Analysis of the hereditary etiology of 336 patients with non-syndromic sensorineural hearing loss from Ningxia Hui Autonomous Region of China / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the molecular genetic causes and their characteristics of deafness in Ningxia province, we established screening of three common hereditary deafness genes in 336 deaf and hard-of-hearing patients in this district.</p><p><b>METHODS</b>Peripheral blood samples were obtained from a total of 336 patients with non-syndromic sensorineural hearing loss in parts of special education schools in Ningxia province to extract genomic DNA. The mitochondrial DNA 12S rRNA m.1555A > G mutation was screened by PCR Alw26I digestion and sequence analysis PCR and direct sequencing were used to analyze the coding region of GJB2 and exons 8 and 19 of SLC26A4. Statistical analysis was performed by using SPSS 11.0 software. Frequencies of different GJB2 or SLC26A4 mutations were compared between Han and Hui people.</p><p><b>RESULTS</b>Among these 336 patients, seven cases (2.08%, 7/336) were found to carry mtDNA 12S rRNA m.1555A > G homozygous mutation, 45 cases (13.39%) were caused by GJB2 mutations and 28 cases (8.33%) had two mutated alleles (homozygote and compound heterozygote) of SLC26A4. In detail, 16.67% (56/336) patients carried GJB2 mutations including 11 single mutant carriers. The allele frequency of c.235delC and c.299_300delAT were 9.52% (64/672) and 2.68% (18/672), respectively, making up 81.19% (82/101) of all pathogenic mutated alleles for GJB2. The single mutant allele carriers of SLC26A4 is 32, and two types (c.919-2A > G and c.2168A > G) accounted for 95.29% (24/27) mutations, totally. We also found that statistically significant differences in c.919-2A > G and c.2168A > G frequencies between Han and Hui people (c.919-2A > G, χ(2) = 8.229, P = 0.004; c.2168A > G, χ(2) = 5.277, P = 0.022). However, there was no statistically significant difference in GJB2 mutation between Han and Hui people.</p><p><b>CONCLUSIONS</b>GJB2 mutation was a primary cause for non-syndromic sensorineural hearing loss in Ningxia province, and c.235delC was the most common mutant forms of GJB2. c.919-2A > G and c.2168A > G were common mutant forms of SLC26A4, their frequencies were also statistically significant differences between Han and Hui people.</p>

Clinical analysis of sphenoid disease manifesting orbital apex syndrome / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the relationship of sphenoid disease and orbital apex syndrome and to improve the diagnosis of sphenoid disease.</p><p><b>METHODS</b>Twelve patients with sphenoid disease manifesting orbital apex syndrome from 2000 to 2004 were retrospectively analyzed, especially the processes of both diagnosis and treatment. The factors which may lead to misdiagnosis were discussed.</p><p><b>RESULTS</b>All the twelve patients failed to be correctly diagnosed at the ophthalmology department. Having been undergone CT or MRI, seven cases of sphenoiditis, three cases of polyps of sphenoidal sinus and two cases of sphenethmoid mucocele were confirmed respectively. All of the patients underwent endoscopic sphenoid surgery. The symptoms of the patients were improved or disappeared after the operations.</p><p><b>CONCLUSIONS</b>The sphenoid disease with orbital apex syndrome was easily misdiagnosed. The possible causes of misdiagnosis were: low incidence of the disease, nonspecific eye symptoms, and unawareness of the doctor, especially ophthalmologist. CT or MRI are the gold standards of diagnosis of sphenoid disease. Endoscopic sinus surgery is effective and safe technique for the treatment of the disease.</p>