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)

A política de saúde voltada ao cuidado da pessoa com deficiência auditiva: um olhar para a diversidade surda / Health policy aimed at caring for people with hearing impairment: a look at deaf diversity

A implementação da Rede de Cuidados à Pessoa com Deficiência (RCPD) vem sendo discutida nos últimos anos por pesquisadores no campo das políticas de saúde no sentido de avaliar a sua efetividade em ampliar o cuidado e fomentar a qualidade de vida das pessoas com deficiência, entre elas aquelas com surdez. No que se refere à deficiência auditiva e à surdez existem duas concepções teóricas principais: uma orgânico-biológica, que orienta todo o cuidado para a reabilitação do aparelho auditivo e desenvolvimento de oralidade, e outra socioantropológica que propõe um discurso da surdez fundado na diferença cultural, com destaque para o uso da língua de sinais como primeira língua dos surdos e a priorização de abordagens bilíngues. Elas são fundamentalmente distintas na definição de uma hipotética fronteira da normalidade e no entendimento dos surdos como uma minoria linguística. Parte-se do pressuposto de que a inclusão de um olhar que incorpora os aspectos identitários da comunidade surda aos clássicos referenciais teóricos da análise de políticas permite uma nova e mais aprofundada compreensão dos complexos processos de implementação das políticas de saúde voltadas às pessoas com deficiência. Nesse sentido, o objetivo deste trabalho foi analisar as políticas de saúde voltadas às pessoas com deficiência auditiva considerando as diferentes concepções da surdez. Trata-se de um estudo de natureza qualitativa que lançou mão da triangulação de dados a partir de diferentes estratégias metodológicas, tais como análise documental, entrevistas individuais semiestruturadas e a identificação de itinerários terapêuticos de pessoas surdas, residentes em uma determinada região de saúde do país. Os resultados mostram que apesar do discurso dos atores envolvidos na formulação da política da RCPD envolver conceitos do modelo social das deficiências e da concepção socioantropológica da surdez, o processo de implementação da política demonstra que as práticas ainda são majoritariamente voltadas ao modelo biológico, com serviços de reabilitação quase que exclusivamente pautados na concepção orgânico-biológica e com graves falhas nos processos para diagnóstico precoce. Conclui-se que a política pública desconsidera a diversidade existente na deficiência auditiva e que a rede de atenção à saúde precisa incorporar cada vez mais estratégias que permitam o pleno exercício da cidadania pelas pessoas com surdez, considerando as singularidades linguísticas e sociais da comunidade surda.

The implementation of the Care Network for People with Disabilities (CNPD) has been discussed in recent years by researchers in the field of health policies in order to evaluate its effectiveness in expanding care and promoting the quality of life of people with disabilities, among them the ones with deafness. With regard to hearing impairment and deafness, there are two main theoretical conceptions: an organic-biological one, which guides all care towards the rehabilitation of the hearing aid and the development of orality, and another socio-anthropological one that proposes a discourse on deafness based on cultural differences, with emphasis on the use of sign language as the first language of deaf people and the prioritization of bilingual approaches. They are fundamentally different in defining a hypothetical border of normality and in understanding deaf people as a linguistic minority. It is assumed that the inclusion of a perspective that incorporates the identity aspects of the deaf community into the classic theoretical references of policy analysis allows for a new and more in-depth understanding of the complex processes of implementing health policies aimed at people with disabilities. In this sense, the objective of this work was to analyze health policies aimed at people with hearing impairments, considering the different conceptions of deafness. This is a qualitative study that used data triangulation based on different methodological strategies, such as document analysis, semi-structured individual interviews and the identification of therapeutic itineraries for deaf people residing in a specific health region of the country. The results show that although the discourse of the actors involved in formulating the CNPD policy involves concepts from the social model of disabilities and the socio-anthropological conception of deafness, the policy implementation process demonstrates that the practices are still mostly focused on the biological model, with rehabilitation services almost exclusively based on organic-biological conception and with serious flaws in the processes for early diagnosis. It is concluded that public policy disregards the diversity that exists in hearing impairment and that the health care network needs to increasingly incorporate strategies that allow the full exercise of citizenship by people with deafness, considering the linguistic and social singularities of the deaf community.

