OpenMed/multicare-articles huggingface dataset:
An Elderly Case of Minimal Change Nephrotic Syndrome: Correlation between Renal Tubular Dysfunction and the Onset of Oliguric Acute Kidney Injury Requiring Hemodialysis
Authors: Maika Gojo, Chikayuki Morimoto, Syuntaro Taira, Minoru Yasukawa, Shinichiro Asakawa, Michito Nagura, Shigeyuki Arai, Osamu Yamazaki, Yoshifuru Tamura, Shigeru Shibata, Yoshihide Fujigaki
Journal: Case Rep Nephrol (2024)
MeSH terms: Case Reports

Several theories have been proposed to explain the development of severe acute kidney injury (AKI) in patients with minimal change nephrotic syndrome (MCNS), but the exact mechanism remains unclear. We encountered an elderly patient with biopsy-proven MCNS who suffered from oliguric AKI, which required hemodialysis at the onset and during the first relapse of nephrotic syndrome. Throughout her relapse, we were able to monitor tubular injury markers, namely, urinary N-acetyl-β-D-glucosaminidase and urinary alpha-1-microglobulin levels. This patient had hypertension. 8.5 years after achieving complete remission, she experienced a relapse of nephrotic syndrome accompanied by AKI, necessitating hemodialysis. The hemodialysis was discontinued after 7 weeks of corticosteroid therapy and cyclosporin A treatment. During this relapse, we observed a correlation between the sudden increase in renal tubular injury markers and proteinuria levels and the progression of severe AKI. Conversely, a reduction in renal tubular injury markers and proteinuria was associated with the resolution of AKI. The abrupt elevation of both tubular injury markers and proteinuria levels suggests a possible breakdown in protein endocytosis in proximal tubular cells. Moreover, it is less likely that the acute reduction in intra-glomerular pressure is the primary cause of tubular injury, as it might result in a decrease in both glomerular filtration rate and proteinuria levels. It is conceivable that massive proteinuria, in conjunction with the patient's clinical characteristics, may contribute to tubular injury, ultimately leading to severe AKI in this patient.
Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review
Authors: Bosen Zhu, Ming Liu, Tianhao Mu, Wentao Li, Junqi Ren, Xiangtao Li, Yi Liang, Ziyi Yang, Yulin Niu, Shifu Chen, Junqiong Lin
Journal: Front Oncol (2024)
Keywords: ngs sequencing, acute non-lymphocytic leukemia, colon cancer, lynch syndrome, multiple primary tumors
MeSH terms: Case Reports

The incidence of multiple primary tumors(MPTs) is on the rise in recent years, but patients having four or more primary tumors is still rare. Lynch syndrome (LS) patients have a high risk of developing MPTs. NGS sequencing could identify the genetic alterations in different tumors to make a definite diagnosis of uncommon cases in clinical practice. Here, we report the case of a 66-year-old female patient who develops four MPTS between the ages of 41 and 66, that is sigmoid colon cancer, acute non-lymphocytic leukemia, urothelial carcinoma and ascending colon cancer. She has survived for more than 26 years since the first discovery of tumor. Targeted sequencing indicates that she has a pathogenic germline mutation in the exon 13 of MSH2, and her 2020 ureteral cancer sample and 2023 colon cancer sample have completely different mutation profiles. To the best of our knowledge, this is the first case of multiple primary tumors with an acute non-lymphocytic leukemia in LS patients.
Case Report: SCN5A mutations in three young patients with sick sinus syndrome
Authors: Jiayu Liang, Suxin Luo, Bi Huang
Journal: Front Cardiovasc Med (2023)
Keywords: scn5a gene, gene mutation, gene testing, pacemaker implantation, sick sinus syndrome
MeSH terms: Case Reports

Background:
Sick Sinus Syndrome (SSS) is generally regarded as a degenerative disease with aging; however, genetic mutations have been confirmed to be associated with SSS. Among them, mutations in SCN5A are common in patients with SSS. We report three young SSS patients with SCN5A mutations at different sites that have not been previously reported in Asian patients.
Case presentation:
The three patients were all young females who presented with symptoms of severe bradycardia and paroxysmal atrial flutter, for which two patients received ablation therapy. However, after ablation, Holter monitoring indicated a significant long cardiac arrest; therefore, the patients received pacemaker implantation. The three patients had familial SSS, and genetic testing was performed. Mutations were found in SCN5A at different sites in the three families. All three patients received pacemaker implantation, resulting in the symptoms of severe bradycardia disappearing.
Conclusion:

