Objective:To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations.Method:DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang.Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss. The coding region of GJB2 gene, SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR).Mutations in GJB2 gene, SLC26A4IVS7-2 A>G, mtDNA 1494C>T and mtDNA1555 A>G were identified by sequencing analysis.Result:Allelic Frequency of the GJB2 35delG and SLC26A4IVS7-2 A>G mutations in Han deaf students were 7.4%and 10.1%,respectively, whereas not found in Uigur deaf groups.The difference was statistically significant. We did not find significant differences in GJB2 235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students.Conclusion:Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.

Objective To discuss the tympanic membrane puncture or tympanostomy tube under endotoscope combined with adenoidectomy under nasal endoscopy on the influence of invalid conservative treatment of pediatric secretory otitis media.Methods A total of 112 cases of secretory otitis media with invalid conservative treatment were selected in the department of otorhinolaryngology of children′s hospital of Nanjing Medical University from July 2013 to August 2015.They were divided into three groups,the group A of 38 cases(68 ears)underwent transnasal endoscopic pure adenoidectomy;the group B of 37 cases(60 ears)underwent transnasal endoscopic adenoidectomy combined with tympanocentesis;the group C of 37 cases(59 ears)underwent tympanostomy tube insertion.The clinical treatment effect,the period of middle ear effusion,postoperative recurrence and complication were observed and compared.Results The total effective rate of the 3 groups was improved after 3 months(P<0.05);the total effective rate in group B and group C at one week and 3 months after operation were higher than those of group A(P<0.05);and the total effective rate in group C at 3 months after operation was significantly higher than that of group B(P<0.05).The level of auditory brainstem evoked potential(ABR)and the latency of ABR wave Ⅰ latency were decreased at 1 year after operation(P<0.05);the ABR changes in group B and group C at 1 week and 1 year after operation were lower than those in group A(P<0.05).The incidence of recurrence rate and the period of middle ear effusion in group C were lower than those in group A and B(P<0.05).The incidence of complication of group A was lower than those of group B and group C(P<0.05).Conclusion Using tympanostomy tube combined with adenoidectomy under endoscope can improve the children with hearing,which not only can shorten the time of the middle ear effusion,but also effectively reduce the recurrence rate.

Objective To investigate the multi-slice spiral CT characteristics of inner ear in child sensorineural deafness and its application analysis.Methods A total of 41 children patients(82 ears) with sensory deafness treated in this hospital from March 5,2016 to March 5,2017 were selected.The screening test was adopted to observe the accuracy rate of multi-slice spiral CT and monolayer spiral CT for diagnosing the inner ear malformation.The inner ear characteristics in child sensorineural deafness revealed by multi-slice spiral CT were observed.Results The sensitivity of multi-slice spiral CT for diagnosing child sensorineural deafness was 87.72 ％,the specificity was 80.00 ％ and the Gordon index was 0.68;the diagnostic sensitivity and specificity in the single-slice spiral CT were 59.65 ％ and 68.00 ％ respectively,the Gordon index 0.28;the sensitivity of the multi-slice spiral CT group was significantly higher than that of the single-slice spiral CT group,the difference was statistically significant(x2 =4.31,P＜ 0.05).The multi-slice spiral CT results showed 36 cases(63.2 ％) of vestibular aqueduct abnormalities,which were significantly higher than 16 cases (28.1％) of cochlear deformity,vestibular deformity in 18 cases (31.6 ％),semicircular canal deformity in 22 cases(38.6％) and inner ear canal deformity in 16 cases(28.1 ％),the differences were statistically significant(x2 =21.11,P＜0.05).Coclusion Multi-slice spiral CT can more completely display the inner ear deformity structure to provide more comprehensive and accurate diagnostic information.

