Influence of β0-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.
One of the genetic features of the Sardinian population is the high prevalence of hemoglobin disorders. It has been estimated that 13% to 33% of Sardinians carry a mutant allele of the alpha-globin gene (alpha-thalassemia trait) and that 6% to 17% are beta-thalassemia carriers. In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of beta-thalassemia cas...
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بر اساس نظریه افلاطون در باره شعر خلاقیت هنری مورد انتقاد قرار گرفته است. نظریه کلی در مورد شعر این بود که شعر از ظواهرتقلید میکند و نه حقیقت. چون سایه ای از حقیقت است. اما با پیدایش فلسفه نو افلاطونی، انتقاتات قبلی در مورد شعر و شاعری اصلاح شد. فلوطین در کتاب انئید، اساس خلق هنری را بر محور مُثل افلاطونی قرار داد. وی باور داشت که هنر مندان در خلق آثار هنری، تحت تاثیر مُثل افلاطونی بوده و عوالمی ...
Heterozygous Familial Hypercholesterolemia.
Familial hypercholesterolemia (FH) is a genetic condition that causes high low-density lipoprotein (LDL) cholesterol (sometimes referred to as bad cholesterol) from birth. FH means high cholesterol that runs in a family. FH is caused by specific DNA changes that are passed on from parents to their children. It is not caused by lifestyle factors such as a high-fat diet or lack of exercise. There...
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The biosynthesis of adrenal corticosteroids in humans depends on a continuous supply of cholesterol, which can be derived from both local synthesis and receptor-mediated uptake of low density lipoproteins (LDL) from plasma. Mevinolin, an inhibitor of 3-hydroxy-3-methylglutaryl-CoA reductase [mevalonate:NAD+ oxidoreductase (CoA-acylating), EC 1.1.1.88] is an effective hypolipidemic agent in pati...
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Familial hypercholesterolemia, a form of primary hyperlipoproteinemia, is an autosomal dominant disorder characterized by an increase in serum LDL cholesterol concentrations. Multiple types of xanthomas occur, such as tendinous, tuberous, subperiosteal, and xanthelasma. Intertriginous xanthomas are rare, but if present are pathognomonic in this disorder. We report a patient with multiple xantho...
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ژورنال
عنوان ژورنال: Arteriosclerosis, Thrombosis, and Vascular Biology
سال: 2000
ISSN: 1079-5642,1524-4636
DOI: 10.1161/01.atv.20.1.236