RESUMO
<p><b>OBJECTIVE</b>To screen for genetic mutations in families featuring non-syndromic hearing loss.</p><p><b>METHODS</b>Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families. Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced.</p><p><b>RESULTS</b>Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation, 1 was 235 delC+299_300 delAT compound heterozygous mutation, and 6 were 79G>A+341G>A heterozygosis in cis mutation. No 1555A>G mutation of mitochondrial DNA (mtDNA) was found in the 16 families.</p><p><b>CONCLUSION</b>The incidence of mtDNA 12S rRNA 1555A>G mutation in Jiangsu province may be lower than the average across China. Mutations of GJB2 genes may account for as much as 64.7% of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.</p>
Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Sequência de Bases , Conexina 26 , Conexinas , Genética , DNA Mitocondrial , Genética , Predisposição Genética para Doença , Perda Auditiva , Genética , Heterozigoto , Homozigoto , Dados de Sequência Molecular , Mutação , Linhagem , RNA Ribossômico , GenéticaRESUMO
<p><b>OBJECTIVE</b>To study the anti-inflammatory and analgesic actions of Aike Mixture (AKM).</p><p><b>METHODS</b>A total of 100 male mice were randomly assigned into 5 groups: a normal control group, a drug control group (a hydrocortisone subgroup and an atropine subgroup), a high-dose AKM group, a mid-dose AKM group and a low-dose AKM group. Xylene was spread on the left ear of the experimental mice to induce inflammation, and 1% acetic acid solution injected into the abdominal cavity to produce pain so as to cause the body bend. Different doses of AKM were given and their actions observed.</p><p><b>RESULTS</b>AKM had obvious anti-inflammatory effect on the xylene-induced ear tumefaction and inhibited the pain-caused body bend in the AKM groups, with significant difference from the normal control (P < 0.01).</p><p><b>CONCLUSION</b>AKM has good anti-inflammatory and analgesic effects, which is of clinical significance in the treatment of chronic prostatitis.</p>