ABSTRACT
<p><b>OBJECTIVE</b>To explore the characteristics of mutations 4 common deafness-related genes among 216 patients from Shanghai area with non-syndromic hearing impairment (NSHI).</p><p><b>METHODS</b>Thirteen mutation sites in the four genes, namely GJB2 (c.35delG, c.176del16, c.235delC, c.299delAT, and c.155delTCTG), SLC26A4 (c.IVS7-2A>G, c.2168A>G, and c.1229C>T), mtDNA 12SrRNA (m.1494C>T, m.1555A>G, m.7445A>G, and m.12201T>C) and GJB3 (c.538C>T) were detected among the 216 patients and 41 individuals with normal hearing. The frequency and types of mutations were compared between the two groups.</p><p><b>RESULTS</b>Among the 216 NSHI patients, the total detection rate was 16.20% (35/216). GJB2 mutations were found in 17(7.87%) of the 216 patients, which included 5 cases with homozygous c.235delC mutation, 5 with homozygous c.235delC mutation, 1 with homozygous c.299delAT mutation, and 1 with homozygous c.299delAT mutation. c.235delC and 299delAT mutations were found in 5 cases. SLC26A4 mutation was found in 12(5.56%) of the 216 patients, which included 2 cases with homozygous c.IVS7-2A>G mutation, 9 with homozygous c.IVS7-2A>G mutation, and 1 with homozygous c.2168A>G mutation. Homogeneous mtDNA 12SrRNA m.1555A>G mutation was found in 6(2.78%) of the 216 patients. No GJB3 gene mutation was detected. No mutation of the 4 genes were detected in the 41 individuals with normal hearing. In 2 cases of the 12 patients with SLC26A4 gene mutation, CT scan of the temporal bone has confirmed expansion of vestibular aqueduct.</p><p><b>CONCLUSION</b>Above results indicated that GJB2 and SLC26A4 were the major genes involved with hearing loss in Shanghai area.</p>
ABSTRACT
Objective To investigate the relationships between expressions of HPV and EBV in larynge-al carcinoma. Methods DNA flow-through hybridization and gene chip genotyping technology(HybriMax)and real-time quantitative PCR were used for 37 subtypes of HPV detection and quantitative detection of EBV in 101 cases of laryngeal cancer paraffin embedded tissue specimens. 43 cases of vocal cord polyp of paraffin embedded tissue specimens were used as the controls. Results The positive rate of laryngeal carcinoma was 13.86% in group HPV and 9.3% in the control group ,with no statistically significant difference between the positive expres-sions of HPV in the laryngeal carcinoma group and control group(P>0.05). The positive rate of laryngeal carci-noma was 63.37% and 13.95%,respectively ,in group EBV ,and the control group ,with significant difference between them(P 0.05),but the difference was statistically significant in highly differentiated EBV as compared with those with low differentiation type,medium differentiation and poor differentiation(P 0.05). Conclusions The incidence of laryngeal carcinoma is closely related with EBV infection ,possibly relationed with HPV and high-risk subtypes of HPV have a certain role in the process of induced laryngeal carcino-ma. The gender ,age and duration of disease have no significant correlation with EBV infection. This study will provide a basis for further invesgitation of pathogenesis of laryngeal cancer and prevention and treatment of larynge-al cancer.
ABSTRACT
Epidermnoid cysts are henign, cutaneous cysts which commonly occur on face, neck and trunk. Retroauricular epidermoid cyst is rare reported which should be differentiated from auricle pseudocyst, lipoma, steatocystoma and fibroma. The hitopathological examination is a gold standard of diagnosis. Surgery of complete excision is the first choice of treatment methods.