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Familial Hypercholestrolemia

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https://www.readbyqxmd.com/read/24396277/genetics-of-the-first-seven-proprotein-convertase-enzymes-in-health-and-disease
#1
Hannu Turpeinen, Zsuzsanna Ortutay, Marko Pesu
Members of the substilisin/kexin like proprotein convertase (PCSK) protease family cleave and convert immature pro-proteins into their biologically active forms. By cleaving for example prohormones, cytokines and cell membrane proteins, PCSKs participate in maintaining the homeostasis in a healthy human body. Conversely, erratic enzymatic function is thought to contribute to the pathogenesis of a wide variety of diseases, including obesity and hypercholestrolemia. The first characterized seven PCSK enzymes (PCSK1-2, FURIN, PCSK4-7) process their substrates at a motif made up of paired basic amino acid residues...
November 2013: Current Genomics
https://www.readbyqxmd.com/read/18173072/-investigation-of-herpes-group-and-hepatitis-a-virus-nucleic-acids-in-the-atherome-plaque-samples-of-patients-with-coronary-arterial-disease
#2
Belgin Altun, Seyyal Rota, Metin Demircin, Adem Reşatoğlu, Ali Yener, Gülendam Bozdayi
It is assumed that various infectious agents play direct or indirect roles in the pathogenesis of atherosclerosis which is accepted as a chronic inflammatory phenomenon. However, the data obtained from different studies are contradictory. The aim of this study was to investigate the roles of herpes virus group [Herpes simplex virus (HSV), Epstein-Barr virus (EBV), Cytomegalovirus (CMV)] and hepatitis A virus (HAV) which are debated in terms of their impact in the pathogenesis of coronary arterial diseases. For this purpose, atherome plaque samples collected from 28 patients (23 were male; age range: 43-74 years) with atherosclerotic heart disease and vein samples from 22 control patients (19 were male; age range: 37-85 years) who had vascular diseases other than atherosclerosis, were investigated by means of the presence of nucleic acids of the above mentioned viruses by real-time polymerase chain reaction (PCR)...
October 2007: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/16522931/phytosterols-stanols-lower-cholesterol-concentrations-in-familial-hypercholesterolemic-subjects-a-systematic-review-with-meta-analysis
#3
REVIEW
Kgomotso G Moruisi, Welma Oosthuizen, Anna M Opperman
BACKGROUND: To-date, reviews regarding the cholesterol lowering capacity of phytosterols/stanols have focused on normo- and hypercholesterolemic (HC) subjects. Familial hypercholestrolemia (FH) is characterized by very high low-density lipoprotein cholesterol (LDL-C) concentrations and is considered a world public health problem due to the high incidence of premature coronary heart disease (CHD) in these patients. OBJECTIVE: To conduct a systematic review that investigates the efficacy of phytosterols/stanols in lowering total cholesterol (TC) and LDL-C concentrations in FH subjects...
February 2006: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/15140588/the-inhibitory-effects-of-silso-san-gami-on-atherosclerosis-in-khc-rabbits
#4
COMPARATIVE STUDY
Won-Hwan Park, Sang-Seub Shin, Young-Choon Lee, Cheorl-Ho Kim
Silsosangami is a dried decoction of a mixture of seven Korean herbal medicines, consisting of Typhae pollen, Pteropi faeces, Paeoniae radicis rubra, Cnidii rhizoma, Persicae semen, Carthami flos, and Curcumae tuber. The inhibitory effect of this traditional herbal medicine, Silsosangami-water extract (SSG), on the progression of the atherosclerotic diseases was examined using the spontaneous familial hypercholesterolemia (FH) model, Kurosawa and Kusanagi-hypercholesterolemic (KHC) rabbits. Changes in blood chemistry, pathology and low-density lipoprotein (LDL) oxidation were measured in a control group and a SSG-administrated group...
