Parental attitude towards genetic testing for familial hypercholesterolaemia in children
نویسندگان
چکیده
منابع مشابه
Parental attitude towards genetic testing for familial hypercholesterolaemia in children.
Nationwide screening for familial hypercholesterolaemia (FH), using family investigation and molecular testing, has been operative in The Netherlands since 1994. FH is a common inherited disorder of lipoprotein metabolism with a prevalence of 1 in 400 to 500 persons in western societies. Untreated, the disorder leads to hypercholesterolaemia, premature cardiovascular disease, and untimely death...
متن کاملGenetic Architecture of Familial Hypercholesterolaemia
PURPOSE OF REVIEW Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT FINDINGS Mutations in any of three genes (LDLR, APO...
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Objectives: To determine the role of child factors in the prediction of parental attitudes towards children and adolescents with CP in Iran. Methods: A cross-sectional study design was used. One hundred fifty-two children and adolescents with CP aged 7-17 years (mean = 10.93, SD = 3.46) with a mother aged at least 25 years were selected using systematic random sampling. The Mother-Child Relati...
متن کاملCost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK
Aims Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature mortality which can be substantially reduced by effective treatment. Patents have recently expired on high-intensity statins, reducing FH treatment costs. We build a model using UK data to estimate the cost effectiveness of DNA testing ...
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Familial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD). Although Portugal should have about 20,000 cases, this disease is severely under-diagnosed in our country, this being the first presentation of ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.9.e49