Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL).@*METHODS@#Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.@*CONCLUSION@#Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.

The Characteristics of Auditory Event-related Potential in Presbycusis Patients / 听力学及言语疾病杂志

Objective To investigate the characteristics of auditory event-related potentials(AERP) mismatch negativity and P300 in presbycusis patients.Methods Auditory event-related potentials were recorded from 20 presbycusis patients, 20 normal hearing elderly subjects and 20 normal young volunteers(the control group) in the Oddball stimulus paradigm.Mismatch negativity(MMN) was tested under the status of reading.P300 was tested under the status of concentrating.The latencies and amplitudes of 3 groups were compared.Results The latency of MMN in the presbycusis patient group(187.38±29.63ms) was significantly longer than those of the normal hearing older group(160.10±23.21±ms)and the control group(148.22±19.30 ms)(P0.05).The latency of P300 in the presbycusis patient group (369.83±27.09 ms) was significantly longer than those of the normal hearing older group(332.89±25.60 ms)and the control group(318.51±22.32ms)(P0.05).Conclusion The presbycusis patients show some central auditory processing dysfunction and cognitive impairment.MMN and P300 might be used as objective methods for evaluating central auditory processing and cognitive function in presbycusis patients.

Diffusion tensor imaging of the central auditory system in the elderly / 临床耳鼻咽喉头颈外科杂志

Objective:To evaluate the changes in the central auditory system of presbycusis by applying auditury brainstem response (ABR) and diffusion tensor imaging (DTI). Method:A total of twenty-five elderly subjects with expressed presbycusis, eight elderly subjects with normal hearing and fifteen healthy volunteers as young controls were enrolled in the study. Each participant was examined using ABR and DTI. ABR measures were obtained from all the subjects. The fractional anisotropy (FA) was measured at two brain regions of the auditory pathway-the inferior colliculus (IC) and Heschl's gyrus. Result:Higher FA values were recorded at the left side of the Heschl's gyrus in all three groups (P<0.05). There were no significant differences between the left and right side of the ABR results and FA values of inferior colliculus in the three groups (P>0.05). Aging increased ABR peak latencies, yet did not change the Ⅰ-Ⅴ interpeak latency interval. Comparing with the elderly subjects with normal hearing group, the wave Ⅴ latencies of the presbycusis group were prolonged (P<0.05). Comparing with the healthy control group, the FA values of the IC were reduced in both of the elderly subjects with normal hearing group and the presbycusis group (P<0.05). No statistically differences were observed between the presbycusis group and the elderly subjects with normal hearing group in the FA values of the IC (P>0.05). Significant differences between all groups were found in the FA values of the Heschl's gyrus, with higher values in the elderly subjects with normal hearing group than in the presbycusis group and even higher values in the healthy control group than in the elderly subjects with normal hearing group (P<0.05). Conclusion:The results indicated that the age-related microstructural changes exist in the central part of the auditory system, which are more obvious in the patients with presbycusis.

The value of otolith function test in the prognosis of sudden sensorineural hearing / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To evaluate the characteristics and prognosis of sudden sensorineural hearing loss through vestibular evoked myogenic potentials.@*METHOD@#Fifty patients with unilateral sudden hearing loss underwent an ear test battery, including audiometry, cervical vestibular evoked myogenic potential (cVEMP) and ocular vestibular evoked myogenic potential(oVEMP). The cVEMP and oVEMP in patients with sudden sensorineural hearing loss were investigated. Their associations with initial hearing threshold, the type of audiogram, the results of coloric test and hearing recovery were also accessed.@*RESULT@#After one-month treatment, the average threshold declined significantly in affected ears, with normal VEMP rates improved significantly (P < 0.05). Initial hearing threshold and hearing recovery were significantly associated with the results of coloric test and the results of VEMP test (P < 0.05).@*CONCLUSION@#Our study indicated that vestibular evoked myogenic potential examination was not only a useful additional diagnostic tool in the neurotological evaluation of patients suffering sudden hearing loss, but also very valuable in the prognosis of sudden sensorineural hearing loss.

The Effects of Different in Nontarget Stimulus Intensity on Auditory Event-related Potential P300 / 听力学及言语疾病杂志

Objective To compare the latency and amplitude of normal subject's auditory event -related po‐tentials(AERP) via P300 evoked by same target stimulation and different intensitve non target stimulation ,and to explore the appropriate intensity of target and nontarget stimulus which evoke typical P300 at the same frequency . Methods A total of 20 normal young volunteers were induced in this study .Each subject received 3 AERP tests , respectively by the same tone burst target stimulus(60 dB nHL ,1 kHz) and different intensity levels for the non target stimulus(50 ,65 ,70 dB nHL ,and 1 kHz) ,and the latency and amplitude of 3 group's P300 were compared . Results In all cases ,P300 was successfully induced .The latencies of 3 group's P300 were 316 .25 ± 21 .16 ms , 320 .83 ± 22 .64 ms ,318 .44 ± 25 .82 ms (P>0 .05) ,respectively and the amplitudes of 3 group's P300 were 5 .02 ± 2 .04 μV ,7 .42 ± 2 .58 μV ,3 .54 ± 2 .23 μV (P<0 .01) ,respectively .The amplitude of the moderate intensity group was greater than the high intensity group and low intensity group ,and the amplitude differences were not statistical‐ly significant between the high and the low intensity groups .Conclusion Different intensity levels of nontarget stim‐ulus do not affect the latency of P300 ,but significantly affect the amplitude .Along with the decreasing of the inten‐sity difference of target and nontarget stimula ,the P300 amplitude raise gradually .A typical P300 is induced at the same frequency when the target stimuli and non target stimuli are 60 dB nHL and 65 dB nHL respectively .

