OpenMed/multicare-articles huggingface dataset:
Metabolic and Epigenetic Reprogramming in a Case of Nuclear Protein in Testis (NUT) Carcinoma of the Retroperitoneum
Authors: Mika Serizawa, Kaho Serizawa, Kenta Masui, Makoto Toguchi, Kumiko Murakami, Tomoko Yamamoto, Yoji Nagashima, Toshio Takagi, Atsushi Kurata
Journal: Cureus (2024)
Keywords: brd4-nut, epigenetics, metabolic reprogramming, nut carcinoma, retroperitoneum
MeSH terms: Case Reports

Nuclear protein in testis (NUT) carcinoma is a rare but highly aggressive carcinoma, driven by genetic rearrangement of the NUT midline carcinoma family member 1 (NUTM1) gene on chromosome 15q14. Recently, a tight link has been suggested between genetic abnormalities and subsequent metabolic and epigenetic dysregulation to drive the progression of malignant tumors. However, it remains elusive whether such reprogramming could contribute to the pathogenesis of NUT carcinoma. We herein report an autopsy case of NUT carcinoma arising in the retroperitoneum of a 31-year-old male. Notably, reprogramming of glycolytic metabolism and epigenetic histone modifications was observed in this unusual NUT carcinoma case, and this phenomenon was further confirmed by an in vitro cell culture model with bromodomain containing 4 (BRD4)-NUT overexpression. The rationale for documenting the case is based on our findings to reveal that metabolic and epigenetic reprogramming could be one of the contributing factors to the pathogenesis of NUT carcinoma, which could be exploitable as a novel therapeutic target for this rare and aggressive cancer type.
Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study
Authors: Angham Almutair, Beshaier Almulhem
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: glp-1ra, hnf1b-mody, mody, semaglutide, successful
MeSH terms: Diabetes Mellitus, Type 2, Glucagon-Like Peptides, Hypoglycemia / drug therapy, Hypoglycemic Agents / therapeutic use, Case Reports, Adolescent, Blood Glucose, Blood Glucose Self-Monitoring, Female, Glucose, Glycated Hemoglobin, Hepatocyte Nuclear Factor 1-beta / genetics, Humans, Insulin / therapeutic use, Hypoglycemic Agents, semaglutide, Glycated Hemoglobin, Blood Glucose, Insulin, Glucose, HNF1B protein, human, Hepatocyte Nuclear Factor 1-beta, Glucagon-Like Peptides, Mason-Type Diabetes

Maturity-onset diabetes of the young (MODY) is a grouping of monogenic disorders. It is characterized by dominantly inherited, non-insulin-dependent diabetes. MODY is relatively rare, encompassing up to 3.5% in those diagnosed under 30 years of age. Specific types are most commonly treated with sulfonylurea, particularly those identified as HNF4A-MODY and HNF1A-MODY. HNF1B-MODY is another type that is most frequently managed with insulin therapy but lacks a defined precision treatment. We present an 18-year-old, non-obese female patient diagnosed with HNF1B-MODY. She displays complete gene deletion, a renal cyst, and hypomagnesemia. Her treatment plan includes both long- and short-acting insulin, though she frequently encountered hypoglycemia and hyperglycemia. Semaglutide, a GLP-1RA, was administered weekly over 4 months. The patient's glucose level was continuously tracked using Dexcom's Continuous Glucose Monitoring system. The data suggested a notable improvement in her condition: time-in-range (TIR) increased from 70% to 88%, with some days achieving 100%, and the frequency of hypoglycemic episodes, indicated by time-below-range values, fell from 5% to 1%. The time-above-range values also dropped from 25% to 10%, and her HbA1c levels declined from 7% to 5.6%. During the semaglutide therapy, we were able to discontinue her insulin treatment. Additionally, her body mass index (BMI) was reduced from 24.1 to 20.1 kg/m2. However, the semaglutide treatment was halted after 4 months due to side effects such as nausea, vomiting, and reduced appetite. Other contributing factors included exam stress and a COVID-19 infection, which forced a switch back to insulin. Her last recorded HbA1c level under exclusive insulin therapy rose to 7.1%, and her BMI increased to 24.9 kg/m2. In conclusion, semaglutide could potentially replace insulin to improve glucose variability, TIR, and HbA1c in patients with HNF1B-MODY. However, more extensive studies are required to confirm its long-term safety and efficacy.
Primary Hyperaldosteronism in a Normotensive Patient: A Case Report
Authors: Amir Hossein Ghanooni, Mitra KazemiJahromi, Farhad Hosseinpanah
Journal: Int J Endocrinol Metab (2023)
Keywords: adrenal tumor, hypokalemia, normotensive, primary aldosteronism
MeSH terms: Case Reports

