Analysis of genotype-phenotype correlation for GJB2 in 221 non-syndromic deafness probands and their pedigrees / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To assess the possible genotype-phenotype correlation for GJB2.</p><p><b>METHODS</b>Retrospectively analyzed GJB2 gene mutations with non-syndromic hearing impairment (NSHI) patients and their families audiological data. Individuals were grouped, according to non-truncated mutant (non-truncating, NT) and truncating mutations (truncating, T), into T/T group, T/NT group and NT/NT group. And according to whether they carry 235delC, grouped into 235delC/235delC group, 235delC/Non-235del group and Non-235delC/Non-235delC group.</p><p><b>RESULTS</b>Grouped according to whether the truncation mutants:Fisher exact statistical analysis showed that the degree of hearing loss among the three groups did not meet the random distribution (P = 0.003) , T/T group was significantly higher than T/NT group (P = 0.000) and NT/NT group (P = 0.000) on the degree of hearing loss. Grouped according to whether they carry 235delC mutation: degrees of hearing loss among the three groups were statistically significant differences. Respectively pairwise comparisons (Fisher exact test) found 235delC/235delC group was significantly higher than 235delC/Non-235delC on the degree of hearing loss group (P = 0.001) and Non-235delC/Non-235delC group (P = 0.000), 235delC/Non-235delC group higher than Non-235delC/Non-235delC group (P = 0.033). In GJB2 mutations homozygous and compound heterozygous mutation genotype:G109A/G109A, 235delC/512insAACG, 299delAT/G109A and 235delC/G109A degree of hearing loss caused by genotype was significantly lower than 235delC/235delC group.</p><p><b>CONCLUSIONS</b>235delC homozygotes have significantly more hearing impairment, when compared with 235delC/non-235delC compound heterozygotes. People with two non-235delC mutations have even less hearing impairment. Patients with non-truncation mutants (G109A) suffer from lighter hearing loss than truncation mutations(235delC, 299delAT).</p>

Clinical research about brain oxygen metabolism and neuroelectrophysiology during mild hypothermia in patients with severe head injury / 中华外科杂志

<p><b>OBJECTIVE</b>To observe the changes of brain oxygen metabolism and neuroelectrophysiology after severe brain injury, and the effects of hypothermia on severe brain injury.</p><p><b>METHODS</b>148 patients with severe brain injury (GCS 3 - 8, admitted within 10 hours from injury) were selected for this study. Patients were divided into 3 groups, Group GCS 7 - 8, Group GCS 5 - 6 and Group GCS 3 - 4. Every group were also randomly assigned to normothermia and hypothermia subgroup. Patients in the hypothermia group were cooled to 32 approximately 34 degrees C. SLSEP, BAEP, P(br)O(2) and rSaO(2) were recorded in each group at the same time.</p><p><b>RESULTS</b>In the Group GCS 7 - 8, N20 in SLSEP, I/V in BAEP and rSaO(2) were improved significantly after mild hypothermia treatment, and P(br)O(2) was decreased by hypothermia; In the Group GCS 5 - 6, N20 in SLSEP, I/V in BAEP and rSaO(2) were improved by hypothermia, and P(br)O(2) was decreased in hypothermia subgroup; In the Group GCS 3 - 4, no significant difference was found.</p><p><b>CONCLUSION</b>Mild hypothermia has a significant effect on patients of GCS 7 - 8 and a doubt effect on patients of GCS 5 - 6. It seem no effect on patients of GCS 3 - 4. Brain oxygen metabolism and neuroelectrophysiology are important to value the therapeutic effect on severe brain injury.</p>