OpenMed/multicare-articles huggingface dataset:
A Case of Spurting Bleeding After Endoscopic Papillary Balloon Dilation
Authors: Kento Shionoya, Kazuya Koizumi, Sakue Masuda, Jun Kubota, Karen Kimura, Makomo Makazu
Journal: Gastro Hep Adv (2023)
Keywords: common bile duct stone, epbd, ercp, est, prasugrel, warfarin
MeSH terms: Case Reports

A 58-year-old male with acute cholangitis due to a common bile duct stone underwent endoscopic retrograde cholangiopancreatography for stone removal with endoscopic papillary balloon dilation (EPBD) due to his high bleeding risk owing to maintenance dialysis and antiplatelet and anticoagulant medications. He had a history of stone removal using an EPBD. The stone was removed; however, the patient subsequently developed spurting bleeding and underwent endoscopic hemostasis. Despite the subsequent mild pancreatitis, he recovered with conservative management. While EPBD is considered a low-risk procedure for bleeding, caution should still be exercised due to the possibility of massive postprocedural bleeding.
Vitamin B12 Deficiency Disguised As Hemolytic Anemia: A Case Presentation
Authors: Thaer A Abdul Hadi, Snehaja Ananthasivan, Aline Bitarelli, Erlyn Smith
Journal: Cureus (2024)
Keywords: anemia, cobalamin deficiency, nutritional deficiency, vitamin b12 deficiency anemia, vitamin b12-induced hemolytic anemia
MeSH terms: Case Reports

This case report describes an 18-month-old male presenting with hemolytic anemia and lethargy, who was ultimately diagnosed with severe vitamin B12 deficiency. The child exhibited global developmental delays, including a lack of speech and walking skills. Initially suspected as intravascular hemolytic anemia, the normal reticulocyte count led to further investigation, which revealed low cobalamin (vitamin B12) levels. The patient received vitamin B12 injections, resulting in normalized cobalamin levels. Additional evaluations ruled out metabolic disorders and other etiologies for his anemia. Follow-up laboratory testing showed improved hemoglobin levels, and the patient was discharged with plans for close monitoring. The case emphasizes the importance of considering vitamin B12 deficiency in children, particularly those with developmental delays and anemia. Early diagnosis and treatment are crucial for preventing long-term neurological consequences associated with severe and prolonged cobalamin deficiency. Healthcare professionals should be aware of the impact of nutrient deficiencies on growth, development, and brain maturation in pediatric populations.
Missed Proximal Tracheoesophageal Fistula (TEF) in a Neonate with Type D Esophageal Atresia
Authors: Julia E Menso, Maud A Reijntjes, Matthijs W Oomen, Rico N P M Rinkel, Suzanne W J Terheggen-Lagro, Ramon R Gorter
Journal: European J Pediatr Surg Rep (2024)
Keywords: diagnosis, esophageal atresia, tracheoesophageal fistula, type d
MeSH terms: Case Reports

We present the case of a patient with the rare type D esophageal atresia (EA), diagnosed after correction of an EA initially diagnosed as type C. Routine postoperative contrast esophagogram showed a missed proximal tracheoesophageal fistula. This case report illustrates the potential difficulties to diagnose type D EA.
Massive Pulmonary Arteriovenous Malformation as a Cause of Fetal Heart Failure
Authors: Joao Oliveira Dias, Ana Catarina Lai, Orlando Rodrigues, Paula Martins, Miguel Branco, Raquel Pina, António Pires
Journal: Cureus (2024)
Keywords: arteriovenous malformations, cardiomegaly, fetal echocardiogram, fetal heart failure, termination of pregnancy
MeSH terms: Case Reports

Pulmonary arteriovenous malformations (AVMs) are abnormal connections between the pulmonary arteries and veins that can result in rapid-onset heart failure. We present a case of a fetus with pulmonary AVMs diagnosed at 22 weeks gestation. Fetal echocardiography showed cardiomegaly and dilated pulmonary arteries and veins reflecting the hemodynamic significance of the shunt. Inverted flow through the ductus arteriosus was also present. Fetal autopsy following medical termination of the pregnancy confirmed the morphological findings, including displacement of arteries and veins in proximity to the pleural surface. The genetic study was negative. This report highlights the cardiovascular impact of a rare disorder. Inverted flow through the ductus arteriosus may be another poor prognostic indicator, useful in parental counseling.
Case Report: Treatment of the rare B-cell lymphoblastic lymphoma with scalp lesion using rotation flap
Authors: Timothy Kim, Geena Jung, Emery Buckner-Wolfson, Ryan Fatemi, Genesis Liriano, Adit Tal, Yanhua Wang, Oren Tepper, Andrew Kobets
Journal: Front Oncol (2023)
Keywords: b-cell lymphoblastic lymphoma, acute lymphoblastic leukemia, non-hodgkin’s lymphoma, rotation flap, scalp lesion
MeSH terms: Case Reports

