Diagnóstico genético de la hipoacusia neurosensorial infantil / Genetic diagnosis of childhood sensorineural hearing loss

Introducción: La hipoacusia neurosensorial (HNS) congénita o de inicio precoz es una de las enfermedades hereditarias más frecuentes en nuestro medio y es la deficiencia sensorial más frecuente. Es importante realizar un estudio etiológico de la hipoacusia y el estudio genético mediante la secuenciación de nueva generación (NGS) es la prueba con mayor rendimiento diagnóstico. Nuestro estudio muestra los resultados genéticos obtenidos en una serie de pacientes con HNS congénita/de inicio precoz bilateral. Material y método: Se incluyeron 105 niños diagnosticados de HNS bilateral a los que se les realizó un estudio genético entre los años 2019 y 2022. El estudio genético consistió en una secuenciación masiva del exoma completo, filtrando el análisis para los genes incluidos en un panel virtual de hipoacusia con 244 genes. Resultados: Se obtuvo un diagnóstico genético en 48% (50/105) de los pacientes. Se detectaron variantes patogénicas y probablemente patogénicas en 26 genes diferentes, siendo los genes más frecuentemente afectados el gen GJB2, USH2A y STRC. De las variantes detectadas 52% (26/50) se asociaron a una hipoacusia no sindrómica, 40% (20/50) una hipoacusia sindrómica y 8% restante (4/50) se podían asociar tanto a una hipoacusia sindrómica como no sindrómica. Conclusiones: El estudio genético constituye una parte fundamental del diagnóstico etiológico de la HNS bilateral. Nuestra serie muestra que el estudio genético de la hipoacusia mediante NGS tiene un alto rendimiento diagnóstico y nos proporciona información de gran utilidad en la práctica clínica.(AU)

Introduction: Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL. Materials and methods: We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes). Results: 48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were GJB2, USH2A and STRC. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss. Conclusions: Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.(AU)

Diagnostic yield of genetic testing in adults with sensorineural hearing loss.

INTRODUCTION: The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL. MATERIALS AND METHODS: We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritised and analysed. RESULTS: 24% (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes. CONCLUSIONS: Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients.

Genetic diagnosis of childhood sensorineural hearing loss.

INTRODUCTION: Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL. MATERIALS AND METHODS: We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes). RESULTS: 48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were GJB2, USH2A and STRC. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss. CONCLUSIONS: Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.

Clinical experience with the Nurotron™ cochlear implant in a Spanish-speaking postlingual population: Clinical safety and audiological results.

OBJECTIVE: to assess clinical safety and postoperative audiological outcomes in postlingual deafness Spanish speaking patients, who underwent surgery with Nurotron™ cochlear implant. MATERIAL AND METHODS: Retrospective descriptive case series study. We performed follow-up of complications and audiological measurements before and after cochlear implantation. Patients with bilateral severe to profound sensorineural hearing loss or patients with unilateral deafness with/without tinnitus were included. Repeated-measures within-subjects for assess pure tone thresholds and speech performance (bilingual test) with a detailed monitoring to establish security or adverse effects were performed. Analysis of variance tests, repetitive measures, were used for statistical analysis. RESULTS: 31 patients were included, 17 (54.8%) men and 14 (45.2%) women. Mean age at the time of surgery was 49.82 ± 18.8 years. The mean follow-up of the group was 31.56 ± 9.57 months (minimum = 19.6 months and maximum = 52.50 months). As major complication one patient (3.23%) had a hard failure that required removal and re-implantation. 25.8% of the patients presented minor complications, the most frequent being vertigo/unsteadiness in 22.6%. The mean of language discrimination (free field at 65 dB SPL) was 62.19% ± 16.66; being 69.82% ± 7.35 in the group of severe to profound bilateral sensorineural hearing loss. A statistically significant reduction was observed in patients with tinnitus, assessed using the visual analogue scale, preoperative = 7.2 ± 1,6 vs postoperative (18months postoperative) = 1.7 ± 1.3 (p < .001). CONCLUSIONS: The Nurotron™ cochlear implant shows satisfactory audiological results, in accordance with what has been reported in the literature. Minor complications were similar to previous studies, but the percentage of hard failure should continue to be observed, which was higher than other reports with comparable follow-up.

