[Analysis of deafness-related gene mutations in 100 non-syndromic hearing loss patients in Henan province].

OBJECTIVE: To preliminarily determine the gene mutation frequency and the hotspots in Henan province, we analysed the deafness-related gene mutation in patients with non-syndromic hearing loss (NSHL). METHOD: Genomic DNA samples of 100 patients with NSHL in Henan province were extracted from peripheral blood after clinical history inquiry and clinical examination, Four common deafness genes GJB2, SLC26A4, mitochondrial 12SrRNA, and GJB3 were detected by Sanger sequencing method,and then data analysis were conducted. RESULT: Among 100 patients with NSHL. the gene mutation frequency was 44%. In these patients, 29 cases had GJB2 mutations, 13 cases had SLC26A4 gene mutations, and 3 cases had mitochondrial 12SrRNA mutations. CONCLUSION: Among the patients with NSHL in Henan province, the most frequent mutation causing hereditary deafness was mutation in GJB2, followed by SLC26A4,and it will provide a theoretical basis to determine the etiology of deafness in Henan Province.

[Clinical analysis of 32 cases of Ramsay Hunt syndrome].

OBJECTIVE: To observe the clinical features and the treatment effect of 32 cases of Ramsay Hunt syndrome and explore the relationship between different clinical manifestations and the prognosis. METHOD: Using the integrated therapy including the medication and physiotherapy of ultrashort wave, the relationship between clinical manifestations and recovery time was analyzed. RESULT: Twenty two cases were cured, 10 cases showed improvement of the symptoms, and no patients complained ineffectiveness. The effective rate was 100%. The shortest recovery time was 13 days, and the longest recovery time was 1 year and 7 months. CONCLUSION: The key to cure Ramsay Hunt syndrome is comprehensive treatment in time. The different clinical manifestations have something to do with the prognosis.