An Analysis of the Common Deafness Gene Mutation from 356 Non-Syndromic Deafness Patients in Guizhou Province / 听力学及言语疾病杂志

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.

Comparison of Rehabilitation Effects of Deaf Children with Different Compensation Strategies / 听力学及言语疾病杂志

Objective The hearing and speech rehabilitation effects by hearing aid use and cochlear implanta‐tion in hearing -impaired children were compared .Methods A total of infants aged from 6 months to 3 years with severe hearing loss of prelingual nature were included .They were divided into 2 groups :group 1 (18 with hearing aids) and group 2 (14 with cochlear implantation) .There was no significant difference in the degree of hearing loss and age between the 2 groups .They received rehabilitation education of the same content for a year .Their unaided and aided thresholds were tested in sound field while the IT -MAIS was used for evaluating hearing ability of two groups before and after 3 ,6 ,9 ,and 12 months of hearing aid use and cochlear implantation .Results In both groups ,hearing were better in aided conditions than those of in unaided ,while those from the cochlear group were significantly improved at more frequencies than those of the hearing aid group .In general ,the longer use and train‐ing ,the better hearing improvement .The mean scores of auditory performance in the cochlear implantation group at 6 months were significantly higher in comparison with those at 3 months (P<0 .05) .There were significant differ‐ences in mean scores between the two groups at 6 ,9 ,12 months after fitting (P<0 .05) .The verbal ability scores ,hearing and speech rehabilitation levels in the cochlear group were higher than those of in the hearing aid group (P<0 .05) .Conclusion For severe hearing loss children ,cochlear implantation could produce more noticeable effects than hearing aids .

Analysis of deafness gene mutations by gene chip and its clinical significance / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze deafness gene mutations by genechip.@*METHOD@#The peripheral blood samples were obtained and DNA templates were extracted by extraction kits. The deafness gene mutations were distinguished by genechip.@*RESULT@#Among 42 patients with non-syndromic hearing loss, GJB2 235delC was found in 11 cases (7 cases were homozygosis, 4 cases were heterozygosis); 4 cases were shown to carry the PDS IVS7-2A>G mutation.@*CONCLUSION@#The incidence of GJB2 gene and PDS IVS7-2A>G mutations among the deaf- mute children in Guiyang city is 38.10%. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.

An Epidemiologic Study of Hearing Impairment of children under 14 Years Old in Guizhou Province / 听力学及言语疾病杂志

Objective To undertake a survey on the prevalence, pathogenic factors and treatment needs of hearing impairment in children under 14 years old in Guizhou province. Methods Using the probability proportion to size (PPS) method, 2 068 children aged 0～14 years were included in the study and in 30 clusters in Guizhou province based on the WHO protocol. Results For children aged 0～14 years, the prevalence of hearing impairment was 3.48% and the prevalence of hearing disability was 1.84 %. There were statistically differences of the prevalence of hearing disability between children aged 7～ 14 years (2.66 %) and 0～ 6 years (0. 51%), and the differences also in hearing impairment between male children (4.22%) and female children (2.54%). The main causes of hearing impairment were ear diseases (50.00%), non-infective conditions (11.11%), genetic conditions (20.83 %) and unknown causes (27. 77%). 3. 58% of all subjects needed medical or surgical treatment and 2. 32% needed hearing aids. Conolusion The prevalence of hearing disability of children under 14 years old in Guizhou province was higher than that of other cities. The main cause of the hearing impairment of children was otitis media with hereditary deafness also ranked in top.

Report on the study of who ear and hearing disorders survey protocol in Guizhou province / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To undertake a population-based survey on the prevalence, pathogenic factors and medical requirements of ear and hearing impairment.@*METHOD@#Using the probability proportion to size (PPS) method, 6626 residents were investigated in 30 clusters with the WHO protocol.@*RESULT@#The prevalence of hearing impairment was 17.1% (the standardized rate: 17.6% in the whole country). Degrees of hearing impairment were mild (11.0%), moderate (4.2%), severe (1.4%), and profound (0.5%). Among them, male were 663(20.2%) and female were 468 (14.0%). The prevalence of hearing disability was 6.1% (the standardized rate: 6.5% in the whole country). The causes of hearing impairment were ear disorders (31.4%), non-infectious (42. 5%), genetic condino (6.7%), infectious disease (0.4%) and undetermined cause (29.3%). 13.8% of person needed otology and/or audiology actions. 9.1% of person needed hearing aid.@*CONCLUSION@#The prevalence of hearing impairment and hearing disability is higher than last twenty years and it can provide scientific data for drawing up precaution and control strategies on deafness for government.

Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic mechanism of maternal nonsyndromic inherited sensorineural hearing loss(SNHL), to identify the incidence of the 7445(G) mutation in such pedigrees and sporadic patients with SNHL, and to provide the theoretical evidence for the diagnosis of this disease.</p><p><b>METHODS</b>Blood samples were obtained from 2 pedigrees and 14 sporadic patients with SNHL. DNA was extracted from the isolated leukocytes. The mitochondrial DNA (mtDNA) fragments were amplified by PCR. The 1555(G), 3243(G) and 7445(G) mutation was detected by Alw 26 I, Apa I and Xba I restriction endonuclease digestion respectively. The sequence of 12S rRNA, tRNA(Leu(UUR)) and tRNA(Ser(UCN)) was examined.</p><p><b>RESULTS</b>Restriction endonuclease digestion analysis showed that 12 individuals from 2 pedigrees carried homoplasmic 7445(G) mutation, which was of maternal inheritance. Six individuals from 2 pedigrees and 14 sporadic patients did not have 7445(G) mutation. All individuals did not have 1555(G) and 3243(G) mutation. The sequence analysis further showed that none of them carried homoplasmic 1555(G) and 3243(G) mutation, 12 individuals had (nt)7445 A--> G substitution in tRNA(Ser(UCN)) gene.</p><p><b>CONCLUSION</b>The incidence of 7445(G) mutation in such pedigrees is higher than that in sporadic patients. Screening for mtDNA 7445(G) mutation combined with 1555(G) examination is of much value to clinical use.</p>

Ethical Reflection on the Over-treatment on Hypertension / 中国医学伦理学

The over-treatment on hypertension is harmful,thus we should attach enough importance to the counteraction.