Tecnologia auditiva assistiva em usuários de implante coclear em ambientes reverberantes com múltiplas fontes de ruído / Assistive listening technology in cochlear implant users in reverberant environments with multiple noise sources

RESUMO Objetivo Avaliar a contribuição da tecnologia de escuta assistida em usuários de implante coclear (IC) em situações de reverberação e ruído. Métodos Estudo transversal prospectivo aprovado pelo Comitê de Ética Institucional (CAAE 8 3031418.4.0000.0068). Foram selecionados adolescentes e adultos usuários de IC com surdez pré ou pós-lingual. Para usuários bilaterais, cada orelha foi avaliada separadamente. O reconhecimento de fala foi avaliado por meio de listas gravadas de palavras dissílabas apresentadas a 65 dBA a 0° azimute com e sem o Mini Microfone2 (Cochlear™) conectado ao processador de fala Nucleus®6. A reverberação da sala foi medida como 550 ms. Para avaliar a contribuição do dispositivo de escuta assistida (DEA) em ambiente reverberante, o reconhecimento de fala foi avaliado no silêncio. Para avaliar a contribuição do DEA em reverberação e ruído, o reconhecimento de fala foi apresentado a 0° azimute com o ruído proveniente de 8 alto-falantes dispostos simetricamente a 2 metros de distância do centro com ruído de múltiplos falantes usando relação sinal-ruído de +10dB. Para evitar viés de aprendizado ou fadiga, a ordem dos testes foi randomizada. A comparação das médias foi analisada pelo teste t para amostras pareadas, adotando-se nível de significância de p<0,005. Resultados Dezessete pacientes com idade média de 40 anos foram convidados e concordaram em participar, sendo 2 participantes bilaterais, totalizando 19 orelhas. Houve contribuição positiva significante do Mini Mic2 na reverberação e ruído+reverberação (p<0,001). Conclusão DEA foi capaz de melhorar o reconhecimento de fala de usuários de IC tanto em situações de reverberação quanto ruidosas.

ABSTRACT Purpose This study aimed to evaluate the contribution of assistive listening technology with wireless connectivity in cochlear implant (CI) users in reverberating and noise situations. Methods Prospective cross-sectional study approved by the Institutional Ethics Committee (CAAE 8 3031418.4.0000.0068). Adolescents and adults CI users with pre- or post-lingual deafness were selected. For bilateral users, each ear was assessed separately. Speech recognition was assessed using recorded lists of disyllabic words presented at 65 dBA at 0° azimuth with and without the Wireless Mini Microphone 2 (Cochlear™) connected to the Nucleus®6 speech processor. Room reverberation was measured as 550 ms. To assess the contribution of the assistive listening device (ALD) in a reverberating environment, speech recognition was assessed in quiet. To assess the contribution of the ALD in reverberation and noise, speech recognition was presented at 0° azimuth along with the noise coming from 8 loudspeakers symmetrically arranged 2 meters away from the center with multi-talker babble noise using signal to noise ratio of +10dB. To avoid learning bias or fatigue, the order of the tests was randomized. Comparison of means was analyzed by t test for paired samples, adopting significance level of p <0.005. Results Seventeen patients with a mean age of 40 years were invited and agreed to participate, with 2 bilateral participants, totaling 19 ears assessed. There was a significant positive contribution from the Mini Mic2 in reverberation, and noise+reverberation (p <0.001). Conclusion ALD was able to improve speech recognition of CI users in both reverberation and noisy situations.

