Results 41 to 50 of about 224,441 (293)

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing:a population-based study [PDF]

, 2014
BACKGROUND: Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK.
Soutar, Anne K., Shona M Kerr, Jennifer Biggs, Anne K Soutar, Aitman, Timothy J., Porteous, David J, Morris, Andrew D., Morris, Andrew D, Scotland, Generation, Blair H Smith, Generation Scotland, Smith, Blair H, Anna F Dominiczak, Thomas, Ellen, Soutar, Anne K, Vandrovcova, Jana, Kerr, Shona M, Kerr, Shona M., Archie Campbell, Biggs, Jennifer, Norsworthy, Penny J, David J Porteous, Laurence Game, Thomas, Ellen R. A., Game, Laurence, Penny J Norsworthy, Smith, Blair H., Norsworthy, Penny J., Campbell, Archie, Porteous, David J., Aitman, Timothy J, Ellen RA Thomas, Dominiczak, Anna F, Smith, Blair H.; id_orcid, Jana Vandrovcova, ?, ?, Dominiczak, Anna F., Thomas, Ellen RA, Timothy J Aitman, Andrew D Morris   +39 more
core   +2 more sources

Real‐World Effectiveness of PCSK9 Inhibitors in Reducing LDL‐C in Patients With Familial Hypercholesterolemia in Italy: A Retrospective Cohort Study Based on the AIFA Monitoring Registries

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Information on the real‐world use of proprotein convertase subtilisin kexin 9 inhibitors (PCKS9is) in familial hypercholesterolemia are limited.
Marcello Arca, Simone Celant, Pier Paolo Olimpieri, Antonietta Colatrella, Luca Tomassini, Laura D'Erasmo, Maurizio Averna, Alberto Zambon, Alberico Luigi Catapano, Pierluigi Russo   +9 more
doaj   +1 more source

Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia? [PDF]

, 2015
A previous report suggested that 88% of individuals in the general population with total cholesterol (TC) > 9.3 mmol/L have familial hypercholesterolaemia (FH). We tested this hypothesis in a cohort of 4896 UK civil servants, mean (SD) age 44 (±6) years,
Humphries, S.E., Kivimaki, M, Boustred, C, Boustred, C., Kumari, M., Kivimaki, M., Humphries, SE, Futema, M., Futema, M, Kumari, M   +9 more
core   +1 more source

Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia

Российский кардиологический журнал, 2023
Aim. To assess the detection rate of familial hypercholesterolemia among outpa­tients visiting a lipidologist.Material and methods. We analyzed the causes and nature of lipid metabolism disorders in patients of the Adult Lipidology Center as follows ...
Z. F. Kim, A. S. Galyavich, D. I. Sadykova, L. M. Nurieva   +3 more
doaj   +1 more source

Beyond Nature's Blueprint: Macrocyclic Peptides Containing Unnatural Amino Acids in Therapeutic Development

Angewandte Chemie, EarlyView.
Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma, Komal Sharma, Anku Sharma, Kamya Rao, Rahul Jain, Brett VanVeller   +5 more
wiley   +2 more sources

The economic impact of hypercholesterolemia and mixed dyslipidemia: A systematic review of cost of illness studies.

PLoS ONE, 2021
Hypercholesterolemia is a clinically relevant condition with an ascertained role in atherogenesis. In particular, its presence directly correlates to the risk of atherosclerotic cardiovascular disease (ASCVD).
Pietro Ferrara, Danilo Di Laura, Paolo A Cortesi, Lorenzo G Mantovani   +3 more
doaj   +1 more source

Familial hypercholesterolemia: Clarifications [PDF]

Cleveland Clinic Journal of Medicine, 2020
To the Editor : The article by Shah and colleagues[1][1] is an excellent review of familial hypercholesterolemia (FH) and highlights an underdiagnosed condition on which clinicians can make a significant impact.
openaire   +2 more sources

Molecular genetic diagnosis of a heterozygous form of familial hypercholesterolemia at a young age: a clinical case

Атеросклероз, 2022
Patients with familial hypercholesterolemia should be monitored throughout life, starting at an early age, since high levels of low-density lipoprotein cholesterol from birth and its cumulative effect play a significant role in the early development of ...
Olga V. Timoshchenko, Dinara E. Ivanoshchuk, Sergey E. Semaev, Lyudmila D. Latyntseva, Elena V. Shakhtshneider   +4 more
doaj   +1 more source

Patient with homozygous familial hypercholesterolemia: difficult to treat. Case report

, 2020
Homozygous familial hypercholesterolemia is a severe genetic disorder characterized by extremely high levels of total cholesterol and low-density lipoprotein cholesterol (LDL-C), as well as by rapid atherosclerosis progression in various vascular ...
Andrey V. Susekov, Irina V. Leontieva, Balakhonova T.V., Vladislav M. Soloviev, Irina M. Miklashevich, Yuliia S. Isaeva   +5 more
core   +1 more source

A Scoping Review of Electronic Health Records–Based Screening Algorithms for Familial Hypercholesterolemia [PDF]

BackgroundFamilial hypercholesterolemia (FH) is a common genetic disorder that is strongly associated with premature cardiovascular disease. Effective diagnosis and appropriate treatment of FH can reduce cardiovascular disease risk; however, FH is ...
Khoury, Muin J., Otchere, Baffour, Osei, Jeffery, Coronado, Fatima, Akyea, Ralph K., Bonful, Gracelove, Razavi, Alexander C., Akoto, Natalie, Kolor, Katherine, Mensah, George A., Sperling, Laurence, Moonesinghe, Ramal, Qureshi, Nadeem   +12 more
core   +1 more source