the second example mentions as word-by-word correspondence between the Old Irish glosses found in BVi. and BCr. and the glosses in Ang. In contrast to DTR 2, however, Ang. has a bilingual gloss in this case. The conjugated Old Irish preposition huait - the second person singular of OIr. o 'from, out of, by' - is transposed into the Latin phrase a te 'from you'. It is worth mentioning that the same semantics are also expressed in a monolingual vernacular gloss a bit later in the Angers manuscript: ot ti 'put from you' (Ang. 59a12b). Furthermore, a gloss ate (Ang. 59a13e) is added to Lat. tolle 'remove!' only one line below. Hence, in the context of calculation instructions such phrases occur frequently. Accordingly, I feel hesitant to agree with Lambert without any doubt.\nCCSL 123B, 352\n adde xiiii fiunt cxxviiii; partire per lviiii (quinquagies nouies bini cendecusoctus DTR 27 ), tolle cxviii, remanent xxviii. \nadd 9, and that makes 129. Divide by 59: 59 times 2 is 118. Subtract 118 and 28 remain. ( )\nDTR 27:\nIn contrast to the two Old Irish glosses which have the numeral particle a, the gloss in Ang. features the third person singular present indicative of the copula in this position. Otherwise the glosses are very similar. This example is furthermore interesting because the parallel glosses do not appear in the exact same position within the base text. In BVi. and Ang. the glosses appear over Lat. cendecusoctus 'one hundred and eighteen' hence providing a vernacular translation of the somewhat hard to read long Latin number. In contrast to this, the gloss in BCr. appears in the intercolumnar space with a signe de renvois linking it to the same number which is depicted with Roman numerals just two words afterwards (cf. also Jones' edition). It is also worth mentioning that cendecusoctus appears as cendecus octus at the line break in this manuscript. The gap caused by the continuation of the number in the next line makes the following interpretation possible. The glossator of the Karlsruhe Bede could have found the gloss in their exemplar and decided to put it into the intercolumnar space, because of the line break in the lemma it is glossing. The signe de renvois was only added later and since the spelled-out number is divided by the line break the glossator (or somebody else) did not look at the original lemma anymore, but decided that the gloss is for the Roman numeral cxuiii which appears as the third \"word\" in the line.",
"gender": "Male"
}
] |
PMC10521090
|
[
{
"age": 26,
"case_id": "PMC10629313_01",
"case_text": "A 26-year-old man was diagnosed with an autism spectrum disorder in childhood and had been walking on tiptoes. At the age of 18, he started holding on to something when he stood, and 12 months ago, he began to drag his feet, gradually becoming unable to stand up straight, and developed frequent urination. Although MR imaging revealed a cervical cord enlargement, it was judged to have no pathological significance, and the patient was followed up by MR imaging at that time. Three months ago, he was referred to our hospital, complaining of urinary retention and progressive right upper limb movement disorder. Steroid pulse therapy was applied as a demyelinating disease was suspected. However, 1 month ago, the upper limb paralysis worsened. Due to the rapid progression of the symptoms, he was referred to our department. At the examination, the patient's consciousness level was JCS I-3, and both upper and lower extremities showed severe paresis. Cervical T2-weighted MR imaging showed diffuse spinal cord swelling from the C2 to the Th2 level, and gadolinium-enhanced T1 images showed heterogeneous enhancement of the swollen spinal cord [Figure 1]. The patient's symptoms rapidly progressed just before surgery, resulting in abdominal breathing. Therefore, the patient underwent tumor biopsy, C2 domotomy, and C3-C7 decompressive laminectomy with expansive duroplasty to verify the final diagnosis and decide further therapy options. The pathological diagnosis was DMG, H3K27-altered. On the day after surgery, contrast-enhanced head-and-neck computed tomography (CT) showed no obvious abnormalities. Still, on the same day, consciousness disorder and complete paralysis of both lower limbs developed, and spontaneous breathing deteriorated, requiring tracheal intubation. At that time, there was no low attenuation in the cervical spinal cord on imaging. On postoperative day 7, when the patient's overall condition stabilized, head-and-neck CT revealed acute hydrocephalus and diffuse hypodensity in the cervical spinal cord [Figure 2], and an emergency third ventriculostomy was performed. However, his spontaneous breathing disappeared the day after the ventriculostomy. Contrast-enhanced MR imaging of the whole spine 2 months after the surgery revealed diffuse heterogeneous enhancement of the atrophic spinal cord in suspicion of the disseminated lesion or residual tumors with multiple syrinxes [Figure 3]. The patient died after his transfer to a convalescent care facility.",
"gender": "Male"
}
] |
PMC10629313
|
[
{
"age": 20,
"case_id": "PMC10960533_01",
"case_text": "A 20-year-old primigravida woman who did not remember her last menstrual period but stated that she had been amenorrheic for the past 6 months was referred to our hospital with a diagnosis of second trimester pregnancy plus disseminated intravascular coagulation (DIC) plus missed abortion and complained of lower abdominal pain for 1-week duration. Associated with this, she experienced easy fatigability, dizziness, blurred vision, and vertigo of the same duration.\nPhysical examination revealed blood pressure of 85/50 mmHg, with a pulse rate of 126 beats per minute (bpm). The patient had pale conjunctiva and tender abdomen. Obstetric ultrasound examination revealed a 22-week consistent pregnancy in the peritoneum, negative fetal heartbeat, empty uterus, and free fluid in Douglas and Morrison's pouch. Laboratory results showed a hemoglobin concentration of 4.3 g/dL.\nOwing to unstable vital signs, the patient was transfused with three units of screened, cross-matched whole blood. After informed consent was obtained, the patient was rushed to the operating theatre with a preoperative diagnosis of uterine rupture.\nIntraoperative findings revealed hemoperitoneum of 2L, 500gm freshly dead male fetus and placenta, respectively (Figure 1). Further inspection revealed a bicornuate uterus and fundal uterine rupture in the left uterine segment (Figure 2). The hemoperitoneum was suctioned, the placenta and fetus were removed, and the uterus was repaired using a size 1 Vicryl suture (Figure 3).\nThe patient's postoperative recovery was uneventful, and she was discharged on her fifth postoperative day. The patient was counselled on family planning for at least one year, and any future pregnancy would require elective cesarean delivery.",
"gender": "Female"
}
] |
PMC10960533
|
[
{
"age": null,
"case_id": "PMC11073851_01",
"case_text": "Their ages ranged from 7 to 9 years. Patients #1 and #2 had allergies to household dust and tree nuts, respectively, and patient #2 had a history of bronchial asthma. All patients had recurrent upper gingival swelling and bleeding in the region when brushing, and patient #1 also presented with recurrent labial swelling. Prior to referral to the Oral Diagnosis and Medicine Department at Hokkaido University Hospital, patients underwent antimicrobial therapy with amoxicillin or cefcapene pivoxil and corticosteroid ointment application, which failed to improve their symptoms.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11073851_02",
"case_text": "The four patients had poor oral hygiene and presented with edema with redness in the upper anterior gingiva. Panoramic X-ray and/or computed tomography scans showed no signs of bone resorption adjacent to the lesion in each patient. Blood tests revealed that patients #2 and #3 had high IgE levels. Thus, the initial diagnosis for patient #1 was plaque-induced gingivitis, whereas patients #2 and #3 were diagnosed with allergic gingivitis. In addition, patient #4 was diagnosed with plaque-induced gingivitis and suspected hereditary angioedema (HAE).\nFirst, all patients received oral health care to improve their oral hygiene in collaboration with the Pediatric Dentistry Department at Hokkaido University Hospital. These patients received tooth brushing instructions and professional mechanical tooth cleaning (PMTC) by pediatric dentists. However, these patients demonstrated persistent swelling in the upper gingiva 1 month after the therapeutic intervention, ultimately excluding plaque-induced gingivitis.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11073851_03",
"case_text": "Furthermore, all patients underwent incision biopsy from the edematous regions under local anesthesia, which revealed granulomatous inflammation. To evaluate whether the oral manifestation was an associated symptom of systemic disease, pediatric consultation with the Department of Pediatrics at Hokkaido University was obtained for all patients. Eye and cardiac examination, fecal occult blood test, and chest radiography were performed, and no patient presented with any signs of Crohn's disease or sarcoidosis. A further blood test was conducted on patient #4, who developed recurrent labial swelling. The test demonstrated normal serum C4 levels and no signs of C1 inhibitor deficiency, which resulted in the exclusion of HAE. Patient #1 received local corticosteroid treatment with gargling 0.01% dexamethasone solution after each meal, whereas patients #2, 3, and 4 received systemic corticosteroid treatment orally, which successfully improved their symptoms. The corticosteroid dosage was gradually reduced, and patients #2 and #4 showed mild to moderate side effects, including declining adrenal cortex function, moon faces, and weight gain. Signs and symptoms improved after both patients completed corticosteroid treatment. Conversely, patient #3 experienced recurrence of upper gingival swelling 5 months after completing the corticosteroid treatment. Since the patient #3 presented mild swelling without any pain and did not exhibit further symptoms associated with systemic diseases, the patient did not receive any treatment. All patients are currently being monitored regularly.",
"gender": "Unknown"
}
] |
PMC11073851
|
[
{
"age": 59,
"case_id": "PMC10725096_01",
"case_text": "A 59-year-old Hispanic woman with a history of type 2 diabetes mellitus, hyperlipidemia, and fatty liver disease presented to the emergency department (ED) with a 1-day history of nausea and abdominal discomfort. She reported that her abdominal girth progressively increased over the last 3 months and caused her discomfort. She denied any vomiting, fever, chills, diarrhea, constipation, hematemesis, hematochezia, melena, weight loss, changes in her appetite, or early satiety. Notably, the patient had a surgical history of total hysterectomy with unilateral salpingo-oophorectomy due to menorrhagia.\nIn the ED, the patient was afebrile, and the rest of her vital signs were within normal limits. On examination, her abdomen was distended and showed a positive fluid wave. A palpable mass was first observed in the periumbilical region, the size of an adult fist, and the liver was grossly enlarged. However, there was no rebound tenderness, guarding, or rigidity. The remainder of the physical examination was unremarkable.\nLaboratory results showed a hemoglobin level of 9.7 g/dL (normal range, 12-16 g/dL) and hemoglobin A1c of 6.2% (normal range, 4%-6%). The rest of the cell lines, liver enzymes, coagulation panel, and serum lipase levels were all unremarkable. Urinalysis and hepatitis panel results were also negative. Contrast-enhanced computed tomography (CT) scan of the abdomen and pelvis revealed large ascites with a mass effect, omental caking, and focal peritoneal soft tissue lesions, raising concerns of peritoneal carcinomatosis (Figure 1).\nA tumor marker panel revealed an elevated carcinoembryonic antigen (CEA) level of 450 ng/mL (normal level: <3 ng/mL), a normal alpha fetoprotein level of 1 ng/mL (normal level: 0.5-9 ng/mL), an elevated cancer antigen (CA) 19-9 level of 1725 U/mL (normal level: 0-35 U/mL), and an elevated CA125 level of 93.9 U/mL (normal level: <38.1 U/mL).\nDiagnostic paracentesis was attempted, which yielded 2 mL of mucinous ascites consistent with neoplastic etiology, but the ascitic fluid cytology was negative for malignancy. The patient underwent diagnostic laparoscopy (Figure 2), peritoneal biopsy, abdominal washout, and right subclavian chemoport placement. Peritoneal biopsy findings showed a low-grade mucinous neoplasia/carcinoma, consistent with PMP. Computed tomography scans of the chest and brain did not show any metastases. The patient was discharged with instructions for close follow-up with oncology and surgery for further treatment.\nA month after discharge, the patient followed up with the oncology and surgical clinics for continued care. After discussing the biopsy results, the multidisciplinary tumor board reached a consensus to proceed with cytoreductive surgery (CRS), including the removal of the appendix. During the surgery, the patient was noted to have mucinous deposits and carcinomatosis of the entire abdomen and all 13 regions of the abdomen. The surgeons calculated a peritoneal cancer index (PCI) score of 24.\nExploratory laparotomy, evacuation of 2 L of mucinous ascites, abdominal washout, near-total omentectomy, and appendectomy were performed. Complete CRS was avoided as the risks outweighed the benefits. Residual tumor deposits could be seen at the top of the mesentery of the small bowel. The surgical pathology report was significant for a metastatic appendiceal low-grade mucinous neoplasm (Figure 3). The tumor involved the omentum, falciform ligament, peritoneum, and hernial sac. At the postoperative follow-up appointment with the surgical clinic, the patient reported feeling well and denied abdominal pain or changes in stool caliber. It has been 4 months since the patient underwent CRS and she continues to defer the chemotherapy. She may be a candidate for HIPEC in the future.",
"gender": "Female"
}
] |
PMC10725096
|
[
{
"age": 28,
"case_id": "PMC10516756_01",
"case_text": "Patient information: a 28-year-old male undergraduate presented to the Accident & Emergency unit with abdominal pain of three weeks duration and associated abdominal swelling of two weeks duration. Abdominal pain was located at the periumbilical region, colicky in nature, not radiating, with no known aggravating or relieving factors. There was no history of vomiting, no diarrhoea or constipation and no jaundice. Abdominal swelling initially affected the periumbilical region and then progressed to become generalized. No renal or cardiac symptoms. He had no past medical history of note. However, there was a history of significant alcohol intake and smoking of cigarettes (including Marijuana).\nClinical findings: on physical examination, he was an acutely ill-looking young man in moderate painful distress. He was afebrile, anicteric, and not pale. He neither had significant peripheral lymph node enlargement, finger clubbing nor pedal oedema. His abdomen was uniformly distended, and tense with visibly distended superficial abdominal veins. There was marked tenderness especially around the umbilical region with rebound tenderness. The umbilicus was also hard and nodular. There was no organomegaly, but he had ascites. Ascitic tap done was haemorrhagic. Digital rectal examination was unremarkable. Other systemic examinations were essentially normal. An initial clinical diagnosis of acute abdomen with ruptured viscus was made, with prompt referral to the surgeons.\nDiagnostic assessment: preliminary results of investigations revealed; full blood count - lymphopenia (19.9%) and eosinophilia (see investigation table below), erythrocyte sedimentation rate (ESR) was 27mm/hr, urea and electrolytes, urinalysis, liver function tests were essentially normal. Viral screenings were negative. An Abdominal ultrasound scan revealed mild hepatomegaly, ascites and marked probe tenderness over the umbilicus. Chest x-ray was normal while a plain abdominal x-ray done showed abnormal bowel gas distribution with multiple abnormally distended peripherally sited proximal and distal large bowel loops with multiple air fluid levels. There were no features suggestive of bowel perforation. A surgical abdomen was then excluded by the attending surgical unit. Following a review by the gastroenterology team due to persistent severe abdominal pain, swelling and bloody ascitic tap, a diagnosis of haemorrhagic pancreatitis was considered. The following additional investigations were done; ascitic fluid analysis- high serum ascitic albumin gradient (1.7g/dl), ascitic glucose was raised (5.2mmol/l, <3.5mmol), microscopy showed an inflammatory smear, eosinophils were not detected. Serum amylase was mildly elevated, whereas serum lipase was normal. Ascitic fluid geneXpert was negative for mycobacterium tuberculosis (Table 1). The patient was also unresponsive to spironolactone and frusemide. Repeated abdominal-paracentesis were carried out (with the administration of salt-poor albumin) to relieve the distension, however with rapid re-accumulation.\nDiagnosis: at this point, an MDT meeting and joint bedside re-evaluation of the patient was held and involved the surgeons, physicians, and radiologists. The diagnosis was further reviewed to refractory ascites secondary to a gastric malignancy (with the presence of Sister Mary Joseph s nodule). Tumour markers (carcinoembryonic antigen, CA19-9, alpha-fetoprotein, prostate-specific antigen) were all within normal reference limits (Table 1). Histology of biopsy of the umbilical nodule was suggestive of metastatic signet ring carcinoma. Abdominal CT scan showed normal liver size, no masses seen, copious hypodense ascites, with an umbilical hyperdense mass. The Gastric wall was grossly but uniformly thickened. A differential of Linnitis Plastica was made (Figure 1). He was booked for endoscopy (upper and lower) but he was too ill to withstand the entire procedure (however colonoscopy was normal, Figure 2).\nTherapeutic interventions: with these findings, the MDT decided to commence the patient on a trial course of cytotoxic medications (Capecitabine).\nFollow-up and outcome of interventions: however, he passed on two weeks after this decision was taken. The bereaved family, declined an autopsy which would have been helpful to obtain a histological diagnosis.",
"gender": "Male"
},
{
"age": 53,
"case_id": "PMC10516756_02",
"case_text": "Patient information: a 53-year-old man presented to the Accident and Emergency (A & E) unit with a one-week history of passage of melena stools and associated fainting spells. There was also a history of epigastric pain prior to onset of symptoms, however no hematemesis or hematochezia. No abdominal swelling or jaundice. However, the patient admitted a history of chronic use of non-steroidal anti-inflammatory drugs (NSAIDs) for chronic back pain (he was admitted into the A & E ward a month earlier for severe lower back pain where NSAIDs were given to alleviate the pain). Patient drinks alcohol significantly but does not smoke cigarettes. He is a known hypertensive but not diabetic.\nClinical findings: a general physical examination revealed a middle-aged man, obese, moderately pale, with no peripheral stigmata of chronic liver disease and no pedal edema. Systemic examination revealed an abdominal fat apron with epigastric tenderness. No organomegaly, no ascites. Digital rectal examination revealed normal prostate, and examining finger was stained with melena stools. He was hemodynamically unstable with tachycardia and orthostatic hypotension. An initial clinical diagnosis of NSAID-induced erosive gastritis (complicated by hemodynamic instability) was made. He was subsequently resuscitated (with saline infusion and blood transfusion) and given intravenous proton pump inhibitors. Upper GI endoscopy was deferred due to his ill clinical state.\nDiagnostic assessment: preliminary tests showed abnormal haematological findings such as; markedly prolonged prothrombin time, deranged INR, anaemia and severe thrombocytopenia as well as leucoerythroblastic picture on peripheral blood film. These results coincided with the presentation of frank haematuria as well as desaturation in room air (with the patient requiring supplemental oxygen PRN). Other ancillary investigations such as liver function test, serum electrolytes, serum calcium, serum protein, and ESR were unremarkable (Table 2). An initial CT scan of the lumbosacral spine, however, noted widespread patchy osteolytic bone lesions within the vertebral bodies, pelvic bones and proximal femur suggesting multiple myeloma to rule out metastasis to the spine/bones (Figure 3). Prostate- specific antigen (PSA) was within the normal range. However, serum LDH was markedly raised (Table 2). Bone marrow aspiration cytology was suggestive of metastatic secondaries to the bone marrow to rule out myelodysplastic syndrome & multiple myeloma (Figure 4). A chest & abdominal CT scan revealed the florid bone involvement earlier noted as well as inhomogeneous infiltrates in the lungs and lymphadenopathy (hilar, paratracheal, mesenteric and retroperitoneal). Gastric wall thickening was also evident (Figure 5, Figure 6).\nDiagnosis and therapeutic interventions: following an MDT meeting (physicians, haematologists and orthopaedic surgeons), the diagnosis was further reviewed to Disseminated Intravascular Coagulation (DIC) from an unknown primary cancer. Based on the outcome of the MDT meeting, he had transfusion support with fresh whole blood, fresh frozen plasma and platelet concentrate. The results of the serum protein electrophoresis and serum free light chain were not suggestive of Multiple myeloma. Bone marrow biopsy was planned but deferred as the patient was unfit for the procedure (due to the presence of bleeding diathesis). Screening tests for COVID-19 and invasive fungal infection were negative (Table 2).\nFollow-up and outcome of interventions: three weeks into his management, he desaturated in room air less frequently, the passage of melena stools abated, the haematuria resolved. However, five days later he suddenly developed paraplegia. A magnetic resonance imaging of the lumbosacral spine revealed metastatic vertebral disease with multilevel spinal cord compression - intervertebral disc herniation with thecal cauda-equina and nerve root compression (Table 2). Based on this development, he was subsequently placed on high-dose steroid therapy. However, in accordance with the patient s (and family s) request, he was referred to the USA for further evaluation and care. Three weeks after arrival at a cancer hospital in the USA, a conclusive diagnosis of gastric cancer with distant metastasis was made. Unfortunately, he reportedly passed on.\nInformed consent: it was obtained from the patients' relatives following their demise.",
"gender": "Male"
}
] |
PMC10516756
|
[
{
"age": 41,
"case_id": "PMC10905163_01",
"case_text": "We report the case of a 41-year-old Lao woman who lived in Vientiane Capital, Laos. She was diagnosed with sarcoidosis two years prior to presentation, although details of the diagnostic work-up were unavailable. She had no other notable past medical history apart from early menopause aged 39 years old.\nOne month before her admission with appendicitis, she was admitted to our hospital with cough and dyspnoea. A thoracic computerised tomography (CT) scan demonstrated a mild-to-moderate left-sided pleural effusion alongside widespread peribronchovascular honeycombing and hilar-mediastinal lymphadenopathy; this was diagnosed as stage IV sarcoidosis. Investigations for tuberculosis were not performed. She remained in hospital for 2 weeks, and on discharge was prescribed prednisolone 40 mg daily to control a sarcoid flare.\nShe re-presented 2 weeks later with a five-day history of worsening abdominal pain in the right upper and lower quadrants, and diarrhoea. On admission she was afebrile, with unremarkable vital signs (blood pressure 110/80 mmHg, heart rate 74 bpm, peripheral oxygen saturations 98% on room air, and respiratory rate 20/min). An abdominal ultrasound scan demonstrated hepatomegaly; the appendix was not described. She was diagnosed clinically with appendicitis and taken for surgery the same day. Intra-operative findings included peritonitis, copious amounts of pus and a caecal mass (10 x 10 cm). She underwent a hemicolectomy with primary ileo-colic anastomosis. The caecal mass was excised and sent for histopathological examination, and showed suppurative appendicitis.\nPost-operatively, she was treated with ceftriaxone (2 g intravenously, every 24 hours), gentamicin (5 mg/kg intravenously, once daily) and metronidazole (500 mg intravenously, every 8 hours), and she initially improved. However, a florid, disseminated pustular rash developed the following day, initially across her left chest, before spreading to her upper thighs and lower abdomen ( Figure 1A). The rash consisted of numerous small, well-demarcated erythematous lesions of varying sizes, many with pustules ( Figure 1A, inset). On direct questioning, the patient's family revealed, surprisingly, that a milder version of this rash had first appeared on the patient's arms and legs two months earlier, although it is unclear if it truly had the same appearance and aetiology. Of note, a biopsy of one of these lesions was taken prior to this admission, in connection with her admission for presumed sarcoidosis. The skin biopsy demonstrated a nodular infiltrate in the dermis, composed of a histiocytic aggregation and neutrophilic micro-abscesses admixed with plasma cells, and multinucleated giant cells. No sarcoid granulomas or bacteria were seen. The histopathology report commented that the observed mixed cell granulomas can be associated with chronic granulomatous infections; notably, these findings are consistent with listeriosis.\nOn the fourth post-operative day, the patient deteriorated with septic shock and respiratory failure, with a blood pressure of 80/50 mmHg, respiratory rate of 38/minute and peripheral oxygen saturations of 85% on room air. She was transferred to the Intensive Care Unit for inotropic and vasopressor support with noradrenaline, and was intubated 3 days later due to further respiratory deterioration. Of note, prior to intubation, the patient did not exhibit any signs of meningitis. The antibiotics were escalated empirically to meropenem (1 g intravenously, every 8 hours) and a blood culture was sent, along with a bacterial swab of the pustular rash.\nThe blood culture flagged positive after 18 hours, with Gram-positive rods seen on Gram stain, subsequently identified as Listeria monocytogenes by MALDI-ToF. At the same time, L. monocytogenes also grew from the pus swab, confirming a diagnosis of disseminated listeriosis. Initially, meropenem was continued to provide ongoing broad-spectrum coverage given the recent intra-abdominal pathology. Two days after L. monocytogenes was isolated, the antibiotic was switched to high-dose intravenous ampicillin (2 g, 6 times daily), which was continued for the remainder of the admission. The isolates from both blood and pus were sensitive to penicillin, meropenem, co-trimoxazole and erythromycin, as determined by disk diffusion testing ( https://www.eucast.org).\nThe appearance of the rash improved, with some resolution of the pustules, but unfortunately, the patient's clinical condition was unchanged, with on-going cardiorespiratory failure. Given the lack of clinical improvement, the severity of the infection, and the poor prognosis of invasive listeriosis, after one week of intensive care treatment, the decision was taken by the patient's family to stop active treatment. It was arranged for her to be taken home for end-of-life care.",
"gender": "Female"
}
] |
PMC10905163
|
[
{
"age": 34,
"case_id": "PMC10564457_01",
"case_text": "On January 17, 2023, a previously healthy 34-year-old man was admitted to the intensive care unit (ICU) of the Hospital de Base de Sao Jose do Rio Preto presenting malaise, daily fever, myalgia, vomiting, abdominal pain, prostration, loss of appetite, fainting, and mental confusion. The onset of his symptom began five days before hospitalization. Two days after the onset of symptoms, he experienced persistent fever, headache, myalgia, arthralgia, and skin rash, leading up to hospital admission.\nUpon admission, the patient also exhibited low blood pressure of 94 x 50 mmHg, a heart rate of 120 beats per minute, a respiratory rate of 27 breaths per minute, a body temperature of 37.6 C, and a peripherical oxygen saturation level of 96% with supplemental support. Given the hypotension, the administration of vasoactive drug, specifically noradrenaline at a dosage of 0.25 mcg/kg/min, was initiated. Initially, dengue fever was suspected but the detection of NS-1 antigen yielded negative results. Empiric antibiotics administration (ceftriaxone 2 g/day and doxycycline 200 mg/day) was also started due to suspicion of sepsis. An ultrasonographic examination revealed a thin layer of perirenal fluid around the right kidney, raising the possibility of acute kidney injury. The chest x-ray did not show any notable abnormalities. Table 1 summarizes all the tests conducted.\nThe hospital epidemiological surveillance team, which had been closely monitoring the case, suspected that the patient was suffering from COVID-19-related multisystem inflammatory syndrome. Subsequently, the medical team conducting the investigation on the patient's COVID-19 history was able to identify a reverse-transcriptase PCR to COVID-19 positive in December 2022. When questioned, the patient reported symptoms such as cough, sore throat, and myalgia, with COVID-19 diagnosis on December 19, 2022.\nThree days after ICU admission, his condition began to deteriorate further. He developed worsening skin rash, conjunctivitis, and shock. A transthoracic echocardiogram revealed an ejection fraction of 63% and mid-basal hypokinesia in left and infer-septal wall of left ventricle. In an attempt to manage the condition, the medical team initiated treatment with human immunoglobulin (2 g/kg) and methylprednisolone (2 mg/kg/day). At this moment, the macrophage activation syndrome was also considered, although the patient had been presenting only fever, without hematological abnormalities or organomegalies. Then, other laboratory findings were not investigated. The patient's condition remained severe and progressed to multiorgan failure. The patient passed away four days after admission, 33 days after COVID-19 diagnosis (Figure 1).\nThe case was reported to the Brazilian Ministry of Health and, after thorough investigation, it was determined that the event met the criteria for MIS-A, which was temporally associated with COVID-19. This was the first confirmed case of MIS-A resulting in death in Brazil.\nThis study was submitted and approved by the Research Ethics Committee of the Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP), Sao Paulo, Brazil (protocol No 58659522.1.0000.5415, June 10, 2022).",
"gender": "Male"
}
] |
PMC10564457
|
[
{
"age": 66,
"case_id": "PMC10901051_01",
"case_text": "A 66-year-old male was referred to the maxillofacial surgery department at the Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia, due to a persistent 3-month history of pain and numbness associated with a nonhealing extraction socket along his right alveolar ridge. The patient denied having any medical illnesses, shortness of breath, or dysphagia. He reported minimal weight loss over the past few months. He was a former smoker who had quit 40 years earlier, and he did not use any smokeless tobacco products or consume alcoholic beverages. Upon clinical examination, mild right facial swelling with a normal overlying skin color was noted, and no palpable cervical lymph nodes were detected. The intraoral findings were an ulcerative lesion with exposed bone on the right posterior alveolar ridge at the site of a recently extracted tooth. The patient had fair oral hygiene and a normal mouth opening and normal tongue mobility, with no uvular deviation or visible masses in the oropharynx.\nAn incisional biopsy of the mandibular alveolar ridge revealed well-differentiated OSCC invading to the underlying bone. Another biopsy was taken from a suspicious area on the right lateral tongue, and it showed a nonspecific ulcer plus multiple lymphocytic aggregates in the salivary gland parenchyma (Figure 1). A diagnosis of lymphoproliferative disorder was reported, and further investigation was needed to rule out lymphoma.\nThe preoperative head and neck computed tomography (CT) scan revealed a lytic lesion in the right mandibular body that extended from the right cuspid anteriorly to the remaining molar posteriorly. The lesion was noted to have eroded both the lingual and buccal plates of the mandible, indicating an aggressive tumor. The extraosseous soft tissue extension also suggested that the tumor had invaded the surrounding tissues (Figure 2(a)). Moreover, the neck CT scan with contrast showed a left level IV/supraclavicular lymphadenopathy with a matted appearance (see Figure 2(b)). The largest node measured approximately 2.0 x 2.0 cm in maximum diameter on the axial plane. Abdominal and pelvic CT scans demonstrated radiographic features of extensive, discrete, matted retroperitoneal lymph nodes suggestive for lymphoma. Finally, single-photon emission computed tomography imaging showed no signs of bone metastasis.\nA laboratory workup was done to prepare the patient for surgical intervention, including a complete blood count with differential. The laboratory results showed a low hemoglobin level (9.8 g/dL); normal platelet count (366 x 109/L); elevated white blood cell count (160.43 109/L); and automated lymphocyte (138.93 K/microL), eosinophil (1.89 K/microL), basophil (0.24 K/microL), monocyte (2.58 K/microL), and immature granulocyte (0.51 K/microL) counts, whereas the automated neutrophil count was normal (6.30 K/microL). Additionally, the atypical lymphocytes were elevated at 37%. The serum iron level was decreased (5.7 mumol/L), whereas the liver function test showed an increase in the alkaline phosphatase enzyme level (129 U/L) and the coagulation profile showed an increase in both the prothrombin time (15.7 s) and activated partial thrombin time (37.3 s), with an international normalized ratio equal to 1.09.\nFlow cytometry was done after the unexpected results of the white blood cell count and interpreted as follows: the percentage of nucleated cells in the peripheral blood sample was 84.2%, of which 13.8% were normal cells and 70.4% were abnormal B cells that were positive for CD79a, CD19, CD10 (dim), CD45, CD20, HLA-DR, CD22, and positive to anti-kappa antibodies, but negative for CD3, FMC7, CD30, CD23, CD123, CD5, and CD2. These findings were consistent with a CD5-/CD10+ B-cell lymphoid neoplasm, which was most likely of an indolent nature. The patient was referred to the hematology/oncology department for further evaluation and treatment. The surgical removal of the OSCC with lymph node dissection was prioritized in the treatment of the patient.\nThe surgical treatment consisted of a composite resection of the right mandible with right selective neck dissection. The surgical defect was reconstructed using a fibula free flap and split-thickness skin graft. The final pathology report confirmed the diagnosis of a well-differentiated squamous cell carcinoma (SCC) (PT4) with clear margins. The cervical lymph node examination showed no microscopic overt evidence of metastatic SCC. However, features suggestive of follicular lymphoma with back-to-back follicular proliferation and an absence of the mantle zone were observed. Immunohistochemical staining showed the positivity of CD10, BCL6, and BCL2 in the areas corresponding to the follicular pattern, whereas CD5 was negative, confirming the diagnosis of grade 1 or 2 follicular lymphoma of the cervical lymph nodes (Figure 3). Based on the AJCC (Americal Joint Committee on Cancer) criteria (8th edition), the OSCC was staged as PT4aN0M0. \nThe multidisciplinary consensus recommendation for postsurgery treatment was to proceed with adjuvant radiotherapy for OSCC and implement a watch-and-wait approach with close monitoring in the hematology clinic for follicular lymphoma.\nThe patient's white cell count decreased to the 20s, whereas his hemoglobin and platelet levels remained normal. He started to gain weight slowly after recovering from surgery and radiotherapy. Eighteen months after the primary diagnosis, there were no signs of disease progression, and there was no indication that further therapy was needed for follicular lymphoma. The patient had minor functional sequelae of the mouth, dysphagia, and xerostomia, but he did not experience any weight loss.",
"gender": "Male"
}
] |
PMC10901051
|
[
{
"age": null,
"case_id": "PMC10625819_01",
"case_text": "A male patient in his 70s with a medical history of hypertension, obstructive sleep apnea, and osteoarthritis was diagnosed with stage 3a cutaneous melanoma (BRAF wildtype, NRAS mutated). He had a remote surgical history of tibia/fibula fracture and inguinal hernia repairs. He had no personal or family history of autoimmune disease. He underwent wide local excision of the primary melanoma and sentinel lymph node biopsy followed by 1 year of adjuvant PD-1 inhibition with nivolumab. After four cycles, he developed grade 1 rash which was treated with topical hydrocortisone. He further experienced ICI-related hypothyroidism after his ninth cycle and was started on thyroid hormone replacement. He completed 13 total cycles and has remained on surveillance since, with no clinical or radiographic evidence of recurrence to the present day.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10625819_02",
"case_text": "Three weeks after receiving his last dose of nivolumab, the patient underwent an elective uncemented right total hip replacement with bone graft to the acetabulum under spinal anesthetic for osteoarthritis. The surgery was uncomplicated, and the patient remained as an inpatient post-operatively for mobilization. Upon waking from general anesthesia, he noted new bilateral ankle swelling as well as severe left leg pain. On post-operative day one, he further experienced symptomatic orthostatic hypotension. Despite this, he was deemed medically fit for discharge and returned home after one night in hospital.\nAfter discharge, the patient's condition substantially deteriorated. His peripheral edema progressed to involve all four extremities and became functionally impairing (Fig. 1a). He developed bilateral ankle, knee, wrist, and hand pain with intense hyperalgesia and morning stiffness. Associated fatigue and generalized weakness rendered him largely bedbound. When attempting ambulation, he described symptomatic orthostatic hypotension concordant with 20-30 mm Hg systolic blood pressure drops on home measurements. There was no history of fever, rash, focal infectious symptoms, syncope, palpitations, dyspnea, or hemoptysis.\nAfter 2 weeks of progressive symptoms, baseline blood investigations were ordered by the patient's primary care provider. Post-operative infection was suspected due to neutrophilia of 9.9 x 109/L; thus, a course of quinolone antibiotic was prescribed. Concurrent poly-articular gout was also considered for which non-steroidal anti-inflammatory medication was suggested. Both medications were taken as directed without interval improvement.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10625819_03",
"case_text": "Three weeks after surgery, the patient presented to the emergency department due to persistent symptoms. Physical exam revealed an afebrile, normotensive male with orthostatic systolic blood pressure drop of 40 mm Hg, pitting edema to all limbs, as well as swollen and tender bilateral ankles and right wrist joints. An admission to the internal medicine ward was deemed necessary for further assessment and management.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10625819_04",
"case_text": "Upon admission, a wide differential diagnosis was considered including infection, renal or liver dysfunction, endocrinopathy, cardiac decompensation, venous thromboembolism, and rheumatologic disease. Key investigations are summarized in Table 1. In brief, the patient had a normocytic anemia with hemoglobin 104 g/L (pre-operative: 143 g/L). There was a mild neutrophilia and thrombocytosis. Renal and liver profiles were within normal limits. Hypoalbuminemia of 28 g/L was noted (pre-operative: 43-48 g/L). Two sets of blood cultures did not show any growth. Arthrocentesis for synovial fluid analysis was not performed. Troponin and B-type natriuretic peptide were both negative. Vitamin B12, glycosylated hemoglobin, triglycerides, thyroid-stimulating hormone, morning cortisol, adrenocorticotropic hormone, uric acid, and creatine kinase were all within normal limits. 0,25-vitamin D was low. Serum protein electrophoresis revealed a small unquantifiable M protein.\nTransthoracic echocardiogram showed normal biventricular size and function. Diastolic function was mildly impaired, but with normal filling pressures. There was no significant valvular disease. Doppler ultrasounds and CT pulmonary angiography were negative for deep vein thrombosis and pulmonary embolus, respectively. Ankle-brachial indices were normal.\nFinally, ferritin, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) were all markedly elevated. Rheumatoid factor returned weakly positive at 16 IU/mL (normal <=14 IU/mL); however, cyclic citrullinated peptide was negative. Anti-nuclear antibody, anti-neutrophil cytoplasmic antibodies, and human leukocyte antigen-B27 were negative. X-rays of the affected joints were not performed.\nWith no etiology for orthostatic hypotension identified, a supportive approach to management was taken. The patient's postural symptoms resolved with initiation of midodrine and fludrocortisone, and he was discharged home without improvement in his peripheral edema. The possibility of an inflammatory arthritis was raised given the constellation of joint pain and elevated inflammatory markers; therefore, a referral to outpatient rheumatology was arranged. In the interim, the patient's primary care provider initiated a trial of oral diuretic with no response.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10625819_05",
"case_text": "Two months after symptom onset, the patient was seen by a rheumatologist who established the diagnosis of RS3PE. The patient was started on prednisone (20 mg daily) which resulted in rapid improvement in his weakness, joint pain, and peripheral edema. Blood collection was repeated after 2 weeks of steroids which revealed improving inflammatory markers (CRP 44.9 mg/L from 183 mg/L, ESR 65 mm/h from 113 mm/h) and hypoalbuminemia (36 g/L from 28 g/L). He was able to discontinue midodrine, fludrocortisone, and furosemide without recurrent symptoms. After 4 months of follow-up, the patient was reported to be continuing a steroid taper with a transition to methotrexate underway. He endorsed mild residual ankle swelling and joint discomfort but was otherwise working to return to his functional baseline (Fig. 1b, 2).",
"gender": "Male"
}
] |
PMC10625819
|
[
{
"age": 18,
"case_id": "PMC10753629_01",
"case_text": "An 18-year-old adolescent came to our medical center from a local hospital for further management of a giant anterior mediastinum mass. Four months before this admission, he underwent a routine health examination at a local health institution and found a large mass in the mediastinum without any clinical symptoms, such as chest pain, dyspnea, or cough. For further treatment, he was referred to a comprehensive oncology hospital, and malignant GCT was diagnosed by mediastinal biopsy. Therefore, combined chemotherapy with etoposide (100 mg/m2 IV on Days 1-5), bleomycin (30 units IV on Days 1, 8, and 15), and cisplatin (20 mg/m2 IV on Days 1-5) was subsequently initiated. However, when four cycles of chemotherapy were finished, he underwent a chest CT again, which indicated that there was no obvious improvement. Hence, he received radiotherapy (the specific dose was not known) at another oncology hospital, the mediastinum mass failed again to respond to radiotherapy, and the tumor volume even grew thereafter. In our hospital, physical examination revealed a thin-built man with normal vital signs and weight loss. Superior vena cava syndrome (SVCs), such as facial edema and jugular vein distention, was not observed. Respiratory, cardiac, abdominal, testicular, and lymph node examinations were negative.\nContrast-enhanced CT showed a large (approximately 21.6 x 12.3 x 105 cm3) solid mass with heterogeneous enhancement that was not calcified in the anterior mediastinum. The heart and great vessels, including the superior vena cava (SVC), ascending aorta, pulmonary artery, and left principal bronchus, were compressed and surrounded by tumors with well-defined margins, while mediastinal lymph nodes were not noted (Figure 1). Brain MRI, abdominal contrast-enhanced CT, bone scan, and pulmonary function test were normal.\nLaboratory investigations showed thrombocytopenia (platelets = 21 x 109/L, normal = 100-300 x 109/L), anemia (hemoglobin [Hb] = 92 g/L, normal range = 130-175 g/L), and a normal leukocyte count. Lactate dehydrogenase (LDH), alpha fetoprotein (AFP), beta-human chorionic gonadotropin (beta-HCG), and carcinoembryonic antigen (CEA) were elevated (AFP > 1210 ng/mL, normal < 8 ng/mL; beta-HCG = 270.48 mIU/mL, normal < 3.81 mIU/mL; CEA = 3.71 ng/mL, normal < 3.4 ng/mL). After chemotherapy and radiotherapy, the level of AFP decreased to 69.56 ng/mL, and beta-HCG decreased to normal (beta-HCG = 0.26 mIU/mL). Other laboratory examinations, including renal, hepatic, and coagulation function, were within acceptable limits. Therefore, the patient underwent surgical resection of the tumor after informed consent was obtained from the patient.\nA giant solid mass with an intact capsule was observed macroscopically. In the mass, most of the components were solid with local necrosis and multiple cysts. Two mediastinal lymph nodes were observed with a diameter of approximately 0.8-0.9 cm. At the same time, a piece of pericardium attached to the tumor with a size of approximately 3.6 cm x 2.2 cm was also observed. Microscopically, the tumor consisted of epithelial tissue, cartilage tissue, skeletal muscle tissue, and other mesenchymal tissue, some of which presented with immature or malignant morphology (Figure 2). Immunohistochemical staining demonstrated that cytokeratin (CK), epithelial membrane antigen (EMA), smooth muscle actin (SMA), desmin (Des), MyoD 1, and myogenin were positive, while AFP and HCG were negative, indicating that the large mass was an immature teratoma with poorly differentiated squamous cell carcinoma and sarcoma malignant transformation.",
"gender": "Male"
}
] |
PMC10753629
|
[
{
"age": 38,
"case_id": "PMC11088823_01",
