Results 21 to 30 of about 53,176 (324)

Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning

Вавиловский журнал генетики и селекции, 2023
One of the most common congenital metabolic disorders is familial hypercholesterolemia. Familial hyper-cholesterolemia is a condition caused by a type of genetic defect leading to a decreased rate of removal of low-density lipoproteins from the ...
D. E. Ivanoshchuk, A. B. Kolker, O. V. Timoshchenko, S. E. Semaev, E. V. Shakhtshneider   +4 more
doaj   +1 more source

New approaches in detection and treatment of familial hypercholesterolemia [PDF]

, 2015
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). Mutations
Hartgers, ML, Hovingh, GK, Ray, KK
core   +6 more sources

Hypercholesterolemia in children and adolescents: focus on the familial variant

Медицинский совет, 2021
Familial hypercholesterolemia is characterized by a significant increase in serum low-density lipoprotein cholesterol concentration, which even in the absence of other risk factors leads to the development of atherosclerotic vascular lesions beginning in
I. N. Zakharova, I. M. Osmanov, I. I. Pshenichnikova, T. M. Tvorogova, I. N. Kholodova, I. V. Berezhnaya, E. V. Skorobogatova, D. I. Kholodov, T. I. Bocharova, Yu. V. Koba   +9 more
doaj   +1 more source

Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data

The Lancet: Digital Health, 2019
Summary: Background: Cardiovascular outcomes for people with familial hypercholesterolaemia can be improved with diagnosis and medical management. However, 90% of individuals with familial hypercholesterolaemia remain undiagnosed in the USA. We aimed to
Kelly D Myers, BS, Joshua W Knowles, MD, David Staszak, PhD, Michael D Shapiro, DO, William Howard, PhD, Mrinal Yadava, MD, David Zuzick, MBA, Latoya Williamson, MS, Nigam H Shah, PhD, Juan M Banda, PhD, Joe Leader, BS, William C Cromwell, MD, Ed Trautman, PhD, Michael F Murray, ProfMD, Seth J Baum, MD, Seth Myers, PhD, Samuel S Gidding, MD, Katherine Wilemon, BS, Daniel J Rader, ProfMD   +18 more
doaj   +1 more source

Metabolism of low-density lipoproteins by cultured hepatocytes from normal and homozygous familial hypercholesterolemic subjects [PDF]

, 1986
The profoundly elevated concentrations of low-density lipoproteins (LDL) present in homozygous familial hypercholesterolemia lead to symptomatic cardiovascular disease and death by early adulthood.
Brewer, HB, Demosky, SJ, Edge, SB, Gregg, RE, Hoeg, JM, Starzl, TE, Triche, T   +6 more
core   +1 more source

Systematic review and network meta-analysis on the efficacy of evolocumab and other therapies for the management of lipid levels in hyperlipidemia [PDF]

, 2017
Background: The proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors evolocumab and alirocumab substantially reduce low‐density lipoprotein cholesterol (LDL‐C) when added to statin therapy in patients who need additional LDL‐C reduction ...
Bray, Sarah, Bridges, Ian, Cheng, Lung-I, Dent, Ricardo, Deshpande, Sohan, Forbes, Carol A., Gandra, Shravanthi R., Kleijnen, Jos, Ross, Janine, Sattar, Naveed, Stroes, Erik S.G., Toth, Peter P., Worth, Gavin M., Worthy, Gillian   +13 more
core   +1 more source

Treatment and follow-up of coronary artery disease in a child with homozygous familial hypercholesterolemia

Medicine Science, 2022
Familial hypercholesterolemia is a metabolic disease caused by a mutation in the low-density lipoprotein receptor gene. It carries early atherosclerosis and coronary artery disease risks.
Mehmet Oncul, Cemsit Karakurt, Ozlem Elkiran, Aysehan Akinci, Nevzat Erdil   +4 more
doaj   +1 more source

Evaluation of the Frequency of Familial Hypercholesterolemia: A Single-Center Experience

Endocrinology Research and Practice, 2019
Objective: Familial hypercholesterolemia is an autosomal dominant disease associated with elevated low-density lipoprotein cholesterol and increased premature atherosclerosis.
Mehmet Ali EREN, Ataman GÖNEL, İsmail KOYUNCU, Ahmet Cebeli GÖKAY, Tevfik SABUNCU   +4 more
doaj   +1 more source

Familial hypercholesterolemia: a systematic review of guidelines on genetic testing and patient management [PDF]

, 2017
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death.
Baccolini, Valentina, D'Andrea, Elvira, De Vito, Corrado, Massimi, Azzurra, Migliara, Giuseppe, Rosso, Annalisa, Villari, Paolo   +6 more
core   +2 more sources

Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part [PDF]

, 2018
Fifty per cent of first-degree relatives of index cases with familial hypercholesterolemia (FH) inherit the disorder. Despite cascade screening being the most cost-effective method for detecting new cases, only a minority of individuals with FH are ...
Brett, Tom, Gidding, Samuel, Qureshi, Nadeem, Watts, Gerald F   +3 more
core   +3 more sources