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.

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.

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 rehabilitation effects of cochlear implantation in elderly patients with prelingual deafness / 临床耳鼻咽喉头颈外科杂志

Objective:The auditory and speech rehabilitation effects were assessed by the Categories of Auditory Performance（CAP） and the speech intelligibility rating scale（SIR） after cochlear implantation（CI） in prelingually elderly patients by telephone follow-up or face-to-face conversation. Methods:The clinical data of the prelingually deaf patients who underwent unilateral CI in the Department of Otorhinolaryngology and Head and Neck Surgery, Shanxi People's Hospital, from December 2016 to December 2021 were collected. Thirty-eight patients were divided into Group A（SIR 1, 17 cases）, Group B（SIR 2, 10 cases） and Group C（SIR 3, 11 cases） according to the preoperative SIR Score. Nineteen patients with post-lingual hearing impairment were selected as the control group（Group D, 19 cases）. The effects of hearing and speech rehabilitation were evaluated using CAP and SIR Scores before surgery, 6 months after startup, and 1 year after startup. Results:There were no significant differences in CAP scores among the three groups of patients with prelingually deaf patients at 6 months and 1 year after startup（P>0.05）, but there were significant differences between group A and group D at 6 months and 1 year after startup（P<0.05）; the SIR Score of group A had statistical difference before surgery and 6 months after startup（P<0.05）, group B had statistical difference before surgery and 1 year after startup（P<0.05）, and group C and D had no statistical difference before surgery and 6 months and 1 year after startup, respectively（P>0.05）. Conclusion:For the prelingually deaf elderly patients, hearing will develop rapidly 6 months after startup, and the effect of postoperative auditory rehabilitation was positively correlated with the preoperative speech ability. In the aspect of speech, the prelingually dear elderly patients who have poor preoperative speech ability could benefit more from CI early after surgery. CI is not contraindicated in prelingually deaf elderly patients, even those with poor preoperative speech function.

Results of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical significance of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province.@*METHODS@#Results of audiological examinations, including transient evoked otoacoustic emission and automatic discriminative auditory brainstem evoked potentials, for 6 723 newborns born in Yuncheng area from January 1, 2021 to December 31, 2021, were retrospectively analyzed. Those who failed one of the tests were considered to have failed the examination. A deafness-related gene testing kit was used to detect 15 hot spot variants of common deafness-associated genes in China including GJB2, SLC26A4, GJB3, and mtDNA12S rRNA. Neonates who had passed the audiological examinations and those who had not were compared using a chi-square test.@*RESULTS@#Among the 6 723 neonates, 363 (5.40%) were found to carry variants. These have included 166 cases (2.47%) with GJB2 gene variants, 136 cases (2.03%) with SLC26A4 gene variants, 26 cases (0.39%) with mitochondrial 12S rRNA gene variants, and 33 cases (0.49%) with GJB3 gene variants. Among the 6 723 neonates, 267 had failed initial hearing screening, among which 244 had accepted a re-examination, for which 14 cases (5.73%) had failed again. This has yielded an approximate prevalence of hearing disorder of 0.21% (14/6 723). Among 230 newborns who had passed the re-examination, 10 (4.34%) were found to have carried a variant. By contrast, 4 out of the 14 neonates (28.57%) who had failed the re-examination had carried a variant, and there was a significant difference between the two groups (P < 0.05).@*CONCLUSION@#Genetic screening can provide an effective supplement to newborn hearing screening, and the combined screening can provide a best model for the prevention of hearing loss, which can enable early detection of deafness risks, targeted prevention measures, and genetic counseling to provide accurate prognosis for the newborns.

Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for four Chinese pedigrees affected with Waardenburg syndrome (WS).@*METHODS@#Four WS probands and their pedigree members who had presented at the First Affiliated Hospital of Zhengzhou University between July 2021 and March 2022 were selected as the study subjects. Proband 1, a 2-year-and-11-month female, had blurred speech for over 2 years. Proband 2, a 10-year-old female, had bilateral hearing loss for 8 years. Proband 3, a 28-year-old male, had right side hearing loss for over 10 years. Proband 4, a 2-year-old male, had left side hearing loss for one year. Clinical data of the four probands and their pedigree members were collected, and auxiliary examinations were carried out. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Proband 1, with profound bilateral sensorineural hearing loss, blue iris and dystopia canthorum, was found to have harbored a heterozygous c.667C>T (p.Arg223Ter) nonsense variant of the PAX3 gene, which was inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type I. Proband 2, with moderate sensorineural hearing loss on the right side and severe sensorineural hearing loss on the left side, has harbored a heterozygous frameshifting c.1018_1022del (p.Val340SerfsTer60) variant of the SOX10 gene. Neither of her parents has harbored the same variant. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4+PM6), and the proband was diagnosed with WS type II. Proband 3, with profound sensorineural hearing loss on the right side, has harbored a heterozygous c.23delC (p.Ser8TrpfsTer5) frameshifting variant of the SOX10 gene. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II. Proband 4, with profound sensorineural hearing loss on the left side, has harbored a heterozygous c.7G>T (p.Glu3Ter) nonsense variant of the MITF gene which was inherited from his mother. Based on the ACMG guidelines, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II.@*CONCLUSION@#By genetic testing, the four probands were all diagnosed with WS. Above finding has facilitated molecular diagnosis and genetic counseling for their pedigrees.

A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases.@*METHODS@#A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was carried out to detect the definite pathogenic variant sites with high-frequency of 135 disease-related genes. Candidate variants were verified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#Among the 2 060 newborns, 31 were diagnosed with genetic diseases, 557 were found to be carriers, and 1 472 were negative. Among the 31 neonates, 5 had G6PD, 19 had hereditary non-syndromic deafness due to variants of GJB2, GJB3 and MT-RNR1 genes, 2 had PAH gene variants, 1 had GAA gene variants, 1 had SMN1 gene variants, 2 had MTTL1 gene variants, and 1 had GH1 gene variants. Clinically, 1 child had Spinal muscular atrophy (SMA), 1 had Glycogen storage disease II, 2 had congenital deafness, and 5 had G6PD deficiency. One mother was diagnosed with SMA. No patient was detected by conventional tandem mass spectrometry. Conventional fluorescence immunoassay had revealed 5 cases of G6PD deficiency (all positive by genetic screening) and 2 cases of hypothyroidism (identified as carriers). The most common variants identified in this region have involved DUOX2 (3.93%), ATP7B (2.48%), SLC26A4 (2.38%), GJB2 (2.33%), PAH (2.09%) and SLC22A5 genes (2.09%).@*CONCLUSION@#Neonatal genetic screening has a wide range of detection and high detection rate, which can significantly improve the efficacy of newborn screening when combined with conventional screening and facilitate secondary prevention for the affected children, diagnosis of family members and genetic counseling for the carriers.

Progress of research on the role of Atoh1 gene in the regeneration of mammalian auditory hair cells / 中华医学遗传学杂志

Atoh1 gene encodes a helix-loop-helix transcription factor which is involved in the generation and differentiation of mammalian auditory hair cells and supporting cells, and regulation of the proliferation of cochlear cells, therefore plays an important role in the pathogenesis and recovery of sensorineural deafness. This study reviews the progress of the Atoh1 gene in hair cell regeneration, with the aim of providing a reference for the study of hair cell regeneration gene therapy for sensorineural deafness.

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.

