Famílias ouvintes e filhos surdos: o papel da Libras na comunicação / Hearing families and deaf children: the role of Libras in communication / Familias oyentes y niños sordos: el papel de Lengua de Señas Brasileña em la comunicación

Introdução: A Língua Brasileira de Sinais (Libras) é uma língua de natureza visuo-motora com um sistema linguístico e estrutura gramatical próprio e sua aquisição em tempo oportuno é importante para o desenvolvimento cognitivo e comunicativo da criança surda. As famílias ouvintes de crianças surdas devem se engajar no aprendizado dessa língua, uma vez que na ausência do conhecimento da Libras, podem apresentar dificuldades de comunicação e de relacionamento com seu filho surdo. Objetivo: O objetivo deste estudo foi compreender o papel da Libras na comunicação de familiares ouvintes e seus filhos surdos atendidos em um centro de reabilitação. Métodos: Trata-se de um estudo transversal, de caráter qualitativo. Foi aplicado um roteiro de entrevista semiestruturado com 10 questões abertas a pais ouvintes de crianças surdas que participam de atendimentos em um centro de reabilitação. A análise dos dados foi realizada por meio do método análise de conteúdo. Resultados: Ao todo foram entrevistadas 10 mães de crianças surdas. As idades das mães variaram de 21 a 47 anos. Nove mães afirmaram usar a Libras em casa com seus filhos todos os dias e todas relataram usá-la em atividades cotidianas da criança. Todas as mães afirmaram que o uso da Libras trouxe benefícios para o relacionamento na díade mãe-filho. Conclusão: Os achados revelam um importante papel da Libras tanto na comunicação de familiares ouvintes e seus filhos surdos, como no cotidiano desses lares. (AU)

Introduction: The Brazilian Sign Language (Libras) is a visual-motor language with its linguistic system and grammatical structure and its timely acquisition is important for deaf children's cognitive and communicative development. Deaf children's hearing families should engage in learning this language, since not knowing Libras may lead to communication and relationship difficulties with their deaf children. Objective: This study aimed to understand the role of Libras in the communication between hearing family members and their deaf children treated at a rehabilitation center. Methods: This cross-sectional qualitative study applied a semi-structured interview with 10 open-ended questions to hearing parents of deaf children who receive care at a rehabilitation center. Data were analyzed with the content analysis method. Results: Altogether, 10 mothers of deaf children were interviewed. Their ages ranged from 21 to 47 years. Nine mothers said they used Libras at home with their children every day, and all reported using it in their child's daily activities. All mothers stated that the use of Libras brought benefits to the mother-child relationship. Conclusion: The findings highlight the important role of Libras in the daily lives and communication of hearing family members and their deaf children. (AU)

Introducción: La Lengua de Señas Brasileña (Libras) es una lengua visomotora con sistema lingüístico y estructura gramatical propios y su adquisición oportuna es importante para el desarrollo cognitivo y comunicativo del niño sordo. Las familias oyentes de niños sordos deben involucrarse en el aprendizaje de este idioma, ya que en ausencia del conocimiento de Libras, pueden tener dificultades en la comunicación y las relaciones con su hijo sordo. Objetivo: El objetivo de este estudio fue comprender el papel de Libras en la comunicación de los familiares oyentes y sus hijos sordos atendidos en un centro de rehabilitación auditiva. Métodos: Se trata de un estudio transversal, cualitativo. Se aplicó un guión de entrevista semiestructurada con 10 preguntas abiertas a padres oyentes de niños sordos que participan en el cuidado en un centro de rehabilitación. El análisis de los datos se realizó mediante el método de análisis de contenido. Resultados: En total, se entrevistaron 10 madres de niños sordos. Las edades de las madres oscilaron entre 21 y 47 años. Nueve madres dijeron que usan Libras en casa con sus hijos todos los días y todas informaron que lo usan en las actividades diarias de sus hijos. Todas las madres afirmaron que el uso de Libras trajo beneficios a la relación madre-hijo. Conclusión: Los hallazgos revelan un papel importante de Libra tanto en la comunicación de los miembros oyentes de la familia y sus hijos sordos, como en la vida diaria de estos hogares. (AU)

Atenção à saúde da mulher surda no ciclo gravídico-puerperal: uma revisão de escopo / Health care for deaf women in the puerperal pregnancy cycle: a scoping review / Atención a la salud de mujeres sordas en el ciclo embarazo-puerperal: una revisión del alcance

ResumoObjetivo: identificar e sumarizar as evidências disponíveis na literatura nacional sobre a atenção à saúde da mulher surda no ciclo gravídico-puerperal. Método: Estudo de revisão de escopo, segundo preceitos teóricos metodológicos do Joanna Briggs Institute. A busca foi realizada via periódicos CAPES, nas bases LILACS, MEDLINE via PubMed®, Biblioteca eletrônica SCIELO, WOS e CINAHL. Resultados: Identificaram-se 1.831 estudos, dos quais 12 compuseram a amostra final. As dificuldades na comunicação e ausência de profissionais capacitados em Libras, além de sofrimento, preconceito e discriminação, fazem parte da vivência da mulher surda no ciclo gravídico-puerperal. Conclusão: a produção do conhecimento no âmbito nacional sobre a assistência à mulher surda no período gravídico-puerperal ainda é incipiente e faz-se necessário fomento de estudos e práticas baseadas em evidências para a produção de iniciativas que dialoguem sobre a autonomia e o fortalecimento do exercício dos direitos sexuais e reprodutivos da mulher surda no Brasil.

