Genetic research progress in branchio-oto syndrome/ branchio-oto-renal syndrome / 中南大学学报(医学版)

Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous disorder. These diseases are mainly characterized by hearing impairment and abnormal phenotype of ears, accompanied by renal malformation and branchial cleft anomalies including cyst or fistula, with an incidence of 1/40 000 in human population. Otic anormalies are one of the most obvious clinical manifestations of BOS/BORS, including deformities of external, middle, inner ears and hearing loss with conductive, sensorineural or mix, ranging from mild to profound loss. Temporal bone imaging could assist in the diagnosis of middle ear and inner ear malformations for clinicians. Multiple methods including direct sequencing combined with next generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), or array-based comparative genomic hybridization (aCGH) can effectively screen and identify pathogenic genes and/or variation types of BOS/BORS. About 40% of patients with BOS/BORS carry aberrations of EYA1 gene which is the most important cause of BOS/BORS. A total of 240 kinds of pathogenic variations of EYA1 have been reported in different populations so far, including frameshift, nonsense, missense, aberrant splicing, deletion and complex rearrangements. Human Endogenous Retroviral sequences (HERVs) may play an important role in mediating EYA1 chromosomal fragment deletion mutations caused by non-allelic homologous recombination. EYA1 encodes a phosphatase-transactivator cooperated with transcription factors of SIX1, participates in cranial sensory neurogenesis and development of branchial arch-derived organs, then regulates the morphological and functional differentiation of the outer ear, middle ear and inner ear toward normal tissues. In addition, pathogenic mutations of SIX1 and SIX5 genes can also cause BOS/BORS. Variations of these genes mentioned above may cause disease by destroying the bindings between SIX1-EYA1, SIX5-EYA1 or SIX1-DNA. However, the role of SIX5 gene in the pathogenesis of BORS needs further verification.

Time-compressed speech test in adults with and without central auditory processing disorders / Teste de Fala Comprimida em adultos com e sem transtorno do processamento auditivo central

ABSTRACT Purpose: to analyze and compare the performance in the time-compressed speech test and the auditory behavior of adults with and without central auditory processing disorders. Methods: an observational, analytical, cross-sectional study with a total of 40 people of both genders aged 18 to 35 years participating in the study. They were submitted to anamnesis, basic audiological assessment, and a core battery of tests for central auditory processing - including the dichotic digits test (binaural integration), frequency pattern test, and time-compressed speech test (TCST). Based on the results of the dichotic digits and frequency pattern tests, the subjects were divided into two groups, with and without central auditory processing disorders. The auditory behavior was assessed with the Scale of Auditory Behavior (SAB) questionnaire. The Mann-Whitney and Fisher's exact tests were used for the statistical analysis, setting the significance level at p < 0.05. Results: no difference in performance was found between the groups regarding the ears. There was a difference between the groups only in the time-compressed speech test with monosyllable stimuli in the left ear (p = 0.026). Monosyllables were the words that resulted in most errors. Conclusion: it was verified that only the list of stimuli influenced the performance, differing the individuals with and without central auditory processing disorders. There was an association of auditory behavior, analyzed with the SAB questionnaire, with the performance in the TCST with the list of monosyllables. It is suggested that this list be used when assessing adults by the time-compressed speech test.

RESUMO Objetivo: analisar e comparar o desempenho no Teste de Fala Comprimida e o comportamento auditivo de adultos com e sem alteração do Processamento Auditivo Central. Métodos: estudo observacional, transversal e analítico. Participaram do estudo 40 indivíduos, com idade de 18 a 35 anos, de ambos os sexos. Os participantes foram submetidos à anamnese, avaliação audiológica básica, e bateria mínima do Processamento Auditivo Central, incluindo o Teste Dicótico de Dígitos (integração binaural), Teste Padrão de Frequência e o Teste de Fala Comprimida. A partir do resultado dos Testes Dicótico de Dígitos e Padrão de Frequência foram distribuídos em grupos de indivíduos sem e com alteração de Processamento Auditivo Central. O comportamento auditivo foi avaliado por meio do questionário Scale of Auditory Behaviors(SAB). Para análise estatística foram utilizados os testes Mann-Whitney e Fisher's Exact test, considerando o nível de significância p<0,05. Resultados: em relação à variável orelha não foi encontrada diferença de desempenho entre os grupos. Houve diferença entre os grupos apenas no Teste Fala Comprimida monossílabos da orelha esquerda (p=0,026). As palavras com maior ocorrência de erros foram as monossílabas. Conclusão: verificou-se que apenas a lista de estímulos influenciou no desempenho entre os indivíduos com e sem alteração de Processamento Auditivo Central. Houve associação do comportamento auditivo analisado pelo questionário SAB com o desempenho do TFC na lista de monossílabos. Sugere-se que esta lista seja utilizada na avaliação do teste fala comprimida em adultos.