A case of sudden hearing loss combined with familial hyperlipidemia / 临床耳鼻咽喉头颈外科杂志

Hyperlipidemia is characterized by elevated levels of blood lipids. The clinical manifestations are mainly atherosclerosis caused by the deposition of lipids in the vascular endothelium. The link between abnormal lipid metabolism and sudden hearing loss remains unclear. This article presents a case study of sudden hearing loss accompanied by familial hyperlipidemia. Pure tone audiometry indicated intermediate frequency hearing loss in one ear. Laboratory tests showed abnormal lipid metabolism, and genetic examination identified a heterozygous mutation in theAPOA5 gene. Diagnosis: Sudden hearing loss; hypercholesterolemia. The patient responded well to pharmacological treatment. This paper aims to analyze and discuss thepotential connection between abnormal lipid metabolism and sudden hearing loss.

Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss / 临床耳鼻咽喉头颈外科杂志

Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.

Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate long-term auditory changes and characteristics of Alport syndrome（AS） patients with different degrees of renal injury. Methods:Retrospectively analyzing clinical data of patients diagnosed AS from January 2007 to September 2022, including renal pathology, genetic detection and hearing examination. A long-term follow-up focusing on hearing and renal function was conducted. Results:This study included 70 AS patients, of which 33（25 males, 8 females, aged 3.4-27.8 years） were followed up, resulting in a loss rate of 52.9%.The follow-up period ranged from 1.1to 15.8 years, with 16 patients followed-up for over 10 years. During the follow-up, 10 patients presenting with hearing abnormalities at the time of diagnosis of AS had progressive hearing loss, and 3 patients with new hearing abnormalities were followed up, which appeared at 5-6 years of disease course. All of which were sensorineural deafness. While only 3 patients with hearing abnormalities among 13 patients received hearing aid intervention. Of these patients,7 developed end-stage renal disease（ESRD）, predominantly males （6/7）. The rate of long-term hearing loss was significantly different between ESRD group and non-ESRD group（P=0.013）. There was no correlation between the progression of renal disease and long-term hearing level（P>0.05）. kidney biopsies from 28 patients revealed varying degrees of podocyte lesion and uneven thickness of basement membrane. The severity of podocyte lesion was correlated with the rate of long-term hearing loss（P=0.048）, and there was no correlation with the severity of hearing loss（P>0.05）. Among 11 cases, theCOL4A5mutationwas most common （8 out of 11）, but there was no significant correlation between the mutation type and hearing phenotype（P>0.05）. Conclusion:AS patients exhibit progressive hearing loss with significant heterogeneity over the long-term.. THearing loss is more likely to occur 5-6 years into the disease course. Hearing abnormalities are closely related to renal disease status, kidney tissue pathology, and gene mutations, emphasizing the need for vigilant long-term hearing follow-up and early intervention.

Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss / 临床耳鼻咽喉头颈外科杂志

Objective:To analyze the phenotype and genotype characteristics of autosomal recessive hearing loss caused by MYO15A gene variants, and to provide genetic diagnosis and genetic counseling for patients and their families. Methods:Identification of MYO15A gene variants by next generation sequencing in two sporadic cases of hearing loss at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine. The sequence variants were verified by Sanger sequencing.The pathogenicity of these variants was determined according to the American College of Medical Genetics and Genomics（ACMG） variant classification guidelines, in conjuction with clinical data. Results:The probands of the two families have bilateral,severe or complete hearing loss.Four variants of MYO15A were identified, including one pathogenic variant that has been reported, two likely pathogenic variants,and one splicing variant of uncertain significance. Patient I carries c. 3524dupA（p. Ser1176Valfs*14）, a reported pathogenic variant, and a splicing variant c. 10082+3G>A of uncertain significance according to the ACMG guidelines. Patient I was treated with bilateral hearing aids with satisfactory effect, demonstrated average hearing thresholds of 37.5 dB in the right ear and 33.75 dB in the left ear. Patient Ⅱ carries c. 7441_7442del（p. Leu2481Glufs*86） and c. 10250_10252del（p. Ser3417del）,a pair of as likely pathogenic variants according to the ACMG guidelines. Patient Ⅱ, who underwent right cochlear implantation eight years ago, achieved scores of 9 on the Categorical Auditory Performance-Ⅱ（CAP-Ⅱ） and 5 on the Speech Intelligibility Rating（SIR）. Conclusion:This study's discovery of the rare c. 7441_7442del variant and the splicing variant c. 10082+3G>A in the MYO15A gene is closely associated with autosomal recessive hearing loss, expanding the MYO15A variant spectrum. Additionally, the pathogenicity assessment of the splicing variant facilitates classification of splicing variations.