Reclassification of flat type sudden deafness / 中华耳鼻咽喉头颈外科杂志

Objective: To reclassify the flat type sudden deafness according to the types of audiogram shape, and to explore the correlation between different pattern of hearing loss and prognosis. Methods: All of 1 024 patients with unilateral sudden deafness (492 males and 532 females, aged from 19 to 65 years, with an average age of 41.2 years old) admitted to 33 hospitals nationwide from August 2007 to October 2011 were divided into four types according to Chinese Guideline of Sudden Deafness(2015): low-frequency, high-frequency, flat and total deafness. Then, 402 patients with flat type sudden deafness were further divided into ascending type, descending type and consistent type according to the audiogram shapes. First, we compared the clinical characteristics and prognosis among these three subtypes of flat deafness, then compared the clinical characteristics and prognosis between ascending flat deafness and low-frequency deafness, descending flat deafness and high-frequency deafness, consistent flat deafness and total deafness, explored the factors related to the prognosis of flat deafness. SPSS 21.0 software, ANOVA, χ2 test, t-test and Logistic regression were used to analyze the data. Results: The cure rates of flat ascending, flat descending and flat consistent sudden deafness groups were 70.7%, 17.1% and 34.0% respectively, with a statistically significant difference (χ2=33.984, P<0.001); However, there was no significant difference in age, sex and affected side (all P>0.05). The independent related factors for the recovery of flat type sudden deafness were as follows: whether there was dizziness [OR=0.459; 95% confidence interval (CI): 0.271-0.777], the type of audiogram shape (OR=0.721; 95%CI: 0.530-0.981), and days from onset to therapy (OR=0.903, 95%CI: 0.835-0.978), all of which had P values<0.05. There was no significant difference in the cure rates between ascending flat sudden deafness and low-frequency descending sudden deafness, descending flat sudden deafness and high-frequency descending sudden deafness (all P>0.05). The pure tone average(PTA) of flat consistent sudden deafness and total deafness were (69.1±18.9) and (101.7±17.7) dB HL, respectively, with a statistically significant difference (t=20.890, P<0.001), and the cure rates were 34.0% and 14.5%, respectively, with a statistically significant difference (χ2=29.012, P<0.001). Conclusion: According to the audiogram shape, the flat type sudden deafness can be further divided into ascending flat sudden deafness, descending flat sudden deafness and consistent flat sudden deafness, which can more effectively evaluate the prognosis. The cure rate of ascending flat sudden deafness is similar to that of low-frequency sudden deafness, and the prognosis is well; The cure rate of descending flat sudden deafness is similar to that of high-frequency descending sudden deafness, and the prognosis is poor. The cure rate of consistent flat sudden deafness is higher than that of total deafness. PTA plays an important role in the prognosis of consistent flat sudden deafness and total deafness. Total deafness can be regarded as a single type of sudden deafness.

Long-term evaluation and physical and mental effects of residual tinnitus following treatment of sudden hearing loss / 中华耳鼻咽喉头颈外科杂志

Objective: To clarify the long-term characteristics of tinnitus following treatment of sudden deafness and its long-term physical and mental effects on patients. Methods: A retrospective analysis was performed on 88 patients (46 males and 42 females; Age from 11 to 89 years) with sudden deafness treated in Department of Otoscope Surgery of Peoples's Libration Army General Hospital in Beijing from April 2020 to January 2021, and the occurrence of tinnitus and treatment effect of all patients were analyzed. Follow-up was conducted for patients with residual tinnitus after treatment for more than 1 year by the investigation and filling in the survey information collection form, Tinnitus Evaluation Questionnaire (TEQ) and Tinnitus Handicap Inventory (THI). Descriptive statistics and SPSS 22.0 software were used for statistical data analysis. Results: In this study, 93.2% (82/88) of patients with sudden deafness were accompanied by tinnitus at the onset, and the proportion of long-term tinnitus after treatment was 90.2% (74/82). After 1 year of treatment for sudden deafness, the improvement of tinnitus was significant in low-frequency sudden deafness compared with those of high-frequency, flat and total deafness sudden deafness (χ2 value was 6.801, 4.568 and 4.038, all P<0.05). In patients with residual tinnitus, 9 (12.2%) patients felt minimal loudness or even no loudness, 34 (46.0%) patients felt slight loudness, 28 (37.8%) patients felt tinnitus was relatively loud, and 3 (4.1%) patients felt tinnitus was loud or noisy. Nine (12.2%) patients's sleep was often affected, 41 (55.4%) patients's sleep was sometimes affected, 9 (12.2%) patients's sleep was rarely affected, 15 (20.3%) patients's sleep was almost not affected. Twenty-eight (37.8%) patients basically completely adapted to tinnitus and 46 (62.2%) patients did not completely adapted to residual tinnitus. Eight (10.8%) patients had no impact on life, 39 (52.7%) patients had slight impact, 22 (29.7%) patients had moderate impact, and the other 5 (6.8%) patients had greater impact. According to tinnitus evaluation questionnaire(TEQ), there were 12 cases (16.2%) of grade Ⅰ, 26 cases (35.1%) of grade Ⅱ, 28 cases (37.8%) of grade Ⅲ, 7 cases (9.5%) of grade Ⅳ and 1 case (1.4%) of grade Ⅴ. According to tinnitus handicap inventory(THI), tinnitus disability was classified into grade Ⅰ, 22 cases (29.7%), grade Ⅱ, 14 cases (18.9%), Grade Ⅲ, 27 cases (36.5%) and grade Ⅳ, 11 cases (14.9%). Conclusion: The rate of residual tinnitus following treatment of sudden deafness is high. Some of the patients can completely adapt residual tinnitus after one year, but some of them will be affected when sleep, work and study. Residual tinnitus can lead to tinnitus disability in different degrees.