Screening for hearing loss and deafness-related genes in newborns / 中华全科医师杂志

To screen the hearing loss and deafness-related genes in newborns,the screenings for hearing loss and the mutations of common deafness-related genes were performed among 8 187 infants born in Shaoxing Maternal and Child Health Care Hospital from August 2013 to November 2014.Twenty mutation spots in deafness-related genes GJB2,GJB3,12SrRNA and SLC26A4 were detected with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS).Of 8 187 newborns,hearing loss was confirmed in 10 cases,and mutations in deafness-related genes were detected in 441 cases with a detection rate of 5.39％.Among 441 cases with positive gene mutations,there were 243 cases with GJB2 mutations (2.97％).147 cases with SCL26A4 mutations (1.80％),43 cases with GJB3 mutations (0.53％) and 15 cases with mutations of mitochondrial gene 12SrRNA (0.18％).The spot of highest detection frequency was GJB2 235delC (2.31％),followed by SCL26A4 IVS72A ＞ G (1.31％).The deafness gene detection rate for newborns who did not pass the hearing tests (8.16％,79/968) was higher than these who passed (5.01％,362/7 219;x2 =10.978,P ＜0.05).Five of 10 newborns with hearing loss were detected carrying deafness genes.The detection rate of the common deafness genes among the newborns is relatively high in this region.Screening for hearing loss and deafness gene may contribute to early diagnosis and intervention,and also to long-term precaution for those carrying heterozygosity deafness genes.

Limiar diferencial de mascaramento: valores de referência em adultos / Masking level difference: reference values in adults

RESUMO Introdução O Limiar Diferencial de Mascaramento é um teste comportamental que avalia o mecanismo de interação binaural do processamento auditivo. Objetivo Descrever o Limiar Diferencial de Mascaramento em adultos, a fim de contribuir para o estabelecimento de valores de referência para o teste. Métodos Foram avaliadas 109 mulheres sem queixas auditivas e com audiometria normal. Foi utilizada a versão do Limiar Diferencial de Mascaramento da Auditec of Saint Louis, que consiste na apresentação de 33 segmentos de ruído de banda estreita nas duas orelhas, por pelo menos, três segundos, na presença ou não de tom puro de 500 Hz. Foram utilizadas três condições distintas: tom puro e ruído de banda estreita em fase, nas duas orelhas (condição sinal/ruído homofásica - SoNo); tom puro em fase invertida, em uma das orelhas e o ruído em fase, nas duas orelhas (condição sinal/ruído antifásica - SπNo); ruído sem a presença de tom puro ( no tone – NT). A tarefa para as participantes foi a de indicarem se ouviram ou não o tom. Resultados O valor médio na condição homofásica (SoNo) foi de 12,00 dB, com erro padrão de 0,284 e, na condição antifásica (SπNo), foi de 22,77 dB, com erro padrão de 0,510. O valor médio resultante da diferença entre as duas condições, Limiar Diferencial de Mascaramento, foi de 10,83 dB, com erro padrão de 0,316. Conclusão O Limiar Diferencial de Mascaramento médio, obtido a partir de 109 adultos jovens, normo-ouvintes, do sexo feminino, foi de 10,83 dB.

ABSTRACT Introduction The Masking level difference is a behavioral test that evaluates the mechanism of binaural interaction of auditory processing. Purpose Describe the masking level difference in adults, to contribute to the establishment of reference values for the test. Methods 109 women with normal audiometry and without hearing complaints were evaluated. The version of masking level difference used was Auditec of Saint Louis, which consists in the presentation of 33 segments of narrow-band noise in one ear for at least three seconds whether or not in the presence 500 Hz pure tone. Three different conditions were used: pure tone and narrow-band noise in phase in both ears (homophasic signal/noise condition - SoNo), inverted phase pure tone in one of the ears and noise in phase in both ears (signal/noise condition - SπNo) and noise without the presence of pure tone (no tone - NT). The task for the participants was to indicate if they have heard the tone or not. Results The average value in homophasic condition (SoNo) was 12 dB, with a standard error of 0.284, and in antiphasic condition (SπNo) was 22.77 dB, with standard error of 0.510. The average value resulting from the difference between the two conditions, masking level difference, was 10.83 dB with standard error of 0.316. Conclusion The mean masking level difference obtained from 109 normal hearing young female individuals was 10.83 dB.