Manifestaciones otorrinolaringológicas del Síndrome VEXAS. Revisión sistemática / Ear, nose, and throat manifestations of VEXAS Syndrome. Systematic review

Introducción y objetivo: El síndrome VEXAS (SV) es una entidad de descripción reciente que afecta fundamentalmente a varones, y se debe a una mutación somática en el gen UBA1. Puede cursar con múltiples manifestaciones sistémicas, siendo la afectación de cabeza y cuello muy frecuente. El objetivo de este estudio fue describir las manifestaciones otorrinolaringológicas del SV, que contribuyan a un diagnóstico y tratamiento temprano de la enfermedad. Método: Se realizó una revisión de la literatura médica, utilizando los criterios PRISMA adaptados al tipo de estudio, de las manifestaciones otorrinolaringológicas del SV, utilizando la base de datos PubMed. Resultados: Fueron incluidos en nuestro trabajo 81 artículos que cumplían los criterios de inclusión del mismo, los cuales describían 133 casos. Los resultados mostraron que el SV se produce, sobre todo, en varones mayores de 50 años de edad, presentando en más de la mitad de los casos, manifestaciones de cabeza y cuello, entre las que destacan la CA, la condritis nasal y el edema periorbitario. Conclusiones: Con frecuencia el SV es confundido, en los pacientes con manifestaciones otorrinolaringológicas, con la policondritis recurrente. El conocimiento por parte del otorrinolaringólogo de las manifestaciones de cabeza y cuello asociadas al mismo, puede contribuir a un diagnóstico y tratamiento temprano mejorando el pronóstico de la enfermedad. (AU)

Introduction and objectives: VEXAS syndrome (VS) is a recently described clinical entity that mainly affects males, and is due to a somatic mutation in the UBA1 gene. It can present with multiple systemic manifestations, especially hematological and dermatological, being the affectation of the head and neck very frequent, especially, auricular chondritis (AC). The objective of this study was to describe the otorhinolaryngological manifestations of VS, knowledge of which by the otolaryngologist could contribute to early diagnosis and treatment of the disease. Methods: A review of the medical literature was carried out, using the PRISMA criteria adapted to the type of study, of the otorhinolaryngological manifestations of VS, from its description in the year 2020 to December 2022, using the Pubmed database. Results: 81 articles that met the inclusion criteria were included in our work, which described 133 cases in detail. The results showed that VS occurs mainly in men over 50 years of age, presenting in more than half of the cases head and neck manifestations, among which AC, nasal chondritis and periorbital edema stand out. Conclusions: Since VS can affect any part of the body, mimicking the clinical pictures of other diseases, it has often been confused, in patients with otorhinolaryngological manifestations, especially with recurrent polychondritis. Knowledge by the otolaryngologist of the head and neck manifestations associated with it can contribute to early diagnosis and treatment, improving the prognosis of the disease. (AU)

Evaluation of von Willebrand factor and protein/creatinine ratio in idiopathic sudden hearing loss / Evaluación del Factor Von Willebraund y la Relación Proteína/Creatinina en la Hipoacusia Súbita Idiopática

Objective The objective of this study was to evaluate the levels of von Willebraund Factor (vWF) in plasma and the protein/creatinine ratio in urine in patients with idiopathic sudden acute hearing loss, which we think to be caused by epithelial dysfunction. Materials-Methods Thirty patients with a sudden hearing loss and thirty healthy individuals were included in the study. Before the treatment, blood and urine were collected from the patients and the control group to investigate the levels of the protein/creatinine ratio and the levels of vWF. The test results of the patients group were compared with those of the control group. Results We found that the levels of vWF increased in the patient group, which was statistically significant (P<.05). The protein/creatinine ratio in the urine increased in the patient group, but this was not statistically significant (P>.05). In addition, we found that the vWF and urine protein/creatin ratio of the patients who benefited from treatment were lower than those who did not benefit. Conclusions This study showed that sudden sensorineural hearing loss may result from endothelial dysfunction. However, more studies that include more patients are needed in order to support this. (AU)

Objetivo El objetivo de este estudio fue evaluar los niveles de factor de von Willebraund (vWF) en plasma y la relación proteína/creatinina en orina en pacientes con hipoacusia aguda súbita idiopática, que creemos que es causada por una disfunción epitelial. Material-Método Treinta pacientes con hipoacusia súbita y treinta individuos sanos fueron incluidos en el estudio. Antes del tratamiento, se recogieron sangre y orina de los pacientes y del grupo de control para investigar los niveles de relación proteína/creatinina y los niveles de vWF. Los resultados de las pruebas del grupo de pacientes se compararon con el grupo de control. Resultados En la literatura, se sabe que la cantidad de proteína en la orina y las elevaciones en los niveles de vWF en plasma son las consecuencias de la disfunción endotelial. Encontramos que los niveles de vWF aumentaron en el grupo de pacientes y esto fue estadísticamente significativo. Sin embargo, la relación proteína/creatinina en la orina aumentó en el grupo de pacientes, pero esto no fue estadísticamente significativo. Además, encontramos que el vWF y la relación proteína/creatina en orina de los pacientes que se beneficiaron del tratamiento fueron más bajos que los que no se beneficiaron. Conclusiones Este estudio muestra que la pérdida auditiva neurosensorial súbita puede resultar de una disfunción endotelial. Sin embargo, se necesitan más estudios que incluyan más pacientes para respaldar esto. (AU)

Evaluation of von Willebrand factor and protein/creatinine ratio in idiopathic sudden hearing loss.

