OBJECTIVE: To determine the frequencies of deafness gene mutations among patients with non-syndromic hearing loss (NSHL) from northern Jiangsu province. METHODS: A total of 117 patients with NSHL were enrolled. The coding region of GJB2 gene, IVS7-2A>G and 2168A>G mutations of SLC26A4 gene, and 1555A>G and 1494C>T mutations of mitochondrial DNA 12S rRNA were subjected to Sanger sequencing. Patients in whom no mutation was detected were further tested by targeted gene capture and high-throughput sequencing. RESULTS: Among the 117 patients, 86 (73.50%) were found to carry mutations. GJB2 gene mutations were found in 61 patients (52.14%), including 22 (18.80%) with homozygous mutations and 39 (33.33%) with heterozygous mutations. SLC26A4 gene mutations were found in 19 patients (16.24%), including 4 (3.42%) with homozygous mutations and 15 with heterozygous mutations (14.53%). Mitochondrial 12S rRNA gene mutation was found in 6 patients (5.13%). Targeted gene capture and high-throughput sequencing of 8 patients identified 4 further cases, including 1 with RDX gene 129_130del and 76_79del compound heterozygous mutations, 1 with OTOF gene 1274G>C homozygous mutation, 1 with SLC26A4 gene 919-2A>G and IVS16-6G>A compound heterozygous mutation, and 1 with SLC26A4 gene 919-2A>G and A1673T compound heterozygous mutation. CONCLUSION The frequency of mutation among patients with NSHL from north Jiangsu was 73.50%, and GJB2 gene was most commonly mutated.
China ; Connexins ; DNA Mutational Analysis ; DNA, Mitochondrial ; Hearing Loss ; genetics ; Humans ; Membrane Proteins ; Mutation ; Sulfate Transporters

Objective To investigate the risk factors and improvement measures of thrombosis in internal arteriovenous fistula in maintenance hemodialysis patients .Methods Case control studies were performed in this study . Totals of 100 maintenance hemodialysis patients with thrombosis in internal arteriovenous fistula from January 2009 to June 2015 in Lishui Central Hospital were included in observation group, while another 100 patients with maintenance hemodialysis who did not have thrombosis in internal arteriovenous fistula were involved as control group .The related clinical and nursing data were collected , and the correlation between the thrombosis in internal arteriovenous fistula and related factors were analyzed to improve targeted nursing .Results Prevalence of diabetes , puncture failure rate , hematoma occurrence rate , high intensity in site-directed oppression , tightly binding after hemodialysis rate , oppression time longer than 30 min after hemodialysis rate, ultrafiltration rate, hemoglobin, high-sensitivity C-reactive protein, fasting blood glucose, total cholesterol, low density lipoprotein cholesterol , calcium-phosphorus product and D-dimer in observation group were higher than those in control group .The differences were statistically significant ( P<0.05 ) .There were statistically significant differences in the systolic pressure and low molecular weight heparin usage between two groups (P<0.05).The multi-factor logistic regression analysis showed that the diabetes[OR=1.417, 95%CI (1.196 -1.803), P =0.001], puncture failure[OR=1.393, 95%CI (1.185 -1.638), P =0.000], tightly binding after hemodialysis [OR=1.249, 95%CI (1.101-1.416), P=0.001], oppression time longer than 30 min after hemodialysis[OR=8.369, 95%CI (1.725 -40.596), P=0.008], systolic pressure[OR=1.031, 95%CI (1.001 -1.061), P =0.040], ultrafiltration rate[OR =1.490, 95%CI (1.146-1.937), P=0.003], high-sensitivity C-reactive protein[OR=1.594, 95%CI(1.085-2.342), P=0.017], low-density lipoprotein cholesterol [OR=9.456, 95%CI (2.534 -55.040), P=0.007] and D-dimer[OR=11.711, 95%CI (5.310-69.231), P=0.005] were independent risk factors for thrombosis in internal arteriovenous fistula in maintenance hemodialysis patients .Usage of low molecular weight heparin [ OR=0.101, 95%CI (0.017 -0.590), P=0.011] was protective factor.Conclusions Thrombosis in internal arteriovenous fistula in patients with maintenance hemodialysis is not only related to metabolic factors , but also related to nursing factors .We should strictly control the ultrafiltration rate , improve puncture success rate , strengthen the health education and nursing observation post operation so as to early spot and prevent the thrombosis in internal arteriovenous fistula .