OBJECTIVE: To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations. METHOD: DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang. Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss. The coding region of GJB2 gene, SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). Mutations in GJB2 gene, SLC26A4IVS7-2 A>G, mtDNA 1494C>T and mtDNA1555 A>G were identified by sequencing analysis. RESULT: Allelic Frequency of the GJB2 35delG and SLC26A4IVS7-2 A>G mutations in Han deaf students were 7.4% and 10.1%, respectively, whereas not found in Uigur deaf groups. The difference was statistically significant. We did not find significant differences in GJB2 235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students. CONCLUSION Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.
Adolescent ; Asian Continental Ancestry Group ; genetics ; Child ; China ; ethnology ; Connexin 26 ; Connexins ; genetics ; DNA, Mitochondrial ; genetics ; Deafness ; ethnology ; genetics ; Ethnic Groups ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Persons With Hearing Impairments ; Polymorphism, Genetic ; Sulfate Transporters ; Young Adult

OBJECTIVE: To develop a molecular genetic assay to detect the GJB2 235 delC and mtDNA A1555G mutations simultaneously based on fluorescent labeled multiplex PCR and automatic DNA fragment analyzing techniques. METHOD: One hundred and twenty samples were pooled in our experiment to test the feasibility of new method. The PCRs were performed and the size fragment of PCR products were analyzed on ABI 3100 Genetic Analyzer. Data analysis were taken using the software package of GeneScan and GeneMarker. RESULT: Seventeen samples of DNA with 235 delC and 17 samples with A1555G were tested using this protocol. A false-positive sample without GJB2 235 delC mutation was tested. CONCLUSION This assay can detect both mutations in pooled DNA tests and will be a useful tool for newborn screening and carrier screening for the hereditary hearing loss in Chinese population.
Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Genetic Testing ; methods ; Hearing Loss ; diagnosis ; genetics ; Heterozygote ; Humans ; Mutation ; Polymerase Chain Reaction ; methods

OBJECTIVE: To investigate the frequencies of SLC26A4 hot spot mutations by genetic testing method in non-syndromic hearing loss children. The feasibility of genetic screening method in finding enlarged vestibular aqueduct syndrome was confirmed by temporal bone CT scan. METHOD: Ninety-two children with moderate-profound hearing loss were enrolled and DNA were extracted from peripheral blood. SLC26A4 IVS7-2A > G and H723R mutations were analyzed by direct sequencing. The individual with homozygous, compound heterozygous or heterozygous SLC26A4 mutations was given further temporal CT scan. RESULT: The sequencing results revealed 11 (12.0%) cases carrying SLC26A4 mutations, including 5 cases of bi-allelic mutation and 6 cases of single allelic mutation. CONCLUSION The SLC26A4 mutations has a high carrying rate in non-syndromic hearing loss children. The screening for the SLC26A4 gene mutations is useful in the diagnosis of EVAS.
Adolescent ; Child ; Female ; Genetic Testing ; Hearing Loss ; genetics ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Sulfate Transporters ; Syndrome ; Vestibular Aqueduct

Objective To investigate the risk factors of repeated episodes of child otitis media with effusion(OME).Methods One hundred and twenty-one children cases of repeated OME within 1 year in the Affiliated Children's Hospital of Nanjing Medical University from February 2013 to August 2015 were selected as the repeated group and contemporaneous 125 cases of non-repeated OME were selected as the control group.The repeated OME related factors were performed the univariate and multivariate analysis.Furthermore the occurrence rates of main risk factors and annual onset frequency of nasal disease were compared among different age groups.Results The Logistic multivariate regression analysis results indicated that younger age,allergic rhinitis,recurrent upper respiratory tract infections,tonsil hypertrophy Ⅳ°,adenoid hypertrophy Ⅲ °and Ⅳ ° and poor mastoid gasification were major risk factors for recurrence of OME.The incidence rate of repeated upper respiratory tract infections in the 3-＜7 years old group and ＜3 years old group was obviously higher than that in the7-14 years old group(P＜0.05),adenoid hypertrophy in the ＜3 years old group and 7-14 years old group was lower than that in the 3-＜7 years old group(P＜0.05).The annual onset frequency of nasal disease in the repeated group was significantly higher than that in the control group(P=0.000).Conclusion Child OME is the results of multivariate factors combined action.The smaller the age,the more the annual onset frequency and the higher the possibility of OME repeated onset.