OBJECTIVE: The objective of this study was to evaluate the levels of von Willebraund Factor (vWF) in plasma and the protein/creatinine ratio in urine in patients with idiopathic sudden acute hearing loss, which we think to be caused by epithelial dysfunction. MATERIALS-METHODS: Thirty patients with a sudden hearing loss and thirty healthy individuals were included in the study. Before the treatment, blood and urine were collected from the patients and the control group to investigate the levels of the protein/creatinine ratio and the levels of vWF. The test results of the patients group were compared with those of the control group. RESULTS: We found that the levels of vWF increased in the patient group, which was statistically significant (P<.05). The protein/creatinine ratio in the urine increased in the patient group, but this was not statistically significant (P>.05). In addition, we found that the vWF and urine protein/creatin ratio of the patients who benefited from treatment were lower than those who did not benefit. CONCLUSIONS: This study showed that sudden sensorineural hearing loss may result from endothelial dysfunction. However, more studies that include more patients are needed in order to support this.

Sudden sensorineural hearing loss: Recovery rates according to audiometric patterns.

PURPOSE: The aim of this study was to evaluate the different audiometric patterns in sudden sensorineural hearing loss (SSNHL), assess recovery rates based on the initial pattern and also, analyse the impact on speech discrimination scores (SDS). METHODS: A retrospective, descriptive, study was completed for patients with SSNHL from January 2010 until June 2020. Outcome measures included audiometric patterns, recovery rates, improvements over time for hearing loss as well as for SDS at 14 days and 3 months follow-up. The Kruskal-Wallis test and Mann-Whitney U test were used to compare differences between the different groups. Post-hoc testing involved the Wilcoxon signed-rank test. A P<0.05 was considered statistically significant. RESULTS: We included 211 patients, 64.3% showed downward-sloping or flat audiometric curves. Overall, 40% of the patients had recovered 50% or more of their hearing by day 14. We observed that hearing did improve over time, and this was more common for the upward-sloping cases, with 65% recovering to at least 50% of the maximum possible recovery by 3 months follow-up. Thirty percent had concomitant vertigo and/or dizziness; these patients had worse initial speech PTAs (pure tone average) (P≤0.0001) and inferior recovery rates (P=0.0007) as compared to patients without vertigo and/or dizziness. CONCLUSION: SSNHL is still a controversial topic. Variability was observed with regards to audiometric curves, recovery rates and SDS recovery. We provide a table with recovery rates based on audiometric patterns that may help guide clinicians when explaining this condition to their patients.

Sudden sensorineural hearing loss: Recovery rates according to audiometric patterns

Purpose: The aim of this study was to evaluate the different audiometric patterns in sudden sensorineural hearing loss (SSNHL), assess recovery rates based on the initial pattern and also, analyse the impact on speech discrimination scores (SDS).MethodsA retrospective, descriptive, study was completed for patients with SSNHL from January 2010 until June 2020. Outcome measures included audiometric patterns, recovery rates, improvements over time for hearing loss as well as for SDS at 14 days and 3 months follow-up. The Kruskal–Wallis test and Mann–Whitney U test were used to compare differences between the different groups. Post-hoc testing involved the Wilcoxon signed-rank test. A P<0.05 was considered statistically significant.ResultsWe included 211 patients, 64.3% showed downward-sloping or flat audiometric curves. Overall, 40% of the patients had recovered 50% or more of their hearing by day 14. We observed that hearing did improve over time, and this was more common for the upward-sloping cases, with 65% recovering to at least 50% of the maximum possible recovery by 3 months follow-up. Thirty percent had concomitant vertigo and/or dizziness; these patients had worse initial speech PTAs (pure tone average) (P≤0.0001) and inferior recovery rates (P=0.0007) as compared to patients without vertigo and/or dizziness.ConclusionSSNHL is still a controversial topic. Variability was observed with regards to audiometric curves, recovery rates and SDS recovery. We provide a table with recovery rates based on audiometric patterns that may help guide clinicians when explaining this condition to their patients. (AU)