Introduction:
Leukemia is the most frequently occurring cancer in children, and lymphoblastic lymphoma (LBL) is a rare subtype. LBL are lymphoid neoplasms of B or T cell origin and are primarily treated with chemotherapy. Although cure rates among children are excellent, these patients must be monitored for relapse. Cutaneous lesions involving B-cell LBL (B-LBL) are extremely rare and here we present a patient with a worsening B-LBL scalp mass who required radical surgical excision.
Case report:
A 6-year-old female patient with a history of a nontender scalp mass discovered at approximately 2-3 years of age was evaluated for resection of the nodule due to its size and treatment history. The patient was originally diagnosed with follicular lymphoma by punch biopsy; excision was successfully performed on this 4 cm lesion and upon examination of the skin biopsy did we get a diagnosis of B-LBL. Reconstruction of the scalp was done through the rotation flap method. The patient's scalp healed well, and adjuvant chemotherapy was continued. There has been no reoccurrence.
Discussion:
Here we report the rarity of B-LBL cases involving extranodal involvement in the scalp. The most common reconstruction of scalp lesions has been using free flap from the anterolateral thigh (ALT) and latissimus dorsi (LD). Our case used the rotation flap, which has its functional and cosmetic benefits. The importance of monitoring this patient is emphasized due to the dangerous consequences of B-LBL relapse. Ultimately, our successful treatment and care of this rare case can be used as guidance for similar patients in the future.
Hyperintense Perilesional Edema on T1-Weighted Imaging in Cavernoma: A Case Report
Authors: Ibrahim A Alturki, Tareq A Alluhidan, Abdulrahman A Alturki, Faisal S Alzahrani, Nawaf A Alluwaymi
Journal: Cureus (2024)
Keywords: cerebral cavernoma, mri findings, neuro radiology, perilesional edema, vascular anomaly
MeSH terms: Case Reports

Cavernoma, also called a cavernous malformation, is a vascular malformation that happens during development. It tends to look like a berry-shaped lesion. In cerebral hemorrhagic cavernous malformations (cavernoma), T1-weighted imaging that shows hyperintense perilesional edema in brain masses is an unusual radiological finding. This sign's association with cavernoma is gaining prominence. We present the case of a 35-year-old female patient without significant medical history who reported a seven-day history of left-side weakness that began in the upper limb, progressed to the lower limb, and was associated with nausea. The non-contrast T1- T1-weighted images displayed a gradient of hyperintense content of the lesion with surrounding relatively hyperintense perilesional edema. The patient consequently underwent surgery to evacuate the hematoma and excise the lesion, which went uneventfully.
Mucinous adenocarcinoma derived from villous adenoma of the kidney with muconephrosis
Authors: Tsubasa Kawamoto, Masanori Ishida, Takashi Yorozu, Elly Arizono, Yukari Wakabayashi, Toshitaka Nagao, Yoshio Ohno, Kazuhiro Saito
Journal: Clin Case Rep (2024)
Keywords: kidney, mucin, mucinous adenocarcinoma, pelvis, villous adenoma
MeSH terms: Case Reports

Upper respiratory tract villous adenoma (VA) with muconephrosis is rare and should be included in the differential diagnosis when pelvic dilatation with a solid component is detected. VA may transform into malignant mucinous adenocarcinoma, which should be suspected if contrast enhancement on computed tomography (CT)/magnetic resonance imaging (MRI) and restricted diffusion on MRI are observed.
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis
Authors: Bixin Xi, Siying Liu, Yongbing Zhu, Dedong Zhang, Yu Zhang, Aiguo Liu
Journal: Front Genet (2023)
Keywords: sptb gene, genetic analysis, hereditary spherocytosis, intronic inversion variant, next-generation sequencing
MeSH terms: Case Reports