AbstractObjective: to identify and summarize the evidence available in the national literature on health care for deaf women in the pregnancy-puerperal cycle. Method: Scope review studies according to theoretical and methodological precepts of the Joanna Briggs Institute. The research was performed via CAPES journals, in the bases LILACS; MEDLINE via PubMed®; SCIELO, WOS, and CINAHL electronic library. Results: A total of 1,831 studies were identified, and 12 made up the final sample. Difficulties in communication, and the lack of trained professionals in Libras, in addition to suffering, prejudice, and discrimination, are part of the experience of deaf women in the pregnancy-puerperal cycle. Conclusion: the production of knowledge at the national level about assistance to deaf women in the pregnancy-puerperal period is still leadoff, and encouraging studies and evidence-based practices to produce initiatives that dialogue about the autonomy and strengthening of the exercise of sexual and reproductive rights of deaf women in Brazil is necessary.

ResumenObjetivo: identificar y resumir las evidencias disponibles en la literatura nacional sobre la atención a la salud de la mujer sorda en el ciclo embarazo-puerperio. Método: Estudio de revisión de alcance según preceptos teóricos y metodológicos del Instituto Joanna Briggs. La investigación se realizó en las revistas CAPES, en las bases LILACS; MEDLINE vía PubMed®; Biblioteca electrónica SciELO, WOS y CINAHL. Resultados: se identificaron 1.831 estudios, de los cuales 12 conformaron la muestra final. Las dificultades en la comunicación, la falta de profesionales capacitados en lengua de señas, además de sufrimiento, prejuicio y discriminación son frecuentes en la vivencia de las mujeres sordas en el ciclo puerperal del embarazo. Conclusión: la producción de conocimiento a nivel nacional sobre la atención a las mujeres sordas en el período embarazo-puerperio es aún incipiente, y es necesario incentivar estudios y prácticas basadas en evidencias para producir iniciativas que dialoguen sobre la autonomía y el fortalecimiento del ejercicio de los derechos sexuales y reproductivos de las mujeres sordas en Brasil.

Infección congénita por citomegalovirus, hipoacusia y tamizaje neonatal. Una actualización / Congenital cytomegalovirus infection, hearing loss and newborn screening. An update

El citomegalovirus congénito (CMVc) es la infección congénita más común y la principal causa no genética de hipoacusia congénita. Gran parte de los recién nacidos (RN) con CMVc sintomático desarrolla secuelas graves permanentes, donde la hipoacusia es la más frecuente. Sin embargo, el 90% de los casos se presenta en forma asintomática, pudiendo desarrollar secuelas auditivas tardías. El diagnóstico precoz de CMVc requiere un alto índice de sospecha. Actualmente, técnicas eficientes para su detección están disponibles, lo que facilita el diagnóstico en las primeras 3 semanas de vida. La terapia antiviral es la primera línea de tratamiento para el CMVc sintomático, logrando buenos resultados auditivos. A pesar de los avances en los métodos de detección y beneficios del tratamiento, los RN no son tamizados para CMVc. El tamizaje selectivo de CMVc en pacientes que no pasan el screening auditivo facilita la intervención precoz en los casos identificados, pero no permite detectar el número significativo de niños que presenta hipoacusia de aparición tardía. El tamizaje universal permite hacer seguimiento auditivo a los pacientes en riesgo de desarrollar hipoacusia sensorioneural (HSN) por CMVc, identificando así los casos de hipoacusia de aparición tardía, pero la costo-efectividad es aún controversial. Es necesario avanzar en una estrategia local para el tamizaje de CMVc, buscando reducir su impacto a nivel nacional.

Congenital cytomegalovirus (cCMV) is the most common congenital infection and the main non-genetic cause of congenital hearing loss. A significant number of newborns (NB) with symptomatic cCMV will develop permanent serious sequelae, being hearing loss the most frequent. However, 90% of the cases are asymptomatic and may develop late auditory sequelae. Early diagnosis of cCMV requires a high index of suspicion. Currently, efficient detection techniques for its detection are available, which facilitates diagnosis within the first 3 weeks of life. Antiviral therapy is the first line of treatment for symptomatic cCMV, achieving good hearing results. Despite advances in detection methods and the benefits of antiviral therapy, NB are not routinely screened for cCMV. Selective screening for cCMV in patients who fail newborn hearing screening facilitates early intervention in identified cases but fails to detect a significant number of children with late onset hearing loss. Universal screening allows hearing follow up in patients at risk of developing sensorineural hearing loss (SNHL) due to cCMV, thus identifying late-onset hearing loss cases, but cost-effectiveness is still controversial. It is necessary to advance in a local strategy for cCMV screening, aiming to reduce its national impact.

The influence of age on the recovery of sudden sensorineural hearing loss / 中国耳鼻咽喉头颈外科

OBJECTIVE To compare the influence of age on the recovery of sudden sensorineural hearing loss.METHODS Detailed medical data of patients were reviewed.The patients were diagnosed as sudden sensorineural hearing loss from Jan 2010 to June 2018 and accepted treatments with neurotrophic drugs,steroid or hyperbaric oxygen.Age grouping was performed by every 5 years'interval.The treatment efficacy and hearing improvement were compared according to the age.RESULTS There were one hundred and sixty-three patients in this study.The majority of patients had moderate or above hearing loss,and most of the hearing curve was flat and profound type.The overall recovery rate was 56.44%,hearing gain was averaged 21.88 dB.55-60 years group had largest number of patients in the 11 age groups.Even with different treatment,the patients aged 57-66 years had the bad recovery,including the hearing gain data and total effective rate.CONCLUSION Ages has influence on the recovery of sudden sensorineural hearing loss,it maybe correlated with the etiology and patients'condition.