Objetivo: El objetivo de este estudio fue evaluar los diferentes patrones audiométricos de la hipoacusia neurosensorial súbita (SSNHL), las tasas de recuperación sobre la base del patrón inicial, y analizar su impacto en las puntuaciones de discriminación del habla (SDS).MétodosSe realizó un estudio retrospectivo y descriptivo para pacientes con SSNHL desde enero de 2010 a junio de 2020. Los resultados incluyeron patrones audiométricos, tasas de recuperación, mejoras a lo largo del tiempo de la hipoacusia, así como de SDS a 14 días, y transcurridos 3 meses. Se utilizaron la prueba de Kruskal-Wallis y U de Mann-Whitney para comparar las diferencias entre los diferentes grupos. Las pruebas post-hoc incluyeron la prueba de Wilcoxon de rango con signo. Se consideró un valor p<0,05 estadísticamente significativo.ResultadosIncluimos 211 pacientes, de los cuales el 64,3% presentó curvas descendentes o planas. En general, el 40% de los pacientes había recuperado el 50% o más de audición en el día 14. Observamos que la audición mejoró con el tiempo, siendo esto más común para los casos de curva ascendente, en los que el 65% había recuperado al menos el 50% del valor máximo posible en el seguimiento a los 3 meses. El 30% tuvo vértigo y/o mareo concomitante, y estos pacientes reflejaron peores PTA iniciales del habla (medias de tonos puros) (p≤0,0001) y tasas de recuperación inferiores (p=0,0007) en comparación con los pacientes sin vértigo y/o mareo.ConclusiónLa SSNHL continua siendo tema controvertido. Se observó variabilidad con respecto a las curvas audiométricas, tasas de recuperación y recuperación de SDS. Aportamos aquí una tabla que incluye las tasas de recuperación basadas en patrones audiométricos, que puede ayudar a los clínicos a la hora de explicar esta situación a sus pacientes. (AU)

Blood Viscosity in COVID-19 Patients With Sudden Deafness.

BACKGROUND: Changes in blood viscoelastic properties have been proposed previosuly as etiopathogenesis for severe complications in COVID-19 and some cases of Sudden Deafness (SD). This is an attempt to verify if SD cases in patients admitted for SARS-Cov-2 infection can be correlated. PATIENTS AND METHODS: A prospective follow-up was carried out with COVID-19 patients, monitoring their blood viscosity (BV) at high shear rate (300 s-1) and inquiring them periodically for eventual hearing loss. This measurement was extended to cases bearing of SD in 2019 and 2020 without infection and a control group of healthy normoacoustic subjects. RESULTS: The normality range was 4,16 ± 0,62 cps. 330 cases admitted for COVID-19 were evaluated from February 24th, 2020 to March 24th, 2021, 85 of them attended in ICU. After anamnesis and Audiometric Tone Thresholds developed as soon as possible, 9 SD were detected, all belonging to ICU group. The mean BV was 4,38 ± 0,43 cps in the ward group, 4,53 ± 0,39 cps in the ICU patients without SD, and 4,85 ± 0,52 cps in the cases with SD, with statistically significant differences. Highest BV elevations in the SD cases were detected between days 6 and 10 of hospital admission. In 2019 four cases consulted with SD, and another two did it in 2020 without a diagnosis of COVID-19, with normal BV values. CONCLUSIONS: During SARS-Cov-2 infection, patients may show high BV and SS, although an inpatients control group and a larger sample volume are necessary to confirm the predisposition to hyperviscosity. The incidence of hearing damage is considerable if its possible appearance is taken into account, within the limitations of critical patients with COVID-19.

Viscosidad sanguínea en pacientes COVID-19 con sordera súbita / Blood viscosity in COVID-19 patients with sudden deafness

Antecedentes: La alteración en las propiedades viscoelásticas de la sangre ha sido anteriormente propuesta como etiopatogenia de complicaciones severas por COVID-19 y algunos casos de sordera súbita (SS). Pretendemos verificar si la aparición de casos de SS en pacientes ingresados por infección por SARS-CoV-2 puede correlacionarse de este modo. Pacientes y métodos: Estudio longitudinal prospectivo de pacientes ingresados en nuestro Centro por COVID-19, efectuando monitorización de la viscosidad sanguínea (VS) a alta velocidad de cizallamiento (300 seg-1) y un requerimiento periódico personal sobre hipoacusia. Esta determinación se extendió a casos atendidos por SS sin infección en 2019 y 2020 y un grupo control de sujetos sanos normoacúsicos. Resultados: El rango de normalidad se situó en 4,16±0,62 cps. Entre el 24 de febrero de 2020 y el 24 de marzo de 2021 se evaluaron 330 casos ingresados por COVID-19, 85 asistidos en la Unidad de Cuidados Intensivos (UCI). Fueron identificadas tras anamnesis y Audiometría Tonal Liminar (ATL) todo lo inmediata que el status clínico lo permitió hasta nueve casos con SS, todos pertenecientes al grupo de UCI. La VS media fue 4,38±0,43 cps en el grupo de sala, 4,53±0,39 cps en los pacientes en UCI sin SS, y 4,85±0,52 cps en los casos con SS, con diferencias estadísticamente significativas. Las mayores elevaciones de la VS en los casos con SS se detectaron entre los días seis y 10 del ingreso hospitalario. En 2019 consultaron cuatro casos y otros 2 en 2020 sin diagnóstico de COVID-19, con valores normales de VS. Conclusiones: Durante la infección por SARS-CoV-2 los pacientes pueden presentar elevación en la VS y SS, si bien se hacen necesarios un grupo control hospitalario y un volumen muestral mayor para confirmar la predisposición a la hiperviscosidad. La incidencia del daño auditivo resulta considerable si se tiene en cuenta su posible aparición en pacientes críticos con COVID-19. (AU)