2004: Thrombosis Research
https://www.readbyqxmd.com/read/10819851/unstable-angina-during-pregnancy-in-two-patients-with-premature-coronary-atherosclerosis-and-aortic-stenosis-in-association-with-familial-hypercholesterolemia
#5
A B Hameed, P P Tummala, T M Goodwin, I Nuno, O R Wani, I S Karaalp, U Elkayam
Obstructive atherosclerotic coronary artery disease is uncommon in women during childbearing age, and the occurrence of myocardial ischemia during pregnancy has therefore been anecdotal. Two young patients with premature coronary artery disease in association with familial hypercholestrolemia had unstable angina in the second trimester of pregnancy. Workup revealed coronary artery disease and aortic stenosis. One patient opted for abortion at the twentieth week of gestation, and the other decided to continue pregnancy and was delivered by cesarean at 28 weeks' gestation...
May 2000: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/10638225/-ldl-apheresis-clinical-indication-and-utility
#6
REVIEW
T Nakamura, K Ishikawa
LDL-apheresis is now sprended as a special technique for reducing serum cholesterol in drug-resistant patients with severe hypercholestrolemia. It's indication should be limited to homozygous familial hypercholesterolemia (FH) and lipid-uncontrollable heterozygous FH cases with coronary artery disease. Long-term effectiveness of LDL-apheresis on coronary events and lesions was established. This method may be useful to prevent graft vessel disease in patients with heart transplantation in the future. The clinical efficacy of this method may be induced not only by the removal of large amount of cholesterol but also by the resistance of LDL-oxidation or the improvement of endothelium-dependent vasodilatation...
December 1999: Nihon Rinsho. Japanese Journal of Clinical Medicine
https://www.readbyqxmd.com/read/9567258/-familial-hypercholesterolemia-molecular-identification-and-characterization-of-the-first-compound-homozygote-in-spain
#7
F J Chaves, J T Real, O Puig, J F Ascaso, J L Teruel, M A Lasunción, R Carmena, M E Armengod
Homozygous familial hypercholestrolemia (FH) is a rare genetic disorder (one in 1 million persons) due to two different mutations in the LDL receptor gene (compound homozygous) or, rarely, to the presence of the same mutation in the two aleles. In these patients the absence of a functional LDL receptor produces extreme elevations of plasma cholesterol levels that need an aggressive and expensive treatment with LDL apheresis or hepatic transplantation. The clinical evolution is poor with early coronary heart disease...
March 7, 1998: Medicina Clínica
https://www.readbyqxmd.com/read/9476817/comparison-of-cardiovascular-risk-profile-between-male-employees-of-two-automotives-companies-in-france-and-sweden-the-coeur-project-group
#8
COMPARATIVE STUDY
A Simon, L Dimberg, J Levenson, C Lanoiselée, M Massonneau, B Eriksson, S Jern, L Kumlin, P Marin, B Dahlöf, L Hansson, P Björntorp
To determine whether or not the lower rate of coronary disease in France, in comparison with Sweden, might be explained by different cardiovascular risk profiles, a cross-sectional analysis (first step of a longitudinal study) of comparable samples of automotive workers was carried out in corporate occupational health clinics of Renault and Volvo. Traditional cardiovascular risk factors were evaluated and the Framingham coronary risk was estimated for 1000 randomly selected 45-50 years old Caucasian males from each company...
December 1997: European Journal of Epidemiology
https://www.readbyqxmd.com/read/6827983/normocholesterolemic-tendon-xanthomatosis-with-overproduction-of-apolipoprotein-b
#9
G L Vega, D R Illingworth, S M Grundy, F T Lindgren, W E Connor
This report describes a 46-yr-old man with normocholesterolemic tendon xanthomatosis. He had severe bilateral xanthomas of Achilles tendons and small lesions on patellar tendons; biopsy of the latter revealed a fibroxanthoma of high cholesterol content. He did not have clinical evidence of atherosclerotic disease. The patient's total cholesterol (TC) and triglycerides (TG) were 245 and 258 mg/dl, respectively. LDL-TC was 168 mg/dl and HDL-TC was 32 mg/dl. VLDL consisted mainly of small particles (SfO 20-100) which were unusually rich in apolipoproteins B and E (and low in apo Cs)...
February 1983: Metabolism: Clinical and Experimental
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