Este outro que eu sou agora: impacto da surdez adquirida no adulto jovem

Dissertação apresentada à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Ciências da Educação - Especialidade Educação Especial

A importância das otoemissões acústicas num programa de conservação de audição em trabalhadores expostos ao ruído

Mestrado em Segurança e Higiene no Trabalho

Analysis of the combined exposure to noise and ototoxic substances—pilot study

Abstract: Ototoxic substances have been associated to damage of the auditory system, and its effects are potentiated by noise exposure. The present study aims at analyzing auditory changes from combined exposure to noise and organic solvents, through a pilot study in the furniture industry sector. Audiological tests were performed on 44 workers, their levels of exposure to toluene, xylene and ethylbenzene were determined and the levels of noise exposure were evaluated. The results showed that workers are generally exposed to high noise levels and cabin priming filler and varnish sector workers have high levels of exposure to toluene. However, no hearing loss was registered among the workers. Workers exposed simultaneously to noise and ototoxic substances do not have a higher degree of hearing loss than those workers exposed only to noise. Thus, the results of this study did not show that the combined exposure to noise and the organic solvent is associated with hearing disorders.

Efeitos auditivos em doentes com tumores de cabeça e pescoço e tumores cerebrais sujeitos a Radioterapia e terapia combinada

Introdução: A capacidade auditiva dos doentes com neoplasias de cabeça e pescoço e tumores cerebrais pode ser comprometida com os tratamentos antineoplásicos realizados. A Quimioterapia com cisplatina pode provocar perda auditiva de condução ou neurossensorial, podendo agravar-se quando combinada com Radioterapia (RT). O objectivo deste trabalho foi a análise da relação entre a Terapia Combinada (Cisplatina+RT) e a Radioterapia isolada, e os seus efeitos adversos sobre a audição tendo em consideração a inclusão das estruturas do ouvido no campo de tratamento de RT. Métodos: Foram seguidos 10 doentes submetidos a Terapia Combinada (grupo TC) e 11 a Radioterapia isolada (grupo RT). A avaliação audiológica realizou-se antes do inicio (M1), no fim (M2) e um mês após (M3) o termo dos tratamentos e incluiu anamnese audiológica, otoscopia e audiometria tonal. Resultados: No grupo TC, 94,4% dos doentes apresentaram uma relação directamente proporcional entre a dose de radiação na cóclea e a perda auditiva. Esta relação só se verificou em 31% dos doentes do grupo RT, tendo-se verificado diferenças significativas entre grupos (p <0,001). Conclusões: Verificou-se maior incidência da perda auditiva no grupo TC relativamente ao grupo RT. Sugere-se um melhor planeamento do tratamento de RT, reduz - indo a dose à cóclea com o objectivo de minimizar a perda auditiva neurossensorial irreversível, sobretudo quando são utilizadas as duas modalidades de tratamento.

Análise da problemática da exposição dos músicos ao ruído: perceção ao ruído e determinação dos níveis de pressão sonora na prática musical em contexto escolar

A atenção face dada à problemática da perda auditiva induzida pelo ruído nos profissionais da música tem sido enfatizada estudos nos últimos anos. No entanto, no que respeita aos alunos de música, são ainda poucos os estudos que analisam esta problemática de modo a permitir compreender se estes poderão estar expostos a elevados níveis de ruído no decorrer da sua formação e desenvolver problemas auditivos. O presente estudo pretende caraterizar os níveis de pressão sonora a que alunos de música estão expostos no decorrer das aulas e analisar a perceção do risco dos mesmos e potenciais efeitos sobre o sistema auditivo. Foram analisadas duas Orquestras de Jazz e uma Orquestra Sinfónica de uma Escola Superior de Música (ESM) e de um Conservatório de Música (CM). No total foram selecionados 24 alunos de acordo com o seu instrumento, e medidos os níveis de pressão sonora em diversas aulas, ao longo de duas semanas com recurso a 8 dosímetros. Foi aplicado um questionário para a análise da perceção dos alunos ao ruído e realizados exames audiométricos para a avaliação auditiva dos alunos. Em geral, os resultados demostraram que os alunos estão expostos a níveis elevados de ruído no decurso das aulas de instrumento e ensaios. Foram obtidos elevados níveis de Lp,A,eqT na bateria, vibrafone, saxofone, trombone, clarinete e trompa. Nas três escolas, verificou-se valores mais baixos de exposição no contrabaixo, nomeadamente nas Aulas Individuais. Os valores de Lp,Cpico ultrapassaram o valor de ação inferior de 135 dB(C) na percussão e saxofone. Nas aulas teóricas os valores obtidos ultrapassaram recomendação de 35 dB(A). No que respeita à perceção dos alunos verificou-se que em geral consideram que a exposição a elevados níveis de pressão sonora não tem efeitos significativos na saúde. Apesar de se ter verificado que todos os alunos avaliados apresentam uma audição normal, tinnitus, hiperacusia, distorção e diplacusia foram identificados por um número significativo de alunos. Os resultados obtidos neste estudo refletem a necessidade de implementação de medidas de prevenção e controlo dos níveis de exposição dos alunos de música com vista a um aumento da sua consciencialização do risco.

