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. The model parameters were estimated from the established databases in the general hospitals or maternal and child health hospitals of these eight provinces, supplemented from the published literature. The model estimated changes in program implementation costs, disability-adjusted life years (DALYs), average cost-effectiveness ratio (ACER), and incremental cost-effectiveness ratio (ICER) for universal screening compared to targeted screening in eight provinces. RESULTS AND DISCUSSION: A multivariate sensitivity analysis was performed to determine uncertainty in health effect estimates and cost-effectiveness ratios using a probabilistic modeling technique. Targeted strategy trended to be cost-effective in Guangxi, Jiangxi, Henan, Guangdong, Zhejiang, Hebei, Shandong, and Beijing from the level of 9%, 9%, 8%, 4%, 3%, 7%, 5%, and 2%, respectively; while universal strategy trended to be cost-effective in those provinces from the level of 70%, 70%, 48%, 10%, 8%, 28%, 15%, 4%, respectively. This study showed although there was a huge disparity in the implementation of the NHS program in the surveyed provinces, both universal strategy and targeted strategy showed cost-effectiveness in those relatively developed provinces, while neither of the screening strategy showed cost-effectiveness in those relatively developing provinces. This study also showed that both strategies especially universal strategy achieve a good economic effect in the long term costs. CONCLUSIONS: Universal screening might be considered as the prioritized implementation goal especially in those relatively developed provinces of China as it provides the best health and economic effects, while targeted screening might be temporarily more realistic than universal screening in those relatively developing provinces of China.

[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. Among them, one homozygote showed angina pectoris and hematuria, both homozygotes had skin xanthomata. TC, TG, LDL-C and HDL-C were (7.39 ± 1.30) mmol/L, (0.93 ± 0.36) mmol/L, (11.76 ± 1.10) mmol/L and (1.22 ± 0.17) mmol/L, respectively. The left/right sided intima-medial thickness of the common, internal, external and bulb carotid artery were (1.15 ± 0.45) mm/(1.30 ± 0.60) mm, (0.82 ± 0.30) mm/(1.00 ± 0.66) mm, (0.77 ± 0.28) mm/(0.78 ± 0.30) mm and (1.40 ± 0.59) mm/(1.46 ± 0.71) mm respectively. The brachial artery flow mediated dilation rate was (4.85 ± 4.80)%. Echocardiography revealed 2 patients with cardiac valvular disease and 3 with atrium septum aneurysm. CONCLUSION: FH patients show a variety of phenotypes including extraordinary hypercholesterolemia, subcutaneous xanthomata and premature coronary heart disease.

[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. The genome DNA of the individuals was extracted by the improved NaI method. The exons of six cataract candidate genes in 204 normal controls and 42 senile cataract patients were screened for the mutation by PCR restriction fragment length polymorphism (PCR-RFLP) methods. RESULTS: The phenotype of the cataract was pulverulent nuclear cataract. A novel C/T transition at nucleotide position 827 was identified in the GJA8 gene that led to a serine to phenylalanine change in codon 276. This mutation was not found in 42 senile cataract patients and in 204 controls. Four single nucleotide polymorphisms (SNPs) were also found in a cataract candidate gene in the family members. CONCLUSIONS: A novel GJA8 gene mutation was found in a Chinese autosomal dominant inheritance cataract pedigree. A substitution, C276T in GJA8 gene, was identified as the most likely causative mutation underlying the phenotype of pulverulent nuclear cataract in all affected family members.

[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. Fragments of the LDLR gene were amplified by touch-down polymerase chain reaction (Touch-down PCR) and analyzed by single-strand conformational polymorphism (SSCP). The suspect fragments of the LDLR gene were cloned and sequenced. Furthermore, the lymphocytes bounded with fluorescent-labeled LDL (DiI-LDL) were measured by fluorescence flow cytometry. RESULTS: A nonsense mutation was identified in exon 10 of LDLR gene. This mutation gave rise to a premature stop codon (W462X), resulting in the absence of most of the LDLR domains. It was detected in all the affected members of the FH family. The ratios of functional LDLR in lymphocytes from patients and normal controls were 63.7% and 77.3% respectively. As a result, the activity of the functional LDLR in patients was just 82.4% of that in the normal controls. CONCLUSION: It is possible that the W462X mutation of LDLR gene is the main cause for the disease in this family.