Background: Changes in blood viscoelastic properties have been proposed previosuly as etiopathogenesis for severe complications in COVID-19 and some cases of Sudden Deafness (SD). This is an attempt to verify if SD cases in patients admitted for SARS-CoV-2 infection can be correlated. Patients and methods: A prospective follow-up was carried out with COVID-19 patients, monitoring their blood viscosity (BV) at high shear rate (300 sec-1) and inquiring them periodically for eventual hearing loss. This measurement was extended to cases bearing of SD in 2019 and 2020 without infection and a control group of healthy normoacoustic subjects. Results: The normality range was 4,16±0,62 cps. 330 cases admitted for COVID-19 were evaluated from February 24th, 2020 to March 24th, 2021, 85 of them attended in ICU. After anamnesis and Audiometric Tone Thresholds developed as soon as possible, 9 SD were detected, all belonging to ICU group. The mean BV was 4,38±0,43 cps in the ward group, 4,53±0,39 cps in the ICU patients without SD, and 4,85±0,52 cps in the cases with SD, with statistically significant differences. Highest BV elevations in the SD cases were detected between days 6 and 10 of hospital admission. In 2019 four cases consulted with SD, and another two did it in 2020 without a diagnosis of COVID-19, with normal BV values. Conclusions: During SARS-CoV-2 infection, patients may show high BV and SS, although an inpatients control group and a larger sample volume are necessary to confirm the predisposition to hyperviscosity. The incidence of hearing damage is considerable if its possible appearance is taken into account, within the limitations of critical patients with COVID-19. (AU)

Intervención educativa en adultos mayores hipoacúsicos sobre el uso de audífonos para la rehabilitación auditiva / Educative intervention for hearing impaired older adults on the use of hearing aids for auditory rehabilitation / Intervenção educativa em idosos com deficiência auditiva sobre o uso de aparelhos para reabilitação auditiva

RESUMEN Introducción: La educación de los pacientes adultos mayores hipoacúsicos sobre su enfermedad y el uso de audífonos es una exigencia social. Objetivo: Diseñar e implementar una intervención educativa dirigida a la preparación de los pacientes adultos mayores con hipoacusia neurosensorial respecto al uso de audífonos para la rehabilitación auditiva atendidos en el Centro Auditivo "Dr. Mario Velázquez Leal" de la provincia de Guantánamo en el año 2019. Método: Se realizó un pre experimento en 80 pacientes con hipoacusia neurosensorial que utilizaron audífonos. El estímulo consistió en la implementación de una intervención educativa dirigida a su preparación respecto al tema hipoacusia y el uso de audífonos para la rehabilitación auditiva. Resultados: El 88,7 % de los pacientes consideró que la hipoacusia limitaba la calidad de vida y el 87,5 % reconoció que asumía una actitud inadecuada para el control de la discapacidad, lo que indicó la necesidad de educarlos respecto al tema. El 36,2 % de ellos está adecuadamente preparado sobre el tema, luego de la intervención educativa esta proporción se elevó hasta el 93,7 %. Conclusiones: Se identifica que los pacientes adultos mayores con hipoacusia neurosensorial que utilizan audífonos para la rehabilitación auditiva muestran carencias teóricas sobre el tema hipoacusia y uso de audífonos, que son resueltas con el diseño e implementación de una intervención educativa dirigida a su preparación para esta finalidad.

ABSTRACT Introduction: Educating the older hearing impaired patients about their condition and the use of hearing aids is a social requirement. Objective: To design and implement an educative intervention aimed at preparing older adult patients with presence of sensorineural hearing loss regarding the use of hearing aids for auditory rehabilitation attended at the Centro Auditivo "Dr. Mario Velázquez Leal", Guantánamo, in 2019. Method: A pre-experimental study was conducted on 80 patients with sensorineural hearing loss who used hearing aids. The stimulus consisted on the implementation of an educative intervention aimed at preparing them for appearance hearing loss and the use of hearing aids for auditory rehabilitation. Results: The 88.7% of patients considering that hearing loss is a problem in health and 87.5% recognized that they had an inadequate attitude towards the management of their impairment, which revealed the need to educate them on the subject. The 36.2% of patients were adequately prepared on the subject, but after the educative intervention this proportion rose to 93.7%. Conclusions: It is marked that older adult patients with sensorineural hearing loss, who use hearing aids for auditory rehabilitation, demonstrated theoretical deficiencies on the hearing loss and use of hearing aids subject, which are solved with the design and implementation of an educative intervention aimed at preparing the patients for this purpose.