Noise management at work

Every single day millions of European workers are exposed to noise at work. One in five of European’s workers have to raise his voice to be heard for at least half of the time that there are at work and 7% suffer from work-related hearing impairment. In Europe noise-induced hearing loss is the most common reported occupational disease. This paper deals with issues related with noise management at work, especially regarding the compliance with the new noise European Directive, (2003/10/EC).

Audiometric profile of civilian pilots according to noise exposure

OBJECTIVE To evaluate the audiometric profile of civilian pilots according to the noise exposure level. METHODS This observational cross-sectional study evaluated 3,130 male civilian pilots aged between 17 and 59 years. These pilots were subjected to audiometric examinations for obtaining or revalidating the functional capacity certificate in 2011. The degree of hearing loss was classified as normal, suspected noise-induced hearing loss, and no suspected hearing loss with other associated complications. Pure-tone air-conduction audiometry was performed using supra-aural headphones and acoustic stimulus of the pure-tone type, containing tone thresholds of frequencies between 250 Hz and 6,000 Hz. The independent variables were professional categories, length of service, hours of flight, and right or left ear. The dependent variable was pilots with suspected noise-induced hearing loss. The noise exposure level was considered low/medium or high, and the latter involved periods > 5,000 flight hours and > 10 years of flight service. RESULTS A total of 29.3% pilots had suspected noise-induced hearing loss, which was bilateral in 12.8% and predominant in the left ear (23.7%). The number of pilots with suspected hearing loss increased as the noise exposure level increased. CONCLUSIONS Hearing loss in civilian pilots may be associated with noise exposure during the period of service and hours of flight.

Evaluation of the noise exposure of symphonic orchestra musicians

For musicians, the impact of noise exposure is not yet fully characterized. Some inconsistencies can be found in the methodology used to evaluate noise exposure. This study aims to analyze the noise exposure of musicians in a symphonic orchestra to understand their risk for hearing loss, applying the methodology proposed by ISO 9612:2009. Noise levels were monitored among musicians during the rehearsal of eight different repertoires. Test subjects were selected according to their instrument and position in the orchestra. Participants wore noise dosimeters throughout the rehearsals. A sound meter was used to analyze the exposure of the conductor. The results showed that musicians are exposed to high noise levels that can damage hearing. Brass, woodwind and percussion and timpani musicians were exposed to noise levels in excess of the upper exposure action level of 85 dB (A), while the other instrumental groups had a lower exposure action level of 80 dB (A). Percussion musicians were exposed to high peak noise levels of 135 dB (C). Sound levels varied by instrument, repertoire and position. Octave frequency analyses showed differences among musicians. This study suggests that musicians are at risk for hearing loss. There is a need for more effective guidelines applicable to all countries, which should define standardized procedures for determining musician noise exposure and should allow exposure level normalization to the year, including different repertoires.

FIRST REPORT ON OTOTOXICITY OF MEGLUMINE ANTIMONIATE

Introduction: Pentavalent antimonials are the first drug of choice in the treatment of tegumentary leishmaniasis. Data on ototoxicity related with such drugs is scarcely available in literature, leading us to develop a study on cochleovestibular functions. Case Report: A case of a tegumentary leishmaniasis patient, a 78-year-old man who presented a substantial increase in auditory threshold with tinnitus and severe rotatory dizziness during the treatment with meglumine antimoniate, is reported. These symptoms worsened in two weeks after treatment was interrupted. Conclusion: Dizziness and tinnitus had already been related to meglumine antimoniate. However, this is the first well documented case of cochlear-vestibular toxicity related to meglumine antimoniate.

Formas Atípicas de Hipoacúsia em Doentes com o Diagnóstico de Neurinoma do Acústico

A hipoacúsia neurosensorial unilateral e progressiva é uma das principais manisfestações audiológicas dos doentes com diagnóstico de neurinoma do acústico, estando no entanto descritas outras formas de apresentação. Dos 43 doentes com diagnóstico de neurinoma do acústico, tratados pela equipa de otoneurocirurgia entre 1997 e 2003, identificamos 88,5% com hipoacústica neurosensorial unilateral, 4,6% como hipoacústica neurosensorial súbita, 4,6% com audição simétrica e 2,3% com audição "normal". Estes dados revelam a existência de três formas incomuns de apresentação dos neurinomas, facto que deve levar os otorrinolaringologistas a manterem um elevado grau de alerta perante doentes com queixas que possam sugerir, de algum modo, a presença de neurinoma do acústico.

