OBJECTIVETo screen for common mutations of deafness-related genes in order to determine the carrier rate, types of mutation, and their relevance to hearing loss.

METHODSFor 4 deafness-related genes GJB2, GJB3, 12S rRNA and SLC26A4, 20 common mutations were screened among 2725 newborns from Shaoxing, Zhejiang by matrix-assisted laser desorption ionization-time of flight-mass spectrometry.

RESULTSAmong the 2725 newborns,149 (5.47%) were diagnosed with mutations, which included 84 (3.08%) with GJB2 mutations, 13 (0.48%) with GJB3 mutations, 49 (1.80%) with SLC26A4 mutations and 3 (0.11%) with 12S rRNA mutations. Fourteen mutational hotspots were identified. The most common mutations have included GJB2 c.235delC (65 cases), SLC26A4 IVS7-2A>G (34 cases), GJB2 c.299_300delAT (13 cases), GJB3 c.538C>T (7 cases), GJB2 c.176_191del16 (6 cases) and GJB3 c.547G>A (6 cases).

CONCLUSIONThe detecting rate for deafness-related gene mutations has been relatively high. To broaden the screening spectrum may improve such rate. Besides GJB2, 12S rRNA, SLC26A4, GJB3 also features a high mutation rate in the region.

Asian Continental Ancestry Group ; genetics ; China ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Neonatal Screening ; RNA, Ribosomal ; genetics

Objective To discuss the effect of grade repositioning designed by our team on preventing the development of pressure ulcers in ICU patients and its influence on nursing workload of repositioning. Methods Eligible patients admitted to ICU were randomly divided into control group (traditional repositioning,219 cases)and experimental group(grade repositioning,230 cases).The patients in control group was routinely repositioned every 2 hours;the patients in experimental group was classified as"A""B""C"three levels according to Braden Scores and catecholamine scores,and their repositioning frequency was 1 hour,2 hours and 4 hours respectively.Number of pressure ulcers and nursing workload of repositioning were observed and compared between the two groups. Results At last,the data analysis was included in 201 patients in control group and 220 patients in experimental group.There was no significant difference in the rate of pressure ulcer occurrence between the experimental group(0)and the control group[0.1%(2/201)](P>0.05).But the rate of skin redness occurrence was significant less in the experimental group than in the control group[1.36%(3/220)vs.11.44%(23/201), χ2=13.20,P<0.05]. The mean repositioning times for each patient in the experimental group was significantly less than the control group[(7.22±1.81)times/day vs.(11.38±1.23)times/day],and turn over time was(42.09±1.68)min and(66.35±1.83)min which was also significantly different(t=6.563, 5.210, P<0.05). Conclusion Grade repositioning could effectively prevent critically illed patients from the occurrence of pressure ulcers,while reducing the overall nursing workload of repositioning in an ICU.