Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China.

CONCLUSION: In the northwest of China, the prevalence of mutations of the three prominent deafness-related genes, GJB2, SLC26A4, and mitochondrial DNA (mtDNA) 12S rRNA, among Tibetan, Tu nationality, and Mongolian subjects is high, at 19%, 28.57%, and 21.05%, respectively. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss. OBJECTIVE: To analyze the prevalence of the three common deafness genes GJB2, mtDNA, and SLC26A4 gene mutations in Tibetan, Tu nationality, and Mongolian patients with nonsyndromic hearing impairment in the Northwest region of China. METHODS: Genomic DNA was extracted from a total of 189 Tibetan, Tu nationality, and Mongolian probands from the northwest of China. PCR and direct sequencing were used to analyze the coding region of GJB2, mtDNA, and SLC26A4 genes. RESULTS: The mutant allele rate of GJB2 gene was 6.2% in Tibetan and 11.22% in Tu nationality patients, c.235delC was the most prevalent mutation, accounting for 75% of the mutant GJB2 alleles. Mutant allele frequency of SLC26A4 in Tibetan, Tu nationality, and Mongolian subjects was 4.54%, 6.12%, and 15.79% respectively; p.IVS7-2A>G was the most common form. Mongolian cases were significantly higher than Tibetan cases (χ² = 7.281, p = 0.007 and p < 0.05). mtDNA A1555G mutation was detected in six Tibetan, five Tu nationality, and one Mongolian subject; one Tibetan patient carried the C1494T mutation.

Analysis of the hereditary etiology of 336 patients with non-syndromic sensorineural hearing loss from Ningxia Hui Autonomous Region of China / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the molecular genetic causes and their characteristics of deafness in Ningxia province, we established screening of three common hereditary deafness genes in 336 deaf and hard-of-hearing patients in this district.</p><p><b>METHODS</b>Peripheral blood samples were obtained from a total of 336 patients with non-syndromic sensorineural hearing loss in parts of special education schools in Ningxia province to extract genomic DNA. The mitochondrial DNA 12S rRNA m.1555A > G mutation was screened by PCR Alw26I digestion and sequence analysis PCR and direct sequencing were used to analyze the coding region of GJB2 and exons 8 and 19 of SLC26A4. Statistical analysis was performed by using SPSS 11.0 software. Frequencies of different GJB2 or SLC26A4 mutations were compared between Han and Hui people.</p><p><b>RESULTS</b>Among these 336 patients, seven cases (2.08%, 7/336) were found to carry mtDNA 12S rRNA m.1555A > G homozygous mutation, 45 cases (13.39%) were caused by GJB2 mutations and 28 cases (8.33%) had two mutated alleles (homozygote and compound heterozygote) of SLC26A4. In detail, 16.67% (56/336) patients carried GJB2 mutations including 11 single mutant carriers. The allele frequency of c.235delC and c.299_300delAT were 9.52% (64/672) and 2.68% (18/672), respectively, making up 81.19% (82/101) of all pathogenic mutated alleles for GJB2. The single mutant allele carriers of SLC26A4 is 32, and two types (c.919-2A > G and c.2168A > G) accounted for 95.29% (24/27) mutations, totally. We also found that statistically significant differences in c.919-2A > G and c.2168A > G frequencies between Han and Hui people (c.919-2A > G, χ(2) = 8.229, P = 0.004; c.2168A > G, χ(2) = 5.277, P = 0.022). However, there was no statistically significant difference in GJB2 mutation between Han and Hui people.</p><p><b>CONCLUSIONS</b>GJB2 mutation was a primary cause for non-syndromic sensorineural hearing loss in Ningxia province, and c.235delC was the most common mutant forms of GJB2. c.919-2A > G and c.2168A > G were common mutant forms of SLC26A4, their frequencies were also statistically significant differences between Han and Hui people.</p>

[Prevalence and associated factors of school physical violence behaviors among middle school students in Beijing].

OBJECTIVE: To described the prevalence of school physical violence behaviors and to explore its associated factors among middle school students in Beijing. METHODS: In 2009, a randomly selected cross-sectional survey was conducted among 5718 students in grades 7 to 12 in Beijing. A self-report anonymous questionnaire involving physical violence at school and socio-demographic variables, such as sex, grades, family economic status and family structure, peer relationships, and communication with their parents etc. were completed by students themselves. Logistic regression was used to estimate the association between physical violence and socio-demographic variables. RESULTS: Among the students, 14.3% reported that they had had physical violence behavior in school during the past 12 months. Male students had been more likely to have physical violence behaviors than female students (Male 25.2%, Female 5.1%). For both male and female students, poor school cohesion were the risk factors of physical violence behaviors (Male OR = 1.060, Female OR = 1.065). For male students, factors as father's lower education level (OR = 1.653), remarried/single-parent families (OR = 1.834), low-grade (grade 7 OR = 5.291; grade 11 OR = 1.526), poor school performance (OR = 1.470) etc were the risk factors of physical violence behaviors; while better-off family economic status (OR = 0.546), good peer relationships (OR = 0.618), and easy to communicate with the father (OR = 0.756) were the protective factors of physical violence behaviors. For female students, easy to communicate with her mother (OR = 0.358) were the protective factors of physical violence behaviors. CONCLUSION: For male and female students, the prevalence of school physical violence and its related factors were different. Actions on prevention against physical violence behaviors should be fully considered, including factors as gender, personal characteristics, family, school and peers etc.

Clinical analysis of sphenoid disease manifesting orbital apex syndrome / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the relationship of sphenoid disease and orbital apex syndrome and to improve the diagnosis of sphenoid disease.</p><p><b>METHODS</b>Twelve patients with sphenoid disease manifesting orbital apex syndrome from 2000 to 2004 were retrospectively analyzed, especially the processes of both diagnosis and treatment. The factors which may lead to misdiagnosis were discussed.</p><p><b>RESULTS</b>All the twelve patients failed to be correctly diagnosed at the ophthalmology department. Having been undergone CT or MRI, seven cases of sphenoiditis, three cases of polyps of sphenoidal sinus and two cases of sphenethmoid mucocele were confirmed respectively. All of the patients underwent endoscopic sphenoid surgery. The symptoms of the patients were improved or disappeared after the operations.</p><p><b>CONCLUSIONS</b>The sphenoid disease with orbital apex syndrome was easily misdiagnosed. The possible causes of misdiagnosis were: low incidence of the disease, nonspecific eye symptoms, and unawareness of the doctor, especially ophthalmologist. CT or MRI are the gold standards of diagnosis of sphenoid disease. Endoscopic sinus surgery is effective and safe technique for the treatment of the disease.</p>