"case_text": "A 38-year-old female patient presented with body weakness for five days, initially appearing in the upper extremities and progressing to the lower extremities. The body weakness was associated with easy fatigability, excessive salivation, drooling of saliva, and an inability to hold oral secretion. The patient reported shortness of breath for two days. She has had a recent history of upper respiratory tract infection and was treated in a hospital one week before the current symptom onset. The rest of the review of systems was unremarkable, and he has no known chronic illness. On physical examination, arrival vital signs were as follows: pulse rate of 136 beats per minute, body temperature of 36.8 C, respiratory rate (RR) of 36 breaths per minute, blood pressure of 138/80 mmHg, and oxygen saturation of 87% on 15 liters per minute oxygen with face mask. She had crepitation on the right distal 1/3 anterior chest, and dullness was appreciated during percussion. Her Glasgow coma scale (GCS) was 14/15: Eye-opening 4, Verbal 4, Motor 6, pupil reactive and mid-size bilaterally, power 1/5 bilaterally upper extremities, 2/5 bilaterally lower extremities, Tone hypotonic in all extremities, Reflex, plantar reflex down going, Sensory intact.\nThe patient was intubated due to respiratory failure and for airway protection. The cerebrospinal fluid (CSF) test showed cytoalbuminologic dissociation, suggesting GBS. POCUS of the diaphragm showed no periodic and rhythmic movement (Figure 1A) compared to a wavy white line reflecting the normal rhythmic movement of the diaphragm (Figure 1D).",
"gender": "Female"
},
{
"age": 17,
"case_id": "PMC11088823_02",
"case_text": "A 17-year-old male patient presented with difficulty swallowing for four days. The difficulty swallowing was initially for solids, then progressed to liquid. The patient also reported easy fatigability and a failure to communicate. The patient's symptoms progressed over time, and he developed a descending type of generalized body weakness, which started from the upper extremities and shoulder and then included the lower extremities. The patient had difficulties standing and walking by himself. He also developed excessive salivation, drooling of saliva, an inability to hold oral secretion, and shortness of breath. The rest of the review off systems was unremarkable, and he has no known chronic illness.\nOn physical examination, his pulse rate was 140 beats per minute, his body temperature was 36.8 C, his RR was 36 breaths per minute, his blood pressure was 138/80 mmHg, and his oxygen saturation was 85% at 15 liters per minute oxygen with a face mask.\nThe workup showed reduced amplitude of the left median and right peroneal motor nerves and index motor dominant demyelinating polyradiculoneuropathy likely (AIDP) on the electromyogram (EMG). The PoCUS of the diaphragm showed no periodic or rhythmic movement (Figure 1B) compared to a wavy white line reflecting the normal rhythmic movement of the diaphragm (Figure 1D) (Supplementary Video).\nThe patient was admitted to the ICU and required 64 days of mechanical ventilation. He'd tried and failed several times to wean himself.",
"gender": "Male"
},
{
"age": 29,
"case_id": "PMC11088823_03",
"case_text": "This is a 29-year-old male patient who presented after experiencing body weakness lasting one day, initially in the upper extremities, then progressed to the lower extremities. Associated with easy fatigability and pain in all her extremities were also reported. After admission to the hospital, he developed excessive salivation and drooling of saliva, was unable to hold oral secretions, and had shortness of breath. The patient has had a history of diarrhea and was treated at a private hospital one week before the symptom's onset. He had no history of chronic illness. On physical examination, his pulse rate was 68 beats per minute; he had a sinus rhythm, a body temperature of had a sinus rhythm, a body temperature of 36.8 C, an 134/88 mmHg, and an oxygen saturation of 98% in the atmospheric air. The chest was clear. His GCS was15/15: Eye opening 4 verbal 5 motor 6; pupil reactive and mid-size bilaterally; power 2/5 bilaterally upper extremities; 1/5 bilaterally lower extreme; Tone hypotonic in all extremities, Reflex, plantar reflex down going, Sensory intact. The patient was taken to a resuscitation area in the ED, then followed. Still, on the next day, the patient was deteriorating, developed a change of mention, worsened shortness of breath, tachypneic (40), and tachycardic (140), indicating 85%. Airway management started with endotracheal intubation and mechanical ventilation. The patient was transitioned to an intensive care unit (ICU) with an assessment of Type 2 respiratory failure secondary to diaphragmatic paralysis, likely from GBS. Basic routine laboratory examinations for this patient were unremarkable. POCUS showed a flat line reflecting the paralysis of the diaphragm (Figure 1C) compared to a wavy white line reflecting the normal rhythmic movement of the diaphragm (Figure 1D).",
"gender": "Male"
}
] |
PMC11088823
|
[
{
"age": 67,
"case_id": "PMC10899093_01",
"case_text": "A 67-year-old male presented to the office with bilateral lower extremity neurogenic claudication. He had a history of two prior uncomplicated lumbar posterior decompressions and fusions, one in 1991 and a second in 1999. He did well until two years prior to presentation when his ambulatory capacity began progressively declining. Symptoms persisted despite conservative care.\nOn physical examination, he was neurologically intact with a healed midline posterior incision over his lumbosacral spine. Radiographs revealed a previous L4-S1 posterolateral fusion with Luque instrumentation and mobile Grade 1 degenerative L3-4 anterolisthesis (Figure 1). A lumbar spine MRI as well as a myelogram with subsequent CT were performed (Figure 2). These confirmed successful L4-S1 fusions, revealed L3-4 spondylosis and associated severe canal stenosis, and demonstrated no other notable sites of stenosis throughout. The risks and benefits of surgical intervention were fully discussed with the patient, and the patient consented to surgical treatment. The decision was made to proceed with L3-4 decompression and fusion.\nOperative details\nSurgery began with L3-4 lateral lumbar interbody fusion, which proceeded uneventfully via a standard left-sided approach in the lateral decubitus position. An expandable cage packed with recombinant human bone morphogenetic protein-2 was deployed. This incision was closed, and the patient was repositioned prone on a Jackson frame.\nFluoroscopy was used to guide the placement of 3 cm bilateral Wiltse incisions for access to the L3 pedicles and the rostral aspect of the prior construct. Starting on the left, sequential dilators were advanced onto the previously placed L4 pedicle screw, followed by a tubular retractor, which was then secured to the operating table. The left L4 pedicle screw head was exposed (Figure 3A). A 7 mm female hexagonal driver from a universal hardware removal set was found to fit snugly over the screw head and used to remove this pedicle screw (Figure 3B).\nThe original plan was to then cut the plate with a carbide metal-cutting drill bit above the L5 pedicle screws through the tubular retractor, remove the rostral plate fragment, and then perform segmental L3-4 instrumented posterolateral fusion. However, the Luque plate was found to be encased within a considerable posterolateral fusion mass. There was concern that the amount of bone removal required to access and cut the plate might compromise the integrity of the L4-5 fusion, necessitating more extensive surgery than segmental L3-4 posterior instrumentation. This plan was therefore aborted. Consideration was given to the extension of the Wiltse incisions for additional plate exposure and possible complete posterior implant removal, but a less invasive technique was preferred. Instead, a flexible guidewire was placed down the prior left L4 pedicle tract, the tubular retractor was removed, and the identical process was performed on the right side.\nThe bilateral L3 pedicles were then cannulated via the Wiltse incisions using a Jamshidi and fluoroscopy. Flexible guidewires were placed, and attention was turned to the decompression. A 2 cm portion of the prior midline incision was opened overlying the L3-4 level. A right L3-4 unilateral hemilaminotomy for bilateral decompression was performed through a tubular retractor using a standard technique. The retractor was then redirected more laterally over the right L3-4 facet joint, which was thoroughly decorticated using a burr. Local bone was packed into the joint to promote posterolateral fusion. The retractor was removed.\nCannulated, minimally invasive pedicle screws (Creo MIS, Globus Medical, Inc., Audubon, PA) were then placed over the guidewires. At the L4 level, 6.5-mm-diameter screws were found to pass through the prior Luque plates and provide excellent purchase in the underlying bone. The L3 screws were intentionally left slightly proud so as to align with the L4 screws, which could not be advanced further given the presence of the plates. Screw lengths were upsized slightly (50 mm length at both L3 and L4) to accommodate this. Rods were passed, final tightening performed, screw tabs were removed, and wounds were irrigated and closed (Figure 3C-3D). Final fluoroscopy shots demonstrated the completed construct (Figure 4A-4B). The estimated blood loss was 50 mL.\nPost-operative course\nThe post-operative course was uncomplicated. The patient was discharged home after one night in the hospital (<24-hour length of stay). He experienced complete resolution of his neurogenic claudication and was off all pain medications within three weeks. He continued to do well at the most recent follow-up (one year out from surgery) with neither significant pain nor functional limitation. Post-operative radiographs revealed maintained implant placement without evidence of loosening, migration, subsidence, or failure (Figure 4C-4D).",
"gender": "Male"
}
] |
PMC10899093
|
[
{
"age": 69,
"case_id": "PMC11392844_01",
"case_text": "A 69-year-old Chinese female was diagnosed with left lung adenocarcinoma and diabetes. For her diabetes, she was taking oral sustained-release metformin tablets (1.5 g once daily) and acarbose tablets (50 mg thrice daily). For the lung adenocarcinoma, she received treatment with icotinib. She was not known to have any drug or food allergies. 4 days after receiving icotinib, she experienced a diffuse, erythematous, pustular rash over her entire body without mucosal involvement (Figure 1A) and a temperature of 38.9 C. Laboratory assay results revealed normal white blood cell counts (8.4 x 103/microL with 72.8% neutrophils and 0.03% eosinophils), elevated acute-phase reactants (CRP 14.4 mg/dL, fibrinogen 5.19 g/L), and normal hepatic and renal functions. In light of her medication history and manifestation of lesions, AGEP was diagnosed. Icotinib was immediately discontinued and 40 mg of methyl-prednisolone was administered intravenously, with this dose subsequently reduced to 28 mg/d after 5 days. Following this methyl-prednisolone treatment, there was a lightening of the erythema, resolution of the pustules and widespread superficial desquamation was observed (Figure 1B). Within 2 weeks, the skin lesions had completely disappeared and the methyl-prednisone was gradually discontinued. Thereafter, the patient continued to take icotinib, experiencing only a few pustules, and was treated with halometasone/triclosan cream. 6 months later, due to the progression of the lung cancer, the patient was switched to osimertinib as the antineoplastic drug. 1 year later, the tumor had metastasized to the liver and bones. The patient underwent chemotherapy with pemetrexed and carboplatin, and was subsequently lost to follow-up 1 month after the treatment.",
"gender": "Female"
}
] |
PMC11392844
|
[
{
"age": 47,
"case_id": "PMC10461443_01",
"case_text": "A 47-year-old man with a history of HBV-related cirrhosis received entecavir antiviral therapy for 1 year and discontinued it for 2 years. He discontinued entecavir due to the unavailability of drugs during the prevalence of novel coronary pneumonia and poor adherence. He had no known history of other diseases such as hypertension, diabetes, habitual alcohol use, or blood transfusion. On December 14, 2022, he visited a local hospital reporting discomfort in the right upper abdomen, and enhanced magnetic resonance imaging examination indicated a tumor in the right hepatic lobe accompanied by lymph node metastases in the retroperitoneum. At the same time, tenofovir alafenamide (TAF) was given.\nThe patient was transferred to our hospital on December 26, 2022. Routine blood and liver function test results were shown in Table 1. Assay testing for HBV infection was positive for HBsAg, hepatitis B e antigen (HBeAg), and hepatitis B core antibody (HBcAb)and negative for hepatitis B surface antibody (HBsAb), hepatitis B e antibody (HBeAb), and HBV DNA (4.19 x 104 IU/mL). Liver tests were negative for other hepatitis viruses (such as hepatitis C virus [HCV]), autoimmune liver diseases, and metabolic liver diseases such as hepatolenticular degeneration and hemochromatosis. The patient's alpha-fetoprotein (AFP) level was normal. Contrast-enhanced ultrasound (CEUS) was also performed (Figures 1A,B). According to the AASLD treatment guidelines, the patient was diagnosed as hepatocellular carcinoma with lymph node metastases in the retroperitoneum. He was staged at Barcelona Clinic Liver Cancer C, Child-Pugh grade A, and an Eastern Cooperative Oncology Group Performance Score 0. Our patient with liver-dominant disease and with limited lymph node metastases, transarterial chemoembolization (TACE) was performed according to the ISMIO treatment guidelines (Figures 1C,D). After TACE, the patient's liver function was not impaired and camrelizumab was administered (200 mg intravenous drip).\nThree weeks later (January 18, 2023), the patient underwent liver function tests and then re-administered camrelizumab immediately. His liver function tests (Table 1) suggested the presence of grade 4 ILICI. The Roussel Uclaf Causality Assessment Method (RUCAM) was calculated to be +7.\nOn January 26, 2023, the patient was readmitted to our hospital with a 1-week history of yellowing of the skin and sclera. He also experienced severe weakness, loss of appetite, abdominal distention, and pain in the left lumbar region. A physical examination revealed severe jaundice, positive liver palm and spider nevus; no obvious abnormal findings during cardiopulmonary auscultation; a soft abdomen; pain at the left upper ureteral pressure point; percussion pain in the renal area; no significant enlargement of the liver or spleen on palpation; negative mobility dullness; and no edema of either leg. Routine blood and liver function test results were shown in Table 1. Serological tests for hepatitis A virus, hepatitis E virus, human immunodeficiency virus, cytomegalovirus, Epstein-Barr virus were negative. The patient's autoantibodies were normal. HBV testing was negative for HBsAg but positive for HBsAb. Simultaneously, we analyzed lymphocyte subgroups in the peripheral blood using flow cytometry and found that the proportions of helper T cells and cytotoxic T cells were significantly reduced, whereas that of B lymphocytes was increased. Contrast-enhanced computed tomography of the abdomen, which excluded biliary obstruction and disease progression of the intrahepatic lesions (Figure 2), suggested the presence of a stone in the upper left ureter with dilatation of the upper ureter. This may have been related to the patient's left lumbar pain. Because the patient's liver function tests suggested hepatocellular damage and stasis of bile, carrilizum was stopped immediately, intravenous magnesium isoglycyrrhizinate 200 mg once a day, oral ursodeoxycholic acid (UDCA) 250 mg three times a day were given. In addition, he had a ureteral stone and urinary tract infection, so we gave him intravenous ertapenem 1 g once a day to fight the infection and performed transurethral stenting to relieve the urethral obstruction.\nOver the next 5 days, the patient's condition deteriorated rapidly and progressed to ACLF, with new-onset of encephalopathy, acute kidney injury, and acidosis. Methylprednisolone (80 mg/day) was added and plasma dialysis (PDF) was performed four times. The patient's liver function improved and he felt relief from the abdominal distension and weakness (Figures 3A-C). However, the patient refused to remain hospitalized.\nOn February 10, 2023, the patient was admitted to the intensive care unit with severe infection, ACLF, renal failure, and lactic acidosis (Table 1). At last, the patient's Chronic Liver Failure Consortium (CLIF-C) ACLF score was calculated to be 71, and the model for the end-stage liver disease (MELD) score was 48, indicating an unfavorable outcome (Figure 3D). Ascitic fluid tests suggested ascites infection. Despite aggressive treatment, the patient's condition continued to deteriorate and he eventually died. The causes of death included hepatic failure, renal failure, and infectious shock.",
"gender": "Male"
}
] |
PMC10461443
|
[
{
"age": 48,
"case_id": "PMC10996350_01",
"case_text": "A 48-year-old male with a medical history of HIV disease, hyperlipidemia, and hypertension presented to the infectious disease clinic complaining of progressively worsening hoarseness for approximately 2 months. The patient initially attributed the change in voice to the SARS-COV-2 viral infection he had the year prior, but became worried when the hoarseness worsened. Hoarseness was associated with sharp stabbing pain in the right submandibular and peritonsillar areas. The pain was constant, rated 8/10 at its peak, but nonradiating. The patient also reported odynophagia, but denied nausea, vomiting, globus sensation, choking, excessive secretions, nocturnal dyspnea, fever, recent upper respiratory infection, or tobacco use. The patient was compliant with his HIV medication and had an absolute CD4 count of 633/mcL and an undetectable viral load. On physical examination, there was no pooling of secretions, pharyngeal erythema, masses, or palpable lymphadenopathy. The remainder of the physical examination was unremarkable and the vital signs were within normal ranges.\nDue to concern for a head and neck tumor, the patient was subsequently referred to an Ear, Nose, and Throat (ENT) specialist for further evaluation. An indirect laryngoscopy was performed, which demonstrated normal vocal cord movement with no masses or tumors. The patient was started on 20 mg of omeprazole daily, with some lifestyle changes. One month later, he returned to the ENT clinic with no improvement in hoarseness or throat pain. Bloodwork, including a complete metabolic panel, complete blood count, hepatitis panel, uric acid, and lactate dehydrogenase, was unremarkable. A maxillofacial computed tomography (CT) scan with contrast showed no abnormalities. The omeprazole dose was increased to 40 mg daily, and the patient was referred to a gastroenterology clinic for further evaluation.\nEsophagogastroduodenoscopy (EGD) with biopsy revealed mild bulbo-duodenitis and moderate antral gastritis. The pathology was positive for Helicobacter pylori bacteria, but there was no evidence of intestinal metaplasia or dysplasia. A colonoscopy was also performed, which revealed a single, small-mouthed diverticulum in the ascending colon. The patient completed a triple therapy regimen for H. pylori infection, but the hoarseness and throat pain persisted. The ENT surgeon re-evaluated the patient with a flexible fiber-optic laryngoscopy, which showed possible ulceration of the left vocal cord. Direct laryngoscopy was then scheduled, later revealing a pedunculated, circular cyst-like lesion in the right pharyngeal wall within the supraglottic space (Images unavailable). Another benign-appearing lesion was observed at the level of the glottis. Both lesions were biopsied, and the specimens were sent for histopathological analysis.\nSurgical pathology of the right lateral pharyngeal wall lesion revealed a plasmacytic neoplasm favoring an EMP (Figure 1). On immunostaining, the tumor cells were positive for CD 138, MUM-1, CD 79a, and CD117 (Figure 2). The plasma cells were negative for CD20, PAX5, CD30, and EBER-ISH. On in situ hybridization, the plasma cells were monotypic for immunoglobulin (IgA) light chains kappa and negative for lambda (Figure 2). The pathology of the right vocal cord lesion revealed squamous mucosa with mostly reactive plasmatic infiltrates. Based on these findings, the right lateral pharyngeal wall tumor was diagnosed as plasmacytoma of pharyngeal tissue.\nThe oncology service evaluated the patient, and further workup was obtained. A positron emission tomography (PET) scan of the skull base to the mid-thigh revealed a small focal hypermetabolic malignant lesion in the right vocal cord of the larynx. There was no evidence of metastasis. Bone marrow biopsy showed 1% plasma cells with excess IgA. The plasma cells expressed CD38 bright, CD138, and showed a polytypic distribution of cytoplasmic kappa and lambda light chains. The cytogenetic results were normal. Serum and urine electrophoresis, and serum immunoelectrophoresis were unremarkable. The kappa/lambda ratio was 1.11, which is insufficient for the multiple myeloma criteria. The urine immunofixation showed no evidence for monoclonal protein or a polyclonal immunoglobulin pattern. The patient completed 28 sessions of 45-50 Gy radiation therapy for a plasmacytoma involving the right lateral pharyngeal wall in the supraglottic region. His throat pain and appetite have improved; however, he continues to experience hoarseness. The patient gets a repeat multiple myeloma workup at designated intervals and is pending a repeat direct laryngoscopy with a biopsy of the right vocal cord lesion.",
"gender": "Male"
}
] |
PMC10996350
|
[
{
"age": 27,
"case_id": "PMC11001175_01",
"case_text": "This 27-year-old female presented with abnormal movements in her head, neck, and left upper limb (UL) for 3 months. It started insidiously in her head which progressed to the neck over a week. Ten days later, noticed a similar movement in her left UL. The movements were involuntary, nonsuppressible, rapid, to-and-fro, and rhythmic which disappeared during sleep. There was no aggravating factor, sensory trick, or specific timing of the appearance of movement, but it affected her daily activities. She has been suffering from epilepsy since 2 years of age when she had a fever, altered consciousness, and generalized tonic-clonic seizures (GTCS). She was diagnosed with encephalitis but she was partially treated.\nSince then, she witnessed frequent episodes of GTCS lasting for 2-3 min. The frequency increased from one in 2-3 months initially to two attacks monthly for the last 4 months. She has been on regular ASM for the last 3 years (valproate 750 mg twice daily, oxcarbazepine 450 mg twice daily, and levetiracetam 500 mg twice daily). Recently, over 3 months, she has become more agitated, with episodes of abnormal laughter and irrelevant talking. There is no history of weakness, paresthesia, headache, difficulty in micturition, abnormal birth history, developmental delay, or head injury.\nHer general examination was unremarkable. A nervous system examination showed a Glasgow Coma Scale of E4V4M6 and normal cranial nerves. Motor examination showed normal bulk, cogwheel rigidity (left UL > right UL), generalized hyperreflexia, and extensor plantar response. There was evidence of high-frequency resting tremors in both thumbs (left > right) at the flexion-extension plane, postural fine tremors of the left > right hand and fingers at the metacarpophalangeal and wrist joints with flexed posture of left UL, and yes-yes type head tremor without intentional component [Video 1]. The rest of the examination, including other systems, was normal.\nHer neuropsychiatric assessment showed severe deficits in attention and concentration, memory, executive functioning, and visio-motor and visio-spatial integration, along with mild-moderate deficits in phonemic fluency, working memory, verbal intelligence, and comprehension. Her blood investigations showed normal hemogram, renal, liver, and thyroid functions, and electrolytes with elevated ammonia levels (120 ug/dL). Her serum valproate level (75 mug/mL) was elevated. Her brain magnetic resonance imaging showed focal right-sided temporoparietal atrophy with nonenhancing T2/FLAIR white matter asymmetric hyperintensities [Figure 1]. The electroencephalogram showed focal areas of slowing. She was diagnosed with RE and intravenous immunoglobulin (IVIg) was started. Valproate was stopped, and she was put on additional lacosamide (100 mg) and propranolol (20 mg) twice daily. Her tremors improved over 1 month and she was able to do her daily activities. At 3-month follow-up, after three cycles of IVIg, she had a significant decrease in seizure frequency and a better quality of daily life index.\nRE is a chronic inflammatory neurodegenerative disease of the cerebral hemisphere mainly affecting children. It leads to refractory epilepsy and progressive neurocognitive deficits. The index case of RE was presented by renowned neurosurgeon Dr. Theodore Rasmussen et al. in 1858 at the Montreal Neurological Institute. The exact etiology of RE is unknown, but cytotoxic T-cell reaction against cerebral neurons has been proposed. Imaging studies help toward monitoring the disease progression and excluding important differentials, including Dyke-Davidoff-Masson syndrome, Sturge-Weber syndrome, uni-hemispheric cerebral vasculitis, hemi-megalencephaly, intracranial space-occupying lesions, and head injury.\nThe early initiation of immunotherapy in RE has been shown to alter the natural course and improve the outcome. Immunotherapy with IVIg, tacrolimus, rituximab, high-dose steroids, natalizumab, azathioprine, and surgical excision form the therapeutic armamentarium. Intractable epilepsy is an important component of RE, and polytherapy of ASM is being widely used. However, it leads to a multitude of adverse drug effects, of which tremors are an important neurological phenomenon. Valproate-induced tremor is a dose-related phenomenon appearing as a high-frequency, low-amplitude tremor resembling adrenergic and essential tremor. The incidence of tremors in valproate therapy approximates 5%-57% with mean blood levels ranging 71-123 mug/mL. Approximately 25% of patients on valproate therapy can develop tremors within 3 months to 1 year on initiation. Central GABAergic dysfunction is involved in its genesis, and drugs such as propranolol, amantadine, diphenhydramine, benztropine, and cyproheptadine which are capable of enhancing the GABAergic neurotransmission are effective in the treatment. In a study by Alonso-Juarez et al., a significantly high rate of valproate-induced tremor is observed in females, ULs, postural type, and higher dose. Valproate-induced tremor is partially reversible with discontinuation of valproate acid. However, the use of valproate in young females of reproductive age group should be judiciously advocated.\nThe authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published, and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.",
"gender": "Female"
}
] |
PMC11001175
|
[
{
"age": 44,
"case_id": "PMC11056642_01",
"case_text": "A 44-year-old previously healthy gentleman was referred to the pulmonary clinic from the ENT clinic due to hoarseness of voice secondary to vocal cord palsy and abnormal chest X-ray. He had been complaining of hoarseness of voice for 8 months and minimal dry cough for 2 months. He denied shortness of breath, fever, weight loss, or night sweats. Physical examination revealed decreased breath sounds in the left upper lung field. Routine blood investigations were within normal limits.\nThe chest X-ray revealed left-sided homogenous opacity, which required a contrast-enhanced computed tomography (CT) scan of the chest and abdomen. This revealed a large mass in the left upper lobe encasing the left hilar structures, with multiple bilateral nodules along with enlarged mediastinal lymph nodes and multiple lesions in the liver concerning for metastatic malignancy (Figures 1 and 2a).\nBased on the clinical presentation and the radiological findings, the initial suspicion was lung cancer with metastasis to the liver. However, a CT-guided biopsy of the lung followed by liver lesion showed necrotizing granulomatous inflammation and positive TB PCR, confirming the diagnosis of TB (Figure 3). He was started on anti-tuberculous therapy and the follow-up showed improvement clinically and radiologically (Figure 2b).",
"gender": "Male"
}
] |
PMC11056642
|
[
{
"age": 29,
"case_id": "PMC11084989_01",
"case_text": "We present a 29-year-old male patient who was diagnosed with pulmonary TB by microscopy with sputum smear and positive culture. For the past 2 months, he has been consistently receiving sensitive treatment with isoniazid (INH), rifampicin (RIF), ethambutol (EMB), and pyrazinamide (PZA). In addition, he has only experienced occasional symptoms of a dry cough. The patient did not report any other significant medical history.\nHe was admitted to the emergency room with an illness time of 18 h characterized by sudden dyspnea (mMRC 4 scale), pain in both hemithorax in the scapular and external infrascapular region associated with diaphoresis, and a demanding cough. Blood pressure: 140/91 mm Hg, tachycardia (132 beats/min) and tachypnea (32 beats/min), Sato2: 85% (Fio2: 21%) were recorded. On preferential physical examination, chest and lungs: signs of poor chest expansion with intercostal indrawing's were noted. Tympany noted on chest percussion with decreased vocal vibrations. On auscultation, vesicular sounds were abolished in both lung bases. Cardiovascular: very low intensity rhythmic heart sounds, mild jugular vein engorgement, adequate peripheral pulse. In complementary tests: hemoglobin: 13.1 mm3; leukocytes: 12 115 mm3; platelets: 630,600 mm3. Arterial blood gas analysis: pH: 7.38, Pco2: 29.7 mm Hg, PO2: 49 mm Hg, PO2/Fio2: 233 mm Hg. Negative serology and autoimmune profile. In imaging, chest x-ray shows bilateral tension pneumothorax with flattening of both diaphragmatic domes, reticular radiopacities, and mediastinal compression with a cardiac diameter of 11.1 and cardiothoracic index of 0.31 (Figure 1). The chest computed tomography (CT) scan demonstrates significant bilateral pneumothorax, with partial collapse of both lungs. This condition is attributed to pleural adhesions extending from the visceral pleura to the parietal pleura, preventing total lung collapse (Figure 2A). In the lung parenchyma, thin-walled cavitary lesions are located in the subpleural region of both upper lobes, suggestive of bullous disease (black arrows). Additionally, bronchiectasis, areas of consolidation, and zones of ground-glass opacity with a chronic appearance are observed (Figure 2B). In the lower lobes, there is evidence of passive atelectasis and a minimal left pleural effusion (Figure 2C). Due to a borderline ventilatory pattern with failure to oxygen therapy, a 26 Fr chest tube was placed in both hemithorax's.\nThe patient demonstrates a favorable clinical progression with partial expansion of both lungs. However, on the tenth day of hospitalization, complications arose in the form of a third-degree bronchopleural fistula (according to the Cerfolio classification) and bilateral hydropneumothorax (Figure 3). The patient is maintained with chest drainage tubes and a negative pressure system at 20 cm due to persistent recurrent collapse. A pleural fluid study was performed with negative results for empyema or TB. (ADA: 16 mg/dL). On the 30th day of hospitalization, a trapped lung was noted with resolution of the fistula (at 25 days) of the left hemithorax with removal of the chest tube. A Heimlich valve was placed in the right hemithorax (Figure 4). Due to improvement of symptoms and normalization of laboratory tests, the patient was discharged, and TB treatment was continued on an outpatient basis.",
"gender": "Male"
}
] |
PMC11084989
|
[
{
"age": 66,
"case_id": "PMC11358739_01",
"case_text": "A 66-year-old woman with a 27-year history of hemodialysis for glomerulonephritis was referred to our hospital with complaints of pain, edema, and rash on the left lower leg that had been present for 1 week. She had noticed pain in her left ankle one week before referral and had experienced edema and erythema on the dorsum of the left foot three days before referral. Pain, edema, and erythema had spread to the entire left lower leg; therefore, she was referred to our hospital because of suspected cellulitis in her lower leg. She had no history of diarrhea prior to referral to our hospital.\nThe patient had a history of end-stage kidney disease requiring hemodialysis, liver cirrhosis (of unknown etiology), primary hyperparathyroidism, acute pancreatitis, chronic hypothyroidism, a right artificial knee joint, and left hip joint replacement. Her medications included calcium polystyrene sulfonate 5,000 mg/day, lanthanum carbonate hydrate 1,500 mg/day, sevelamer hydrochloride 1,500 mg/day, levothyroxine sodium hydrate 50 mug/day, fudosteine (600 mg/day), and rabeprazole sodium (10 mg/day). She also had a history of allergy to maxacalcitol, rifaximin, lubiprostone, polaprezinc, and magnesium oxide.\nThe patient was conscious on admission. The patient's height and weight were 148 cm and 75 kg, respectively. A physical examination revealed a blood pressure of 60/40 mmHg, respiratory rate of 24 breaths per minute, heart rate of 101 beats per minute, body temperature of 38.3 C, and oxygen saturation of 95% in room air. The patient had cyanosis in her extremities. She had no abnormal respiratory or heart sounds, cardiac murmur, or abdominal tenderness. The entire left leg was tender, edematous, and red from the toes to the groin. No conjunctival hemorrhaging, Osler's nodes, or Janeway lesions were observed. The patient had an arteriovenous shunt on the left forearm.\nThe laboratory data showed the following (Table 1): white blood cell count, 6,900 /muL (neutrophils 52.7%, lymphocytes 5.7%, and eosinophils 38.5%); hemoglobin, 13.9 g/dL; platelet count, 108,000 /muL; sodium, 135.7 mmol/L; potassium, 3.95 mmol/L; chloride, 99.5 mmol/L; creatinine, 5.18 mg/dL; blood urea nitrogen, 24.0 mg/dL; albumin, 2.51 g/dL; corrected calcium, 9.68 mg/dL; C-reactive protein, 9.13 mg/L; serum glucose, 277 mg/dL; total bilirubin, 0.56 mg/dL; aspartate aminotransferase, 18 IU/L, and alanine aminotransferase, 10 IU/L. Her clotting profile revealed a prothrombin time of 17.9 seconds, prothrombin time-international normalized ratio (PT-INR) of 1.40, activated partial thromboplastin time of 32.7 seconds, and D-dimer level of 8.76 mug/mL. A venous blood gas analysis revealed the following: pH, 7.270; PaCO2, 54.1 Torr; PaO2, 21.4 Torr; HCO3-, 20.2 mEq/L; lactate, 4.3 mmol/L, and base excess, -3.2 mmol/L.\nElectrocardiography revealed sinus rhythm, low voltage, and left-axis deviation, with no obvious ST-T changes. Echocardiography revealed a normal left ventricular wall motion and chamber size without asynergy or vegetation. Computed tomography of the chest and legs revealed subcutaneous edema in the left lower leg. No signs of pulmonary embolism or deep vein thrombosis were observed.\nThe patient was diagnosed with septic shock and severe cellulitis. After admission, empirical antibiotic treatment with ampicillin/sulbactam was initiated for cellulitis, and catecholamines and hydrocortisone were administered to treat septic shock.\nOn day 3 of hospitalization, erythema on the left lower leg expanded to the trunk, SDSE was isolated from blood culture, the patient's serum creatinine kinase level increased to 530 U/L, and her platelet count dropped below 100,000 /muL. Streptococcal bacteremia, hypotension, renal impairment, and erythematous rash on the trunk met the diagnostic criteria for STSS caused by Group A Streptococcus. The antibiotic was switched to vancomycin because of suspected allergy to ampicillin/sulbactam, and clindamycin was added after SDSE was isolated from the initial blood cultures to prevent inhibition of protein synthesis. A 1-g loading dose of vancomycin was administered intravenously, followed by an additional 500 mg after dialysis.\nOn day 5 of admission, transthoracic echocardiography showed no obvious heart valve vegetation or a decrease in left ventricular wall movement. The patient's left leg deteriorated, and a black lesion was found on the side of her left lower leg, suggestive of necrotizing fasciitis; however, no necrotic lesion was observed after the incision.\nOn day 7 of admission, the patient developed ventricular fibrillation and suddenly died. A pathological autopsy was performed to determine the cause of death at our hospital. The autopsy revealed vegetations of Gram-positive cocci on the mitral valve with diameters of 2 and 5 mm (Figure), and IE was diagnosed. Cultures were not performed because the tissues were formalin-treated. No obvious necrosis or inflammation was observed in the sinuses or the atrioventricular nodes. No metastatic abscesses or embolic lesions were observed in the lungs, liver, kidneys, or other organs. Centrilobular dilation and congestion were observed in the sinusoid of the liver, while congestion was observed in the lungs, adrenal gland, spleen, and colon, indicating heart failure. Hemorrhaging and the emission of ghost-like epithelial cells were observed in the intestinal mucosa, indicative of ischemic colitis. Atheromatous plaques and sclerosis were also observed in the aorta. Necrotizing fasciitis was not observed around the erythematous lesion on the right thigh. The brain was not examined because we did not diagnose SDSE-IE before the autopsy.",
"gender": "Female"
}
] |
PMC11358739
|
[
{
"age": null,
"case_id": "PMC11272897_01",
"case_text": "Simulation-based education was also maximized in the intervention courses. An extensive virtual clinical simulation integrating the phases pre-brief, briefing, case progression (simulation activity), debrief/reflection, and evaluation was implemented in place of hospital rotation. The LMS was used as the platform for the virtual hospital with different \"wards,\" and students were assigned to different patient cases. Case scenarios were progressive. Video recording, audio recording, and photos were curated to simulate interactions with patients, caregivers, and other healthcare team members. Additionally, a mock electronic medical record was designed on a Google site, simulating documents seen in a usual hospital rotation, such as health management records, nurses' notes, and laboratory/diagnostic tests. Since the faculty designed the case progressions, they created scenarios specifically targeting the course outcomes.\nMeanwhile, the use of standard patients (SP) was implemented in the mental health and psychiatric nursing course. This was done as an online simulation. This activity helped the students develop skills in psychiatric assessment, particularly in the mental status examination and psychiatric interview. The online encounter with standardized patients prepared them for the clinical portion of the course wherein actual individual clients were invited to participate in an online mental health promotion program and psychiatric rehabilitation sessions with the students under faculty supervision.\nThe Intensive Nursing Courses provide opportunities for students to assume the role of client-care provider, researcher, and leader-manager, applied in a beginning generalist nurse in the hospital and community. These terminal courses integrate what they have learned from the previous courses to include clients with psychosocial needs requiring critical, emergency, and specialized care. In the program design, the increasing complexity of interventions requires additional skill development and opportunities for real-life application. During the pandemic, these were the courses that were greatly affected by cancellation of face-to-face classes and hospital/ community rotations.\nThe faculty needed to reconceptualize how the major components of the intensive nursing courses could be delivered. Learning outcomes were revisited as the initial curricular activity, consistent with the outcomes-based framework. The revisiting resulted in the identification of outcomes that can be achieved through an online platform. Course outcomes concerning the application of critical thinking for critically ill clients, demonstration of quick and accurate prioritized identification of problems, application of appropriate interventions in a safe, holistic, and compassionate manner, integration of evidence-based practice, and application of bioethical principles were retained.\nThe content was also reviewed to support the achievement of learning outcomes. The re-selection and reorganization of topics were done to focus on what is essential for the achievement of student learning outcomes and which strategies will be appropriate to deliver these. Since these courses required higher levels of complexity, it became more difficult for the faculty to identify teaching strategies where online strategies will be the primary approach. Teaching strategies were redesigned to include careful curation of learning activities, maximizing the features of the LMS. Open education resources in the form of videos, selected journal articles, readings, and checklists were also maximized. Online discussion fora in the LMS facilitated both individual and group learning. Recorded lectures along with slide decks from the faculty can be viewed independently and at the students'own pace. Case studies were also used to help achieve high level of competence. Laboratory sessions were also designed to teach skills in caring for clients with chest tube thoracotomy, intravenous therapy, and providing advanced cardiac life support (ACLS), and pediatric advanced life support (PALS). Though activities are mostly self-directed, the faculty made sure that student learning was well-guided by publishing activity and assignment guides throughout the course implementation, in addition to the general course guide. Synchronous activities through small group discussions were also implemented to answer queries, assist in integrating concepts, and bolster students' achievement of outcomes. The features of the LMS augmented the learning experience since the faculty designed the activities and ensured that students achieved important outcomes before proceeding to the next phases of the course. The LMS also aided the faculty in monitoring the progress of each student and tailoring the guidance needed.\nFor the intensive community health nursing experience, close coordination with the clients through the help of the community organizers from the UP Manila Community Health and Development Program made it possible to meet clients and various stakeholders online. They assisted in setting up several meetings and oriented the partners on how to use the technology. Planning, consultations, and interventions were done using an online video conferencing platform. There were some limitations encountered because of connectivity issues, technological knowledge and skills in using online platforms, added to the fast-changing COVID-19 restrictions. Despite these challenges, interaction with actual clients helped maximize the teaching-learning experience.\nTranslation of evaluation activities to online mode was also imperative. Though the redesigned intensive nursing courses were successful, the faculty recognized in their review that some outcomes such as provision of care, collaboration, and demonstration of effective nurse-client relationship can be best demonstrated with actual client care in the actual setting.\nThroughout all subjects, courses deliberately included additional measures to ensure student welfare. Recognizing that faculty and student home settings and situations are part of the learning experience, the faculty included asynchronous and synchronous wellness checks at certain periods throughout course implementation. These have been important to further tailor student guidance, ensure holistic student support, and motivate the students to continue learning.",
"gender": "Unknown"
}
] |
PMC11272897
|
[
{
"age": 83,
"case_id": "PMC11167077_01",
"case_text": "The role of CCTA for guiding PCI is nicely presented in the article by Su et al. on an 83-year-old man with diabetes mellitus, presenting with non-ST-elevation myocardial infarction. CCTA revealed the presence of a single coronary ostium with origin of the left and right coronary artery from the right sinus of Valsalva. The patient was successfully treated with PCI and implantation of several drug-eluting-coronary stents with a good angiographic result.\nCoronary artery disease and coronary anomalies are largely represented in our case collection. Thus, the role of CCTA in the diagnosis of coronary artery disease is highlighted in the article by Korosoglou et al., where CCTA detected significant lumen narrowing in a patient with symptomatic coronary artery disease, triggering coronary revascularization by PCI. In addition, CCTA demonstrated attenuated progression of non-calcified atherosclerotic plaque during lipid-lowering treatment of the patient with bempedoic acid, which was attributed to substantial low-density-cholesterol reduction.",
"gender": "Male"
},
{
"age": 14,
"case_id": "PMC11167077_02",
"case_text": "Although rare, coronary artery anomalies may have a significant functional and prognostic impact. In this regard, McAlpin et al. reported the case of a 14-year-old boy with a single coronary artery originating from the right coronary sinus. While the suspicion of a coronary anomaly came by transthoracic echocardiography, the final diagnosis required CCTA that also identified the inter-arterial and intramural course of the left coronary artery.",
"gender": "Male"
},
{
"age": 52,
"case_id": "PMC11167077_03",
"case_text": "In the article by Oh et al., myocardial perfusion SPECT imaging provided functional information in a 52-year-old woman who had suffered a myocardial infarction with non-obstructive coronary arteries (MINOCA) due to coronary vasospasm at the level of a myocardial bridge, as demonstrated by intravascular ultrasound and CCTA.",
"gender": "Female"
},
{
"age": 23,
"case_id": "PMC11167077_04",
"case_text": "Cardiac masses and tumors constitute another important field, where multi-modality cardiac imaging is often required to establish the correct diagnosis. The importance of multi-modal imaging in this regard was nicely demonstrated by Li et al. in a very young 23-year-old patient with a primary pericardial sarcoma. Information from CCTA, PET-CT, and CMR, the latter proving detailed visualization of cardiac and extracardiac structures, contributed to timely diagnosis, enabling optimal treatment planning.",
"gender": "Unknown"
},
{
"age": 73,
"case_id": "PMC11167077_05",
"case_text": "Not only is the diagnosis of a cardiac tumor an important domain of cardiac imaging but so too is the differential diagnosis between cardiac tumors and normal anatomical structures of the heart. Thus, in the article by Akiki et al., the authors nicely demonstrated the potential of multi-modality cardiac imaging to establish the diagnosis of left atrial myxoma in a 73-year-old woman presenting with syncope. Echocardiography, CCTA, and CMR were used for pre-operative planning, and 3D printing of the tumor facilitated the use of a robotic approach for surgical removal of the tumor.",
