Brazilian Society of Otology task force - Vestibular Schwannoma ‒ evaluation and treatment.

OBJECTIVE: To review the literature on the diagnosis and treatment of vestibular schwannoma. METHODS: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on vestibular schwannoma were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. RESULTS: The topics were divided into 2 parts: (1) Diagnosis - audiologic, electrophysiologic tests, and imaging; (2) Treatment - wait and scan protocols, surgery, radiosurgery/radiotherapy, and systemic therapy. CONCLUSIONS: Decision making in VS treatment has become more challenging. MRI can diagnose increasingly smaller tumors, which has disastrous consequences for the patients and their families. It is important to develop an individualized approach for each case, which highly depends on the experience of each surgical team.

Brazilian Society of Otology task force - Vestibular Schwannoma - evaluation and treatment

Abstract Objective: To review the literature on the diagnosis and treatment of vestibular schwannoma. Methods: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on vestibular schwannoma were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. Results: The topics were divided into 2 parts: (1) Diagnosis - audiologic, electrophysiologic tests, and imaging; (2) Treatment - wait and scan protocols, surgery, radiosurgery/radiotherapy, and systemic therapy. Conclusions: Decision making in VS treatment has become more challenging. MRI can diagnose increasingly smaller tumors, which has disastrous consequences for the patients and their families. It is important to develop an individualized approach for each case, which highly depends on the experience of each surgical team.

Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome / Maculopatia simétrica bilateral e heterocromia na síndrome de Waardenburg

ABSTRACT Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed symmetrical pigmentation of the retina and choroid, with atrophy of the pigment epithelium in the macular region, notably also in the eye with normal iris pigment illustrating the broad spectrum of the iris and fundus pigmentation as part of this syndrome. A carefully clinical and ophthalmological evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory-pigmentary syndrome. Early diagnosis in some cases may be crucial for the adequate development of patients affected with this condition.

RESUMO A síndrome de Waardenburg é uma doença genética congênita rara caracterizada por perda auditiva neurossensorial e anormalidades pigmentares do cabelo, da pele e dos olhos. Com base nas diferentes apresentações clínicas, é dividida em quatro subtipos (WS1 a WS4). Este relato descreve o caso de um menino de 15 anos que apresentava baixa visão e perda auditiva bilateral. Sua acuidade visual era de 20/200 em ambos os olhos. O exame em lâmpada de fenda revelou heterocromia completa da íris, com uma íris azul e uma íris marrom. A fundoscopia mostrou pigmentação simétrica da retina e coroide, com atrofia do epitélio pigmentar na região macular, notadamente também no olho com pigmento de íris normal, ilustrando o amplo espectro de pigmentação de íris e fundo como parte dessa síndrome. Uma avaliação clínica e oftalmológica criteriosa deve ser feita para diferenciar os vários tipos de síndrome de Waardenburg e outras síndromes auditivo-pigmentares associadas. O diagnóstico precoce em alguns casos pode ser crucial para o desenvolvimento adequado dos pacientes acometidos por essa condição.

Satisfaction and quality of life in cochlear implant users with long sensory deprivation / Satisfação e qualidade de vida em usuários de implante coclear com longo tempo de privação sensorial

ABSTRACT Purpose The aim of the study was to verify the level of satisfaction of CI users with long periods of hearing deprivation, highlighting the positive and negative aspects of the use of the device and their quality of life. Methods This is a analytical research, of the type observational cross-sectional study. The study was performed with 24 patients from a private Institute of Otorhinolaryngology. Three surveys were applied: Satisfaction with Amplification in Daily Life (SADL), International Outcome Inventory - Cochlear Implant (IOI - CI) to assess cochlear implant satisfaction and WHOQOL- bref to assess the quality of life. The results in the pre and post lingual groups were compared. Results The highest degree of satisfaction was reported with regard to personal image, positive effects, and how the users feel about their CI. The lowest degree of satisfaction was reported regarding the cost-benefit of the CI and the competitive noise. In the WHOQOL-bref assessment, the highest scores were found in physical, psychological and social relations domains. When comparing the results of the surveys, the pre and post-lingual groups showed no difference in relation to the achieved scores. Conclusion The participants had a high level of satisfaction with the use of cochlear implants. The longer the sensory deprivation time, the greater the degree of satisfaction with the device. The use of the CI electronic device reflects on the individual's quality of life.

RESUMO Objetivo Verificar o nível de satisfação de usuários de IC com longos períodos de privação auditiva, destacando os aspectos positivos e negativos do uso do dispositivo e avaliar a qualidade de vida desses indivíduos. Método Trata-se de uma pesquisa analítica, do tipo estudo observacional transversal. O estudo foi realizado com 24 pacientes de um instituto privado de Otorrinolaringologia. Foram aplicados três questionários: Satisfaction with Amplification in Daily Life (SADL), International Outcome Inventory- Implante Coclear (IOI - IC) para avaliar a satisfação com o implante coclear e WHOQOL-bref para avaliar a qualidade de vida. Os resultados nos grupos pré e pós-lingual foram comparados. Resultados O maior grau de satisfação foi relatado em relação à imagem pessoal, efeitos positivos e como os usuários se sentem em relação ao seu IC. O menor grau de satisfação ocorreu em relação ao custo-benefício do IC e ao ruído competitivo. Na avaliação do WHOQOL-bref, os maiores escores foram encontrados nos domínios físico, psicológico e relações sociais. Os grupos pré e pós-lingual não apresentaram diferença em relação aos escores alcançados. Conclusão Os participantes apresentaram alto nível de satisfação com o uso do implante coclear. Quanto maior o tempo de privação sensorial maior o grau de satisfação com o dispositivo. O uso do dispositivo eletrônico de IC reflete melhora na qualidade de vida do indivíduo.

