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Hearing Disorders: HELP
Articles by Yue Qi
Based on 15 articles published since 2009
(Why 15 articles?)

Between 2009 and 2019, Yu Qi wrote the following 15 articles about Hearing Disorders.
+ Citations + Abstracts
1 Article Analysing use of the Chinese HHIE-S for hearing screening of elderly in a northeastern industrial area of China. 2017

Wang, Yue / Mo, Lingyan / Li, Yagang / Zheng, Zhongwei / Qi, Yu. ·a Hearing Loss Research Center of the Fourth Hospital Affiliated to Jilin University , Chang Chun , China and. · b Department of Otorhinolaryngology , Beijing United Family Hospital , Beijing , China. ·Int J Audiol · Pubmed #27951727.

ABSTRACT: OBJECTIVE: The aim of the present study was to investigate the use of Chinese version of HHIE-S as a hearing screening tool for the elderly in an industrial area in northeast China. DESIGN: Prevalence, sensitivity and specificity of Chinese version of HHIE-S were calculated. Factors that had impact on HHIE-S were analysed. STUDY SAMPLE: Five hundred and seventy Mandarin speaking participants, aged from 50 to 85 years were included. They were tested with pure tone audiometry and Chinese version of HHIE-S. RESULTS: The prevalence of hearing handicap was 55.3%. The sensitivity and specificity of HHIE-S were 84.5% and 58.3% respectively when the pass/fail criteria were set at PTA CONCLUSIONS: The Chinese version of HHIE-S contributes useful information to identifying hearing handicap and addressing the rehabilitative needs in the elderly in an industrial city in Mainland China.

2 Article Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 2016

Chen, Siqi / Dong, Cheng / Wang, Qi / Zhong, Zhen / Qi, Yu / Ke, Xiaomei / Liu, Yuhe. ·1 Department of Otolaryngology Head and Neck Surgery, Peking University First Hospital , Beijing, China . · 2 Laboratory Center, Peking University First Hospital , Beijing, China . ·Genet Test Mol Biomarkers · Pubmed #27610647.

ABSTRACT: AIMS: We attempted to identify the genetic epidemiology of hereditary hearing loss among the Chinese Han population using next-generation sequencing (NGS). MATERIALS AND METHODS: The entire length of the genes GJB2, SLC26A4, and GJB3, as well as exons of 57 additional candidate genes were sequenced from 116 individuals suffering from hearing loss. RESULTS: Thirty potentially causative mutations from these 60 genes were identified as the likely etiologies of hearing loss in 67 of the cases. In our study, SLC26A4 and GJB2 were the most frequently affected genes among the Chinese Han population with hearing loss. Collectively, they account for 52.8% of the cases, followed by MTRNR1, PCDH15, and TECTA. These data also illustrate that NGS can be used to identify rare alleles responsible for hereditary hearing loss: 22 of the 30 (73.3%) genes identified with mutations are rarely mutated in hereditary hearing loss and only account for 21.5% (42/195) of the total mutation frequency, explaining no more than 2% for each gene. These rarely mutated genes would be missed by conventional diagnostic sequencing approaches. CONCLUSIONS: NGS can be used effectively to identify both the common and rare genes causing hereditary hearing loss.

3 Article Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA. 2016

Xia, Chang-Yu / Liu, Yu / Liu, Hui / Zhang, Yan-Chun / Ma, Yi-Nan / Qi, Yu. ·Department of Central Laboratory, Peking University First Hospital, Beijing 100034, China. ·Chin Med J (Engl) · Pubmed #27503020.