"gender": "Female"
},
{
"age": 69,
"case_id": "PMC11167077_06",
"case_text": "When cardiac masses are concerned, multimodality imaging may be particularly helpful for disease characterization and differential diagnosis. In this regard, the article by Kong et al. reported the case of a 69-year-old man with primary invasive cardiac angiosarcoma causing cardiac tamponade, whereby trans-thoracic echocardiography, chest CT, and magnetic resonance imaging were instrumental for tumor staging and for guiding patient management.",
"gender": "Male"
},
{
"age": 68,
"case_id": "PMC11167077_07",
"case_text": "The role of multimodality imaging for the diagnosis of cardiac masses is also discussed by Yu et al., reporting on the application of advanced echocardiographic techniques and cardiac CT for the precise characterization of suspected lipomatous atrial septal hypertrophy coupled with atrial septal defect (ASD) in a 68-year-old woman.",
"gender": "Female"
},
{
"age": 57,
"case_id": "PMC11167077_08",
"case_text": "In their article, Zhang et al. discussed the case of a 57-year-old woman with obstructive hypertrophic cardiomyopathy treated with \"Echocardiography-guided Percutaneous IntraMyocardial Septal Radiofrequency Ablation\" (PIMSRA, Liwen procedure). In this case, speckle tracking echocardiography was also able to detect the early improvement of regional cardiac function and the recovery of LV contractile synchronicity following treatment.\nThe use of nuclear cardiac imaging techniques for disease characterization is reported in two case reports. In the article by Jiang et al., molecular imaging with PET/CT using a 68Ga-radiollabeled fibroblast activation protein inhibitor (FAPI) was shown to be able to detect the presence of early activated fibroblasts in a patient with unstable angina and monitor disease activity after coronary revascularization.",
"gender": "Female"
},
{
"age": 84,
"case_id": "PMC11167077_09",
"case_text": "The clinical impact of experienced vs. non-experienced operators with echocardiography is nicely demonstrated by Caiati et al. in an 84-year-old woman who was referred to the echocardiographic laboratory for routine examination. The patient had chronic atrial fibrillation and history of heart failure and had been diagnosed with hypertensive heart disease as there was myocardial hypertrophy on the echocardiogram. The experienced view of a senior cardiologist and ultrasound contrast agent administration, however, helped to \"unmask\" the presence of severe apical hypertrophy of the left ventricle, establishing the correct diagnosis of apical hypertrophic cardiomyopathy.",
"gender": "Female"
},
{
"age": 65,
"case_id": "PMC11167077_10",
"case_text": "Finally, the role of multi-modality cardiac imaging using invasive angiography, CCTA, and perfusion mapping of the lungs is nicely demonstrated by Goyal et al. in a 65-year-old man with dyspnea and history of pulmonary embolism 4 years prior to his index clinical presentation. Echocardiography showed RV-dilation with reduced function and CT demonstrated complete occlusion of the right pulmonary artery. Lung perfusion imaging demonstrated some areas of compensated perfusion in the right lung, which originated from coronary collaterals, as demonstrated by invasive coronary angiography. The patient underwent successful pulmonary thromboendarterectomy, which resulted in restoration of lung perfusion and right-ventricular function.\nIn conclusion, recent advances with non-invasive cardiac imaging are clinically relevant for the diagnostic-work up, timely diagnosis, and subsequent therapeutic management of patients with a multitude of cardiac disorders. All cases reported in our collection represent nice examples that demonstrate how cardiac and, if required, multimodality imaging can be incorporated into daily clinical practice to improve patient care and clinical outcomes.",
"gender": "Male"
}
] |
PMC11167077
|
[
{
"age": 42,
"case_id": "PMC11190172_01",
"case_text": "A 42-year-old female with menometrorrhagia secondary to presumed uterine leiomyomas presented for hysterectomy evaluation with her gynecologist. The patient had a Foley catheter placed due to urinary retention and hematuria, for which she underwent cystoscopic examination at an outside facility. A bladder mass was identified and biopsied, revealing a paraganglioma. She was thus referred to our institution for further evaluation of the bladder mass.\nA CT intravenous pyelogram revealed an enhancing 3.7 cm bladder mass centered near the left ureterovesical junction without hydronephrosis ( Figure 1A ), as well as a hyperdense cardiac mass on the atrial septum, incompletely evaluated. A subsequent pelvic and abdominal MRI highlighted a well-defined heterogeneous soft tissue mass in the anterior inferior aspect of the bladder abutting the urethra and vagina, measuring 3.8x3.2x3.0 cm, that demonstrated a mild hyperintense signal on T2-weighted images ( Figure 1B ) as well as an isointense signal on T1-weighted images. This also showed a dominant 7.4 cm intramural leiomyoma in the anterior myometrial wall with a physiologic left ovarian cyst and no other cystic solid adnexal lesions. A transurethral resection of the bladder mass (TURBT) was scheduled.\nIn the meanwhile, based on the initial pathology results, the patient was also referred to endocrinology. Upon further interview at the endocrinology clinic, the patient reported excessive bleeding, both during her period and between her periods (menometrorrhagia), as well as episodes of spotting between menses. Bleeding episodes varied in quantity and quality; it is possible that the hematuria could have been masked by the abundant menometrorrhagia. She also reported fatigue and shortness of breath, which was attributed to severe iron deficiency secondary to abnormal uterine bleeding. Moreover, she complained of mild abdominal pain but denied episodic headaches, sweating, tremors, palpitations, anxiety, fevers, dysuria, or recreational drug use. The patient had no other past medical history or concomitant medication except for multivitamin supplements. Her family history was significant for stroke in her grandparents and father. There was no known family history of endocrine tumors.\nInitial blood pressure and heart rate were 110/80 mmHg and 70-80 beats per minute respectively. However, ambulatory blood pressure monitoring revealed occasional values of 160/90 mmHg. At night, her blood pressures did not decrease. Of note, blood pressures were not monitored post-micturition. The physical exam revealed normal heart rate and rhythm with no murmur, rub, or gallop.\nFurther workup showed a slightly elevated plasma metanephrine level of 74 pg/mL (normal <57 pg/mL) with normal plasma normetanephrine and serum chromogranin levels. In her 24-hour urine studies, the levels of dopamine (564 mcg/24h; normal 52-480 mcg/24h) and metanephrine (305 mcg/24h; normal 58- 203 mcg/24h) were slightly elevated, while the normetanephrine level was normal.\nThere were no signs of pheochromocytoma or abdominal paragangliomas on abdominal MRI. To further evaluate synchronous paraganglioma, 68Ga-DOTATATE-PET/CT scan was performed before surgery and showed no evidence of metastatic disease, and no uptake of the hyperdense cardiac mass. Unfortunately, bladder visualization was limited due to the excreted tracer. Of note, both abdominal MRI and PET scans revealed suspicious breast nodules, however, biopsy showed fibroadenomatoid changes consistent with sclerosing adenosis with no evidence of malignancy.\nTo further characterize the cardiac mass, an echocardiogram was performed, which did not show the mass seen earlier on the CT scan. Further workup with cardiac MRI showed a well-circumscribed mass in the interatrial septum measuring 2.0 cm x 1.7 cm, with heterogeneous pattern in the late gadolinium enhancement sequences. A cardiologist was consulted for the left atrial mass, who concluded that it was most likely benign atrial myxoma based on MRI findings. No further treatment, including anticoagulation, was recommended.\nTo prevent an intraoperative hypertensive crisis, given occasional hypertension on ambulatory blood pressure monitoring, the patient received alpha blockade with doxazosin 2mg daily, which was up titrated to target blood pressure <130/80 mmHg supine and systolic blood pressure 90-110 mmHg upright, and to eliminate all occasionally high values. Her final dose before surgery was 8 mg twice daily. She then underwent TURBT for UBPGL resection. Doxazosin was continued post-operatively due to an elevated blood pressure reading. However, she decided to go home immediately after the surgery rather than stay overnight for monitoring. Therefore, she was discharged with doxazosin. Ten days later, she was seen by her cardiologist for a follow-up regarding her cardiac mass, and her dose was reduced. The patient had multiple rescheduled and missed appointments with endocrinologists. When she eventually followed up with endocrinology at three-month post-procedure, her dose was completely discontinued.\nOn pancystoscopy, the bladder mass appeared as a large (greater than 5 cm) endophytic mass of the left lateral and anterior walls that extended to the bladder neck. The gross specimen consisted of multiple irregularly and rectangularly shaped fragments of soft pinkish tissue that in total measured 7.0x6.0x1.0 cm in aggregate. Histologic sections showed again fragments of paraganglioma, composed of variably sized nests of eosinophilic cells with round to oval nuclei mostly arranged in a classic Zellballen pattern of growth, separated by a delicate fibrovascular network. No comedonecrosis or vascular invasion was identified. Immunohistochemical stains showed strong diffuse immunoreactivity with synaptophysin, chromogranin, and GATA-3, with negative keratin (AE1/AE3) and p63 stains ( Figure 2 ). The ki-67 labeling index was greater than 3% (7.5% on average, as calculated over 1000 cells from hot spots in a representative section of the tumor). SDHB immunohistochemistry testing showed loss of stain in the tumor cells, with appropriately staining internal controls, represented by the endothelial and stromal cells ( Figure 3 ). Overall, a diagnosis of primary UBPGL was made based on clinicopathologic findings.\nBoth germline and tumor genetic testing were undertaken as part of the clinical work-up. The germline testing was performed via the Ambry Genetics Custom-Next Cancer Panel (consisting of 85 genes) with RNA Insight and revealed a variant of unknown significance (VUS) in MET (c.816G>C, pQ272H). The tumor sample was sequenced by using our institution's clinically validated 700-gene next-generation sequencing (NGS) panel known as UF Health Pathlabs Gatorseq700 NGS Screening Panel to evaluate for mutations and copy number variants. Briefly, genomic DNA extracted from the tumor was amplified using the GatorSeq700 NGS Panel and sequenced on the Novaseq 6000 to high uniform depth (targeting 500x coverage by non-PCR duplicate read pairs with >99% of exons at coverage >100x). Sequence data were processed using the genomic analysis application DRAGEN (enrichment version 3.9.5) with UCSC hg19-altaware as the reference genome. The mutation nomenclature was based on the convention recommended by the Human Genome Variation Society and interpretation was performed per clinical guidelines. Tumor sequencing revealed a seemingly synonymous SDHB mutation (c.642G>A; p.Q214Q) with a deletion in the entire short arm of chromosome 1 spanning SDHB ( Figure 4 ) and no evidence of loss of heterozygosity for the MET VUS. In silico analysis by multiple computational prediction tools supported the deleterious effect of the novel SDHB variant (c.642G>A; p.Q214Q), favoring a donor loss (see Supplementary Data ).\nSubsequently, the patient underwent a repeated bladder cystoscopy and an additional TURBT, which was negative for any residual tumor. Unfortunately, the patient has been lost to follow-up. We have contacted her in order to stress the importance of follow-up and to inquire about her blood pressure, menometrorrhagia, and repeated biochemical profiling.",
"gender": "Female"
}
] |
PMC11190172
|
[
{
"age": 81,
"case_id": "PMC10837710_01",
"case_text": "An 81-year-old woman underwent atrioventricular (AV) node ablation. Her past medical history included permanent atrial fibrillation with poor rate control, dyslipidemia, hypertension, type II diabetes mellitus, and cerebral ischemic attack. Six months earlier, the patient underwent implantation of a permanent pacemaker St. Jude/Abbott Medical 1272 Assurity SR MRI. All physical parameters of the pulse generator and right ventricular lead were under normal limits during routine follow-up after implantation. The device was programmed in VVI mode with a lower rate limit (LRL) of 60 beats per minute (bpm) initially. Programming was changed to VVI 80 bpm after AV node ablation. Several hours after the procedure, pacing at a rate of 80 bpm stopped and was followed by bradycardia with a ventricular escape rate of 37 bpm (Fig. 1), and the patient complained of dizziness. Pacemaker malfunction was suspected. Magnet application was performed and led to resumption of pacing. The patient returned to the electrophysiology department for additional investigations. Initial interrogation showed unchanged parameters of the electrode and good longevity of the battery. R waves were 11 mV, right ventricular lead impedance was 531 Ohms, and the capture threshold was < 1 V/0.5 msec. Provocative testing with deep respiration and active movement of the arms and the generator pocket did not evoke pacing inhibition or show artefact on ventricular electrogram. A 12-lead electrocardiogram (ECG) showed ventricular pacing at the programmed rate, and no loss of capture. Chest radiograph showed no obvious lead dislodgement or fracture. The magnet rate was normal. Re-interrogation revealed active hysteresis function at a rate of 30 bpm, which explained the documented bradycardia episode with an escape rate just slightly higher than the hysteresis rate. Hysteresis was triggered after a premature ventricular contraction (PVC) and remained active in the presence of an escape at around 35 bpm.",
"gender": "Female"
}
] |
PMC10837710
|
[
{
"age": 18,
"case_id": "PMC11410032_01",
"case_text": "An 18-year-old female presented with extensive warty growths around the anus and in the genital area of 4 months duration, without any associated itching or pain. The patient had a male partner with whom she engaged in sexual intercourse several times within the year prior to the onset of genital warts. There is no history of other adverse habits. The physical examination reveals multiple cauliflower-like growths in the vulvar and perianal regions, with a rough surface, some of which are fused into plaque-like lesions. The patient reported fevers and butterfly erythema on the face 5 months prior to visit. She was diagnosed elsewhere with SLE based on laboratory testing. Initially, she was treated with rituximab at another hospital. The size and number of warty lesions subsequently increased. The patient was admitted to the Rheumatology Department at our hospital because of poor SLE control. Upon hospital admission, the following laboratory findings were recorded: anti-double-stranded DNA level, 294 IU/mL; anti-nuclear antibody titer, 1:1,280; anti-Smith (Sm) antibody, positive; anti-nRNP antibody, positive; anti-SSA antibody, positive; anti-histone antibody, positive; complement C3 level, 0.16 g/L; complement C4 level, 0.02 g/L; white blood cell count, 2.7 x 109/L; hemoglobin level, 113 g/L; erythrocyte sedimentation rate, 53 mm/h; alanine aminotransferase level, 111.9 U/L; aspartate aminotransferase level, 70.8 U/L; immunoglobulin G level, 28.40 g/L; immunoglobulin A level, 4.28 g/L; 24-hour urinary protein level, 0.56 g/24 h; and direct Coombs' test, positive. Despite receiving three cycles of glucocorticoids combined with belimumab and hydroxychloroquine, the CA lesions continued to grow. The belimumab therapy was therefore discontinued and glucocorticoids with hydroxychloroquine and iguratimod therapy was initiated. Notably, the extensive CA involving external genitalia was a treatment challenge. After consultation with the Dermatology Department, a physical examination revealed multiple wart-like growths in the external genitalia, cervix, and perianal region, with diameters ranging from 2-30 mm (Figure 1A, C). Cervical testing revealed HPV-DNA positivity for types 11, 31, and 59 with an HPV E6/E7 mRNA expression of 22.031 copies/mL. The cervical ThinPrep test (TCT) suggested atypical squamous cells of undetermined significance. A gynecologic examination and cervical biopsy were performed, which showed positive acetic acid and negative iodine staining tests (Figure 2A, D). A histopathologic examination of the biopsy indicated grade I cervical intraepithelial neoplasia (Figure 2G). Furthermore, DNA triplex testing for urinary and genital tract infections yielded a positive result for Ureaplasma urealyticum DNA. Considering the desire for fertility preservation and an aesthetically pleasing outcome, PDT emerged as the primary approach. Carbon dioxide laser ablation was performed on the larger warts before PDT, which facilitated infiltration of the photosensitizer, 5-aminolevulinic acid (ALA), thereby enhancing the efficacy of PDT, potentially reducing the required medication dosage, and alleviating the economic burden on patients. After cleansing the treatment area, a 20% ALA gel (Shanghai Fudan Zhangjiang Bio-Pharmaceutical Co. Ltd., Shanghai, China) was applied to the lesion and the surrounding 1 cm, then covered with an opaque film. Following 3 h of light avoidance, the area was treated with red light irradiation (80-100 J/cm2; 633 nm for 20 min). The patient experienced a mild burning sensation during treatment, with a pain score of 5 on the Visual Analogue Scale. The patient had an increased vaginal discharge 1-3 days after each treatment. ALA-PDT was administered once weekly or every 2 weeks for a total of seven sessions with successful removal of anogenital warts confirmed by physical examination (Figure 1B, D). The U. urealyticum infection was treated with sustained-release clarithromycin tablets (0.5 g orally daily) and HPV-DNA testing was performed 3, 6, and 12 months post-treatment. The cutaneous lupus lesions gradually improved and she was regularly followed in the Rheumatology and Dermatology Departments at our hospital. After 12 months, HPV-DNA typing was positive for type 6 and negative for other types. HPV E6/E7 mRNA was negative. TCT was negative for intraepithelial lesions or malignancy and Mycoplasma testing was negative. To better evaluate the patient's cervical condition and due to the remaining HPV type 6 positivity, colposcopy and biopsy were performed, which revealed a mostly smooth cervix with a cluster of acrocyanotic warts in the 3-5 o'clock position (Figure 2B, E). Biopsy of the deeper cervical canal area was performed, indicating persistent grade I cervical intraepithelial neoplasia (Figure 2H). A routine examination without colposcopy might have missed this lesion, then the warty lesions on the cervix were scraped. Given the ongoing need for long-term glucocorticoid and immunosuppressive or immunomodulatory drugs, such as iguratimod, an additional four sessions of PDT were recommended. Following completion of the initial treatment course, a repeat colposcopy was performed due to the patient's unique circumstances, which revealed complete clearance of the warts. (Figure 2C, F) The patient continued to be monitored with no recurrence of warts in the anogenital or vulvar areas for 14 months. The SLE treatment regimen currently includes prednisone acetate tablets (7.5 mg orally daily), iguratimod tablets (25 mg orally, twice a day), and hydroxychloroquine tablets (0.2 g orally, twice a day), ensuring stable control of SLE.",
"gender": "Female"
}
] |
PMC11410032
|
[
{
"age": 5,
"case_id": "PMC10781892_01",
"case_text": "A 5-year-old girl was examined, complaining of gingival recession and floating primary molar teeth without pain, or inflammation. Parents were asked about the previous episodes of pain, swelling, and other oral manifestations and they reported none. She was initially seen by a general dentist and then referred to a pediatric dentist for further examinations. A complete medical and psychosocial history were obtained from her family members; there were no record of cancer, genetic diseases, or psychological problems. The patient was born in the third pregnancy with average weight and height, and had no severe systemic illnesses since then.\nClinical intraoral examination showed gingival recession and attachment loss with no calculus, or inflammation. There was a periodontal pocket with necrotic interdental papilla, visible furcation, and exposed roots in the first and second primary molars on both sides of the mandible and maxilla (Figure 1). Neither pain, halitosis, extensive caries, calculus, bleeding on probing, nor skin involvement was seen. The grade of hypermobility was Grade 2. Ophthalmological, dermatological, cardiac, neurological, and endocrinal evaluations were done with no specific findings.\nAfter observing idiopathic attachment loss without inflammation or calculus, consultations were taken with a periodontologist and pediatric dentist, and then a blood test and panoramic radiography were ordered. Hematology and blood test biochemistry demonstrated normal blood cell count, alkaline phosphatase, fast blood sugar (FBS), thyroid hormones, calcium, and phosphorus. Panoramic radiography demonstrated radiolucency around mandibular primary molars. Teeth were floated due to destructed lamina dura and bone loss in a scooped-out shape. The second premolar bud on the right side was absent, and hypodontia was presented (Figure 2).\nAttachment loss brings the diagnosis into periodontists, and due to the patient's age, pre-pubertal periodontists were among the differential diagnoses. No inflammation, edematous gum, or bleeding on probing were seen. The other options were early diabetes, hyperparathyroidism, and hyperthyroidism, which were declined by blood test reports. Panoramic radiography and clinical examinations led us to periodontitis as a manifestation of systematic disease, and moved the doubt toward neoplastic diseases, such as LCH which needed to be confirmed by IHC.\nFor this purpose, the first and second right mandibular primary teeth were anesthetized by an inferior alveolar nerve block with lidocaine 2%. There were no significant lesions; however, some surrounding soft tissues were collected for pathology assessments by a slight curettage in the socket after extraction, and then it was irrigated with normal saline 0.9%. This procedure was performed in a quite sterile and atraumatic condition to reduce possible contamination. Tissue samples were soaked in formalin and were immediately sent to the laboratory. Ibuprofen 200 mg, amoxicillin 500 mg, and metronidazole 250 mg were prescribed as analgesic and antibiotic Medications for a week. The patient was recalled 5 days after tooth extraction to evaluate the healing process and possible infection and in the next follow-up session, extracted socket healing was normal without infection or bone necrosis (Figure 1).\nIHC reported positive neoplastic cells based on S-100 and CD1a markers, and confirmed LCH. After diagnosis, she was referred to a pediatric oncologist for treatment (Figure 3).\n 99m Technetium-methylene diphosphonate (99m Tc-MDP) skeletal scintigraphy was performed to evaluate bone involvements without sedation. The radiopharmaceutical method with 99m Tc-MDP targeted hydroxy apatite crystal in the skeleton with 6 mCi injected dose and 2.5 mSv radiation burden. The pelvic, knees, hands/feet, and cervicothoracic area were assessed. Mild osteoblastic activity in the zygomatic process of the right frontal lobe was noted. Otherwise, no remarkable active osteoblastic lesion was detected in the skeleton. One study has reported a case with LCH, indicating osteolytic lesions on zygomatic and frontal bone that led to eyelid swelling and pain. Despite the osteoblastic activities in the zygomatic process of the frontal bone in this case, no signs or symptoms were reported in this area such as eyelid swelling, pain, tenderness, or visual impairment.\nThe chemotherapy regimen started with vinblastine 6 mg and prednisone 5 mg. Kytril (Granisetron hydrochloride) 3 mg was injected as an antiemetic medication. Twenty days after the last chemotherapy session, a second scintigraphy was ordered with the same injected dose and radiation burden. Focal intense osteoblastic activity in the distal phalanx of the left-hand second digit was seen along with mild osteoblastic activity in the fronto-orbital and zygomatic process of the right orbit, indicating the progression of the disease. Right otitis media, along with elevated erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and anemia were seen (Figure 4).",
"gender": "Female"
},
{
"age": 18,
"case_id": "PMC10781892_02",
"case_text": "There were no significant challenges in terms of diagnosis, including financial problems or child cooperation. However, the sudden loss of their 18-year-old son due to an accident made the family vulnerable and sometimes resistant to follow-up. However, it was resolved by constant recalls. See Table S1, for sum up the primary procedure for oral LCH diagnosis in a glance.",
"gender": "Unknown"
}
] |
PMC10781892
|
[
{
"age": 41,
"case_id": "PMC10576643_01",
"case_text": "A 41-year-old woman, with a history of three cesarean sections and two miscarriages, visited her previous physician for a spontaneous pregnancy. Although a gestational sac was present in the lower uterus, it was not diagnosed as CSP (Figure 1). She was referred to our hospital at 25 weeks of gestation with suspected placenta praevia and was admitted to the hospital owing to suspected, threatened preterm delivery. At 26 weeks, cystoscopy revealed vascular protuberances in the mucosa from near the bladder triangle to the posterior wall (Figure 2). At 30 weeks, ultrasonography revealed a bulging placenta within the scar, posterior deviation of the cervical canal, and enlarged vessels protruding toward the bladder (Figure 3). Based on these findings, the patient was diagnosed with PAS invading the bladder due to the continuation of CSP. Magnetic resonance imaging showed vertical stretching of the bladder and placental protrusion towards the bladder, suggesting placental invasion into the bladder wall. The muscle layer on the right side of the lower uterine corpus appeared to have been replaced by the placenta. However, a ureteral invasion was not suspected (Figure 4). Additionally, there was no preoperative evidence of hydroureter formation. Repeat cesarean delivery between 34 0/7 and 35 6/7 weeks of gestation is recommended for patients who opt for expectant management of CSP. However, in this case, the patient was considered at high risk for uterine rupture owing to the increased vascular protrusion into the bladder and persistent uterine contractions in the preceding weeks. We decided on an elective cesarean hysterectomy at 31 weeks and 6 days of gestation based on discussions with urologists, radiologists, anesthesiologists, and pediatric specialists. The newborn (female; birth weight, 1504 g; Apgar score 2/3/6) was delivered through a transverse incision in the uterine fundus under general anesthesia after the placement of a ureteral stent. Subsequently, bilateral uterine and bladder artery embolization was performed. Cystectomy was deemed unnecessary because the bladder artery had been embolized beforehand and bleeding from the site of placental perforation was thought to be controllable. The bladder was dissected by tying off the cervix using a nelaton catheter, leaving the placenta slightly on the bladder. However, several arterial hemorrhages were observed in the remaining villi in the bladder, and hemostasis was difficult. The placenta adhered to the ureter and replaced the parenchyma. The uterus was then removed, leaving a few villi attached to the ureter. Bleeding from villi adherent to the ureter may be effectively controlled using a bipolar coagulator.\nAn aortic balloon was placed but was not inflated. Intraoperative blood loss was 6600 mL, and 900 mL of autologous RBC (red blood cells), 967 mL of autologous fresh-frozen plasma (FFP), 8 units of RBC, 12 units of FFP, 12 units of cryoprecipitate, and 20 units of platelets were transfused. Gross findings of the placenta show that the placenta extends to the serosa. Placental pathology showed chorionic components on the serous surface through the myometrium. (Figure 5).\nThe ureteral stent was removed on postoperative day 22, although resection was performed due to stenosis in the right ureter. On postoperative day 64, the stenosis had improved, and the right ureteral stent was removed.",
"gender": "Female"
}
] |
PMC10576643
|
[
{
"age": 87,
"case_id": "PMC11137769_01",
"case_text": "This case report describes an 87-year-old woman with a medical history of diabetes mellitus and hypertension who presented with abdominal pain, fever, vomiting and weight loss over a period of 2 weeks. Physical examination revealed paleness, cachexia and abdominal tenderness without palpable mass or lymphadenopathy. Skin examination was normal, without any suspected malignant lesions.\nLaboratory tests revealed normochromic normocytic anemia with a hemoglobin level of 9 g/dl, leukocyte count of 10,310/mul, lymphocyte count of 910/mul, neutrophil count of 8770/mul, platelet count of 525,000/mul, creatinine of 106 mumol/l, lactate dehydrogenase of 470 UI/ml and C-reactive protein level of 31 mg/l. The blood smear result was normal and the bone marrow biopsy was not performed.\nAbdominal ultrasound and computed tomography revealed nodular thickening in the transverse and right colon with infiltration of pericolonic fat and a few subcentimeter lymph nodes (Figure 1). Colonoscopy detected polypoid mass lesions with ulceration ranging from 3 to 4 cm in size in the transverse and right colon (Figure 2). Histological examination of biopsies of these lesions revealed a diffuse infiltrate of the colon mucosa that did not invade the crypts (Figure 3). It is composed of medium to large cells with atypical nuclei and numerous mitoses. Immunohistochemical analysis showed that cells were negative for CK7, CK20, PS 100, Chromogranin A, synaptophysin, CD3, CD20, CD5, CD23, Bcl-2, Bcl-6, CD10, Pax-5, CD30, CD56, ALK, TdT, CD138 and CD1a. The cells were diffusely positive for CD4 and CD8 (Figures 4 & 5). The Ki-67 proliferation index was 100%. The patient was diagnosed with ITCL, NOS and further computed tomography scan revealed adrenal nodes (23 x 31 mm) and 14 mm long axis latero cava lymphadenopathy, classified as stage VI according to the Ann Arbor classification (Figure 1). The abdominal CT scan did not show any other deep lymphadenopathy. The thoracic CT scan did not show any lymphadenopathy and we did not proceed with a PET scan (Figure 1).\nThe patient was proposed to undergo the CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone) protocol by the hematologist. Due to insufficient resources, HTLV-1 and coeliac serology as well as p53 mutations, EBER-ISH and TCL1 immunostaining were not performed. Few days later (15 days), the patient presented with an ulcero-budding gum tumor with repression of the fixed prosthesis (Figure 6). She did not undergo gum biopsy. She died 40 days after diagnosis, most likely due to tumor progression.",
"gender": "Female"
}
] |
PMC11137769
|
[
{
"age": 70,
"case_id": "PMC10924306_01",
"case_text": "A 70-year-old female presented with a one-month history of unexplained pain below the xiphoid process. She had undergone a myomectomy three decades earlier. Abdominal contrast-enhanced computed tomography (CT) disclosed a slightly hypodense space-occupying lesion within the pancreatic head, accompanied by mild dilatation of the pancreatic duct but without bile duct dilatation. The enhanced scan exhibited relatively modest enhancement. No irregularities emerged during tumor marker assessments, including CA-199, CEA, and CA-125. Laboratory analyses indicated hepatic function impairment (ALT: 539 U/L, AST: 472 U/L, GLD: 140.5 U/L, gamma-GT: 615 U/L, ALP: 821 U/L, TBIL: 178.9 mumol/L, DB: 131.5 mumol/L, IBIL: 47.4 mumol/L). In order to pursue further assessment, the patient underwent an 18F-FDG PET/CT examination. The maximum intensity projection (MIP) of the 18F-FDG PET/CT divulged a hypermetabolic lesion within the upper abdomen (Figure 1A). A 9.5 x 8.3 x 7.1 cm irregular lesion situated at the pancreatic head exhibited noteworthy FDG uptake, characterized by a maximal standardized uptake value (SUVmax) of 22.4 (Figures 1B-E). Mild to moderately FDG-avid peripancreatic lymph nodes, displaying indistinct boundaries with the pancreatic mass (Figures 1B-E). Additionally, mildly hypermetabolic retroperitoneal lymph nodes were detected (Figures 1F, G). Subsequent to these findings, the patient underwent a pancreatic tumor biopsy and gastrojejunostomy under general anesthesia. The conclusive histopathological diagnosis unveiled diffuse large B-cell lymphoma of the pancreatic head, identified as the non-germinal center type. Subsequently, this patient commenced a low-dose CHOP chemotherapy regimen combined with rituximab (R-miniCHOP). Encouragingly, the patient displayed commendable tolerance and remained devoid of pronounced adverse reactions. At present, the patient is engaged in the sixth cycle of chemotherapy.",
"gender": "Female"
},
{
"age": 31,
"case_id": "PMC10924306_02",
"case_text": "A 31-year-old male presented with a persistent post-prandial stomach flatulence for a duration of 2 months, accompanied by abdominal pain lasting for 1 month. The abdominal pain exhibited mild tenderness and was not concomitant with any additional discomfort. The patient bore a medical history marked by ankylosing spondylitis and hemorrhoids. The scrutiny of tumor markers rendered abnormal outcomes: sSCC-Ag at 1.800 ng/ml, ferritin at 459.10 ng/ml, CA125 at 171.00 U/ml, and CA19-9 at 12.00 U/ml. Abdominal ultrasonography revealed no aberrations, while electronic gastroscopy indicated chronic non-atrophic gastritis. The abdominal contrast-enhanced CT unveiled occupying lesions within the pancreas, coupled with lymph node enlargement within the retroperitoneal space. Subsequent 18F-FDG PET/CT illustrated a hypermetabolic lesion situated in the upper abdomen, with peripheral subsidiary lesions evident in the maximum intensity projection (MIP) (Figure 2A). Notably, the thoracic spine also exhibited mild hypermetabolism (Figure 2A). 18F-FDG PET/CT delineated a conspicuously intense hypermetabolic lesion (SUVmax 22.0) situated at the head and neck of the pancreas. Concurrently, hypermetabolic lymph nodes in the posterior pancreatic region were observed (Figures 2B-E). Additionally, mild hypermetabolic (SUVmax 2.3) lymph nodes were found in left clavicular region and left internal mammary (Figures 2F-I). Subsequent CT-guided puncture biopsy of the pancreas yielded a diagnosis of non-Hodgkin T-cell lymphoma. Bone marrow puncture results were normal. Upon diagnosis, the patient initiated chemotherapy, commencing with one cycle of CHOP-E, followed by six cycles of CHOPE combined with chidamide, and culminating in one cycle of cyclophosphamide and etoposide. Following the administration of five chemotherapy cycles, the patient experienced neutropenia and fever, with a neutrophil count of 1.24 x 109/L and a body temperature of 37.8 C. The condition improved in response to anti-infection treatment. At present, the patient is undergoing the eighth cycle of chemotherapy.",
"gender": "Male"
}
] |
PMC10924306
|
[
{
"age": 80,
"case_id": "PMC10787369_01",
"case_text": "An 80-year-old Caucasian female presented with acute chest pain and one week of progressive dyspnoea on exertion on a 6-month background history of fatigue. Her medical history was notable for hyperlipidaemia, hypertension, and depression. Her medications included a Selective Serotonin Reuptake Inhibitor, a statin, an anti-muscarinic, a proton pump inhibitor, and calcium supplementation. There was no history of autoimmune disease, malignancy, tuberculosis, or HIV.\nOn admission, physical examination revealed signs consistent with heart failure (i.e. bilateral peripheral oedema, bibasal crepitations on auscultation of lungs, and mild epigastric tenderness). Initial blood pressure readings were within normal range. Heart sounds were normal with no added sounds. There was no jugular venous distention. Pulsus paradoxus testing was not performed.\nElectrocardiogram (ECG) on admission revealed a complete heart block with small QRS complexes (Figure 1). A CT pulmonary angiogram (CTPA) was negative for pulmonary embolism but demonstrated a large pericardial effusion (>3 cm depth) with small to moderate bilateral pleural effusions and two enlarged mediastinal lymph nodes.\nTransthoracic echocardiography (TTE) demonstrated normal left ventricular systolic function with an estimated left ventricular ejection fraction of 60%. No significant valvular abnormalities were seen. A large circumferential pericardial effusion measuring 27 mm with evidence of right ventricular and right atrial diastolic collapse was present (Figure 2). The patient's full blood count was normal. Her renal profile revealed Creatinine of 96 micromol/L (49-90). Neither is consistent with tumour lysis syndrome (TLS). High Sensitivity troponin was 108 ng/L (<16) and an elevated brain natriuretic peptide of 464.8 ng/L (<100) was noted.\nThe patient's condition deteriorated early in her admission. Cardiac tamponade was confirmed clinically. Marked haemodynamic instability was present with a blood pressure measurement of 88/46 mmHg and bradycardia reaching a maximum of 48 bpm. Emergency pericardiocentesis was successfully performed draining a total of 700 mL of blood-tinged serosanguinous fluid from the pericardial space. A dual chamber permanent pacemaker (PPM) was then implanted for treatment of complete heart block. Following these interventions, the patient's blood pressure normalized at 127/60 mmHg, and heart rate was recorded at 70 bpm reflecting a paced rhythm.\nInitial cytological analysis of the pericardial fluid was negative for malignant cells. Mesothelial cells, macrophages, and B and T cell lymphocytes were noted in the sample. Elevated levels of lactate dehydrogenase (LDH) (1955IU/L) were noted.\nA post drainage CT thorax abdomen and pelvis (CTTAP) with contrast was completed which showed a lobulated soft tissue mass surrounding the right coronary artery extending transmurally involving the atrioventricular junction to encroach into the right atrium. It measured 52 mm at its maximum diameter. (Figure 3). These findings were suggestive of cardiac neoplasm and the differential diagnosis included lymphoma and sarcoma. The patient underwent a transoesophageal echocardiogram (TOE) guided endomyocardial biopsy. The initial approach for the biopsy used a standard 7 French catheter via transfemoral access. Steering the catheter tip to the required location on the anterior wall of the right atrium proved technically challenging. Therefore, an Agilis steerable sheath was used which allowed optimal positioning of the bioptome and biopsy of the right atrial mass (Figure 4). Histology of the tissue samples confirmed a diffuse large B-cell lymphoma ABC subtype (Non-Hodgkin's lymphoma) (Figure 5).\nA multidisciplinary team approach, with collaboration between cardiology, medical oncology, and pathology teams, was employed to formulate a management plan.\nFollowing considerations including patient age, co-morbidities, disease progression, and prognosis, chemotherapy with rituximab, cyclophosphamide, hydroxydaunorubicin, oncovin, and prednisolone (R-CHOP) was deemed to be the most appropriate treatment. The patient declined all further intervention, opting instead for conservative symptomatic management of her disease progression. The patient died from her disease 1 month later.",
"gender": "Female"
}
] |
PMC10787369
|
[
{
"age": 75,
"case_id": "PMC11098598_01",
"case_text": "We present a 75-year-old Caucasian female patient with ME/CFS, who was diagnosed after an acute EBV infection (mononucleosis) at the age of 51. In December of 1999, she developed an acute flu-like illness: sore throat and fever for 10 days. Since then, the patient has experienced a sequence of global exacerbated illness followed by partial recovery, but never fully recovered. She presented mainly neurological and cognitive impairment, including fatigue, severe PEM, severe dysautonomia, unrefreshing sleep, widespread achiness and tenderness, sporadic dizziness with vertigo, severe orthostatic intolerance, and brain fog. After meeting with a few specialists, she was finally diagnosed with ME/CFS, based on the Fukuda criteria (CDC 1994 criteria) in 2004, by a neuroscience professor and ME/CFS specialist, Dr. Benjamin H. Natelson, at the University of Medicine and Dentistry of New Jersey.\nAt the visit, the physical examination and laboratory tests showed normal. The vital signs were normal in the supine position. However, when the patient changed from the supine position to the standing position, her end-tidal CO2 (ETCO2) fell to 30 mmHg (normal range: 35-45 mmHg). In addition, her symptoms became worse when she voluntarily hyperventilated in 10 breaths.\nIn 2017, the patient visited a different ME/CFS specialist, Dr. Lucinda Bateman, in the Bateman Horne Center, Salt Lake City, UT, who made the same diagnosis based on the 2015 criteria of the Institute of Medicine (IOM, or National Academic of Medicine, NAM). In addition, the patient's symptoms of unrefreshing sleep, cognitive impairment, and severe orthostatic intolerance with 70% drop in pulse pressure from 44 mmHg to 13 mmHg in a 10-minute standing measurement, demonstrated by using the National Aeronautics and Space Administration Lean Test (NLT), also made her meet the Canadian Consensus Criteria () as a ME/CFS patient.\nPrior to her bout of EBV infection in 1999, the patient was a healthy, professional woman. After acquiring the infection, the patient has suffered from ME/CFS with severe dysautonomia, cognitive impairment, and widespread pain. The patient also maintained relatively high titers of EBV antibodies, including anticapsid antigen (anti-VCA) IgM/IgG and anti-early antigen (EA) IgG, despite the fact that she has been taking antiviral drugs, including valacyclovir and valganciclovir for long periods. The elevated anti-VCA and anti-EA antibodies indicated an acute phase of EBV infections, suggesting repeated re-infections (or lytic infections) of EBV, during multiple episodes of her \"crash\" times. A very recent blood test was performed in June 2023, which demonstrated anti-VCA IgG > 600.0 (standard range 0.0-17.9) and anti-EA IgG > 103.0 U/mL (standard range 0.0-8.9 U/mL).\nThe elevated anti-EBV antibodies of the patient, however, did not meet the diagnostic criteria for chronic active Epstein-Barr virus (CAEBV) disease, which requires extremely high antibody detection, including anti-EA IgG >= 160 U/mL. In addition to antibody titers, simultaneous quantitative PCR analyses of her blood samples at the same time indicated relatively low viral DNA loads and her most current laboratory tests (June 2023) showed 248 IU/mL, significantly lower than 10,000 IU/mL, the diagnostic criteria for CAEBV. Furthermore, the patient did not present any common symptoms of CAEBV, which are normally indicators of uncontrolled viral infiltrations of multiple organs, such as lymphadenopathy, splenomegaly, hepatitis, and pancytopenia, except for a fever at the time when she was initially diagnosed with infectious mononucleosis in 1999.\nFurther ChrMT DNA sequencing analysis was performed in September 2023. Whole blood was collected using BD vacutainer tubes with K2 EDTA. The blood sample was centrifuged at 1, 200 x g for 10 min within 24 hours of collection. The middle puffy layer of cells, containing white blood cells (WBCs) and platelets, which appeared after the initial centrifugation, was used for cellular ChrMT DNA isolation. The top layer of plasma collected was then centrifuged at 2, 000 x g for 10 min to remove any contaminated cells. After this second centrifugation, the top layer of plasma was collected and further centrifuged at 16, 000 x g, 4 C, for 30 min to pellet extracellular mitochondria for ChrMT DNA isolation and TEM analyses.\nThe DNA of plasma or cells was first isolated using the QIAamp DNA Kit (Qiagen, Germantown, MD) separately. Briefly, a pellet of the cells or plasma was resuspended in 180 muL buffer ATL, mixed with Proteinase K, and incubated at 56 C overnight with occasional vortexing. The digested samples were added to 200 muL buffer AL, incubated at 70 C for 10 min, and continued with the standard protocol using spin columns to isolate DNA. The isolated DNA was used for further selective purification and enrichment of mitochondrial ChrMT DNA using a REPLI-g Mitochondrial DNA Kit (Qiagen, Germantown, MD), based on the recommendation of the manufacturer. Briefly, the isolated DNA sample, from either the cells or the plasma pellet, was added to the REPLI-g reaction buffer mixed with REPLI-g human mitochondrial primers, preincubated at 75 C for 5 min, followed by adding DNA polymerase, incubating at 33 C for 8 hours, and then inactivation of the enzyme at 65 C for 3 min. The ChrMT DNA was isolated from the cells (including WBCs/platelets) and the plasma (Figure 2) and stored at -80 C before the sequencing analysis.\nSequencing analysis was performed using primers, and the amplified fragments were cloned into TOPO vectors (Invitrogen, Waltham, MA) for Sanger sequencing. An amplicon of 3,006 base pairs containing the cox1 gene was generated using the primer set of 3734_For: 5'-aagtcaccctagccatcattcta-3' and 6739_Rev: 5'-gatatcatagctcagaccatacc-3'. Another fragment of 2,710-base-pair amplicon containing the ATP6 gene was generated using the primer set of 6511_For: 5'-ctgctggcatcactatactacta-3' and 9220_Rev: 5'-gattggtgggtcattatgtgttg-3'. The isolated ChrMT DNA from either the plasma or cells revealed variants of ChrMT, including ATP6 (ChrMT: 8981A > G; Q152R) and Cox1 (ChrMT: 6268C > T; A122V). Sequencing was performed by Eurofins Genomics (Louisville, KY).\nThe mitochondria isolated from the patient's plasma were further analyzed using methylamine tungstate (Nano-W, Nanoprobes, Yaphank, NY) negatively stained, whole-mount TEM. Mitochondria were identified with altered shapes, including irregular shapes (Figure 3), and different sizes, ranging from 400 nm to over 1 mum. Some mitochondria appeared to \"protrude\" vesicle-like structures (approximately 100 nm in diameter) from the membrane (Figure 3).",
"gender": "Female"
}
] |
PMC11098598
|
[
{
"age": 62,
"case_id": "PMC10987178_01",
