Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.
Medicine (Baltimore)
October 2024
Department of Neurology, The Affiliated Nanhua Hospital, Hengyang Medical School, University of South China, Hengyang, China.
Article Synopsis
- Tuberous sclerosis (TSC) is a genetic condition caused by mutations in the TSC1 and TSC2 genes, leading to various health issues for patients and families due to challenges in diagnosis and unverified gene variants.
- A 33-year-old Chinese male patient with TSC presented symptoms like intellectual disability, epilepsy, and organ tumors, prompting genetic testing to find the harmful variant.
- The patient was diagnosed with TSC after identifying a specific mutation and was treated with medications, but he continues to experience significant health challenges, highlighting the variability of TSC symptoms.
Endoscopic detorsion of sigmoid volvulus in a young female: a case report.
J Med Case Rep
August 2024
Department of Gastroenterology, Aga Khan University Hospital, Karachi, Pakistan.
Background: A volvulus refers to the torsion or rotational twisting of a portion of the gastrointestinal tract, with a predilection for impacting the caecum and sigmoid colon, often resulting in the development of bowel obstruction. The risk factors associated are old age, chronic fecal impaction, psychiatric disorders, colonic dysmotility, prior abdominal surgical procedures, diabetes, and Hirschsprung's disease. Elderly are most commonly affected with sigmoid volvulus but there are few cases among young adults that culminate in grave complications.
View Article and Find Full Text PDFSmall bowel obstruction due to internal herniation through a right side diaphragmatic defect; an unusual case report.
Int J Surg Case Rep
July 2024
Department of Emergency Surgery & Trauma, Kabul University of Medical Sciences, Kabul, Afghanistan. Electronic address:
Introduction: Right-side diaphragmatic hernia is a very rare cause of bowel obstruction and strangulation in adults, which is usually a congenital disorder.
Case Presentation: A- 55-year-old male presented to the emergency department of our hospital complaining of abdominal pain, nausea, vomiting, abdominal distension, fever, and constipation for 4 days. On physical examination, the patient was fibril, toxic, tachycardic, and hypotensive.
Subclinical paraganglioma of the retroperitoneum: A case report.
World J Clin Cases
May 2024
Department of Hepatobiliary and Pancreatic Surgery, Puer People's Hospital, Puer 665000, Yunnan Province, China.
Background: Paraganglioma (PGL) located in the retroperitoneum presents challenges in diagnosis and treatment due to its hidden location, lack of specific symptoms in the early stages, and absence of distinctive manifestations on imaging.
Case Summary: A 56-year-old woman presented with a left upper abdominal mass discovered 1 wk ago during a physical examination. She did not have a history of smoking, alcohol consumption, or other harmful habits, no surgical procedures or infectious diseases, and had a 4-year history of hypertension.
Ectopic pancreas induced ileocecal intussusception: A rare case report.
Int J Surg Case Rep
June 2024
Department of Gastrointestinal Surgery, Qingdao Central Hospital, University of Health and Rehabilitation Sciences, Qingdao 266042, Shandong Province, China. Electronic address:
Introduction and importance: Ectopic pancreas is not uncommon, but ileocecal intussusception caused by ectopic pancreas is extremely rare. Thus far, only approximately 10 cases have been reported. Case presentation: Herein, we report a 47-year-old male who presented with abdominal distension and discomfort without apparent cause, accompanied by nausea but no vomiting or other symptoms.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!