Analysis of mutations of 4 common genes among 216 patients with non-syndromic hearing impairment / 中华医学遗传学杂志

<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>

Comparative study on pre- diagnosed computed tomography features and post- surgery pathological risk grades of the gastrointestinal stromal tumors / 中国医师进修杂志

Objective To study the value of pre-surgery computed tomography(CT)scan on post-surgery pathological risk grades of gastrointestinal stromal tumor(GIST).Methods Forty-one patients of GIST were retrospectively evaluated and confirmed by histological diagnosis. Tumor size, density, margin, contour, location, growth pattern, degree and pattern of lesion enhancement was analyzed. Results Based on pathological results, the total diagnosis accuracy of location and character on CT is 95.1%(39/41)and 92.6%(38/41), respectively.Tumors size of low risk group was smaller than that in the other two groups(P>0.05).There was no significant difference in tumor size between moderate and high risk groups. Using Chi-test analysis, tumor density, margin, contour, growth pattern was statistically different among different pathological risk grades (P < 0.05). CT features of enhancement were not significantly different among the pathological risk groups (P > 0.05). Conclusions CT plays an important role not only in the detection and localizing GIST but also in the evaluation of the extension and characteristics of these tumors. CT imaging can predict the invasive behaviors through tumor density, size, shape, contour, growth pattern and enhanced pattern.