Screening for hotspot mutations associated with genetic hearing impairment in pregnant women and subsequent prenatal diagnosis in high risk pregnancies / 中华耳鼻咽喉头颈外科杂志

Objective@#To screen for hotspot gene mutations associated with genetic deafness in Chinese pregnant women, and to perform risk assessment and prenatal diagnosis in high-risk families.@*Methods@#Between November 2012 and October 2017, 26 117 pregnant women were screened by molecular hybridization microarray for 9 hot-spot mutations in 4 hereditary deafness related genes (GJB2 c. 35 del G, c. 176_191 del 16 bp, c. 235 del G, c. 299_300 del AT, GJB3 c. 538 C>T, SLC26A4 c. 2168 A>G, IVS 7-2 A>G, mitochondrial DNA 12S rRNA m. 1494 C>T, m. 1555 A>G). Genotype analysis was carried out in husbands of women carrying mutations, and prenatal diagnosis was carried out in the fetuses with high risk of deafness.@*Results@#Among all women tested, 1 208(4.63%) were carriers of genetic deafness mutations, 7 with hearing impairment were affected by homozygous or compound heterozygous mutations, 51 were mitochondrial gene mutation carriers, 103 were carriers of GJB3 c. 538 C>T heterozygous mutation, 1 026 were carriers of GJB2 or SLC26A4 heterozygous mutations, and 21 carried heterozygous mutations in two genes simultaneously. In 394 families, the husbands accepted gene sequence testing, and 27 in which were determined as carriers of mutations in identical genes as their wives. Among which, 18 families received prenatal diagnosis, and 5 fetuses were diagnosed as hereditary deafness. In 9 families who did not receive prenatal diagnosis, 1 neonate was diagnosed as compound heterozygote after delivery.@*Conclusion@#In order to prevent birth defects with congenital hearing problems, it is effective to provide screening for hotspot mutations in pregnant women and to perform prenatal diagnosis on high risk pregnancies.

Distrbution and risk factors analysis of infections caused by extended-spectrum β-lactamase-producing Escherichia coli / 国际检验医学杂志

Objective To analyze the specimen types,ward distribution and risk factors for infections caused by extended-spectrum β-lactamase(ESBLs)-producing-Escherichia coli(ECO) in recent two years,so as to provide bacteriological basis for both hospital infection control and clinical anti-infection treatment.Methods Non-repetitive 443 ECO strains isolated from the hospitalized patients in the Third People′s Hospital of Shenzhen were collcted,and the phoenix100 system was employed for bacterial identification and antimicrobial susceptibility tests.ESBLs-ECO was further confirmed by the double-disk synergy test,and the risk factors caused ESBLs-ECO were statistically analyzed.Results A total of 115 strains of ESBLs-ECO were identified among the 443 strains of ECO,which accounted for 26.0%.The ESBLs-ECO strains were mainly isolated from the sputum,urine,and blood specimens.Among the isolated ESBLs-ECO strains,20.9% were isolated from the department of Tuberculosis,13.9% from the department of pediatric,12.2% from the department of live disease,and 8.7% from the department of infection.The male sex,surgery and use of the third generation cephalosporins were independent risk factors of ESBLs-ECO infection.Conclusion The isolation rate of ESBLs-ECO in this hospital is high.It is necessary for the hospital to strengthen the control of nosocomial infections according to the risk factors.More attention should be payed on male patients,the standardization of surgical operation and disinfection,and the restriction of using the third generation cephalosporins,so as to reduce the incidene of ESBLs-ECO infections.

The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#Mutations in the GJB2 are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. This study analysised the GJB2 dominant mutation in Chinese deafness.@*METHOD@#1641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed the hearing level and other systerm lesion.@*RESULT@#Nine probands with severe-profound hearing loss were diagnosed as GJB2 domiant mutation (R75W,G130V, R143Q,p. R184Q). And one patient with R75W mutation was diagosed as hearing loss and palmoplantar keratoderma.@*CONCLUSION@#GJB2 dominant mutation can cause severe-to-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.

Assessment of the curative effective of cochlear implantation in childer with GJB2-associated NSSNHL / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the curative effect of CI in children with GJB2-associated NSSNHL.@*METHOD@#The evaluations of curative effect with CI include auditory threshold, IT-MAIS/MAIS, CAP, SIR. MESP. The outcomes of 40 cases with GJB2-associated NSSNHI, were compared 80 patients with negative results of screening of gene mutation (control group).@*RESULT@#In comparison with control group the auditory threshold in children with GJB2-associated NSSNIL is better, however had no significant difference in other tests (P > 0.05).@*CONCLUSION@#CI could he performed on children with GJB2-associated NSSNHL. Postoperative outcomes of hearing and speech were satisfied.