SCN5A heterozygous mutations are common among patients clinically affected by SSS. Their causative role is confirmed by our data and by the co-occurrence of genetic arrhythmias among our patients. Genetic testing for SSS cannot be performed as a single gene panel because of feasible literature results, but in presence of familial and personal history of SSS in association with arrhythmias can provide clinically useful information.
A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report
Authors: Bandar Al-Saud, Huda Alajlan, Hibah Alruwaili, Latifa Almoaibed, Amer Al-Mazrou, Hazem Ghebeh, Monther Al-Alwan, Anas M Alazami
Journal: Front Immunol (2024)
Keywords: ngs, sarah domain, case report, lymphopenia, primary immunodeficiency
MeSH terms: Epstein-Barr Virus Infections / genetics, Lymphopenia / genetics, Case Reports, Female, Herpesvirus 4, Human, Humans, Intracellular Signaling Peptides and Proteins / genetics, Mutation, Phenotype, Protein Serine-Threonine Kinases / genetics, T-Lymphocytes, STK4 protein, human, Protein Serine-Threonine Kinases, Intracellular Signaling Peptides and Proteins

Mutations in STK4 (MST1) are implicated in a form of autosomal recessive combined immunodeficiency, resulting in recurrent infections (especially Epstein-Barr virus viremia), autoimmunity, and cardiac malformations. Here we report a patient with an atypically mild presentation of this disease, initially presenting with severe T cell lymphopenia (< 500 per mm3) and intermittent neutropenia, but now surviving well on immunoglobulins and prophylactic antibacterial treatment. She harbors a unique STK4 mutation that lies further downstream than all others reported to date. Unlike other published cases, her mRNA transcript is not vulnerable to nonsense mediated decay (NMD) and yields a truncated protein that is expected to lose only the C-terminal SARAH domain. This domain is critical for autodimerization and autophosphorylation. While exhibiting significant differences from controls, this patient's T cell proliferation defects and susceptibility to apoptosis are not as severe as reported elsewhere. Expression of PD-1 is in line with healthy controls. Similarly, the dysregulation seen in immunophenotyping is not as pronounced as in other published cases. The nature of this mutation, enabling its evasion from NMD, provides a rare glimpse into the clinical and cellular features associated with the absence of a "null" phenotype of this protein.
Renal Extramedullary Hematopoiesis in Mast Cell Leukemia with Bone Marrow Fibrosis
Authors: Damian T Rieke, Laura K Schmalbrock, Jana Ihlow, Karsten Kleo, Ann-Christin von Brünneck, Florian Nolte, Ulrich Keller, Sebastian Ochsenreither
Journal: Case Rep Hematol (2024)
MeSH terms: Case Reports

Systemic mastocytosis is defined by the clonal proliferation of abnormal mast cells. The clinical course can range from indolent forms with normal life expectancy to advanced mast cell leukemia with dismal prognosis. An association with other diseases, including myeloproliferative neoplasia, has been described. We present a case of a 75-year patient with a history of cutaneous mastocytosis who was diagnosed with mast cell leukemia more than 9 years ago and did not receive treatment. The patient presented to our clinic with acute kidney failure because of renal extramedullary hematopoiesis. Bone marrow histopathology revealed extensive fibrosis and 50% infiltration by mast cells with a c-KIT D816V mutation. No mutations supporting primary myelofibrosis were identified. Treatment with midostaurin was started, and the patient was discharged after improvement of renal function. Here, we discuss diagnostic challenges between different forms of mast cell leukemia and overlaps with other hematological malignancies.
Case report: Sequential therapy with dupilumab and baricitinib for severe alopecia areata with atopic dermatitis in children
Authors: Huijuan Fang, Fengchuan Zhang, Wenjun Lin, Yuqi Jiang, Qingwu Liu, Dingquan Yang
Journal: Front Immunol (2024)
Keywords: alopecia areata, atopic dermatitis, autoimmunity, baricitinib, dupilumab
MeSH terms: Alopecia Areata / diagnosis, Alopecia Areata / drug therapy, Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / adverse effects, Antibodies, Monoclonal, Humanized / therapeutic use, Azetidines / administration & dosage, Azetidines / adverse effects, Azetidines / therapeutic use, Dermatitis, Atopic / drug therapy, Purines / administration & dosage, Purines / adverse effects, Pyrazoles / administration & dosage, Pyrazoles / adverse effects, Pyrazoles / therapeutic use, Sulfonamides / administration & dosage, Sulfonamides / adverse effects, Sulfonamides / therapeutic use, Case Reports, Child, Drug Therapy, Combination, Female, Humans, Severity of Illness Index, Treatment Outcome, baricitinib, Purines, Azetidines, Pyrazoles, Sulfonamides, dupilumab, Antibodies, Monoclonal, Humanized

