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Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia.
AACE Clin Case Rep
August 2024
Department of Endocrinology, Endocrine Associates of West Village, New York City, New York.
Background/objective: Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.
Case Report: A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily.
Integrated hepatic transcriptomics and metabolomics identify Pck1 as a key factor in the broad dysregulation induced by vehicle pollutants.
Part Fibre Toxicol
December 2024
Division of Cardiology, David Geffen School of Medicine, University of California-Los Angeles, 10833 Le Conte Avenue, CHS 43-264, P.O. Box 951679, Los Angeles, CA, 90095, USA.
Background: Exposure to air pollution is associated with worldwide morbidity and mortality. Diesel exhaust (DE) emissions are important contributors which induce vascular inflammation and metabolic disturbances by unknown mechanisms. We aimed to determine molecular pathways activated by DE in the liver that could be responsible for its cardiometabolic toxicity.
View Article and Find Full Text PDF[A retrospective analysis of the clinical characteristics of 63 patients with vestibular neuritis].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
January 2025
To retrospectively analyze the results of auditory examination,vestibular function examination and laboratory examination of 63 patients diagnosed as vestibular neuritis.Methods:A total of 63 patients diagnosed with vestibular neuritis hospitalized in the Department of Otolaryngology, Head and Neck Surgery of the Third Affiliated Hospital of Sun Yat-sen University, from October 2012 to December 2022 were recruited. All patients met the diagnostic criteria for the 2022 Bárány association vestibular neuritis.
View Article and Find Full Text PDFAssociation of Biopsy-proven Nonalcoholic Fatty Liver Disease with Obesity and Apolipoproteins.
J Gastrointestin Liver Dis
December 2024
Department of Gastroenterology, Gulhane School of Medicine, Ankara, Turkey.
Background And Aims: Insulin resistance is considered the most important key mechanism in the development of nonalcoholic fatty liver disease (NAFLD). Some studies have reported that hyperinsulinemia decreases the hepatic secretion of apolipoprotein (Apo) B. Chronic hyperinsulinemia in NAFLD may be responsible for the accumulation of triglycerides in hepatocytes.
View Article and Find Full Text PDFXbaI polymorphism in the APOB gene and its association with increased cholesterol in children and adolescents: Ouro Preto study.
Sci Rep
December 2024
Postgraduate Program in Health and Nutrition, School of Nutrition, Federal University of Ouro Preto, Ouro Preto, 35400-000, Brazil.
Atherosclerotic vascular changes can begin during childhood, providing risk for cardiovascular disease (CVD) in adulthood. Identifiable risk factors such as dyslipidemia accelerate this process for some children. The apolipoprotein B (APOB) gene could help explain the inter-individual variability in lipid levels among young individuals and identify groups that require greater attention to prevent CVD.
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