Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Objective To investigate the therapeutic effect of different combination regimens on patients with high-frequency sudden sensorineural hearing loss(SSNHL). Methods 82 patients with high-frequency SSNHL from December 2013 to May 2017 were enrolled. The control group was treated with hormone,lidocaine, and genetein combination therapy,while the observation group received systemic hormones,and local hormones combined with hyperbaric oxygen therapy,the average frequency of pure tone valve improvement,complications and adverse reactions in two groups were compared.Results After the treatment,the average pure tone of the two groups was significantly improved than pretherapy(tcontrol group = 10.28,P = 0.00;tobservation group = 11.06, P=0.00),but there was no significant difference in hearing improvement between the two groups(t=0.680,P=0.698),the total effective rate in the control group was 63.41%,in which the observation group was 68.29%,the difference was not statistically significant(χ2=0.230,P=0.816),but the cure rate was 26.83% in the observa-tion group which was higher than that in the control group(7.32%)(χ2=2.05,P=0.040).There was no signifi-cant difference in improvement of complication(tinnitus and ear nausea)between the two groups(χ2Tinnitus =0.000,P=1.000;χ2Aurussion=0.000,P=1.000),and there was no obvious adverse reaction in both groups. Conclusions Treatment of high-frequency SSNHL,hormone and hyperbaric oxygen therapy is good and safe, which can effectively improve the patient′s complication(tinnitus and ear nausea).

Objective The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHL)in Guizhou province.Methods Genomic DNAs of 356 patients of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12SrRNA.Results Eighty-eight (24.72%)out of 356 patients were found carrying at least one pathogenic gene mutation.Among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of com-pound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations.Twenty-nine patients with the SLC26A4 mutations were found (8.15%),including 9 cases(2.53%)of homozygous mutations and 19 cases (5.34%)of single heterozygous mutations.Homogenic mitochondrial 12SrRNA 1555A>G mutations were in 10 patients(2.81%)and 1494C>T mutations in 10 patients (0.56%),and heterogeneous mitochondrial 12SrRNA 1555A>G mutations in 7 patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in 1 patients. Conclusion The mutations of GJB2 and SLC26A4 gene are two major pathogenic genes for patients with NSHL in Guizhou province.Our study provides a theoretical basis for the early diagnosis,genetic counseling and treatment of deafness.

Objective To evaluate the short-term and long-term effect of comprehensive traditional Chinese medical therapy for regulating spleen and stomach in treating tinnitus. Methods Telephone follow-up was carried out in 333 cases of qualified tinnitus outpatients and inpatients from the First Affiliated Hospital of Guangzhou University of Chinese Medicine admitted from January of 2008 to December of 2014. All of the included patients were treated by comprehensive traditional Chinese medical therapy for regulating spleen and stomach. The degree of tinnitus was evaluated by Tinnitus Effect Questionnaire(TEQ) on the first visit and the last visit and during follow-up, and then the TEQ scores were analyzed by statistical methods. Results On the first visit, the mean TEQ scores were 11.17 ± 3.11. On the last visit, the mean treatment course was 33.64 ± 37.07 days, and the mean TEQ scores were 9.57 ± 3.43; 5 cases were cured, 25 were markedly effective, 79 were effective, 224 were ineffective, and the total effective rate was 32.73%. The interval of the first follow-up to the first visit averaged 32.89 ± 8.53 months, and the mean TEQ scores were 5.35 ± 3.71 during the interval; 20 cases were cured, 21 were markedly effective, 39 were effective, 43 were ineffective, and the total effective rate was 65.04%. The interval of the second follow-up to the first visit averaged 57.48 ± 7.91 months, and the mean TEQ scores were 3.42 ± 3.39 during the interval; 37 cases were cured, 21 were markedly effective, 26 were effective, 39 were ineffective, and the total effective rate was 68.29%. Conclusion Comprehensive traditional Chinese medical therapy for regulating spleen and stomach has certain effect in treating tinnitus, and the long-term effect is satisfactory.

Objective To evaluate the effect on salvage treatment of sudden deafness with comprehensive Chinese medicine therapy. Methods Fifty-three sudden deafness patients failing in conventional western medicine treatment were given comprehensive Chinese medicine therapy, and the salvage treatment followed by oral use of Chinese medicine, intravenous injection of Chinese patent medicine, acupoint injection, ear acupoint plastering, acupoint application, acupuncture, sound healing, and massage. The therapeutic effect and the relief of major accompanying symptoms were evaluated after treatment, and the relationship of disease course with clinical efficacy was also investigated. Results (1) After treatment, 4 cases were cured, 9 were markedly effective, 13 were effective, 27 were ineffective, and the total effective rate was 49.06%. (2) Except for the 2 excluded cases, the major accompanying symptoms such as tinnitus, auricular distress, and vertigo were relieved to various degrees in other cases. ( 3) Twenty-two patients had a course of disease within 14 days, and the total effective rate for them was 72.73%. A total effective rate of 32.26% was achieved in 31 cases with disease course over 14 days. It is indicated that the therapeutic effect for patients with a disease course less than 14 days was superior to that with a disease course over 14 days (P<0.01). Conclusion Comprehensive Chinese medicine therapy exerts inspiring therapeutic effect on salvage treatment of sudden deafness, and earlier intervention results into better effect.