[The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].

Objective: To investigate the clinical phenotypes of familial hypercholesterolemia (FH) caused by exon 13 A606T mutation in low density lipoprotein receptor.

Methods: Clinical data of the suffered family were collected and analyzed, as well as measurement of perivascular intima-medial thickness and follow-mediated-dilation function by ultrasonography.

Results: There were totally 11 sufferers including 4 males and 9 females, aged 8-90 years, with 2 homozygotes and 9 heterozygotes.

Cost-effectiveness analysis of neonatal hearing screening program in China: should universal screening be prioritized?

Background: Neonatal hearing screening (NHS) has been routinely offered as a vital component of early childhood care in developed countries, whereas such a screening program is still at the pilot or preliminary stage as regards its nationwide implementation in developing countries. To provide significant evidence for health policy making in China, this study aims to determine the cost-effectiveness of NHS program implementation in case of eight provinces of China.

Methods: A cost-effectiveness model was conducted and all neonates annually born from 2007 to 2009 in eight provinces of China were simulated in this model.

[Analysis on gene mutations in a Chinese pedigree with autosomal dominant inheritance cataract].

Objective: The aim of this study was to reveal the genetic defect of the autosomal dominant inheritance cataract in a Chinese pedigree.

Methods: Case-control study. There were 26 individuals investigated with clinical examination in a Chinese four generations pedigree.

[Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].

Objective: To screen the mutations of the low density lipoprotein receptor (LDLR) gene in a familial hypercholesterolemia (FH) family, and analyze the LDL-uptaking function of LDLR on lymphocytes of patients.

Methods: Genomic DNA was extracted from four affected members in a Chinese FH family. The presence of apoB100 gene R3500Q mutation which results in familial defective apolipoprotein B100 (FDB) was excluded first.