Analysis of Combined Results of Deafness Gene and Hearing Screening in 3 023 Newborns from Poor Families in Guyuan,Ningxia / 听力学及言语疾病杂志

Objective To imvestigate the application value of combined newborn deafness genetic and hearing screening in the prevention of deafness in poor families in Ningxia.Methods Heel blood was collected from 3 023 neonates in Guyuan City,and 15 loci of 4 deafness genes were detected by gene chip technology of hereditary deaf-ness.At the meantime,heaning was screened and followed-up in all newborns.Results Among the 3 023 neo-nates,123 were positive for deafness gene screening(4.07％,123/3 023),including 56 cases with GJB2 mutation(1.85％,56/3 023),46 cases with SLC26A4 mutation(1.52％,46/3 023),6 cases with GJB3 mutation(0.20％,6/3 023),14 cases with mtDNA12SrRNA(0.46％,14/3 023).The mutation detection rates of c.235delC and c.IVS7-2A＞G loci were 1.36％(41/3 023)and 0.93％(28/3 023)respectively,which were the main mutation types.A total of 98 cases were found in Hui nationality to carry deafness gene mutation,with a carrying rate of 4.26％(98/2 302).A total of 25 mutations were detected in the Han nationality(3.49％,25/715).The total mu-tation rate of four common deafness mutation genes between Hui and Han was not significantly different(P＞0.05).All 123 newborns with deafness gene mutation passed the hearing screening(100％).The hearing screening passing rate of 690 Han newborns with negative deafness gene screening results was 99.71％(688/690),and the hearing screening passing tate of 2 204 Hui newborns with negative deafness gene screening results was 99.86％(2 201/2 204).There was no significant difference in the failure rate of hearing screening between Hui and Han newborns with positive deafness gene screening(P＞0.05).All 3 023 neonates completed follow-up(100％).Five neonates failed to pass the hearing re-examination,and 3 neonates were diagnosed with hearing loss.The hearing follow-up of 123 neonates with positive deafness gene mutation showed normal hearing and language development.Conclusion GJB2:c.235delC and SLC26A4:c.IVS7-2A＞G are the main pathogenic gene mutations in the neonates of poor and registered households in Guyuan area.The mitochondrial 12SrRNA carrying rate in Han neonates is higher than that in Hui neonates.

Analysis of the Results of Deafness Gene Screening in 301 Severe and Very Severe Non-syndrome Deafness Children / 医学研究杂志

Objective To study the results of the deafness gene in 301 children with severe and very severe non-syndrome deafness in Xinjiang,to provide a reference for rehabilitation and genetic counseling after cochlear implantation.Methods A total of 301 patients with severe and very severe non-syndrome deafness who were admitted to the People's Hospital of Xinjiang Uygur Autonomous Region from 2017 to 2019 were collected.After informed consent,the patients were screened for deafness genes,including 25 loci in GJB2,SLC26A4,mt12SrRNA,OTOF,and SLC17A8 genes(c.35delG,c.167delT,c.176_191del16,c.235delC,c.299_300delAT,c.281C＞T,c.589G＞A,c.IVS7-2A＞G,c.1174A＞T,c.1226G＞A,c.1229C＞T,c.IVS15+5G＞A,c.1975G＞C,c.2027T＞A,c.2162C＞T,c.2168A＞G,c.1494C＞T,c.1555A＞G,c.1585A＞G,c.1047A＞G,c.1095T＞C,c.960_961 insC/961delT,c.4023G＞A,c.4819C＞T,c.824C＞A),and the detection results were analyzed.Results Among 301 cases of severe and very severe non-syndrome deaf-ness,80 cases of positive mutation were screened,and the total detection rate was 26.58％(80/301).The mutation rates of GJB2,SLC26A4,and mt12SrRNA genes were 10.96％(37/301),12.62％(38/301),and 4.32％(13/301),respectively.The main forms of GJB2 mutations were c.235delC and c.35delG,accounting for 37.50％(30/80)and 8.75％(7/80)of the mutations,respectively.The main forms of SLC26A4 mutations were c.IVS7-2A and c.1174 A＞T,accounting for 26.25％(21/80)and 11.25％(9/80)of the mutations,respectively.The main mutation forms of mt12SrRNA were c.960_961 insC/961delT and c.1555A＞G,accounting for 7.50％(6/80)and 5.00％(4/80)of the mutations,respectively.The c.4023G＞A and c.4819C＞T mutations in OTOF and c.824C＞A mutations in SLC17A8 were not detected.The total detection rate of mutation sites in the Han nationality was significantly higher than that in the Uygur nationality(x2=19.064,P＜0.001).Conclusion GJB2 and SLC26A4 are common pathogenic genes in children with severe and very severe non-syndrome deafness in Xinjiang.There may be other hot spot mutation sites in the Uygur nationality.

Genetic counseling for hearing loss today / 临床耳鼻咽喉头颈外科杂志

Genetic counseling for hearing loss today originated from decoding the genetic code of hereditary hearing loss, which serves as an effective strategy for preventing hearing loss and constitutes a crucial component of the diagnostic and therapeutic framework. This paper described the main principles and contents of genetic counseling for hearing loss, the key points of counseling across various genetic models and its application in tertiary prevention strategies targeting hearing impairment. The prospects of an AI-assisted genetic counseling decision system and the envisions of genetic counseling in preventing hereditary hearing loss were introduced. Genetic counseling for hearing loss today embodies the hallmark of a new era, which is inseparable from the advancements in science and technology, and will undoubtedly contribute to precise gene intervention!