Objective: To evaluate the efficacy and safety of Saccharomyces boulardii in the prevention of antibiotic-associated diarrhea (AAD) in infants and young children. Method: From November 2012 to September 2013, ten research units of large teaching hospitals or children′s hospitals participated in this multicenter randomized controlled clinical trial. Hospitalized young children aged between 1 month and 3 years (nongastrointestinal infection and antibiotic therapy required)were involved in our study. The children were randomly divided into control group and prevention group by means of block random allocation method. The control group received antibiotic therapy and other conventional treatment. The prevention group was given additional Saccharomyces boulardii (250 mg/d) orally. Diarrhea rates of two groups were compared both during the usage of antibiotics and within 14 days after the antibiotics withdrawal. The adverse reactions of Saccharomyces boulardii were observed all through this study. The results were analyzed by χ² test or Kruskal-Wallis test or t test. Result: Totally 408 cases (213 cases in prevention group and 195 cases in control group) were enrolled. The age ranged from 1 month to 3 years, with an average age of 1.14 years. The basic diseases were parenteral infections: 368 cases with different kinds of respiratory tract infections or pneumonia, 10 cases of bacterial meningitis, 9 cases with septicemia or sepsis, 6 cases with pertussis or pertussis like syndrome, 5 cases with urinary infection, 5 cases with skin or subcutaneous tissue infections, 3 cases of Kawasaki disease, one with scarlet fever and one with congenital syphilis. During the administration of antibiotics, the incidence of AAD in prevention group was 10.3% (22 cases), which was significantly lower than that of control group (57 cases, 29.2%, χ²=23.296, P<0.05). Within 14 days after the discontinuation of antibiotics, the percent of new diarrhea cases in prevention group (2.4%, 5/213) was also significantly lower than that in control group (16.4%, 32/195, χ²=23.4, P<0.05). Further analysis revealed that the rate of AAD in children less than or equal to 1 year old (25.1%, 52/207) was significantly higher than that of over 1 year old (13.4%, 27/201, χ²=8.922, P<0.05). The incidence of AAD in children treated with antibiotics for more than 5 days was 22.2%(60/270), which was significantly higher than that of less than or equal to 5 days (13.8%, 19/138, χ²=4.180, P<0.05). Although no significant difference was observed, the AAD rate of patients with combined use of two antibiotics was higher than that of using one. During the antibiotic therapy, compared with the control group, the risk of AAD in children under 1 year old was reduced by 52% (χ²=9.217, P<0.05), and 91% (χ²=20.35, P<0.05) in the children over 1 year old in prevention group. The risk of AAD of prevention group decreased by 66% (χ²=13.67, P<0.05) in patients treated with one antibiotics, and 65% in children with combined use of antibiotics (χ²=10.57, P<0.05). In patients treated with antibiotics for less than or equal to 5 days, the risk of AAD decreased by 74% in prevention group (χ²=7.38, P<0.05); and 63% if the course lasted for over 5 days (χ²=16.87, P<0.05). Within 14 days after the withdrawal of antibiotics, compared with the control group, the risk of diarrhea in the prevention group decreased by 82% (χ²=13.35, P<0.05) in infants (≤1 year old) and 93% (χ²=12.00, P<0.05) in children (>1 year old); the risk of diarrhea was reduced by 86% (χ²=9.57, P<0.05) and 87% (χ²=17.71, P<0.05) respectively in prevention group with single and combined use of antibiotics. In patients treated with antibiotics for more than 5 days, the risk of diarrhea in prevention group was reduced by 63% (χ²=22.79, P<0.05), while there was no significant difference if the antibiotics course was less than or equal to 5 days (χ²=2.97, P>0.05). No adverse effects related with Saccharomyces boulardii were observed in our study. Conclusion Saccharomyces boulardii is effective and safe to prevent AAD of infants and young children both during the usage of antibiotics and up to 14 days after drug discontinuance. It can be one of the drugs of for choice prevention of AAD in infants and young children. Trial registration Chinese Clinical Trial Tegister, ChiECRCT-2012-25.