Background: Hereditary spherocytosis (HS) is a congenital haemolytic anaemia attributed to dysregulation or abnormal quantities of erythrocyte membrane proteins. Currently, the most common erythrocytic gene, spectrin β (SPTB), variants are located in exons and give rise to mRNA defects. However, the genetic characteristics and pathogenic mechanisms of SPTB intronic variants are not completely understood. This study aimed to analyse a rare intronic inversion variant in the SPTB gene associated with HS, and explore the impact of the variant on SPTB mRNA splicing. Method: The clinical manifestations of the patient were summarised and analysed for spherocytosis phenotype diagnosis. The pathogenic variant was identified in the proband using targeted next-generation and Sanger sequencing. RNA sequencing was performed to analyse whether SPTB gene splicing and expression were affected. Results: Targeted next-generation sequencing identified a novel disease-associated intronic inversion variant of the SPTB gene in the proband. The inversion variant was located between intron 19 and 20, and contained the entire exon 20 and partial sequences of adjacent introns. Sanger sequencing confirmed that the intronic inversion variant only appeared in the genome of the proband, not in his parents. RNA sequencing revealed that the variant could result in the skipping of exon 20 and reduced expression of SPTB mRNA. Conclusion: This study identifies a rare intronic inversion variant in the SPTB gene associated with hereditary spherocytosis. The pathogenic variant can lead to exon 20 skipping and decreased SPTB gene expression. This finding has not been previously reported in any literature. This study can expand the intronic variant spectrum of the SPTB gene, deepen our understanding of HS pathogenesis, and contribute to the genetic diagnosis and clinical management of patients.
Brucellosis infection complicated with myelitis: a case report and literature review
Authors: Xiaoyu Ma, Ying Wang, Qiong Wu, Xiaomei Ma, Qiang Wang, Qinghong Guo
Journal: Front Cell Infect Microbiol (2024)
Keywords: metacap™, ganglioside, hormone therapy, myelitis, neurobrucellosis
MeSH terms: Anti-Bacterial Agents / therapeutic use, Brucellosis / complications, Brucellosis / diagnosis, Brucellosis / drug therapy, Brucellosis / microbiology, Myelitis / diagnosis, Myelitis / drug therapy, Myelitis / microbiology, Case Reports, Review, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Treatment Outcome, Anti-Bacterial Agents

Brucellosis is a zoonotic disease caused by a Gram-negative coccus a facultative intracellular pathogen. Neurobrucellosis has an incidence rate of 3-7% among all patients with brucellosis, while spinal cord involvement is rare and carries a significant mortality risk. This report describes a case of brucellosis myelitis in a 55-year-old male patient who presented with recurrent paralysis, incontinence, and damage to the visual and auditory nerves. The diagnosis of neurobrucellosis involves a serum tube agglutination test, cerebrospinal fluid analysis, a physical examination of the nervous system, and a comprehensive review of the patient's medical history. The presence of brucellosis was confirmed in cerebrospinal fluid using MetaCAP™ sequencing. Treatment with a combination of rifampicin, doxycycline, ceftriaxone sodium, amikacin, compound brain peptide ganglioside, and dexamethasone resulted in significant improvement of the patient's clinical symptoms and a decrease in the brucellosis sequence count in cerebrospinal fluid. For the first time, MetaCAP™ sequencing has been used to treat pathogenic microbial nucleic acids, which could be a valuable tool for early diagnosis and treatment of neurobrucellosis.
Matricide and schizophrenia- psychopathological, psychodynamic, and forensic aspects: a case report
Authors: Alexandre Martins Valença, Letícia Rodrigues de Almeida, Gustavo Carvalho de Oliveira, Milena Ferreira França, Antônio Geraldo da Silva, Lisieux Borba Telles, Antonio Egidio Nardi
Journal: Front Psychiatry (2023)
Keywords: forensic – psychiatric practice, homicide, matricide, mental disorder, psychosis, schizophrenia, violence
MeSH terms: Case Reports

Matricide is the murder of a mother by her son or daughter, a form of homicide rarely seen in psychiatric practice. A narrative review was conducted on the relationship between matricide and schizophrenia, followed by a case report in Brazil of a schizophrenic patient who murdered his mother and was submitted to forensic psychiatric assessment for criminal liability. The article discusses psychopathological, psychodynamic, and forensic aspects related to the case. The observation of ambivalent and conflictive relations between schizophrenic individuals and their mothers suggests the need for family-level interventions to resolve the understandable occurrence of emotional conflicts, which can serve as stimuli that trigger the murder.
Case report: Radiofrequency-induced thermal burn injury in a dog after magnetic resonance imaging
Authors: Esther A Lichtenauer, Koen M Santifort, Niklas Bergknut, Iris van Soens, Martijn Beukers, Ines Carrera
Journal: Front Vet Sci (2024)
Keywords: mri complication, shar-pei, induction, skin folds, thermal injury
MeSH terms: Case Reports