Splicing mutations of GSDME cause late-onset non-syndromic hearing loss / 临床耳鼻咽喉头颈外科杂志

Objective:To dentify the genetic and audiological characteristics of families affected by late-onset hearing loss due to GSDMEgene mutations, aiming to explore clinical characteristics and pathogenic mechanisms for providing genetic counseling and intervention guidance. Methods:Six families with late-onset hearing loss from the Chinese Deafness Genome Project were included. Audiological tests, including pure-tone audiometry, acoustic immittance, speech recognition scores, auditory brainstem response, and distortion product otoacoustic emission, were applied to evaluate the hearing levels of patients. Combining with medical history and physical examination to analyze the phenotypic differences between the probands and their family members. Next-generation sequencing was used to identify pathogenic genes in probands, and validations were performed on their relatives by Sanger sequencing. Pathogenicity analysis was performed according to the American College of Medical Genetics and Genomics Guidelines. Meanwhile, the pathogenic mechanisms of GSDME-related hearing loss were explored combining with domestic and international research progress. Results:Among the six families with late-onset hearing loss, a total of 30 individuals performed hearing loss. The onset of hearing loss in these families ranged from 10 to 50 years（mean age: 27.88±9.74 years）. In the study, four splicing mutations of the GSDME were identified, including two novel variants: c. 991－7C>G and c. 1183+1G>T. Significantly, the c. 991－7C>G was a de novo variant. The others were previously reported variants: c. 991-1G>C and c. 991-15_991-13del, the latter was identified in three families. Genotype-phenotype correlation analysis revealed that probands with the c. 991－7C>G and c. 1183+1G>T performed a predominantly high-frequency hearing loss. The three families carrying the same mutation exhibited varying degrees of hearing loss, with an annual rate of hearing deterioration exceeding 0.94 dB HL/year. Furthermore, follow-up of interventions showed that four of six probands received intervention（66.67%）, but the results of intervention varied. Conclusion:The study analyzed six families with late-onset non-syndromic hearing loss linked to GSDME mutations, identifying four splicing variants. Notably, c. 991－7C>G is the first reported de novo variant of GSDME globally. Audiological analysis revealed that the age of onset generally exceeded 10 years,with variable effectiveness of interventions.

Profil audiométrique des surdités à Brazzaville / Audiometric pattern of deafness in Brazzaville

Introduction. La surdité est une perturbation auditive correspondant à la diminution ou la suppression de la capacité d'entendre le son. L'objectif de cette étude était de déterminer le profil audiométrique de la surdité à Brazzaville Méthodologie. Il s'agissait d'une étude transversale descriptive et rétrospective réalisée dans les services d'Oto-Rhino-Laryngologie et chirurgie cervico-facialedu CHU de Brazzaville et de l'hôpital de référence de Talangaï. L'étude s'est déroulée sur une période de 12 moisallant du 01 janvier2021 au 31 décembre 2021 et avait inclus les patients présentant une hypoacousie et /ou vertige périphérique et ayant réalisé une audiométrie tonale liminaire mettant en évidence une surdité. Résultats. Nous avons étudié360 dossiers depatients atteints de surdité. La moyenne d'âge était 24,6 ans avec une prédominance féminine (57%). Les étudiants et les élèves constituaient la classe professionnelle la plus retrouvée (47,2%). Le signe fonctionnel le plus représenté était l'hypoacousie bilatérale avec 88,6%. L'audiométrie tonale liminaire était dominée par la surdité de perception moyenne (41,6%).Conclusion. La surdité estun handicap auditif invalidantdont la prise en charge pourrait être améliorée par l'utilisation de l'audiométrie tonale.

Introduction.Deafness is an auditory disturbance corresponding to the decrease or suppression of the ability to hear sound. The objective of this study was to determine the audiometric profile of deafness in Brazzaville. Methodology. This was a descriptive and retrospective cross-sectional study conducted in the Oto-Rhino-Laryngology and Cervico-Facial Surgery departments of the University Hospital of Brazzaville and the Talangai reference hospital. The study took place over a period of 12 months from January 1, 2021, to December 31, 2021, and included patients with hearing loss and/or peripheral vertigo who underwent a pure-tone audiometry revealing deafness. Results.We studied 360 medical records of patients with deafness. The average age was 24.6 years with a female predominance (57%). Students and pupils constituted the most frequently encountered professional group (47.2%). Bilateral hearing loss was the most represented functional sign, accounting for 88.6%. Pure-tone audiometry was predominantly indicative of moderate sensorineural hearing loss (41.6%). Conclusion. Deafness is a disabling auditory handicap that could benefit from improved management through the use of pure-tone audiometry.

Creencias y prácticas para el cuidado de la salud de las personas sordas de Antioquia

Objetivo: Describir las creencias y prácticas para el cuidado de la salud de personas sordas de Antioquia, con el fin de identificar necesidades en educación para la salud de esta población. Metodología: estudio cualitativo, con técnicas etnográficas, enmarcado en una investigación acción participación Se condujeron 24 entrevistas semiestructuradas y 4 grupos focales con personas sordas, en encuentros mediados por un intérprete oficial de la lengua de señas colombiana, de los que se registró video y audio, para su posterior transcripción y análisis. Resultados: Emergieron denuncias relacionadas con la barrera lingüística que les impide conocer sobre el cuidado de la salud; también surgieron creencias y prácticas adquiridas en el hogar y con pares acerca la salud sexual y reproductiva, la salud mental y los estilos de vida. Los participantes manifestaron inquietudes y preocupaciones sobre el cuidado, la salud y la enfermedad, que no han sido abordadas con claridad y en su propia lengua. Conclusiones: Las personas sordas reclaman educación para el cuidado de la salud, de calidad y bajo un enfoque diferencial, que contribuya a su autonomía, autodeterminación y al goce efectivo del derecho a la salud.