Introduction:
Primary aldosteronism (PA) is a clinical syndrome characterized by hypertension, suppressed plasma renin activity (PRA), elevated plasma aldosterone concentration (PAC), and spontaneous hypokalemia.
Case presentation:
We present a 37-year-old normotensive female with hypokalemia, high plasma aldosterone level, and suppressed renin. The patient was treated with eplerenone and potassium chloride supplement. Further investigation with a computed tomography (CT) scan revealed a mass in the left adrenal. Laparoscopic adrenalectomy led to the diagnosis of adrenal adenoma.
Conclusions:
Primary aldosteronism should be among the differential diagnoses in normotensive patients presenting with severe hypokalemia.
Impacted and Angulated Right Hip Fracture in a Patient Reporting No History of Trauma Presenting to a Chiropractic Physician: A Case Report
Authors: Steven P Brown
Journal: Cureus (2024)
Keywords: chiropractic, diagnosis, fracture, history, imaging
MeSH terms: Case Reports

A case involving a patient with an impacted and angulated femoral neck fracture presenting to a chiropractic physician is rare. This unique case contributes an account of a challenging differential diagnosis to the literature. A 65-year-old female, reporting no history of trauma, presented with a two-week history of right lower back and right anterior hip pain radiating down the front of the right thigh in the L2-L4 dermatome. The differential diagnosis included lumbar spine disc herniation and nerve root compression or a right hip abnormality. An MRI of the lumbar spine revealed L3-L4 and L4-L5 posterior disc bulges and right foraminal narrowing. She was subsequently referred to pain management and diagnosed with lumbar radiculopathy and neural foraminal stenosis. After three lumbar spine epidural injections and a period of conservative care, the patient's symptoms were 90% improved but not fully resolved. Subsequently, right hip X-rays were ordered. The x-rays revealed an impacted and angulated right femoral neck base fracture. At this time, the patient recalled a possible traumatic incident. The patient was immediately referred to an orthopedic surgeon. After a month's delay waiting for further advanced imaging, a total right hip replacement was performed. This case underscores the importance for physicians to recognize that patients may not be aware of their own history of trauma. It also highlights the need for physicians to consider the possibility of multiple concurrent pathologies and to order imaging for all areas of pain.
Case Report: Combined transcatheter arterial embolization and aortic stent-graft have better efficacy for bronchial artery aneurysms
Authors: Xiangui Li, Haoran Zhang, Wenqi Ma, Fanzhen Lv, Weimin Zhou
Journal: Front Cardiovasc Med (2024)
Keywords: aortic stent-graft, bronchial artery aneurysm, cardiovascular surgery, endovascular treatment, transcatheter arterial embolization
MeSH terms: Case Reports

Bronchial artery aneurysm (BAA) is a rare and fatal condition that requires immediate treatment. However, conventional surgical and transcatheter arterial embolization treatments are less effective. In the present case, a 76-year-old hypertensive woman was admitted with dizziness and diagnosed with an unruptured bronchial artery aneurysm, which was treated by transcatheter arterial embolization and aortic stent-graft. The patient's clinical status was stable during the 4-year follow-up. Simultaneously, we reviewed 79 research papers, analyzing past BAA cases for their etiology, symptoms, and treatment outcomes. We found that catheter arterial embolization and aortic stent-graft implantation, especially for BAA of short-necked and arterial tortuosity, demonstrate superior efficacy compared to other methods. Therefore, we consider this approach to be the preferred choice in clinical BAA treatment.
Intra-abdominal hematomas and identifiable risk factors in patients receiving subcutaneous enoxaparin
Authors: Stephanie Lager, Gautam Balakrishnan, Riley Eiberger
Journal: PLoS One (2024)
MeSH terms: Enoxaparin / adverse effects, Heparin, Low-Molecular-Weight / therapeutic use, Aged, Anticoagulants / adverse effects, Female, Gastrointestinal Hemorrhage / chemically induced, Hematoma / chemically induced, Humans, Risk Factors, Enoxaparin, Heparin, Low-Molecular-Weight, Anticoagulants