A 10-year-old male Shar-Pei was referred for lethargy and proprioceptive deficits of the left thoracic limb. An magnetic resonance imaging (MRI) examination of the cervical spinal column and the brain was performed. The MRI examination of the brain was normal. A left-sided C3-C4 intervertebral disc extrusion with spinal cord compression was diagnosed. Medical treatment was elected. Within a week after the MRI examination, the dog presented with deep partial-thickness skin burn wounds in both axillae. Since the specific absorption rate had not exceeded the safety limits during any of the scans and no other procedures or circumstances were identified that could possibly have resulted in burn injuries, the thermal burn injuries were diagnosed as radiofrequency (RF) burns. The wounds healed by secondary intent over the next month. RF burns are the most reported complication in humans undergoing MRI but have not been reported in veterinary patients. Clinicians and technicians should consider the potential risk for RF burns in veterinary patients and take precautions regarding positioning of the patient and take notice of any signs of burn injury when performing follow-up examinations.
A Case in Which HLA-DR4 is Involved in the Development of Complex Immune-Related Endocrinological Adverse Events following Combination Therapy with Nivolumab and Ipilimumab
Authors: Yonekazu Kidawara, Manabu Kadoya, Miki Kakutani-Hatayama, Hidenori Koyama
Journal: Case Rep Endocrinol (2024)
MeSH terms: Case Reports

Immune checkpoint inhibitors (ICIs) have become a focal point in cancer immunotherapy, though their utilization is also linked to the occurrence of diverse immune-related adverse events (irAEs). Herein, we present details of a 42-year-old woman diagnosed with a malignant vaginal melanoma who underwent ICI therapy with the combination of nivolumab and ipilimumab. Approximately two months after initiating therapy, the patient manifested destructive thyroiditis and fulminant type 1 diabetes mellitus, thus necessitating intensive insulin therapy. Following the onset of adrenocorticotropic hormone deficiency, frequent hypoglycemic episodes prompted the initiation of replacement therapy with hydrocortisone. Human leukocyte antigen (HLA)-DNA typing revealed the presence of HLA-DRB1∗04 : 05 and DQB1∗04 : 01. HLA-DR4 has been suggested to be associated with the development of multiple endocrine irAEs. This is the first reported case of three endocrine irAEs occurring within a short period, in which the presence of HLA-DR4 may have contributed to the pathogenesis.
Drug-related: A case of idiopathic mesenteric phlebosclerosis combined with calcification of the esophageal veins
Authors: Chang Liu, Li Li
Journal: JGH Open (2024)
Keywords: drug‐related, esophageal vein calcification, idiopathic mesenteric phlebosclerosis
MeSH terms: Case Reports

Idiopathic mesenteric phlebosclerosis (IMP) is characterized by mesenteric vein calcification and ischemic bowel disease. We describe a unique clinical case of IMP in a patient with a history of oral administration of various drugs, including traditional Chinese medicines (mainly selfheal), vitamin D, and calcium supplements. The disease was not diagnosed in its early stages and was later detected because of the initial symptoms of chest tightness and difficulties in swallowing. During medical examination, esophageal venous sinuses were found through gastroscopy, and CT revealed thickening and widespread calcification of the colonic wall (esophageal wall calcification). Moreover, typical purple-brown changes in the colonic mucosa were found during colonoscopy. Microscopic examination showed more foam phagocyte, focal lymphocyte aggregation, small-vessel proliferation, and surrounding collagen-like deposition which is a typical finding of IMP. More specifically, the patient's mesenteric veins and colon veins were calcified, and the calcification extended to the esophageal veins. These findings were related to long-term use of traditional Chinese medicines (mainly selfheal). It is possible that excessive intake vitamin D and calcium supplementation may have played a role in the occurrence of vascular calcification, which might have exacerbated the progression of IMP disease.
Plasmapheresis in post-COVID-19 myelitis: A case report
Authors: Witoon Mitarnun, Lisa Kongngern, Praewa Tantisungvarakoon, Theerapun Boonsayomphu, Nithit Tianchetsada, Tanluck Potchanapong
Journal: Qatar Med J (2024)
Keywords: covid-19, myelitis, plasmapheresis, severe acute respiratory syndrome coronavirus 2, steroids