RESUMO Introdução: A educação dos pacientes idosos com deficiência auditiva sobre a sua doença eo uso de aparelhos auditivos é uma exigência social. Objetivo: Projetar e implementar uma intervenção educativa destinada a preparar pacientes idosos com perda auditiva neurossensorial em relação ao uso de aparelhos auditivos para reabilitação auditiva atendidos no Centro Auditivo "Dr. Mario Velázquez Leal" da província de Guantánamo durante 2019. Método: Um pré-experimento foi realizado em 80 pacientes com perda auditiva neurossensorial que usou aparelhos auditivos. O estímulo consistiu na implementação de uma intervenção educacional que visa a sua preparação em relação à questão da perda e do uso de aparelhos auditivos para reabilitação auditiva. Resultados: 88,7% dos pacientes consideraram que a perda auditiva limitou sua qualidade de vida e 87,5% reconheceram que assumiram uma atitude inadequada para controlar a deficiência, o que indicou a necessidade de educá-los sobre o assunto. 36,2% deles estão adequadamente preparados sobre o assunto, após a intervenção educativa essa proporção subiu para 93,7%. Conclusões: Identifica-se que pacientes idosos com perda auditiva neurossensorial usuários de aparelhos para reabilitação auditiva apresentam deficiências teóricas sobre o tema perda auditiva e uso aparelhos auditivos, as quais são sanadas com a concepção e implementação de uma intervenção educativa voltada à sua preparação. para este propósito.

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.

Prevalence of presbycusis in an otologically normal population.

OBJECTIVE: Presbycusis or age-related hearing loss is a bilaterally symmetric sensorineural hearing loss associated exclusively with age, excluding any other causes of hearing loss. Presbycusis is very relevant because of its high prevalence, and its consequences (e.g., alterations in communication, social isolation, depression, dementia), and the economic impact. This paper reports the first attempt to estimate the prevalence of presbycusis in an otologically normal population, i.e., without previous ear disease, exposure to noise, or potentially ototoxic substances, or familial hearing loss. METHODS: A total of 4290 subjects from 5 to 90 years old were included in the study. RESULTS: No statistically significant differences were found between right and left ear, nor between males and females, in any of the age groups. Presbycusis was detected over 60 years following the WHO classification; although the results vary depending on the classification used. Moderate hearing loss (≥ 41dB) was detected in the population over 72 years. None of the subjects had severe or profound hearing impairment. The prevalence of presbycusis increased with age, being 100% in individuals aged 80 years and older. The prevalence of presbycusis is highly variable depending on the pure-tone averaged frequencies and the classification system used; therefore, a common classification system should be used. CONCLUSIONS: An otologically normal population is needed to establish the prevalence of presbycusis as in non-screened populations it is the hearing level including all types of hearing loss that is measured, but not presbycusis itself.

Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit. / Utilidad clínica de la secuenciación de nueva generación en el diagnóstico etiológico de la hipoacusia neurosensorial en una Unidad de Hipoacusia Infantil.

INTRODUCTION: Sensorineural hearing loss (SNL) is the most prevalent sensory deficit in our environment. Next generation genomic sequencing (NGS) enables an aetiological diagnosis in a high percentage of patients. Our pilot study shows the results of the systematic application of NGS in a Childhood Hearing Loss Unit, as well as its implications for the clinical management of patients and their families. MATERIAL AND METHOD: We included 27 patients diagnosed with SNL between 2014 and 2017, in which an environmental cause was ruled out. The genetic test consisted of a panel of genes analyzed by NGS (OTOgenicsTM panel). This panel has been designed to include genes associated with sensorineural or mixed hearing loss, early onset or late, syndromic and non-syndromic, regardless of their inheritance pattern. RESULTS: A genetic diagnosis was obtained in 56% (15/27) of the patients (62% in the case of bilateral SNL). Of the patients, 5/27 (19%) presented pathogenic variants in the GJB2 gene and the rest pathogenic and / or probably pathogenic variants in other genes associated with isolated SNL (PR2X2, TECTA and STRC), with syndromic SNL (CHD7, GATA3, COL4A5, MITF and SOX10) or with syndromic and non-syndromic SNL (BSND, ACTG1 and CDH23). DISCUSSION: The aetiological diagnosis of SNL is a challenge in clinical practice. Our series demonstrates that it is possible to implement genetic diagnosis in the care routine and that this information has prognostic and therapeutic implications.