Background:
Low molecular weight heparin has proven to be safe and effective but is not without potential risks such as spontaneous bleeding in the abdominal cavity. There is limited evidence evaluating the true incidence of this potential risk and the available literature is primarily via case reports.
Case summary:
The purpose of this study was to identify the incidence and risk factors associated with enoxaparin use (prophylaxis or treatment) abdominal hematomas in a 350-bed community hospital during an 8-month time period. A total of 44 patients were identified as clinically significant bleeds receiving enoxaparin treatment or prophylactic therapy. Ultimately, 25 patients were excluded from the analysis due to an external cause of the abdominal hematoma or a temporal mismatch in enoxaparin administration and hematoma formation. After exclusion, there were a total of 19 patients that were assessed for the risk factors such as age, gender, renal function, and weight. After evaluation of risks, over half of the patients developing a clinically significant bleed were considered elderly (>65 years of age) and impaired renal function with a creatinine clearance of 60ml/min or less.
Conclusion:
Patients at risk for an enoxaparin associated hematoma include female patients with a CrCl <60ml/min and/or BMI >30 kg/m2 receiving enoxaparin treatment dosing.
Rheumatoid Arthritis Patient With Neurofibromatosis Type 1: Case Report and Review of the Literature
Authors: Yan-Jun Li, Shu-Jie Li, Dong-Mei Li, Hong-Xia Yan, Dong-Mei Shi
Journal: Cureus (2024)
Keywords: coronary heart disease (chd), neurofibromatosis type 1 (nf1), osteoporosis (op), rheumatoid arthritis, vitamin d
MeSH terms: Case Reports

A 66-year-old neurofibromatosis type 1 (NF1) patient with polyarticular pain for nine years, aggravated for two days, was transferred from the Emergency Intensive Care Unit (EICU) to our rheumatology department. She was diagnosed with NF1 nine years ago by a gene mutation detection and coronary heart disease (CHD) three months ago. The patient was diagnosed with rheumatoid arthritis (RA) this time. After 24 days of treatment with appropriate medication, the patient was discharged with relieved joint pain. However, about four months later, the patient died of circulatory failure caused by myocardial infarction. We analyzed the possible reasons for her outcome and made a review of the literature. There are few clinical reports of NF1 complicated with RA. We found five cases reported in the literature up to date during our search and included them in our communication to compare with our case. NF1 combined with RA mainly affects adult women and usually starts with NF1 and is followed by RA after at least six years of NF1 symptom onset. Although the summarized characteristics of clinical and potential pathogenesis of NF1 combined with RA were limited with these six cases, we hope that this will help clinicians to increase their understanding of this rare complication, thus helping to guide clinical medication.
A peculiar case of onychomycosis caused by Cladosporium halotolerans
Authors: Gilglécia Novaes Pereira Santana, Catarina Glauce Martins Neff, Valeria Petri, Fernanda Aparecida Vieira Fernandes, Olga Fischman Gompertz, Marina de Moura Bello, Ruan Campos Monteiro, Daniel Archimedes Da Matta, Marília Marufuji Ogawa, Luis Henrique Barbizan de Moura, Mário Roberto de Sousa Trindade, Domingos Jordão Neto, Zoilo Pires de Camargo
Journal: Einstein (Sao Paulo) (2023)
MeSH terms: Onychomycosis / diagnosis, Onychomycosis / drug therapy, Case Reports, Humans, Middle Aged, Cladosporium halotolerans

A 49-year-old patient with changes in the nails of the hallux for 10 years was diagnosed with onychomycosis. The identity of the causative agent was confirmed as Cladosporium halotolerans from the Cladosporium sphaerospermum species complex using molecular techniques. MALDI-TOF identified the agent as C. sphaerospermum complex species. Overall, species such as onychomycosis agents should attract special attention to avoid mistakes in the identification process while considering a probable contaminant as responsible for the disease. These species deserve attention since there are rare descriptions of them as causes of onychomycosis. It is important to recognize them as causes of disease and not just as a probable contaminant.
Case Report: Development of medication-related osteonecrosis of the jaw in a patient on long-term infliximab therapy
Authors: Derek Oryniak, Meagan Brown, Lillie Cholakis, Reda Elgazzar
Journal: Front Oral Health (2024)
Keywords: crohn's disease, mronj, osteonecrosis of the jaw, denosumab, segmental resection of the jaw
MeSH terms: Case Reports

