Results 31 to 40 of about 30,028 (235)

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

Therapeutic Low-Density Lipoprotein Cholesterol-Lowering in a Patient With Familial Hyperlipidemia Refractory to PCSK9 Monoclonal Antibody (Evolocumab)

Annals of Internal Medicine: Clinical Cases, 2023
Patients with heterozygous familial hypercholesterolemia if untreated are at increased risk for atherosclerotic cardiovascular disease events by age 40 years.
Stephanie Skove, Viet T. Le, Jeffrey L. Anderson   +2 more
doaj   +1 more source

Cognitive function with evolocumab in pediatric heterozygous familial hypercholesterolemia.

Journal of Clinical Lipidology, 2022
BACKGROUND Evolocumab is a fully human monoclonal antibody inhibitor of PCSK9 approved for lowering low-density lipoprotein cholesterol in adults and pediatric patients with familial hypercholesterolemia (FH).
D. Gaudet, A. Ruzza, I. Bridges, P. Maruff, A. Schembri, A. Hamer, François Mach, J. Bergeron, Isabelle Gaudet, J. S. Pierre, J. Kastelein, G. Hovingh, A. Wiegman, F. Raal, R. Santos   +14 more
semanticscholar   +1 more source

Long-Term Safety and Efficacy of Bempedoic Acid in Patients With Atherosclerotic Cardiovascular Disease and/or Heterozygous Familial Hypercholesterolemia (from the CLEAR Harmony Open-Label Extension Study).

American Journal of Cardiology, 2022
`Limited data exist on the long-term safety and efficacy of bempedoic acid, an adenosine triphosphate-citrate lyase inhibitor, for lowering low-density lipoprotein cholesterol (LDL-C).
C. Ballantyne, M. Banach, H. Bays, A. Catapano, U. Laufs, Erik S. G. Stroes, P. Robinson, L. Lei, K. Ray   +8 more
semanticscholar   +1 more source

Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

Biomedicines, 2022
Familial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease.
Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli   +2 more
doaj   +1 more source

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia

Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 2021
Background Patients with familial hypercholesterolemia who harbored both low‐density lipoprotein receptor (LDLR) and PCSK9 (proprotein convertase subtilisin/kexin type 9) gene variants exhibit severe phenotype associated with substantially high levels of
T. Doi, M. Hori, M. Harada‐Shiba, Y. Kataoka, D. Onozuka, K. Nishimura, R. Nishikawa, K. Tsuda, M. Ogura, Cheol Son, Y. Miyamoto, T. Noguchi, H. Shimokawa, S. Yasuda   +13 more
semanticscholar   +1 more source

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

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

The panorama of familial hypercholesterolemia in Latin America: a systematic review[S]

Journal of Lipid Research, 2016
The burden caused by familial hypercholesterolemia (FH) varies among countries and ethnic groups. The prevalence and characteristics of FH in Latin American (LA) countries is largely unknown. We present a systematic review (following the PRISMA statement)
Roopa Mehta, Rafael Zubirán, Alexandro J. Martagón, Alejandra Vazquez-Cárdenas, Yayoi Segura-Kato, María Teresa Tusié-Luna, Carlos A. Aguilar-Salinas   +6 more
doaj   +1 more source

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   +1 more source