Results 21 to 30 of about 299,280 (207)

PCSK9 Antibodies Treatment Specifically Enhances the Macrophage-specific Reverse Cholesterol Transport Pathway in Heterozygous Familial Hypercholesterolemia [PDF]

JACC: Basic to Translational Science
Summary: We investigated the potential of proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies to restore macrophage cholesterol efflux in subjects with heterozygous familial hypercholesterolemia (FH) and to enhance the macrophage-specific ...
Carla Borràs, MSc, Marina Canyelles, PhD, Josefa Girona, PhD, Daiana Ibarretxe, MD, PhD, David Santos, BS, Giovanna Revilla, PhD, Vicenta Llorente-Cortes, PhD, Noemí Rotllan, PhD, Petri T. Kovanen, MD, PhD, Matti Jauhiainen, PhD, Miriam Lee-Rueckert, PhD, Luis Masana, MD, PhD, Francisco Arrieta, MD, PhD, Javier Martínez-Botas, PhD, Diego Gómez-Coronado, PhD, Josep Ribalta, PhD, Mireia Tondo, PhD, Francisco Blanco-Vaca, MD, PhD, Joan Carles Escolà-Gil, PhD   +18 more
doaj   +2 more sources

Apolipoprotein A-I Kinetics in Heterozygous Familial Hypercholesterolemia: A Stable Isotope Study

Journal of Lipid Research, 1999
Heterozygous familial hypercholesterolemia (FH) is associated with a moderate decrease of plasma apoA-I and HDL-cholesterol levels. The aim of the study was to test the hypothesis that these abnormalities were related to an increase of HDL-apoA-I ...
C Maugeais, K Ouguerram, Thierry Magot
exaly   +3 more sources

The genetics of familial hypercholesterolemia and emerging therapies

The Application of Clinical Genetics, 2015
Anja Vogt Medizinische Klinik und Poliklinik IV, Klinikum der Unversität München, Munich, Germany Abstract: Familial hypercholesterolemia (FH) results in very high levels of atherogenic low-density lipoprotein (LDL) cholesterol from the time ...
Vogt A
doaj   +1 more source

Marked Multiple Tendinitis at the Onset of Rheumatoid Arthritis in a Patient with Heterozygous Familial Hypercholesterolemia: Ultrasonographic Observation [PDF]

Case Reports in Rheumatology, 2014
A 59-year-old woman who had been diagnosed with heterozygous familial hypercholesterolemia developed rheumatoid arthritis (RA). She presented with marked tendinitis of the Achilles tendons, patellar tendons, and finger extensor tendons at the onset of RA.
Takeshi Suzuki, Akiko Okamoto
doaj   +2 more sources

How Can We Identify Very High-Risk Heterozygous Familial Hypercholesterolemia? [PDF]

Journal of Atherosclerosis and Thrombosis, 2022
Yu Kataoka, Sayaka Funabashi, Mariko Harada-Shiba   +2 more
exaly   +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

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

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

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