Medication-Related Osteonecrosis of the Jaw (MRONJ) is a challenging and evolving aspect of Oral and Maxillofacial Surgery. In recent years, several medications apart from those traditionally associated with MRONJ such as bisphosphates (BPs) and Denosumab (DMB) have been implicated in bony necrosis of the jaw. This aim of this report is to demonstrate a significant case of bone necrosis following dental extractions on a patient being treated with infliximab therapy for Crohn's disease. Several cases in literature have reported MRONJ associated with infliximab but very few patients have developed as significant a form of the disease as seen in this report. Previous investigators have proposed pathophysiological pathways via which TNF-α inhibitors such as infliximab have a causative mechanism for MRONJ. When osteoclastic activity is restricted via these pathways, bone healing is impaired and MRONJ can occur. However, it remains a diagnostic challenge to differentiate between antiresorptive MRONJ and chronic osteomyelitis with bone necrosis in patients with acquired immunodeficiency. This case aims to illustrate why the antiresorptive effects of TNF-α inhibitors need to be considered as a possible primary driver of bone necrosis in such patients.
Case report: Application of nonsurgical method in saving transplant renal vein thrombosis caused by acute diarrhea
Authors: Liubing Xia, Yongrong Ye, You Luo, Bin Miao, Ning Na
Journal: Front Med (Lausanne) (2023)
Keywords: acute diarrhea, anticoagulation, heparin, kidney transplantation, transplant renal vein thrombosis
MeSH terms: Case Reports

Transplant renal vein thrombosis is a rare complication after kidney transplantation, which can seriously threaten graft survival. Though the measures like thrombolytic therapy or operative intervention could be taken to deal with this complication, allograft loss is the most common outcome. Thus, early finding as well as decisive intervention is crucial to saving the graft. Here we present a 46-year-old male patient who underwent kidney transplantation from a cadaveric donor who developed a transplant renal venous thrombosis induced by acute diarrhea more than 1 year after renal transplantation with an initial symptom of sudden anuria and pain in the graft area. Subsequently, serum creatinine levels increased to 810.0 μmol/L. Pelvic CT showed increased vascular density of the transplanted kidney, and contrast-enhanced ultrasound confirmed venous thrombosis. The patient was treated with heparin sodium alone and diuresis gradually resumed. After more than 1 year of follow-up, serum creatinine returned to the baseline level prior to thrombosis. Our case indicates that quick ancillary examination and treatment without hesitation would be indispensable in rescuing allografts with renal vein thrombus. Unfractionated heparin can be recommended as an effective treatment for mid-long-term renal transplantation patients with renal vein thrombosis.
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review
Authors: Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M Colwell, Jesse M Hunter, Marco L Leung, Elaine R Mardis, Peter White, Murugu Manickam, Richard K Wilson, Daniel C Koboldt
Journal: Front Genet (2024)
Keywords: 3-mga, htra2, mgca8, autosomal recessive inheritance, compound heterozygous, leigh syndrome, mitochondrial disease, trio-whole exome sequencing
MeSH terms: Case Reports

Background: Leigh syndrome is a rare, genetic, and severe mitochondrial disorder characterized by neuromuscular issues (ataxia, seizure, hypotonia, developmental delay, dystonia) and ocular abnormalities (nystagmus, atrophy, strabismus, ptosis). It is caused by pathogenic variants in either mitochondrial or nuclear DNA genes, with an estimated incidence rate of 1 per 40,000 live births. Case presentation: Herein, we present an infant male with nystagmus, hypotonia, and developmental delay who carried a clinical diagnosis of Leigh-like syndrome. Cerebral magnetic resonance imaging changes further supported the clinical evidence of an underlying mitochondrial disorder, but extensive diagnostic testing was negative. Trio exome sequencing under a research protocol uncovered compound-heterozygous missense variants in the HTRA2 gene (MIM: #606441): NM_013247.5:c.1037A>T:(p.Glu346Val) (maternal) and NM_013247.5:c.1172T>A:(p.Val391Glu) (paternal). Both variants are absent from public databases, making them extremely rare in the population. The maternal variant is adjacent to an exon-intron boundary and predicted to disrupt splicing, while the paternal variant alters a highly conserved amino acid and is predicted to be damaging by nearly all in silico tools. Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria, type VIII (MGCA8), an extremely rare autosomal recessive disorder with fewer than ten families reported to date. Variant interpretation is challenging given the paucity of known disease-causing variants, and indeed we assess both paternal and maternal variants as Variants of Uncertain Significance under current American College of Medical Genetics guidelines. However, based on the inheritance pattern, suggestive evidence of pathogenicity, and significant clinical correlation with other reported MGCA8 patients, the clinical care team considers this a diagnostic result. Conclusion: Our findings ended the diagnostic odyssey for this family and provide further insights into the genetic and clinical spectrum of this critically under-studied disorder.
Case Report: Incidental finding of an atresia of the inferior vena cava-a challenge for cardiac surgery
Authors: Joscha Buech, Caroline Radner, Thomas Fabry, Simon Rutkowski, Christian Hagl, Sven Peterss, Maximilian A Pichlmaier
Journal: Front Cardiovasc Med (2024)
Keywords: anatomic variant, aortic surgery, computer tomograph, preoperating planning, thoracic aorta aneurysm, vena cava inferior agenesia
MeSH terms: Case Reports