Relationship between resting heart rate and carotid artery structure in young hypertensive patients / 中华流行病学杂志

Objective To investigate the relationship between resting heart rate (RHR)and carotid artery structure in young hypertensive patients.Methods A total of 663 primary hypertensive patients aged between 18 and 45 (38.01 ± 5.78) were chosen from the First Affiliated Hospital of Xinjiang Medical University from January,2009 to January,2012.Patients under this study were divided into three groups according to their RHRs:group A (RHR＜70 bpm,n=163),group B(70 bpm≤RHR＜80 bpm,n=268),group C (RHR≥80 bpm,n=232).Data on bilateral carotid artery intima-media thickness,common carotid artery diameter were detected by carotid ultra-sonography.Indexes of carotid artery were analyzed by both variance and bi-variate correlation analysis.Results 1)Differences in the blood pressure among three groups showed statistical significance (P＜0.01),with diastolic pressure in group A higher than in group B (P＜0.05),while both systolic and diastolic pressure in group C higher than in group B (P＜0.01).2)In group A,the right carotid artery diameter was higher than in group C(P＜0.05) and the left carotid artery diameter higher than in group B(P＜ 0.05) with the left carotid artery diameter higher than in group C (P＜0.05).3) Significant positive correlations were found between RHR and blood pressure (r =0.112,0.118) and negative correlation between RHR and left carotid artery diameter (r=-0.89).However,correlation between RHR and right carotid artery diameter was not significant (r=-0.075,P=0.068).Conclusion When blood pressure had an increase,we found that the carotid artery diameter was decreasing along with the increasing RHR among the young hypertensive patients.

Audiological Characteristics in 832 Deaf Children with Biallelic Causative Mutations in GJB2,SLC26A4 Gene / 听力学及言语疾病杂志

Objective To determine the audiological characteristics in 832 deaf children with biallelic causative mutations in GJB2 ,SLC26A4 gene .Methods The 832 patients received deafness gene screening ,553 were GJB2 gene biallelic causative mutations ,279 were SLC26A4 gene biallelic causative mutations .Patients were divided into four groups according to ages of hearing loss onset :<1 ,1~3 ,3~6 ,6~12 years old ,and the audiological character-istics and prevalence of GJB2 ,SLC26A4 gene mutations at different ages of onset .Results The prevalence of GJB2 gene mutations at four groups was 37 .97% (210/553) ,38 .34% (212/553) ,16 .27% (90/553) ,7 .41% (41/553) ,re-spectively ;the prevalence of SLC26A4 gene mutations at four groups was 25 .45% (71/279) ,44 .80% (125/279) , 20 .07% (56/279) ,9 .67% (27/279) ,respectively .The difference between GJB2 and SLC26A4 gene was significant(P=0 .001) .The prevalence of profound hearing loss with GJB2 gene mutations at four groups were 66 .67% (140/210) ,61 .32% (130/212) ,47 .78% (43/90) ,41 .46% (17/41) ,respectively .The difference was significant (P=0 .004) ,while the difference in 279 patients with SLC26A4 gene mutations was not statistically significant (P= 0 . 083) .Conclusion The age of hearing loss onset in patients with biallelic causative mutations in GJB 2 or SLC26A4 gene refers to 0~3 years -old ,hearing loss in patients with GJB2 ,SLC26A4 gene mutations gives priority to pro-found .The age of hearing loss onset is smaller ,the ratio of profound hearing loss is higher .Patients with severe and profound hearing impairment should be performed the genetic testing when the age of onset under 12 .

Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the positive rate of common genetic mutations in Chinese non-syndromic sensorineural hearing loss groups with different hearing phenotype.@*METHOD@#One thousand four hundred and forty-eight subjects with hearing test results received at least one of three genetic testings including: mutations in coding region of GJB2 and SLC26A4 with sequencing analysis and mitochondrial DNA C1494T/A1555G with microarray detection. Of 1448 subjects, 1333 have bilateral sensorineural hearing loss, 65 have unilateral hearing loss and 50 have normal hearing threshold even though they have high frequency hearing loss or family history. The informed consent of each subject was achieved.@*RESULT@#Mutation positive rate of GJB2, SLC26A4 and mtDNA C1494T/ A1555G of 1448 subjects were 19.23%, 27.55%, 0.1% and 1.72% respectively. The positive rate of GJB2 and SLC26A4 mutations in bilateral hearing loss group (20.22%, 29.17%) was statistically significantly higher than unilateral group (0, 0) (P < 0.01). In bilateral hearing loss group, the positive rate of GJB2 mutations was highest in the profound group (24.67%), and then severe (22.33%), moderate (14.33%) and mild group (6.58%) (P < 0.01). The positive rate of SLC26A4 mutations was highest in the severe group (48.67%), and then profound (28.42%), moderate (21.16%) and mild (8.93%) (P < 0.01).@*CONCLUSION@#The positive rate of GJB2 and SLC26A4 mutations is high in the groups with bilateral profound and severe sensorineural hearing loss, whose genetic testing should be put emphasis on. However, the genetic testing should be performed in patients with mild to moderate hearing impairment as well if necessary.