Research on early warning model of the hearing loss of workers exposed to noise / 中华劳动卫生职业病杂志

Objective: To explore the change of hearing threshold of workers exposed to noise, establish an individual-based hearing loss early warning model, accurately and differentiated the health of workers exposed to noise. Methods: In September 2019, all physical examination data of 561 workers exposed to noise from an enterprise were collected since their employment. Three indicators of average hearing threshold of the better ear, namely, at high frequency, 4000 Hz and speech frequency, were constructed. The generalized estimating equation (GEE) was used to adjust gender and age and establish the warning model of each indicator. Finally, sensitive indicators and warning models were screened according to AUC and Yoden index. Results: Among the 561 workers exposed to noise, 26 (4.6%) workers had hearing loss. The sensitivity indicators were the average hearing threshold at speech frequency ≥20 dB, high frequency ≥30 dB and 4000 Hz ≥25 dB. The AUC of each index was 0.602, 0.794 and 0.804, and the Youden indexes were 0.204, 0.588 and 0.608, respectively. In GEE of hearing loss warning models, high-frequency hearing threshold ≥20 dB and 4000 Hz hearing threshold ≥25 dB were the optimal models, with AUC of 0.862. Conclusion: Combined with the changes of individual hearing threshold over the years, can accurately assess the risk of individual hearing loss of workers exposed to noise.

Association of glycemic index using HbA1c and sensorineural hearing loss in diabetes mellitus type 2 patients: A systematic review and meta-analysis

Objective@#To systematically review the available evidence on the association of HBA1c levels and development of sensorineural hearing loss and to quantitatively analyze the available data on HBA1c levels in patients with type 2 diabetes mellitus and sensorineural hearing loss to determine an HbA1c level that may be associated with the risk of having sensorineural hearing loss.@*Methods@#Design: Systematic Review and Meta-analysis Eligibility Criteria: Cross-sectional studies, or cohort studies which were limited to English language that investigated the correlation of glycemic index using HBA1c and sensorineural hearing loss among adult type 2 diabetic patients which were done from January 2010 to December 2021. Studies with no published outcome, incomplete data or that were ongoing as of August 1, 2022 were also excluded. Information Sources: MEDLINE (through PubMed), Cochrane Library, Scopus, Embase (through OVID@journal), Directory of Open Access Journals (DOAJ), Google Scholar and HERDIN Plus Risk of Bias: Risk of Bias was assessed using the Guidelines for Cochrane Collaboration Synthesis of Results: Results were presented using forest plots for representation.@*Results@#A total of 8 studies were reviewed with 2,103 participants in all. Six articles compared hearing loss incidence between diabetic and non-diabetic patients. Overall, there were a total of 881 diabetic patients and 1222 non-diabetic patients. There was a significantly lower incidence of sensorineural hearing loss in non-diabetic patients with a risk ratio of 1.89, 95% CI [1.65, 2.16]. Three articles compared the HbA1c levels of diabetic patients with or without sensorineural hearing loss. Diabetic patients without sensorineural hearing loss had significantly lower HbA1c levels compared to those with sensorineural hearing loss with mean difference of 1.04, 95%CI [0.82, 1.25].@*Conclusion@#In conclusion, this meta-analysis showed a higher prevalence rate of sensorineural hearing loss among patients with diabetes mellitus compared to non-diabetic patients. Moreover, poor glycemic control among diabetic patients with a glycemic index based on HbA1c of more than 8.3 (6.97-9.6) is associated with sensorineural hearing loss.