ABSTRACT: BACKGROUND: Mitochondrial diseases are a group of energy metabolic disorders with multisystem involvements. Variable clinical features present a major challenge in pediatric diagnoses. We summarized the clinical spectrum of m.3243A>G mutation in Chinese pediatric patients, to define the common clinical manifestations and study the correlation between heteroplasmic degree of the mutation and clinical severity of the disease. METHODS: Clinical data of one-hundred pediatric patients with symptomatic mitochondrial disease harboring m.3243A>G mutation from 2007 to 2013 were retrospectively reviewed. Detection of m.3243A>G mutation ratio was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism. Correlation between m.3243A>G mutation ratio and age was evaluated. The differences in clinical symptom frequency of patients with low, middle, and high levels of mutation ratio were analyzed by Chi-square test. RESULTS: Sixty-six patients (66%) had suffered a delayed diagnosis for an average of 2 years. The most frequent symptoms were seizures (76%), short stature (73%), elevated plasma lactate (70%), abnormal magnetic resonance imaging/computed tomography (MRI/CT) changes (68%), vomiting (55%), decreased vision (52%), headache (50%), and muscle weakness (48%). The mutation ratio was correlated negatively with onset age (r = -0.470, P < 0.001). Myopathy was more frequent in patients with a high level of mutation ratio. However, patients with a low or middle level of m.3243A>G mutation ratio were more likely to suffer hearing loss, decreased vision, and gastrointestinal disturbance than patients with a high level of mutation ratio. CONCLUSIONS: Our study showed that half of Chinese pediatric patients with m.3243A>G mutation presented seizures, short stature, abnormal MRI/CT changes, elevated plasma lactate, vomiting, and headache. Pediatric patients with these recurrent symptoms should be considered for screening m.3243A>G mutation. Clinical manifestations and laboratory abnormalities should be carefully monitored in patients with this point mutation.

4 Article Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 2015

Gao, Juanjuan / Wang, Qi / Dong, Cheng / Chen, Siqi / Qi, Yu / Liu, Yuhe. ·Department of Otolaryngology, Head and Neck Surgery, Peking University First Hospital, Beijing, China. · Department of central laboratory, Peking University First Hospital, Beijing, China. ·PLoS One · Pubmed #26196677.

ABSTRACT: We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of eukaryotic genome replication. This missense variant is very likely to be the disease causing variant. It segregated with hearing loss in this pedigree, and was not found in the dbSNP database or databases of genomes and SNP in the Chinese population, in 76 patients with sporadic hearing loss, or in 145 normal individuals. We performed western blot and immunofluorescence to test the MCM2 protein expression in the cochlea of rats and guinea pigs, demonstrating that MCM2 was widely expressed in the cochlea and was also surprisingly expressed in the cytoplasm of terminally differentiated hair cells. We then transiently expressed the variant MCM2 cDNA in HEK293 cells, and found that these cells displayed a slight increase in apoptosis without any changes in proliferation or cell cycle, supporting the view that this variant is pathogenic. In summary, we have identified MCM2 as a novel gene responsible for nonsyndromic hearing loss of autosomal dominant inheritance in a Chinese family.

5 Article Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 2015

Zong, Liang / Guan, Jing / Ealy, Megan / Zhang, Qiujing / Wang, Dayong / Wang, Hongyang / Zhao, Yali / Shen, Zhirong / Campbell, Colleen A / Wang, Fengchao / Yang, Ju / Sun, Wei / Lan, Lan / Ding, Dalian / Xie, Linyi / Qi, Yue / Lou, Xin / Huang, Xusheng / Shi, Qiang / Chang, Suhua / Xiong, Wenping / Yin, Zifang / Yu, Ning / Zhao, Hui / Wang, Jun / Wang, Jing / Salvi, Richard J / Petit, Christine / Smith, Richard J H / Wang, Qiuju. ·Department of Otolaryngology-Head and Neck Surgery, Institute of Otolaryngology, PLA General Hospital, Beijing, China. · Molecular Otolaryngology and Renal Research Laboratories and the Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA Department of Otolaryngology-Head & Neck Surgery, Stanford University School of Medicine, Stanford, California, USA. · Department of Otolaryngology-Head and Neck Surgery, Institute of Otolaryngology, PLA General Hospital, Beijing, China Beijing Institute of Otorhinolaryngology, Beijing Tongren Hospital, Capital Medical University, Beijing, China. · National Institute of Biological Sciences, Beijing, China. · Molecular Otolaryngology and Renal Research Laboratories and the Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA. · Department of Communicative Disorders & Sciences, Center for Hearing and Deafness, University at Buffalo, Buffalo, New York, USA. · Department of Radiology, PLA General Hospital, Beijing, China. · Department of Neurology, PLA General Hospital, Beijing, China. · Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, China. · BGI-Shenzhen, Shenzhen, China. · Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Collège de France, Paris, France. ·J Med Genet · Pubmed #25986071.