Background:
Previous studies have delineated different neurological manifestations associated with coronavirus disease 2019 (COVID-19). Myelitis is identified as a rare neurological complication resulting from a COVID-19 infection. Limited information is available regarding the treatment of patients experiencing this condition.
Case report:
This report extracts data from the medical record of a post-COVID-19 myelitis patient at Buriram Hospital and follows up prospectively on the patient's symptoms after treatment. A 61-year-old man, previously vaccinated for COVID-19 and with a history of hypertension and dyslipidemia, experienced progressive bilateral lower-extremity weakness (recorded as muscle strength grade 2/5 in both lower extremities) for 6 weeks. He had a mild case of COVID-19 2 months earlier, which resolved in 10 days without specific treatment. However, 2 weeks after being diagnosed with COVID-19, he developed weakness in his lower limbs, numbness below the nipple, and urinary retention. Spinal magnetic resonance imaging revealed multifocal longitudinal myelitis. Despite initial treatment with methylprednisolone, the patient showed no clinical improvement. Consequently, he underwent five cycles of plasmapheresis. Three months after discharge, a notable improvement was observed, with his muscle strength graded at 4/5 in both lower extremities and the resolution of sensory and urinary symptoms.
Conclusions:
We presented the case of a COVID-19-vaccinated patient, in whom COVID-19 infection might have led to myelitis. We found promising results in treating prolonged COVID-19-related myelitis symptoms through the use of plasmapheresis.
A maxillary location of extra-nodal Rosai Dorfman disease: a case report
Authors: Yassine Bennaoui, Mohamed Salah Koussay Hattab, Fadoua Fettal, Zakaria Aziz, Hanane Rais, Nadia Mansouri Hattab
Journal: Pan Afr Med J (2024)
Keywords: rosai-dorfman, case report, emperipolesis, maxilla, sinus histiocytosis
MeSH terms: Histiocytosis, Sinus / diagnosis, Histiocytosis, Sinus / pathology, Case Reports, Adult, Biopsy, Diagnosis, Differential, Emperipolesis, Female, Humans

Introduction: Rosai-Dorfman disease (RDD) is a rare benign histiocytic proliferation, characterized by a group of clinical symptoms. This report presents a case of extranodal RDD manifesting as a progressively enlarging left maxillary mass in a 42-year-old woman. Surgical exploration and biopsy confirmed the diagnosis of RDD, with characteristic histopathological features including emperipolesis. Treatment involved corticotherapy, resulting in controlled maxillary pain and improvement of the disease after one year. This case underscores the potential for extra-nodal RDD presentations, posing diagnostic challenges and emphasizing the importance of considering RDD in the differential diagnosis of maxillary masses.
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy
Authors: Ilaria Mosca, Elena Freri, Paolo Ambrosino, Giorgio Belperio, Tiziana Granata, Laura Canafoglia, Francesca Ragona, Roberta Solazzi, Ilaria Filareto, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Jacopo C DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela
Journal: Front Cell Neurosci (2024)
Keywords: kcnt1, drug repurposing, epilepsy, fluoxetine, next generation sequencing
MeSH terms: Case Reports

Variants in KCNT1 are associated with a wide spectrum of epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS developmental and epileptic encephalopathies, autosomal dominant or sporadic sleep-related hypermotor epilepsy, and focal epilepsy. Here, we describe a girl affected by drug-resistant focal seizures, developmental delay and behavior disorders, caused by a novel, de novo heterozygous missense KCNT1 variant (c.2809A > G, p.S937G). Functional characterization in transiently transfected Chinese Hamster Ovary (CHO) cells revealed a strong gain-of-function effect determined by the KCNT1 p.S937G variant compared to wild-type, consisting in an increased maximal current density and a hyperpolarizing shift in current activation threshold. Exposure to the antidepressant drug fluoxetine inhibited currents expressed by both wild-type and mutant KCNT1 channels. Treatment of the proband with fluoxetine led to a prolonged electroclinical amelioration, with disappearance of seizures and better EEG background organization, together with an improvement in behavior and mood. Altogether, these results suggest that, based on the proband's genetic and functional characteristics, the antidepressant drug fluoxetine may be repurposed for the treatment of focal epilepsy caused by gain-of-function variants in KCNT1. Further studies are needed to verify whether this approach could be also applied to other phenotypes of the KCNT1-related epilepsies spectrum.