Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

【Objective】 To investigate whether 17β-estradiol (βE2) can activate the NF-E2-related factor 2(Nrf2) pathway to resist the downregulation of retinal function induced by light damage. 【Methods】 Two weeks after female SD rats were castrated, they were divided into the following six groups: control group (control), light-damage group (LD), saline group, saline light-damage group (saline-LD), βE2 group, and βE2 light-damage group (βE2-LD). Rats in the light-damage were exposed to 8000-lux fluorescence for 12 h after 18 h of dark adaptation. Then electroretinogram (ERG), immunofluorescence, Real-time PCR and immunohistochemical detection were performed after one day of dark recovery. 【Results】 The results of ERG showed that ERG was lower in LD group than in control group (P<0.05). After light damage, ROS was increased and the mRNA expressions of antioxidant genes, such as Sod1, Sod2, Cat, Glrx1, Glrx2, Txn1, and Txn2 were decreased (all P<0.05). After βE2 administration, compared with those in saline-LD, ROS level was decreased, the levels of Nrf2 protein and antioxidant genes were increased, and ERG was recovered to a certain extent in βE2-LD (P<0.05). 【Conclusion】 βE2 can restore the function of rat retina, and its mechanism might be related to the upregulation of Nrf2 and antioxidant genes.

Objective:To explore the effect of nursing management model based on the man, machine, material, method, measurement and environment (5M1E) analysis on nosocomial infection of multidrug-resistant organism (MDRO) in Intensive Care Unit (ICU) .Methods:From January 2019 to December 2020, convenience sampling was used to select ICU patients in the Second Hospital of Shanxi Medical University as the research objects. Patients admitted to the hospital from January to December 2019 were taken as the control group ( n=1 224) to implement routine nursing management. Patients admitted to the hospital from January to December 2020 were taken as the observation group ( n=1 134) , and the nursing management model based on 5M1E analysis was implemented. The differences in the use rate of antibacterial drugs, the intensity of antibacterial drug use, the separation amount of newly MDRO per thousand hospitalization days, the length of ICU stay, the total length of stay, and the cost of treatment were compared between the two groups. Results:The use rate of antibacterial drugs, the intensity of antibacterial drug use, and the separation amount of newly MDRO per thousand hospitalization days in the observation group were lower than those in the control group, and the differences were statistically significant ( P<0.01) . The length of ICU stay, total length of stay, and treatment costs of the observation group were less than those of the control group, and the differences were statistically significant ( P<0.01) . Conclusions:The nursing management model based on the 5M1E analysis can reduce the use rate of antibacterial drugs in ICU patients, the intensity of antibacterial drug use, the separation amount of newly MDRO per thousand hospitalization days, shorten the length of ICU stay, total length of stay, and reduce treatment costs, which is worthy of clinical promotion.

Objective The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHL)in Guizhou province.Methods Genomic DNAs of 356 patients of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12SrRNA.Results Eighty-eight (24.72%)out of 356 patients were found carrying at least one pathogenic gene mutation.Among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of com-pound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations.Twenty-nine patients with the SLC26A4 mutations were found (8.15%),including 9 cases(2.53%)of homozygous mutations and 19 cases (5.34%)of single heterozygous mutations.Homogenic mitochondrial 12SrRNA 1555A>G mutations were in 10 patients(2.81%)and 1494C>T mutations in 10 patients (0.56%),and heterogeneous mitochondrial 12SrRNA 1555A>G mutations in 7 patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in 1 patients. Conclusion The mutations of GJB2 and SLC26A4 gene are two major pathogenic genes for patients with NSHL in Guizhou province.Our study provides a theoretical basis for the early diagnosis,genetic counseling and treatment of deafness.

Objective The hearing and speech rehabilitation effects by hearing aid use and cochlear implanta‐tion in hearing -impaired children were compared .Methods A total of infants aged from 6 months to 3 years with severe hearing loss of prelingual nature were included .They were divided into 2 groups :group 1 (18 with hearing aids) and group 2 (14 with cochlear implantation) .There was no significant difference in the degree of hearing loss and age between the 2 groups .They received rehabilitation education of the same content for a year .Their unaided and aided thresholds were tested in sound field while the IT -MAIS was used for evaluating hearing ability of two groups before and after 3 ,6 ,9 ,and 12 months of hearing aid use and cochlear implantation .Results In both groups ,hearing were better in aided conditions than those of in unaided ,while those from the cochlear group were significantly improved at more frequencies than those of the hearing aid group .In general ,the longer use and train‐ing ,the better hearing improvement .The mean scores of auditory performance in the cochlear implantation group at 6 months were significantly higher in comparison with those at 3 months (P<0 .05) .There were significant differ‐ences in mean scores between the two groups at 6 ,9 ,12 months after fitting (P<0 .05) .The verbal ability scores ,hearing and speech rehabilitation levels in the cochlear group were higher than those of in the hearing aid group (P<0 .05) .Conclusion For severe hearing loss children ,cochlear implantation could produce more noticeable effects than hearing aids .