Objective: To describe the beliefs and practices for health care of deaf people in Antioquia, in order to identify health education needs of this population. Methodology: qualitative study with ethnographic techniques framed in a participatory action research; 22 semi-structured interviews and 4 focus groups were conducted with deaf people, in meetings mediated by an official interpreter of the Colombian Sign Language, of which video and audio were recorded for later transcription and analysis. Results: Complaints related to the language barrier that prevents them from knowing about health care emerged; beliefs and practices acquired at home and with peers about sexual and reproductive health, mental health, and lifestyles. The participants expressed concerns about care, health and illness that have not been addressed clearly and in their own language. Conclusions: Deaf people demand quality health care education under a differential approach, which will contribute to their autonomy, self-determination and the effective enjoyment of the right to health.

Objetivo: Descrever as crenças e práticas de atenção à saúde de pessoas surdas em Antioquia, a fim de identificar as necessidades de educação em saúde dessa população. Metodologia: estudo qualitativo com técnicas etnográficas, enquadrado numa pesquisa-ação participante; Foram realizadas 22 entrevistas semiestruturadas e 4 grupos focais com pessoas surdas, em encontros mediados por um intérprete oficial da Língua de Sinais Colombiana, dos quais foram gravados vídeo e áudio para posterior transcrição e análise. Resultados: Emergiram queixas relacionadas à barreira da língua que os impede de saber sobre os cuidados de saúde; crenças e práticas adquiridas em casa e com colegas sobre saúde sexual e reprodutiva, saúde mental e estilos de vida. Os participantes expressaram preocupações e preocupações sobre cuidados, saúde e doença que não foram abordadas de forma clara e em sua própria linguagem. Conclusões: Os surdos demandam uma educação em saúde de qualidade sob um enfoque diferenciador, que contribua para sua autonomia, autodeterminação e gozo efetivo do direito à saúde.

Colesteatoma congénito: revisión de la literatura / Congenital cholesteatoma: literature review

El colesteatoma congénito es una entidad clínica única y desafiante, que se caracteriza por acumulación anormal de queratina en el oído medio, medial a la membrana timpánica. Se presenta, mayoritariamente, en el género masculino, con una incidencia estimada de 0.12 por 100.000 habitantes, representando el 4% a 24% de los colesteatomas en población pediátrica y un 2% a 5% del total de colesteatomas. Su origen aún es controversial, siendo la teoría más aceptada, la del arresto epitelial. Su diagnóstico es clínico, variando la sintomatología según severidad del compromiso, presentándose desde hallazgo incidental, hipoacusia de conducción, hasta presentar otalgia y perforación timpánica. Las imágenes se consideran un apoyo complementario preoperatorio. El tratamiento es quirúrgico, con diferentes técnicas disponibles, las cuales se deben definir de manera individual en el caso de cada paciente. Es fundamental su diagnóstico y manejo precoz, para lograr un tratamiento oportuno con menor tasa de complicaciones y compromiso a largo plazo. A continuación, se presenta una revisión de la literatura respecto de esta patología, para difusión en nuestro medio.

Congenital cholesteatoma (CC) is a unique and challenging clinical entity characterized by abnormal accumulation of keratin in the middle ear, medial to the tympanic membrane, being more frequent in the male gender, with an estimated incidence of 0.12 per 100,000 inhabitants. It represents 4% to 24% of cholesteatomas in the pediatric population and 2% to 5% of all cholesteatomas. Its cause is still controversial, the most accepted theory being epithelial arrest. The diagnosis is clinical, varying the symptoms according to the severity of the compromise, from incidental finding, through conduction hearing loss, to presenting otalgia and tympanic perforation. Images are considered additional preoperative support. Treatment is predominantly surgical, with different techniques available, which must be defined individually. Its early discovery and management are essential to achieve proper treatment with a lower rate of complications and long-term commitment. We present a review of the literature regarding CC to provide information relevant to our area of expertise.

Implantación coclear en pacientes de edad avanzada: Resultados auditivos / Cochlear implantation in elderly patients: Hearing results

Introducción: El envejecimiento de la población, así como la ampliación en las indicaciones de implantación, hace que cada día haya más pacientes implantados mayores de 65 años, lo que supone un reto a nivel de ajuste y optimización auditiva. Se ha constatado que la implantación coclear en pacientes de edad avanzada generalmente conduce a una mejoría, tanto auditiva como en la neurocognición, la depresión, el aislamiento social, la actividad física y la calidad de vida. Objetivo: Los objetivos de este estudio son valorar las características de los pacientes implantados a partir de 65 años en un centro terciario, analizar los beneficios e identificar particularidades clínicas en este grupo de pacientes. Material y Método: Se llevó a cabo un estudio retrospectivo con un seguimiento de 5 años postcirugía de pacientes con implante MED-EL y se realizó una visita preoperatoria y un seguimiento con audiometría en campo libre y audiometría verbales postquirúrgica al año, 3 años y 5 años postquirúrgico. Resultados: Se incluyó a 16 pacientes implantados unilateralmente. La edad media inicio pérdida fue de 36,75 años. La edad media de cirugía fue de 71,44 años. Los resultados auditivos fueron satisfactorios, con una media de audiometría en campo libre de 44,33 dB al año, 43,33 dB a los 3 años y 41,66 dB a los 5 años. El resultado en las audiometrías verbales (test de bisílabos y test de frases) fue mejor en el grupo de pacientes con adaptación bimodal. Conclusión: En nuestra experiencia, la implantación coclear en ≥65 años sí que logra mejorar las capacidades auditivas medidas, tanto en audiometría de campo libre como en pruebas verbales. La adaptación bimodal mejora los resultados auditivos, a pesar de la dificultad de procesamiento de los dos estímulos diferentes.

