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Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Atheroscler Plus
March 2025
Department of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Background And Aims: Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic disorders that remain underdiagnosed and undertreated, due in part to the cost of screening. The aim of this study was to design and implement a whole gene targeted NGS panel for the molecular diagnosis of FH and statin intolerance with an emphasis on high quality variant calling, including copy number analysis.
Methods: A whole gene panel for hybridisation-based short read NGS was designed for the dominant FH-genes low density lipoprotein receptor (), apolipoprotein B (APOB), proproteinconvertas subtilisin/kexin type 9 (PCSK9), apolipoprotein E (APOE) and the recessive FH-genes low density lipoprotein receptor adaptor protein 1 (), ATP binding cassette subfamily member 5/8 (ABCG5/8) and lipase A, lysosomal acid type (), as well as solute carrier organic anion transporter family member 1B1 (), not an FH gene but linked to statin intolerance.
Systematic Review on Efficacy, Effectiveness, and Safety of Pitavastatin in Dyslipidemia in Asia.
Healthcare (Basel)
December 2024
Faculty of Pharmacy, Le Van Thinh Hospital, Ho Chi Minh City 700000, Vietnam.
Dyslipidemia, a significant risk factor for cardiovascular disease (CVD), is marked by abnormal lipid levels, such as the elevated lowering of low-density lipoprotein cholesterol (LDL-C). Statins are the first-line treatment for LDL-C reduction. Pitavastatin (PIT) has shown potential in lowering LDL-C and improving high-density lipoprotein cholesterol (HDL-C).
View Article and Find Full Text PDFNew insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience.
Front Endocrinol (Lausanne)
January 2025
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Naples, Italy.
Familial hypercholesterolemia (FH) is a genetic disease, usually with onset during childhood, characterized by elevated blood LDL cholesterol levels and potentially associated with severe cardiovascular complications. Concerning mutated genes in FH, such as , a small subset of FH patients presents a homozygous genotype, resulting in homozygous FH (HoFH) disease with a generally aggressive phenotype. Besides statins, ezetimibe and PCSK9 inhibitors, lomitapide (an anti-ApoB therapy) was also approved in 2012-2013 as an adjunctive treatment for HoFH.
View Article and Find Full Text PDFPAC1 Agonist Maxadilan Reduces Atherosclerotic Lesions in Hypercholesterolemic ApoE-Deficient Mice.
Int J Mol Sci
December 2024
Department of Medical Cell Biology, Institute for Anatomy and Cell Biology, Medical Faculty, Philipps-University of Marburg, Robert-Koch-Str. 8, 35037 Marburg, Germany.
A possible involvement of immune- and vasoregulatory PACAP signaling at the PAC1 receptor in atherogenesis and plaque-associated vascular inflammation has been suggested. Therefore, we tested the PAC1 receptor agonist Maxadilan and the PAC1 selective antagonist M65 on plaque development and lumen stenosis in the ApoE atherosclerosis model for possible effects on atherogenesis. Adult male ApoE mice were fed a cholesterol-enriched diet (CED) or standard chow (SC) treated with Maxadilan, M65 or Sham.
View Article and Find Full Text PDFIdentifying Risk Factors for Lower Extremity Artery Disease (LEAD) in Cardiology Patients: The Role of Ankle-Brachial Index Measurement.
J Clin Med
December 2024
Department of Cardiology and Internal Medicine with Cardiac Intensive Care Unit, Medical University of Białystok, ul. M. Skłodowskiej-Curie 24A, 15-276 Białystok, Poland.
Lower Extremity Artery Disease (LEAD) is a predictor of atherosclerotic plaques in other locations and significantly increases the risk of death from cardiovascular events. This study aimed to identify cardiology patient subpopulations that should undergo Ankle-Brachial Index (ABI) measurement. A total of 800 patients hospitalized in the Department of Cardiology were included.
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