ABSTRACT: BACKGROUND: Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. The X-linked form of the condition, AUNX1, has been mapped to Xq23-q27.3, although the causative gene has yet to be identified. METHODS: We performed whole-exome sequencing on DNA samples from the AUNX1 family and another small phenotypically similar but unrelated ANSD family. RESULTS: We identified two missense mutations in AIFM1 in these families: c.1352G>A (p.R451Q) in the AUNX1 family and c.1030C>T (p.L344F) in the second ANSD family. Mutation screening in a large cohort of 3 additional unrelated families and 93 sporadic cases with ANSD identified 9 more missense mutations in AIFM1. Bioinformatics analysis and expression studies support this gene as being causative of ANSD. CONCLUSIONS: Variants in AIFM1 gene are a common cause of familial and sporadic ANSD and provide insight into the expanded spectrum of AIFM1-associated diseases. The finding of cochlear nerve hypoplasia in some patients was AIFM1-related ANSD implies that MRI may be of value in localising the site of lesion and suggests that cochlea implantation in these patients may have limited success.

6 Article [The study of clinical characteristics of sudden sensorineural hearing loss patients with tinnitus]. 2015

Li, Qian / Ma, Xiaojuan / Wang, Dayong / Su, Qin / Wang, Hongyang / Lan, Lan / Han, Bing / Qi, Yue / Yin, Zifang / Wu, Ziming / Xue, Xijun / Wang, Qiuju. · ·Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · Pubmed #25966557.

ABSTRACT: OBJECTIVE: To analysis the characteristics of sudden sensorineural hearing loss (SSHL) patients with tinnitus, and explore the relationship of characteristics of tinnitus and audiology. METHOD: Patients diagnosed as SSHL with tinnitus were studied in the research. All patients' clinical features were analyzed, such as tinnitus frequency, pure tone audiometry, tinnitus, hearing loss degree, results of residual inhibition test. RESULT: Thirty cases were identified as mild degree hearing loss, 13 cases as moderate degree, 28 cases as severe degree and 34 cases as profound degree. And hearing impaired frequency of 13 cases was ascertained at low-frequency, 39 cases at middle-high-frequency, and 53 cases at full-range-frequency. The incidence of patients with low-frequency was about 41. 9% (44/105), and it was about 21. 9% (23/105) in those with middle-frequency. And it was 36. 2% (38/105) in cases of high-frequency tinnitus. The chi-square test show statistically significant differences between patients with the low-frequency, middle-frequency and high-frequency of the hearing loss (P<0. 05). In tinnitus residual inhibition test, positive rate of convergence type masking curve was about 72.0%, tinnitus separated type masking curve 20.0%, overlapping type was 57.9%, and the spacing type was 43.5%. There was a statistically significant difference among cases with different type masking curve (P<0. 05)with the spacing residual inhibition test positive rate. CONCLUSION: There are individual differences of clinical characteristics among SSHL patients with tinnitus. Tinnitus frequency is consistent with the frequency of hearing loss. Patients had the more serious the degree of hearing loss, who had more serious tinnitus grading. Cases with the converged type curve will be fit for tinnitus masking. Therefore, combining the tinnitus detection with the audiological tests, we could obtain the clinical characteristics of SSHL patients with tinnitus.

7 Article Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. 2015

Zhang, Qiu-Jing / Lan, Lan / Li, Na / Qi, Yue / Zong, Liang / Shi, Wei / Yu, Lan / Wang, Hui / Yang, Ju / Xie, Lin-Yi / Zhao, Feifan / Wang, Da-Yong / Han, Bing / Wang, Qiu-Ju. ·Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital , Beijing , China. ·Acta Otolaryngol · Pubmed #25631766.