Introduction: The aging of the population, as well as the expansion in the indications for implantation means that every day there are more implanted patients over 65 years of age, which represents a challenge in terms of hearing adjustment and optimization. Cochlear implantation in elderly patients has been found to generally lead to improvements in hearing and neurocognition, depression, social isolation, physical activity, and quality of life. Aim: The objectives of this study are to assess the characteristics of patients over 65 years of age implanted in a tertiary center, analyze the benefits and identify clinical particularities in this group of patients. Material and Method: A retrospective study was carried out with a 5-year post-surgery follow-up of patients with a MED-EL implant, and a preoperative visit and follow-up with free-field audiometry and post-surgical speech audiometry were performed at one year, 3 years and 5 years post-surgery. Results: Sixteen unilaterally implanted patients were included. The mean age at onset of loss was 36.75 years. The mean age at surgery was 71.44 years. Hearing results were satisfactory, with a mean free field audiometry of 44.33 dB at one year, 43.33 dB at 3 years, and 41.66 dB at 5 years. The result in the verbal audiometries (disyllable test and sentence test) was better in the group of patients with bimodal adaptation. Conclusión: In our experience, cochlear implantation in patients ≥ 65 years of age does manage to improve hearing capacities measured both in free-field audiometry and in verbal tests. Bimodal adaptation improves auditory results, despite the difficulty ofprocessing the two different stimuli.

Epidemiological characteristics and risk factors of occupational noise deafness in Nantong Area in 2017- 2021 / 公共卫生与预防医学

Objective To investigate the epidemiological characteristics of occupational noise induced deafness (ONID) in Nantong area and analyze the risk factors. Methods A total of 421 workers in hydropower industry who underwent physical examination in the outpatient clinic of Nantong Center for Disease Control and Prevention from January 2017 to December 2021 were selected as the research subjects.168 workers without ONID were divided into control group, and 253 workers diagnosed with ONID were divided into ONID group. The expression levels of serum cortisol, interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in the two groups were compared and analyzed. Results There were more males than females in both groups (P<0.05). With the increase of working age, the detection rate of ONID also increased significantly (P<0.05). The hearing thresholds of left and right ears in workers of different workplaces in the ONID group were higher than those in the control group (P<0.05), and the hearing thresholds of workers in water wheel room and water machine operation duty room were higher (P<0.05). The expression levels of cortisol, IL-6 and TNF-α in the serum of ONID patients were significantly higher than those in the control group. Multivariate analysis showed that workplace, serum cortisol, IL-6 and TNF-α were the main influencing factors for ONID. Conclusion Workplace, serum cortisol, IL-6 and TNF-α are all risk factors for ONID. Appropriate measures should be taken to strengthen the prevention and treatment of noise-induced hearing loss according to the influencing factors.

Analysis of combined screening results for hearing and deafness in 842 newborns in Dalian / 中国医师进修杂志

Objective:To analyze the results of the joint screening of newborn hearing and deafness genes in Dalian to provide a reference for the prevention and control of hereditary deafness.Methods:Eight hundred and forty-two neonates born in Dalian Women and Children′s Medical Group from January 1, 2022 to May 30, 2022 were screened retrospectively, using AABR (automatic brainstem evoked potential). And 20 mutation sites of common genetic deafness 4 genes , including GJB2, GJB3, SLC26A4 (PDS) and mitochondrial genes associated with drug-induced deafness (MT-RNRI)(12SrRNA), were detected by high-throughput sequencing.Results:Among the 842 newborns, 840 passed hearing screening (99.8%); 36 cases (4.3%) passed the hearing screening but not the hearing loss gene screening; 804 cases passed through the both screening (95.5%); 2 cases (0.24%) failed in the both screening. 38 cases of deafness gene mutations were detected, with a total carrying rate of 4.51% (38/842). Among them, the carrying rates of heterozygous mutations in GJB2, GJB3, SLC26A4 (PDS), MT-RNRI (12SrRNA) were 1.90%, 0.24%, 1.30%, and 0.95%, respectively. The carrying rates of GJB2/GJB3 composite heterozygous mutations were 0.12%.Conclusions:The combined screening of neonatal hearing and deafness genes can reduce the missed rate of hearing screening. The carrier rate of neonatal deafness gene in Dalian is 4.51%, with the highest GJB 2 carrier rate, followed by SLC26A4 (PDS) carrier rate.