"case_text": "A 62-year-old male underwent wide excision surgery for inguinal and gluteal HS. This patient had multiple inflammatory nodules and draining tunnels in the inguinal and gluteal region. The first HS symptoms started at the age of 14 and he received multiple courses of antibiotics, such as clindamycin and metronidazole, and three prior surgical interventions. The patient was an active smoker with a BMI of 25.7 kg/m2 at the time of the surgery. During surgery, we observed multiple orifices and cavities forming a peculiar spongy appearance of the perianal skin with multiple cysts and giant comedones (Fig. 1).\nThe perianal lesions were asymptomatic and the patient had never received any perianal treatment for the comedones or cysts. Histopathology was performed and demonstrated dilated hair follicles with flaky keratin and loose hair shafts in the center. Therefore, we concluded that this spongy aspect most likely is the result of spontaneous shedding of the cystic contents.",
"gender": "Male"
}
] |
PMC10987178
|
[
{
"age": 60,
"case_id": "PMC11330852_01",
"case_text": "A previously healthy 60-year-old female was admitted to our tertiary academic center for influenza-like illness, headache, dry cough, and fever (40 C) within 14 days. Prior to admission, she sought medical attention at a local clinic. However, the effectiveness of antipyretic drugs was not satisfactory. Seven days earlier, she experienced breathing difficulties that gradually worsened.\nUpon admission, physical examination showed a temperature of 36.5 C, heart rate of 68/min, respiratory rate of 20/min, and blood pressure of 116/47 mmHg, SPO299% (with high flow humidified oxygen therapy, flow rate 35L/min, oxygen concentration 80%). Auscultation revealed dull percussion in both lungs, thick breathing sounds in both lungs and a few moist rales. Upon questioning the patient's son, we learned she fed chickens and ducks at home and had a history of contact with poultry.\nLaboratory investigations revealed type I respiratory failure, disturbance of water and electrolyte balance (hyponatremia, hypokalemia), anemia, hypoproteinemia, abnormal liver function, increased NT-pro BNP, lactate dehydrogenase, procalcitonin, erythrocyte sedimentation rate (ESR), D-dimer, and fibrinogen (Table 1). Other investigations identified urine occult blood, ketone bodies and a negative COVID-19 nucleic acid test. Chest CT showed multiple patchy high-density shadows in both lungs, consolidation shadows in the upper lobes of both lungs, numerous small nodules in both lungs and bilateral pleural effusion (Figure 1). \nThe patient was diagnosed with severe pneumonia, type I respiratory failure, hypoproteinemia, electrolyte disturbance (hyponatremia, hypokalemia), abnormal liver function, and mild anemia upon admission. Considering the patient had a history of contact with poultry, preliminary suspicion suggested that the patient may be infected with atypical pathogens. Then, the patient was treated with an intravenous infusion of moxifloxacin (0.4g qd) and oral doxycycline (0.1g q12h), supplemented with protecting gastric mucosa, anticoagulation, resolving phlegm, dilating bronchi, and maintaining water-electrolyte balance by improving the symptom of respiratory failure via oxygen inhalation.\nOn the second day of admission, the patient experienced a progressive decrease in blood oxygen saturation (oxygenation index of 74). As a result, the patient required intubation and ventilator (PCV, FiO2 70%, PEEP 14.0 cmH2O). Repeated arterial blood-gas analysis showed a pH level of 7.47, PaCO2 at 42mmHg, PaO2 at 87mmHg, PO2/FiO2 at 124 mmHg, and blood lactate at 1.0mmol/L. Laboratory test results indicated a weak positive for influenza A (H1N1) antigen, and the patient was given oral antiviral treatment with 40mg of mabaloxavir tablets. Bronchoalveolar lavage fluid (BALF) samples were sent for metagenomic next-generation sequencing (mNGS) -DNA detection to obtain more information on the pathogen. Only C. abortus was detected with a 1486 sequence number (85.53% of relative abundance) by mNGS-DNA tests of BALF (Figure 2). Thus, we replaced doxycycline with an intravenous infusion of omadacycline (0.1 qd), while the intravenous infusion of moxifloxacin (0.4g qd) treatment was continued. \nDelightedly, the temperature and thermal potential of the patient decreased significantly. The oxygenation index increased significantly, the percentage of neutrophilic percentage, and C-reactive protein and procalcitonin continued to decline. However, the patient experienced a high fever (39 C) again on the 7th day of admission. Then, the patient underwent lung CT examination again (Figure 3), indicating that the ground-glass lesions in both lungs were significantly increased. In contrast, the consolidation of both upper lungs was reduced compared to the previous examination. Considering the possibility of other infectious pathogens, the treatment was changed to an intravenous infusion of levofloxacin (0.5g qd) and omadacycline (0.1 qd). Subsequently, the patient's temperature gradually decreased, but a low fever remained. On the 8th day of admission, Chlamydia was detected with 9 specific reads (1.07% of relative abundance) by mNGS-DNA tests of BALF. \nOn the 11th day of admission, the patient was removed from the tracheal intubation and received high-flow sequential oxygen therapy. The patient's urine presented as flocculent material with a slightly cloudy color. A routine urine examination revealed piles of pus cells. Moreover, the urine culture of the patient revealed multi-drug resistant Escherichia coli (sensitive to ertapenem, imipenem, meropenem, amikacin, and furantoin, remaining resistant), indicating resistance to levofloxacin (mic>=8). Therefore, levofloxacin was adjusted to an intravenous infusion of meropenem (1g q8h). Consequently, the patient's condition improved, and she was discharged. The patient's condition and laboratory index also improved. The biochemical indicators of the patient's liver function throughout the treatment process showed a slow upward trend. Although hepatoprotective drugs were used, ALT and AST were still at twice the normal upper limit. She was later discharged on the 14th day of admission and transferred to a local hospital for further treatment.",
"gender": "Female"
}
] |
PMC11330852
|
[
{
"age": 15,
"case_id": "PMC11324534_01",
"case_text": "This study was approved by the Ethics Committee of the Tokyo Medical University Hospital (Tokyo, Japan). Written informed consent was obtained from the patient. The proband in this study was the first child of non-consanguineous, healthy parents with no family history of DSD or adrenal dysfunction. The patient was born at term without genital ambiguity, with normal weight and length. While there were no marked abnormalities in the patient's primary and secondary sexual characteristics, the patient had visited a hospital in Korea for primary amenorrhea at the age of 15, where DSD was suspected and a chromosome test was performed. Consequently, the patient was diagnosed with 46,XY DSD with typical female genitalia.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC11324534_02",
"case_text": "At the initial visit, laboratory analysis indicated high luteinizing and follicle-stimulating hormone levels, slightly high testosterone levels, high dehydroepiandrosterone sulfate levels, normal sex hormone-binding globulin levels, low estradiol levels, and anti-Mullerian hormone (AMH) levels below detection sensitivity. In addition, pelvic magnetic resonance imaging (MRI) revealed a vagina, a hypoplastic uterus with an undeniable rudimentary uterus, and no evidence of bilateral adnexa. Ten months after the initial visit, the patient underwent a laparoscopic bilateral gonadectomy to reduce the risk of malignancy arising from the gonads. The pathological diagnoses of the right and left gonads were atrophic testicular and salpingeal tissues, respectively. Postoperatively, estrogen replacement therapy was administered, followed by hormone replacement therapy with a combination of estrogen and progestin.",
"gender": "Unknown"
},
{
"age": 23,
"case_id": "PMC11324534_03",
"case_text": "At the age of 23, the patient moved to Japan and continued hormone replacement therapy at a gynecologic clinic. Although no lower abdominal pain or dysmenorrhea were observed during treatment, transvaginal ultrasonography performed for screening revealed a 10-cm cystic mass with undeniable gynecologic malignancy on the left side of the pelvis, after which the patient was referred to our institution for further examination and treatment. Pelvic enhanced MRI with contrast effects showed a vagina, a hypoplastic uterus, and a 10-cm left-pelvic cystic lesion with hematogenous contents and partially solid components (Figures 1A,B). In addition, a vaginal speculum examination performed at the first visit to our institution revealed an incompetent vaginal septum and an atrophic single cervix (Figure 1C). Based on these findings, a malignant tumor arising from the gonadal remnant tissue or endometrial cancer in the rudimentary uterus was diagnosed. As the patient did not wish to preserve her fertility, informed consent was obtained and a laparotomy was performed to facilitate a definitive diagnosis and treatment course.\nIntraoperative findings revealed that the left-pelvic tumor was contiguous with the atrophic uterus, with no marked disseminated lesion. Consequently, one piece of tissue containing both the tumor and atrophic uterus was removed without perforation (Figures 1D,E). Intraoperative rapid pathologic diagnosis indicated that the pelvic mass was a non-communicating rudimentary uterus with a retained uterine hematoma and no malignant findings. Postoperatively, the permanent pathologic diagnosis was confirmed to be similar to the intraoperative diagnosis (Figure 1F); therefore, estrogen replacement therapy was resumed.\nGenomic DNA was extracted from peripheral blood mononuclear cells using the DNeasy Blood & Tissue Kit (Qiagen, Hilden, Germany) according to the manufacturer's instructions. The samples were mixed with 200 muL of AL buffer and 200 muL of ethanol (96-100%), after which they were incubated at 56 C for 10 min. The samples were then mixed with 200 muL of ethanol and the supernatants were subjected to a washing process using a spin column, according to the manufacturer's instructions. DNA quality and quantity were verified using Qubit 2.0 fluorometry (Life Technologies, Carlsbad, California, USA) and the Agilent 2000 TapeStation.\nExome enrichment of genomic DNA was performed using the SureSelect Human All Exon V7 Kit (Agilent, Santa Clara, California, USA), and the Illumina NextSeq 2000 (San Diego, California, USA) platform was used for massive parallel sequencing. In addition, data analysis was performed using the DRAGEN Germline application version 3.8.4 (Illumina, San Diego, USA), with all parameter settings set to default, and ANNOVAR was used for the annotation.\nIn silico analysis was performed using prediction tools from version 4.2 of the dbNSFP database,1 and the SIFT, Polyphen-2, and combined annotation-dependent depletion scores were used to interpret the variant pathogenicity. The AlphaMissense score was also used for prediction. The following criteria were used for diagnostic filtering: (1) retain variants on the list of 83 known DSD-causative genes from the literature, (2) retain variants with allele frequencies <1% in the Genome Aggregation Database, 2 (3) exclude synonymous variants, and (4) retain variants classified as \"Likely Pathogenic\" or \"Pathogenic\" according to the American College of Medical Genetics and Genomics classification criteria. After filtering, the remaining candidates were validated using conventional Sanger sequencing.\nAll protocols used during sequencing and analysis were performed according to the manufacturer's instructions. Genetic testing was performed after obtaining written informed consent, and a clinical geneticist provided genetic counseling.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC11324534_04",
"case_text": "As the patient wished to search for the etiologically responsible genes and evaluate the risk of developing other concomitant diseases, whole-exome sequencing (WES) was performed. Notably, WES detected some variants of previously known DSD-causing genes, including the c.132_134del (p.Asn44del) heterozygous in-frame-deletion in NR5A1 (Figure 2A) and heterozygous nonsynonymous variants of unknown significance (VUS) in DHX37 and SLC26A8, which may be involved in DSD development. The c.465C > T (p.Ser155=) homozygous synonymous variant in SRY was manually retrieved as a candidate phenotype-related variant since SRY is a crucial DSD-causative gene that is also closely related to NR5A1. In silico analysis indicated that the variant in NR5A1 was pathogenic or likely pathogenic, whereas the variants in SRY, DHX37, and SLC26A8 were benign or likely benign (Figure 2C). Furthermore, by investigating protein-protein interactions for NR5A1, SRY, AMH, DHX37, and SLC26A8 using the STRING database, 3 we detected an additional rare variant in CFTR that encodes DSD-causative proteins in these associated networks (Figures 2B,C).",
"gender": "Unknown"
}
] |
PMC11324534
|
[
{
"age": 37,
"case_id": "PMC11298385_01",
"case_text": "After exercising, a 37-year-old woman developed a debilitating headache at the top of her head, which lasted for tens of minutes and was accompanied by several episodes of non-projectile vomiting. At 4 days later, the headache recurred, accompanied by dizziness and vomiting, but resolved after symptomatic treatment at a local hospital. Thereafter, she experienced intermittent dizziness and drowsiness and was prone to emotional tension. A month later, as headache worsened and she experienced fever reaching a peak of 38.5 C, she was admitted to our hospital. Paroxysmal babbling and crying occurred twice, and her reaction worsened. A physical examination revealed a temperature (T) of 36.6 C; heart rate (P), <82 times/min; respiration (R) 18 times/min; and blood pressure (BP), 126/83 mmHg. She was further found to have decreased memory and numeracy and positive bilateral Rossolimo signs. Her neck was slightly stiff, and the chin-chest distance was between two transverse fingers.\nThe patient scored 23 on the Mini-Mental State Examination (MMSE) and 22 on the Montreal Cognitive Assessment (MoCA). The head MRI with T2-weighted imaging (T2WI), fluid-attenuated inversion recovery (FLAIR), and enhancement sequencing revealed a high signal intensity in the cortex of the left occipital lobe and enlarged cerebral sulcus vessels ( Figure 1 ). There were no serological abnormalities. The cerebrospinal fluid (CSF) was colorless and clear, with 1,313 mg/L protein (range: 150-400 mg/L) and 16 x 106/L white blood cells (WBC, range: 0-5 x106/L). The CSF shared oligoclonal bands with the serum (type IV). Next-generation sequencing testing of the CSF was negative. A tissue-based assay (TBA) showed that both the serum and CSF were positive for anti-neuron antibodies, while anti-NMDAR, anti-AMPA1, anti-AMPA2, anti-LGI1, anti-GABAB, and anti-CASPR2 antibodies were negative in the cell-based assay (CBA). Visual-evoked potentials (VEP) showed conduction delays in the bilateral visual pathways, and electroencephalography (EEG) showed increased energy in the alpha band in all leads, which was evident in the occipital region and mainly slow waves. Therefore, the patient was diagnosed with AE, which improved after steroid and immunoglobulin treatments.\nOn the 54th day after onset, the patient suddenly developed babbling with decreased consciousness. Considering delirium, olanzapine and phenobarbital were administered but without significant improvement. A serological examination revealed the following: 3.35 x 1012/L of red blood cells (RBC, range: 4.00-5.00 x 1012/L), 108 g/L of hemoglobin (Hb, range: 110-150 g/L), 28 x 109/L of platelet (Plt, range: 125-320 x 109/L), 18,243 U/mL of soluble interleukin 2 receptor (sCD25, range: 223-710 U/mL), 3,799.16 ng/mL of serum ferritin (range: 4.63-204.00 ng/mL), and positive Epstein-Barr virus (EBV) DNA. The fluctuations in hemoglobin, platelets, and neutrophils are shown in Figure 1 . A bone marrow biopsy revealed the proliferation of bone marrow cells, hemophagocytosis, and a large number of heterogeneous lymphocytes infiltrating the interstitium. The results of immunohistochemistry were listed as follows: CD20, CD79a, and MUM1 (+), MPO (myeloid cells +), CD71 (erythroid cells +), CD61 (megakaryocytes +), CD117 (scattered cells weakly positive), CD34 (-), CD3 (few T cells +), BCL2, BCL6, CD10, and CD21 all (-), and Ki-67 (approximately 80% +). Decreased natural killer (NK) cell activity was detected on bone marrow flow cytometry. As such, the patient was diagnosed as having stage IVB diffuse large B-cell lymphoma and lymphoma-associated HLH.\nThe HLH-2004 protocol of etoposide and dexamethasone was administered for a month, after which treatment was switched to the standard R-CHOP (rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone) protocol. During the 7-month R-CHOP administration, her symptoms improved, with no significant changes on head MRI ( Figure 1 ). On the 7th month, lymphoma was found on PET-CT, and methotrexate was administrated. However, a month later, the headache recurred, and the lesion in the left occipital lobe was found to be enlarged ( Figure 1 ). Therefore, Bruton's tyrosine kinase inhibitor (BTK), rituximab, pirarubicin (THP), and cytarabine (Ara-C) were added, and autologous stem cell transplantation was performed. At 1 month later, the lesions decreased on computed tomography (CT), and the edema around the lesions significantly diminished. To date (follow-up for more than 2 years), the patient has improved well, without new lesions on imaging.",
"gender": "Female"
},
{
"age": 63,
"case_id": "PMC11298385_02",
"case_text": "A 63-year-old woman presented with episodic left-sided facial convulsions, salivation from the corner of the mouth, and unresponsiveness without any apparent trigger. She experienced seizures four to five times a day lasting approximately 5 to 6 min, without limb jerking or incontinence. After the seizures, she regained consciousness, but the process could not be recalled. Head CT revealed a low-density lesion in the right temporal lobe, and antiepileptic treatment was administered; however, there was a slight improvement. Positron emission tomography (PET)-CT performed at the local hospital (data unavailable) showed multiple nodules with diminished glucose metabolism in the bilateral temporal lobes, with predominance in the right lobe. Patches of low-density edema were observed around the lesions. The patient visited our hospital on the 10th day.\nOn physical examination, she was found to have diminished pharyngeal reflexes, left-sided sensation, and bilateral heel-to-knee and finger-nose tests. The patient scored 25 on the Mini-Mental State Examination (MMSE) and 20 on the Montreal Cognitive Assessment (MoCA). Electroencephalography (EEG) showed irregular medium-amplitude theta activity in the background, with intermittent single prominent background spike waves. The MRI results showed multiple abnormal signals in the temporal insula bilaterally ( Figure 2 ). Serological analysis revealed the following: Hb, 119 g/L; RBC, 3.36 x 1012/L; Plt, 172 x 109/L; lactate dehydrogenase, (LDH) 473 U/L (range: 120-250 U/L), and adenosine deaminase (ADA), 42.3 U/L (range: 4-22 U/L). Fluctuations in hemoglobin, platelets, and neutrophils are shown in Figure 2 . The tumor biomarkers, including neuron-specific enolase (NSE), alpha-fetoprotein (AFP), cancer antigen 19-9 (CA19-9), and cytokeratin 19 fragment (Cyfra21-1), were all negative. The CSF was colorless and clear, with 4 x 106/L of WBC and 623 mg/L of proteins. The CSF shared oligoclonal bands with the serum (type IV). Anti-CASPR2 was positive (1:30) in both the CSF and serum on the CBA, whereas the other AE antibodies were negative. As such, the patient was diagnosed with AE, while PNS was suspected.\nThe patient was treated with steroids, immunoglobulin, and antiepileptics, achieving an improvement in facial convulsions, and was discharged after steroid dosage adjustment. However, on the 100th day, the symptoms recurred and worsened, with novel presentations of unstable walking, slurred speech, choking during drinking, intellectual impairment, and splenomegaly. The patient scored 18 on the MMSE and 14 on the MoCA scale. The EEG showed predominantly slow background waves and diffuse slow waves. On MRI, the previous lesions had shrunk with old hemorrhagic foci, but new abnormal signals were found in the bilateral paracingulate gyri ( Figure 2 ). The serology results revealed the following: Hb, 85 g/L; RBC, 3.02 x 1012/L; Plt, 119 x 109/L; LDH, 1,342 U/L; NSE, 105.3 ng/mL (range: <20 ng/mL); sCD25, 9,861 U/mL; serum ferritin, 2,078.25 ng/mL, and positive EBV DNA. The bone marrow cytology revealed phagocytosis; however, no abnormal lymphocyte was found on biopsy. Anti-CASPR2 was negative in the serum on CBA, and the CSF was only weakly positive by TBA. Therefore, the patient was diagnosed with HLH, suspected to be caused by EBV-positive lymphoma, and was treated with the HLH-2004 protocol of etoposide and dexamethasone.\nAfter 1 month of chemotherapy, no seizures were observed, the symptoms improved, and the abnormal signals decreased on MRI ( Figure 2 ). On the 280th day, a bone marrow biopsy revealed lymphocytic infiltration between the bone trabeculae. The results of immunohistochemistry are listed as follows: MPO (myeloid cells +), CD61 (megakaryocytes +), CD71 (erythroid cells +), CD117 and CD34 (few cells +), CD3 (focal T cells +), CD20 and CD19 (+), p53 (approximately 20%, moderately or weakly positive), CD10 (+), c-Myc (approximately 50% +), MUM1 (few cells +), BCL2 (few cells +), BCL6 (+), Ki-67 (approximately 80% +), CD5 (+), and cyclin D1 (few cells +). As assessed by hematologists, this case was considered as B-cell lymphoma stage IVB, but a definitive immunophenotypic diagnosis of the lymphoma type remained unclear. Furthermore, the lesions with foci of malacia decreased in size, and no new lesions were found on MRI ( Figure 2 ). Subsequently, R-CHOP was administered; at the final follow-up after treatment with R-CHOP, she scored 22 on the MMSE and 17 on the MoCA, and no lymphoma was found on a bone marrow biopsy.",
"gender": "Female"
},
{
"age": 36,
"case_id": "PMC11298385_03",
"case_text": "A 36-year-old woman who had undergone myomectomy was admitted to a local hospital for mental and behavioral abnormalities after experiencing a cold, with blurred vision, decreased comprehension, calculation, orientation, memory, and judgment, slowed movements, tense limbs, increased salivation, recurrent fever, and convulsions. On the 4th day, the patient tested positive for anti-N-methyl-D-aspartate receptor IgG (anti-NMDAR, 1:100) and negative on next-generation sequencing (NGS) of the CSF. No significant changes were observed on MRI. Therefore, the patient was diagnosed with AE and was treated with immunoglobulin (20 g/day for 5 days) and methylprednisolone (1,000 mg/day for 5 days, tapered to 250 mg/day). After shock therapy, the EEG result showed diffuse delta waves in the background, while the MRI result showed spots of abnormal signaling in the right radial crown. Anti-NMDAR test (1:100) and NGS were performed as previously described.\nThe patient was transferred to our hospital on the 17th day after onset. A physical examination revealed the following: T, 38.4 C; P, 90 times/min; R, 26 times/min; and BP 147/75 mmHg. Furthermore, she was observed to exhibit involuntary twitching of the corners of her mouth, increased muscle tone, involuntary movements of the extremities, and stiff neck. A serological analysis revealed the following: WBC, 10.83 x 109/L; pH, 7.419 (range: 7.35-7.45); partial pressure of carbon dioxide (PaCO2), 48.5 mmHg (range: 35-45 mmHg); base excess (BE), 6.3 mmol/L (range: 0 +- 2.3 mmol/L); fibrinogen, 1.90 g/L (range: 2.00-4.00 g/L); and D-dimer, 1.37 mg/L (range: 0-0.5 mg/L). Only Staphylococcus epidermidis was detected in blood cultures. No significant abnormalities were found in other examinations, including in the liver, kidney, lactic acid, infection, or tumors. Urine analysis revealed 0.5 g/L of protein (range: 0-0.1 g/L), 2 mmol/L ketone bodies (range: 2.0-4.0 mg/L), and 100/muL of RBC (range: 0-5/muL). However, the EEG was severely abnormal, and chest CT showed bilateral pneumonia.\nThe patient was treated with antiepileptics, anti-infection agents, steroids, immunoglobulin, immunoadsorption (five times), rituximab (twice on the 22nd and 29th days), and electrolyte maintenance. A lumbar puncture was performed on the 33rd day, with subsequent CSF analysis revealing the following: 1 x 106/L WBC, 8 x 106/L RBC, 100 mg/L proteins, 3.28 mmol/L glucose, and positive TBA results. The MRI showed no change. Electromyography (EMG) showed rare F-waves in the right median and bilateral tibial nerves, while PET-CT showed decreased glucose metabolism in the bilateral occipital lobes, inflammation in the bilateral lower lungs, thickened pleura, and adhesions. The serum examination was repeated a week later, revealing the following: 0.90 x 109/L WBC, 113 g/L Hb, 81 x 109/L PLT, 624 U/L alanine aminotransferase (ALT), 595 UL aspartate aminotransferase (AST), 159 U/L gamma-glutamyltransferase (GGT), 769 U/L LDH, 5.6 umo1/L of total bilirubin, 941.37 g/m of ferritin, 1.14 g/L of fibrinogen, and 5,005.00 U/mL of sCD25. As bone marrow biopsy showed increased T-cells and hemophagocytes, the patient was considered to have HLH and was treated with the etoposide-based HLH-2004 protocol in addition to the hepatoprotective and anti-infection symptomatic treatment. However, the patient soon presented with nasal necrosis and a fungal infection. Although she was treated with antifungal therapy, including vancomycin, cefoperazone sodium, tazobactam sodium, and posaconazole tablets, her condition progressed rapidly, with continuously expanding nasal necrosis and a peak fever of 40 C. Immunoglobulin and recombinant human granulocyte colony-stimulating factor (rhG-CSF) were also ineffective. The duration from onset to death was 2 months.",
"gender": "Female"
}
] |
PMC11298385
|
[
{
"age": 10,
"case_id": "PMC11345106_01",
"case_text": "A 10-year-old right-handed girl with no past medical histories presented with chronic headache. Brain magnetic resonance (MR) images showed a mass lesion in the left cerebellopontine angle. Restricted diffusion on diffusion-weighted images suggested epidermoid cyst (Fig. 1A and B). MR angiograms performed four times during the preoperative follow-up period showed normality. Resection was performed via a left subtemporal transtentorial approach due to slow growth observed over a period of 20 months during imaging surveillance. The tumor had a pearly white appearance (Fig. 1C, D). After performing piece-meal resection of the tumor within the capsule, the capsule was completely removed. The capsule did not adhere to the brainstem or any cerebral nerves. Irrigating the tumor cavity was intentionally avoided to prevent the spread of tumor contents. Postoperative brain computed tomography (CT) scans showed no intracranial hemorrhage or other abnormalities. The final pathological diagnosis was epidermoid cyst (Fig. 1E).\nAfter recovering from anesthesia, she was neurologically intact and was transferred to the intensive care unit for monitoring. On the first postoperative day (POD), she developed a fever without signs of meningeal irritation and was transferred to a general ward. Her fever lasted for 5 days, up to 39.0 C. On POD 2, she exhibited reduced speech, confusion, and hyperventilation. Venous blood gas analysis showed a carbon dioxide partial pressure and pH of 23.9 mm Hg and 7.576, respectively. Brain CT scans were normal. On POD 4, she developed right hemiparesis and motor dysphasia. Delayed venous infarction due to the surgical manipulation was suspected and brain MR imaging was performed. Diffusion-weighted images showed extensive restricted diffusion areas in her left temporal and parietal lobes, as well as the dorsal thalamus (Fig. 2A-D). There was no residual tumor. Cerebral MR angiograms showed narrowing of the distal internal carotid arteries and proximal middle cerebral arteries (Fig. 2E-G). Cerebral MR venograms showed no evidence of venous infarction comparing pre and postimages (Fig. 2H-K). Blood testing for vasculitis and thrombosis disorders was negative. Therefore, cerebral vasospasm by the spillage of the tumor contents was speculated. Lumbar puncture, a psychologically highly invasive procedure, was avoided due to consideration of hyperventilation as a potential cause of ischemia. Conservative management, such as intravenous hydration and administration of corticosteroids and free radical scavengers, was initiated immediately. The following day, her right hemiparesis disappeared. On POD 8, repeat brain MR angiograms showed that the extensive restricted diffusion areas notably decreased in size (Fig. 3A-E). Her right hemiparesis was completely resolved, and her motor dysphasia gradually improved over time. Systemic corticosteroids were gradually tapered over a period of 1 week. On POD 20, brain MR angiograms showed complete resolution of vasospasm (Fig. 3F). She experienced minor reading and speech problems. She was transferred to a rehabilitation institution. At the 1-year follow-up, no radiological recurrence of the tumor or vasospasm was observed. However, the difficulty of understanding, suggestive of transcortical sensory dysphasia, persisted, and she needed additional support for her hearing impairment while attending school.",
"gender": "Female"
}
] |
PMC11345106
|
[
{
"age": 18,
"case_id": "PMC10998253_01",
"case_text": "Intestinal malrotation can be described as a congenital anomaly of the intestinal rotation and fixation at some stage in the improvement of the foetus. This anomaly is caused by partial or complete failure of 270-degree counterclockwise rotation of midgut around superior mesenteric vessels in foetal life. These rotation anomalies can lead to complications, sometimes life-threatening events, which usually occur during the period of neonatal or pediatric age. The fact that this pathology is exceptional in adults and that its symptomatology is quite variety can be the source of many errors and delays in diagnosis and therapeutic. Ladd first described the procedure to treat malrotation and volvulus in 1932 and since then it has been the definitive treatment for intestinal malrotation. We present a case of an 18-year-old female admitted for small bowel obstruction due to an intestinal volvulus complicating an intestinal malrotation in the presence of Ladd s band, operated in emergency for which we performed a Ladd procedure. The postoperative evolution was favorable.",
"gender": "Female"
},
{
"age": 18,
"case_id": "PMC10998253_02",
"case_text": "Patient information: an 18-year-old woman, without any particular pathological history, presented to the emergency department of the Ibn Sina Hospital (Rabat, Morocco), with a three-day history of abdominal distension. She also complained of flatus and a three-day incapacity to defecate.\nClinical findings: the clinical exam revealed vital signs within normal range. The abdominal region looked distended. Auscultation bowel sounds had been reduced, and hyper resonant sounds were positive on percussion. A digital rectal exam revealed an empty trunk.\nTimeline of current episode: there was a history of intermittent constipation and abdominal pain in the past two years.\nDiagnostic assessment: blood count was normal, biochemical studies showed slightly increased urea and creatine. The abdominal scan showed dilatation of the small bowel in addition to the whirl sign, without any signs of intestinal necrosis. The radiologist suggested a primary diagnosis of intestinal volvulus in combination with incorrect intestinal rotation (figure 1).\nTherapeutic interventions: emergency surgery was performed, with an exploratory laparotomy. This laparotomy was set up an intestinal and mesenteric volvulus (figure 2), many visceral adhesions and Ladd s band (figure 3), in addition to an intestinal malrotation (figure 4). Ladd's procedure was carried out to alleviate bad intestinal rotation. The method entails counterclockwise diversion of the bowel, surgical division of Ladd's bands, widening of the small intestine mesentery, acting an appendectomy, and reorientation of the small bowel on the proper and the colon at the left of the abdominal cavity (figure 5).\nFollow-up and outcome of interventions: the patient recovered successfully and was released on day two post-op. There was no recurrence of symptoms after a one-year follow-up.\nPatient perspective: the patient provided her perspective on the treatment, stating that she is not experiencing any symptoms and may return to normal activity.\nInformed consent: the patient consented with knowledge to the release of his clinical data. The presented facts are anonymized, and the threat of identification is minimum.",
"gender": "Female"
}
] |
PMC10998253
|
[
{
"age": 3,
"case_id": "PMC10614021_01",
"case_text": "Two patients with sJIA underwent allo-HSCT at our center.\nPatient 1 was diagnosed with sJIA at 3 years old (Table 1). She was assessed at our center 1.4 years after her initial diagnosis and remained on moderate/high doses of corticosteroids (CS). The decision to proceed to allo-HSCT was based on ongoing disease activity refractory to eight lines of therapy as well as severe disease/treatment-related complications (Table 1 and Figure 1). She developed numerous thoracolumbar vertebral compression fractures and extensive (T2-sacrum) epidural lipomatosis leading to severe spinal stenosis/spinal cord compression. Three months before HSCT, decompressive laminectomy/surgical lipomatosis excision was performed. In an effort to wean CS to the lowest possible dose, a course of fludarabine was administered 2 and 1 month prior to transplant. Despite this, her disease remained clinically/biologically active. Levels of interleukin-18 (IL-18) or other cytokines were not performed. Genetic panels for familial hemophagocytic lymphohistiocytosis (fHLH) and autoinflammatory disorders were performed prior to HSCT and were negative.\nAllo-HSCT was performed 1.8 years after her initial diagnosis (Table 1). Within the first 24 h, patient 1 developed life-threatening symptoms, including fever, elevated inflammatory markers, and hypotension requiring hemodynamic support. In the following 5 months, she experienced multiple episodes of polyarthralgia and erythematous rash, initially associated with fever and elevated inflammatory markers, that were very similar to her sJIA flares. Methylprednisolone was added to her IS regimen. She improved and tolerated CS weaning. The underlying etiology of these inflammatory episodes was never confirmed. She had numerous non-inflammatory-related complications from which she recovered without sequelae. Corticosteroids and all other IS medications were stopped at 5 and 14 months post-HSCT, respectively. At 5.6 years post-allo-HSCT, she remains in CR off IS medications with full donor chimerism.\nPatient 2 was diagnosed with sJIA at the age of 4 years old (Table 1). He was on moderate/high doses of CS since his diagnosis (3.8 years) (Figure 2). Severe/refractory disease and disease/treatment-related complications prompted consideration for allo-HSCT. Patient 2 had developed severe steatohepatitis. Extensive polyarthritis had resulted in significant restrictions, requiring the use of a wheelchair. The level of IL-18 was measured once 8 months prior to HSCT during a phase of active systemic and joint disease and was elevated (18,095 pg./mL). Genetic testing for fHLH did not reveal explanatory variants. As for patient 1, a course of fludarabine was started 1 month pre-HSCT, and this enabled a decrease in CS pre-transplant.\nAt the time of allo-HSCT, patient 2 was 7.5 years old with a disease duration of 3.8 years (Table 1). No major complications occurred during HSCT. He experienced episodic polyarthralgia in the first 3 months following HSCT. All IS medications were stopped 10 months post-transplant. One month later, he experienced a first disease flare (quotidian fever, polyarthritis, elevated inflammatory markers). This flare was concomitant with a decrease in whole blood (WB) donor chimerism (99% at day+24, and 88% at the time of flare) as well as an increase in serum EBV DNA (5,623 log10 copies). He received a single pulse of methylprednisolone (30 mg/kg), was restarted on cyclosporin/tofacitinib, and had a course of rituximab. He responded rapidly to this treatment and re-achieved CR. His WB donor chimerism increased to 95%. Cyclosporin/tofacitinib was again stopped at 2.1 years post-HSCT. He had a second disease flare (polyarthritis without systemic symptoms) at 2.3 years post-HSCT. Whole blood, CD3+ T cells, and neutrophil donor chimerisms were at 93%, 86%, and 98%, respectively. This second flare was also associated with an increase in serum EBV DNA (35,481 log10 copies). Tofacitinib was reintroduced, and a second course of rituximab was given. Again, he showed major improvement over the following months. He developed a SARS-CoV2 infection 2.8 years post-HSCT, and 1 month later he presented with a third disease flare (polyarthritis without systemic symptoms). Whole blood donor chimerism at that time was stable (94%). Serum EBV DNA was undetectable. Despite an increase in the dose of tofacitinib, his polyarthritis remained, and he was thus started on adalimumab (3.2 years post-HSCT). He showed gradual improvement and attained CR on medication 3.8 years post-HSCT. Tofacitinib was stopped. At the most recent follow-up appointment (4 years post-HSCT), his WB donor chimerism was 93%, and he remains in CR on adalimumab monotherapy. More extensive genetic testing is ongoing for monogenic etiology.",
"gender": "Female"
}
] |
PMC10614021
|
[
{
"age": 72,
"case_id": "PMC10789898_01",
"case_text": "We present the case of a 72-year-old female with a 10-year history of recurrent chylothorax with associated lymphedema resistant to initial therapies. During workup for chronic back pain and shortness of breath in 1997, the patient was found to have a pathologic right seventh rib fracture in the location of a cyst. This nonhealing fracture was managed non-operatively for years until she underwent a rib biopsy in 2013 due to concern for fibrous dysplasia, which was complicated by a pneumothorax managed with a chest tube. She developed recurrent chylous pleural effusions that never abated, but she experienced minimal symptoms for the next few years. In 2019, the patient spontaneously experienced increasing right breast and arm swelling, prompting her to visit with multiple cardiothoracic surgeons. Positron-emitting tomography (PET) lymphoscintigraphy documented a lymphatic leak in her right shoulder that communicated with both her right breast and chest. Trialing diuretics, diets, and repeat thoracenteses provided no long-term benefit. With no consensus regarding treatment, she sought input at our institution.\nAll procedures performed in this study were in accordance with the ethical standards of Mayo Clinic and with the Helsinki Declaration (as revised in 2013). Written informed consent for publication of this case report and accompanying images was not obtained from the patient or the relatives after all possible attempts were made.\nAt the time of our initial evaluation, the patient was on a cocktail of medications, including diuretics, inhalers, and opiates. Her lymphedema had mildly improved with compression apparel and a pump, and she denied any leakage from her breast or chest. She experienced dyspnea that prohibited her from walking further than 10 feet without having to stop to catch her breath. Our initial workup included chest CT with intravenous (IV) contrast (Figure 1), ultrasound-guided aspiration of the right breast collection, and magnetic resonance (MR) lymphangiogram of the right breast and bilateral inguinal nodes. Diagnostic thoracentesis revealed an exudative pleural effusion with triglycerides elevated to greater than 2,500 and atypical reactive lymphoid cells negative for malignancy. Microbial analysis was unremarkable. MR lymphangiogram (Figure 2) displayed a diffuse chylous leak into the right pleura spanning T3-11 with abnormal reflux in the T7-T8 intercostal space, resulting in a compensatory lymphatic fistula between the right pleural space and breast with an associated lymphovenous shunt. In light of these findings, our interventional radiology (IR) colleagues opted to proceed with thoracic duct coil and glue embolization around T3-4, as well as IPC placement with right breast aspiration. The patient initially tolerated the procedure well and drained 2.0 L of chyle on the first day.\nOver the next few days, she developed diffuse abdominal peritonitis identified as a distal common bile duct leak via magnetic resonance cholangiopancreatography (MRCP), presumably an iatrogenic complication from her embolization. While there were no complications during the procedure, the access point for thoracic duct embolization occurs through the cisterna chyli and bile leaks are known complications. This was managed with endoscopic retrograde cholangiopancreatography (ERCP) and biliary stenting, and she was subsequently discharged shortly thereafter on antibiotics. Six days after discharge, she developed acute bilateral subsegmental pulmonary emboli that was managed with initiation of apixaban. A month out from IPC placement, the patient presented to the emergency department with a three-day history of fever, decreasing output with a change in character, and worsening shortness of breath. Labs revealed leukocytosis with a neutrophilic left shift and reactive thrombocytosis. She was initiated on broad-spectrum antibiotics and administered lytic therapy (dornase and alteplase) through the catheter, resulting in large-volume output. Pleural fluid cultures grew Staphylococcus epidermidis. She was discharged on antibiotics with a plan for surgical intervention the following week.\nIn coordination with our IR colleagues, we proceeded to a hybrid operating room for thoracoscopy and pleurodesis of the lymphorrhea. Lymphazurin blue and water-soluble contrast were injected under sonographic guidance into the right inguinal and right axillary lymph nodes. This was followed by cone beam CT spin, which did not demonstrate any extravasation into the chest. The patient was placed in left lateral decubitus position and we attempted to enter via the eighth intercostal space, but were unable to differentiate lung from chest wall. Another port was placed in the fifth intercostal space and we immediately visualized dense adhesions, necessitating adhesiolysis via carbon dioxide and camera manipulation. We were able to insert our posterior port and the lung was rotated anteriorly to expose the thoracic duct, which had numerous small orifices weeping copious clear fluid suggestive of chyle (Figure 3). These were sealed with DuraSeal (Integra Life Sciences, Princeton, NJ, USA) and talc. Mechanical pleurodesis augmented with poudrage was performed. Three chest tubes were placed within the cavity and an ultrasound-guided Jackson Pratt (JP) drain was placed in the right breast.\nPost-operatively, a clear liquid diet with a 1.5 L restriction and low-fat total parenteral nutrition (TPN) were initiated. Non-steroidal anti-inflammatory drugs (NSAIDs) were avoided in pain-control to facilitate pleurodesis and furosemide was given for peripheral edema. Chest tubes were maintained on continuous suction and the output slowly decreased over the coming days. On post-operative day 5, all chest tubes were placed to water-seal. Sinogram of the breast drain shortly thereafter showed filling in the lymphatic malformation of the right breast and axilla for which doxycycline sclerotherapy was performed through the drain. On post-operative day 9, one chest tube was removed, TPN was discontinued, and a low-fat diet was initiated. Another chest tube was removed the following day and the final chest tube was removed on post-operative day 12. Repeat sinogram showed persistent lymphorrhea for which we utilized Sotradecol and doxycycline for sclerotherapy, and she was subsequently discharged home with the breast drain in place afterwards. She followed-up with us for weekly sinograms, until the breast drain was ultimately removed one-month post-discharge (post-operative day 45). She has not experienced any reaccumulation of chyle in the chest or breast to date.\nOur management permitted decompression of the breast and prevented reaccumulation of the chylous leaks. The breast tissue returned to a comparable size and appearance as the unaffected side (Figure 4), and her pulmonary function improved drastically. Her medication regimen has decreased to one diuretic and continued opiate use in light of incisional pain attributable to intercostal nerve irritation. Her shortness of breath continues to improve with increasing activity.",
"gender": "Female"
}
] |
PMC10789898
|
[
{
"age": 6,
"case_id": "PMC10601771_01",
"case_text": "A male patient of 6-year-old contacted our clinic. He had been under observation since 3 years old, when a germline mutation S634R in RET gene was detected.",
"gender": "Male"
},
{
"age": 26,
"case_id": "PMC10601771_02",
"case_text": "His mother had undergone surgery several times about MTC in ages 7, 11, 15, 22, and 26 years old. In molecular genetic research of his mother, a germline mutation S634R RET gene was detected, which is responsible for 2A multiple endocrine neoplasm syndrome (MEN 2A). Also, his grandmother on the maternal line and her native brother died at the age of 38 and 37 years because of MTC progression. The presence of S634R mutation in RET gene was also confirmed in the grandmother of the mother's cousin, the proband, and the native sister of the proband.",
"gender": "Female"
},
{
"age": 11,
"case_id": "PMC10601771_03",
"case_text": "Preventive TE with central neck dissection (VI level) was done to a mother's cousin of the proband at the age of 11 years old. MTC was revealed during the histological investigation of removed TG with lymph node metastasis. Preventive TE was performed on the native sister of the proband at the age of 3 years old as well, and MTC was also revealed (Fig. 1).",
"gender": "Unknown"
},
{
"age": 3,
"case_id": "PMC10601771_04",
