Internal Medicine - United States News Beep

Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature | Journal of Medical Case Reports

August 29, 2025

BORS is a rare autosomal dominant genetic disorder with significant heterogeneity in clinical practice, and the penetrance rate…

GGenetics

Cholecystitis and cholangiocarcinoma: a two-sample Mendelian randomization study | BMC Gastroenterology

August 26, 2025

This study represents the first study to systematically evaluate the causal link between genetic susceptibility to cholecystitis and…

GGenetics

Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report | Journal of Medical Case Reports

August 11, 2025

The pathophysiology of BBS is thought to be caused by or involve at least 28 distinct genes. The…

GGenetics

Neuro-ophthalmology and migraine: visual aura and its neural basis | International Journal of Emergency Medicine

August 11, 2025

This narrative review explores the pathophysiology, clinical presentation, and management of visual aura in migraine, with a particular…

GGenetics

Investigating the shared genetic information between serum concentration levels of liver enzymes and cholelithiasis | BMC Gastroenterology

August 7, 2025

GWAS summary data Genome-wide association study (GWAS) summary statistics were obtained from three publicly available databases: OPEN GWAS…

GGenetics

Association of polymorphisms and abnormal methylation of several autophagy genes with pulmonary tuberculosis susceptibility, clinical manifestations in a Chinese population | BMC Infectious Diseases

July 22, 2025

World Health Organization. Global tuberculosis report 2021. https://www.who.int/publications/digital/global-tuberculosis-report-2021. Carabalí-Isajar ML, Rodríguez-Bejarano OH, Amado T, Patarroyo MA, Izquierdo MA,…

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Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

July 21, 2025

Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…

GGenetics

Hallmarks of primary headache: part 2– Tension-type headache | The Journal of Headache and Pain

July 17, 2025

Collaborators GDaI (2020) Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic…

GGenetics

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case Reports

July 12, 2025

Case 1 Case 1 involved a 6-year-old boy who was born full-term via normal vaginal delivery with a…