ABSTRACT: CONCLUSION: To our knowledge, this is the first report of PJVK gene mutation in a Chinese non-syndromic sensorineural hearing loss (NSHL) family. Our data indicate that the PJVK gene contributes to hearing impairment in the Chinese population, but it is not a major cause. OBJECTIVE: To investigate the contribution of PJVK mutations to NSHL in the Chinese population. METHODS: We screened for the PJVK gene in a sample of 65 autosomal recessive NSHL families without GJB2, SLC26A4, or mitochondrial 12S rRNA gene mutations. Seven pairs of PCR primers were designed to amplify all of the exons and their flanking regions of the PJVK gene. The PCR products were sequenced and analyzed for identification of mutations. RESULTS: In all, we identified one novel frameshift mutation, c.930_931del AC (p.C312W fsX19), co-segregating with the phenotype in one consanguineous family with a prevalence of 1.5% (1/65). The p.C312W fsX19 mutation was just positioned in the zinc-fingers domain, which was important to the function of pejvakin, and resulted in a stop codon after 19 additional amino acids. It was not identified in the controls and was considered as the causative mutation of family 804566 with autosomal recessive, non-syndromic, prelingual sensorineural hearing impairment.

8 Article [The study of the pure tone audiometry characteristics and curative effect in sudden hearing loss patients with hypertension]. 2014

Li, Qian / Wang, Dayong / Wang, Hongyang / Lan, Lan / Han, Bing / Qi, Yue / Guan, Jing / Yin, Zifang / Wu, Ziming / Wang, Qiuju. · ·Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · Pubmed #26248453.

ABSTRACT: OBJECTIVE: To investigate the pure tone audiometry characteristics and curative effect in sudden hearing loss patients with hypertension. METHOD: One hundred and fifty-seven inpatients (168 ears) with hypertension suffered from sudden hearing loss were included in this study. We retrospectively analyzed the audiological index of these patients by comparing the pure tone audiometry (PTA) among patients in the aspects of gender, age, affected side, duration of hypertension, with or without inducement, concomitant symptoms and other combined diseases. The hearing threshold at different frequency was also compared, as well as the curative effect among patients with diverse audiological characteristics. RESULT: Of the contemporaneous sudden hearing loss patients (874 cases), the prevalence of hypertension was 17.96%, where the male ones accounted for. 28.69% (103/359) and the female ones accounted for 19.42% (54/278) respectively with statistically significant difference between genders (P < 0.01). The prevalence of hypertension in 34-44 years old group, 45-49 years old group, 60-69 years old group and over 70 years old group was 12.69% (25/197), 22.51% (70/311), 47.62% (40/84), 48.89% (22/45) respectively, which were statistically different (P < 0.01). The number of impaired ears with audiogram configuration characterized by rise type, downslope type, flat type and completely deafness type was 18 (10.71%), 61 (36.31%), 41 (24.40%), and 48 (28.57%), respectively. The decrease of hearing threshold in PTA were increasingly severe as the increasing impaired-frequency, and the difference of the degree of hearing impairment among these three types of frequencies was statistically significant (P < 0.01). The hearing threshold means of each frequency had no significant difference among patients with various gender, age and Cardiovascular Risk Stratification (P > 0.05). The hearing threshold means of each frequency of unilateral hearing loss patients was significantly higher than that of bilateral hearing loss patients (P < 0.05). The hearing threshold means at 125 Hz, 250 Hz, 500 Hz and 1 kHz showed significant difference among patients with different duration of hypertension (P < 0.05). The total effective rate of sudden hearing loss in patients with hypertension was significantly lower than that in the sudden hearing loss patients without hypertension (19.64%, 61.57% respectively, P < 0.01). The total effective rate presented significant difference among patients with different duration of hypertension and different Cardiovascular Risk Stratification (P < 0.05). CONCLUSION: The prevalence of sudden hearing loss in hypertension patients was higher in male than in female, which rose with age and combined disease. The hearing threshold means at mid-frequency and high-frequency were higher than that at low-frequency. The total effective rate of sudden hearing loss was relatively low in patients with hypertension. The longer the duration of hypertension and the higher the Cardiovascular Risk Stratification, the lower the total effective rate. Comprehensive understanding of audiological characteristics and hypertension condition plays a crucial role in type-specific treatment of sudden hearing loss.