"case_text": "Since 3 years old, our patient had been under regular exams, including calcitonin level detection and TG ultrasound. At the age of 6, calcitonin level was 8 ng/mL, and there was no evidence of pathology on ultrasound of TG.\nConsidering the patient's subtype of germline mutation, in accordance with ATA 2015 recommendations, preventive TE was planned. This operation was performed by TOETVA.\nThe operation was performed in a prone position with hyperextension in the neck compartment under nasotracheal intubation. In order to avoid, possible infection complications, a preliminary cephalosporin antibiotic of the 1st generation was introduced in dose 500 mg intravenous in 40 min before the operation. Prophylactic antibiotic therapy by the same agent was done in dose 500 mg twice a day in 5 days after the operation. The oral cavity was processed by antiseptic liquids. After, infiltration of mucosa of the mouth vestibule by local anesthetics with sodium chloride was done. The first surgery position was at the head of the patient, in front of the monitor, the second surgery position was on the right of the patient. The approach was done by one 10 mm and two 5 mm ports (Fig. 2). Mental nerve branches, responsible for the sensitivity of chin lower limb, localization should be considered during 5 mm port introduction.\nSubplatysmal space was separated by dissection. In order to form a cavity, CO2 insufflation was used. Work space borders were: upper - larynx, lower - jugular notch, side borders - medial surfaces of sternocleidomastoid muscles of both sides. Sternohyoid muscles are dissected by the middle line in the craniocaudal direction from the mental triangle to the jugular notch and in the lateral direction up to the medial edge of the sternocleidomastoid muscles. After that, the isthmus of TG was crossed. Vessels were crossed as close as possible to TG and parathyroid glands were identified and preserved (Fig. 3).\nNeuromonitoring was carried out. TG was removed in a special container. Elastic neck bondage was used in early postoperative period.\nOral nutrition started on the first day after the operation, and the patient was discharged from hospital on the second day. No major complications, such as hypoparathyroidism and RLN paresis were observed. Only transitory paresthesia and slight edema of submental compartment were noticed, which were resolved independently in 4 weeks (Fig. 4, 5).\nUnder x10 magnification the thyroid tissue is represented by follicles of the same size with eosinophilic colloid in the lumen. Among the follicles, a nonencapsulated tumor is represented by large cells with a wide basophilic cytoplasm and eccentrically located nuclei; tumor cells do not form any structures. The tumor does not grow through and beyond the capsule of the gland. Morphological picture of MTC. An immunohistochemical study was performed with antibodies to calcitonin and diffuse bright cytoplasmic expression of calcitonin was detected (Fig. 6, 7).\nThe patient was treated in our clinic in June 2022 and was fully examined at the time of 3, 6 and 12 months after treatment. Examination included: ultrasound of neck, CT of chest and abdomen, blood calcitonin level. At 1-year checkup point, calcitonin level was undetectable (less than 0.5 ng/mL). No evidence of MTC progression was noticed. Clinical and biochemical remission were achieved.",
"gender": "Unknown"
}
] |
PMC10601771
|
[
{
"age": 73,
"case_id": "PMC10908569_01",
"case_text": "Case: A 73-year-old obstetrician-gynecologist presented to an orthopedic surgeon with a complaint of pain on motion and tenderness in the right thumb CMC joint and was diagnosed with CMC osteoarthritis. X-ray images showed a narrowing of the joint space, and the severity of the disease was classified as stage II according to the Eaton-Littler classification using X-rays (Figure 1). Despite the administration of anti-inflammatory analgesics and restriction of movement with a soft orthosis brace, the pain did not abate even after 6 months.\nTreatment: The right hand (affected side) was bathed once daily in CO2-enriched water for 20 min. Commercial carbonated water was used for this treatment (Figure 2). To exclude the effects of components other than carbonation, I chose commercial carbonated water without fruit juice or flavorings and opted for pure carbonated water. Initially, its temperature was approximately 37 C. It was then heated indirectly by filling the basin with hot water and placing a polyethylene terephthalate bottle of commercial carbonated water in it.\nEvaluation: The pain was evaluated using a visual analogue scale.",
"gender": "Unknown"
}
] |
PMC10908569
|
[
{
"age": 22,
"case_id": "PMC10538561_01",
"case_text": "In the studied family, the proband, a 22-year-old man, and his 20-year-old brother were born of non-consanguineous parents. Both patients exhibit normal intelligence, devoid of any other neurological symptoms, and no sign of further deterioration to date.\nThe proband was admitted to Wuhan Union Hospital because of dyspnea, abdominal distention, and polyserositis, with progressive muscle weakness since the age of 13 years. Biochemical examination showed elevated CK at 11,933 U/L, aspartate transaminase (AST) of 164 U/L, alanine aminotransferase (ALT) of 202 U/L, and N-Terminal Pro-Brain Natriuretic Peptide (NT-pro BNP) of 9,835 pg/ml. Admission electrocardiography (ECG) showed sinus rhythm with a heart rate of 95 beats/min, deep and narrow Q waves in leads I, aVL, and V5 to V6 (Figures 1A,B). The two-dimensional transthoracic echocardiography (TTE) examination revealed prominent trabeculations and deep intertrabecular recesses of the left ventricular (LV) walls and apical areas (Figure 1C). The non-compacted myocardium of the inferior wall apical segment measured 1.8 cm while the compacted myocardium was as thin as 0.4 cm and the systolic non-compacted to compacted ratio was more than 2.0. Echocardiography also demonstrated that the proband had increased LV end-systolic volume (ESV, at 119 ml), LV end-diastolic diameter (LVEDD, of 7.3 cm), and left atrium end-systolic diameter (LAESD, of 4.9 cm) with reduced LV ejection fraction (LVEF, 23%). Notably, color flow imaging showed blood flow in intertrabecular recesses (Figure 1D). Furthermore, the diagnosis of LVNC was verified by cardiac magnetic resonance (CMR). The heart was significantly enlarged on CMR imaging, and distinct trabeculations were localized on the lateral wall, inferior wall, and part of the anterior wall, as well as at the apex (Figures 1E,F). Furthermore, the diastolic non-compacted to compacted ratio was more than 2.3, which was consistent with the diagnosis of LVNC confirmed by TTE.\nSignificantly, the proband showed typical clinical features with progressive proximal limb muscle atrophy and calf muscles pseudohypertrophy (Figures 2A,B). The electromyogram (EMG) of the proband revealed a myogenic lesion. In order to comprehensively evaluate muscle pathology, light microscopy (LM) and electron microscopy (EM) examination were performed. Pathological specimens were obtained from the right quadriceps muscle biopsies of the proband. LM study with hematoxylin-eosin (HE) staining and immunohistochemical (IHC) staining demonstrated variation in muscle fiber size accompanied by atrophy of muscle fibers, hypertrophy of muscle fibers, partial degeneration of muscle fibers with interstitial fibrosis, and adipose tissue infiltration (Figures 3A,B). EM examination showed swollen mitochondria, expanded sarcoplasmic reticulum, focally dissolved myofilaments, and a few atrophied muscle fibers, without abnormal deposits (Figures 3C,D).\nUnexpectedly, as the primary caregiver during hospitalization, his younger brother showed proximal limb muscle atrophy and calf muscles pseudohypertrophy similar to the proband (Figure 2C). Based on these findings, further investigations on the younger brother were carried out. Biochemical examination showed elevated CK (3,826 U/L) and TTE indicated LVNC with a dilated left ventricle (6.6 cm) as well as reduced LVEF (25%), although the younger brother did not complain of any cardiac symptoms.\nConsequently, we suspected that both siblings suffered from hereditary muscular dystrophy and familial dilated cardiomyopathy. To confirm the diagnosis, we performed high throughput targeted NGS analysis on genomic DNA samples obtained from the proband with a customized panel encompassing 29 genes involved in the pathogenesis of hereditary muscular dystrophy. The DNA library was prepared using the KAPA Hyper Prep Kit (KAPA Biosystems), followed by target enrichment based on a probe library (Roche NimbleGen SeqCap EZ Choice). Finally, the products were analyzed by NGS using the Illumina platform, MiSeq. Results indicated a deletion of exons 10-12 (EX10_12 del) in the DMD gene (reference sequence NM_004006.2) (Figure 4A), affecting the normal expression of dystrophin. Moreover, we confirmed the deletion of the same exons in the DMD gene in his younger brother by qPCR (Figure 4B).\nAfter discharge from the hospital, the proband was on long-term treatment with a beta-blocker, a diuretic, coenzyme Q10, and an angiotensin-converting enzyme inhibitor (ACEI). However, he required repeated hospitalization for heart failure, with gradually worsening muscle weakness, over the following 4 years. Finally, at the age of 26, he underwent orthotopic heart transplantation and has remained in good condition since transplantation.",
"gender": "Male"
}
] |
PMC10538561
|
[
{
"age": 45,
"case_id": "PMC11340847_01",
"case_text": "A 45-year-old female patient presented with a major complaint of a slow-growing, painless swelling on the left side of her face that had been present for 25 years. The swelling was initially small in size and has gradually grown to its current size over time. Past medical and surgical history was irrelevant. An extra-oral clinical assessment found significant facial asymmetry. On the left side of the face, a well-defined, ovoid, multi-lobular swelling of 13 cm x 10 cm was observed.\nThe swelling had the superoinferior extent 2 cm below the ala-tragal line to the clavicular region and the anteroposterior extent from the midline of the neck to the anterior border of the trapezius. The left ear lobule was everted giving one of the typical signs. Loss of wrinkling of the skin and engorged veins was also seen on the surface of the swelling [Figure 1]. The swelling was firm in consistency, non-tender and slightly warm on palpation. The intraoral examination discovered no notable findings. The growth was concealed by intact healthy mucosa. On bimanual palpation, the mass could be felt between the buccal mucosa and the skin, but it was not attached to any deeper tissues. Milking of the gland showed lesser saliva secretion. The mouth opening was satisfactory. The opening of Stenson's duct was present in the normal position. Signs of Bell's palsy were noted on conducting facial nerve examination. A left parotid gland benign tumour was proposed as a preliminary diagnosis. The tumour's size of 13 cm x 10 cm was measured and recorded [Figure 2].\nComputed tomography (CT) showed a large mass in the left neck. It was predominantly solid and showed uneven enhancement [Figure 3]. A strong enhancement focus of 13 cm x 10 cm was noted on its inferior and medial sides. The lesion did not involve the sternocleidomastoid muscle, carotid artery, left submandibular salivary gland or mandible. The lesion had an arterial supply from the facial artery and venous drainage through the internal jugular vein. Fine-needle aspiration cytology (FNAC) was performed under local anaesthesia (LA), which showed admixed epithelial, myoepithelial and mesenchymal tissue elements. Since incisional biopsy of PA may predispose to recurrence, it is contraindicated in our case.\nThe patient was hospitalised and the procedure was well explained to her. After obtaining informed consent from the patient, under general anaesthesia and all aseptic precautions, the usual painting and draping were carried out and the incision line was marked. A modified skin incision was placed. Soft tissues were carefully dissected in a clear plane to prevent injury to the adjacent vital structures [Figures 4-6]. After identifying the anterior greater auricular nerve in the preauricular area, it was sacrificed. Further care was taken for the identification of the main branch of the facial nerve and the tumour along with the gland was excised completely along with some normal skin [Figure 7]. The resected tumour which measured approximately 13 cm x 10 cm with an irregular surface was sent for a final histopathological examination. A nasogastric tube was used to feed the patient for three days. Antibiotics and local Betadine were administered as part of the post-operative treatment.\nThe patient was then discharged after three days. Histological examination showed it to be a PA of her left parotid gland. Layers of epithelial cells and well-encapsulated cell masses of islets and rounded myoepithelial cells were evident, along with a myxomatous background and ductal architecture [Figure 8]. The postoperative follow-up was uncomplicated. The patient has been followed up annually, has shown no signs of recurrence and has had no adverse or unanticipated events [Figure 9].",
"gender": "Female"
}
] |
PMC11340847
|
[
{
"age": 62,
"case_id": "PMC11334133_01",
"case_text": "A 62-year-old man exhibited a right hilar tumor on screening chest radiography. Surgery was indicated upon diagnosis of right upper-lobe lung cancer (cT3N1M0 stage IIIA) via endobronchial ultrasound-guided transbronchial fine-needle aspiration. The tumor that had invaded neighboring lymph nodes (10 and 11 s), was extensively connected to the bronchus of the right upper lobe, necessitating bronchoplasty (Figure 1(a)). Contrast-enhanced computed tomography with 3D reconstruction showed compression of A1+3 and A2 by the tumor (Figure 1(b)). No metastasis to N2 lymph nodes was identified, allowing radical resection without neoadjuvant therapy. The patient was positioned in the left lateral decubitus position for muscle-sparing thoracotomy. Compression by the tumor and gravitational effects made it challenging to encircle A1+3 and A2.\nMoreover, sufficient control could not be established by mobilizing the SVC after dividing the azygos vein. Therefore, the thoracotomy was extended anteriorly to the level of the right internal thoracic artery, allowing for adequate SVC mobilization and subsequent encirclement of the right main pulmonary artery. The pulmonary artery was encircled distally from the bifurcation of A2. The proximal and distal sides of the pulmonary artery were clamped, and A1+3 and A2 were divided. The bronchus of the right upper lobe was dissected using a deep-wedge technique, and bronchoplasty was performed without significant difficulty (Supplemental Video 1). Postoperative recovery was uneventful; however, chest drainage was monitored closely due to slightly increased output. The chest tube was removed on postoperative day 2, and the patient was discharged on postoperative day 9.",
"gender": "Male"
},
{
"age": 56,
"case_id": "PMC11334133_02",
"case_text": "A 56-year-old man had suspected right upper-lobe lung cancer (cT1aN0M0 stage IA1) based on screening chest radiography and computed tomography (Figure 2(a)). Diagnosis and treatment involved surgery through a left-down lateral decubitus position using three-port video-assisted thoracoscopic surgery. Intraoperative frozen sections confirmed the diagnosis of lung adenocarcinoma. Following the dissection of A3, accidental bleeding was noted while dividing A1+recurrent A2, necessitating thoracotomy (Figure 3(a) and (b)). However, the bifurcation of A1+recurrent A2 was proximal to the right main pulmonary artery trunk (Figure 2(b)), making it difficult to isolate and encircle the proximal region of the A1+recurrent A2 when the bleeding area was compressed. Consequently, an approach encircling the right main pulmonary artery was adopted. The thoracotomy was extended anteriorly to the level of the right internal thoracic artery, and the right main pulmonary artery was encircled between the SVC and ascending aorta (Figure 3(c)). After successfully controlling bleeding, A1+recurrent A2 was managed. The surgery proceeded uneventfully with successful right upper lobectomy and lymph node dissection. Postoperative recovery was smooth, with chest drain removal on the first postoperative day, and the patient was discharged on postoperative day 8.",
"gender": "Male"
}
] |
PMC11334133
|
[
{
"age": 30,
"case_id": "PMC11152551_01",
"case_text": "A 30-year-old female presented with 3 months of low back pain. Previously, urology had partially resected an undefined tumor in the peritoneal cavity. When she still complained of low back pain postoperatively, a lumbar MR was performed. It revealed a right-sided intra/paraspinal retroperitoneal hypointense mass on the T1-weighted and inhomogeneous hyperintense lesion on the T2-weighted study that was homogeneously enhanced with contrast [Figures 1 and 2]. The lesion compressed the lateral/foraminally exiting L1-L3 nerve roots and the right kidney. She underwent an L1-L3 gross total surgical excision. Macroscopic features of the tumor can be seen in Figure 3.\nThe histopathology was consistent with a benign schwannoma. Slides revealed partial palisading/cells arranged in longitudinal/transverse bundles containing monomorphic features, medium cytoplasm, and round and/or oval spindle nuclei. To confirm the findings, S100 immunohistochemistry demonstrated high-intensity positive staining of the nucleus/cytoplasm involving most tumor cells. Additional spinal muscular atrophy staining of tumor cells was negative. Microscopic features of the tumor can be seen in Figure 4.\nThe patient had less pain on the 1st day following the postoperative day, and all symptoms/signs resolved within 1 week. At 3 postoperative months, she remains disease-free.",
"gender": "Female"
}
] |
PMC11152551
|
[
{
"age": 43,
"case_id": "PMC11249398_01",
"case_text": "Ms. VA, a 43-year-old married female with a Bachelor of Technology degree (B. Tech.), employed as a manager in a multinational company, of middle socio-economic status, came with diagnoses of hypoxic ischemic encephalopathy with small chronic infarcts and gliosis in the bilateral cerebellar hemisphere, myoclonic seizures, mild cognitive impairment (MCI), generalized dystonia, and bronchial asthma. The patient was also diagnosed with depression. All diagnoses were made as per the international classification of diseases ICD-11.\nShe felt apparently well until July 2016, when suddenly she experienced an attack of asthma. When she realized that she needed medical attention, she called her parents to take care of her children, refusing to leave them alone. Her situation deteriorated, and she experienced cardiac arrest at the hospital. Following an emergency surgery, she slipped into a coma that lasted three weeks.\nAfter her stay in the hospital, she spent the next two years recovering and collaborating with medical professionals such as neurologists, cardiologists, pulmonologists, and physiotherapists taking care of her physical health. At the time of referral, she was experiencing difficulty with walking and used a wheelchair. She was unable to carry out her activities of daily living independently and had not been able to return to work. She was referred to the current hospital, which is a tertiary care hospital for mental health, by a friend who had undergone a similar experience and sought treatment from the author at the end of 2018. She consulted the clinical neuropsychology unit at the current hospital primarily for a neuropsychological evaluation and treatment as she was experiencing difficulties with concentration and mood-related concerns, such as lack of motivation, energy, and interest in carrying out the activities of daily living, as well as adjusting to her post-ABI limitation. In January 2019, she underwent a neuropsychological assessment and a cognitive retraining program was initiated.\nThe patient had a history of childhood bronchial asthma. Academically, she was a high achiever. She had chosen mechanical engineering as her major, where she was the only female student in her class. Occupationally, she took on a leadership role at the multinational organization that she was working in after graduation and was in the midst of launching a new product when the attack occurred. She was in a romantic relationship during graduation, which culminated into marriage. She lives with her husband and her two daughters.\nThe patient was highly competitive and often compared herself to others. She had type A personality traits, was a perfectionist, and had high expectations for herself and others. She would rigidly follow routines, and she seemed to derive her self-worth from her academic performance. Her hobbies included cooking and participating in adventure sports such as sky-diving, where she displayed perfectionist traits as well. She was able to make and maintain long-lasting friendships.\nThe patient is the first child, born into a non-consanguineous marriage. Her parents were high achievers and had high expectations for her. The father believed in strict parenting. Switchboard communication was the norm, as she would communicate via her mother to her father.\nThe patient was diagnosed with the following conditions:\nBronchial asthma: Currently, she is not taking any medications. She uses an inhaler for emergencies.\nHypoxic ischemic encephalopathy with small chronic infarcts with gliosis in the bilateral cerebellar hemisphere, myoclonic seizures, and generalized dystonia: These conditions are managed with medications by the neurology team at another hospital. Details of the medication are currently unavailable. She was also undergoing physiotherapy for gait improvement. She used traditional healing practices such as Ayurveda, as well.\nMild cognitive impairment (MCI): Twelve sessions of cognitive retraining were undergone based on the neurocognitive deficits identified through a neuropsychological assessment.",
"gender": "Female"
}
] |
PMC11249398
|
[
{
"age": 19,
"case_id": "PMC10992671_01",
"case_text": "A 19-year-old male patient was transferred to our hospital from a lower hospital with the aid of extracorporeal membrane oxygenation (ECMO). This patient presented with a high fever, shortness of breath, and mental changes for approximately 12 hours after surgery for appendicitis. Appendicular perforation with peritonitis was detected on abdominal computed tomography (CT) when the patient was admitted to a lower hospital with metastatic right lower quadrant pain, high fever, nausea, and vomiting. An appendectomy was performed immediately. After surgery, the patient's blood pressure remained low (mean arterial pressure < 60 mmHg) under continuous norepinephrine and dopamine treatment, fluid resuscitation, and antibiotic therapy. Laboratory test results revealed the following parameters: a white blood cell count of 3.44 x 109/L, a neutrophil ratio of 80.4%, procalcitonin (PCT) > 100 ng/mL, creatine kinase (CK) at 2849 U/L, high sensitivity troponin (hs-TnT) at 136 ng/L, and N-terminal pro-brain natriuretic peptide (NT-proBNP) at 8713 pg/mL. Echocardiography showed cardiac insufficiency, left ventricular enlargement, weakened wall activity, an EF of 20%, and normal valvular activity. Cardiogenic shock was considered. Veno-Arterial Extracorporeal Membrane Oxygenation (VA-ECMO) was initiated immediately, and the patient was transferred to our hospital.\nOn admission, the patient's blood pressure was 89/50 mmHg (norepinephrine was administered at 1 ug/kg/min), and the heart rate was 138 beats per minute, the pulse oxygen saturation (SPO2) under invasive mechanical ventilation was 99%. Confusion was observed in the patient, and moist rales were heard in both lungs. The patient expressed pain on abdominal palpation, and the abdominal muscles were slightly tense. The abdominal drainage fluid was yellowish, and his extremities were clammy. Laboratory tests showed that the white blood cell count was 1.44 x 109/L, the neutrophil ratio was 85.4%, hemoglobin was 96 g/L, the platelet count was 29 x 109/L, interleukin-6 > 5000 pg/mL, procalcitonin > 100 ng/mL, a lactate level of 5.7 mmol/L, the creatine kinase (CK) was 2175 U/L, a creatine kinase isoenzyme value (CK-MB) of 36 U/L, and the cardiac troponin T value (cTNT) was 170 ng/l. An electrocardiogram revealed the presence of sinus tachycardia, and an echocardiogram suggested cardiac insufficiency with generalized weakening of the left ventricular wall motion, left ventricular enlargement, and an EF of 17%. A chest CT showed solid compression changes in both lower lungs (Figure 1). An abdominal CT demonstrated free air in the abdominal cavity, retroperitoneum, and peritoneal effusion. A cardiology consultation was requested to rule out the possibility of other cardiac diseases, and the final diagnosis was septic cardiomyopathy. To determine the pathogen as rapidly as possible, we collected blood, bronchoalveolar lavage fluid, and peritoneal effusion samples for culture and metagenomic sequencing (mNGS) immediately after admission. Considering the patient exhibited an abdominal infection with pneumonia, we initiated intravenous infusion of imipenem (1 g q8 h) combined with tigecycline (50 mg q12 h, with an initial dose of 100 mg) as empirical anti-infective therapy. Additional treatments included organ support, appropriate analgesia and sedation, and continuous renal replacement therapy.\nOn the morning of the second day, the patient's blood pressure was 99/67 mmHg, and the SPO2 was 99%. At that time, the norepinephrine administration was 0.5 ug/kg/min, the ECMO rotation speed was 2800 rpm, and the flow rate was 2.45 L/min. Echocardiography showed moderate mitral and tricuspid insufficiency, and the left ventricular wall activity was generally weakened. The EF was 27%. On the same day, the NGS results of the blood and bronchoalveolar lavage fluid revealed the presence of Aspergillus fumigatus. To treat the fungal infection, we utilized an intravenous drip of Amphotericin B Cholesterol Sulfate Complex (3 mg/kg/d) and atomization inhalation (25 mg/q12h) antifungal therapy, starting on the same day. During this period, dynamic monitoring of laboratory parameters indicated a progressive decreasing trend in white blood cell count, procalcitonin, CK, and CK-MB values (Figure 2).\nOn the 6th day of ECMO treatment, the patient's blood pressure was 105/57 mmHg without vasoactive drugs, the ECMO rotation speed was 1500 rpm, and the flow rate was 2.0 L/min. Echocardiography indicated that the left ventricular systolic function recovered after ECMO flow reduction, the EF was 46%, and the patient's vital signs were stable. ECMO was terminated on the same day. Echocardiography on the second day after cessation of ECMO showed no abnormalities in ventricular wall motion and valvular structure, the EF was 66%, and the cardiac parameters decreased to the normal range. NGS examination of blood and bronchoalveolar lavage fluid showed no positive results. The patient was transferred from the ICU to a general ward for rehabilitation on day 23 and was discharged on day 42 after improvement was observed.",
"gender": "Male"
}
] |
PMC10992671
|
[
{
"age": 35,
"case_id": "PMC10874296_01",
"case_text": "A 35-year-old gravida 2 patient, at 38 weeks of gestation, was admitted for an elective lower segment caesarean section (LSCS) in view of her bad obstetric history. This patient did not have any co-morbid conditions and therefore underwent an elective LSCS under subarachnoid block. The intraoperative period was uneventful. However, she started complaining of headaches on the second postoperative day, which was initially managed as a post-dural puncture headache. The headache was gradual in onset, mild in intensity, and limited to the parieto-occipital areas. Subsequently, on the fourth postoperative day, she developed sudden loss of vision in both eyes with focal seizures in the periorbital areas and left upper limb. The patient remained hemodynamically stable throughout. Treatment with cefoperazone-sulbactam, levetiracetam, and low-molecular-weight heparin was started, and MR venography, which revealed no abnormalities, was performed (Figure 1).\nAn EEG study also did not show any abnormalities. However, an MRI scan of the brain on the same day showed subtle hyperintensity in the bilateral parieto-occipital lobes in the cortical and subcortical areas and bilateral cerebral hemispheres, which indicates PRES (Figures 2-3).\nAn ophthalmologist also did not find any abnormalities in a detailed eye examination. By the following day, the patient's vision had improved sufficiently to be able to count fingers, the pupils showed normal reactions to light, and the motor power of all limbs had normalized. The patient's vision improved on the seventh postoperative day, and she was discharged from the hospital on the tenth postoperative day in a stable condition without any residual vision disturbances. A follow-up MRI scan after two months did not show any abnormalities (Figure 4).",
"gender": "Female"
}
] |
PMC10874296
|
[
{
"age": 37,
"case_id": "PMC11447487_01",
"case_text": "A 37-year-old gentleman presented with a complaint of right upper abdominal pain for 6 months, which was insidious in onset, constant, and mild in intensity. There was no history of hematuria, smoking, any comorbidities, or past surgery. He was normotensive. Upon abdominal examination, a 5 cm firm abdominal mass was palpated in the right upper quadrant and was associated with mild tenderness.\nExamination of both testes revealed normal findings. Abdominal and pelvic computed tomography (CT) scan revealed a deformed right kidney with soft tissue mass of size 11 x 7 x 6.5 cm in the mid and lower pole extending to the hilar region, with compression of pelvicalyceal system and an upper pole calculus of size 2.4 x 1.2 cm (Figure 1). Post contrast examination showed inhomogenous enhancement of the mass with no evidence of contrast excretion from the kidney. The CT of his chest showed no nodules or pulmonary metastases. The patient underwent a right open radical nephrectomy with lymph node dissection. Intraoperative, a 15 x 7 cm right renal mass was noted infiltrating the psoas muscle, duodenum, and liver. Additionally, a few enlarged retroperitoneal lymph nodes were also noted. The procedure involved the excision of the infiltrated mass in the duodenum with subsequent repair of the duodenum and the creation of feeding jejunostomy and retrograde duodenostomy (Figure 2). The histopathology report indicated a high-grade malignant NSGCT. Additionally, the submitted lymph nodes tested negative for malignancy. Immunohistochemistry performed showed diffuse positivity in the tumor cells for OCT-3/4 of moderate to strong intensity; patchy cytoplasmic granular staining for alpha-fetoprotein (AFP) was noted mostly in the solid areas:focal cytoplasmic granular positivity for alpha-methylacyl-CoA racemase (AMACR) and focal membranous positivity for CD10:and were negative for PAX-8, CD117, GATA-3, Vimentin, and CD30 (Figures 3 and 4). There was no loss of expression of INI-1; focal incomplete membranous staining for CK-7 and CK-20 was noted in the papillary areas (Figure 5).\nThe histopathology report indicated a high-grade malignant nonseminomatous germ cell neoplasm resembling in areas in morphology as a yolk sac tumor. The tumor cells showed a heterogeneous pattern of arrangement with a tubulopapillary architecture, noted in areas composed of columnar epithelial cells displaying nuclear pseudo stratification, enlarged moderately pleomorphic oval to elongate nuclei, visible nucleoli, and scant eosinophilic cytoplasm. At places, a solid pattern with large polygonal and pleomorphic cells with conspicuous mitotic activity was seen arranged in lobules, nests, and sheets. Intervening foci of necrosis was present.\nSerum tumor markers were sent following the histopathological report. Serum AFP levels were raised with a value of 1550.43 ng/ml. Beta human chorionic gonadotropin (HCG) and lactate dehydrogenase (LDH) were normal. Ultrasonography of the testis was normal, ruling out testicular primary. Postoperative period was uneventful and the patient was discharged after 2 weeks. In view of the intraoperative duodenal infiltration, the adequacy of resection could not be guaranteed, and hence the patient underwent four cycles of adjuvant Bleomycin-Etoposide-Cisplatin (BEP) chemotherapy. Patient is fine at 6 months follow-up after chemotherapy.",
"gender": "Male"
}
] |
PMC11447487
|
[
{
"age": 69,
"case_id": "PMC10701290_01",
"case_text": "A 69-year-old female non-smoker was referred to our institute with severe chest pain, orthopnea, and a 1-month history of progressively worsening difficulty in breathing. Chest x-ray showed complete atelectasis of the left lung and severe deviation of the mediastinum to the left (Figure 1A). Flexible bronchoscopy (Figure 1B) and computed tomography of the chest with multiplanar and three-dimensional virtual reconstruction revealed a 22-mm polypoid tumour originating from the left main bronchus (LMB) and occupying the orifice of LMB (Figure 1C). Emergent rigid bronchoscopy under general anaesthesia was performed to restore ventilation to the collapsed lung. The tumour was debulked by coring. The bleeding from the residual tumour was little and stanched by electrocauterization. No precautionary measure was required for prevention of bleeding. A tissue sample was subjected to histopathological examination. The patient had an uneventful recovery and was discharged on post-operative day 3. A chest x-ray obtained on postoperative day 1 confirmed complete resolution of the atelectasis. The histopathological diagnosis was adenoid cystic carcinoma. As complete excision of the tumour could not be achieved at the time of tumour debulking, elective radical resection was performed for this purpose at 1 month after the initial surgery.\nLeft posterolateral thoracotomy was performed through the fourth intercostal space, followed by sleeve resection of the LMB with primary end-to-end anastomosis. The length of the resected bronchus was 3 cm. After division of Bottalo's ligament, the aortic arch was retracted upward and the left pulmonary artery was retracted downward with traction tape to obtain better exposure (Figure 2). Intraoperative rapid histological examination revealed that the resection margins were free of residual tumour cells. The anastomosis was achieved a continuous suture combined for membranous wall with interrupted sutures for cartilaginous wall using 4-0 absorbable monofilament sutures. Pathological examination confirmed complete resection of the tumour and no metastasis to lymph nodes was detected postoperatively. Bronchoscopic examination was performed at 6- and 12-months after the radical surgery and three-dimensional computed tomography was conducted annually as a postoperative surveillance. At 5 years after the radical resection, the patient is well and continues to enjoy a good quality of life with no recurrence.",
"gender": "Female"
}
] |
PMC10701290
|
[
{
"age": 61,
"case_id": "PMC10809987_01",
"case_text": "The patient, a 61 years-old male, had no history of asbestos exposure. He was admitted to our hospital on 30 October 2020, due to the discovery of a liver mass during a physical examination. PET/CT showed multiple liver metastases beneath the liver capsule (the largest measuring 85 mm x 57 mm), with local compression and decreased function in the right posterior lobe of the liver. There were also multiple peritoneal implant metastases, and a possible metastasis next to the thoracic/dorsal 11th vertebra on the right side (Figure 1). On 2 November 2020, a biopsy was performed, and the pathology showed a malignant tumor of epithelioid cells with necrosis. Extensive immunohistochemical analysis confirmed the diagnosis of malignant mesothelioma. Some areas showed papillary and glandular structures, while other areas showed nest-like structures, accompanied by significant collagenization in the stroma, classified as biphasic type (Figures 2-4). Immunohistochemical staining results showed the tumor cells expressing CAM5.2, broad-spectrum CK (CKpan), Vimentin, Desmin, CK7, CK8, WT-1, D2-40, Calretinin, P63, and EMA, while not expressing a-SMA, S-100, ARG-1, SOX10, CD117, DOG-1, CD21, CD23, CD35, HBME-1, A103, P40, Hepa. P16 loss of expression was observed, and the Ki67 proliferation index was approximately 60%. PD-1 was positive in the stroma with abundant lymphocytes, while PD-L1 clone 28-8 was positive in tumor cells (70%) and negative in stromal cells. PD-L1 clone E1L3N was positive in tumor cells (70%) and negative in stromal cells. PDL1 clone 22C3 was positive in tumor cells (5%) and negative in stromal cells (Figures 5, 6). Dual-color fluorescence in situ hybridization (FISH) showed that approximately 10% of tumor cells exhibited monosomy of chromosome 9, approximately 5% had heterozygous loss of the P16 gene, and approximately 2% had homozygous loss of the P16 gene. After the pathological diagnosis was confirmed, considering the involvement of multiple sites including the peritoneum, liver, hepatorenal recess, bladder, and diaphragm, a multidisciplinary discussion was conducted, and transformative treatment was planned. The treatment plan was fully communicated with the patient, and combined immunotherapy was attempted. Starting from 10 November 2020, the patient received the first cycle of treatment, which included pembrolizumab (1,000 mg, day 1) and cisplatin (75 mg, day 1-2) chemotherapy, along with supportive treatments such as dexamethasone, palonosetron, apatinib, atorvastatin, and lansoprazole. On 3 December 2020, the patient received the first dose of pembrolizumab (200 mg, intravenous drip, every 3 weeks). Until 17 March 2021, a total of six cycles of chemotherapy (pembrolizumab + cisplatin) and four cycles of immunotherapy (pembrolizumab) were administered. CT scans showed a significant reduction in the size of the lesions compared to before (43 mm x 27 mm) (Figure 7). NSE and CA125 markers improved. Therefore, on 24 March 2021, the patient underwent a total peritonectomy, partial hepatectomy, and intraperitoneal hyperthermic chemotherapy (cisplatin and doxorubicin). During the operation, scattered thickened lesions and noticeable retraction were observed in the peritoneum (Figures 8, 9). The postoperative pathology showed that the lesions were distributed on the surface of the liver and peritoneum, with significant collagenization in the lesions, almost complete disappearance of tumor tissue, and significant infiltration of lymphocytes in some lesions. Based on the morphology and immunohistochemistry results, residual tumor cells were less than 5% and exhibited significant wrinkling and thinning (Figures 10, 11). Dual-color FISH did not show definite evidence of P16 gene double deletion, and the FISH results tended to be negative. On 10 May 2021, CEA, CA125, and NSE were within normal ranges during hospital follow-up, and abdominal CT scan did not show any definite residual tumor activity. The patient continued PD-1 immunotherapy until 9 May 2022, for a total of 22 cycles. On 30 May 2022, chest CT showed pneumonia-like lesions in the middle and lower lungs, possibly drug-induced organizing pneumonia. Therefore, on 6 June 2022, a lung biopsy was performed under CT guidance, and the pathology showed slight fibrous tissue proliferation in the lung tissue and bronchial wall, slightly widened interstitial spaces, focal protrusions into the alveolar cavities, and localized organizing pneumonia changes, consistent with organizing pneumonia. Based on the imaging and pathological findings, PD-1-related immune pneumonia was considered, with the lesion area being less than 30% of the lung tissue area, classified as grade I (Figure 12). Immunotherapy was discontinued, and targeted treatment with olaparib was continued. CT scans showed improvement in the pneumonia in both lungs compared to before. The patient was followed up regularly until 26 July 2023, and no recurrence or metastasis was observed.",
"gender": "Male"
}
] |
PMC10809987
|
[
{
"age": 82,
"case_id": "PMC10997972_01",
"case_text": "An 82-year-old man with a history of hypertension, presented to the Emergency Department 8 hours after the sudden onset of a severe chest pain. He had been hospitalized for palpitation and rapid atrial fibrillation ten days earlier and the rhythm had been converted to sinus and he was taking amiodarone, bisoprolol, losartan, atorvastatin, ASA, clopidogrel and nitroglycerin thereafter.\n On physical examination, his blood pressure was 120/80 mmHg, and heart rate was 80 beats/min. Chest and heart examinations were not remarkable. Peripheral pulses were normal. A 12-lead electrocardiogram showed sinus rhythm with no evidence of significant acute ischemic changes or any evidence of right ventricular hypertrophy but there was evidence of S1Q3T3 (Figure 1). Laboratory data revealed a hemoglobin of 11.1 g/dl, and white cell count of 9,800/L with a normal differential, Creatinine of 1.7 mg/dl, CRP of 139 mg/L, ESR of 84 and negative COVID-19 RT-PCR. Cardiac troponin was negative (TPI < 0.01). The patient was primarily treated with the diagnosis of acute coronary syndrome and heparinization and anti-ischemic therapy had been started.\n As he was admitted in covid-19 era, spiral lung high resolution computed tomography (HRCT) was done which revealed aneurysmal dilatation of the ascending thoracic aorta of 71 mm diameter and focal hyperdense increased aortic wall thickness.\n Transthoracic echocardiography showed normal left ventricle size with mild systolic dysfunction (Ejection fraction: 45%) without left ventricular hypertrophy. D-shaped left ventricle compatible with right ventricular pressure overload was seen. Right ventricle was severely enlarged with systolic dysfunction. There was no evidence of right ventricular hypertrophy which was against chronic processes. Pulmonary valve was normal. There was trace pulmonary insufficiency without valvular stenosis. Right pulmonary artery narrowing was seen due to compression effect of aortic hematoma resulting in systolic turbulency and gradient of 30 mmHg which could be underestimated due to severe right ventricular failure.\n Tricuspid valve was not stenotic with moderate regurgitation and TRG of 40 mmHg. Pulmonary artery systolic pressure (PASP) based on estimated RA pressure of 15 mmHg was 25 mmHg. Aortic valve was tricuspid with sclerotic changes and mild stenosis and moderate insufficiency. Aortic wall was thickened from STJ, extended to distal part of ascending aorta indicative for intramural hematoma (IMH) (proximal part; (IMH) thickness: 11mm, true lumen: 41mm, total diameter: 56mm) (distal part; false lumen: 19mm, true lumen: 45mm, total diameters: 63mm). No coarctation of aorta was seen. Mild pericardial effusion (8mm) was seen (Figure 2, Movie 1 and Movie 2). After these evaluations aortic dissection was the suspected diagnosis therefore antiplatelet and anticoagulant therapy were discontinued.\n For better evaluation of aorta, thoracic and abdominal aortic computed tomography (CT) angiography was done which supported echocardiographic findings. Ascending aorta was dilated with 70mm diameter. The double lumen aorta with intra-mural contrast, confirmed a type A aortic dissection with 14mm thickness of hematoma. Suspicious evidence of contrast extravasation around dissected aorta was seen. Severe compressions of the distal main and right pulmonary artery by hematoma were seen (Figure 3). Emergent cardiac surgery consult was done and the patient underwent surgery in another center. The Bental surgery was done and the diagnosis was confirmed through the surgery. Due to severe right ventricle systolic dysfunction, the patient's extubation was very difficult. The patient died ten days after the operation due to multiorgan failure.",
"gender": "Male"
}
] |
PMC10997972
|
[
{
"age": 18,
"case_id": "PMC10495144_01",
"case_text": "An 18-year-old male was brought by the ambulance to the emergency department (ED) after a road traffic accident. He was unrestrained and driving at speed of 160 kilometers per hour. There was no history of rolling over or ejection from the car. Three months prior to this presentation, he was investigated for recurrent abdominal pain associated with bloody diarrhea and underwent colonoscopy and abdominal computed tomography (CT). He was diagnosed to have CD with ileocolic stricture, based on the endoscopic finding of terminal ileitis and deformed ileocecal valve. According to Montreal classification, he was classified as A2 L3 B2. He was kept on azathioprine and infliximab to control his CD activity. Upon ED presentation, ATLS protocol was conducted. Initially, he was tachycardic (119 beats per minute) with maintained blood pressure. He was conscious and oriented with a Glasgow coma score of 15. He had a decreased air entry with hyperresonance over the right hemithorax. He had mild tenderness over his right iliac fossa with no signs of peritonitis. Apart from these findings, he had unremarkable primary and secondary surveys.\nHis chest X-rays revealed right-sided pneumothorax. Focused assessment with sonography in trauma (FAST) showed no hemoperitoneum. According to our hospital protocols, the patient underwent pan-computed tomography including head, chest, abdomen and pelvis. The CT revealed enhanced thickened terminal ileum with surrounding fat stranding and minimal collection between the intestinal loops (Figure 1). These findings were compared to his previous CT findings and interpreted as interval regression of his Crohn's disease. His laboratory investigations were unremarkable, with a hemoglobin level of 14.2 g/dL and lactate level of 1.7 mmol/L.\nThe patient was resuscitated and a chest tube was inserted in the right hemithorax for his right-sided pneumothorax. He was admitted for observation and was kept on a regular diet. He remained hemodynamically-stable and his examination was unremarkable with no signs of peritonitis. He underwent daily chest X-rays to assess the right-sided pneumothorax. On the second day, his chest X-rays showed air under diaphragm. A repeated CT showed pneumoperitoneum, multiple air foci around the terminal ileum and mild free fluid (Figure 2).\nThe patient underwent diagnostic laparoscopy, converted to exploratory laparotomy that demonstrated turbid fluid all over the abdomen and confirmed presence of ileal perforation. The ileal perforation was two centimeters and located around 25 cm from the ileo-cecal valve and extending to the mesenteric border. The distal ileum was diseased with extensive fat creeping around the friable inflamed walls. The involved ileal segment was completely resected (around 40 centimeters). Both proximal and distal ends were exteriorized as double-barrel ileostomy.\nPostoperatively, the patient had uneventful smooth course and was discharged on sixteenth postoperative day. Six weeks later, he was electively readmitted for ileostomy closure procedure. He had a smooth postoperative course. He was followed up in the out-patient clinic of gastroenterology and colorectal surgery.",
"gender": "Male"
}
] |
PMC10495144
|
[
{
"age": 40,
"case_id": "PMC11148237_01",
