$6 million gift advances cardiac care at McLaren Flint Hospital | Health
FLINT, Mich. (WJRT) – A $6 million donation from Joe and Julie Serra is set to transform cardiac…
Identification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome | BMC Nephrology
The patient is a 27-year-old male who was admitted to our hospital on March 24, 2022, owing to…
Epidemiological analysis of syphilis trends, disparities, and public health implications in the United States, 2018–2022 | BMC Infectious Diseases
Trends in common sexually transmitted infections in the United States, 2018–2022 Recent epidemiological trends highlight a shifting and…
Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature | Journal of Medical Case Reports
BORS is a rare autosomal dominant genetic disorder with significant heterogeneity in clinical practice, and the penetrance rate…
Cholecystitis and cholangiocarcinoma: a two-sample Mendelian randomization study | BMC Gastroenterology
This study represents the first study to systematically evaluate the causal link between genetic susceptibility to cholecystitis and…
Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report | Journal of Medical Case Reports
The pathophysiology of BBS is thought to be caused by or involve at least 28 distinct genes. The…
Neuro-ophthalmology and migraine: visual aura and its neural basis | International Journal of Emergency Medicine
This narrative review explores the pathophysiology, clinical presentation, and management of visual aura in migraine, with a particular…
Investigating the shared genetic information between serum concentration levels of liver enzymes and cholelithiasis | BMC Gastroenterology
GWAS summary data Genome-wide association study (GWAS) summary statistics were obtained from three publicly available databases: OPEN GWAS…
Association of polymorphisms and abnormal methylation of several autophagy genes with pulmonary tuberculosis susceptibility, clinical manifestations in a Chinese population | BMC Infectious Diseases
World Health Organization. Global tuberculosis report 2021. https://www.who.int/publications/digital/global-tuberculosis-report-2021. CarabalÃ-Isajar ML, RodrÃguez-Bejarano OH, Amado T, Patarroyo MA, Izquierdo MA,…
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…
Hallmarks of primary headache: part 2– Tension-type headache | The Journal of Headache and Pain
Collaborators GDaI (2020) Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic…
Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case Reports
Case 1 Case 1 involved a 6-year-old boy who was born full-term via normal vaginal delivery with a…