Background: Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups.

Background:Obesity, physical inactivity and reduced physical fitness may contribute to the rising burden of chronic diseases in China. We investigated these factors in China over a 14-year period using data from the randomized national surveys in 2000, 2005, 2010 and 2014. Methods:We conducted four national surveys among 151,656, 163,386, 154,931and 146,703 Chinese adults aged 20-59 in 2000, 2005, 2010 and 2014, respectively. Body mass index (BMI, kg/m 2 ) was used to evaluate underweight (BMI<18·5), overweight (BMI 23·0-27·5) and obesity (BMI≥27·5). Central obesity was defined as waist circumference >90 cm in men and >85 cm in women. Leisure-time physical activity (LTPA) was evaluated by whether or not the participants had completed the recommended minimum 150-min moderate or 75-min vigorous exercise per week. Indices for assessing physical fitness included forced vital capacity, resting heart rate, handgrip strength, sit and reach, and standing on one leg. Findings:The prevalence of obesity increased from 8·6% in 2000, 10·3% in 2005, and 12·2% in 2010 to 12·9% in 2014 (0·32% per year). Comparable estimates were 37·4%, 39·2%, 40·7% and 41·2% for overweight and 13·9%, 18·3%, 22·1% and 24·9% for central obesity. The corresponding upward trends per year were 0·27% and 0·78%, respectively. The prevalence of overweight, obesity and central obesity increased with age and was higher in men than women.. A simultaneous decrease was observed in the prevalence of underweight (5·4% in 2000 versus 4·6% in 2014, a downward trend of 0·06% per year). More participants met the minimum LTPA recommendation (17·2% in 2000 versus 22·8% in 2014), with the prevalence change per year being 0·33%, 0·50%, 0·37%, 0·06% for underweight, normal-weight, overweight, and obesity, respectively. Physical fitness deterioration was observed for all measures examined except resting heart rate. Interpretation:Despite increased participation in LTPA, we observed an upward trend in overweight/obesity and a decline in physical fitness in Chinese adults. Continued nationwide interventions are needed for promoting physical activity and other healthy lifestyles in China. Funding:National Physical Fitness Surveillance Center, Ministry of Science and Technology of the People's Republic of China. Introduction In recent decades, China has witnessed a rapid rise in the burden of noncommunicable diseases (NCDs). Despite differences in sampling methods and 3 diagnostic criteria, the estimated prevalence grew from 9.7% to 11.6% for type 2 diabetes, and from 15.5% to 50.1% for pre-diabetes between 2008 and 2010. 1 These diseases accounted for an estimated 80% of deaths and 70% of total disease burden in China. 2 While aging of the population is an important contributing factor, such health consequences are also likely attributed to the drastic changes in lifestyles following China's economic boom that result in obesity and physical inactivity. 3 These two factors, despite their strong correlation, have been independently linked to increased risk of ...

Purpose: Mutations in the GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment in populations studied to date. However, the prevalence of mutations varies among different ethnic groups. In most areas of China, genetic testing for nonsyndromic hearing impairment is currently not available because of the lack of information regarding the molecular cause of nonsyndromic hearing impairment.The purpose of this study is to determine the prevalence of a common GJB2 mutation, 235delC, in Chinese deaf children. Methods: We collected DNA specimens from 3004 patients with nonsyndromic hearing impairment from 26 regions of China; 368 Han Chinese and 98 Uigur controls, and screened for the 235delC mutation. The coding exon of the GJB2 gene was polymerase chain reaction amplified, followed by restriction enzyme digestion with ApaI and analysis by agarose gel. Results: Overall, 488 patients (16.3%) were determined to carry at least one 235delC mutant allele, with 233 (7.8%) homozygotes and 255 (8.5%) heterozygotes. Therefore, within the subpopulations examined, the frequency varies from 0% to 14.7% for 235delC homozygotes and from 1.7% to 16.1% for heterozygotes. On the basis of this survey of the patient cohort as stated, Chinese patients with nonsyndromic hearing impairment appear to have a relatively higher 235delC frequency than that of other Asian populations.Conclusion: These results demonstrate that an easy and fast genetic testing method for this well-known GJB2 gene mutation can be made available for at least 2 million Chinese patients and family members with nonsyndromic hearing impairment. By screening for the common GJB2 235delC mutation, the molecular cause in as high as 15% of patients with nonsyndromic hearing impairment in certain regions of China can be identified. In addition, patients who are negative for the 235delC mutation would be candidates for further mutational analysis of GJB2 or other deafness-related genes. Genet Med 2007:9(5):283-289.

