نتایج جستجو برای: familial hypercholesterolemia fh

تعداد نتایج: 68801  

Journal: :Circulation 2017
Leopoldo Pérez de Isla Rodrigo Alonso Nelva Mata Cristina Fernández-Pérez Ovidio Muñiz José Luis Díaz-Díaz Adriana Saltijeral Francisco Fuentes-Jiménez Raimundo de Andrés Daniel Zambón Mar Piedecausa José María Cepeda Marta Mauri Jesús Galiana Ángel Brea Juan Francisco Sanchez Muñoz-Torrero Teresa Padró Rosa Argueso José Pablo Miramontes-González Lina Badimón Raúl D Santos Gerald F Watts Pedro Mata

BACKGROUND Although risk factors for atherosclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described, models for predicting incident ASCVD have not been reported. Our aim was to use the SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study) to define key risk factors for predicting incident ASCVD in patients with FH. METHODS SAFEHEART ...

Journal: :European Heart Journal 2021

Abstract Background The 2017 Japan Atherosclerosis Society (JAS) familial hypercholesterolemia (FH) criteria adopts a cut off value of ≥9 mm Achilles tendon thickness (ATT) detected by X-ray as one the three key items. This threshold was determined based on an old data assessing ATT 36 non-FH individuals published in 1977. Although specificity this clinical is extremely high due to strict thres...

Journal: :American journal of physiology. Regulatory, integrative and comparative physiology 2011
Kyle S McCommis Allison M McGee M Harold Laughlin Douglas K Bowles Christopher P Baines

Hypercholesterolemia has been suggested to have direct negative effects on myocardial function due to increased reactive oxygen species (ROS) generation and increased myocyte death. Mitochondrial permeability transition (MPT) is a significant mediator of cell death, which is enhanced by ROS generation and attenuated by exercise training. The purpose of this study was to investigate the effect o...

Journal: :Journal of the American College of Cardiology 2016
Leopoldo Perez de Isla Rodrigo Alonso Gerald F Watts Nelva Mata Adriana Saltijeral Cerezo Ovidio Muñiz Francisco Fuentes José Luís Diaz-Diaz Raimundo de Andrés Daniel Zambón Patricia Rubio-Marin Miguel A Barba-Romero Pedro Saenz Juan F Sanchez Muñoz-Torrero Ceferino Martinez-Faedo José P Miramontes-Gonzalez Lina Badimón Pedro Mata

BACKGROUND Familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data on attainment of treatment targets; large registries that reflect real-life clinical practice can uniquely provide this information. OBJECTIVES We sought to evaluate the achievement of low-density lipoprotein choleste...

Journal: :Journal of clinical lipidology 2011
Anne C Goldberg Paul N Hopkins Peter P Toth Christie M Ballantyne Daniel J Rader Jennifer G Robinson Stephen R Daniels Samuel S Gidding Sarah D de Ferranti Matthew K Ito Mary P McGowan Patrick M Moriarty William C Cromwell Joyce L Ross Paul E Ziajka

The familial hypercholesterolemias (FH) are a group of genetic defects resulting in severe elevations of blood cholesterol levels and increased risk of premature coronary heart disease. FH is among the most commonly occurring congenital metabolic disorders. FH is a treatable disease. Aggressive lipid lowering is necessary to achieve the target LDL cholesterol reduction of at least 50% or more. ...

Journal: :Arteriosclerosis, thrombosis, and vascular biology 2006
Kirsten B Holven Jan K Damås Arne Yndestad Torgun Waehre Thor Ueland Bente Halvorsen Lars Heggelund Wiggo J Sandberg Anne G Semb Stig S Frøland Leiv Ose Marit S Nenseter Pål Aukrust

OBJECTIVE Increasing data support the involvement of chemokines in atherogenesis. However, although several studies have shown increased chemokine levels in adult patients, the literature is virtually devoid of data on chemokines in children with hypercholesterolemia. METHODS AND RESULTS We examined the gene expression of chemokines in peripheral blood mononuclear cells (PBMCs) from clinicall...

Journal: :Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 1999
F L Alberto M S Figueiredo M A Zago A G Araújo J E Dos-Santos

Familial hypercholesterolemia (FH) is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr) gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities ...

2017
Hiroshi Mabuchi

Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or o...

Journal: :Journal of atherosclerosis and thrombosis 2012
Vladimir Soska Petr Dobsak Ladislav Dusek Kohji Shirai Jiri Jarkovsky Marie Novakova Petr Brhel Jana Stastna Lenka Fajkusova Tomas Freiberger Tomoyuki Yambe

AIM The cardio-ankle vascular index (CAVI) is a new non-invasive marker of arterial stiffness and atherosclerosis. The purpose of this study was to compare CAVI in patients with heterozygous familial hypercholesterolemia (FH) and in healthy controls. METHODS 82 FH subjects (27 males, 65 females), aged 53.7±13.6 years without clinical symptoms of cardiovascular diseases and 359 healthy control...

2015
Ilse K. Luirink Barbara A. Hutten Albert Wiegman

Cardiovascular disease (CVD) is still the most prominent cause of death and morbidity in the world, and one of the major risk factors for developing CVD is hypercholesterolemia. Familial hypercholesterolemia (FH) is a dominantly inherited disorder characterized by markedly elevated plasma low-density lipoprotein cholesterol and premature coronary heart disease. Currently, several treatment opti...

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