Effects of Nimodipine on Peripheral Facial Paralysis and Hearing in Mimetic Convulsion Patients after Mi-crovascular Decompression / 中国药房

OBJECTIVE:To observe the effects of nimodipine on peripheral facial paralysis and hearing in mimetic convulsion patients after microvascular decompression. METHODS:162 mimetic convulsion patients underwent microvascular decompression were enrolled in this study,and then randomly divided into control group and observation group,81 cases in each group. Control group was given routine microvascular decompression,and observation group was additionally given intravenous pump of Nimodip-ine injection 40 mg,qd,2 mg/h for consecutive 3 days after operation,and then given Nimodipine tablet 40 mg,qd,for 10 days. The incidence of peripheral facial paralysis and hearing disorder,onset time,duration time and severity of facial paralysis were ob-served in 2 groups. RESULTS:The incidence of peripheral facial paralysis and hearing disorder were 8.6% and 6.2% in observa-tion group,which were significantly lower than 14.8%and 11.1%of control group,with statistical significance(P<0.05). The on-set and duration time of peripheral facial paralysis was(15.32±3.15)d and(36.52±5.84)d in observation group,which were sig-nificantly later and lower than(12.21±2.16)d and(44.73±6.57)d of control group,with statistical significance(P<0.05). Ac-cording to House-Brackman classification method,the incidence of Ⅲ、Ⅳ facial paralysis was lower in control group than that in observation group,with statistical significance (P<0.05). CONCLUSIONS:Nimodipine can significantly decrease the incidence of peripheral facial paralysis and hearing disorder in mimetic convulsion patients after microvascular decompression,and contrib-utes to the recovery of injured nerve function.

Avaliação do efeito do tratamento de distúrbios temporomandibulares sobre o zumbido / Evaluating the effect of the temporomandibular disorder treatment over tinnitus

INTRODUÇÃO: A interação entre o zumbido e os distúrbios temporomandibulares é um tema que possui abordagem antiga e complexa, pois os fatores etiológicos, bem como a patogênese desta inter-relação ainda não são bem definidos. Ademais, sabe-se que o zumbido possui maior prevalência nos portadores de distúrbios temporomandibulares quando comparados com a população geral, o que sugere haver esta correlação. OBJETIVO: Avaliar o efeito do tratamento dos distúrbios temporomandibulares na percepção do zumbido. MÉTODO: Trata-se de um estudo de coorte, prospectivo, em que se estudaram pacientes portadores de distúrbios temporomandibulares (DTM) que apresentavam zumbido antes e após o tratamento odontológico do DTM. Os pacientes foram avaliados quanto à idade, sexo, caracterização do zumbido - local do sintoma e tempo de duração e avaliação auditiva através de audiometria. A intensidade do zumbido foi avaliada através de escala analógico-digital antes e após o tratamento dos DTM. RESULTADOS: Avaliamos 15 pacientes com DTM e zumbido, com idade média de 37,7±17,1 anos, sendo 86,7 por cento do sexo feminino. Em 60 por cento dos casos o zumbido era unilateral e a mediana do tempo de duração foi de 24 meses. Em 5 (33,3 por cento) pacientes identificou-se perda auditiva neurossensorial a audiometria. Comparando-se os escores da escala analógico-visual antes e após o tratamento odontológico, verificou-se que houve redução significativa (p<0,001) da intensidade do zumbido. Em 4 (26,6 por cento) pacientes houve desaparecimento do zumbido. CONCLUSÃO: Houve redução significativa na percepção do zumbido nos pacientes submetidos a tratamento das desordens temporomandibulares.

INTRODUCTION: The interaction between tinnitus and temporomandibular disorders is a very complex issue that has been long approached, because neither the etiologic factors nor the pathogenesis of such a two-way association has been clearly defined yet. Additionally, tinnitus is known to be more prevalent in temporomandibular dysfunction individuals in comparison with the general population, hence, suggesting the existence of this two-way association. OBJECTIVE: Evaluate the effect of the temporomandibular disorder treatment when tinnitus is noticed. METHODS: It is about a prospective cohort study, in which temporomandibular dysfunction (TMD) individuals showing a tinnitus before and after the dental TMD treatment were studied. Patients' age, sex, and tinnitus features - place of symptom and time length were examined, and an audiometric evaluation was performed. Intensity of tinnitus was evaluated by a digital analogue scale before and after the TMD treatment. RESULTS: We evaluated 15 TMD and tinnitus patients aged between 37. 7±17. 1, 86. 7 percent of whom were female. In 60 percent of the cases, tinnitus was unilateral and the average time length was 24 months. In 5 (33. 3 percent) patients, a neurosensorial hearing loss was seen at audiometry. When comparing the visual analogue scale scores before and after the dental treatment, a significant decrease (p<0,001) in the intensity of tinnitus was evident. In 4 (26. 6 percent) patients, tinnitus disappeared. CONCLUSION: A significant decrease in the recognition of tinnitus by patients submitted to a temporomandibular dysfunction treatment was evident.