Inferior vena cava atresia is a rare and usually asymptomatic condition. However, when these patients undergo cardiac surgery, it can present an unexpected and challenging situation for the surgeon. Specifically, adequate venous drainage during cardiopulmonary bypass (CPB) is a critical issue here and may require an extension of cannulation strategies. Adequate preoperative diagnostics, ideally with imaging modalities such as CT angiography or MRI, are required for optimal surgical planning. Here, we describe a rare case of thoracic ascending aortic aneurysm with concomitant inferior vena cava atresia that was successfully operated on. With adequate preoperative planning, we were able to perform an operation without unforeseen complications with standard initialization of CPB.
A Case of Unilateral Renal Agenesis Detected by Abdominal Point-Of-Care Ultrasound
Authors: Takaaki Mori, Osamu Nomura, Naoaki Mikami, Hiroshi Hataya
Journal: Cureus (2024)
Keywords: children, emergency department, intussusception, ultrasound, urogenital anomalies
MeSH terms: Case Reports

As the interest in point-of-care ultrasound (POCUS) for investigating pediatric abdominal emergencies has been growing, an increasing number of literatures about abdominal POCUS has been published. We describe a noteworthy instance of a systematic approach using abdominal POCUS for detecting unilateral renal agenesis (URA) in previously healthy children with suspected intussusception. A previously healthy three-year-old girl was brought to our emergency department (ED) due to abdominal pain and bloody diarrhea. POCUS was performed to investigate the presence of intussusception. POCUS was able to rule out intussusception and detect URA. The investigation led the patient to a proper nephrology follow-up. When performing abdominal POCUS to evaluate gastrointestinal pathologies, it is important to pay attention to concomitant congenital anomalies of the kidney and urinary tract (CAKUT).
TMVR after TA-TAVR: a re-redo surgery-case report
Authors: Nina Sophie Pommert, Thomas Puehler, Inga Voges, Stephanie Sellers, Georg Lutter
Journal: Front Cardiovasc Med (2024)
Keywords: tavr, tmvr, tendyne, case report, redo transapical access
MeSH terms: Case Reports

Introduction:
Transcatheter mitral valve replacement (TMVR) is a valuable treatment option in patients with severe mitral regurgitation. Prior transapical transcatheter aortic valve replacement (TA-TAVR) may complicate the procedure and is therefore considered a relative contraindication. In this case report, the authors describe the successful TMVR as a tertiary cardiac surgery and transapical redo procedure.
Case summary:
An 83-year-old male patient, suffering from dyspnoea and angina, was diagnosed with severe mitral valve regurgitation (MR). He had already undergone cardiac surgery in the form of coronary artery bypass grafting at the age of 64 and TA-TAVR at 79 years. After a failed attempt at mitral valve transcatheter edge-to-edge repair, he opted for TMVR. Pre-TMVR computed tomography simulation was used to analyse possible interactions between the prostheses and to predict the neo-left ventricular outflow tract (neo-LVOT). The operation was carried out without complications. There was no bleeding and the LV function remained unchanged. On MRI, the valves were perfectly aligned without any signs of paravalvular leakage or LVOT obstruction. The patient was discharged seven days postoperatively. At the one-year follow up, there was no need for rehospitalisation and the patient had clinically improved (from NYHA IV to II). Echocardiography demonstrated a mean transvalvular gradient of under 5 mmHg and no residual MR.
Conclusion:
A redo transapical access for TMVR as a tertiary cardiac operation can be easily performed. Pre-operative CT suggested good alignment of the aortic and mitral valved stent which was confirmed postoperatively.