Rehabilitación auditiva y comprensión de textos, un reto en los niños sordos con implante coclear / Hearing rehabilitation and reading understanding: a challenge for deaf children with cochlear implants

RESUMEN Introducción: los niños con sordera severa y profunda reclaman de una rehabilitación auditiva y lingüística muy particular, desde entornos inclusivos que les permita tener acceso a todos los sonidos del medio, esto incluye el habla y la mejora de sus habilidades comunicativas para la comprensión y expresión del lenguaje. Objetivo: valorar la efectividad de un cuaderno de actividades dirigido a la rehabilitación auditiva y la comprensión de textos en niños sordos con implante coclear del municipio Pinar del Río. Métodos: se realizó un estudio de corte pedagógico, con el análisis de contenido, la observación científica, entrevista, estadística descriptiva y batería de exploración del lenguaje de los deficientes auditivos, en una muestra de cinco niños sordos con implante coclear, cinco logopedas y seis maestros de las escuelas primarias, en el período del 2017 hasta el 2018. Resultados: como una posible respuesta a las insuficiencias que presentaron los niños en el proceso de rehabilitación auditiva y comprensión de textos, se elaboró un cuaderno de actividades como vía para el desarrollo de la lectura y construcción de significados, con una visión integradora de la lengua española escrita y múltiples posibilidades de aplicación en la atención logopédica integral. Conclusiones: la utilización del cuaderno de actividades constató su valor teórico, metodológico y práctico, al confirmar niveles superiores en el desarrollo de la rehabilitación auditiva y la comprensión de textos en los niños sordos con implante coclear del municipio Pinar del Río.

ABSTRACT Introduction: children with severe and deep deafness demand a particular hearing and linguistic rehabilitation, from inclusive environments, allowing them to have access to all the sounds of the environment, including speech and the development of their communication skills for the understanding and expression of language. Objective: to assess the effectiveness of a notebook of activities aimed at hearing rehabilitation and reading understanding in deaf children with cochlear implants in Pinar del Río municipality. Methods: a pedagogical study was carried out, using the analysis of contents, scientific observation, interview, descriptive statistics and the series of language exploration for the hearing impaired, in a sample of 5 deaf children with cochlear implant, 5 speech therapists and 6 primary school teachers, during 2017 to 2018. Results: as a possible solution to the deficiencies the children presented in the process of hearing rehabilitation and reading understanding, a notebook of activities was created as a way to develop reading and concept of meanings, with a complete vision of the written Spanish language and multiple possibilities of application in the comprehensive speech therapy care. Conclusions: the use of the notebook of activities proved its theoretical, methodological and practical values, confirming higher levels in the development of hearing rehabilitation and reading understanding in deaf children with cochlear implant in Pinar del Río municipality.

[Influence of capsular pseudoexfoliation syndrome on hearing loss]. / Influencia del síndrome de pseudoexfoliación capsular en la pérdida auditiva.

Introduction: Pseudoexfoliation Syndrome (PEX) is a genetic-inherited disorder, consisting of the deposition of elastin microfibers in intra and extraocular tissue. PEX is one of the most common identifiable secondary causes of glaucoma. Several studies have associated PEX with systemic conditions and the finding of fibrillar material in the structures of the inner ear, similar to that of pseudoexfoliation detected in the eye, has been described. Objective: to compare audiometric levels in patients with and without ocular PEX. Materials and Methods: Retrospective case-control study. 48 medical records of patients who attended the ophthalmology service of the Private Hospital of Córdoba were selected between January 2015 and December 2017, between 59 and 75 years. They were divided into groups: controls (n = 22): without PEX and cases (n = 26): with PEX. The medical records of patients who underwent ophthalmological and audiometric studies were analyzed. For the statistical analysis, the Student's T test was used for independent and paired samples; in all cases a level of significance ≤ 0.05 was considered. Results: The percentage of hearing loss was 56.8% in the control group and 82.7% in the PEX group. The percentage disability in the group with PEX was greater in monaural (p = 0.0008) and biaural (p = 0.0307) hearing compared to patients without PEX. Conclusion: Patients with ocular PEX showed a higher percentage of hearing loss, compared to those patients without ophthalmic evidence of PEX.