Risk assessment of occupational noise-induced hearing loss in worker in a metal tool manufacturing enterprise / 中国职业医学

Objective To evaluate the risk of occupational noise-induced hearing loss in workers in a metal tool manufacturing enterprise, and to carry out risk classification and risk management. Methods A total of 91 male noise-exposed workers from a metal tool manufacturing enterprise in Hebei Province were selected as the research subjects using the convenience sampling method. The work site survey on occupational health and the measurement on individual noise exposure level were carried out. The ISO 1999：2013 (E) Acoustics-Estimation of Noise-Induced Hearing Loss was used to predict the risk of high frequency hearing loss (HFHL) and occupational noise-induced deafness (ONID). The risk classification and risk management were conducted using the WS/T 754-2016 Guideline for Risk Management of Occupational Noise Hazard (hereinafter referred to as WS/T 754-2016). Results The individual noise exposure intensity of workers in the six work sites of the enterprise, including blade workers, sheet punching workers, roller forging workers (hoe), hole punching workers, roller forging workers(shovels), and carpenters, exceeded the national occupational exposure limit, with the maximum volume of 91.2-104.1 dB(A). Among these workers, the positions of blade workers, sheet punching workers, and roller forging workers (hoe) were identified as critical control points for noise hazards in the enterprise. The detection rates of HFHL and ONID were 24.2% and 8.8%, respectively. The risk prediction results showed that, based on the actual noise exposure time and age of the study subjects, the risk of HFHL and ONID ranged from 1.7%-48.8% and 0.0%-29.5%, respectively. The risks of HFHL caused solely by occupational noise exposure when working up to 50.0, 55.0, and 60.0 years of age were 11.4% to 64.7%, 16.4% to 65.1%, and 17.2% to 59.4%, respectively. The risks of ONID caused solely by occupational noise exposure were 0.0% to 45.5%, 4.2% to 51.7%, and 5.9% to 57.4%, respectively. Except for the blade workers, the predicted median of potential noise-induced permanent threshold shifts (NIPTS) in the other five positions were lower than the actual values of NIPTS, with the difference ranging from 3.0-28.3 dB, and 73.3% of them underestimated by 10.0 dB or more. Conclusion The outcome of noise exposure on the hearing of workers in this enterprise are severe. Risk management should be conducted according to the WS/T 755-2016.

TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery / 临床耳鼻咽喉头颈外科杂志

Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome（TCS）, the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. Methods:All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood of the proband and family members was extracted, DNA was extracted for whole exome sequencing, and Sanger sequencing was performed on the family members for the mutation site.TCOF1genetic mutations analysis was performed on the paitents. Then, the hearing threshold and speech recognition rate of family 2 proband were evaluated and compared under the sound field between bare ear and wearing bone bridge. Results:In the two pedigrees, the probands of both families presented with auricle deformity, zygomatic and mandibular hypoplasia, micrognathia, hypotropia of the eye fissure, and hypoplasia of the medial eyelashes. The proband of Family 1 also presents with specific features including right-sided narrow anterior nasal aperture and dental hypoplasia, which were consistent with the clinical diagnosis of Treacher Collins syndrome. Genetic testing was conducted on both families, and two heterozygous mutations were identified in the TCOF1 gene: c. 1350_1351dupGG（p. A451Gfs*43） and c. 4362_4366del（p. K1457Efs*12）, resulting in frameshift mutations in the amino acid sequence. Sanger sequencing validation of the TCOF1 gene in the parents of the proband in Family 1 did not detect any mutations. Proband 1 TCOF1 c. 1350_1351dupGG heterozygous variants have not been reported previously. The postoperative monosyllabic speech recognition rate of family 2 proband was 76%, the Categories of Auditory Performance（CAP） score was 6, and the Speech Intelligibility Rating（SIR） score was 4. Assessment using the Meaningful Auditory Integration Scale（MAIS） showed notable improvement in the patient's auditory perception, comprehension, and usage of hearing aids. Evaluation using the Glasgow Children's Benefit Inventory and quality of life assessment revealed significant improvements in the child's self care abilities, daily living and learning, social interactions, and psychological well being, as perceived by the parents. Conclusion:This study has elucidated the biological cause of Treacher Collins syndrome, enriched the spectrum of TCOF1 gene mutations in the Chinese population, and demonstrated that bone bridge implantation can improve the auditory and speech recognition rates in TCS patients.

Intervention effects of bone conduction hearing aids in patients with single-sided deafness and asymmetric hearing loss / 临床耳鼻咽喉头颈外科杂志

The incidence of single-sided deafness（SSD） is increasing year by year. Due to the hearing defects of one ear, the ability of sound localization, speech recognition in noise, and quality of life of patients with single-sided deafness will be affected to varying degrees. This article reviews the intervention effects of different types of bone conduction hearing aids in patients with single-sided deafness and asymmetric hearing loss, and the differences of intervention effects between bone conduction hearing aids, contralateral routing of signal（CROS） aids, and cochlea implant（CI）, to provide a reference for the auditory intervention and clinical treatment of single-sided deafness and asymmetric hearing loss.

Repeated transcranial acupuncture combined with electroacupuncture for flat descending sudden deafness: a randomized controlled trial / 中国针灸

OBJECTIVE@#To observe the clinical effect of repeated transcranial acupuncture combined with electroacupuncture on flat descending sudden deafness.@*METHODS@#A total of 80 patients with flat descending sudden deafness were randomly divided into an acupuncture and medication group (39 cases, 1 case dropped off) and a western medication group (39 cases, 1 case dropped off). Patients in the western medication group were treated with glucocorticoid + batroxobin + ginkgo leaf preparation. On the basis of the western medication group, patients in the acupuncture and medication group were treated with acupuncture at Baihui (GV 20), Ningshen, Yunting area, Mastoid 1 point, Mastoid 2 point, Fengchi (GB 20), Gongxue, Tinghui (GB 2), etc., repeated transcranial acupuncture was applied at Baihui (GV 20), Ningshen and Yunting area; Mastoid 1 point and Mastoid 2 point, Fengchi (GB 20) and Gongxue of the affected side were connected to the electroacupuncture instrument, continuous wave, 2 Hz in frequency. The needle was retained for 30 min, once a day, and rest for 1 d after 6 d of continuous treatment. All patients were treated for 3 weeks. The average hearing threshold, tinnitus handicap inventory (THI) score, dizziness handicap inventory (DHI) score and speech discrimination test score were compared between the two groups before and after treatment, and the clinical effect was evaluated.@*RESULTS@#After treatment, the average hearing threshold, THI and DHI scores of the two groups were lower than those before treatment (P<0.05), and above indexes in the acupuncture and medication group were lower than those in the western medication group (P<0.05). The speech discrimination test scores of the two groups were higher than those before treatment (P<0.05), and the score in the acupuncture and medication group was higher than that in the western medication group (P<0.05). The total effective rate was 87.2% (34/39) in the acupuncture and medication group, which was higher than 74.4% (29/39) in the western medication group (P<0.05).@*CONCLUSION@#Repeated transcranial acupuncture combined with electroacupuncture can improve the hearing level of patients with flat descending sudden deafness, relieve tinnitus and vertigo symptoms.