O ensino da língua brasileira de sinais (Libras) sob a ótica de um professor surdo e de uma professora ouvinte / Teaching Brazilian Sign Language (Libras) as per the perspective of a deaf teacher and a hearing teacher: the place of Libras in the curriculum / La enseñanza de la lengua brasileña de Signos (Libras) desde la perspectiva de un maestro sordo y un maestro oyente: el lugar de Libras en el currículo

A Libras é reconhecida como língua da Comunidade Surda brasileira desde abril do ano de 2002, esse reconhecimento se deu graças a uma intensa mobilização da Comunidade Surda. Embora algumas pessoas afirmem que ela é a segunda língua oficial do Brasil, na verdade é uma língua reconhecida como "língua das comunidades surdas brasileiras (Brasil, 2002)" e esse reconhecimento se deu a partir da Lei 10436/02. Após o reconhecimento da língua o Decreto 5626/05 trouxe a obrigatoriedade do seu ensino para os cursos de licenciaturas. Podemos dizer que esse primeiro contato dos licenciandos com a realidade da trajetória dos surdos por educação e da complexidade da Libras é extremamente importante para que os processos de desenvolvimento da Comunidade sejam garantidos e principalmente para que a Língua de Sinais não seja banalizada, simplificada ou fique subordinada à Língua Portuguesa. Neste trabalho, trazemos um pouco da experiência como professores da disciplina em universidades federais, um surdo e uma ouvinte. Além disso, trazemos alguns dados produzidos em um projeto de formação com professores surdos de uma instituição escolar bilíngue para surdos. A partir dos discursos trazidos por esses atores, analisamos os dados com base nos princípios da PCCol - Pesquisa Crítica de Colaboração, Magalhães (2006), que destaca como uma perspectiva teórico-metodológica que favorece a co(construção) dos participantes da pesquisa, assim como a uma construção coletiva de escola e Universidade. Trata-se de um quadro que revela nosso compromisso como professor/a-pesquisador/a, que perseguem a ideia de que ensinar e aprender compõem um caminho de mão dupla. (AU)

Brazilian Sign Language ­ Libras ­ has been recognize as the language of the Brazilian Deaf Community since April 2002, and this recognition occurred as the result of intense activism from the Deaf Community. Although some people may state that Libras is the second official language in Brazil, it is, in actual fact, recognized as the language of Brazilian deaf communities, and this recognition took place as of the publication of Act 10436/02. Following this recognition, the Decree number 5626/05 made it compulsory for Libras to be taught in teaching undergraduate programs. We can say that this first contact for undergraduate students taking their teaching degrees with the paths tread by the deaf in pursue of education, as well as a first understanding of the complexity of Libras is extremely important for the developmental processes of the Community to the guaranteed. It is even more important as a means to prevent the Sign Language from being taken for granted, simplified or considered as a inferior to the Portuguese Language. In this paper, we - a deaf and a hearing professors - discuss some elements of the experience of teaching the language in Federal Universities. We also discuss some data that were produced in a bilingual school, working in teacher education with deaf teachers. By looking at the discourses that the participants present, we analyze the data as per the canons of the Critical Collaborative Research (PCCol), Magalhães, 2006, that was the theoretical-methodological bases for the investigation/teacher education project, and that is a perspective that favors co-construction within the context and school-university collective construction as well. This framework is what allows us to focus on and reveal our commitment as teachers researchers within the belief that teaching and learning compose the same two-way path. (AU)