Introducción: El Síndrome de Pseudoexfoliación (PEX) es un trastorno genético-hereditario, consiste en el depósito de microfibras de elastina en tejido intra y extraocular. El PEX es una de las causas secundarias identificables más comunes del glaucoma. Varios estudios han asociado el PEX con afecciones sistémicas y se ha descripto el hallazgo de material fibrilar en las estructuras del oído interno, similares al de pseudoexfoliación detectado en el ojo. Objetivo: comparar los niveles de audiométricos en pacientes con y sin PEX ocular. Materiales y Métodos: Estudio retrospectivo de casos y controles. Se seleccionaron 48 historias clínicas de pacientes que asistieron al servicio de oftalmología del Hospital Privado de Córdoba, entre enero del 2015 y diciembre de 2017, de entre 59 y 75 años. Se los dividió en grupos: controles (n=22): sin PEX y casos (n=26): con PEX. Se analizaron las historias clínicas de pacientes a los que se les realizaron estudios oftalmológicos y audiométricos. Para el análisis estadístico se utilizó el test T de Student para muestras independientes y apareadas; en todos los casos se consideró un nivel de significación ≤ 0.05. Resultados: El porcentaje de pérdida auditiva fue del 56,8% en el grupo control y un 82,7% en el grupo PEX. La incapacidad porcentual en el grupo con PEX fue mayor en la audición monoaural (p=0,0008) y biaural (p=0,0307) con respecto a los pacientes sin PEX. Conclusión: Los pacientes con PEX ocular mostraron un porcentaje mayor de hipoacusia, en comparación con aquellos pacientes sin evidencia oftalmológica de PEX.

Perda auditiva unilateral e assimétrica na infância / Unilateral and asymmetric hearing loss in childhood

RESUMO Objetivo Descrever a perda auditiva sensorioneural unilateral e bilateral assimétrica em crianças quanto às características etiológicas, audiológicas e demográficas. Método Estudo retrospectivo transversal, desenvolvido na Seção de Implante Coclear do Hospital de Reabilitação de Anomalias Craniofaciais, por meio da análise de prontuários. Resultados Foram analisados os dados de 1152 pacientes, sendo 424 (37%) adolescentes, adultos ou idosos e 728 (63%) crianças, dentre as quais, 691 (95%) apresentavam perda auditiva bilateral simétrica e 37 (5%) perda auditiva sensorioneural unilateral (n=10) ou bilateral assimétrica (n=27). A idade média ao diagnóstico na perda auditiva sensorioneural unilateral foi de 33,58±21,69 meses e na bilateral assimétrica de 33,12±21,69 meses, com prevalência de 1,4% e 3,7%, respectivamente. O indicador de risco para a deficiência auditiva de maior ocorrência para ambos os grupos foi o de antecedente familiar. A maioria dos familiares das crianças com perda auditiva sensorioneural unilateral apresentaram a classificação socioeconômica baixa superior (50%), enquanto que as crianças com perda auditiva sensorioneural bilateral assimétrica se subdividiram igualmente em baixa superior (37%) e média inferior (37%). Conclusão Houve uma maior prevalência da perda auditiva sensorioneural bilateral assimétrica em relação à unilateral, bem como do indicador de risco de hereditariedade, com predomínio do grau profundo na pior orelha e preponderância do sexo feminino, em ambos os grupos. Apesar de a triagem auditiva neonatal propiciar a identificação precoce da perda auditiva sensorioneural unilateral, a idade no diagnóstico audiológico ainda se encontra acima do recomendado. Adicionalmente, a maioria dos familiares das crianças apresentou nível de rendimento baixo.

ABSTRACT Purpose To describe unilateral and bilateral asymmetric sensorineural hearing loss in children and its etiological, audiological and demographic characteristics. Methods Retrospective cross-sectional study developed in the Seção de Implante Coclear of Hospital de Reabilitação de Anomalias Craniofaciais, through the analysis of medical records. Results Data from 1152 patients were analyzed: 424 (37%) adolescents, adults or elderly, and 728 (63%) children, of whom 691 (95%) had bilateral symmetrical hearing loss, and 37 (5%) had unilateral hearing loss (n=10) or bilateral asymmetric (n=27) sensorineural hearing loss. The mean age at diagnosis of unilateral sensorineural hearing loss was 33.58±21.69 months, and for asymmetric bilateral it was 33.12±21.69 months, with a prevalence of 1.4% and 3.7%, respectively. The highest risk indicator for hearing loss for both groups was the family history of permanent deafness, which began in childhood. The majority of the relatives of children with unilateral sensorineural hearing loss presented the highest low socioeconomic classification (50%), while children with bilateral asymmetric sensorineural hearing loss were also be subdivided into upper (37%) and lower (37%). Conclusion We observed a greater occurrence of asymmetric bilateral sensorineural hearing loss compared to unilateral hearing loss, as well as the hereditary risk indicator, with a predominance of the deep ear and female preponderance in both groups. Although neonatal hearing screening provides early identification of unilateral sensorineural hearing loss, the age at the audiological diagnosis is still above the recommended level. In addition, the majority of the children's family members presented a low level of income.

Evaluation of the Facial Recess and Cochlea on the Temporal Bone of Stillbirths regarding the Percutaneous Cochlear Implant.