Effects of IKAP management mode on mental state,self-efficacy and hearing recovery in middle-aged and elderly patients with unilateral sudden deafness / 中国现代医生

Objective To investigate the effects of information-knowledge-attitude-practice(IKAP)management mode on mental state,self-efficacy and hearing recovery in middle-aged and elderly patients with unilateral sudden deafness.Methods A total of 80 middle-aged and elderly patients with unilateral sudden deafness treated in the Department of Otolaryngology,Head and Neck,Jinhua People's Hospital from January 2020 to December 2021 were selected as the study objects,and were divided into observation group and control group according to random number table method,with 40 cases in each group.The control group was given routine intervention,and observation group was given comprehensive health intervention under IKAP management mode based on control group.After 6 months of intervention,the mental state,self-efficacy,hearing recovery and satisfaction with intervention services were compared between the two groups.Results Compared with before intervention,the scores of self-rating anxiety scale(SAS)and self-rating depression scale(SDS)in both groups decreased.The reduction effect of observation group was more obvious(P<0.05).The scores of all dimensions in the self-efficacy scale were improved in both groups,and the improvement effect was more obvious in observation group(P<0.05).The significant efficiency of hearing recovery,effective rate of recovery and satisfaction degree of intervention service in observation group were higher than those in control group(P<0.05).Conclusion IKAP management mode can improve the hearing level of middle-aged and elderly patients with unilateral sudden deafness,help patients to improve anxiety and depression,and improve patients'self-efficacy and satisfaction.

¿Basta con el habla? Evaluación del desarrollo del lenguaje en niños sordos prelocutivos durante los primeros seis años de vida. Una revisión sistemática / Is speech enough? Language development evaluation in the first 6 years of prelingually deaf children. A systematic review

RESUMEN Objetivo Sintetizar la información científica relevante sobre la evaluación del desarrollo del lenguaje en niños sordos prelocutivos durante los primeros seis años de vida, con el fin de determinar si es suficientes para confirmar la presencia de algún desarrollo de lenguaje en esta población, o si se requiere un enfoque más integral. Estrategia de investigación Se realizó una revisión estructurada de la literatura científica en las siguientes bases de datos: PubMed, Lilacs, Ibecs, Trip DataBase, Cochrane library, Clinical Trial y Nice. Criterios de selección revisiones sistemáticas, evaluaciones de tecnologías sanitarias, ensayos clínicos aleatorizados, estudios observacionales de cohorte y casos - controles; incluyendo publicaciones sobre evaluación de cualquier aspecto del desarrollo de lenguaje, cualquier intervención y en cualquier idioma, se excluyeron si únicamente evalúan audición o habla, sordera central, súbita, transitoria, sordoceguera, con otras discapacidades o con trastornos del espectro autista. Análisis de datos se usó la metodología GRADE para analizar la calidad de la evidencia. Resultados es factible realizar evaluaciones del desarrollo de lenguaje a niños sordos prelocutivos. Se obtiene una calidad de la evidencia moderada que sugiere cierta confianza en los resultados de las evaluaciones, siempre y cuando vengan acompañadas de una apreciación integral de otros elementos lingüísticos. Conclusión los resultados de las evaluaciones de lenguaje deben sostenerse, en mayor medida, en datos sobre el lenguaje receptivo y expresivo, y que cuyas evidencias pueden enriquecerse al adjuntar evaluaciones de elementos lingüísticos formales tanto de la modalidad oral como gestual, y de los componentes pragmáticos de los procesos comunicacionales.

ABSTRACT Purpose To synthesize the relevant scientific information regarding the assessment of language development in prelingually deaf children during their first six years of life, in order to determine whether it is sufficient to confirm the presence of some language development in this population, or if a more integrated approach would be more appropriate. Research strategies A structured review of the relevant scientific literature was carried out in the following databases: PubMed, Lilacs, Ibecs, Trip DataBase, Cochrane library, Clinical Trial and Nice. Selection criteria Systematic reviews, health technology assessments, randomized clinical trials, observational cohorts and case-control studies; including publications of assessments concerning any aspect of language development or any intervention in any language. Evaluations related exclusively to hearing and speech, to central, sudden or transient deafness, to deaf-blindness, to further disabilities or to autism spectrum disorders, were excluded. Data analysis GRADE methodology was used to analyze evidence quality. Results It is possible to evaluate the language development of prelingually deaf children. A moderate quality of evidence was obtained, suggesting that the evaluations' results are fairly trustworthy, provided that the assessments are conducted within an integrated approach of other linguistic elements. Conclusion The results of the language evaluations must be supported mostly by receptive and expressive language data, and the found evidence can be improved by combining the assessments of the formal linguistic elements of both oral and gestural modalities with the pragmatic components of the communication process.