9 Article [Analysis of characteristics of tinnitus in patients with auditory neuropathy spectrum disorder]. 2014

Wang, Hongyang / Qi, Yue / Guan, Jing / Lan, Lan / Xie, Linyi / Yu, Lan / Yin, Zifang / Zong, Liang / Wang, Dayong / Wang, Qiuju. · ·Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · Pubmed #26248443.

ABSTRACT: OBJECTIVE: To investigate the characteristics of tinnitus in patients with auditory neuropathy spec- trum disorder (ANSD). METHOD: This study recruited 14 ANSD patients with tinnitus. All the ANSD patients un- derwent detailed history taking, audiological examinations and assessments of tinnitus. This study analyzed the correlation of tinnitus status and hearing loss, and discussed the effects of sex, age, and the course of disease on tinnitus in ANSD patients. RESULT: (1) In the ANSD patients, tinnitus often occurred in 3 years after the onset of hearing loss; (2) Tinnitus was highly prevalent in ANSD patients, and the severity of tinnitus was mostly from mild to moderate; (3) There was no obvious correlation between the subjective grading of tinnitus and hearing loss de- gree, and the impact of curve patterns of hearing loss on the level of tinnitus need much more evidence-based proof; (4) Along with the course extension, the impact of tinnitus on the quality of life was much more obvious; (5) Some risk factors such as noise exposure could be the reasons of aggravating the degree of tinnitus. CONCLUSION: Tinnitus in ANSD patients has its unique clinical features. The study of Tinnitus in ANSD patients can provide clinical basis for further research in ANSD.

10 Article [The curative effect analysis of combined medical therapy for auditory neuropathy spectrum disorder]. 2014

Zhang, Jiao / Zhang, Qiujing / Wang, Dayong / Li, Qian / Lan, Lan / Li, Na / Qi, Yue / Yu, Lan / Shi, Wei / Wang, Qiuju. · ·Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · Pubmed #25007670.

ABSTRACT: OBJECTIVE: To investigate the efficacy of combined medical treatment on auditory neuropathy spectrum disorder and the effect of related factors on the prognosis. METHOD: Eleven cases (22 ears) diagnosed as auditory neuropathy spectrum disorder using multiple criteria including pure tone auditory threshold, impedance audiometry, acoustic reflexes, distortion products otoacoustic emission (DPOAE) and auditory brainstem response (ABR) were subjected to combined medical treatment . Eleven auditory neuropathy spectrum disorder patients diagnosed during the corresponding period but refused treatment were selected as control group. The change of pure tone auditory threshold and speech discrimination score after treatment or follow-up were evaluated for both 2 groups, and the relationship between the patients' gender, age, accompanying symptoms and curative effect were also analyzed. Data were analyzed by SPSS 19.0 statistical software using pared-sample t-test, independent-sample test and Pearson's chi-square test. RESULT: The effective rate of combined medical therapy was 59.09% (13/22) in the therapy group. PTA levels before and after-treatment were (53.92 +/- 18.86) dB HL and (47.44 +/- 14.98) dB HL respectively in 22 ears with the combined medical therapy, the improvement of which showed statistically significance (t = 5.20, P < 0.05). No obvious hearing change was noted in the 11 patients who refused therapy (P > 0.05). Speech discrimination score before and after-treatment were (29.20 +/- 25.80)% and (41.60 +/- 22.90)% respectively for the treatment group. The average improvement of speech discrimination score was (12.40 +/- 13.80)% with statistically significant difference (t = 4.02, P < 0.05). Patients accompanied with tinnitus had relatively poorer effect compared with individuals without tinnitus (t = -3.85, P < 0.05). Age is negatively correlated with the prognosis (r = -6.72, P < 0.05). Gender had no effect on the prognosis (P > 0.05). CONCLUSION: The combined medical therapy with glucocorticoids helps improving the pure tone auditory threshold and speech discrimination score of auditory neuropathy spectrum disorder. In light of our findings we support the combined medical therapy as an option for patients with auditory neuropathy spectrum disorder.