Proposta de acompanhamento em grupo para idosos protetizados / Group follow up proposal for elderly with hearing aids

A implantação de programas de reabilitação para o deficiente auditivo adulto é de grande importância, principalmente na população geriátrica, sendo necessário incorporá-los à rotina dos serviços ambulatoriais. OBJETIVO: Apresentar um programa de atendimento em grupo voltado para idosos protetizados. MATERIAL E MÉTODO: Realizar um estudo piloto do tipo clínico e experimental, com a participação de 40 idosos usuários de próteses auditivas, doadas em um Serviço Público, distribuídos em seis grupos, com no máximo oito idosos mais seus respectivos acompanhantes. O programa constou de três encontros quinzenais, onde foram transmitidas informações e orientações necessárias para adequada adaptação dos idosos ao uso das próteses auditivas. RESULTADOS: A maioria dos idosos participou dos encontros ativamente, expondo suas opiniões espontaneamente ou respondendo as questões quando solicitado. Todos os idosos foram orientados quanto à importância da aceitação da deficiência auditiva e sobre a necessidade de motivação para o uso das próteses auditivas. Além disso, ouvir depoimentos dos outros idosos pareceu facilitar a compreensão das suas próprias dificuldades e os estimulou no processo de adaptação à amplificação. CONCLUSÃO: a formação de grupos facilitou a interação entre idosos, permitiu o esclarecimento das dúvidas e estratégias de comunicação e, conseqüentemente, favoreceu o processo de adaptação.

Implementing rehabilitation programs to hearing impaired adults is of great importance, mainly in the elderly population, and it is necessary to add them to the routine of outpatient care programs. AIM: to present a group care program for elderly patients who are fitted with hearing aids. MATERIAL AND METHOD: to carry out a pilot study of clinical and experimental type, with the participation of 40 elderly users of hearing aids donated by the government, distributed within six groups, with maximum of eight participants jointly with their respective companions. Program consisted of three meetings every fifteen days, where information and education on the proper use hearing aids was transmitted. RESULTS: Most of the patients participated actively in the meetings spontaneously giving their opinion or answering questions when so requested. All elderly had been informed as to the importance of accepting their auditory deficiency and on the need to be motivated towards using hearing aids. Moreover, listening to depositions of other elderly users seemed to facilitate understanding of their own difficulties and stimulated them in the process of getting used to the sound amplification. CONCLUSION: Groups structure facilitated interaction among aged ones, helping them to clarify communication doubts and strategies and, consequently, it promoted their adaptation.

Influence of Hearing Disorder on Newborns with Hyperbilirubinemia / 实用儿科临床杂志

Objective To investigate the incidence of hearing disorder and analyse the high-risk factors with hearing injury in newborns with hyperbilirubinemia.Methods The newborns with hyperbilirubinemia who admitted to the department of neonate,were received the distortion product otoacoustic emission(DPOAE)test when they recovered from hyperbilirubinemia;those babies who didn′t pass the first test received screening again in 42 days after birth.Those babies who didn′t pass the second test received auditory brain stem response(ABR)test.Results Fifty-eight(33.2%)newborns didn′t pass the first DPOAE test among 235 newborns with hyperbilirubinemia;11(18.9%)infants didn′t pass the second DPOAE test among 58 infants;5 infants failed to pass the ABR test,the ratio of hea-ring disorder in newborns with hyperbilirubinemia was 2.13%;18(9.9%)newborns didn′t pass the first DPOAE test among 182 normal newborns,and those infants all passed the second DPOAE test.Conclusions Hyperbilirubinemia is high-risk population of hearing disorder.The congenital cytomegalovirus infection,neonatal septicemia and hemolytic disease of newborn are the high risk factors responsible for hearing disorder.All high risk newborns should recieve hearing examination regularly.

Hearing Difficulty According To Traumatic Disk Displacement: A Case Report