Hipoacusia Neurosensorial súbita y COVID 19 / Sudden Sensirineural Hearing Loss (SSHL) and COVID 19

La enfermedad por COVID 19 es una infección viral causada por el agente etiológico SARS Cov 2; presenta una gama de características clínicas incluyendo síntomas neurológicos, afectando neuronas, células gliales y nervios; formando parte del grupo de etiología de la hipoacusia neurosensorial. Se realiza este reporte de caso de hipoacusia súbita neurosensorial unilateral acompañada de tinnitus en paciente con antecedente de SARSCov2 Positivo, describiendo los principales hallazgos otológicos y audiológicos en el proceso de evaluación diagnóstico. La afectación por el virus nCoV-19 tiene incidencia en la pérdida auditiva, como se describe en estudios de casos reportados internacionales.

COVID 19 disease is a viral infection caused by the etiologic agent SARS Cov 2; presents a range of clinical features including neurological symptoms, affecting neurons, glial cells, and nerves; forming part of the etiology group of sensorineural hearing loss. This case report of sudden unilateral sensorineural hearing loss accompanied by tinnitus is made in a patient with a history of SARSCov2 Positive, describing the main otological and audiological findings in the diagnostic evaluation process. The involvement by the nCoV-19 virus has an incidence on hearing loss, as described in international reported case studies.

Implante coclear de titanio para hipoacusia neurosensorial / Titanium cochlear implant for hearing loss neurosensory

INTRODUCCIÓN: Este documento técnico se realiza a solicitud del Instituto Nacional de Salud del Niño - San Borja. a. Cuadro clínico: La hipoacusia de tipo neurosensorial severa a profunda se considera una situación incapacitante cuando existe una pérdida de más de 90 dB en las frecuencias del habla. Existe una afección en el oído interno (cóclea) o, a veces, al nervio auditivo (VII par craneal). Con frecuencia es permanente y requiere algún tipo de rehabilitación como el uso de un audífono. Suele ser la causa más común de pérdida permanente de audición a pesar de la funcionalidad del oído externo y oído medio. El tratamiento de estos pacientes se realiza con una etapa de estimulación acústica con audífonos y posterior inserción del implante coclear (IC). b. Tecnología sanitaria: Los IC son dispositivos que estimulan eléctricamente el nervio auditivo y permiten que las personas con pérdidas auditivas profunda reconozcan el sonido. Este dispositivo consta de dos componentes, un componente interno con un receptor y electrodos que se implanta en el oído durante un procedimiento quirúrgico; y un componente externo con micrófono, procesador de voz y transmisor. Puede tener diferentes materiales, siendo el más común el titanio. OBJETIVO: Evaluar la eficacia y seguridad, así como documentos relacionados a la decisión de cobertura del implante coclear de titanio en la hipoacusia severa neurosensorial. METODOLOGÍA: Se realizó una búsqueda en las principales bases de datos bibliográficas: MEDLINE (PubMed), LILACS, COCHRANE, así como en buscadores genéricos de Internet incluyendo Google Scholar y TRIPDATABASE para identificar revisiones sistemáticas (RS) y ensayos clínicos aleatorizados (ECAs). Adicionalmente, se hizo una búsqueda dentro de la información generada por las principales instituciones internacionales de otorrinolaringología y agencias de tecnologías sanitarias que realizan evaluación de tecnologías sanitarias (ETS), guías de práctica clínica (GPC) y evaluaciones económicas (EE) de la región. RESULTADOS: No se identificaron estudios que mencionaran específicamente IC de titanio. Toda la evidencia seleccionada menciona esta tecnología sanitaria independientemente del material, sin hacer distinción. Se seleccionaron tres RS, tres GPC y una ETS. No se encontraron EE de la región. CONCLUSIONES: -No se encontró evidencia de IC de titanio específicamente, siendo siempre evaluado IC de forma general como una tecnología sanitaria única independientemente del material. La evidencia disponible respecto a IC en hipoacusia neurosensorial severa a profunda es moderada. Comparado con no usar un dispositivo, la evidencia sugiere un posible beneficio del IC al evaluar la percepción del habla, la localización del sonido, el desarrollo del lenguaje y calidad de vida en adultos y niños. Sin embargo, se debe considerar que la evidencia procede principalmente de estudios observacionales con muy alto riesgo de sesgo. -Las GPC y la ETS identificadas recomiendan el uso del IC, mientras que unas la recomiendan como opción dependiendo de las preferencias del médico y paciente, otros documentos la recomiendan en pacientes que no obtuvieron beneficio post-audífonos convencionales.