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.

Distribution characteristics and correlation analysis of GJB2 variation in patients with auditory neuropathy / 临床耳鼻咽喉头颈外科杂志

Objective:To elucidate the correlation between the GJB2 gene and auditory neuropathy, aiming to provide valuable insights for genetic counseling of affected individuals and their families. Methods:The general information, audiological data（including pure tone audiometry, distorted otoacoustic emission, auditory brainstem response, electrocochlography）, imaging data and genetic test data of 117 auditory neuropathy patients, and the patients with GJB2 gene mutation were screened out for the correlation analysis of auditory neuropathy. Results:Total of 16 patients were found to have GJB2 gene mutations, all of which were pathogenic or likely pathogenic.was Among them, one patient had compound heterozygous variants GJB2[c. 427C>T][c. 358_360del], exhibiting total deafness. One was GJB2[c. 299_300delAT][c. 35_36insG]compound heterozygous variants, the audiological findings were severe hearing loss.The remaining 14 patients with GJB2 gene variants exhibited typical auditory neuropathy. Conclusion:In this study, the relationship between GJB2 gene and auditory neuropathy was preliminarily analyzed,and explained the possible pathogenic mechanism of GJB2 gene variants that may be related to auditory neuropathy.

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!

Construção e validação de vídeo sobre o câncer de mama para surdas / Construction and validation of a video about breast cancer for deaf women

Introdução: No mundo, um bilhão de pessoas tem algum tipo de deficiência, dentre elas a deficiência auditiva e mais de 190 milhões são mulheres surdas. É relevante tecnologias para educação inclusiva e acessível sobre o câncer de mama a surdas. Objetivo: Construir e validar vídeo educativo para mulheres surdas sobre prevenção e rastreamento do câncer de mama. Materiais e Método: Estudo metodológico com construção de vídeo educativo e validação por 11 especialistas de conteúdo e sete especialistas técnicos. Conteúdo fundamentado no Ministério da Saúde e no Instituto Nacional do Câncer. Na análise de conteúdo foi utilizado o Instrumento de Validação de Conteúdo Educativo em Saúde. A validade foi atestada pelo Índice de Validade de Conteúdo e o teste binomial. Resultados: O vídeo tem 17 minutos e 12 segundos. Na validação de conteúdo todos os itens tiveram concordância acima de 90,9% entre os participantes. O Índice de Validade de Conteúdo global foi superior a 0,90 entre os especialistas de conteúdo. Consideraram o material excelente, muito bom ou bom, 85,8% dos especialistas técnicos. Discussão: O vídeo contribui para o ensino e aprendizagem sobre o tema, ações de autocuidado e promoção da saúde às surdas. Conclusões: Vídeo construído com narração em LIBRAS, foi considerado válido quanto ao conteúdo e aspectos técnicos e poderá ser utilizado em futuras pesquisas e na educação em saúde de surdas.