"case_text": "In this brief report, we present the case of a 40-year-old woman with GGOs and an esophageal leiomyoma. GGOs in the right upper lobe were discovered eight weeks prior due to a health checkup, and the patient was placed under surveillance. One week prior, an esophageal lesion was found during barium meal examination ( Figures 1A, B ), and endoscopy was performed 3 days later ( Figures 1C, D ). The enhanced computed tomography (CT) scan after admission showed a mixed ground glass opacity the posterior segment (S2) of the right upper lobe, with a maximum cross-section of approximately 1.3 x 1.1 cm ( Figures 2A, B ). Compared with the state of the nodule 8 weeks prior, no change was detected. No clear boundary was observed between the esophagus and the localized soft tissue observed in the lower part of the thoracic esophagus. Mildly homogeneous enhancement was observed in the local mass. Preoperative planning included 3D simulation of the pulmonary structures for segmentectomy. After the preoperative evaluation and multidisciplinary treatment (MDT) discussion, the patient, with a low body mass index (BMI) of 20.2 (height of 165 cm, weight of 55 kg), decided to undergo nonintubated surgery. Patients who undergo nonintubated surgery might have a faster postoperative recovery, lower complication rates, and lower stress hormone levels.\nThe nonintubated approach is performed by an anesthesiologist who is well trained and experienced in performing SV-VATS. Intravenous anesthesia combined with local intercostal nerve block was used. The patient was placed in the left dorso-lateral position ( Figures 3A, B ). The first incision was made at the 5th intercostal space in the right mid-axillary line. Then, the visceral pleural surface was anesthetized, an intercostal nerve block at T2-T11 and the thoracic vagus nerve was performed by the surgeon through the incision made in the 5th intercostal space (transient uniport status). Then, the 7th intercostal space was incised along the right mid-axillary line (thoracoscopic observation hole), and the 9th intercostal space was incised along the posterior axillary line for segmentectomy.\nFirst, the oblique fissure was separated, and then the ascending A2 was exposed, ligated and cut. Then, B2 was identified and cut using a stapler. The intersegmental plane was separated along the inflation-deflation line using a stapler when the segmental hilum could be sufficiently lifted. The specimen was sent for frozen sectioning. Minimally invasive adenocarcinoma (MIA) was reported 30 minutes later. The mediastinal lymph nodes of Group 2/4 and Group 7 were sampled.\nThen, the esophageal leiomyoma was removed during thoracoscopic surgery. A port was added along the posterior axillary line of the 7th intercostal space. The posterior mediastinal pleura was opened above and below the mass. A sufficient portion of the esophagus was exposed. The lower thoracic esophagus was enlarged, hard, and bulging. A longitudinal myotomy was performed over the mass. Although the outer muscle layer of the leiomyoma was peeled off, it was difficult to expose the entire irregularly shaped mass. A hook cautery and cottonoid sponge were used to carefully separate the mass from the submucosa. The circumference of the lower part of the esophagus was checked to ensure complete removal of the leiomyoma. A water injection test using a nasogastric tube revealed no leakage. The muscular layers were sutured. The entire surgical process took approximately 90 minutes and was performed through SV-VATS ( Supplementary Video 1 ).\nThis patient's postoperative course was uneventful. Both the barium swallow ( Figures 4A, B ) and methylthionine chloride swallow were negative for esophageal leakage. The chest drain was removed on postoperative day 2, and the patient was discharged on postoperative day 3. The final pathological report revealed a 7 cm x 4 cm x 3 cm benign leiomyoma and MIA in the upper lobe of the right lung, with negative lymph nodes. Three months after surgery, CT was performed, and no abnormalities were found ( Supplementary Videos 2 , 3 ).",
"gender": "Female"
}
] |
PMC11148237
|
[
{
"age": 72,
"case_id": "PMC10755169_01",
"case_text": "A 72-year-old woman who had recently been diagnosed with anterior wall ST-elevation myocardial infarction (STEMI) and undergone left descending artery revascularization was recently referred to our hospital. One day later, the patient experienced ventricular fibrillation (VF) storm that was triggered by premature ventricular contraction (PVC) (Figure 1A). The patient required repeated cardiopulmonary resuscitation (CPR) and multiple defibrillations despite administering antiarrhythmic drugs (amiodarone, lidocaine), general anaesthesia, and overdrive pacing.\nExtracorporeal membrane oxygenation (ECMO) was selected to provide urgent cardiac mechanical support, and the patient was immediately sent to our heart transplantation centre for evaluation for the necessity of a left ventricular (LV) assist device or bailout VF ablation.\nPremature ventricular contractions had their origin between the anterior and posterior fascicles as identified by 12-lead electrocardiogram (ECG). These PVCs were responsible for inducing numerous episodes of VF resulting in VF storm. We decided to perform a bailout catheter ablation aiming for the elimination of the trigger PVCs and concomitant substrate modification of the ischaemic revascularized area.\nMapping was carefully carried out using a multipolar catheter (OctaRay, Biosense Webster) and a 3D navigation system (Carto3, Biosense Webster). An endocardial bipolar voltage map was performed which showed scarred tissue in the septal area affecting the conduction system and Purkinje network (Figure 1E and F). The earliest myocardial activation during PVCs was observed along the Purkinje network of the left bundle branch, too Figure 1B and C. This activation was consistently preceded by Purkinje potentials, which were followed by a PVC with the initiation of VF (Figure 1D). These findings confirmed that the scar-mediated PVC mechanisms were responsible for VF.\nCatheter ablation was conducted using a contact force sensing catheter (QDOT, Biosense Webster) implementing a temperature-controlled ablation mode (QMODE, 50W). Ablation resulted in sustained PVC elimination and persistent suppression of VF. Afterward, ischaemic LV scar was targeted in terms of substrate modification and Purkinje de-networking (Figure 1G and H). The patient remained free from any PVC and VF episodes and received a cardiac resynchronization therapy defibrillator (CRT-D) before discharge.\n Consent: The patient signed written informed consent for all treatment procedures. The journal consent form has been signed by the patient. Patient information in this case report is provided anonymously in accordance with the Committee on Publication Ethics (COPE) guidelines.\n Funding: None declared.",
"gender": "Female"
}
] |
PMC10755169
|
[
{
"age": 35,
"case_id": "PMC10601808_01",
"case_text": "A 35-year-old man presented with new acute right upper quadrant (RUQ) abdominal pain in December 2019. He also presented with a self-reported 8-month history of significant gynecomastia, 6-month history of reduced libido and morning erections, and progressive weight gain and obesity (body mass index of 36). He denied galactorrhea or decrease in testicular size. He had no history of hypertension, flushing, sweating, palpitations, headache, or diabetes mellitus. He was not taking any medications. There was no family history of endocrine disorders or genitourinary malignancies. Physical exam confirmed RUQ pain and gynecomastia and was negative otherwise.\nLaboratory values showed low follicle-stimulating hormone (<0.1 mIU/mL), low luteinizing hormone (<0.1 mIU/mL), low testosterone (37 ng/dL), high estradiol (181 pg/mL), normal cortisol (8.0-14.5 mug/dL), low adrenocorticotropic hormone (ACTH) (1 pg/mL), and normal norepinephrine levels (524 pg/mL). Low-dose dexamethasone test showed unsuppressed cortisol.\nA computed tomography (CT) scan of the abdomen revealed a large heterogeneous right adrenal mass (18 x 8.5 x 14.5 cm) of predominantly soft tissue density. It was highly vascularized, with a large number of collaterals and focal areas of high enhancement (Fig. 1a-b). It appeared well-defined and was not noted to invade or infiltrate into adjacent viscera and tissues. No metastases were noted. The diagnosis of an adrenal tumor was made, but differentiation between a benign versus malignant tumor could not be made with CT alone. Magnetic resonance imaging confirmed a solid heterogeneous enhancing mass which was well marginated, concerning for adrenocortical carcinoma (Fig. 1c).\nGiven the combination of a malignant adrenal mass, high estrogen, and lack of other hormonal symptomatology (i.e., Cushing syndrome, hypertension, and virilization), it was determined that the patient had an FAT. Pheochromocytoma was considered due to location but was ruled out due to normal serum metanephrines/normetanephrines and pathological findings described below.\nSurgical resection was performed within days of diagnosis. At surgery, the tumor was confined to the adrenal gland without apparent invasion of adjacent structures. The resection margin was negative.\nOn gross examination, the tumor was 18 cm in greatest dimension, predominantly yellow in color, and circumscribed with prominent areas of hemorrhage and necrosis (Fig. 2a). On microscopic examination, the tumor was predominantly eosinophilic (>50% of tumor cells), mitotically active (10 mitotic figures per 50 high-power fields) with extensive tumor necrosis (>80%) (Fig. 2b, c). Lymphovascular and capsular invasion were not identified. The MIB-1 index was 10-20%. The modified Weiss score of the tumor was 5, indicating malignancy based on histopathological findings. The tumor cells were positive for inhibin and calretinin, further supporting the adrenal cortical origin of the tumor. The nonneoplastic adrenal gland was atrophic.\nTwo months post-op, he sustained normalization of hormone parameters (Table 1), gynecomastia decreased to near baseline, and libido/erections returned to normal. There was still excess adiposity, with some mild persistent swelling around the areolas. No weakness, fatigue, or other signs/symptoms of adrenal insufficiency were reported. Cosyntropin stimulation test revealed some cortisol suppression, but due to lack of clinical presentation and the ability to use cortisol as a tumor biomarker, the patient was not started on hydrocortisone therapy.\n18 months post-op, in May 2021, another chest X-ray and contrast abdominal and pelvic CT surveillance was performed, revealing a new 1 cm nodule in the right adrenalectomy bed. A previous 0.9 cm mass (diagnosed 1 year prior) central from the inferior right hepatic lobe posterior to right kidney grew to 1.4 cm, concerning for local recurrence (Fig. 3). Testosterone levels remained within normal range but had dropped substantially since last recorded; estrogen levels had substantially risen since last recorded (Table 1).\nThe patient presented with worsening gynecomastia, erectile dysfunction, and steatosis in September 2021. Previous nodules had grown and multiple metastatic hepatic and retroperitoneal nodules had appeared, which were surgically resected. Potentially, metastatic hepatic and perihepatic nodules up to 2 cm appeared in December 2022 and enlarged by April 2023, indicating locoregional recurrence of the disease after nearly three and a half years since initial diagnosis of the primary tumor. Plans include chemotherapy with mitotane or etoposide/doxorubicin/cisplatin given the slow progression and low grade of the disease, with surgery not indicated due to recurrent metastatic disease.",
"gender": "Male"
}
] |
PMC10601808
|
[
{
"age": 12,
"case_id": "PMC10834648_01",
"case_text": "A 12-year-old girl with MPS type I (Gurler-Scheie syndrome, with two pathogenic variants Q70X/del C683 of the IDUA gene in the compound heterozygous state) regularly received enzyme replacement therapy (laronidase) since the preclinical stage from the age of 6 months due to positive family history. Her elder sister died at the age of 10 years from MPS I. The patient has had joint pains, and courses of non-steroidal anti-inflammatory drugs were prescribed.\nDue to progressive pain, decreased range of motion, and quality of life, the etanercept treatment of 0.8 mg/kg/week was initiated at the age of 12 years. The study was approved by the Ethics Committee of Saint-Petersburg State Pediatric Medical University (protocol #1 from 19.01.2009) and by the local university authorities according to the national law. Written consent was obtained from the patient's parents.\nFor the assessment of treatment efficacy, we used data from physical examination, routine laboratory tests, whole-body magnetic resonance imaging (WB-MRI), and assessment of the quality of life and pain in children with the following questionaries: childhood health assessment questionnaire (CHAQ), the pediatric quality of life inventory (PedsQL), visual-analog scale (VAS), juvenile arthritis functional assessment report (JAFAR). Furthermore, we recorded data from the 6-min walking test and the number of days of taking non-steroidal anti-inflammatory drugs (NSAID) per month before etanercept onset and at 6 and 12 months of treatment. Adverse events during the 12-month treatment period were collected.\nBefore the start of etanercept treatment, the patient had the following complaints: persistent pain and stiffness of the joints, limited self-care, difficulty in walking long distances, fatigue, and increased pain after walking and exercising.\nJoint status: all visible joints were deformed with a range of motion limitation, and the patient reported pain during movement examination, as well as stiffness.\nWB-MRI showed the areas of trabecular bone marrow edema in the talus bones, in the femoral condyle. Synovial effusion in the ankle, knee, and hip joints was detected.\nAt the end of 12 months of weekly etanercept treatment, at the age of 13 years, no adverse events were noted. The patient noted a reduction of pain in the joints and the expansion of daily physical activity. During the examination, there were no significant changes in the joint status.\nWB-MRI after 15 months of etanercept therapy showed a decrease of bone marrow edema foci intensity. No new foci of bone marrow edema and no progression of the size of the existing foci (Figure 1) were observed.\nAs for the quality of life assessment, some improvement in the indexes was observed during the treatment: CHAQ index before therapy was 1.88, whereas after 6 months of therapy, it increased to 2.13, and after 1 year of therapy, it was 1.63 points. The patient's PedsQL, according to the child, was 37/30/31 points, and parental PedsQL was 26/27/34 points. The patient's pain visual-analog scale (VAS) decreased in pain index: before/during/after, 75/45/40. We did not measure the mother's VAS scores. The JAFAR index decreased from 35 points before etanercept treatment to 34 points and 8 points at the 6th and 12th month of treatment, respectively. A reduction in the taking of NSAIDs during the treatment with etanercept was observed. Since the 8th month of the treatment, the patient did not use NSAIDs. The data are shown in Table 1. In the second half of the year, the nasal breathing became normal, and remission in chronic rhinitis and adenoiditis was achieved (no infection episodes). There was no exacerbation in the ear (no otitis episodes and no hearing impairment).",
"gender": "Female"
}
] |
PMC10834648
|
[
{
"age": 8,
"case_id": "PMC11057953_01",
"case_text": "An 8-year-old girl, with no specific medical history, was admitted to the hospital for investigation of a cervical mass. The symptoms had been evolving for about 2 months and were marked by the appearance of a swelling in the right cervical, painless, and rapidly increasing in size. There were no compressive signs of the aerodigestive tract; in particular, there was no difficulty breathing, no dysphagia, and no change in voice timbre. There were no general signs (fever, night sweats, or weight loss). Clinical examination revealed a mass of the right laterocervical that measured 11 cm in length, was firm in consistency, and mobile in relation to the superficial planes, without the tendency to spontaneous fistulation (Figure 1). The other peripheral lymph node areas were free. There was no hepatosplenomegaly. The rest of the clinical examination was not remarkable.\nThe complete blood count (CBC) showed normocytic normochromic anemia, with erythrocytic anisopoikilocytosis in the blood smear, without abnormal cells circulating. The direct Coombs test was negative. Biochemical analysis revealed a biological inflammatory syndrome; the rest of serum parameters were normal. Viral serologies (HIV, HBV, and HCV) were negative. The tuberculin skin test was negative.\nCervical CT revealed clusters of right lateral cervical adenopathies with no signs of compression of the aerodigestive tract (Figure 1). The chest radiograph and abdominal ultrasound were normal.\nA lymph node biopsy was then performed. Histology showed a disorganized lymph node architecture, with dilated sinuses containing numerous histiocytes that phagocytose lymphocytes and lymph node parenchyma marked by lymphocyte hyperplasia and images of emperipolesis (Figure 2). Immunohistochemistry revealed mainly histiocytic markers, in particular PS100 and CD68. The pathology favored a diagnosis of Rosai-Dorfman disease.\nThe patient was treated with oral corticosteroids of 1 mg/kg/d of prednisone, combined with adjuvant measures.\nEvolution after 1 month of treatment was marked by involution of the cervical mass (Figure 3) and, in biological terms, normalization of the CBC and regression of the inflammatory syndrome (Table 1). The corticosteroid therapy was then reduced and stopped after a total of 2 months. Clinical monitoring revealed no recurrence after one year of follow-up.",
"gender": "Female"
}
] |
PMC11057953
|
[
{
"age": 17,
"case_id": "PMC11300344_01",
"case_text": "The patient was a 17-year-old male affected by CCM (presenting the c.7354C>T variant of gene RYR1 exon 46), without associated pathologies. His weight was 53.3 kg, and his height was 1.56 m. He was diagnosed with CCM when he was 3 years old, and a subsequent genetic examination (Figure 1) highlighted a heterozygous pathogenic variant in a gene compatible with the patient's clinical manifestations, which leans towards the diagnostic classification of CCM pathogenic variant of the dominant gene RYR1. In January 2023, he underwent a routine neurological check reporting an increased perception of fatigue, which negatively impacted his ability to perform school-based physical activities. The clinical examination highlighted the patient's maintained ability to change position from laying supine to sitting, an independent physiological gait as well as the ability to jump in single and double stance, albeit with little elevation. The spine appeared aligned and normally flexible. Muscle trophism, tone and reflexes were within normal limits in the patient's upper limbs, shoulder girdle, pelvic girdle, and lower limbs. Muscle strength was within normal limits in the upper limbs and shoulder girdle, whereas a loss of strength was observed in the adductor and gluteal muscles during assessment of the pelvic girdle and lower limbs. Further, the triceps surae were observed to be pseudo-hypertrophic. Magnetic resonance imaging (MRI) showed bilateral adipose infiltration in the hamstrings, sartorius and triceps surae muscles and a marked bilateral atrophy of the gluteal muscles. The semitendinosus and rectus femoris muscles were partially spared.\nAt the end of this clinical routine, the patient was advised at our sport medicine centre.\nThe participant and his parents signed a written informed consent form before his inclusion in the study. The patient's clinical history highlighted fundamental critical episodes. In 2012 a serum hyperCKemia (around 1,500 U/L) was measured in the emergency room following a car accident. Considering that hyperCKemia can be associated with CCM, further CK measurements were recommended to tell if this incidental evidence had to be attributed to the underlying disease or to the car accident, confirming that these abnormal values were the norm for the patient. Therefore, since this event, periodical CK investigations were performed to keep the parameter under observation. In February 2023 a marked increase in serum CK (7604 U/L) was found 2 days after at home unsupervised physical activity as follows: 1) the activity was performed every day for 6 days; 2) the total duration of each exercise session was 25-30 min; 3) the activity was alternated: 1 day biking, 1 day body weight resistance training with squat and plank paradigms (approximately 30 s per exercise); 4) on the second day, delayed onset muscle soreness (DOMS) appeared and persisted in the following 7 days; 5) to retrospectively quantify the perceived effort at the end of each session, the Borg category ratio (CR) 0-10 scale was used, given its proven effectiveness in quantifying effort in both resistance training and aerobic training. The value reported by the subject was eight for each session. These data were subsequently considered to tailor the training program.\nIn March 2023, we aimed to find a safe and effective strategy to incorporate combined aerobic and resistance exercise into the patient's life in an attempt to counteract the progression of disease. Suchchoice was based upon the documented role of aerobic and resistance exercise in preserving muscle structure and function in both healthy and diseased muscle. The following descripted methodologies are part of the clinical procedures habitually adopted in our sport medicine centre. Notably, we usually apply such paradigms in patients with other myopathies at risk of rhabdomyolysis, such as metabolic myopathies. To safely provide a tailored training program, adapted from the independent physical activity reported by the patient, the subject underwent a 3-week (one exercise session per week) preliminary tolerance test in which exercise intensity was reduced (Borg 8 Borg 6) and duration was maintained (25 min) as follows: week 1, aerobic training on a bike alternating 2 min at Borg 4 (heart rate range, 117-127 bpm) and 1 min at Borg 6 (heart rate range, 135-150 bpm), the training was carried out with the use of a heart rate monitor; week 2, resistance training including exercises for core and abdominal muscle [hand-foot plank, front plank (2 sets for 30 s each) crunch and reverse bent leg crunch (2 sets of 15 rep each)], lower limbs [squat, two-legged and single-legged calf standing, climb a step with weight (3 sets of 12 reps each)] and upper limbs including the shoulders (overhead press, lateral raises), and triceps and pectorals muscle (push-ups) (2 sets of 12 reps each). In this session, exercises were interspersed with 2 min recovery and performed without emphasizing the eccentric phase of the contraction, known as potential cause of rhabdomyolysis; week 3, mixed aerobic [10 min of bike alternating 2 min at Borg 4 (heart rate range, 117-127 bpm) and 1 min at Borg 6], and resistance training (repeating week 2 session removing 1 set and 2 repetitions from each exercise). All sessions were supervised by a qualified operator (MV) for patient safety and to ensure compliance with the proposed program.\nThirty-six hours following each exercise session, a blood sample was collected to measure circulating CK levels. For 1 week after each session, a daily quantification of soreness was obtained by means of the visual analogue scale (VAS), commonly used to quantify DOMS. DOMS peak value and duration were reported.\nAt the completion of the 3-week preliminary tolerance test, the resulting CK and DOMS measures were as follows: week 1, CK = 1343 U/L, DOMS duration (days) = 0, DOMS peak = 0; week 2, CK = 1145 U/L, DOMS duration (days) = 1, DOMS peak = 1 (1 day after test); week 3 (mixed aerobic and resistance training), CK = 1377 U/L, DOMS duration (days) = 1, DOMS peak = 1 (1 day after test).\nThe training program included resistance exercises twice a week and aerobic exercises once a week, which were carried out with the same modalities of the preliminary test but with less rest days between the sessions (from 7 days to 2 days). The weekly frequency of the sessions (3 per week) was chosen considering that 36 h after the preliminary training sessions, time frame within which, considering the moderate intensity of the exercises, serum CK should have reached its peak, the CK values were comparable to those found in some previous routine checks (Figure 2), suggesting a possible cumulative effect as unlikely. Moreover, the reported modest duration and degree of DOMS, indicated the reasonable possibility of good tolerability of the proposed workload, without inducing exercise-related pain or discomfort. The training program lasted 3 months as it is a time frame widely sufficient to induce adaptations to both resistance and aerobic training. Stretching followed each training session to prevent contractures and strains which, given the predisposition dictated by the disease, could likely have occurred. As during the preliminary test, all sessions were carried out under supervision.\nBefore and after the training program, the patient underwent a battery of metabolic and cardiopulmonary tests. Resting metabolic rate (RMR) was measured at 08.00 h in a room where ambient temperature was fix at 23 C using indirect calorimetry technique (Quark PFT, Cosmed, Italy). The patient arrived in a fasted state (from 8 h) and was instructed to lie quietly for 10 min, after which a ventilated hood was placed over the head (Canopy, Cosmed, Italy). The subject was asked to relax but remain awake for the duration of the test (25 min). The dilution rate was adjusted during the first 5 min of the test so the fraction of expired VCO2 was between 1.0% and 1.2%. This portion of the test was excluded to allow breathing and dilution rate to normalize; RMR and RQ were averaged over the remaining 20 min. Initial RMR was 1,588 kcal/day, with an RQ of 0.76 (normal range at rest 0.7-0.85), highlighting a high percentage of fat utilization (83%).\nBioimpedance (Akern, Pontassieve, Italy) was utilized to evaluate body composition through the measurement of its impedance consisting of resistance (R) and reactance (Xc). The following parameters were measured: muscle mass (MM), body cell mass (BCM), fat mass (FM) and phase angle (PA, 6) measured as [arctangent (Xc/R) x 180 /pi]. For the measurement of MM, BCM and FM values, bioimpedance uses predictive equations that have not been validated in this type of patient and could, therefore, be altered by over- or underestimation errors. For this reason, considering that the bias, if present, would be constant, the pre and post training evaluation relating to these parameters is proposed only as the difference between the values obtained before and after the intervention (see Table 1).\nA cardiopulmonary exercise test (CPET) was performed on a cycloergometer (E 100, Cosmed, Italy), with the patient wearing a two-way breathing mask covering the nose and mouth (V2 Mask TM, Hans Rudolph Inc., United States), connected to a gas analyzer (Quark PFT, Cosmed, Italy). CPET was performed with an incremental technique (15 W every 2 min, with a previous warm up of 5 min at 20 W), and VO2 and VCO2 output were measured using the breath-by-breath method. The test was performed until exhaustion, with the achievement of a respiratory exchange ratio (RER) of 1.15 (>1.1 maximal effort index), a blood lactate value of 10 mmol/L and a Borg CR 10 value of 10. For blood lactate determination, blood sample was obtained from the earlobe and concentration was determined by a specific lactate detection device (Lactate Pro 2, Arkray, Kyoto, Japan). Ventilatory anaerobic threshold (VAT) was assessed from the slopes of VO2 and VCO2.\nVO2 max was 1,703 mL/min corresponding to 31.9 mL/min/kg (normal range for age and gender over 1,933 mL/min or over 24.8 mL/min/kg). Overall CPET underlined a very low oxygen uptake during the effort, not from respiratory deficiency, as VE/VCO2 was below 30, but from the mitochondrial metabolic impairment. All the pre- and post-training program values are reported in Table 1. Coherently with the preliminary tolerance test procedure, post-training program CK measurement was performed 36 hours after the last exercise session (Figure 2).\nTo plan an adequate nutritional support to the training program, a qualified team led by an experienced dietitian (EL) assessed the nutritional status of the patient by using diagnostic-clinical tools including the evaluation of the dietary intake (macronutrients, micronutrients and energy intake), blood biochemical analysis, and anthropometrical and body composition determinations. The patient's long-term diet was assessed by using the Quantitative Food-frequency Questionnaire (FFQ) on a typical week from which three non-consecutive days were extrapolated. The nutritional intake adequacy was then analysed based on the Recommended Levels of Nutrients and Energy Intakes (LARN). Energy intake and macronutrient distribution resulted inadequate to satisfy the needs (3,130 kcal/day; CHO 43%, FAT 35%, daily proteins 107.13 gr). An elevated consumption of saturated fats was also found. Blood biochemical evaluation revealed vitamin C (4.3 mg/L), vitamin D (23.6 ug/L) and Cu (60 ug/dL) deficiencies.\nConsidering a RMR of 1,588 kcal/day (Table 1), a personalized isocaloric Mediterranean diet of 2,000 kcal/day was determined based on the estimated calorie needs per day, by age and gender in patients with neuromuscular disorders. The daily diet was tailored to reach a macronutrient intake of 50% CHO, 30% FAT, and a protein intake of 1.5 g/kg body weight/day in accordance with nutritional recommendations for the management of sarcopenia. In addition, the patient began a regimen of nutritional supplementation to sustain protein synthesis (Aminotrofic, Errekappa, 7 g/day of essential amino acid mixture) and to adjust the identified vitamin deficiencies (multivitamin Unicomplex Plus, Kline, 2 sachets/die). This nutritional regimen was maintained all throughout the training program and the compliance was assessed via a diary in which the patient had to record the food consumed. Before every third training session of the week, the diary was checked by one of the researchers responsible for the nutritional plan (JL, EL, MN, SA).",
"gender": "Male"
}
] |
PMC11300344
|
[
{
"age": 52,
"case_id": "PMC10789272_01",
"case_text": "A 52-year-old Chinese lady presented with painless gross haematuria for one month. She has underlying hypertension and a history of transabdominal hysterectomy and bilateral salphingo-oophorectomy (TAHBSO) for uterine fibroid many years ago, for which she was started on hormonal replacement therapy. She is a non-smoker with no occupational hazard or family history of genitourinary cancer. Physical examination was unremarkable. Electrocardiogram showed sinus rhythm with a regular pulse rate ranging from 70-80 beats per minute (bpm).\nComputed tomography (CT) showed a 4.6 x 4.7 cm Bosniak 4 complex renal cyst at the upper pole of right kidney. Flexible cystoscopy revealed multiple papillary bladder tumours, with the largest measuring 3 cm. She underwent transurethral resection of bladder tumour (TURBT), and the histopathological examination showed high-grade invasive urothelial carcinoma with no muscularis propria invasion (pT1HG). She was given a single course of intravesical mitomycin post-operatively. No tumour was found during the second relook TURBT. She subsequently underwent laparoscopic right radical nephrectomy. Histopathological examination showed pT1b WHO/ISUP Grade 2 clear cell RCC with negative surgical margins. She recovered well and had a normal heart rate (70-80 bpm).\nOne month later, she was started on intravesical Bacillus Calmette-Guerin (BCG) induction therapy using Immunobladder (Japan BCG Laboratory). One vial of 80mg BCG was diluted into 50cc and given as intravesical therapy through a urethral catheter. She tolerated the treatment well with no complications. After the third treatment cycle, she complained of peripheral numbness and tingling sensation over bilateral limbs. Subsequently, she had right upper limb and lower limb weakness, which progressed bilaterally. The sensorimotor symptoms started distally and progressed in ascending direction upwards. Muscle power bilaterally was 4/5 with absent knee reflex bilaterally. She was also found to have unexplained sinus tachycardia with no significant cause. We excluded infections and venous thromboembolism, which could cause tachycardia.\nCT brain showed no significant intracranial abnormality. Whole spine magnetic resonance imaging showed no evidence of spinal canal stenosis or abnormal signal to suggest myelopathy or spinal metastasis. Lumbar puncture was performed, and CSF analysis showed albumin-cytological dissociation. The CSF protein was elevated (1702 mg/L), while cytology, microscopic examination (cell count: 0) and cultures of CSF were clear and negative. A nerve conduction study (NCS) demonstrated electrophysiological evidence of diffuse sensorimotor (predominantly demyelinating) polyneuropathy. Her serum immunological workup suggested autoimmune aetiology (Table 1).\nShe was started on intravenous immunoglobulin (IVIg) therapy. Her symptoms improved significantly with the resolution of tachycardia (Figure 1). The patient's neurological and motor function also improved with rehabilitation. NCS performed two months after IVIg showed significant improvement in sensorimotor polyneuropathy (Figure 2). She refused further NCS as she had recovered to her normal baseline. Further maintenance intravesical BCG therapy was withheld. Surveillance cystoscopy and CT scans did not show any evidence of cancer recurrence.",
"gender": "Female"
}
] |
PMC10789272
|
[
{
"age": 10,
"case_id": "PMC10797254_01",
"case_text": "A ten-year-old male child weighing 24 Kg was referred to the Department of Surgery, Tata Steel Hospital in Jharkhand, India. The patient was admitted after encountering increasing pain in his epigastric region. He revealed pain in the abdomen associated with nausea and postprandial vomiting.\nHe did not have any previous history of any type of gastritis or peptic ulcer disease. His vitals at the time of the visit were temperature of 101 F, respiratory rate of 22 breaths per minute, blood pressure of 90/60 mmHg, and heart rate of 116 beats per minute. He was dehydrated, and his skin was pale yellow with a toxic look. The abdomen was slightly distended and diffusely painful, with stiffness and guarding all over the abdomen. His urine analysis was normal during the examination. Before admission to the hospital, the patient took three doses of prednisolone, each of 10 milligrams (mg), to treat bronchitis.\nThe complete blood count test and serum electrolytes showed hemoglobin of 11.2 gram/deciliter, platelets count of 176,000 per microliter, blood urea of 21 milligrams per deciliter, sodium 132.9 milli-equivalents per liter, potassium 4.01 milli-equivalents per liter, serum creatinine 0.40 milligrams per deciliter, and chlorides 96 milli-equivalents per liter. Abdominal X-rays in the upright and supine postures suggest hollow viscous gastrointestinal perforation having air underneath the right hemidiaphragm (Figure 1a).\nNasogastric and urethral catheters were inserted. Broad-spectrum antibiotics, namely piperacillin plus tazobactam (2.25 grams) and metronidazole infusion (50 milliliters; 250 mg) were administered intravenously, and an emergency exploratory laparotomy was performed. The surgical findings included a 5mm x 5mm perforation on the anterior wall of the gastric antrum wall (Figure 1b). Near about 2 liters of bilious fluid was collected from the peritoneal cavity. After refreshing the margins, an omental patch was used to fix the gastric defect. The abdomen was washed with warm, normal saline throughout the process until the returning fluid was clear. Later, the abdomen was drained and closed. Figure 1 shows an X-ray and surgical results, respectively.\nOn the 3rd post-operative day, the patient was shifted to wards and started on oral fluids based on the institutional protocols. Post-operative antibiotic treatment and proton pump inhibitors were continued for 10 days. No complications were observed. The patient recovered well and was discharged in good physical condition with a follow-up treatment prescription. This treatment included cefuroxime (250 mg) and metronidazole (200 mg) orally for at least 5 days. On follow-up after a month, clinical inspection and examination revealed no symptoms of dehydration, weight loss, leakage, infection, or fever. The patient was pleased with his overall health, as he recovered well.",
"gender": "Male"
}
] |
PMC10797254
|
[
{
"age": 55,
"case_id": "PMC10656719_01",
"case_text": "In August 2014, a 55-year-old man presented with abnormal chest X-ray findings that had been detected on a medical checkup performed two months previously. He did not complain of any symptoms such as cough, sputum, and dyspnea. A chest X-ray obtained in November 2013 showed no abnormalities. He suffered cerebral infarction in April 2013 and had taken clopidogrel since then. He denied taking any other dietary supplements, health foods, or over-the-counter medicines. He had smoked one pack of cigarettes per day from 20 to 54 years of age but did not drink alcohol. His residence was made of wood and received a large amount of sunlight. As a businessman, he was never exposed to dust, birds, or pets, and he had no relevant family history.\nHis vital signs on examination were as follows: respiratory rate, 18/min; blood pressure, 110/62 mmHg; heart rate, 62 beats/min; body temperature, 36.6 C; and O2 saturation by pulse oximetry, 98 % on ambient air. The superficial lymph nodes were non-palpable. Slight inspiratory fine crackles were auscultated over the left lung fields. No cardiac murmurs, extremity edema, or abnormal neurological findings were found. There were no abnormal ophthalmologic findings or skin changes.\nPulmonary function testing showed vital capacity (VC) (%predicted) of 4.38 L (105.3 %), forced VC of 4.25 L (102.2 %), and forced expiratory volume in 1 second (FEV1) of 3.61 L (122.0 %). Transthoracic echocardiography revealed no abnormal findings. His white blood cell count was 5400/muL, and his other values were as follows: hemoglobin, 13.8 g/dL; platelet count, 24.8 x 104/muL; total protein, 7.3 g/dL; albumin, 4.2 g/dL; creatinine, 0.7 mg/dL; sodium, 146 mmol/L; chloride, 110 mmol/L; potassium, 4.2 mmol/L; aspartate aminotransferase, 24 IU/L; lactate dehydrogenase, 178 IU/L; and C-reactive protein, 0.2 mg/dL. Chest X-ray showed reticular shadows and ground-glass opacities in the left lower lung field (Fig. 1a). Chest computed tomography (CT) showed interlobular septal thickening in the left lower lobe (Fig. 1b and c). No mediastinal or hilar lymphadenopathy or pleural effusion was observed.\nThe differential diagnoses included diseases showing interlobular septal thickening, such as lymphangitis carcinomatosis, sarcoidosis, amyloidosis, and malignant lymphoma. The patient's other blood values were as follows: Krebs von den Lungen-6 (KL-6), 709 U/mL; CEA, 3.7 ng/mL; angiotensin converting enzyme, 20.6 IU/L (normal, 7.7-29.4); Immunoglobulin G, 1010 mg/dL; and IgG4, 22.5 mg/dL. No abnormalities were found on esophagogastroduodenoscopy, abdominal CT, fecal occult blood test, or urinalysis. The examination of a transbronchial lung biopsy specimen obtained by bronchoscopy showed only nonspecific inflammatory cell infiltration. The patient was followed conservatively without treatment as an outpatient; his abnormal lung shadows spontaneously improved from 2 months thereafter. The patient steadfastly denied changing or stopping any drugs and had not changed his workplace or lifestyle. We changed his clopidogrel to aspirin in 2015, and by July 2015, new reticular shadows had appeared in his left lower lobe, so we performed a thoracoscopic lung biopsy from the lateral basal segment of the left lower lobe.\nThe distribution of inflammation was patchy, random, and multifocal with a monotonous phase (Fig. 2a); the primary finding was lymphocytic alveolitis with occasional intraluminal organization (arrow) (Fig. 2b), along with occasional intraluminal granulomatous lesions (e.g., poorly formed epithelioid cell granulomas of <100 mum) (Fig. 2c), cholesterol granulomas (Fig. 2d), and Schaumann bodies (Fig. 2e). There was no interlobular septum, and no well-formed epithelioid cell granulomas were observed around the blood vessels or bronchiolar walls. The pathological diagnosis was consistent with cellular non-specific interstitial pneumonia (NSIP) with granulomatous inflammation. Grocott's staining and Ziehl-Neelsen staining were negative, as were tissue cultures for acid-fast bacilli or fungi. Non-fibrotic hypersensitivity pneumonitis (HP) was unlikely because inflammation was not airway-centered, even though poorly formed epithelioid cell granulomas were present.\nAdditional tests, including a serum cryptococcus antigen test, anti-Trichosporon antibody and anti-pigeon dropping extract antibody measurements were negative. Having no firm diagnostic results, we continued to follow the patient without additional treatment.\nThen, from 2017 to November 2021, pulmonary reticular shadows developed and gradually increased. Mild dyspnea on effort and dry cough also developed gradually during this period. Because the lung lesions repeatedly improved and then worsened, we obtained a detailed patient history by asking concrete and direct questions such as \"Are there any drugs that were started before worsening of the symptoms or chest imaging? Such drugs include those administered by any route, for example, orally, by injection, and topically. In addition, are there any drugs that you have hesitated to report to us?\" At that time, the patient acknowledged his use of topical minoxidil, although he could not recall whether the amount of topical minoxidil used had changed. He fundamentally applied the drug every day, but he sometimes forgot to use the drug. When his pulmonary shadows showed improvement, he would start minoxidil, and when they worsened, he would stop using the drug. The patient's drug history and time-course of VC, CT findings, and KL-6 values are summarized in Fig. 3. Topical minoxidil was used from January 2014 until the time of his presentation in August 2014, and was stopped until January 2015, when we advised him that his pulmonary shadows on CT had improved. He restarted the drug, but by July 2015, his pulmonary shadows had worsened, and we performed a thoracoscopic lung biopsy. After this, he stopped the drug but then re-started it from August 2016 to November 2021. Changes in his VC, pulmonary shadows, and serum KL-6 values were in line with his history of using topical minoxidil. His symptoms gradually improved from a few months after cessation of minoxidil use, and his CT shadows started to improve from May 2022, at 6 months after cessation of the drug.\nBased on established criteria, we made a diagnosis of DILD. The patient stopped taking minoxidil after November 2021, and by April 2023, his VC had recovered to 4.25 L, his KL-6 value was within the normal range, and his pulmonary shadows on CT had improved.",
"gender": "Male"
}
] |
PMC10656719
|
[
{
"age": 33,
"case_id": "PMC10526361_01",
"case_text": "In the emergency department, a 33-year-old man complained of persistent chest pain with chest tightness for 24 h, and complained about the excessive work pressure in those days. There was no history of hypertension, diabetes and smoking, and no family history of early onset cardiovascular disease. The blood pressure was 106/68 mmHg, there was no lung rale and heart murmur, and the heart rate was 72 beats per minute (bpm). The electrocardiogram (ECG) showed inverted TII, III, AVF, V3-V6 (Figure 1A). The serum troponin I, D-dimer, N-terminal pro-B type natriuretic peptide (NT-proBNP) and cholesterol titers were normal. The patients received medication including metoprolol, aspirin and clopidogrel, with daily doses of 25 mg, 100 mg, and 75 mg, respectively. In order to determine whether the coronary artery is narrow or not, the patient underwent coronary angiography (CAG). As a result, we unexpectedly discovered a fistula from the right coronary artery (RCA) to the LV cavity, showing a rapid flow of contrast agent from RCA into LV during diastole (Supplementary Material 1, Figure 2A), and the RCA was significantly dilated, especially at the distal end of the coronary artery (Supplementary Material 1, Figures 2B,C). Computed tomography myocardial perfusion imaging (CTP) in resting and exercise states indicated myocardial ischemia in the middle and base of the LV inferior wall (Figure 1E). Transthoracic echocardiography (TTE) showed that the diameter of the orificium fistulae in the LV lumen was 4.5 mm. A bidirectional blood flow spectrum was detected at the orificium fistulae. During diastole and systole, the maximum blood flow velocity (Vmax) was 213 centimeters per second (cm/s) and 293 cm/s, respectively, and the maximum pressure gradient (PGmax) was 18 millimeters of mercury (mmHg) and 34 mmHg, respectively. At the same time, in the middle and base of the LV inferior wall, hypokinesia was detected.\nThe patient received surgical treatment. During the operation, thrill was found in the dilated RCA, and the thrill disappeared after the fistula was sutured with 3-needle 3-0 suture with felt. Before suturing the fistula, transesophageal ultrasound showed that the diameter of the fistula in the LV was 4.7 mm, the Vmax was 265 cm/s, and the PGmax was 28 mmHg. After the fistula was sutured, the abnormal blood flow signal disappeared. However, on the third day after the operation, the TTE detected that the LV wall near the posterior mitral annulus had echogenicity from the patch, and there was a CAF on the back of the patch, indicating that the RCAF recurred. The patient had no cardiac symptoms and was discharged on the 7th day after operation. Since then, many TTEs have found diastolic blood flow signals at the outlet of recurrent fistula, but no systolic blood flow signals. The mean values of diameter, Vmax and PGmax at the orificium fistula in diastole were 3.5 mm, 210 cm/s and 18 mmHg, respectively. Low amplitude TII, III, AVF were found on the ECG (Figure 1B), and CTP did not reveal myocardial ischemia (Figure 1F). In the next five years, the patient occasionally had slight chest tightness but no chest pain. After taking metoprolol 25 mg per day, the symptoms were significantly relieved, and the frequency of attack was significantly reduced. The patient insisted on taking metoprolol for most of the time, and the related data of CAF in the patient had no significant change detected by TTE.\nHowever, on December 24, 2023, the patient suffered from Coronavirus Disease 2019 (COVID-19), developed fever and cough, and the COVID-19 test was negative 10 days later. Since then, the patient has intermittent mild palpitation, chest tightness and chest pain. After taking metoprolol, the palpitation can be reduced. After 1 month, the patient suffered from persistent chest pain and chest tightness again and went to the hospital again. The chest pain could affect the precordial area, back and left shoulder. Heart rate was 105 bpm. The troponin I (TNI) and NT-proBNP titers did not increase, but the serum endothelin 1 (ET-1) titer increased to 10.95 ng/ml. The ECG showed sinus tachycardia and inverted TII, III, AVF (Figure 1C). TTE showed that in the diastole, the diameter of the orificium fistula was 2.5 mm, and the the Vmax was 145 cm/s. Myocardial ischemia was not detected by CTP (Figure 1G). Coronary artery computed tomography scan revealed a diameter of 13.5 mm for a distal coronary artery aneurysm (CAA) in the RCA (Figure 2D). The efficacy of metoprolol at a daily dose of 25 mg was poor, and metoprolol was increased to 50 mg per day, and the heart rate decreased from 105 bpm to 70 bpm, accompanied by a significant improvement in the degree of TII, III, AVF inversion (Figures 1C,D; Table 1). After 5 days, chest tightness and pain relieved.",
