Clinical Implications of the Molecular Basis of Familial Hypercholesterolemia and Other Inherited Dyslipidemias

Clinical implications of the molecular basis of familial hypercholesterolemia and other inherited dyslipidemias.

In this issue of Circulation, van der Graaf and colleagues1 studied 1430 children, aged 4 to 18 years, who were referred to an academic pediatric lipid clinic in the Netherlands because of dyslipidemia from July 1989 to January 2008. The objective was to determine what proportion of those with the phenotype of autosomal dominant hypercholesterolemia (ADH) had mutations in the genes encoding the...

Molecular Diagnosis of Familial Hypercholesterolemia

Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...

The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias.

OBJECTIVE Achilles tendon (AT) xanthomas, specific for familial hypercholesterolemia (FH), may be clinically undetectable. We assessed the usefulness of AT sonography in the diagnosis of FH. METHODS AND RESULTS Sonographic AT characteristics were evaluated in 127 subjects with FH (81 genetically ascertained), 84 familial combined hyperlipidemia, 79 polygenic hypercholesterolemia, and 88 normo...

molecular diagnosis of familial hypercholesterolemia

construction and validation of the translation teacher competency test and the scale of students’ perceptions of translation teachers

the major purpose of this study was to develop the translation teacher competency test (ttct) and examine its construct and predictive validity. the present study was conducted in two phases: a qualitative phase as well as a quantitative phase. in the first phase of the study, the author attempted to find out the major areas of competency required for an academic translation teacher. the second...