Introduction The literature shows that there are anatomical changes on the temporal bone anatomy during the first four years of life in children. Therefore, we decided to evaluate the temporal bone anatomy regarding the cochlear implant surgery in stillbirths between 32 and 40 weeks of gestational age using computed tomography to simulate the trajectory of the drill to the scala timpani avoiding vital structures. Objectives To measure the distances of the simulated trajectory to the facial recess, cochlea, ossicular chain and tympanic membrane, while performing the minimally invasive cochlear implant technique, using the Improvise imaging software (Vanderbilt University, Nashville, TN, US). Methods An experimental study with 9 stillbirth specimens, with gestational ages ranging between 32 and 40 weeks, undergoing tomographic evaluation with individualization and reconstruction of the labyrinth, facial nerve, ossicular chain, tympanic membrane and cochlea followed by drill path definition to the scala tympani. Improvise was used for the computed tomography (CT) evaluation and for the reconstruction of the structures and trajectory of the drill. Results Range of the distance of the trajectory to the facial nerve: 0.58 to 1.71 mm. to the ossicular chain: 0.38 to 1.49 mm; to the tympanic membrane: 0.85 to 1.96 mm; total range of the distance of the trajectory: 5.92 to 12.65 mm. Conclusion The measurements of the relationship between the drill and the anatomical structures of the middle ear and the simulation of the trajectory showed that the middle ear cavity at 32 weeks was big enough for surgical procedures such as cochlear implants. Although cochlear implantation at birth is not an indication yet, this study shows that the technique may be an option in the future.

Evaluation of the Facial Recess and Cochlea on the Temporal Bone of Stillbirths regarding the Percutaneous Cochlear Implant

Abstract Introduction The literature shows that there are anatomical changes on the temporal bone anatomy during the first four years of life in children. Therefore, we decided to evaluate the temporal bone anatomy regarding the cochlear implant surgery in stillbirths between 32 and 40 weeks of gestational age using computed tomography to simulate the trajectory of the drill to the scala timpani avoiding vital structures. Objectives To measure the distances of the simulated trajectory to the facial recess, cochlea, ossicular chain and tympanic membrane, while performing the minimally invasive cochlear implant technique, using the Improvise imaging software (Vanderbilt University, Nashville, TN, US). Methods An experimental study with 9 stillbirth specimens, with gestational ages ranging between 32 and 40 weeks, undergoing tomographic evaluation with individualization and reconstruction of the labyrinth, facial nerve, ossicular chain, tympanic membrane and cochlea followed by drill path definition to the scala tympani. Improvise was used for the computed tomography (CT) evaluation and for the reconstruction of the structures and trajectory of the drill. Results Range of the distance of the trajectory to the facial nerve: 0.58 to 1.71mm. to the ossicular chain: 0.38 to 1.49 mm; to the tympanic membrane: 0.85 to 1.96 mm; total range of the distance of the trajectory: 5.92 to 12.65 mm. Conclusion The measurements of the relationship between the drill and the anatomical structures of the middle ear and the simulation of the trajectory showed that the middle ear cavity at 32 weeks was big enough for surgical procedures such as cochlear implants. Although cochlear implantation at birth is not an indication yet, this study shows that the technique may be an option in the future.

Pérdida auditiva inducida por ruido en trabajadores expuestos en su ambiente laboral / Noise induced hearing loss in workers exposed in their work environment

Introducción: La pérdida auditiva inducida por ruido constituye un verdadero problema desde el punto de vista social y de la salud, debido a su constante incremento, conforme la civilización avanza y se desarrolla. Con la industrialización y la falta de conciencia sobre su incidencia, este padecimiento se acrecienta día a día. Se estima que un tercio de la población mundial padece algún grado de afectación inducida por ruidos. Es importante conocer la prevalencia debido a que la hipoacusia inducida por el ruido es una de las principales causas de discapacidad prevenible. Objetivos: Identificar el riesgo laboral en el que se encuentran los trabajadores expuestos al ruido industrial, mediante la medición del grado de hipoacusia en vinculación con su entorno laboral y el estudio de la situación actual de la normativa vigente en materia de salud laboral, a fin de elaborar propuestas para la mejora de la situación detectada. Material y Métodos: Estudio descriptivo transversal con componente analítico, tomando como muestra a 109 trabajadores de una empresa de medios de comunicación de la ciudad de Asunción, en el año 2017, con el fin de identificar la prevalencia de las hipoacusias inducidas por ruido y su relación con los factores que las producen. Resultados: Fueron estudiados un total de 109 trabajadores, de distintos sectores de una empresa de comunicación gráfica. Presentaron hipoacusia sensorioneural 49 trabajadores, lo que representa una prevalencia del 45 %. Conclusiones: Existe riesgo significativo de lesiones auditivas en trabajadores expuestos a una contaminación sonora en dependencia de la exposición de carga horaria diaria y teniendo en cuenta que la naturaleza de la lesión tiene un carácter irreversible, es necesario mejorar las orientaciones respecto a las medidas preventivas. Ética: se respetan los principios de ética, preservando la identidad de los trabajadores evaluados. Respeta los principios de beneficencia puesto que puede contribuir a la salud auditiva de los mismos así como de no maleficencia puesto que este estudio no presenta riesgos.

Introduction: The noise-induced hearing loss is a real problem from the social and health point of view, due to its constant increase, as the civilization advances and develops. With industrialization and lack of awareness about its incidence, this condition is increasing day by day. It is estimated that one third of the world population suffers some degree of noise-induced affectation. It is important to know the prevalence because hearing-induced hearing loss is one of the main causes of preventable disability. Objectives: To identify the occupational risk in which workers are exposed to industrial noise, by measuring the degree of hearing loss in connection with their work environment and the study of the current situation of current regulations on occupational health, in order to elaborate proposals for the improvement of the situation detected. Material and Methods: Cross-sectional descriptive study with analytical component, taking as sample 109 workers from a media company of the city of Asunción, in the year 2017, in order to identify the prevalence of noise-induced hearing loss and its relationship with the factors that produce them. Results: A total of 109 workers from different sectors of a graphic communication company were studied. 49 workers presented sensorineural hearing loss, representing a prevalence of 45%. Conclusions: There is a significant risk of hearing damage in workers exposed to noise pollution depending on the exposure of daily workload and taking into account that the nature of the injury is irreversible, it is necessary to improve the guidelines regarding preventive measures. Ethics: the principles of ethics are respected, preserving the identity of the evaluated workers. It respects the principles of beneficence since it can contribute to their auditory health as well as non-maleficence since this study does not present risks.