Introduction: In the world, one billion people have some kind of disability, among them hearing impairment and more than 190 million are deaf women. It is relevant technologies for inclusive and accessible education about breast cancer to deaf women. Objective: To build and validate an educational video for deaf women on breast cancer prevention and screening. Materials and Method: Methodological study with construction of educational video and validation by 11 content specialists and seven technical specialists. Content based on the Ministry of Health and the National Cancer Institute. The Health Education Content Validation Instrument was used for content analysis. Validity was attested by the Content Validity Index and the binomial test. Results: The video is 17 minutes and 12 seconds long. In the content validation all items had agreement above 90.9% among participants. The overall Content Validity Index was above 0.90 among the content experts. 85.8% of the technical experts considered the material excellent, very good or good. Discussion: The video contributes to teaching and learning about the theme, self-care actions and health promotion for deaf women. Conclusions: Video constructed with narration in LIBRAS, was considered valid in terms of content and technical aspects and can be used in future research and health education for deaf women.

Introducción: En el mundo, mil millones de personas tienen algún tipo de discapacidad, entre ellas discapacidad auditiva y más de 190 millones son mujeres sordas. Se trata de tecnologías relevantes para una educación inclusiva y accesible sobre el cáncer de mama para mujeres sordas. Objetivo: Construir y validar un vídeo educativo para mujeres sordas sobre prevención y cribado del cáncer de mama. Materiales y Método: Estudio metodológico con construcción de video educativo y validación por 11 especialistas de contenido y siete especialistas técnicos. Contenido basado en el Ministerio de Salud y el Instituto Nacional del Cáncer. Se utilizó la Herramienta de Validación de Contenidos de Educación para la Salud para analizar el contenido. La validez fue atestada por el Índice de Validez de Contenido y la prueba binomial. Resultados: El vídeo tiene una duración de 17 minutos y 12 segundos. En la validación del contenido todos los ítems tuvieron un acuerdo superior al 90,9% entre los participantes. El Índice de Validez de Contenido global fue superior a 0,90 entre los expertos en contenido. El 85,8% de los expertos técnicos consideraron el material excelente, muy bueno o bueno. Discusión: El vídeo contribuye a la enseñanza y el aprendizaje sobre el tema, las acciones de autocuidado y la promoción de la salud de las mujeres sordas. Conclusiones: El video construido con narración en LIBRAS, fue considerado válido en términos de contenido y aspectos técnicos y puede ser utilizado en futuras investigaciones y educación en salud para mujeres sordas.

Síndrome de Wildervanck: reporte de un caso clínico / Wildervanck syndrome: clinical case report

El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético. En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome

Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.

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.

Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites / 临床耳鼻咽喉头颈外科杂志

Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group（homozygous mutation and compound heterozygous mutation）, monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.

Clinical analysis of 11 cases of otogenic intracranial complications treated by multidisciplinary collaboration / 临床耳鼻咽喉头颈外科杂志

Objective:To analyze the clinical diagnosis, treatment ，and surgical timing of otogenic intracranial complications. Methods:The clinical data of 11 patients with intracranial complications with ear symptoms as the first manifestation in Department of Otorhinolaryngology Head and Neck Surgery, Qilu Hospital of Shandong University（Qingdao） from December 2014 to June 2022 were collected, including 8 males and 3 females, aged from 4 to 69 years. All patients had complete otoendoscopy, audiology, imaging and etiology examination, and the diagnosis and treatment plan was jointly developed through multidisciplinary consultation according to the critical degree of clinical symptoms and imaging changes. Among the 11 patients, 5 cases were treated with intracranial lesions first in neurosurgery department and middle ear lesions later in otolaryngology, 3 cases of meningitis, were treated with middle ear surgery after intracranial infection control, 1 case was treated with middle ear lesions and intracranial infection simultaneously, and 2 cases were treated with sigmoid sinus and transverse sinus thrombosis conservatively. They were followed up for 1-6 years. Descriptive statistical methods were used for analysis. Results:All the 11 patients had ear varying symptoms, including ear pain, pus discharge and hearing loss, etc, and then fever appeared, headache, disturbance of consciousness, facial paralysis and other intracranial complication. Otoendoscopy showed perforation of the relaxation of the tympanic membrane in 5 cases, major perforation of the tension in 3 cases, neoplasia in the ear canal in 1 case, bulging of the tympanic membrane in 1 case, and turbidity of the tympanic membrane in 1 case. There were 4 cases of conductive hearing loss, 4 cases of mixed hearing loss and 3 cases of total deafness. Imaging examination showed cholesteatoma of the middle ear complicated with temporal lobe brain abscess in 4 cases, cerebellar abscess in 2 cases, cholesteatoma of the middle ear complicated with intracranial infection in 3 cases, and sigmoid sinus thrombophlebitis in 2 cases. In the etiological examination, 2 cases of Streptococcus pneumoniae were cultured in the pus of brain abscess and cerebrospinal fluid, and 1 case was cultured in streptococcus vestibularis, Bacteroides uniformis and Proteus mirabilis respectively. During the follow-up, 1 patient died of cardiovascular disease 3 years after discharge, and the remaining 10 patients survived. There was no recurrence of intracranial and middle ear lesions. Sigmoid sinus and transverse sinus thrombosis were significantly improved. Conclusion:Brain abscess, intracranial infection and thrombophlebitis are the most common otogenic intracranial complications, and cholesteatoma of middle ear is the most common primary disease. Timely diagnosis, multidisciplinary collaboration, accurate grasp of the timing in the treatment of primary focal and complications have improved the cure rate of the disease.

Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree featuring congenital profound syndromic deafness and chronic constipation, and provide prenatal diagnosis for a high-risk fetus.@*METHODS@#Whole-exome sequencing was carried out to analyze the sequences of genes associated with hereditary deafness, and multiplex ligation-dependent probe amplification (MLPA) was used to verify the candidate variant in the proband's parents and the fetus.@*RESULTS@#The proband was found to have harbored a heterozygous deletion of SOX10, a pathogenic gene associated with Waardenburg syndrome type 4C (WS4C). The same deletion was found in her mother (with profound syndromic deafness and chronic constipation) and the fetus, but not in her father with normal hearing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the SOX10 gene deletion was predicted to be a pathogenic variant (PVS1+PM2_Supporting+PP1+PP4).@*CONCLUSION@#The pedigree was diagnosed with WS4C, which has conformed to an autosomal dominant inheritance. Deletion of the entire SOX10 gene, as a loss-of-function variant, probably underlay its pathogenesis. Above finding has facilitated genetic counseling and prenatal diagnosis for this family.

Clinical and genetic analysis of a child with X-linked dominant Alport syndrome / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical features and genetic variant of a child with X-linked dominant Alport syndrome (XLAS).@*METHODS@#A child who had presented at the First Affiliated Hospital of Zhengzhou University in May 2019 was selected as the study subject. Clinical data of the child was collected. Next generation sequencing (NGS) was carried out for the child. Candidate variants were validated by Sanger sequencing of his family members.@*RESULTS@#The child, a 12-year-old boy, had mainly manifested gross hematuria, proteinuria, nephrotic syndrome, and progressive renal impairment in conjunct with hearing loss. Kidney biopsy has revealed uneven glomerular basement membrane thickness. DNA sequencing revealed that the child and his mother have both carried a heterozygous c.2632G>A (p.G878R) variant of the COL4A5 gene, for which his father and brother were of the wild type. This variant was unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PS1+PM1+PM2_Supporting+PP3).@*CONCLUSION@#The maternally derived hemizygous c.2632G>A (p.G878R) variant of the COL4A5 gene probably underlay the XLAS in this child. Above finding has enriched the mutational spectrum of the COL4A5 gene.