11 Article [Clinical analysis of in-patients with large vestibular aqueduct syndrome]. 2013

Wang, Dayong / Zhao, Yali / Zhao, Feifan / Zong, Liang / Han, Bing / Lan, Lan / Zhang, Qiujing / Qi, Yue / Wang, Qiuju. ·Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. ·Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · Pubmed #24417164.

ABSTRACT: OBJECTIVE: This study is to investigate the clinical materials of in-patients with the large vestibular aqueduct syndrome (LVAS), and explore the feature, diagnosis and treatment measures of the disease. METHOD: A retrospective review was conducted including the medical history, audiological examinations, vestibular function examinations, imaging examinations and treatment methods of 44 in patients (87 ears) suffering LVAS admitted to our hospital in the past 4 years(from 2008 to 2012). RESULT: ln the 44 in patients, there were 24 male cases and 20 female cases, and the male-female ratio was 1.2 :1. The average of the onset age was 3.39 years. Five cases (11. 36%) had related familial history. The profound hearing loss was found in 67 ears (77.01%), and the severe hearing loss was found in 20 ears (22.99%). After systemic treatment,the hearing of 38 ears improved effectively,but that of 49 ears did not improve obviously. The analysis found that patients suffering sudden hearing loss got better curative effect than those with progressive hearing loss. Patients received combined drug therapy improving arterial circulation as well as venous reflux got better therapeutic effect. There was a significant difference on effect between the patients with course of treatment more than 7 days and those less than 7 days. There was no significant correlation between therapeutic effect and other factors. CONCLUSION: In part of LVAS patients,the hearing level can be effectively improved through a standard internal medicine treatment. We can improve the personalized and standardized treatment strategy for this disease through analysis of diagnosis and treatment of in-patients with complete clinical data.

12 Article Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome. 2013

Zhao, Fei-Fan / Lan, Lan / Wang, Da-Yong / Han, Bing / Qi, Yue / Zhao, Yali / Zong, Liang / Li, Qian / Wang, Qiu-Ju. ·Department of Otorhinolaryngology/Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital , Beijing , China. ·Acta Otolaryngol · Pubmed #24245694.

ABSTRACT: CONCLUSION: In children with enlarged vestibular aqueduct syndrome (EVAS), their hearing was more related to genotype than VA size, and VA size was related to genotype. OBJECTIVE: To study genotypes of the SLC26A4 gene, types and levels of hearing loss, and vestibular aqueduct (VA) size in children with EVAS. METHODS: A total of 271 children with nonsyndromic sensorineural hearing loss and EVA underwent SLC26A4 gene screening. According to genotype typing, the phenotypes including pure tone average (PTA), distribution of subjects, and diameters of the external aperture and middle portion of the VA, were compared by t test or Pearson's χ(2) tests. Further, divided by the dilated level of the VA, subject distribution in different hearing loss levels was compared by Pearson's χ(2) test. RESULTS: In all, 66 types of mutations were identified and 2 were novel (c.665G >T and c.1639G >A). Biallelic genotype was found in 207 subjects, monoallelic in 56, and no mutation in 8. The hearing loss was more stable in the subjects with monoallelic mutation than in other genotype groups. An air-bone gap was more frequently found in subjects with biallelic missense mutations than in other groups. The patients with no mutation had the most slightly enlarged VA. There was no dominant correlation between hearing loss level and VA size, and between VA size and different genotypes.