Susac's syndrome: isolated retinal artery occlusion after 10 years of remission / Síndrome de Susac: oclusão isolada da artéria retiniana após 10 anos de remissão

ABSTRACT Susac's syndrome, or microangiopathy of the retina, inner ear, and brain, is a rare condition characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. The complete triad has been documented in 85% of reported cases. At clinical onset, the most common manifestations are central nervous system symptoms, followed by visual symptoms and hearing disturbances. Although the clinical course of Susac's syndrome is usually self-limiting, fluctuating, and monophasic, clinical polycyclic and chronic courses have also been described. Likewise, recurrences of the full triad after more than 10 years of remission have been reported. We describe a 21-year-old woman who presented with branch retinal artery occlusions and magnetic resonance imaging findings compatible with Susac's syndrome without objective hearing loss. After 10 years of remission, the patient complained of visual field loss due to new retinal ischemia. Neither other symptoms nor neuroimaging or audiometry pathologic findings were found during the clinical course.

RESUMO A síndrome de Susac, ou a micro angiopatia da retina, do ouvido interno e do cérebro, é uma condição rara caracterizada pela tríade clínica de encefalopatia, oclusão de ramo da artéria retiniana e perda de audição neuro-sensorial. A tríade completa é documentada em 85% dos casos registrados. No início dos sinais clínicos, a manifestação mais comum relaciona-se ao sistema nervoso central, seguida por sintomas visuais e distúrbios auditivos. Apesar do curso clínico da síndrome de Susac ser usualmente auto limitante, variável e monofásico, cursos clínicos policíclicos e crônicos têm sido também descritos. Do mesmo modo, recorrências da tríade completa após mais de 10 anos de remissão têm sido relatadas. Descrevemos o caso de uma mulher de 21 anos que apresentava oclusões de ramos da artéria retiniana e imagens por ressonância magnética compatíveis com a síndrome de Susac, sem comprometimento objetivo da audição. Dez anos após a remissão, a paciente queixou-se de perda de campo visual devido a uma nova isquemia da retina. Nenhum outro sintoma, ou neuroimagem ou achado audiométrico patológico foi observado durante o curso clínico.

Hipoacusia neurosensorial, secundaria a enfermedad relacionada con MYH9: Reporte de caso / Neurosensory hearing loss, secondary to MYH9 related disease: Case report

La enfermedad relacionada con MYH9, es un conjunto de síntomas que se expresan por la mutación de la cadena pesada de la miosina no muscular tipo IIA, la cual se expresa ampliamente en las células del cuerpo humano; dicho síndrome es una causa sindrómica de hipoacusia neurosensorial, que cada día ha aumentado su incidencia; y debido a lo anterior y además teniendo en cuenta que este tipo de pérdida auditiva es progresivo y severo, tiene una gran afección sobre la calidad de vida de los pacientes que presentan esta enfermedad, por lo tanto es importante conocer las manifestaciones clínicas relacionadas, la fisiopatología, y el tratamiento de elección en estos casos, con el fin de mejorar la calidad de vida de los pacientes.

MYH9 related disease, is a set of symptoms due to the mutation of the heavy chain of non-muscular myosin type IIA, which is widely expressed in the cells of the human body. It is a syndromic cause of sensorineural hearing loss, which has been increasing its incidence; and taking into account that this type of hearing loss is progressive and severe, its impact on the quality of life of patients is highly important. Therefore it is necessary to know the clinical manifestations related to pathophysiology, and the treatment of choice in these cases, in order to improve the quality of life of patients.

Diabetes mellitus and sensorineural hearing loss: is there an association? Baseline of the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil)

OBJECTIVES: Although several studies have investigated the effects of diabetes on hearing loss, the relationship between these two conditions remains unclear. Some studies have suggested that diabetes may cause sensorineural hearing loss, whereas others have failed to find an association. The biggest challenge in investigating the association between diabetes and hearing loss is the presence of confounding variables and the complexity of the auditory system. Our study investigated the association between diabetes and sensorineural hearing loss. We evaluated the influence of time from diabetes diagnosis on this association after controlling for age, gender, and hypertension diagnosis and excluding those subjects with exposure to noise. METHODS: This cross-sectional study evaluated 901 adult and elderly Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) participants from São Paulo, Brazil who underwent audiometry testing as part of ELSA-Brasil’s baseline assessment. RESULTS: Hearing thresholds and speech test results were significantly worse in the group with diabetes than in the group without diabetes. However, no significant differences were found between participants with and without diabetes after adjusting for age, gender, and the presence of hypertension. Hearing thresholds were not affected by occupational noise exposure in the groups with and without diabetes. In addition, no association between the duration of diabetes and hearing thresholds was observed after adjusting for age, gender, and hypertension. CONCLUSION: We found no association between the duration of diabetes and worse hearing thresholds after models were adjusted for age, gender, and the presence of hypertension.