Correlation of diffusion tensor imaging between the cerebral cortex and speech discrimination in presbycusis / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the relationship between pure-tone average (PTA), the fractional anisotropy (FA) of the auditory pathway, cognitive cortex and auditory cortex in presbycusis.@*METHOD@#Twenty-five elderly subjects with presbycusis were participated in the study. PTA, speech discrimination abilities were evaluated in each subject. Diffusion tensor imaging (DTI) was applied to access the FA of the IC, the superior frontal gyrus and the Heschl's gyrus. Compare the difference between two sides of the values of FA in the three areas. Bivariate correlation analysis was performed to evaluate the effects of PTA and FA of the inferior colliculus (IC), the superior frontal gyrus and the Heschl's gyrus on speech discrimination abilities.@*RESULT@#There were no significant differences between the left and right side of the inferior colliculus (P > 0.05). Higher FA values were recorded at the left side of the Heschl's gyrus and the superior frontal gyrus (P < 0.05). Both PTA and the FA of the superior frontal gyrus have a negative association with speech discrimination abilities (P < 0.01, P < 0.05), while the FA of the Heschl's gyrus has a positive association with speech discrimination abilities (P < 0.05).@*CONCLUSION@#Our findings indicated that the speech discrimination abilities of the elderly is not only related to the peripheral auditory function, but also to the central auditory and cognitive function.

The distribution of bacteria strains isolated from urine samples of pregnant women and drug sensitivity analysis / 国际检验医学杂志

Objective To investigate the distribution characteristics and drug resistance of pathogens isolated from pregnant woman′s urine samples.Methods The urine samples of pregnant women who underwent prenatal examination were collected and cultured.VITEK2 automatic bacterial analyzer was used to identify the bacteria strains,and Escherichia coli ,Streptococcus agalac-tiae were tested for their drug susceptibility.Results The positive rates of urine culture were 4.4%和 3.8% respectively in 2011 and 2012.The top 5 most isolated strains were Escherichia coli ,S .agalactiae ,Enterococcus faecalis ,K .pneumoniae and Propeus vulgaris .In 2011 and 2012,the resistance rates of Escherichia coli to ampicillin and piperacillin was more than 50%,ESBLs-produ-cing rate in Escherichia coli had decreased in 2012 than 2011,the resistance rates of S.agalactiae to erythromycin and clindamycin were more than 30%.Conclusion Escherichia coli accounted for the largest proportion in the strains isolated from urine samples of pregnant women,The pathogen of urinary tract infection in pregnant women are still mainly Gram-negative bacteria(Escherichia co-li),the main pathogens common antibiotics are varying degrees of resistance,pathogens all display common drug resistance of var-ying degrees.

Mutational analysis of candidate genes in a Chinese pedigree with dominantly inherited auditory neuropathy / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#Three genes including the OTOF, the DFNB59 and the DIAPH3 have been implicated previously in human non-syndromic auditory neuropathy. In this study, we aim to investigate whether DIAPH3 gene or the known deafness loci of 25 cloned autosomal dominant deafness (DFNA) genes contribute to the nonsyndromic hearing loss of a Chinese pedigree with dominantly inherited auditory neuropathy (AN).@*METHOD@#Nine members of the kernal pedigree in this family were selected. Genomic DNA was isolated from the peripheral leukocytes of the subjects using the Puregene DNA Isolation Kits. Firstly, the 5'UTR of DIAPH3 gene was PCR amplified in all subjects. Then, the DNA fragments spanning the entire coding regions of DIAPH3, GJB2 and GJB3 genes, and 50 exons in other 23 cloned DFNA genes were amplified using specific primers. Each fragment was purified and analyzed by direct sequencing. The resultant sequence data were compared with the standard sequence to identify deafness-associated mutations.@*RESULT@#PCR amplifications were successfully conducted. We failed to detect the presence either of c. --172G > A mutation in the 5'UTR that have been reported, or any other deafness-associated mutations in the whole DIAPH3 gene, by sequence analysis. We also did not find any known deafness-causing mutations among the 25 cloned DFNA genes.@*CONCLUSION@#The DIAPH3 gene, and the known deafness loci of 25 cloned DFNA genes seem not contribute to the pathogenesis of this Chinese AN family in this study, which suggesting new gene(s) involvement.