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Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.
Data Brief
February 2025
Department of Child Health, Faculty of Medicine, Dr. Cipto Mangunkusumo Hospital, University of Indonesia, Jakarta 10430, Indonesia.
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders.
View Article and Find Full Text PDFAn Unusual Case Report of Duodenojejunal Flexure Tumor With a Systematic Review of the Literature.
Cureus
December 2024
Gastroenterology and Hepatology, Kalinga Institute of Medical Sciences, Bhubaneswar, IND.
The small intestine is the longest segment of the gastrointestinal (GI) tract, but cancers in the small intestine are infrequent. The duodenojejunal (DJ) flexure is an uncommon site for tumors, and those located in these sites are difficult to identify and manage properly. Their rarity, along with ambiguous symptoms that can be readily misattributed to milder conditions, results in a delayed diagnosis when the tumors have significantly advanced.
View Article and Find Full Text PDFEarly Radiographic Warning Signs of Impending Lemierre's Syndrome.
Cureus
December 2024
Otolaryngology - Head and Neck Surgery, Albany Medical Center, Albany, USA.
Lemierre's syndrome is a rare and potentially life-threatening complication of head and neck infections, such as bacterial pharyngitis or tonsillitis. It is characterized by the extension of infection into the lateral pharyngeal spaces, leading to subsequent septic thrombophlebitis of the internal jugular vein(s). Although relatively uncommon since the advent of appropriate antibiotic therapy, the incidence of Lemierre's syndrome has increased in the past 15 years, especially among young, healthy adults.
View Article and Find Full Text PDFAn Unusual Case of Acute Abdomen With Jaundice.
Cureus
December 2024
Cardiology, University Clinics of Kinshasa, Kinshasa, COD.
Adrenocortical carcinomas are rare but aggressive tumors that are frequently discovered as incidentalomas. Secretory tumors often lead to endocrine abnormalities, namely cushingoid features, virilization, or feminization. Non-functioning tumors, on the other hand, can be completely dormant with an insidious course or cause malaise, weight loss, abdominal pain, etc.
View Article and Find Full Text PDFThe clinical impact of recent amphetamine exposure in aneurysmal subarachnoid hemorrhage patients.
Front Neurol
January 2025
Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.
Background: Amphetamines possess sympathomimetic properties that can affect cerebral vasculature though conflicting reports exist about their effect on vasospasm risk and clinical outcomes in aneurysmal subarachnoid hemorrhage. This study aimed to characterize the impact of recent amphetamine use on vasospasm development in aneurysmal subarachnoid hemorrhage as well as neurological outcomes.
Methods: We retrospectively screened 441 consecutive patients admitted with a diagnosis of subarachnoid hemorrhage who underwent at least one cerebral digital subtraction angiogram.
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