Comparative study of surgical effects on patients with mixed deafness and otosclerosis with different air bone conduction differences / 中华耳鼻咽喉头颈外科杂志

Objective: To analyze the surgical efficacy of patients with mixed hearing loss and otosclerosis with different air bone gap (ABG) before surgery, and to provide reference for the prognosis evaluation of otosclerosis surgery. Methods: The clinical data of 108 cases(116 ears) of otosclerosis who had undergone stapes fenestration technique artificial stapes implantation in Xiangya Hospital of Central South University from November 2013 to May 2020 and had mixed hearing loss before surgery were collected, including 71 women(76 ears)and 37 men (40 ears), with an average age of 38.5 years. According to preoperative pure tone audiometry ABG, they were divided into three groups: group S, 15 dB≤ABG<31 dB, a total of 39 ears; group M, 31 dB≤ABG<46 dB, a total of 58 ears; and group L, ABG≥46 dB, 19 ears in total. The hearing outcomes of three groups of patients at 6-12 months after surgery were compared and analyzed using SPSS 24.0 statistical software. Results: A total of 3 patients (group S: 2 cases; group L: 1 case) experienced severe sensorineural hearing loss after surgery and were not included in the statistical analysis. After surgery, the pure tone hearing threshold of patients with otosclerosis in each group was significantly improved compared to before surgery, with an average air conduction threshold improvement of(21.6±13.4) dB. The difference between before and after surgery was statistically significant(t=17.13, P<0.01). The average bone conduction threshold improved by(3.7±7.6) dB, and the difference was statistically significant before and after surgery(t=5.20, P<0.01). The postoperative ABG was(18.3±9.3) dB, which was significantly reduced compared to preoperative(36.2±8.6)dB. Among the three groups of patients, the L group had the highest improvement in air conduction threshold[(29.9±10.8)dB], while the S group had the lowest improvement[(15.7±11.4)dB]. There was no statistically significant difference in post operative pure tone hearing thresholds between the three groups(P>0.05). The postoperative ABG in group S was the smallest[(16.5±9.0)dB], while in group L, the postoperative ABG was the largest[(20.5±10.0)dB]. Compared with group S, group M and group L still had a large residual ABG at 2 000 Hz after surgery. The bone conduction threshold of both S and M groups improved to some extent after surgery compared to before (P<0.01). Conclusions: Surgery can benefit patients with mixed hearing loss and otosclerosis with different preoperative ABG. Patients with small preoperative ABG have better surgical results and ideal ABG closure at all frequencies after surgery. Patients with large preoperative ABG can significantly increase the gas conduction threshold during surgery, but certain frequencies of ABG may still be left behind after surgery. The improvement effect of surgery on bone conduction threshold is not significant. Patients should be informed of treatment methods such as hearing aids based on their actual situation for selection.

Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations / 中华耳鼻咽喉头颈外科杂志

Objective: To analyze the phenotypic-genotypic characteristics of hereditary deafness caused by OTOA gene variations. Methods: Family histories, clinical phenotypes and gene variations of six pedigrees were analyzed, which were diagnosed with hearing loss caused by OTOA gene variations at the PLA General Hospital from September 2015 to January 2022. The sequence variations were verified by Sanger sequencing and the copy number variations were validated by multiplex ligation-dependent probe amplification (MLPA) in the family members. Results: The hearing loss phenotype caused by OTOA variations ranged from mild to moderate in the low frequencies, and from moderate to severe in the high frequencies in the probands, which came from six sporadic pedigrees, among which a proband was diagnosed as congenital deafness and five were diagnosed as postlingual deafness. One proband carried homozygous variations and five probands carried compound heterozygous variations in OTOA gene. Nine pathogenic variations (six copy number variations, two deletion variations and one missense variation) and two variations with uncertain significance in OTOA were identified in total, including six copy number variations and five single nucleotide variants, and three of the five single nucleotide variants were firstly reported [c.1265G>T(p.Gly422Val),c.1534delG(p.Ala513Leufs*11) and c.3292C>T(p.Gln1098fs*)]. Conclusions: OTOA gene variations can lead to autosomal recessive nonsyndromic hearing loss. In this study, the hearing loss caused by OTOA defects mostly presents as bilateral, symmetrical, and postlingual, and that of a few presents as congenital. The pathogenic variations of OTOA gene are mainly copy number variations followed by deletion variations and missense variations.

Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant / 中华耳鼻咽喉头颈外科杂志

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.