Caracterización clínica del síndrome de Usher. Provincia Holguín / Usher syndrome clinical characterization. Holguin province

Fundamento: El síndrome de Usher es una enfermedad determinada genéticamente, con una gran heterogeneidad clínica y genética; está caracterizada por hipoacusia neurosensorial de moderada a severa, retinosis pigmentaria progresiva y puede acompañarse de alteración vestibular. Por la alta prevalencia de esta enfermedad en la provincia de Holguín, se considera necesario este estudio. Objetivo: Caracterizar clínicamente todos los enfermos con diagnóstico clínico de síndrome de Usher en la provincia Holguín, en el período de enero del 2009 a enero del 2016. Metodología: Se realizó un estudio descriptivo, retrospectivo, tipo serie de casos, a los 53 pacientes con diagnóstico clínico de síndrome de Usher en la provincia Holguín. La muestra estuvo formada por los 53 enfermos residentes en la provincia. Se revisaron los registros del Centro Provincial de Retinosis Pigmentaria y las historias clínicas de estos pacientes; se recogieron los datos de interés en un instrumento que se confeccionó para ello. Las variables estudiadas fueron el sexo, la edad, edad del diagnóstico de la hipoacusia y severidad, edad del diagnóstico de la retinosis pigmentaria y los resultados de las pruebas audiológicas, lo que permitió conocer la función vestibular. Resultados: Se caracterizó clínicamente el 100 % de los enfermos estudiados. Predominó el sexo masculino (60,37 %). El 80 % presentó la retinosis pigmentaria en la primera infancia y la hipoacusia congénita profunda en 67,92 %. Las pruebas vestibulares demostraron que el 71,70 % presenta síndrome de Usher tipo II y el 28,30 % tiene el tipo I. Conclusiones: Predominó el sexo masculino, la hipoacusia precedió a la alteración visual. Se logró caracterizar clínicamente a estos afectados. Prevaleció el síndrome de Usher tipo II.

Background: Usher syndrome is a genetically determined disease with great clinical and genetic heterogeneity. This disease is characterized by sensorineural hearing loss of moderate to severe, progressive pigmentosa retinitis and may be accompanied by vestibular alteration. At the high prevalence of this disease in the province of Holguin, this study is considered necessary. Objective: To characterize all patients clinically with clinical diagnosis of Usher syndrome in Holguin province, in the period from January 2009 to January 2016. Methodology: A series types of retrospective cases, descriptive study with 53 patients with clinical diagnosis of Usher syndrome in Holguin province was conducted. The sample consisted of 53 patients residing in the province. Provincial records Pigmentosa Retinitis Pigmentosa Center and the medical records of these patients were reviewed, the data of interest are collected in an instrument that was drawn up for these. The variables studied were sex, age, age at diagnosis of hearing loss and severity, age of diagnosis of pigmentosa retinitis and the results of the audiological tests, allowing knowing the vestibular function. Results: It was possible to clinically characterize 100 % of the patients studied, predominantly male in a 60.37 %. 80 % had pigmentosa retinitis in early childhood and profound congenital hearing loss in 67.92 %. Vestibular tests showed that 71. 70 % have Usher syndrome type II and 28.30 % have the type I. Conclusions: mainly males, hearing loss preceded visual impairment. It was possible to clinically characterize those affected. It prevailed Usher syndrome type II.

Hirschsprung disease and hepatoblastoma: case report of a rare association / Doença de Hirschsprung e hepatoblastoma: relato de caso de uma associação rara

ABSTRACT CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma is a malignant liver neoplasm that usually occurs in children aged 6 months to 3 years, with a prevalence of 0.54 cases per 100,000. CASE REPORT: A boy diagnosed with intestinal atresia in the first week of life progressed to a diagnosis of comorbid Hirschsprung disease. Congenital cataracts and sensorineural deafness were diagnosed. A liver mass developed and was subsequently confirmed to be a hepatoblastoma, which was treated by means of surgical resection of 70% of the liver volume and neoadjuvant chemotherapy (ifosfamide, cisplatin and doxorubicin). CONCLUSION: It is known that Hirschsprung disease may be associated with syndromes predisposing towards cancer, and that hepatoblastoma may also be associated with certain congenital syndromes. However, co-occurrence of hepatoblastoma and Hirschsprung disease has not been previously described. We have reported a case of a male patient born with ileal atresia, Hirschsprung disease and bilateral congenital cataract who was later diagnosed with hepatoblastoma.

RESUMO CONTEXTO: A doença de Hirschsprung é uma desordem do desenvolvimento do sistema nervoso entérico, que é caracterizada pela ausência de células ganglionares no intestino distal, ocorrendo em cerca de 1 a cada 500.000 nascimentos. O hepatoblastoma é uma neoplasia maligna do fígado que geralmente ocorre em crianças de 6 meses a 3 anos, com prevalência de 0,54 casos por 100.000. RELATO DE CASO: Um menino com diagnóstico de atresia intestinal na primeira semana de vida evoluiu com diagnóstico concomitante de doença de Hirschsprung. Catarata congênita e surdez neurossensorial foram diagnosticadas. Surgiu lesão hepática com posterior confirmação de hepatoblastoma, tratado com ressecção cirúrgica de 70% do volume hepático e quimioterapia neoadjuvante (ifosfamida, cisplatina e doxorubicina). CONCLUSÃO: Sabe-se que a doença de Hirschsprung pode estar associada a síndromes de predisposição ao câncer, da mesma forma que o hepatoblastoma já foi correlacionado a certas síndromes congênitas malformativas. No entanto, até o momento, a associação de hepatoblastoma com a doença de Hirschsprung não foi descrita. Relatamos o caso de um menino que nasceu com atresia ileal, doença de Hirschsprung, catarata congênita bilateral e com posterior diagnóstico de hepatoblastoma.