13 Article [Audiologic features of mitochondrial DNA A3243G mutation and its correlation with mutation rate]. 2012

Xue, Jun-fang / Chen, Li / Ma, Yi-nan / Zhao, Dan-hua / Duan, Ji-bo / Wang, Zhao-xia / Qi, Yu / Liu, Yu-he. ·Department of Otolaryngology, Head & Neck Surgery, Peking University First Hospital, Beijing 100034, China. ·Zhonghua Yi Xue Za Zhi · Pubmed #23290211.

ABSTRACT: OBJECTIVE: To summarize the clinical audiologic features of patients with mitochondrial DNA (mtDNA) A3243G mutation and explore the lesion location of hearing loss so as to examine its correlation with the related syndrome. METHODS: A total of 44 patients with mtDNA A3243G mutation from 2009-2011 were studied. Audiological evaluations consisted of measurements of pure-tone and speech audiometry, tympanometry, distortion-product otoacoustic emissions and auditory brainstem response. We investigated a possible correlation between the degree of hearing loss and gender, age and mutation rate. RESULTS: (1) Pure tone test was performed in 41 patients and showed normal hearing or symmetrical sensorineural hearing loss. Pure tone audiogram (PTA) showed high-frequency loss and descending curve in a majority of patients. There were 75 ears with hearing loss in 82 ears (91.46%), 22 ears with abnormal speech audiometry in 26 ears, 77 ears with abnormal distortion product otoacoustic emissions (DPOAE)testing in 86 ears, including 5 ears with normal PTA, 31 ears with abnormal electrocochleography in 75 ears, 25 ears with abnormal auditory brainstem response (ABR) in 82 ears. The abnormal ABR showed elevated threshold in 10 ears, delayed interpeak latencies of wave I-V in 2 ears and disappearance of wave V before wave I in 1 ear. In addition, there were 2 ears with speech audiometry abnormal but with normal ABR. (2) The correlation between the severity of hearing and gender did not reach statistical significance, nor the severity of hearing and mutation ratio. Age could influence the hearing of A3243G-induced MELAS. CONCLUSIONS: The predominant lesions of mtDNA A3243G is at cochlea and retrocochlear sites. Significant variations in clinical manifestation of hearing are the prominent features in patient with A3243G mutation. There was no correlation between the degree of hearing loss and mutation load. However, hearing impairment is the most common symptom of A3243G mutation.

14 Article [Hearing impairment resulting from mitochondrial DNA mutation should be stressed]. 2012

Liu, Yu-he / Qi, Yu. ·liuyuhefeng@163.com ·Zhonghua Yi Xue Za Zhi · Pubmed #23290207.

ABSTRACT: -- No abstract --

15 Article Unilateral auditory neuropathy spectrum disorder. 2012

Zhang, Qiu-Jing / Lan, Lan / Shi, Wei / Wang, Da-Yong / Qi, Yue / Zong, Liang / Li, Qian / Wang, Hui / Ding, Hai-Na / Li, Na / Han, Bing / Wang, Qiu-Ju. ·Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China. ·Acta Otolaryngol · Pubmed #22073929.

ABSTRACT: CONCLUSIONS: The majority of the patients with unilateral auditory neuropathy spectrum disorder (UANSD) were pediatric and mostly showed a great degree of hearing loss when diagnosed. Abnormal auditory brainstem response (ABR) and preserved otoacoustic emissions (OAEs) and/or cochlear microphonics (CM) were important features to differentiate it from common sensorineural deafness and central nerve hearing loss. OBJECTIVE: To identify the clinical characteristics of patients with UANSD. METHODS: This was a retrospective study involving 14 patients diagnosed as having UANSD between 2004 and 2010 in the Chinese PLA Hospital. RESULTS: In all, 50% of the cases were males (1:1 sex ratio) and the average age of onset was 4.1 years. Of the 14 affected ears with UANSD in these cases, 6 were left-sided, while 8 were right-sided. Of the 14 contralateral ears, 4 presented with sensorineural hearing loss, while the other 10 showed normal hearing. The degree of hearing loss in the 14 affected ears varied, including moderate in 1, moderately severe in 4, severe in 5, and profound in 4. ABRs were absent in the 14 affected ears, while the OAEs, and/or CM were present.