An 8-year-old female child presented with patchy hair loss for 1 year, accompanied by eyebrow loss for 6 months. Microscopic examination of the hair confirmed the features of active stage alopecia areata, with a Severity of Alopecia Tool (SALT) score of 70%. The diagnosis was severe alopecia areata. The patient had a history of atopic dermatitis since infancy, with recurrent episodes of scattered papules and pruritus for 8 years. Initial treatment involved subcutaneous injections of dupilumab 300mg every 2 weeks for 6 months, resulting in a reduction of SALT score to 20% and improvement of atopic dermatitis symptoms. Discontinuation of Dupilumab and initiation of daily oral Baricitinib at a dose of 2mg for a duration of 5 months. According to the SALT score evaluation, the severity of hair loss was less than 10% and there was significant regrowth of hair. No significant adverse reactions were observed during the treatment period.
Case Report: a rare primary gastric choriocarcinoma revealed on 18F-FDG PET/CT
Authors: Yi Zhao, Wei Diao, Suping Li, Mengxi Yang, Zhuzhong Cheng
Journal: Front Oncol (2023)
Keywords: 18 f-fdg pet/ct, case report, gastric cancer, hepatic metastases, primary gastric choriocarcinoma
MeSH terms: Case Reports

Choriocarcinoma is an exceptionally aggressive trophoblastic cell tumor that that typically originates in gonadal tissues, with rare occurrences outside the gonads, including the mediastinum, retroperitoneum, and intracranial sites. However, it rarely occurs in the stomach. Herein, we presented a case of primary gastric choriocarcinoma in a 27-year-old female patient who found multiple liver masses detected during physical examination, accompanied by remarkably elevated human chorionic gonadotropin levels. The 18F-FDG PET/CT scan suggested ring-shaped intense uptake masses located in the gastric sinus and liver, and no significance in the pelvic region. Final histopathology indicated primary choriocarcinoma of the stomach. This case illustrates that 18F-FDG PET/CT is an essential imaging technique for the clinical diagnosis and stage of primary choriocarcinoma.
Case Report: Extended cardiopulmonary resuscitation in sudden cardiac arrest after acute myocardial infarction
Authors: Zhongkai Yu, Yubin Hu, Xiuli Chen
Journal: Front Cardiovasc Med (2024)
Keywords: ecmo, acute myocardial infarction, cardiac arrest, causes of disease, closed chest cardiac massage
MeSH terms: Case Reports

Out-of-hospital cardiac arrest (OHCA) mostly occurs in crowded public places outside hospitals, such as public sports facilities, airports, railway stations, subway stations, and shopping malls. The emergency department of Liaocheng People's Hospital in Shandong Province admitted one patient with OHCA in August 2021, who suddenly suffered a loss of consciousness and cardiac arrest during exercise after dinner. Witnesses immediately gave continuous chest compressions and artificial respiration and called our hospital's emergency department (at 120). Arriving at the emergency department, we continued to provide chest compressions and ventilator-assisted ventilation after performing endotracheal intubation. We administered adrenaline for cardiac excitation, dopamine for maintained blood pressure, sodium bicarbonate to correct the acidosis, and multiple electric defibrillations. However, the patient's cardiac Doppler ultrasound indicated poor cardiac contractions, and extracorporeal membrane oxygenation (ECMO) was started immediately. We performed coronary angiography for the patient with ECMO support, indicating that the patient had an 80% critical stenosis of the left main coronary artery and an 80%-90% stenosis in the middle section of the left anterior descending artery with an aneurysm. Fortunately, there was no obvious stenosis in the right coronary artery. The patient was transferred to the intensive care unit and received comprehensive treatment, including anticoagulation, myocardial nutritional support, improvement of cardiac function, continuous renal replacement therapy, organ function protection, anti-inflammatory treatment, and rehabilitation. Coronary artery bypass grafting was performed after the patient's condition stabilized, and he was finally discharged. ECMO support therapy for patients with cardiac arrest can be considered when economic conditions permit. It is very important to conduct the necessary examinations in the early stage of resuscitation with ECMO support to clarify the cause of the cardiac arrest and to treat it accordingly.
Pulmonary Embolism Triage: When to Do What
Authors: Kathryn M Donovan
Journal: Methodist Debakey Cardiovasc J (2024)
Keywords: cor pulmonale, pulmonary embolism, right heart strain
MeSH terms: Anticoagulants / therapeutic use, Clinical Decision-Making, Pulmonary Embolism / diagnosis, Pulmonary Embolism / diagnostic imaging, Pulmonary Embolism / physiopathology, Pulmonary Embolism / therapy, Triage, Case Reports, Aged, Decision Support Techniques, Humans, Male, Patient Selection, Predictive Value of Tests, Risk Assessment, Risk Factors, Thrombolytic Therapy, Treatment Outcome