Libras es reconocida como la lengua de la Comunidad Sorda Brasileña desde abril de 2002, este reconocimiento se debió a una intensa movilización de la Comunidad Sorda. Aunque algunas personas afirman que es el segundo idioma oficial de Brasil, en realidad es un idioma reconocido como "el idioma de las comunidades sordas brasileñas (Brasil, 2002)" y este reconocimiento provino de la Ley 10436/02. Luego del reconocimiento de la lengua, el Decreto 5626/05 hizo obligatoria su enseñanza para los cursos de formación docente. Podemos decir que este primer contacto de los estudiantes de estos cursos con la realidad de la trayectoria de los sordos a través de la educación y la complejidad de Libras es sumamente importante para que se garanticen los procesos de desarrollo comunitario y sobre todo para que la Lengua de Señas no sea banalizada, simplificada o subordinada. a la lengua portuguesa. En este trabajo aportamos un poco de la experiencia como profesores de la disciplina en universidades federales, una persona sorda y una oyente. Además, traemos algunos datos producidos en un proyecto de formación con profesores sordos de una institución escolar bilingüe para sordos. A partir de los discursos traídos por estos actores, analizamos los datos con base en los principios de PCCol - Critical Collaboration Research, Magalhães (2006), que destaca como una perspectiva teórico-metodológica que favorece la co(construcción) de los participantes de la investigación, así como como una construcción colectiva de escuela y universidad. Es un marco que revela nuestro compromiso como docente/investigador, que perseguimos la idea de que la enseñanza y el aprendizaje forman un camino de dos vías. (AU)

Usos de cámara hiperbárica en otorrinolaringología / Uses for hyperbaric chambers in otolaryngology

Resumen En la terapia con oxígeno hiperbárico (HBO) se utiliza oxígeno al 100% de concentración en una cámara presurizada con presiones supraatmosféricas, que corresponden de 2 a 3 atmósferas. Los mecanismos por los cuales funciona esta terapia se relacionan con propiedades físicas de los gases y su comportamiento fisiológico en el organismo, lo que lleva finalmente a la hiperoxia, evento fisiológico que permite la obtención de diversos efectos beneficiosos. La evidencia en medicina ha demostrado su utilidad mayormente en la enfermedad por descompresión, infecciones cutáneas graves e intoxicación por monóxido de carbono. En el ámbito de la otorrinolaringología ha probado ser útil en algunas enfermedades como la hipoacusia súbita idiopática, tanto como terapia única como asociada al uso de corticosteroides, como en la osteomielitis refractaria del oído externo, la que en conjunto con antibioticoterapia y manejo quirúrgico presenta un evidente aumento en la tasa de mejoría. Cabe mencionar que la terapia con HBO ha demostrado también beneficios en los tratamientos y complicaciones posteriores a la radiación en pacientes con cáncer de cabeza y cuello. Es importante mencionar que la terapia con HBO no está exenta de riesgos y requiere que los pacientes cumplan con características específicas para su utilización, por lo que su indicación debe ser juiciosa y en casos seleccionados.

Abstract In hyperbaric oxygen therapy, 100% pure oxygen is used in a pressurized chamber with super atmospheric pressures which correspond to 2-3 atmospheres. The mechanism by which this treatment works is related to the physical properties of gases and their physiological behavior in the body, which leads to hyperoxia, the physiological event which allows for diverse beneficial health effects. The evidence in medicine has proven its utility mainly in decompression sickness, severe skin infections and carbon monoxide poisoning. In the otolaryngology field it has been proven useful in diseases like idiopathic sudden sensorineural hearing loss, both as the only treatment and as a concurrent treatment along with corticosteroids, in malignant otitis externa which in conjunction with antibiotic treatment and a surgical approach presents a clear increase in improvement rates. It must be mentioned that hyperbaric chamber treatment has also shown benefits in radiation treatment and post radiation complications in head and neck cancer patients. It is important to note that hyperbaric oxygen therapy is not without risks and patients must meet specific criteria for it to be applied, therefore it must be indicated using careful judgement and only in necessary cases.