"gender": "Male"
}
] |
PMC10526361
|
[
{
"age": 37,
"case_id": "PMC10482130_01",
"case_text": "A 37-year-old woman referred to Spedali Civili's Emergency Room (ER) in Brescia (Italy) for the onset of fever, refusal to eat or drink, and psychomotor impairment for a few days. She had a history of bipolar disorder, was recently diagnosed after a psychiatric hospitalisation with an episode of psychosis and treated with lithium, and she had an oestro-progestins vaginal ring.\nAt ER admission an increase of C-reactive protein, abnormal liver function, haemoconcentration, hypernatriemia and a pre-renal acute kidney injury were detected. According to the neurological status, lithiemia was tested and lithium poisoning was excluded. Vital signs and laboratory parameters are reported in Table 1.\nA computed tomography (CT) with contrast agent of the abdomen was performed because of a mild abdominal pain. This showed IVC thrombosis, occlusive thrombosis of the left lower-limb venous system and a focal right common femoral vein thrombosis (Fig. 1).\nCT imaging was extended to the chest and a bilateral massive pulmonary embolism was identified (Fig. 2). During echocardiography biventricular function was normal, without right ventricular dilatation.\nAntithrombotic therapy with enoxaparin 6000 IU bid (patient's weight 60 kg) was immediately started and the patient was hospitalised; the oestro-progestins vaginal ring was then removed. Empirical antibiotic therapy with ceftriaxone was added; results from blood cultures (carried out before starting the antibiotic therapy) were negative.\nThe prolonged psychomotor impairment was further investigated by electroencephalogram, which described the presence of non-epileptiform abnormalities with slow central-anterior waves, and by magnetic resonance imaging (MRI) which revealed CVST involving the superior sagittal sinus, right lateral sinus and right internal jugular vein. A rachicentesis could not be performed because of the ongoing anticoagulant therapy.\nDifferential diagnoses of multiple deep venous thrombosis were evaluated. Results of thrombophilia tests were negative for factor V Leiden or prothrombin mutation; levels of protein C, protein S and homocysteine were normal. Autoimmunity diseases were ruled out by finding normal levels of anti-nuclear antibodies and by excluding antiphospholipid syndrome. Moreover, myeloproliferative disorders were excluded: JAK2 mutation and paroxysmal nocturnal haemoglobinuria were absent.\nResults from a positron emission tomography were negative for vasculitis. Among the risk factors associated with venous thromboembolism, only the oestro-progestin therapy (promptly removed at admission) was present in our patient. Even dehydration could have played a role in the onset of thrombosis.\nIn summary, our patient was affected by acute hepatitis, neurological clinical manifestations suggesting encephalitis, multiple deep venous thrombosis and persistent fever, despite antimicrobial therapies. Since the unifying diagnosis could have been a viral infection, intravenous acyclovir was started empirically and specific serological examinations were performed. At the same time, the antibiotic therapy was stopped.\nSerology confirmed a VZV reactivation, detecting a level of anti-VZV IgG antibodies over the upper limit of normal and a slight increase in IgM titre. Serology was repeated during the hospitalisation, as reported in Table 2: the IgG level remained over the upper limit of detection and the IgM titre progressively became negative, as described in the literature, during VZV reactivation. Our patient had been extensively studied to find possible conditions that could have caused VZV reactivation. Among the risk factors described in the literature that were related to VZV reactivation, including age over 50 years, immunocompromised status, immunosuppressive drugs and infections, only mental stress was present in our patient. Our patient had a history of bipolar disorder, recently diagnosed after a psychiatric hospitalisation for an episode of psychosis, and her husband described the period before hospital admission as especially stressful due to the diagnosis of psychiatric disorder and the therapy undertaken.\nThe patient clinically improved after the introduction of antiviral therapy and the discontinuation of antibiotic therapy: she no longer had fever and she gradually showed a neurological improvement, which allowed her to start physiotherapy treatment. Biochemical examinations (including transaminases, white blood cell count and C-reactive protein) started to normalise (see Table 1) and a brain MRI described partial CVST recanalisation.\nAcyclovir was administered over a three-week period and antithrombotic treatment was shifted from enoxaparin to direct oral anticoagulant (apixaban 5 mg bid). The patient was discharged after about 35 days of hospitalisation, with indications for anticoagulation follow-up. A venous echo-colour Doppler, performed three months after discharge, revealed a partial recanalisation of venous lower-limb thrombosis. She is now receiving long-term anticoagulant therapy and she recovered her normal neurological status.",
"gender": "Female"
}
] |
PMC10482130
|
[
{
"age": 11,
"case_id": "PMC10742384_01",
"case_text": "We describe the case of an 11 year-old female patient affected by pre-B ALL treated according to the early non-high-risk group in AIEOP-BFM-2017 protocol. One week after the start of Protocol Ia, a staging brain MRI showed cerebral venous thrombosis, which was treated with intravenous heparin for three weeks, followed by subcutaneous injections. The patient received two doses of PEG-asparaginases on days +12 and +26, and on day +48 she presented at the Emergency Department complaining of epigastric abdominal pain worsening after meals. Blood tests showed increased pancreatic enzymes (lipase 1383 U/l, amylase 310 U/l) and coagulation alterations (PT ratio 1,22, aPTT 1,09, Fibrynogen 111 mg/dl, Antithrombin 31%, D-Dimer 1087) suggesting acute pancreatitis, which was confirmed by a CT scan showing enlarged pancreas volume with multiple hypointense areas of necrotizing pancreatitis associated with local thrombosis of the distal splenic vein, and peritoneal and pleural effusions. A nasogastric tube was positioned and fasting started. After a few hours, her general conditions precipitated into a septic-like shock state, requiring fluid boluses, albumin, fibrinogen, antithrombin III, and broad-spectrum empirical antibiotics. Echocardiography showed mild pericardial effusion and signs of myocardial injury. The clinical and laboratory manifestations progressively resolved during the following days. After two weeks, an abdominal MRI revealed the initial formation of a non-encapsulated pancreatic fluid collection along the left side and hypochondrium, measuring 13 x 7 x 7 cm (Fig.1a).\nThe patient was discharged on oral mercaptopurine and methotrexate maintenance therapy after one month of chemotherapy protocol interruption, and proceeded with the imaging and clinical follow-up for the next three months.\nThe patient continued to refer mild abdominal pain, and a cholangio MRI confirmed the persistency of an encapsulated pancreatic fluid collection without size reduction (Fig.1b). After a multidisciplinary discussion, the decision was made to perform an endoscopic-ultrasound (EUS) guided cystogastrostomy with a 10 x 10 mm lumen-apposing metal stent (LAMS) (Hot-Axios system) under general anesthesia. During the procedure, after the release of the LAMS, a 7 cm x 7 Fr double-pigtail plastic stent (DPPS) was coaxially released (Fig.2); the post-operative course was uneventful and the patient was discharged after 48 hours. Seven days thereafter, an abdominal ultrasound confirmed the complete resolution of the PCF, the LAMS was removed, and a \"soft\" DPPS 7 cm x 10 Fr (Solus-Cook ) was positioned endoscopically in the cystic cavity under endoscopic and radiological control (Fig.3). The patient was dismissed the following day without any complications, and two weeks thereafter she restarted the AIEOP-BFM-2017 protocol at Short Consolidation B, 4 months after the interruption of the consolidation phase. No pancreatic fluid collection was observed at the following abdominal ultrasounds, the latest performed 7 months after interventions, together with an abdominal x-ray that showed the persistent presence of the double pig-tail. The prosthesis removal will be scheduled together with the central venous catheter removal at the end of the maintenance phase, due in a few months, so as to perform a single sedation.",
"gender": "Female"
}
] |
PMC10742384
|
[
{
"age": 37,
"case_id": "PMC10805569_01",
"case_text": "A 37-year-old gravida 2, para 1 previously healthy woman was referred to our hospital during the summer of 2019 at 31 0/7 weeks' gestation due to severe headaches for a week and a fever of 38.9 C in her obstetrical office. Her pregnancy was complicated by a history of migraines, though this headache presented differently from her typical migraine. She described this headache as a severe frontal headache with mild photophobia and phonophobia that was not relieved with over-the-counter medication. It began during travel to Washington state in the prior week, most of which was spent in Seattle. However, she did note a brief walk in the woods but reported no tick bites, signs of tick bites, nor contact with any animals other than her own dog which showed no change in behavior. She worked as an art curator in North Carolina. Over the few days prior to admission, she developed night sweats, chills, sweating, dyspnea, and one episode of diarrhea. \n On admission, she continued to report unremitting headache. No rash, acute meningeal signs, evidence of lymphadenopathy, nor focal neurological deficits was noted. Her vital signs were normal, and fetal status was reassuring. However, laboratory assessment was significant for normal white blood cell (9.2 x 10 9 /L) with bandemia (23%) noted on manual differential, transaminitis (aspartate transaminase 104), anemia (lactate dehydrogenase 326), hemoglobin (9.7 g/dL), proteinuria (3+ on urine analysis with P:C ratio of 1,203 mg/g), and thrombocytopenia (76 x 10 9 /L). No prior history of thrombocytopenia or proteinuria was evident on her prenatal records. Infectious urine analysis and respiratory panel (including influenza) were negative. She was acutely treated for atypical HELLP syndrome, despite being normotensive, with betamethasone, intravenous (IV) fluids, and IV magnesium, while a further infectious workup was pending given her fever. Haptoglobin was normal, and a manual peripheral smear showed normal platelet counts and no evidence of schistocytes, hemolysis, or platelet clumping. Magnesium was then discontinued, with further infectious workup pursued, including lumbar puncture and a noncontrast brain magnetic resonance imaging (MRI). She was started on empiric IV vancomycin and meropenem for unknown infectious etiology. \nSix hours after antibiotic initiation, her vital signs worsened with continued fever, severe tachypnea, tachycardia, and a new oxygen requirement (89% on room air to 95% on 3-L nasal cannula). Because of this acute decompensation, she was transferred to the intensive care unit (ICU).\n Overnight, the fetal heart rate displayed repetitive decelerations to the 70 to 80 and the patient developed respiratory distress and desaturation quickly after (respiratory rate 30, heart rate 111, SpO 2 97% on 4-L nasal cannula). The decision was made to proceed with intubation and urgent cesarean section due to maternal and fetal distress. She tolerated the surgery well and was transferred back to the ICU. Neonatal condition was stable with a weight of 1,775 g and Apgar scores 9 and 9. The neonate was taken to the neonatal intensive care unit (NICU) due to gestational age. \nThe patient was started on doxycycline immediately after vancomycin was discontinued. RMSF became the presumed diagnosis due to the clinical criteria of headache, fever, and malaise, laboratory findings notable for thrombocytopenia, transaminitis, acutely worsening disease, and cerebrospinal fluid analysis consistent with aseptic meningitis. Tissue biopsies were not taken at the time of acute infection; however, the placenta was sent for pathologic evaluation. Her cerebrospinal fluid studies were consistent with aseptic meningitis. She was noted to have significant improvement with doxycycline treatment, although her postpartum course was complicated by acute kidney injury, thrombocytopenia, ileus, and stable transaminitis. Her brain MRI was unremarkable, and she was extubated 3 days later with a normal neurologic examination. She was discharged home on postoperative day 6.\n The acute RMSF antibody, which resulted after her decompensation and delivery, was negative. Microabscesses seen on pathologic evaluation of the placenta were concerning for Listeria infection. However, placental cultures for Listeria and Rickettsia were negative. Rickettsial placental immunohistochemical (IHC) staining was performed and was also negative. The patient's clinical syndrome and improvement on doxycycline were consistent with RMSF; her convalescent serologies were positive (> 1:256). The infant overall did well in the NICU and showed no evidence at delivery or in the neonatal period of RMSF or Listeria infection.",
"gender": "Female"
}
] |
PMC10805569
|
[
{
"age": 45,
"case_id": "PMC10895082_01",
"case_text": "The patient was a 45-year-old woman who underwent foramen magnum decompression in her 20s for dysesthesia in the upper and lower extremities caused by Chiari malformation type 1 with syringomyelia. Nevertheless, severe neuropathic pain in the lower extremities persisted after the surgery, and SCS was introduced nine years ago, which has been effective. The stimulation system contained non-MRI-compatible devices, such as RestoreSensor, Octad leads, and extension leads (Medtronic, MN, USA).\nThe patient requested to exchange the old devices for a full-body MRI-compatible system when implantable pulse generator (IPG) exchange was required due to its nine-year battery life after SCS introduction.\nTwo leads were inserted from the L2/3 interlaminar to the epidural space, and the tips of the leads were placed at the T7 vertebral level (Fig. 1). SCS-induced paresthesia covered the painful areas in the lower extremities, and no pain was observed in the follow-up period.\nWe considered the lead location adequate, and guiding the new leads to the same location was optimal for total SCS system replacement.\nSurgery was performed under general anesthesia, with the patient placed in the prone position. We reopened the previous skin incision in the lumbar region and traced the leads running subcutaneously to the thoracolumbar fascia penetrating point, confirming the tunnels of granulation tissue around the leads at the point: tissue sheaths (Fig. 2). The tissue sheaths formed tracts reaching the epidural space along the leads.\nWe carefully removed the old lead smoothly and inserted a new one, Vectris SureScan MRI (Medtronic, MN, USA), with a vent stylet into a tract formed around the old lead. The new lead was smoothly guided to the original epidural position. Torque was not required for epidural lead guidance. The lead advancement route was confirmed using intraoperative fluoroscopy (Fig. 3). The lead was moved rostrally and caudally within the epidural space several times and guided to the same course every time. Another lead was replaced in a similar manner. Two leads were fixed, leading to the fascia and passing the proximal sides of the leads subcutaneously toward the right buttock. We removed the old IPG and implanted a new IPG, Intellis (Medtronic, MN, USA), subcutaneously into the right buttock after connecting the entire system. Finally, the electrical resistance of the new SCS system was confirmed favorably.\nPostoperative radiographs showed that the leads were in the original place (Fig. 4). The patient received the same stimulation effect as before the replacement surgery, and the pain did not recur until the last follow-up checkup.",
"gender": "Female"
}
] |
PMC10895082
|
[
{
"age": 43,
"case_id": "PMC11380897_01",
"case_text": "A 43-year-old man was admitted to the emergency department with acute onset of loss of consciousness. He denied having any pre-existing comorbidities, and his medical history was unremarkable. His family history included the death of his father 7 months ago from pulmonary TB.\nOn arrival to the emergency room, the patient's vital signs were as follows: blood pressure, 118/85 mmHg; pulse rate, 78 bpm; body temperature, 38.3 C; and Glasgow Coma Scale, of 8 E3V1M4 with the stiffness of the neck.\nThe laboratory blood test revealed an increased of C-reactive protein (CRP) at 242.5 mg/L. Retroviral serology results were negative. The chest X-ray was normal. A computed tomography (CT) scan of the brain showed a lesion in the left lateral ventricle with minimal, fine, and complete rim enhancement. There was an enlargement of the left lateral ventricle with an isodense lesion, suggesting an intraventricular collection [Figure 1]. On brain magnetic resonance imaging (MRI), the lesion showed low signal intensity on T1-weighted (T1W) imaging and high signal on T2-weighted (T2W) imaging. Gadolinium-enhanced MRI showed thickened ependymal sheath enhancement with increasing ventricular size. In fluid-attenuated inversion recovery (FLAIR), the ventricle contains a layering of fluid and sediment. There was diffusion restriction in the posterior temporal horn of the lateral ventricle of the lesion, which was observed on diffusion-weighted imaging [Figure 2]. These radiological findings suggested the presence of suppurative fluid in the cerebral ventricles.\nThe patient was taken to the operating room for an emergency left frontal external ventricular drainage (EVD). The ventricular catheter was inserted through Kocher's point in the frontal horn. A thick, cloudy, pus-like fluid emerged from the drain. This was collected and sent for bacteriological examination. In the operative room, the drainage process was continued by negative pressure until clear cerebrospinal fluid (CSF) was obtained. After EVD placement, the patient was transferred to the intensive care unit (ICU) department.\nThe monitoring of CSF analysis and CRP were performed [Table 1]. Empirical intravenous antibiotic treatment with third-generation cephalosporin (per-operative single dosage administration) was continued after surgery. The result of Ziehl-Neelsen staining to detect acid-fast bacteria in the pus sample was positive. GeneXpert was positive for Mycobacterium tuberculosis. Antibacillar treatment was started and then continued for a total of 12 months. Antiepileptics drugs (valproic acid) were administered for a total of 3 months. In addition, intravenous corticosteroids were administered for a total of 4 weeks. Ten days after surgery, the patient was transferred to the infectious diseases department. The patient was free from the EVD catheter on day 17th. The patient recovered completely with no complications following 6 weeks of in-hospital management. He was then discharged without any motor or sensory impairments. At the 6-month follow-up, the patient was examined as an outpatient and was in good health. The patient underwent a follow-up brain scan, which was normal [Figure 3].",
"gender": "Male"
}
] |
PMC11380897
|
[
{
"age": 45,
"case_id": "PMC10731400_01",
"case_text": "A 45-year-old female patient was admitted to Jinshazhou Hospital of Guangzhou University of Chinese Medicine (Guangzhou, China) due to a right breast mass found 2 years previously and right breast ulceration for 4 months. The patient had noticed a right breast mass in February 2021 but did not pay sufficient attention to the lesion. Breast ulceration occurred in October 2022, resulting in herbs being applied to the wound, although this had no beneficial effects and the patient came to the hospital in February 2023 for further treatment. Physical examination on admission revealed ulceration of the right breast, with an ulcerated surface area of ~18x16 cm, accompanied by a foul smell, visible blood, fluid seepage and a tendency to bleed easily (Fig. 1A). Physical examination on admission in February 2023 showed a hemoglobin (HGB) level of 8.8 g/l (normal range, 13.0-17.5 g/l). On the same day, the patient underwent a PET/CT examination that showed the following results: i) Multiple nodules were identified in the right breast, with lamellar focal hypermetabolic lesions. These were consistent with the manifestations of right breast cancer. Lesions were predominantly clustered near the skin, right nipple, right chest wall and sternum body; ii) a multitude of hypermetabolic lymph nodes were observed, indicative of multiple lymph node metastases. These were situated in various locations, including the deep surface of the right pectoralis muscle, right axillary region, bilateral pulmonary hila, mediastinum, retroperitoneal area, right side of the common iliac artery, left clavicular area, left cervical zones IV and V, and right cervical zones II, III, and V; iii) both lungs exhibited multiple nodular formations with augmented glucose metabolism, suggestive of multifocal pulmonary metastases; iv) multiple nodular, hypermetabolic foci were discerned in the liver, which were interpreted as multiple hepatic metastases; and v) extensive bone metastases were evident throughout the skeletal system, accompanied by pathological fractures of the lumbar vertebrae at levels 2 and 4. The diagnoses at admission were: i) Stage IV breast cancer; ii) lung metastasis; iii) liver metastasis; iv) multiple bone metastases; and v) pathological fractures of lumbar vertebrae 2 and 4. At admission, 2023, the patient underwent a needle biopsy of the breast mass. The puncture was successful without bleeding at the puncture site. Pathological examination showed an invasive adenocarcinoma, estrogen receptors (ER+), progesterone receptors (PR+), and human epidermal growth factor receptor 2 (HER2+++; Fig. 2). As the patient's breast wound continued to ooze blood and the HGB level declined to 6.9 g/l at 3 days post-admission, 840 mg pertuzumab and 450 mg trastuzumab were administered as intravenous targeted therapy. Arterial perfusion embolization of the right lateral thoracic artery was performed at 4 days post-admission, with intraoperative angiography showing that the vessels in the tumor area had become thick and tortuous (Fig. 1B). Accordingly, 90 mg docetaxel and 200 mg carboplatin were injected through the arterial catheter and embolized the right lateral thoracic artery with a 560-microm gelatin sponge and embolized microspheres (Fig. 1C). A week after the procedure, the patient exhibited marked improvement in the breast wound, with a noticeable reduction in its size and diminished blood oozing. Furthermore, the HGB levels showed a progressive increase. By the 20th day post-chemoembolization, the ulcers in the patient's breast wound had significantly healed, displaying no signs of odor, blood oozing or effusion. New granulation tissue had also formed (Fig. 1D), and the HGB level had risen to 94 g/l. On the 21st day post-chemoembolization, the patient's overall condition was substantially improved, and there was a significant enhancement in the quality of life. Subsequently, regular antitumor therapy, including targeted therapy, chemotherapy and radiotherapy, was continued.",
"gender": "Female"
},
{
"age": 44,
"case_id": "PMC10731400_02",
"case_text": "The patient was a 44-year-old female. A physical examination in April 2021 revealed a right breast mass and axillary lymph node enlargement, although antitumor therapy was not received. The patient came to Jinshazhou Hospital of Guangzhou University of Chinese Medicine in December 2022 at which time ulceration was observed from the right nipple to the axilla. The ulceration area was ~15x12 cm with an unclear boundary and was associated with oozing of blood and yellow secretions and an odor (Fig. 3A). At 1 day post-admission, the HGB level was 7.5 g/l. A CT scan was performed on admission that showed the following results: i) Presence of right breast cancer with local skin rupture. The lesion was observed to have invaded both the breast tissue and the overlying skin anteriorly. Posteriorly, it extended into the soft tissue of the chest wall, affecting the right major and minor pectoral muscles as well as the adjacent ribs and costal cartilage, nearing the pleura; ii) multiple lymph node metastases were identified in several regions: The bilateral supraclavicular fossae, axillary areas, internal mammary chain, mediastinum, retroperitoneum, and the area at the right cardiophrenic angle; iii) multiple metastatic tumors were discerned in various locations including the subcutaneous soft tissue proper, right major and minor pectoral muscles, deltoid, latissimus dorsi, and serratus anterior; iv) multiple metastatic tumors in both lungs; v) multiple bone metastasis of the sternum, right scapula, humerus head and multiple bilateral ribs, thoracic 1, lumbar two vertebrae and accessories; and vi) a metastatic tumor of the left lobe of the liver. The diagnoses at admission were: i) Stage IV breast cancer; ii) multiple bone metastases; iii) lung metastases; and iv) liver metastases. As shown in Fig. 4, pathological examination of a breast biopsy showed invasive breast cancer, ER(+), PR (+), HER2(++) and fluorescence in situ hybridization(+). The biopsy procedure was smooth with no postoperative bleeding. Due to continuous bleeding of the ulcerated part of the breast, the patient's hemoglobin decreased to 58 g/l. At 6 days post-admission, arterial interventional chemotherapy embolization into the right dorsal thoracic artery was performed. The angiogram revealed a tortuous and thickened right dorsal thoracic artery (Fig. 3B). Subsequently, 60 mg doxorubicin and 1 g cyclophosphamide were administered directly into the artery serving the tumor area. To embolize the dorsal thoracic artery, a 350-microm gelatin sponge and embolized microspheres were utilized, continuing until the vessels were suitably occluded. A follow-up angiogram confirmed vascular occlusion (Fig. 3C). Post-procedure, the patient's HGB level steadily rose to 9.2 g/l. Due to financial constraints, the patient declined anti-HER2 medications but underwent interventional chemoembolization every 21 days. As evidenced by Fig. 3D, this intervention resulted in a consistent reduction of wound oozing in the mammary gland and subsequent wound healing. Currently, the patient remains in favorable health and persists with regular antitumor therapy in the Fifth Department of Oncology, Jinshazhou Hospital of Guangzhou University of Chinese Medicine.",
"gender": "Female"
}
] |
PMC10731400
|
[
{
"age": 24,
"case_id": "PMC10999459_01",
"case_text": "A 24-year-old woman with MMD with severe consciousness disturbance was transferred to our department. Due to the onset of left thalamic hemorrhage, she underwent bilateral indirect revascularization (encephalo-duro-arterio-myo-pericranial synangiosis for the right hemisphere and encephalo-duro synangiosis for the left hemisphere) at our institution 11 years ago. She also underwent postoperative digital subtraction angiography (DSA) 10 years ago and showed good collateral angiogenesis on both cerebral hemispheres. We retrospectively confirmed the development of the right temporal fossa TDA (Fig. 1a-b, red circle). However, the last follow-up MRI 1 year ago showed a small aneurysm in the middle cranial fossa; therefore, we decided to monitor this carefully because of the size (Fig. 1c-d, arrow).\nAt emergent admission, the patient's consciousness score was 7 points on the Glasgow Coma Scale (E1 V1 M5); her right pupil was 5 mm, and her left pupil was 3 mm. No external signs that indicated a traumatic event were found. Computed tomography (CT) showed a right ASDH with a midline shift and an atypical ICH at the bottom of the right temporal lobe (Fig. 2a-b). CT angiography (CTA) showed an aneurysm at the middle cranial fossa, which was thought to be the source of the bleeding (Fig. 2c-d, yellow arrow). We then performed emergent hematoma evacuation and decompressive craniotomy for lifesaving purposes.\nIntraoperatively, we found a bleeding dilated vessel at the temporal base, which connected the dura and brain parenchyma (Fig. 3a). We then coagulated and cut this vessel; however, we could not find the aneurysm because it was buried in a thick hematoma. The right parietal lobes, considered to be perfused by indirect bypass, showed broad ischemic changes resembling a white-colored brain (Fig. 3b). After the operation, broad infarction occurred, and collateral blood flow from the external carotid artery system and the aneurysm disappeared, as shown in the CTA (Fig. 3c and d). She was finally transferred to another hospital with a modified Rankin scale score of 5 due to a disturbance of consciousness and without rebleeding.",
"gender": "Female"
}
] |
PMC10999459
|
[
{
"age": 16,
"case_id": "PMC10846875_01",
"case_text": "A 16-year-old male patient was referred to our hospital following an 8-month history of progressively worsening visual blurring and distortion in his left eye. The patient had been previously diagnosed with a macular hole in the left eye at an external clinic and was subsequently sent to our hospital for a comprehensive examination. The patient had no significant past medical history and no known systemic or ocular diseases. There was no relevant medical history reported among his immediate family members, including his parents and younger brother. On presentation, his best-corrected visual acuity was 20/20 in the right eye and 20/200 in the left eye. The intraocular pressure in both eyes was within normal limits, and anterior segment slit-lamp examination disclosed no abnormalities.\nOptical coherence tomography of the left eye displayed a large FTMH along with a thickened PVM (Fig. 1). At the level of the minimum linear diameter, the hole measured 649 mum, and at the base, it measured 1,458 mum. Fundus photography of the left eye demonstrated proliferative vitreoretinopathy and linearized retinal vessels, indicative of FEVR (Fig. 2a). Retinal capillary hemangioma was also observed in the lower temporal area (Fig. 2b). Optical coherence tomography angiography and fluorescein angiography of the left eye revealed the presence of linearized retinal vessels and an avascular area accompanied by exudative changes, predominantly located on the temporal side (Fig. 3).\nFollowing the diagnosis of a macular hole secondary to FEVR in the left eye, the patient was deemed suitable for surgical management with pars plana vitrectomy (PPV). Prior to surgery, photocoagulation was performed on the avascular and exudative areas of the retina in the left eye. Following this, a PPV was performed to address the FTMH in the same eye. Cataract surgery was not concurrently performed, taking into account the patient's age. Encircling buckling was not deemed necessary in this case as preoperative photocoagulation was performed on the temporal retina. The surgical procedure entailed initial removal of the core vitreous gel, followed by the excision of the thick PVM from the posterior pole toward the periphery, which exhibited adhesions to the edge of the FTMH. A thin ERM was also identified around the FTMH (Fig. 4a). The inner limiting membranes (ILMs) were stained with brilliant blue G and subsequently peeled off along with the ERM. The inverted ILM flap technique was employed (Fig. 4b), succeeded by a fluid-air exchange and a 20% SF6 gas tamponade. The retinal capillary hemangioma in the lower temporal area was coagulated using endodiathermy.\nThe postoperative course was favorable, with successful closure of the FTMH evident at 1-week follow-up (Fig. 5a and b). At the 3-month postoperative mark, further improvement was observed, with the FTMH remaining closed, and enhanced structural integrity of the external limiting membrane and the ellipsoid zone compared to the 1-week postoperative assessment (Fig. 5c, d). Concurrently, there was a significant improvement in the patient's corrected visual acuity, which upgraded from 20/200 preoperatively to 20/33 at the 3-month follow-up visit. The closure of the macular hole was also confirmed in the ultra-wide field fundus photography 3 months later (Fig. 6).",
"gender": "Male"
}
] |
PMC10846875
|
[
{
"age": 72,
"case_id": "PMC10652385_01",
"case_text": "A 72-year-old man with atrial fibrillation on apixaban presented in September 2021 (Table 1) to his cardiologist with exertional chest pressure, postural lightheadedness, and fatigue for weeks. An echocardiogram and stress test were unrevealing. Cardiac catheterization showed mild, non-obstructive coronary artery disease. Cardiology lab results showed severe microcytic anemia (hemoglobin 7.0 G/DL) and primary care lab results showed iron deficiency (ferritin 7.6 NG/ML), although there was no overt GI hemorrhage. Apixaban was held, and an emergent upper and lower endoscopy was ordered.\nRelevant past medical history includes a cutaneous melanoma of the lower back that was diagnosed in 2015 by punch biopsy (Clark Level IV, Breslow Depth 2.25 mm, mitotic index approximately 1 mitosis/mm2, no significant tumor regression, epidermal ulceration, microvascular invasion, or satellite micro-metastases), which was at clinical stage IIA (T3a N0 M0) (Supplementary Figure S1). A wide local excision had negative margins, and a sentinel lymph node biopsy was negative. The pathological stage was also IIA and further staging work-up was therefore not performed based on the early stage of this typical superficial spreader. Adjuvant therapies were experimental at the time and not prescribed. Bi-annual skin and periodic ophthalmologic exams remained unremarkable. Screening colonoscopies were up to date, and a 25-mm tubular adenoma had been removed 4 years prior.\nIn October 2021, esophagogastroduodenoscopy and colonoscopy identified a gastric body polyp (Figure 1, Supplementary Figure S2), a partially obstructing ascending colon mass (Figure 2), and hepatic flexure polyp (Figure 3, Supplementary Figure S3). All three biopsies diagnosed metastatic melanoma (Supplementary Figures S4-S6). PET-CT found lung and right humeral head metastases, but none of the GI metastases were detectable. Abdomen/pelvis CT with contrast was non-contributory, but a chest CT demonstrated bilateral solid pulmonary nodules up to 2.5 cm, a 2.1 cm right humeral head lytic lesion, and a few left supraclavicular lymph nodes up to 1.0 cm, corresponding to PET-CT. A brain MRI showed left caudate and cerebellar metastases. Serum lactate dehydrogenase (LDH) was normal, but GI metastases harbored BRAF V600E, PTEN, and TERT mutations. The pathological stage was IV [rTX, N2b, M1d(0)] based on the American Joint Committee on Cancer (AJCC) 8th Edition staging system.\nThe patient's symptomatic anemia was successfully treated with two iron infusions. He underwent stereotactic radiosurgery for the brain metastases without complications. Twelve cycles of immunotherapy with nivolumab (480 mg monthly infused over 30 min) were completed in September 2022. Nivolumab-induced vitiligo developed at cycle 9 and guttate psoriasis on the chest, arms, and legs at cycle 11, the latter of which resolved with 0.1% triamcinolone cream twice daily. Shortly after cycle 12, he developed oral candidiasis, and preexisting seborrheic keratoses became inflamed, both thought to be nivolumab-induced. The former was treated with oral nystatin, and the latter with either a topical steroid or cryotherapy. Immunotherapy response was monitored with monthly circulating tumor DNA (ctDNA) levels and PET-CTs every 3 months. The patient went into remission after 3 months of immunotherapy and remains in continued remission as of July 2023. His surveillance has included brain MRI and whole-body PET-CT at baseline and every 3 months, along with ctDNA testing that was reduced from monthly after 6 months of disease-free surveillance.",
"gender": "Male"
}
] |
PMC10652385
|
[
{
"age": 49,
"case_id": "PMC11245947_01",
"case_text": "A 49-year-old female, suffering from fatigue and anorexia for one year and denying underlying medical history, was transferred to our hospital after 10-day hospitalization in local hospital with blood creatinine level of 14.52 mg/dl and her urinalysis results showed 795 white blood cells (normal range 0-17/l), and 3419 bacteria per high-power field (normal range 0-130/microl), as well as 1 + protein and negative nitrite. She complained of urinary urgency frequency and dysuria for 4 days before transferring. She had no fever, flank pain or costovertebral angle tenderness and was not catheterized. On admission, her vital signs were normal. Initial blood tests revealed a white blood cell count of 6.67 x 10e9 /L with a differential of 77 % neutrophils and 14 % lymphocytes, hemoglobin level of 71 gr/dL, platelet count of 117 x 10e9 /L. Her urine sample was sent to the laboratory for culture. Urine MALDITOF-MS (Matrix Assisted Laser Desorption Ionization Time of Flight Mass Spectrometry) revealed aeromonas caviae of more than 100,000 colony-forming units, resistant to ceftazidime (MIC >= 64 ug/ml), aztreonam(MIC >= 64 ug/ml), ciprofloxacin (MIC >= 4 ug/ml), cotrimoxazole (MIC = 8/152 ug/ml), and intermediately sensitive to cefepime (MIC = 8 ug/ml), whereas sensitive to meropenem (MIC <= 0.25 ug/ml), amikacin (MIC <= 2 ug/ml), and piperacillin/tazobactam (MIC <= 4 ug/ml). The bone marrow exam coupled with cytometry revealed the new diagnosis of multiple myeloma.\nRegarding the symptomatic urinary tract infection, the patient was administered 450 mg of intravenous piperacillin/tazobactam every 12 h for 7days based on the susceptibility data. She was clinically improved. The patient received routine renal dialysis treatment and finished chemotherapy. On follow up, she is still free of UTI symptoms and generally well until now.",
"gender": "Female"
}
] |
PMC11245947
|
[
{
"age": 71,
"case_id": "PMC11220513_01",
"case_text": "A 71-year-old male with no relevant medical history presented with increased cognitive dysfunction and left paraplegia. The patient was a current smoker (18 cigarettes per day) and had been smoking for the past 51 years. At a previous hospital, the patient was diagnosed with pulmonary adenocarcinoma in the right upper lobe with SSBM and cT1bN0M1b Stage IVA disease. In accordance with NCCN guidelines, resection of the brain tumor and appropriate chemotherapy regimen based on the immunohistochemical examination results and genetic mutation status were planned. Surgical resection of the brain tumor in the right frontal lobe was performed by a neurosurgeon, and the patient received intensity-modulated radiotherapy of 50 Gy/25 Fr (Fig. 1).\nPathological examination of the resected brain tumor revealed that it was an adenocarcinoma, diagnosed as a metastasis of lung cancer. The samples were negative for driver gene mutations and translocations. Immunostaining revealed that 75 % of the tumor was positive for programmed cell death ligand 1 (PD-L1) (Fig. 2).\nAfter four cycles of chemotherapy with carboplatin (AUC = 6, day 1), pemetrexed (500 mg/m2, day 1), and atezolizumab (1200 mg/body, day 1), the thoracic lesion decreased in size on chest computed tomography (Fig. 3), and the treatment response was partial response (PR) according to the Response Evaluation Criteria in Solid Tumors (RECIST).\nAfter local treatment for brain metastasis and systemic chemotherapy, including ICIs, the brain metastases disappeared and the surrounding edema improved (Fig. 4). And the primary thoracic lesion was well controlled and new distant metastasis was not detected. Positron emission tomography revealed that the maximum standardized uptake value of the primary thoracic lesion before chemotherapy was 4.3, decreasing to 1.2 after chemotherapy. However, the uptake value remained constant. Based on the results of reevaluation of staging, the disease was determined to be ycT1bN0M1b Stage IVA. Thus, robot-assisted right upper lobectomy was performed for local control of the pulmonary lesions. Pathological examination revealed no viable tumor cells, indicating pCR (Ef.3) (Fig. 5). The final pathological staging was ypT0N0M1b Stage IVA. The patient was discharged without complications. He is currently undergoing 13 cycles of maintenance therapy with atezolizumab (1200 mg/body, every 3 weeks), and after 1 year of treatment, no recurrence was observed.",
"gender": "Male"
}
] |
PMC11220513
|
[
{
"age": 13,
"case_id": "PMC10742369_01",
"case_text": "A 13-year-old male from a rural area consulted an outpatient center with a 1-month history of fever accompanied by asthenia and weight loss. As an antecedent, dental cleaning was done seven days before the onset of the fever. Cytomegalovirus, Ebstein Barr, Herpesvirus, toxoplasmosis, HIV, dengue, and Chagas infections were ruled out. Blood cultures were negative, and the patient was referred to the oncology service for evaluation, A bone marrow aspirate ruled out lymphoproliferative syndrome. An echocardiogram was requested to rule out endocarditis. The echocardiogram found a coarctation of the aorta, without valvular or mural vegetation (Figure 1A). The angior sonance showed alteration in the thickness of the aortic walls at the level of the aortic arch with an area of coarctation, suggesting an inflammatory type of alteration. Takayasu disease was excluded. The angiotomography confirmed aortic coarctation without aneurysms (Figure 1C). Additionally, an area of splenic infarction was evidenced. The patient remained febrile and presented erythematous lesions in the nail beds of the lower limbs during fever peaks. He was referred to our institution after two months of febrile symptoms and was admitted with a weight of 39 kg, blood pressure in the right upper limb of 139/92 mm Hg, and 109/78 in the ipsilateral lower limb. He did not present murmurs on auscultation. Laboratory tests showed 12,000 leukocytes with 80% segmentation, C-reactive protein of 46.50 mg/L, and erythrocyte segmentation rate of 38 mm/second. The transesophageal echocardiogram showed a functional bicuspid aortic valve with mild aortic regurgitation, without any image suggestive of vegetation (Figure 1B). At the level of the descending aorta, the area of coarctation showed wall thickening after the obstruction with hyper-refringent images suggestive of 1-mm vegetations and without images of aneurysms. Two additional blood cultures showed growth of penicillin-sensitive Streptococcus mitis. A penicillin G scheme was administered for six weeks. The evolution was favorable with remission of fever, negative blood cultures, normalization of acute phase reactants, and weight recovery. Subsequently, the patient was taken for endovascular repair of the aortic coarctation.",
"gender": "Male"
},
{
"age": 9,
"case_id": "PMC10742369_02",
"case_text": "A 9-year-old male was assessed for arterial hypertension (>=95 percentile), diagnosed 28 days before admission, and treated with angiotensin-converting enzyme inhibitors. He reported a history of fever that required hospitalization for 15 days in another hospital, with weight loss and asthenia. At clinical assessment, the following findings were noted: blood pressure in the upper right limb of 121/80 mmHg and in the ipsilateral lower limb of 94/66 mmHg for a clinical gradient of 27 mHg in systolic blood pressure, with decreased arterial pulses in the lower limbs. Auscultation revealed the presence of a GII/VI systolic murmur in the second left intercostal space. Chest X-ray showed normal cardiothoracic relationship with dense left paracardiac image. The echocardiogram showed an aortic arch with a reduced diameter at the level of the descending aorta with a gradient of 34 mmHg. Additionally, a left paracardiac tumor of 70x80 mm generated compression of the middle portion of the right pulmonary artery with a gradient of 32 mm Hg (Figure 2A and 2B). Chest computerized tomoangiography was performed and confirmed the presence of aortic coarctation with a post-stenosis saccular image that produced a compression effect toward the right pulmonary artery (Figure 2C). The patient presented significant hematemesis, for which an upper digestive endoscopy was performed and the origin of the bleeding was not identified. Varicose esophageal veins and peptic ulcer disease were excluded. Therefore, the cardiac catheterization was performed and confirmed the presence of a reduced diameter area in the descending aorta with a gradient of 34 mm Hg, after which there was saccular dilation of the descending aorta measuring 80x90 mm in diameter. Surgery was planned, but 16 hours after the catheterization, he presented a new episode of copious hematemesis with hypovolemic shock, cardiac arrest, and died.",
"gender": "Male"
}
] |
PMC10742369
|
[
{
"age": 24,
"case_id": "PMC11105948_01",
"case_text": "A 24-year-old female, Para 2002, visited the Gynecology Department at our hospital with complaints of lower abdominal pain, hematuria (blood in urine), and persistent pain during urination for the past three months. She mentioned that an intrauterine contraceptive device (IUCD) had been implanted by a midwife on January 12, 2019, and she had not experienced any issues or received any follow-up care since then. A year later, she became pregnant and delivered a baby vaginally. During her pregnancy, she primarily received antenatal care from a midwife and consulted with an obstetrician only twice. It is possible that during the ultrasound examination, the physician focused solely on intrauterine conditions and did not fully explore the pelvic cavity, leading to the missed diagnosis of an ectopic IUCD. As a result, she was unaware of the IUCD's presence at that time, assuming it had been expelled. She has no history of curettage, cesarean section, or other major gynecological surgeries.\nThe pelvic examination showed normal results, but the urinary sediment indicated a urinary tract infection. Initially, she was diagnosed with cystitis and prescribed antibiotics by a general practitioner. However, her symptoms did not improve, leading to her being referred back to our department. During an ultrasound examination on February 2, 2023, no signs of an IUCD were found in the uterine cavity, but an IUCD was detected in the bladder (Figure 1). This indicated that the IUCD had perforated the uterus and migrated into the bladder.\nThe patient's laboratory tests showed normal results, but the urinalysis detected a significant presence of red blood cells and white blood cells. A plain abdominal X-ray revealed the presence of a T-shaped IUCD in the pelvic area (Figure 2). The cystoscopy procedure was conducted under regional anesthesia at our hospital. We utilized a 19 French cystoscope equipped with a 30 lens. During the cystoscopy, we observed that the intrauterine contraceptive device (IUCD) was located within the bladder. The distal tip of the IUCD was found to be embedded in the posterior wall of the bladder (Figure 3(a)), while the two short arms of the IUCD were adhered to the mucosal layer of the posterior bladder wall (Figure 3(b)). Encrustations were observed, but no calculi were detected in the bladder cavity. We successfully removed the IUCD using forceps guided by the cystoscope (Figures 3(c) and 4). Following the removal, we conducted a postremoval cystoscopy to reevaluate the bladder and ensure that there were no stones, foreign objects, or bleeding points present. Cystography showed no evidence of a fistula or other major defects on the bladder wall (Figure 3(d)). Subsequently, we emptied the bladder, and the surgical procedure was concluded. Following the operation, a Foley catheter was inserted, and the patient's recovery was without complications. The patient was discharged in good condition the day after the procedure, following catheter removal, without reporting any complications. During a follow-up visit, the patient showed no symptoms or significant clinical findings. We also offer patients hormonal contraceptive methods and IUCDs as future contraceptive options. At that time, she chose to use oral contraceptives.",