Índice Percentual de Identificação de Fonemas Fricativos: proposta para avaliação da compressão de frequências / Fricative Phonemes Identification Index: proposal for frequency compression evaluation

RESUMO Objetivo Desenvolver um teste para avaliar a compressão de frequências por meio da identificação de fonemas fricativos e aplicá-lo. Métodos Organizou-se um material de fala composto por 24 palavras monossilábicas, contendo os fonemas /s, z, f, v, ∫, 3/. As palavras foram gravadas por oito sujeitos, totalizando uma amostra de 192 gravações. Aplicaram-se filtros passa-baixas nas palavras com frequências de cortes em 1,5 kHz; 2 kHz e 3 kHz, a fim de impedir a detecção sonora nas faixas de frequências filtradas, simulando perdas auditivas em frequências altas. Aplicou-se o teste em dez indivíduos normo-ouvintes, que deveriam ouvir a palavra e identificá-la na tela de um computador. Foram oferecidas 12 opções de resposta, fixando a vogal e variando o fonema fricativo inicial e a presença da fricativa final /s/. O teste foi composto por 384 repetições de palavras, sendo 192 com compressão de frequências. As respostas foram computadas e comparadas por meio de testes estatísticos. Resultados A identificação dos fonemas foi favorecida pelo aumento da frequência de corte, exceto em 3 kHz. Houve melhora na identificação dos fonemas fricativos /∫, 3/ com o uso da compressão de frequências, porém, para os demais fonemas avaliados (/f, v/ e /s, z/) não houve diferenças. Conclusão O teste de identificação de fonemas fricativos se mostrou eficiente e confiável. Para as frequências de corte em 1,5 kHz e 2 kHz, a compressão de frequências foi eficaz para a identificação dos fonemas fricativos /∫, 3/, porém, a identificação do /s/ final mostrou-se comprometida pelo algoritmo.

ABSTRACT Purpose Develop a test to evaluate frequency compression by identifying and applying fricative phonemes. Methods A speech material was composed of 24 monosyllabic words, containing the phonemes /s, z, f, v, ∫, 3/. Eight subjects recorded words, for a total sample of 192 recordings. Low-pass filters were applied to words with cutoff points values of 1,5 kHz; 2 kHz e 3 kHz, in order to prevent sound detection in the filtered frequency bands, simulating hearing loss at high frequencies. The test was applied to ten normal hearing individuals, who had to listen to the word and identify it on a computer screen. Twelve response options were offered, fixing the vowel and varying the initial fricative phoneme and the presence of the final fricative /s/. The test consisted of 384 word repetitions, 192 with frequency compression. Responses were computed and compared using statistical tests. Results The identification of the phonemes was favored by the increase of the cutoff frequency, except in 3 kHz. There was improvement in the identification of fricative phonemes /∫, 3/ with the use of frequency compression, however, for the other assessed phonemes (/f, v/ e /s, z/) no differences were found. Conclusion The identification test of fricative phonemes was efficient and reliable. For the cutoff frequencies in 1,5 kHz e 2 kHz, the frequency compression was effective for the identification of the fricative phonemes /∫, 3/, however the identification of /s/ at the end was affected by the algorithm.

Investigation of neutrophil-to-lymphocyte ratio and mean platelet volume in sudden hearing loss, / Investigação da relação neutrófilos/linfócitos e volume médio de plaquetas na surdez súbita

ABSTRACT INTRODUCTION: Several theories attempt to explain the pathophysiology of sudden hearing loss. OBJECTIVE: The objective of this study was to investigate the possible role of inflammation and atherothrombosis in sudden hearing loss patients through the neutrophil-to-lymphocyte ratio and mean platelet volume. METHODS: Study design - retrospective cross-sectional historical cohort. This study was conducted on two groups: one with 59 individuals diagnosed with sudden hearing loss, and other with 59 healthy individuals with the same characteristics of gender and age distribution, neutrophil-to-lymphocyte ratio and mean platelet volume levels were measured in patients diagnosed with sudden hearing loss as well as in the control group, and it was verified whether these results interfered for a better or worse prognosis with treatment of sudden deafness. RESULTS: Neutrophil-to-lymphocyte ratio levels are much higher in patients diagnosed with sudden hearing loss compared to the control group. Similarly, mean levels of neutrophil-to-lymphocyte ratio are higher in non-recovered versus recovered patients (p = 0.001). However, we could not find a correlation with mean platelet volume levels (p > 0.05). CONCLUSION: Neutrophil-to-lymphocyte ratio is a quick and reliable indicator regarding diagnosis and prognosis of sudden hearing loss; on the other hand, mean platelet volume may be considered a less important indicator in this aspect.