Hipoacusia neurosensorial adquirida asociada a alteraciones vestibulares y / o control postural / Neurosensorial acquired hypoacusia associated with vestibular alterations and / or postural control

La otitis media aguda es una infección del oído medio con alta prevalencia en población pediátrica, las complicaciones pueden generar desde hipoacusia neurosensorial de diverso grado hasta alteración vestibular y/o control postural, aunque de ello no existen mayores reportes ni investigaciones en Chile. Por lo anterior, el objetivo fue asociar la hipoacusia neurosensorial a alteraciones vestibulares y/o de control postural. Se evaluó a un sujeto de sexo femenino, 13 años de edad, quien presentó múltiples cuadros de Otitis Media Aguda y fue diagnosticada con hipoacusia neurosensorial bilateral grado moderado. Antes del estudio, reportó desequilibrio y aumento de riesgo de caída. Se aplicaron test auditivos (timpanometría y audiometría), vestibulares (evaluación del VIII par craneal) y de control postural (posturógrafo y tests "Time up and go", Romberg y Romberg en tándem). Se encontraron alteradas la prueba de integración sensorial, con predominancia del hemicuerpo derecho, igualmente predominancia a alteraciones auditivas en el oído derecho ante pruebas que valoraron oído medio. Se observó una relación directa entre las alteraciones posturales y de equilibrio con el tipo y grado de pérdida auditiva que presenta el sujeto de estudio.

The acute otitis media is a middle ear infection with high prevalence in pediatric population, the complications could generate from sensorineural hearing loss to vestibular alteration and/or postural control, although, there aren´t report or researches of it in Chile. Therefore, the objective was to associate sensorineural hearing loss with vestibular alterations and/or postural control. We evaluated a female subject presenting multiple events of acute otitis media and she was diagnosed with sensorineural hearing loss middle grade. Before this study, she reported imbalance and falling risk. Hearing (tympanometry and audiometry), vestibular (evaluation of the VIII cranial nerve) and postural control tests were applied (posturography and "Time up and go", Romberg and Romberg in tandem test). It was found altered the integration sensorial test, with predominance to half body right and predominance of hearing impairment in the right ear to the middle ear evaluated evidence. It was observed a direct relation between postural alterations and balance with the hearing loss type from the subject of study.

Hearing in Paget's disease of bone. / La audición en la enfermedad ósea de Paget.

INTRODUCTION AND OBJECTIVES: Paget's disease of bone (PDB) may lead to hearing loss. The present study was conducted with the aim of measuring, characterizing and determining the risk factors for hearing loss in a group of subjects with PDB. METHODS: An observational, transversal, case-control study was conducted, a cohort of 76 subjects diagnosed with PDB in the case group and a control group of 134 subjects were included. Clinical, demographic and audiometric data were analysed. RESULTS: The comparative analysis between the subjects in the PDB group and the control group found that the case group showed higher hearing thresholds (39,51dB) compared with the control group (37.28dB) (P=.069) and presented a greater rate of conductive hearing loss (22.76%) than the control group (12.05%) (P=.0062). The study of risk factors for hearing loss found that skull involvement in bone scintigraphy, age and high blood pressure were risk factors for higher impairment in PDB. CONCLUSIONS: The subjects with PDB showed more profound and a higher proportion of conductive hearing loss than the control group. The patients with PDB and skull involvement presented a more severe hearing loss compared with the subjects without skull involvement. Skull involvement and age were found to be risk factors for hearing loss.

l-Thyroxine does not prevent immunemediated sensorineural hearing loss in autoimmune thyroid diseases.

OBJECTIVE: This is the first report dealing with immune-mediated inner ear disease (IMIED) hearing loss in a group of patients affected with autoimmune thyroid disease (AITD), whose treatment required corticosteroids, despite being treated with levothyroxine. Immunopathology linking the inner ear and the thyroid gland is also presented. PATIENTS: A total of 220 patients were selected with sensorineural hearing loss (SNHL) of causes other than presbycusis. Audiometry was performed and pure tone average was calculated before and after treatment with corticosteroids. RESULTS: Eighty-four (84) patients had SNHL of autoimmune origin, and 15 patients were diagnosed with AITD (Hashimoto's disease). Bilateral hearing loss was observed in 10 patients (66.5%). Sudden sensorineural hearing loss was the most frequent clinical form of presentation. Nine patients showed a hearing recovery greater than 10dB after corticosteroid treatment. CONCLUSIONS: Acquired hypothyroidism is thought to affect hearing due to different mechanisms. Although specific hormonal therapy may improve peripheral or central auditory disorders associated with hypothyroidism, the presence of IMIED in AITD patients requires another approach. Altered immune regulatory mechanisms involving Treg cells and CD4+CD45RO cells have been suggested in patients with AITD and IMIED. In the present study, although all the patients with hypothyroidism and subclinical hypothyroidism were being treated with levothyroxine, immune-mediated hearing loss was observed. Therapy with corticosteroids could achieve hearing recovery. Since inner ear and thyroid gland share possible antigen targets, we highlight the existence of IMIED in AITD patients and the importance of implementing appropriate therapy with corticosteroids.