"gender": "Female"
}
] |
PMC11105948
|
[
{
"age": 47,
"case_id": "PMC11019371_01",
"case_text": "A 47-year-old man with a history of congenital heart disease presented seeking alternatives to surgical management for a cosmetically bothersome left lobe thyroid nodule associated with compressive symptoms while wearing a buttoned collar. Ultrasound of the thyroid revealed a solid, mildly hypoechoic nodule nearly replacing the left lobe measuring 42 x 23 x 29 mm (14.7 mL) ( Figure 1 ). Fine needle aspiration demonstrated benign cytology. The patient was biochemically euthyroid with a baseline TSH of 1.37 mIU/L (0.4-4.1 mIU/L). The patient opted to undergo radiofrequency ablation. On the day of the procedure, the patient was given 1 mg of Xanax for anxiolytic effect, and 1% lidocaine without epinephrine was infiltrated in the skin at the planned needle entry site and around the anterior thyroid capsule to provide local analgesia. A 7-cm-length, 18-ga, 1-cm active tip, internally cooled radiofrequency (RF) electrode (Well-Point RF Electrode, Taewoong Medical, Seoul Korea) was used via the trans-isthmic approach with moving shot technique. Power was initiated at 35 W, and a maximum power of 60 W was used. The patient tolerated the procedure well with only transient pauses for discomfort. Upon completion, ultrasound imaging confirmed typical hypo- and hyperechoic changes consistent with treatment effect throughout the entire volume of the nodule; there was no evidence of immediate complication, and the patient was discharged 60 min after the completion of the case.\nOne week post-RFA, the patient reported transient anterior neck discomfort associated with mild erythema for 24 h, which resolved without intervention ( Figure 2A ). Ultrasound performed within 1 day of complaint demonstrated the continued presence of expected post-treatment changes including a non-distinct anterior border in close proximity to the treatment zone, however, with no evidence of extrathyroidal fluid extravasation ( Figure 3A ) or evidence of active bleeding ( Figure 3B ).\nAt 4 weeks post-RFA, the patient reported mild, recurrent 3/10 anterior neck pain associated with redness and swelling ( Figure 2B ). The maximum temperature measured at home was 100.0 F. The patient also reported dental work 2 days prior to recurrent pain. The patient presented to a local facility for evaluation, and contrast-enhanced neck CT showed a 3.3 cm x 2.1 cm x 3.5 cm (AP x TR x CC) low-density perithyroidal fluid collection contiguous with the treated thyroid nodule with peripheral enhancement deep to the sternocleidomastoid muscle associated with edema and reticulation of the overlying subcutaneous tissue and skin ( Figure 4 ) consistent with thyroid nodule rupture. Findings were confirmed on subsequent ultrasonography ( Figure 5 ). Because of the recent dental procedure and concern for potential infection, Augmentin 500-200 mg daily for 10 days was initiated and surveillance was continued.\nThe patient reported resolution of pain after 3 days with persistent prominence of the left neck. Over the course of the next 3 months, the patient reported slow resolution of neck fullness. Progress was monitored with ultrasound imaging over the course of 1 year following RFA ( Figure 5 ) demonstrating progressive resolution of rupture findings. Ultimately, there was a 93% nodule volume reduction from baseline without development of recurrent pain or thyroid hormone dysfunction [TSH of 1.51 mIU/L (0.4-4.1)] at 1 year post-RFA.",
"gender": "Male"
}
] |
PMC11019371
|
[
{
"age": 46,
"case_id": "PMC10984608_01",
"case_text": "This clinical case features a 46-year-old premenopausal woman, Eastern Cooperative Oncology Group Performance Status of 1, with no relevant medical history, including no familiar history of cancer. She was nulliparous and had never used oral contraceptives.\nOn self-examination, she noticed a lump in her right breast and was very symptomatic, complaining of pain in her right arm. On clinical examination, there was no cervical or supraclavicular adenopathy. She had a nodular mass measuring 40 x 20 mm in the transition of the inferior quadrants of the right breast, as well as thickening of adjacent skin without ulceration. Another nodule was present in the lower outer quadrant of the right breast, measuring 20 mm, and axillary lymphadenopathy, measuring 40 x 30 mm.\nA breast ultrasound was performed, showing several nodules in the right breast, suggestive of multicentric breast cancer (BI-RADS 5). The biggest nodule, measured 46 x 21 mm, was located in the retroareolar region with contact with the adjacent skin. The second biggest nodule was located in the transition of the inferior quadrants, measuring 21 x 13 mm, and was also in contact with the adjacent skin. The ultrasound also identified several right axillary enlarged lymph nodes, the largest measuring 41 x 33 mm and another measuring 21 x 15 mm. There were no abnormalities in the contra-lateral breast or in the left axilla.\nA core needle biopsy was performed, revealing an LCNEC composed of nests of large cells (Figure 1) with prominent nucleoli showing expression of CgA and Syn, Ki67 50%, with lymphovascular invasion, ER 70%, progesterone receptors 1%, HER2 negative (score 1+ by immunohistochemistry), E-cadherin positive, CK19 positive and GATA3 positive (Figure 2). Carcinoma in situ was not found. The axillary biopsy showed a malignant neoplasm with the same characteristics. Genetic testing of 18 genes (including BRCA 1/2) found no pathogenic variants.\nAn FDG-PET scan showed a multifocal malignant lesion with a high metabolic index (maximum standardized uptake value (SUVmax) 9.4) in the right breast with local cutaneous invasion, as well as right axillary lymphatic metastasis (SUVmax 10.1), a lytic bone lesion in the left iliac bone (SUVmax 3.7) and muscular metastasis in the deltoid (SUVmax 13.2) and supraspinous (SUVmax 10.4) right muscles. Bone scintigraphy showed no blastic bone metastasis. Breast magnetic resonance imaging was not performed due to the FDG-PET result. Ca15.3 was normal.\nIn conclusion, it was an LCNEC of the breast, luminal B-like, HER2 negative and according to the 8th edition of the American Joint Committee on Cancer, it was a stage IV tumor. The case was discussed in the Multidisciplinary Tumor Board (MTB). As it was an oligometastatic disease in a very symptomatic patient and the biopsy showed a high Ki67, it was decided to proceed with chemotherapy. The patient started chemotherapy with weekly Paclitaxel. She completed 12 cycles with good tolerance and no significant toxicities.\nA reevaluation of FDG-PET was performed, showing a reduction in the size and metabolic activity of the breast and axillary disease and a complete response of the bone and muscular metastasis.\nThe case was discussed in MTB, and considering the radical aim of the treatment in an oligometastatic disease and respecting the patient's will, it was decided to proceed with breast surgery. The patient was submitted to modified radical right mastectomy and bilateral oophorectomy. The surgical specimen showed a complete response in the breast, with an inflammatory infiltrate and 7 metastasized lymph nodes out of a total of 22 removed. The pathological staging was ypT0 N2a R0, stage III.\nThe case was rediscussed in MTB, and it was decided to complete radical treatment with radiation therapy to the right thoracic wall and lymph nodes and to initiate ET associated with a CDK4/6i. After radiation therapy, an aromatase inhibitor and a CDK4/6i were started. The patient is taking the medication with good tolerance, presenting only grade 2 neutropenia and no need for dose adjustments or delays. She has no symptoms, and her last follow-up FDG-PET, 19 months after ET and CDK4/6i, showed no signs of malignant disease.",
"gender": "Female"
}
] |
PMC10984608
|
[
{
"age": 35,
"case_id": "PMC11258372_01",
"case_text": "This is the case of a 35 year old patient with Marfan syndrome who was followed for a type B3,11aortic dissection and thoraco-abdominal aortic aneurysm that progressed despite optimal blood pressure control. The patient's past medical history included a 50 mm aortic root aneurysm and mitral valve regurgitation treated with valve sparing aortic root reconstruction with mitral valve repair three years previously, and remote scoliosis surgery.\nGiven the progression of dissection and aneurysm, the patient underwent open repair via a left thoracotomy approach; the proximal descending thoracic aorta was repaired with a 28 mm Dacron tube graft (Gelsoft Plus, Vascutek, Terumo Aortic, Scotland) under cardiopulmonary bypass and deep hypothermia. A bifurcated aortobi-iliac graft (Gelsoft Plus, Vascutek, Terumo Aortic, Inchinnan, UK) was used to repair the thoraco-abdominal aneurysm. Chest tubes were inserted on the left side. The patient was transferred to the intensive care unit (ICU) for post-operative care.\nIn the immediate post-operative period, the patient's first X-ray showed a residual left sided apical pneumothorax as well as bilateral opacities predominating on the left (Fig. 1). On the second and third post-operative days, the opacities on the left side persisted, despite successful weaning of mechanical ventilation and of supplementary oxygen. Prior to extubation, the ICU team performed a bedside bronchoscopy to investigate the mismatch in the pulmonary imaging and the clinical evolution of the patient. Apart from some clear bronchial secretions, the bronchoscopic findings were unremarkable, but no detailed report was provided.\nThe patient was extubated successfully and transferred out of the intensive care unit without supplementary oxygen requirements. Within 24 hours, the patient had his first episode of non-massive haemoptysis and noted increased work of breathing associated with pleuritic left sided chest pain. He remained afebrile, haemodynamically stable, and was saturating at 100% on room air. On physical examination, he had poor air entry over the left lung field. His laboratory work showed leucocytosis (white blood cells 21 x 109/L) and elevated C-reactive protein (385 mg/L).\nThe patient underwent an urgent thoracic CT angiogram, which showed a tapered obliteration of the proximal left upper pulmonary artery, obliterated left upper bronchus, and poorly enhancing left upper and lingular lobe consolidated atelectasis (Fig. 2). There was a patent left lower pulmonary artery; however, the left lower lobe bronchus was not well visualised. There was also enhancing left lower lobe consolidated atelectasis.\nA diagnosis of left upper lobar torsion was suspected. This was confirmed by repeat bronchoscopy where the bifurcation to the left upper and lower lobes were not visualised.\nOn post-operative day 6, the patient underwent a thoracotomy via the previous incision in the lateral decubitus position. The left upper lobe appeared torted and congested while the lower lobe was ventilating well. The patient was placed on full cardiopulmonary bypass to alleviate the risk of manipulating the lung off bypass and to allow operating in a less congested thoracic cavity without a filled heart. Ventilation was maintained with double lumen intubation, and the left upper lobe was detorted manually and began to ventilate well.\nThe left upper lobe appeared significantly congested; however, there were no signs of necrosis, infection, or abscess. Given the viable appearance and perfusion of the lung, it was left intact and was plicated at three points to avoid further torsion events. To reduce the risk of future graft infections of the thoracic aortic graft, a serratus flap was mobilised and brought down onto the descending thoracic aorta.\nThe patient self-extubated on post-operative day 7 and was re-intubated on post-operative day 11 for persistent hypercapnic respiratory failure secondary to multifocal pneumonia and presumed left upper lobe infarction. Bronchoscopy done on post-operative day 17 due to ongoing haemoptysis identified diffuse oedema of the left lung with friable mucosa. The patient was eventually extubated on post-operative day 19 and recovered. The patient continued to receive antibiotics during his admission and was discharged with a course of oral antibiotics with a total duration of antibiotic therapy of approximately eight weeks.\nDuring scheduled follow up eight weeks post-operatively, the patient had imaging findings consistent with progression of left upper lobe necrotic consolidation with a residual gradually improving productive cough with brown sputum (Fig. 3A). At six months, the patient was doing well clinically with mild respiratory symptoms, such as cough and bronchiectasis, and stable repeat imaging (Fig. 3B). The main symptom was dyspnoea on exertion; however, he was quite functional without major limitations in daily activities. There have not been any episodes of pneumonia following discharge from hospital. The patient will continue to be followed as an outpatient at six month intervals.",
"gender": "Male"
}
] |
PMC11258372
|
[
{
"age": 47,
"case_id": "PMC10805407_01",
"case_text": "A 47-year-old woman with metastatic cutaneous melanoma treated with Ipi/Nivo was referred to ocular oncology clinic for evaluation of multifocal bilateral choroidal lesions concerning for possible choroidal metastasis. She was diagnosed with cutaneous melanoma 6 years prior with metastatic disease to the brain and abdomen discovered 4 years later. On presentation to our clinic, she reported symptomatic floaters while concurrently receiving treatments of nivolumab. Her presenting visual acuity was 20/20 and 20/25, and intraocular pressures were 13 and 11. External examination revealed poliosis of her eyebrows and eyelashes (Fig. 1). Fundus photography was notable for multiple 1-3 disc-diameter flat hypopigmented/amelanotic placoid areas exposing underlying choroidal vessels in both eyes (Fig. 2a, b). OCT through the lesions demonstrated choroidal hyporeflectivity without retinal elevation (Fig. 2c-f). No other attributable cause for her floaters was found on exam. Treatment-related depigmentation of uveal tissues was suspected. The patient continued Ipi/Nivo therapy for six more months but subsequently stopped therapy due to severe acute pancreatitis and autoimmune hypophysitis. Fundoscopic examination 1 month after stopping therapy demonstrated further depigmentation/blanching of the previously identified hypopigmented areas in both eyes. There was no evidence of enlargement or development of new areas of involvement (Fig. 2g, h). Fluorescein angiography showed early window defects through the affected areas with normal perfusion and no evidence of vasculitis (Fig. 2i-l).\nAt her most recent ophthalmologic examination, nearly 20 months after initial presentation, the patient had remained off all therapy for 13 months and stated her floaters were unchanged OU. The choroidal lesions were unchanged from her most recent visit but remained more blanched than her original exam (Fig. 2m, n). In speaking with the patient nearly 3 years after her initial encounter, her vision is stable, and her floaters remain unchanged OU.",
"gender": "Female"
}
] |
PMC10805407
|
[
{
"age": 35,
"case_id": "PMC11318471_01",
"case_text": "A 35-year-old man with no past medical history presented to the emergency department in July 2023 with a 24-hour history of fever, vomit, frontal headache and myalgia. He lived in a rural area of Tuscany (Italy) and he reported gardening ten days prior to presentation.\nOn physical examination, the patient was alert (Glasgow Coma Scale 15), febrile (temperature 38.6 C), with peripheral oxygenation 97 % in room air and blood pressure 110/70 mmHg. Mild neck stiffness and positive left Lasegue sign were reported. No neurological deficits or cutaneous rash were observed. Blood tests showed normal white blood cells (WBC) count, C reactive protein (CRP) 1.08 mg/dL (reference value < 0.5 mg/dL), procalcitonin 0.03 ng/mL (reference value < 0.5 ng/mL), fibrinogen 599 mg/dL, lactate dehydrogenases (LDH) 629 U/L, normal kidney and liver function. Brain CT scan and chest X-ray were unremarkable.",
"gender": "Male"
},
{
"age": 18,
"case_id": "PMC11318471_02",
"case_text": "A 18-year-old man with no past medical history presented to the emergency department in July 2023 with a 24-hour history of frontal headache and vomiting. He lived in Tuscany, and worked as a waiter in a restaurant in a rural area. On physical examination, the patient was alert (Glasgow Coma Scale 15) and afebrile. Mild neck stiffness, but no neurological deficits were described. Blood tests showed normal WBC count, CRP 2.1 mg/dL, procalcitonin 0.02 ng/mL, fibrinogen 504 mg/dL, normal kidney and liver function. A brain CT scan and a chest X-ray were unremarkable. As headache did not resolve with anti-inflammatory drugs, lumbar puncture was performed, and the physical examination showed slightly turbid fluid with 1092 cells/mm3 (prevalence of monocytes), with normal glucose (66.0 mg/dL, 61 % of plasma glucose) and slightly increased protein (77.0 mg/dL) levels. A multiplex PCR panel on CSF resulted negative. Ceftriaxone 2 g IV q 12 h and acyclovir 750 mg IV q 8 h were started. PCR for TOSV RNA on CSF resulted positive. The serology for TOSV turned positive for both IgM (index 2.4, negative value < 0.8) and IgG (index 4.4, negative value < 0.8) (Table 1). CSF and blood cultures turned negative. Antibiotic and antiviral treatments were discontinued and the patient was discharged home with no sequelae at follow-up.\nA lumbar puncture was performed, revealing a slightly turbid (\"opalescent\") fluid, with 1192 cells/mm3 (78.4 % mononuclear), hypoglycorrhachia (29 mg/dL, 30 % of serum glucose) and hyperproteinorachia (228.0 mg/dL). A multiplex polimerase chain reaction (PCR) panel including Escherichia coli, Haemophilus influenzae, Listeria monocytogenes, Neisseria meningitidis, Streptococcus agalactiae, Streptococcus pneumoniae, Cytomegalovirus, Enterovirus, Herpes simplex virus 1 - 2, Human herpesvirus 6, Human parechovirus, Varicella zoster virus, Cryptococcus neoformans/gattii performed on CSF resulted negative. Pending culture results, the patient was started on ceftriaxone 2 g intravascular (IV) q 12 h and ampicillin 3 g IV q 6 h. Five days after collection, the CSF and blood cultures turned negative. Taking into account the local and seasonal epidemiology we performed a serology for TOSV, with detection of positive IgM (index 9.6, negative value < 0.8) and IgG (index 3.0, negative value < 0.8) (full diagnostic workup reported in Table 1), therefore antibiotics were suspended. The patient recovered well with no sequelae.",
"gender": "Male"
}
] |
PMC11318471
|
[
{
"age": 64,
"case_id": "PMC10789916_01",
"case_text": "A 64-year-old man presented to our emergency department with a lower abdomen crushed between iron plates weighing approximately 2 tons at work. His past medical history included hypertension and hyperlipidemia. His consciousness level on admission was clear, and his vital signs were as follows: blood pressure of 78/53 mm Hg, heart rate, 133 beats per minute; respiratory rate, 25 breaths/min; blood oxygen saturation, 99% (O2: 10 L/min); and body temperature, 36.1 C. Physical examination revealed that the pulses of the left dorsalis pedis artery were not palpable, and his left limb was cold.\nAlthough blood circulation was barely maintained in this case, we decided to conduct whole-body enhanced CT next to the primary survey because the hybrid ER enabled safe performance of CT even in patients with hemodynamic instability as long as the airway and breathing were intact. Whole-body enhanced CT was conducted six minutes after arrival. The scan showed active intraperitoneal hemorrhage from the mesentery of the small intestine and kidney; adrenal injury with extravasation; stable pelvic ring fracture (left pubis and ischium); right transverse process fracture of the 1st, 2nd, and 5th lumber vertebrae; and common iliac artery occlusion and dissection (Figure 1). Laboratory data showed a serum hemoglobin level of 12.1 g/dL, platelet count of 224 x 103/muL, prothrombin time-international normalized ratio of 1.1, and fibrinogen level of 220 mg/dL. Metabolic acidosis markedly deteriorated with a base excess of -19.1 mmol/L. His Injury Severity Score was 26, the Revised Trauma Score was 6.08, and the probability of survival according to the Trauma and Injury Severity Score method was 63.5%.\nAfter CT, his systolic blood pressure dropped to 50 mm Hg, and crash laparotomy was performed immediately after endotracheal intubation and Resuscitative Endovascular Balloon Occlusion of the Aorta (REBOA) via the right femoral artery. Because the patient experienced CPA during laparotomy, we performed chest compression, manually clamped the abdominal aorta, and intravenously injected 1 mg of epinephrine. Two minutes after the cardiac arrest, spontaneous and sustained heart rhythm restarted. We soon established REBOA in Zone I and started controlling the bleeding and contamination for DCS. Intraperitoneal findings showed a tear in the small intestine; the sigmoid was extensively crushed at the root, and bleeding from the small mesentery continued. The retroperitoneal tissue was also severely crushed to an oozing state, and the pulses of the left common iliac artery were not palpable from the bifurcation.\nWe resected the small intestine (150 cm) without anastomosis and performed a gauze packing of the retroperitoneum. To control damage and intraperitoneal contamination, we selected endovascular treatment for common iliac artery occlusion and performed temporary abdominal closure using ABTHERA . In addition, we performed transarterial embolization (TAE) for renal and adrenal extravasation using a gelatin sponge. Finally, stent grafting was performed in the left iliac artery (Figure 2).\nAll examinations and therapeutic procedures were performed within 6 h of arrival: 46 min for surgery, 33 min for TAE, 3 h for stent graft, and 0 min for patient transfer (Figure 3). The intraoperative transfusions included 18 units of packed red blood cells, 20 units of fresh frozen plasma, and 20 units of platelets. A second operation involving ileocecal resection, retroperitoneal tissue repair, and conventional abdominal closure was performed the following day. The patient recovered after overcoming surgical complications and was discharged with only minor gait disturbance on day 143.",
"gender": "Male"
}
] |
PMC10789916
|
[
{
"age": 51,
"case_id": "PMC11043801_01",
"case_text": "A 51-year-old male patient presented with bilateral lower extremity numbness, starting spreading from the right sole two months before presentation. The patient also demonstrated consecutive gait disturbances and was admitted to our hospital. He could not walk independently. Left- and right-sided paralyses were observed in the lower limbs, and the manual muscle testing (MMT) results were as follows (right/left): hip flexors, 4/4; knee extensors, 3/3; ankle dorsiflexors, 4/4; extensor hallucis longus, 4/4; and ankle plantar flexors, 4/4. Decreased thermal and pain sensation of the trunk below the point 3 cm caudal to the umbilicus and bilateral lower extremities was observed. Touch sensation was also reduced on the bilateral lower extremities. In addition, decreased left-dominant deep sensitivity of the lower extremities was severe. Although the patient did not use a catheter, he experienced difficulty urinating and constipation. The modified McCormick scale) was grade IV.\nMagnetic resonance imaging (MRI) revealed a slightly high-intensity mass lesion on T2-weighted images, an iso-intensity lesion on T1-weighted images, and homogeneous enhancement at the level of the Th9-10 vertebrae (Fig. 1A-C). The MRI also showed widespread spinal cord edema extending from Th2 to the conus medullaris. Contrast-enhanced computed tomography revealed abnormal vessels running along the spinal cord's dorsal surface, suggesting a feeder or drainer for the lesion (Fig. 1D). The mass lesion had intramedullary and intradural extramedullary components and seemed to contact the dura mater (Fig. 1E-F). Spinal angiography revealed a mass lesion with light enhancement, fed by the radiculopial artery from the right Th11 intercostal artery (Fig. 1G-I). Preoperatively, the patient was diagnosed with a hemangioblastoma or meningioma, and tumor resection was performed.\nBilateral partial laminectomy at Th8 and laminectomies at Th9-10 were performed. Following the dura incision, a hemangioma-like lesion extending from the extramedullary lesion to the intramedullary lesion and a dilated posterior spinal vein draining craniocaudally from the lesion was observed (Fig. 2A). Attachment to the dura mater was not observed. Intraoperative fluorescence imaging revealed poor blood flow associated with the tumor. After disconnection of the small vessels, which were considered feeders, the drainer was cut, and the tumor was resected en bloc (Fig. 2B-D). The pia mater on the dorsal surface of the extramedullary lesion was not observed. The continuity of the pia mater on the spinal cord was broken in the intramedullary component region. However, it was difficult to detect the border between the intramedullary and extramedullary components based on the pia mater and the tumor involvement. HE staining showed that the capillary vessels clustered and proliferated in a lobulated form (Fig. 3A-B). Immunostaining was positive for CD31 and CD34 and negative for EMA, D2-40, and STAT6 (Fig. 3C-D). The histological diagnosis was a capillary hemangioma.\nFour months after the surgery, the patient was discharged from the convalescent rehabilitation ward. Motor paralysis was improved, and the MMT results were as follows (right/ left): hip flexors, 5/5; knee extensors, 5/5; ankle dorsiflexors, 4/4; long toe extensor, 4/4; and ankle plantar flexors, 4/4. He could walk with Lofstrand crutches. Although the impairment of pain, touch, and vibratory sensation partially remained, preoperative severe impairment of these sensations around the feet was relieved. Bowel and bladder problems were not observed, and the modified McCormick scale improved to grade III. Postoperative MRI showed improvement in spinal cord edema and no residual tumors (Fig. 3E-F).",
"gender": "Male"
}
] |
PMC11043801
|
[
{
"age": 63,
"case_id": "PMC10784753_01",
"case_text": "A 63-year-old man came to our hospital with the first-presenting psychiatric symptoms, including confusion (Disorder of thinking, behavior, and language), ramblings, grabbing things aimlessly, and relieving himself at will (Do not go to the toilet to urinate). At 5 years earlier, the initial symptoms were mild dysphagia, mild dystonia, and sleep disturbances (shouting and sleep attacks, which disappeared when waking up). Although the patient had seen the doctor several times, patient's disease remained undiagnosed. Ten months ago, restriction of neck rotation appeared. Moreover, the bulbar dysarthria, oculomotor dysfunction (restriction of vertical and horizontal gaze), and mild cognitive impairment (Mini Mental State Examination was 21) appeared 4 months ago (Figure 1A).\nNeurological examination revealed horizontal and vertical gaze palsy, restricted mouth opening, reduced gag reflex, dysarthria, restriction of neck rotation, mild dystonia of both lower extremities, active tendon reflexes in the extremities, and Babinski's sign in his lower-right extremity. Blood test results showed that immunity, comprehensive metabolism, endocrine, and infection were normal. Blood gas analysis was normal. Brain and brainstem magnetic resonance imaging (MRI) were normal. Tumors were ruled out using chest and abdomen computed tomography and nasopharyngeal-region MRI. His electroencephalogram study was normal but electromyography revealed extensive neurogenic damage. Cerebrospinal fluid (CSf)examination was performed because of the psychiatric symptoms. CSF tests revealed normal nucleated cells and protein. Infectious-disease studies showed negative results for virus, cryptococcus, tuberculosis, bacteria, and fungi. Investigations of paraneoplastic and autoimmune antibodies were performed by collecting antibodies from the patient's serum and CSF, included antibodies to LGI, GABAB receptor, NMDA receptor, Caspr2, AMPA1 receptor, AMPA2 receptor, DPPX, IgLON5, GAD65, GlyR1, DRD2, mGluR5, Hu, Yo, Ri, CV2, Ma2, amphiphysin, Ma1, SOX1, Tr (DNER), Zic4, GAD65, PKCgamma, recoverin, and titin. Only the anti-IgLON5 antibody test was positive in both CSF and serum (1:320 and 1:100, respectively; Figure 1B).\nThe patient was started on treatment with intravenous immunoglobulin (IVIg) (2 g/kg for 5 days) followed by high-dose steroid therapy (1 g/day for 5 days and gradually reduced). Olanzapine was used temporarily when psychiatric symptoms were severe in the initial stages. One month later, only the abnormal psychiatric behaviors showed any improvement. The patient's other symptoms became worse during the 34 weeks of follow-up.\nIncluding our patient, 19 cases were eligible for our review (Table 1; Data S1, Figure S1). Of those, nine patients were male and 10 were female, and the age at diagnosis ranged from 45 to 84 years (average 65 years). The average time from symptom onset to diagnosis was 27 months. For CSF testing, 18 patients had anti-IgLON5 antibody in CSF, and 14 patients had anti-IgLON5 antibody with their serum tested. Of the 16 patients, six had abnormal nucleated cells and/or protein in CSF. Moreover, of 11 patients, three displayed abnormal brain MRI. In terms of psychiatric symptoms, nine patients displayed confusion, seven patients displayed depression, six patients had hallucinations, two patients had delirium, three patients displayed abnormal behaviors, and one patient displayed anxiety. The average time of psychiatric symptoms present was 13 months (range 0-60 months). Among the 14 patients who had received immunotherapy (including steroids, IVIg, plasma exchange, or immunity inhibitors), six partially improved, one fully improved, and seven had no improvement.",
"gender": "Male"
}
] |
PMC10784753
|
[
{
"age": 0,
"case_id": "PMC10581014_01",
"case_text": "A previously healthy three-month-old female infant presented with a one-week history of fever. She was initially diagnosed and treated for malaria with oral quinine syrup and paracetamol at a peripheral clinic for four days. Despite this treatment, the baby continued to have persistent fever. Three days later, she developed an acute-onset seizures characterized by jerky movements of the right hand and leg, eye blinking, altered consciousness, and difficulty in breathing. The patient was promptly transferred to a tertiary hospital for further management. This marked the infant's first admission, and she had no history of head trauma since birth. Her medical records revealed a normal and uneventful pregnancy, with delivery occurring at 38 weeks and 5 days of gestation, as confirmed by antenatal obstetric ultrasound. Since birth, she has been exclusively breastfed, exhibiting normal age-appropriate growth and achieving developmental milestones within expected ranges. Moreover, her parents diligently adhered to the recommended vaccination schedule, ensuring she received all essential immunizations appropriate for her age.\nUpon admission, the infant was comatose. She responded to pain stimulation by opening her eyes and moaning and exhibited withdrawal from nailbed pain. According to the Pediatric Glasgow Coma Scale (pGCS), she scored 9 of 15. The patient also presented with high-grade fever (38.8 C) and exhibited jerky movements of the right hand and leg, as well as blinking of the eyes, lasting more than five minutes. Notable findings included marked pallor and moderate-to-severe respiratory distress (Silverman score of 4), including nasal flaring, intercostal and subcostal retraction, and chest indrawing. Oxygen saturation levels were measured at 87-89% in room air. Physical examination revealed neck stiffness and positive Kernig's and Brudzinski's signs. The infant had a weight of 5.6 kg and a length of 53 cm, which suggests normal growth and nutritional status. The infant was admitted to the Pediatric Acute Critically Ill Patients Special Care Unit where emergency treatment and life support were initiated. Oxygen therapy was administered at a rate of 2 L/min via nasal prongs, and sequential doses of anticonvulsant agents were administered to manage the status epilepticus.\nThe baseline complete blood count revealed a leukocyte count of 14,300/microL, with granulocytes accounting for 53.6% (7.7109/L). Anemia was also evident, with a hemoglobin level of 6.9 g/dL and a hematocrit of 23%. The random blood sugar level was measured at 4.2 mmol/dL, and the peripheral blood smear for malarial parasites was negative. Cerebrospinal fluid (CSF) analysis revealed turbidity and purulence, elevated protein levels (11.1 g/L), and low glucose levels (0.02 mmol/liter). CSF samples were collected for culturing.\nA brain Computed tomography scan (CT scan) of the patient revealed a \"white cerebellum sign\" in relation to diffuse hypodensity in both cerebral hemispheres with loss of white-grey matter differentiation, indicative of widespread hypoxic-ischemic lesions (Figures 1 and 2).\nThe patient received a loading dose of phenobarbital (20 mg/kg), followed by two doses of phenobarbital (10 mg/kg) after 30 min. Subsequently, the patient was switched to intravenous phenytoin, starting with a dose of 15 mg/kg, administered slowly over 60 min. Maintenance therapy with phenobarbital was continued at a dose of 5 mg/kg every 12 hours for four days. Additional supportive care included the intravenous maintenance of fluids, antipyretics, and maternal breastfeeding via a nasogastric tube. Vital signs and urine output were closely monitored, and intravenous ceftriaxone at a dosage of 100 mg/kg per day was initiated as empirical antimicrobial therapy.\nOn the fourth day of admission, CSF culture results showed the isolation of oxacillin-sensitive Staphylococcus aureus, which was also susceptible to trimethoprim-sulfamethoxazole and chloramphenicol, but resistant to azithromycin, ampicillin, and erythromycin. The diagnosis of Methicillin-Sensitive Staphylococcus aureus (MSSA) Meningitis was made, and intravenous Oxacillin was initiated at a dose of 150 mg per kg per day.\nWithin two weeks, the infant exhibited remarkable clinical improvement. She fully recovered consciousness and progressively regained the ability to breastfeed. The fever and other symptoms resolved completely. The baby was discharged, and parents were provided with detailed instructions regarding further follow-up. During the follow-up visits, she was reviewed two months later, revealing normal, age-appropriate developmental progress, with no further episodes of convulsions reported.",
"gender": "Female"
}
] |
PMC10581014
|
[
{
"age": 55,
"case_id": "PMC10516690_01",
"case_text": "A 55-year-old North-African male with no comorbidities presented in February 2021 with a six-month history of pain on the upper left side of the abdomen and weight loss estimated at 14 kg.\nOn physical examination, the patient was stable with normal vital signs. There was marked splenomegaly, 8 cm below the costal margin, but no palpable lymphadenopathy, neither hepatomegaly nor skin lesions. Neurological examination did not reveal neurological deficit.\nLaboratory investigations showed hemoglobin at 14.6 (11.5-15.5) g/dL, mean corpuscular volume (MCV) at 92 (82-15.5) fL, and platelets at 153 (150-450) G/L. His white cell count (WCC) was normal with lymphocyte count at 1062/mm3. Liver enzymes, such as aspartate transaminase (ASAT), alanine transaminase (ALAT), and alkaline phosphatase, were within normal range. The serum lactate dehydrogenase (LDH) was elevated, at 640 (135-225) U/L. The serum creatinine was normal at 0.8 (0.67-1.17) mg/dl. B2 microglobuline was of 3.63 mg/L, and serum protein electrophoresis was negative for any monoclonal gammopathy.\nPeripheral blood smear revealed approximately 9% of blasts with increased nucleo-cytoplasmic (N/C) ratio and slightly basophilic cytoplasm without granulations. Nuclear contours were irregular, and chromatin was fine with one or two well-defined nuclei. Two separate lymphocyte populations were observed. The first ones (12%) were small with condensed chromatin and reduced cytoplasm. The second ones (8%) were atypic cells with irregular contoured and notched nucleoli.\nBone marrow aspirate smear showed many medium to large cells with round or irregular contoured nucleus. Chromatin was young with increased N/C. No hemophagocytosis was found (Figure 1).\nFlow cytometry on medullary aspirate did not find any blastic infiltration and lymphocytic immunophenotyping showed positive expression of CD20, CD19, CD79b, FMC7, CD22, CD25, CD103, CD11c, and CD5 (weak) with intense expression of kappa light chain and negative expression of CD23 and CD43.\nKaryotype was normal in 13 mitoses, with addition of mitogene B karyotype found 78-82, X, -Y, +X, +4, +5, +5, del(6) (q22)x2, +6, +7, +11, +14, +15 der(17) t(17; ?) (p11; ?) x2, +17, -19, +20, +21, +3, -6mar.\nBone marrow biopsy showed intrasinusoidal pattern with interstitial infiltrate that included large-sized cells with round and irregular nuclei, prominent nucleoli, and reduced cytoplasm. Immunohistochemistry analysis showed positive expression for CD20 and negative expression for CD30 and CD3. The morphology and immunohistochemical profile indicated a diagnosis of intravascular B-cell lymphoma.\nA CT scan of the chest, abdomen, and pelvis was performed. It revealed massive and isolated splenomegaly (23.5 cm diameter). The patient displayed high diffuse uptake of 18F-fluorodeoxyglucose (FDG) in the enlarged spleen and bone marrow (SUV max 3.38) (Figure 2). Cerebral MRI was not performed initially.\nOur patient received 6 cycles of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) and achieved complete metabolic response (DEAUVILLE 1) after four cycles with complete regression of splenomegaly. During the last twelve months of follow-up, no recurrence was noted.",
"gender": "Male"
}
] |
PMC10516690
|
[
{
"age": 49,
"case_id": "PMC11140016_01",
"case_text": "A 49-year-old woman, gravida 1 para 1, accidentally presented with an egg-sized abdominal mass. Symptoms of fever, abdominal pain, and weight loss were not present, and she had previously undergone myomectomy. Physical examination revealed a rigid mass, with moderate motion and no tenderness.\nUltrasound examination showed multiple hypoechoic masses in the subcutaneous fascia layer. The two larger ones are approximately 41 x 25mm and 20 x 16mm with clear boundaries that were connected ( Figure 1A ). Color Doppler flow imaging (CDFI) showed a punctate blood flow signal within the mass ( Figure 1B ), and resistance index of 0.74. Contrast-enhanced ultrasound (CEUS) was performed using the contrast agent SonoVue. Simultaneously, an ultrasound-guided abdominal wall mass core needle biopsy was performed on the two masses. The larger mass showed relatively high enhancement in both arterial and venous phases. The smaller mass showed relatively no enhancement in the arterial phase and low enhancement around in venous phase ( Figure 1C ). An MRI was performed, which showed similar circular abnormal signal shadows on the anterior abdominal wall and abdominal cavity, with sizes of 29 x 16mm and 31 x 21mm, a slightly longer T1 and slightly longer T2, limited diffusion, and progressive enhancement after enhancement ( Figures 2A-F ). Chest Computed Tomography (CT) examination showed no abnormality. CEA, AFP, CA724, CA199 and CA125 markers were all normal.\nPathology of the biopsy suggested a spindle cell tumor, and combined with the patient's surgical history, a fibromatosis in the abdominal wall was considered. The patient underwent the elective resection of the abdominal wall and abdominal cavity tumors. Two masses of 4 x 3cm and 2 x 2cm were observed during the operation, the larger one protruding into the abdominal cavity and the smaller one located in the anterior sheath of the rectus muscle. Two masses, about 2/3 of the rectus abdominis muscle and part of the posterior sheath, were removed completely. The surgeon performed tension-free repair of an abdominal wall hernia, inserting the patch into the abdominal cavity under the incision, fixing it on the abdominal wall, and suturing the rectus abdominis muscle and anterior sheath of the rectus abdominis muscle.\nThe histopathological examination showed spindle cells. Immunohistochemical staining showed that smooth muscle actin (SMA), desmin, estrogen receptor (ER) and progesterone receptor (PR) were positive, and cell proliferation antigen Ki-67 was less than 1% ( Figures 3A-F ). Based on these findings, the tumor was diagnosed as BML.",
"gender": "Female"
}
] |
PMC11140016
|
[
{
"age": 31,
"case_id": "PMC10826391_01",
"case_text": "Our case is a 31-year-old primigravida, at 26-weeks' gestation presenting to the emergency room of Al-Shifa Medical Complex. She underwent in vitro fertilization (IVF) with a frozen embryo because of male factor infertility. She is known to have a congenital Horseshoe kidney. Her past surgical and family history are unremarkable. In the first trimester (8 weeks' gestation), she had complained of recurrent vaginal spotting and abdominal pain with absence of intrauterine pregnancy on transvaginal ultrasound along with elevated human chorionic gonadotropin hormone (beta-hCG); therefore, a diagnosis of abdominal ectopic pregnancy was presumed. However, the patient refused to be admitted to the obstetrics and gynecology department for further evaluation and management despite medical advice. Although she had further recurrent abdominal pain and vaginal spotting, she did not attend any outpatient follow-up appointments. At 26 weeks gestation, she presented to the emergency department complaining of lower abdominal pain and vaginal spotting with urinary retention, which she attempted to relieve by warm water baths.\nOn examination, the patient was vitally stable, and her abdomen was distended with moderate tenderness. Laboratory blood tests showed normal hemoglobin (Hgb) (10.8 g/dl) and a normal white blood cell count (WBC) (8.4*109/L). Abdominal ultrasound (US) revealed an empty uterus ,an intact abdominal gestational sac containing a deformed viable fetus, and a placenta that is adjacent to the bladder (See Figure 1). On the same day, the patient underwent an abdominal laparotomy to deliver a 15 cm x 10 cm size gestational sac. Large bowels were adherent to the gestational sac, for which adhesiolysis was done with complete excision of the attached mesentery. As the placenta was rendered free from surrounding bowel, the surgeon decided to remove the placenta completely. The baby was delivered with the placenta without significant bleeding. The baby had deformed lower limbs and skull bones (Figure 2). As the patient had a horseshoe kidney, double J-stents were inserted bilaterally by cystoscopy in order to avoid any injury to the ureters. There was evidence of left ovarian tube rupture due to adherence to the sac; as a result, left salpingo-oophorectomy was performed. She received one packed red blood cell unit during the operation.\nThe postoperative period was unremarkable, and she was discharged after 7 days. Two weeks after the operation, her condition was good with no complaints or complications. One week later, the double J-stents were removed.",
"gender": "Male"
}
] |
PMC10826391
|
[
{
"age": 30,
"case_id": "PMC11282552_01",
"case_text": "A 30-year-old South-Asian woman, multiparous and resident of India, presented to the surgical outpatient department with a complaint of pain in her left and right breast for the past 5 months, with redness and hardness on both breasts for the past 2 months. The patient reported the spread of these symptoms to the cervical, axillary, and left forearm regions. The patient had a history of using over-the-counter skin preparations, including steroids, ayurvedic creams, topical herbal medication use, and antihistamines, for early dermatological presentation, until the disease reached the presenting proportions. On local examination, the bilateral breast showed diffuse enlargement with erythema and pigmentary changes resembling a spoke-wheel pattern (Figure 1). The patient reported using herbal topical treatments for approximately 2 weeks to alleviate inflammation and erythema. However, instead of subsiding, the inflammation persisted and the skin lesions developed into a prominent hyperpigmented spoke-wheel pattern. The examination revealed tender, firm hard nodularity over both breasts and lymphedema of the left arm. Bilateral palpable axillary lymph nodes were also present. Ultrasound revealed inflammatory breast carcinoma of the bilateral breasts. A fine needle aspiration cytology was performed on the axillary lymph nodes, and a Trucut biopsy was utilized to obtain specimens from the elevated \"spoke-wheel\" area of the breast tissue. Morphological findings included the raised hyperpigmented \"spoke-wheel\" and erythema present in areas of the upper trunk including the bilateral upper arms, and cervical, and axillary regions. Histopathology examination revealed dense pleomorphism and anisonucleosis. The cells had scanty cytoplasm and large hyperchromatic nuclei with prominent nucleoli (Figure 2), and dense fibrous-collagenous bundles showing round to polygonal cells with no significant tubule formation (Figure 3), signifying malignant cells with few clear cytoplasm from aspirate sites. Based on the cytological findings, with cutaneous metastasis, a cytodiagnosis of stage 4 invasive ductal carcinoma of the breast with CeC was made. The patient was referred to an oncology center and was receiving palliative treatment with doxorubicin and paclitaxel, with three cycles completed at the last follow-up.",
"gender": "Female"
}
] |
PMC11282552
|
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