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 analyze clinical characteristics and gene mutation of two patients diagnosed with P450 oxidoreductase deficiency(PORD). Methods Clinical data of 2 patients with PORD was collected from Ruijin hospital. POR gene mutation was analyzed by PCR-Sanger sequencing. A retrospective analysis of literatures concerning PORD was performed. Results Patient 1, female, 16 years old, with 46,XX karyotype, presented with anorectal anomalies, clitoral hypertrophy at birth and irregular menstruation; Patient 2, female, 32 years old, with 46,XX karyotype, showed irregular menstruation and infertility, both without obvious skeletal deformity. Genetic test of POR gene mutation revealed that patient 1 carried a homozygous missense mutation (R457H) and patient 2 carried a heterozygous mutation (R223X/ Y607C). The two mutations (R223X and Y607C) are reported for the first time in China. Conclusion P450 oxidoreductase deficiency which caused by mutations in POR gene has a variety of clinical manifestations, including abnormal steroid hormone synthesis with or without Antley-Bixler syndrome. The affirmative diagnosis should rely on steroid hormone measurement and POR gene analysis.

Objective:To explore the relationship among gratitude,self-esteem,and school life satisfaction of junior high school students.Methods:840 junior high school students were assessed by Gratitude Inventory,Self-Esteem Scale and School Life Satisfaction Rating Questionnaire.Results:① There were significant discrepancies between different gender,grade and school types in school life satisfaction.②Total score of gratitude,and three dimensions of gratitudepeople orientation,things orientation,morality orientation,and self-esteem were related to school life satisfaction.③ Hierarchical regression indicated that standard regression coefficient of people orientation gratitude,things orientation gratitude and self-esteem on school life satisfaction was positive and significant (?=0.12、0.13、0.36,P

Objective:To investigate the internet game addiction disorder and influential factors in the middle school students of Guangzhou.Methods:A total of 900 middle school students of Guangzhou selected by cluster sampling were investigated with unified questionnaires.Results:Of the middle school students tested,4.9%were diagnosed internet game addiction.There were remarkable differences of the addiction to network game in demography variable,such as age, educational background of father and family economic situation.Between online game addicts and non-addicts,there were significant discrepancies in social support,subjective support,use of support,self-identity,self investment today,and parent-child conflict.Gender,subjective support,parent-child conflict,self investment now,educational background of father and family economic situation entered the regression model.Conclusion:Internet game addiction is closely associated with social support,parent-child relationship,and self-identity.