Mitigating the impact of occupational noise exposure for elderly workers: Setting the functional requirements for an ANC system

Noise affects people in very different aspects and in almost every aspect of our daily life. The most prominent impact of noise exposure is hearing loss. However, it can also impair people at their work settings due to other effects rather than hearing loss. Older works tend to be more susceptible to noise exposure effects at work, firstly because most of them already have some ‘natural’ hearing loss, as a results of the ageing process, and secondly because they also tend to be more susceptible at an psychological level. The current study is an attempt to describe the potential problem and to make a survey to identify the available active noise cancelation systems, as well as to specific the main requirements of this type of systems to be applied in such contexts. Several aspects of characteristics of the ANC systems were identified and are presented in this study. From the obtained results it was possible to have a clearer idea about the potential of this technology, and to confirm that this type of solution can be extremely important as a component of an active ageing program, as the preservation of hearing will also impact on the social life of the exposed workers.

Potencial das atividades desenvolvidas por docentes de música para a perda auditiva induzida por ruído

A perda auditiva por exposição ao ruído é um problema de saúde ocupacional, não reconhecido nas escolas de música. Em Portugal, a legislação relativa a ruído ocupacional não possui indicações específicas para músicos, existindo apenas um código de conduta europeu, proveniente da Diretiva 2003/10/CE que estabelece as orientações gerais relativas a como devem ser protegidos do ruído músicos e trabalhadores de setores de entretenimento. Avaliou-se o nível sonoro contínuo equivalente (LAeq), individualmente no decorrer das atividades letivas, o que permitiu determinar o nível exposição pessoal diária ao ruído (Lex,8h) de 20 docentes de música. Paralelamente, os docentes preencheram um questionário relativo a fatores intrínsecos e individuais e todos efetuaram audiogramas tonais simples. Os dados recolhidos foram estatisticamente tratados através do programa Statistical Package for Social Sciences (SPSS) versão 21. Existem atividades letivas que implicam níveis de exposição pessoal diária ao ruído superiores ao nível de ação inferior (25%), pelo que se devem adotar medidas para sensibilizar e alertar os docentes para a adoção de medidas de proteção. A atividade dos docentes expostos a níveis de exposição pessoal diária mais elevados correspondeu a aulas de grupo e a aulas individuais, com utilização de instrumentos musicais direcionais. A manifestação de sintomatologia relevante relativa a perda auditiva (audição de zumbidos, dificuldades de perceção do diálogo e dificuldade em adormecer) e a evolução da surdez profissional, não parecem estar diretamente relacionadas com os níveis de exposição pessoal diária ao ruído nem atividades com exposição ao ruído desenvolvidas nos tempos livres.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

OBJECTIVE: To identify the genetic causes underlying autosomal recessive retinitis pigmentosa (arRP) and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: Three hundred forty-seven unrelated families affected by arRP and 33 unrelated families affected by retinitis pigmentosa (RP) plus noncongenital and progressive hearing loss, ataxia, or both, respectively. METHODS: A whole exome sequencing (WES) analysis was performed in 2 families segregating arRP. A mutational screening was performed in 378 additional unrelated families for the exon-intron boundaries of the ABHD12 gene. To establish a genotype-phenotype correlation, individuals who were homozygous or compound heterozygotes of mutations in ABHD12 underwent exhaustive clinical examinations by ophthalmologists, neurologists, and otologists. MAIN OUTCOME MEASURES: DNA sequence variants, best-corrected visual acuity, visual field assessments, electroretinogram responses, magnetic resonance imaging, and audiography. RESULTS: After a WES analysis, we identified 4 new mutations (p.Arg107Glufs*8, p.Trp159*, p.Arg186Pro, and p.Thr202Ile) in ABHD12 in 2 families (RP-1292 and W08-1833) previously diagnosed with nonsyndromic arRP, which cosegregated with the disease among the family members. Another homozygous mutation (p.His372Gln) was detected in 1 affected individual (RP-1487) from a cohort of 378 unrelated arRP and syndromic RP patients. After exhaustive clinical examinations by neurologists and otologists, the 4 affected members of the RP-1292 had no polyneuropathy or ataxia, and the sensorineural hearing loss and cataract were attributed to age or the normal course of the RP, whereas the affected members of the families W08-1833 and RP-1487 showed clearly symptoms associated with polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract (PHARC) syndrome. CONCLUSIONS: Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12. This is the first time missense mutations have been described for this gene. Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.

Névrite vestibulaire: traitement et pronostic [Vestibular neuritis: treatment and prognosis].

Vestibular neuritis is a sudden unilateral peripheral vestibular deficit of unknown origin without associated hearing loss. It is the second cause of peripheral vertigo after Benign Paroxysmal Positional Vertigo (BPPV). The etiology remains unclear and some treatments are still controversial. The prognosis is good. The differential diagnosis of the disease mainly includes an acute vertigo of central origin. This article summarizes the management and prognosis of vestibular neuritis.

De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness. Molecular defects causal to JLNS are either homozygous or compound heterozygous mutations, predominantly in the KCNQ1 gene and occasionally in the KCNE1 gene. As the molecular defect is bi-allelic, JLNS patients inherit one pathogenic mutation causal to the disorder from each parent. In this report, we show for the first time that such a disorder could also occur due to a spontaneous de novo mutation in the affected individual, not inherited from the parent, which makes this case unique unlike the previously reported JLNS cases.