Results 31 to 40 of about 224,441 (293)

Familial hypercholesterolemia

Saudi Medical Journal, 2007
Familial homozygous hypercholesterolemia is a rare autosomal disorder characterized by high levels of cholesterol, extensive tendon xanthomatosis and premature development of atherosclerotic disease. Early coronary artery disease with myocardial infarctions and sudden deaths are common.
Parvaiz A, Koul, Rafi A, Jan, Abdul B, Wahid, Tariq A, Bhat, Syed M, Mudassir   +4 more
openaire   +4 more sources

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

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

Lipoprotein metabolism in familial hypercholesterolemia [PDF]

Journal of Lipid Research, 2021
Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to premature cardiovascular events.
Chemello, Kévin, García-Nafría, Javier, Gallo, Antonio, Martín, Cesar, Lambert, Gilles, Blom, Dirk   +5 more
openaire   +7 more sources

How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results?:A UK-based qualitative interview study [PDF]

, 2011
OBJECTIVE: To explore patients' interpretations of their DNA results for familial hypercholesterolemia (FH). METHODS: In-depth interviews were conducted with patients from two lipid clinics in Scotland, who were offered genetic testing as part of a ...
Jenkins, Nick, Lawton, Julia, Douglas, Margaret, Walker, Simon, Hallowell, Nina, Finnie, Robert, Porteous, Mary   +6 more
core   +1 more source

Phase Ib study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis

Hepatology, EarlyView., 2022
Phase 1b study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis. Abstract Background and Aims We evaluated the efficacy and safety of the antiangiogenic tyrosine kinase inhibitor anlotinib plus TQB2450, a programmed death‐ligand 1 inhibitor in pretreated advanced biliary tract cancers (BTCs ...
Jun Zhou, Yongkun Sun, Wen Zhang, Jiajia Yuan, Zhi Peng, Wei Wang, Jifang Gong, Lin Yang, Yanshuo Cao, Hong Zhao, Chao Chen, Weifeng Wang, Lin Shen, Aiping Zhou   +13 more
wiley   +1 more source

LDLR-Gene therapy for familial hypercholesterolaemia: Problems, progress, and perspectives [PDF]

, 2010
Coronary artery diseases (CAD) inflict a heavy economical and social burden on most populations and contribute significantly to their morbidity and mortality rates.
Charles Coutelle, Harbottle, R, Anna L David, Themis, M, Al-Allaf, FA, Waddington, SN, David, A, Faisal A Al-Allaf, Michael Themis, Coutelle, C, Simon N Waddington, Richard Harbottle   +11 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