Purpose: Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently identifiable genetic cause of sensorineural hearing loss. In most areas of China, genetic testing for sensorineural hearing loss is unavailable because of limited knowledge of the mutation spectrum. Although SLC26A4 c.919-2AϾG (IVS7-2AϾG) is a common mutation among some Asian populations, the mutation prevalence among various ethnic groups within China has not been studied. Methods: DNA specimens from 3271 subjects with moderate to profound sensorineural hearing loss from 27 regions of China were genotyped for the c.919-2AϾG mutation by polymerase chain reaction/restriction-fragment-length polymorphism. Normal hearing controls from Han (n ϭ 185) and Uigur (n ϭ 152) populations were also tested. Results: Overall, 408 subjects with sensorineural hearing loss (12.5%) carried at least one c.919-2AϾG allele, with 158 (4.8%) homozygotes and 250 (7.6%) heterozygotes. Within the subpopulations examined, the rate varies from 0% to 12.2% for c.919-2AϾG homozygotes and from 0% to 17.6% for heterozygotes. Based on this cohort, Chinese subjects with sensorineural hearing loss seem to have a relatively

In this sample of rural Chinese adolescents, 25(OH)D level was influenced by gender, season, and physical activity level. There was a strong genetic influence on 25(OH)D level in males only.

Mutations of the human SLC26A4/PDS gene constitute the most common cause of syndromic and nonsyndromic hearing loss. Definition of the SLC26A4 mutation spectrum among different populations with sensorineural hearing loss is important for development of optimal genetic screening services for congenital hearing impairment. We screened for SLC26A4 mutations among Chinese and U.S. subjects with hearing loss, using denaturing HPLC (DHPLC) and direct DNA sequencing. Fifty-two of 55 Chinese subjects with deafness accompanied by enlargement of the vestibular aqueduct (EVA) exhibited at least one mutant SLC26A4 allele, whereas SLC26A4 mutations were found in only 2 of 116 deaf Chinese patients without EVA. The spectrum of SLC26A4 mutations differed among Chinese and U.S. subjects and included 10 previously unreported SLC26A4 variants: 4 in the Chinese population (p.E303Q, p.X329, p.X467, p.X573) and 6 in the U.S. population (p.V250A, p.D266N, p.F354S, p.D697A, p.K715N, p.E737D). Among the seven novel in-frame missense mutations, five encoded SLC26A4 proteins with substantially reduced Cl(-)/anion exchange activity as expressed and measured in Xenopus oocytes, but four of these were sufficiently active to allow study of anion selectivity. The only mutant polypeptide exhibiting complete loss of anion exchange function, p.E303Q, was expressed at or near the oocyte surface at near-wild-type levels. Two variants, p.F354S and p.E737D, displayed selective reduction in relative rate of Cl(-)/HCO(3)(-) exchange compared with similarly measured rates of Cl(-)/Cl(-) and Cl(-)/I(-) exchange. Our data show that mutation analysis of the SLC26A4 gene is of high diagnostic yield among subjects with deafness and bilateral EVA in both China and the U.S. However, the pathogenicity of monoallelic SLC26A4 gene variants in patients with hearing loss remains unclear in many instances.

The findings can help planners build more pedestrian-friendly communities. They are also useful for creating interventions that are sensitive to possible environmental barriers to physical activity in older adults.

Abstract:To investigate the association between endometriosis, tubal ligation, hysterectomy and epithelial ovarian cancer. Relevant published literatures were searched in PubMed, ProQuest, Web of Science and Medline databases during 1995-2016. Heterogeneity was evaluated by I 2 statistic. Publication bias was tested by funnel plot and Egger's test. Odds ratio and 95% CI were used to assess the association strength. The statistical analyses in this study were accomplished by STATA software package. A total of 40,609 cases of epithelial ovarian cancer and 368,452 controls in 38 publications were included. The result suggested that endometriosis was associated with an increased risk of epithelial ovarian cancer (OR = 1.42, 95% CI = 1.28-1.57), tubal ligation was associated with a decreased risk of epithelial ovarian cancer (OR = 0.70, 95% CI = 0.60-0.81), while hysterectomy show no relationship with epithelial ovarian cancer (OR = 0.97, 95% CI = 0.81-1.14). A stratified analysis showed there were associations between endometriosis and the increased risk of epithelial ovarian cancer for studies conducted in USA and Europe. Meanwhile, there were associations between tubal ligation and the decreased risk of epithelial ovarian cancer for studies conducted in USA, Asia, Europe and Australia. The result indicated that endometriosis was a risk factor of epithelial ovarian cancer whereas tubal ligation was a protective risk factor of epithelial ovarian cancer, hysterectomy may have no relationship with epithelial ovarian cancer.