Anticoagulation has been the standard therapy for treating pulmonary embolism. However, newly developed pharmacological and interventional treatment options have been shown to provide benefit for certain patient populations, depending on how they present. This column highlights the use of massive pulmonary embolism risk stratification in determining the presence of cor pulmonale and offers several key points to remember when caring for patients with a pulmonary embolism.
A Case Report of Uterine Müllerian Adenosarcoma With Sarcomatous Overgrowth
Authors: Mohammed Bendimya, Ouissam Al Jarroudi, Sami Aziz Brahmi, Said Afqir
Journal: Cureus (2024)
Keywords: adjuvant chemotheapy, adjuvant radiation therapy, bilateral salpingo-oophorectomy, mullerian adenosarcoma, sarcomatous overgrowth, total abdominal hysterectomy, uterine cancer
MeSH terms: Case Reports

Uterine adenosarcoma remains a highly aggressive tumor and is less described in the literature, with an unfavorable prognosis and an increased risk of local and distant recurrence. However, surgery, chemotherapy, and radiotherapy offer local control of the disease, and overall survival remains reduced. We report the case of a 79-year-old patient with stage IIIB uterine adenosarcoma, confirmed by immunohistochemistry and initially diagnosed with postmenopausal metrorrhagia. The patient was managed through a multimodal treatment by conducting a multidisciplinary consultation.
Bartonella henselae infection-mediated shunt nephritis
Authors: Jennifer Nhan, Shriprasad Deshpande, Craig Futterman, Dong Hyang Kwon, Aadil Kakajiwala
Journal: Clin Nephrol Case Stud (2024)
Keywords: anca vasculitis, endocarditis, full-house immunofluorescence, membranoproliferative glomerulonephritis, shunt nephritis
MeSH terms: Case Reports

Serum anti-neutrophil cytoplasmic antibody (ANCA) positivity with membranoproliferative pattern on renal biopsy can be due to ANCA-associated vasculitis as well as chronic indolent infections. We present the case of an adolescent boy with congenital heart disease and history of cardiac surgery who presented with severe acute kidney injury requiring hemodialysis. Renal biopsy showed membranoproliferative glomerulonephritis with full-house immunofluorescence pattern. Low serum complements, PR3 ANCA positivity and elevated Bartonella immunoglobulin titers suggested a diagnosis of infective endocarditis-associated glomerulonephritis. Cardiac shunt revision and antibiotic therapy lead to improvement in kidney function. Chronic infections lead to formation of immune complexes that may cause deposit within the renal parenchyma and induce production of ANCA. The distinction of ANCA-associated vasculitis and chronic infections causing acute kidney injury is important in determining therapeutic management. While rare in the pediatric population, we highlight the importance in considering indolent infections in patients with acute glomerulonephritis and ANCA positivity, especially with risk factors.
Case report: Retrograde endovascular recanalization of vertebral artery occlusion with non-tapered stump via the deep cervical collateral
Authors: Han Qiu, Zhiming Kang, Dong Sun, Bin Mei, Junjian Zhang
Journal: Front Neurol (2023)
Keywords: deep cervical collateral, endovascular recanalization, ischemic stroke, non-tapered stump, retrograde, vertebral artery occlusion
MeSH terms: Case Reports

