A novel technique for simultaneous multi-gene mutation screening in 225 patients with nonsyndromic hearing loss / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>Using simultaneous multi-gene mutation screening to investigate the new method molecular epidemiological basis of 225 patients with nonsyndromic hearing loss in Tianjin, and verifying the for simultaneous multi-gene mutation screening.</p><p><b>METHODS</b>Two hundred and twenty-five patients with severe non-syndromic deafness from Tianjin CDPF and Association of the Deaf were included in the study. The single nucleotide polymorphisms scan, (SNPscan) technique was used for screening the 115 spots mutations in three common deafness-related genes (GJB2, SLC26A4, mtDNA 12S rRNA) of patients with nonsyndromic hearing loss in Tianjin. We verified the results by Sanger sequencing.</p><p><b>RESULTS</b>Among the 225 patients, there were 111 cases of deafness caused by mutation (49.3%). Using this method, up to 50% of the patients in our study were identified to have hereditary HL caused by mutations in the three genes. 56 patients with the GJB2 mutations were detected (24.9%), including 30 cases of homozygous mutations (13.3%), 26 patients (11.6%) of compound heterozygous mutations, and 21 cases (9.33%) of single heterozygous mutations. 50 patients with the SLC26A4 mutations were detected (22.2%), including 22 cases of homozygous mutations(9.8%), 28 patients (12.4%) of compound heterozygous mutations, and 22 cases (9.8%) of single heterozygous mutations. mtDNA 12S rRNA A1555G mutation was detected in 5 patients (2.2%). mtDNA 12S rRNA 1494C>T mutation was not detected. We verified the results by Sanger sequencing. The accuracy of the sequencing results was 100%. The SNPscan cost eight hours and 160 yuan (each sample).</p><p><b>CONCLUSIONS</b>Applying SNPscan technology can be accurate, rapid and cost-effective diagnostic screening in patients with hearing loss for etiology investigation. It is expected to become an effective means of large-scale genetic testing for hereditary deafness.</p>

Multi-center study on the treatment of sudden deafness accompanied with tinnitus / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the clinical characteristics and the effects of different drug therapies in patients of sudden deafness accompanied with tinnitus.</p><p><b>METHODS</b>The international standardized clinical research methods, the unified design and program were used in the study. The patients of sudden deafness accompanied with tinnitus, aged between 18 to 65 years old, were recruited, whose duration was less than two weeks with no medication. The patients were divided into four types according to the hearing curve: type A was acute sensorineural hearing loss in low tone frequencies, type B was acute sensorineural hearing loss in high tone frequencies, type C was acute sensorineural hearing loss in all frequencies and type D was total deafness. Each type had four different treatment programs, based on the unified designed randomized table.</p><p><b>RESULTS</b>A total of 1024 cases with single side sudden deafness were recruited in the study by 33 hospitals in China from August 2007 to October 2011. Among the 1024 cases, 922 cases were accompanied with tinnitus (90.04%). By classification of audiogram, among the 922 cases, 169 cases were type A (82.44%), 127 cases were type B (90.07%), 370 cases were type C (92.04%), and 256 cases were type D (92.75%). The tinnitus mostly was persistent and low tone tinnitus. The degree of the tinnitus was mostly 2-3 grade. The curative effects of different types were analyzed, type A had the highest rate of 96.18%, type C was 87.75%, type B was 81.51%, and type D had the lowest rate of 75.32%. Significant difference of curative rate between different types was detected (χ² = 125.33, P = 0.000). There had no significant difference between the four different treatment groups (all P > 0.05).</p><p><b>CONCLUSIONS</b>In the cases with single side sudden deafness accompanied with tinnitus, the type in low tone frequencies has the best curative effect, followed by the type in all frequencies. The type in high tone frequencies and the total deafness type have poor curative results. The steroid plays a good effect in the treatment.</p>

Evaluation of the injured range of vestibular superior and inferior nerves in sudden deafness patients with vertigo using video head impulse test / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the video head impulse tests (vHIT) application values in assessment of the vestibular nerves, function in sudden deafness patients with vertigo.</p><p><b>METHODS</b>There were 60 cases (120 ears) of healthy volunteers as control group, and 182 cases (182 ears) of sudden deafness with vertigo patients as study group. The study group received vHIT and caloric test, and the control group received vHIT. Functions of vestibular superior and inferior nerves were analyzed by the gains of vHIT and the nystagmus, s unilateral weakness of caloric test, with SPSS17.0 software.</p><p><b>RESULTS</b>The values of vHIT-G of the six semicircular canals in the control group were normal distribution and no statistical significance among them (F = 0.005, P = 1.000). The vHIT-G averages of both sides of anterior, horizontal and posterior semicircular canals were (15.20 ± 11.00) %, (15.30 ± 13.30) %, and (15.15 ± 14.72) % respectively. In the study group, the vHIT-G of the affected side were (21.73 ± 14.84) %, (21.20 ± 28.24) %, and (19.22 ± 23.50) %, with normal distribution, and in which statistical significance was detected comparing with those in the control group (P < 0.05). The positive rates were 26.9% (49/182) in vHIT, 70.3% (128/182) in caloric test. Significant difference (P < 0.05) was observed between vHIT and caloric test examined by chi-square test. According to the results of vHIT, there were 15 cases (8.2%) damaged vestibular superior and inferior nerves areas, 19 cases (10.4%) damaged the superior vestibular nerve area, and 15 cases (8.2%) damaged the inferior vestibular nerve area. In combination with caloric test results, it was shown that there were 29 cases (15.9%) damaged vestibular superior and inferior nerves areas, 101 cases (55.5%) damaged the superior vestibular nerve area, and 1 case (0.5%) damaged the inferior vestibular nerve area.</p><p><b>CONCLUSIONS</b>vHIT can assess the function of six semicircular canals and illustrate high frequency of vestibular nerves. Caloric test combined with vHIT have more advantages to comprehensive assess vestibular damage of sudden deafness patients with vertigo.</p>