Adecuaciones para la atención de personas con discapacidad sensorial en los CESFAM del Servicio de Salud Concepción / Adjustments for the care of people with sensory disabilities in primary health centers

BACKGROUND: People with Sensory Disabilities (PcDS) face barriers for equal access to health care. Thus, health centers require adjustments to comply with equal access that allows an universal coverage of care. AIM: To characterize the adjustments for the care of PcDS in primary health centers in Concepción, Chile. Material and Methods: Cross-sectional study using data obtained through a questionnaire to key informants or via Transparency Law, and direct observation. The variables were subdivided into four categories, namely infrastructure, communication, skills, and environment. RESULTS: The analyzed health centers have a high proportion of general adjustments of their physical settings. However, there is a lack of specific adjustments for deaf and blind people, especially communicational ones. Conclusions: There is a paucity of adjustments for the health care of PcDS in the analyzed health centers. This deficiency underscores the barriers faced by PcDS for receiving care in the Chilean public health system.

Representação social sobre a surdez: uma revisão integrativa / Social representation on deafness: an integrative review / Representación social sobre la sordera: una revisíon integradora

O presente estudo teve como objetivo realizar uma revisão integrativa da lite-ratura referente aos estudos científicos que envolvessem a representação social e a surdez. Para isso, realizou-se uma busca nas bases de dados SciELO.org, PePSIC, LILACS, PsycINFO (APA) e Scopus (Elsevier), por meio da plataforma Periódicos CAPES no mês de setembro do ano 2020. Os descritores foram: representação social, surdez, surdo e deficiente auditivo, na língua portuguesa, inglesa e espanhola. Foram analisados 11 artigos e com resultados acerca das populações surda e ouvinte. Nos artigos com pessoas surdas observam--se temáticas sobre identidade, cultura e direitos enquanto cidadãos para dirimirem e modificarem os estereótipos acerca da surdez. As pesquisas com os ouvintes foram realizadas com os familiares e a sociedade de modo geral, tendo como destaque representações baseadas em estereótipos negativos e aspectos limitantes. Ademais, sugerem-se novas produções cientificas que deem continuidade à teoria das representações sociais associadas com outros aspectos que envolvam a surdez e tenham como amostra, a comunidade surda.

The present study aimed to carry out an integrative review of the literature regarding scientific studies involving social representation and deafness. For this, a search was carried out in the databases SciELO.org, PePSIC, LILACS, PsycINFO (APA) and Scopus (Elsevier), through the platform Periodicals CAPES, in September 2020. The descriptors were: representation social, deaf, deaf and hearing impaired, in Portuguese, English and Spanish. Eleven articles were analyzed with abouth the deaf, and hearing populations. In the articles with deaf people, themes about identity, culture and rights as citizens are observed to resolve and modify stereotypes about deafness. Surveys with listeners were carried out with family members and society in general, highli-ghting representations based on negative stereotypes and limiting aspects. Furthermore, new scientific productions are suggested that give continuity to the theory of social representations associated with other aspects that involve deafness and have the deaf community as a sample.

El presente estudio tuvo como objetivo realizar una revisión integradora de la literatura sobre estudios científicos que involucran la representación social y la sordera. Para ello, se realizó una búsqueda en las bases de datos SciELO.org, PePSIC, LILACS, PsycINFO (APA) y Scopus (Elsevier), a través de la plataforma de Publicaciones CAPES, en septiembre de 2020. Los descriptores fueron: representación social, sordo, sordo y con discapacidad auditiva, en portugués, inglés y español. Se analizaron once artículos con resultados sobre la población sorda y auditiva. En los artículos con personas sordas se observan temas sobre identidad, cultura y derechos como ciudadanos para resolver y modificar estereotipos sobre la sordera. Se realizaron encuestas con los oyentes a familiares y sociedad en general, destacando representaciones basadas en estereotipos negativos y aspectos limitantes. Además, se sugieren nuevas producciones científicas que dan continuidad a la teoría de las representaciones sociales asociadas a otros aspectos que involucran la sordera y tienen como muestra a la comunidad sorda.