Introduction:
Vertebral artery (VA) occlusive disease is the major cause of posterior circulation ischemic stroke. Endovascular recanalization has been reported as a feasible treatment for patients with symptomatic VA occlusion refractory to optimal medical therapy. However, VA occlusion with non-tapered stump exhibits a low technique success rate when treated by antegrade endovascular therapy because of increased difficulty in passing the guidewire into the occluded segment. Herein, we presented a novel endovascular approach to recanalize chronically occluded VA with a non-tapered stump using a retrograde method via the deep cervical collateral, which has not been reported before.
Case presentation:
The present case was a patient with VA ostial occlusion with non-tapered stump and distal severe stenosis of the left VA who had recurrent posterior circulation transit ischemic attacks under optimal medical therapy. CT angiography demonstrated proximal non-tapered occlusion and distal severe stenosis of the left VA, and that the right VA did not converge with the left VA into basilar artery. Endovascular treatment was recommended and performed on this patient. However, antegrade endovascular recanalization of the left VA origin occlusion failed because the micro guidewire was unable to traverse the occluded segment. Fortunately, robust collateral from the deep cervical artery to the V3 segment of the left VA developed, in which we advanced the micro guidewire to the V3 segment of the left VA and reversely passed the micro guidewire through the occluded segment. Then, the occlusion and stenosis of the left VA were successfully resolved with angioplasty and stenting. After the procedure, the patient reported no neurological symptoms under medical therapy during 3-month follow-up.
Conclusion:
Antegrade endovascular recanalization of VA occlusion with a non-tapered stump is a challenge. The retrograde endovascular method via the cervical collateral may be an alternative for this type of VA occlusion, which requires further exploration.
Small cell neuroendocrine carcinoma with adenocarcinoma and high grade squamous intraepithelial neoplasia of the cervix
Authors: Guralarasan Gurubalan, Amber Parwaiz, Surabhi Ajit, Tarun Kumar, Madhu Kumari, Punam Bhadani
Journal: Autops Case Rep (2023)
Keywords: adenocarcinoma, human papillomavirus viruses, neuroendocrine tumors, squamous intraepithelial lesions
MeSH terms: Case Reports

Neuroendocrine neoplasm (NEN) of the cervix is a malignant tumor and is classified into low and intermediate-grade neuroendocrine tumor (NET), and high-grade small cell neuroendocrine carcinoma (SCNEC), and large cells neuroendocrine carcinoma (LCNEC). SCNEC of the cervix is an Infrequent tumor with an incidence of less than 1% of all gynecological malignancies. It is characterized by small to medium-sized tumor cells with scant cytoplasm and neuroendocrine differentiation. Most cases of SCNEC of the cervix manifest in pure forms, and only cases show coexisting, non-neuroendocrine component of HPV-associated adenocarcinoma or squamous cell carcinoma. In this report, reviewing the literature, we present one such unique case of SCNEC of the cervix with adenocarcinoma and high-grade squamous intraepithelial neoplasia.
Nonfebrile Seizures in Pediatrics: Key Points to Remember
Authors: Mariana M Anjos, Ana M Figueireido, Patricia Cardoso, Filipa Costa, Julieta Morais
Journal: Cureus (2024)
Keywords: alopecia, hypocalcemia, pediatric rare diseases, rickets, seizures
MeSH terms: Case Reports

Seizures are the most common neurological disorder in pediatrics, and their initial approach aims at clinical stabilization. A thorough patient evaluation may provide important clues for the etiological diagnosis. A 12-month-old female child was observed in the emergency department after experiencing her first apyretic seizure. She had a history of congenital alopecia and, on physical examination, presented subtotal alopecia and milia. Initial investigation revealed hypocalcemia; therefore, intravenous calcium correction was started with a partial response. The analytical study was extended, revealing hypophosphatemia, elevated parathormone, and 1,25(OH)2 vitamin D with normal 25(OH) vitamin D. The genetic analysis confirmed hereditary vitamin D-resistant rickets (HVDRR). The integration of the findings was crucial to diagnostic reasoning and to guide further investigation. HVDRR is a rare disorder, with more severe clinical presentations associated with alopecia. Early diagnosis and treatment are fundamental to minimize the impact on growth and the development of other comorbidities.
Infective Endocarditis as a complication of COVID-19 infection; A case report and review of literature
Authors: Khadije Mohammadi, Parya Soltani, Nazanin Davari
Journal: J Cardiovasc Thorac Res (2023)
Keywords: covid-19, case report, infective endocarditis, tricuspid valve
MeSH terms: Case Reports

COVID-19 has been known to induce systemic inflammation and hyper coagulate state leading to different complications. Cardiovascular complications are one of the most important among complications following COVID-19 infection. A 57 years old woman with past medical history of COVID-19 infection about two months ago came to our hospital with presentation of fever and dyspnea. During workup, tricuspid valve infection associated with pulmonary septic emboli was diagnosed without any obvious risk factor for infective endocarditis. It seems that COVID-19 infection may increase the rate of endocarditis in patients with or without risk factors of endocarditis.