RESUMO INTRODUÇÃO: Várias teorias tentam explicar a fisiopatologia da surdez súbita (SS). OBJETIVO: O objetivo deste estudo foi investigar o possível papel da inflamação e da aterotrombose nos pacientes de SS através da relação neutrófilos/linfócitos (RNL) e volume plaquetário médio (VPM). MÉTODO: Forma de estudo - coorte histórica com corte transversal (retrospectivo). Este estudo foi realizado com 59 indivíduos portadores de SS e 59 saudáveis, com as mesmas características em distribuição de gênero e idade. Os níveis de VPM e RNL foram medidos nos pacientes diagnosticados com SS e no grupo controle, verificando-se se tais resultados implicavam em um melhor ou pior prognóstico com o tratamento da surdez súbita. RESULTADOS: Os níveis da RNL são muito mais altos em pacientes com SS, em comparação com o grupo controle. De forma semelhante, níveis médios da RNL são mais altos nos pacientes não recuperados, em comparação com os recuperados (p = 0,001). Essas diferenças entretanto, não foram observadas em relação aos níveis de VPM (p > 0,05). CONCLUSÃO: RNL é um indicador rápido e confiável no que diz respeito ao diagnóstico e prognóstico de SS; por outro lado, VPM pode ser um indicador menos importante neste aspecto.

Investigation of neutrophil-to-lymphocyte ratio and mean platelet volume in sudden hearing loss.

INTRODUCTION: Several theories attempt to explain the pathophysiology of sudden hearing loss. OBJECTIVE: The objective of this study was to investigate the possible role of inflammation and atherothrombosis in sudden hearing loss patients through the neutrophil-to-lymphocyte ratio and mean platelet volume. METHODS: Study design - retrospective cross-sectional historical cohort. This study was conducted on two groups: one with 59 individuals diagnosed with sudden hearing loss, and other with 59 healthy individuals with the same characteristics of gender and age distribution, neutrophil-to-lymphocyte ratio and mean platelet volume levels were measured in patients diagnosed with sudden hearing loss as well as in the control group, and it was verified whether these results interfered for a better or worse prognosis with treatment of sudden deafness. RESULTS: Neutrophil-to-lymphocyte ratio levels are much higher in patients diagnosed with sudden hearing loss compared to the control group. Similarly, mean levels of neutrophil-to-lymphocyte ratio are higher in non-recovered versus recovered patients (p=0.001). However, we could not find a correlation with mean platelet volume levels (p>0.05). CONCLUSION: Neutrophil-to-lymphocyte ratio is a quick and reliable indicator regarding diagnosis and prognosis of sudden hearing loss; on the other hand, mean platelet volume may be considered a less important indicator in this aspect.

Interferência binaural em idosos com perda auditiva neurossensorial / Binaural interference in elderly with sensorineural hearing loss

Este estudo tem como objetivo investigar a ocorrência da interferência binaural, o uso mono ou binaural das próteses auditivas e queixas de compreensão de fala no silêncio e no ruído em grupo de idosos com perda auditiva neurossensorial. Dessa forma, foi avaliado o reconhecimento de fala com e sem uso de próteses auditivas mono e binaural, e as habilidades de separação e integração binaural.

This article aims to investigate the occurrence of binaural interference, the use of mono or binaural hearing aids and complaints of lack of speech comprehension into silence and into noise in a group of elderly patients with sensorineural hearing loss. Thus, to evaluate the speech recognition with and without mono and binaural hearing aids and the skills of the binaural integration and separation.

Malformación congénita del oído interno bilateral y del conducto auditivo interno derecho en un paciente con hipoacusia profunda neurosensorial bilateral: Presentación de caso / Congenital Malformation of the Bilateral Inner Ear and the Right Internal Auditory Canal in a Patient with Deep Bilateral Sensorineural Hearing Loss: Case Report

La tomografía computarizada y la resonancia magnética se consideran estudios complementarios que constituyen una herramienta de gran valor para el diagnóstico de malformaciones que afectan el oído interno. Para el estudio de los elementos óseos la tomografía brinda mayor detalle; por su parte, la resonancia magnética se emplea para la evaluación del laberinto membranoso y de los nervios vestibulococlear y facial (VIII y VII pares craneales). Este artículo presenta el caso de un niño de 1 año que cursa con grave hipoacusia neurosensorial bilateral; por medio de TC y RM se pudo determinar malformación congénita del oído interno bilateral tipo cavidad común, la cual está asociada a atresia del conducto auditivo interno derecho. Esto permitió descartar otras patologías dentro de su diagnóstico diferencial, como aplasia coclear, anomalía quística cocleovestibular y aplasia de canales semicirculares.

CT and MRI are complementary studies and are a valuable tool for the diagnosis of malformations affecting the inner ear. Tomography provides greater detail in the study of bony elements. On the other hand, MRI is used to evaluate the membranous labyrinth and the vestibule-cochlear and facial nerve (cranial nerves VIII and VII). This review presents the case of a one-year old child coursing with severe bilateral sensorineural hearing loss. Bilateral congenital malformation common cavity type was diagnosed through CT and MRI, associated with atresia of the right internal auditory canal. This enabled to rule out other pathologies within its differential diagnosis, such as cochlear aplasia, cochleovestibular cystic anomaly and aplasia of semicircular canals.