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1.
Rev. otorrinolaringol. cir. cabeza cuello ; 82(3): 391-397, sept. 2022.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1409951

ABSTRACT

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.


Subject(s)
Humans , Osteomyelitis/therapy , Deafness/therapy , Head and Neck Neoplasms/therapy , Hyperbaric Oxygenation/methods , Otolaryngology , Hyperoxia , Hearing Loss/therapy , Hearing Loss, Sensorineural/therapy
2.
Psicol. rev ; 31(1): 67-89, jun. 2022. ilus, tab
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1399303

ABSTRACT

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.


Subject(s)
Humans , Deafness , Social Representations , Social Behavior , Stereotyping , Family , Disabled Children/psychology
3.
Online braz. j. nurs. (Online) ; 21(supl.2): e20226544, 21 janeiro 2022. ilus, tab
Article in English, Spanish, Portuguese | LILACS, BDENF | ID: biblio-1359633

ABSTRACT

OBJETIVO: Identificar possibilidades/condições de acessibilidade à pessoa surda sobre informações relacionadas à pandemia por coronavírus disponíveis na plataforma YouTube. MÉTODO: Estudo descritivo-exploratório analisou vídeos disponibilizados em sites oficiais do governo entre março/2020 a março/2021. Buscaram-se aspectos indicativos de acessibilidade na comunicação (Legendas e/ou Intérprete de Libras) nos conteúdos audiovisuais. RESULTADOS: Dos 2.577 vídeos acessados, quase 60% apresentaram acessibilidade parcial (Libras ou legendas), aproximadamente 30% sem acessibilidade e, 9,8% apresentaram (legenda + Libras). Assim, a condição esperada à acessibilidade na comunicação (presença de legenda e Libras nos materiais audiovisuais) apresentou baixo percentual contrapondo-se ao elevado número de vídeos sem acessibilidade. CONCLUSÃO: Recursos audiovisuais são fundamentais na comunicação da pessoa surda e condições adequadas favorecem o acesso às informações circulantes nas plataformas de vídeos. A temática é relevante, mas ainda, pouco abordada necessitando outros estudos. Para além da pandemia, ampliarmos esta discussão visando reduzir e/ou eliminar barreiras comunicativas, é outra necessidade.


OBJECTIVE: To identify possibilities/conditions for deaf persons to access information related to the coronavirus pandemic available at the YouTube platform. METHOD: Descriptive-exploratory study analyzed vídeos available in the government's oficial sites from March 2020 to March 2021. The research was centered on indicative aspects of accessibility in the communication (text captions and/or LIBRAS interpreter) in audio-visual contents. RESULTS: Out of the 2.577 videos analyzed, some 60% presented partial accessibility (LIBRAS or text captions); about 30% offered no accessibility at all; and 9.8% offered text captions + LIBRAS. Therefore, the result proved low percentage of records of the expected condition for accessibility in communication (the presence of text captions and LIBRAS), as opposed to the high number of videos with no accessibility. Conclusions: Audio-visual resources are critical for the communication of deaf persons, and adequate conditions favor the access to information provided in video platforms. The theme is relevant, yet not sufficiently discussed, thus demanding further studies. Beyond the pandemic, widening this discussion in order to reduce and/or eliminate communication barriers is also required.


OBJETIVO: Identificar las posibilidades/condiciones de accesibilidad para la persona sorda sobre la información relacionada con la pandemia de coronavirus disponible en la plataforma YouTube. MÉTODO: El estudio descriptivo exploratorio analizó vídeos disponibles en los sitios web oficiales del gobierno brasileño entre marzo/2020 y marzo/2021. Se buscaron aspectos indicativos de accesibilidad en la comunicación (subtítulos y/o intérprete de lengua de señas) en los contenidos audiovisuales. RESULTADOS: De los 2.577 vídeos a los que se accedió, casi el 60% presentaban una accesibilidad parcial (lengua de señas o subtítulos), aproximadamente el 30% ninguna accesibilidad y el 9,8% contaban con subtítulos y lengua de señas. Así, la esperada condición de accesibilidad en la comunicación (presencia de subtítulos y lengua de señas en los materiales audiovisuales) presentó un bajo porcentaje, en contraste con el alto número de vídeos sin accesibilidad. CONCLUSIONES: Los recursos audiovisuales son fundamentales en la comunicación de la persona sorda y condiciones adecuadas favorecen el acceso a la información que circula en las plataformas de vídeos. La temática es relevante, pero aún poco investigada, por lo que requieren otros estudios. Más allá de la pandemia, ampliar esta discusión para reducir y/o eliminar las barreras de comunicación es otra necesidad.


Subject(s)
Brazil , Deafness , e-Accessibility , COVID-19 , Government Agencies , Audiovisual Aids , Health Education , Access to Information , Health Communication , Social Media
4.
Article in Chinese | WPRIM | ID: wpr-936262

ABSTRACT

Objective: To analyze the incidence and risk factors of otologic disorders in patients with Turner syndrome (TS), so as to provide management strategies for ear health. Methods: This study is a prospective study based on questionnaires and a cross-sectional study. The TS patients who visited our hospital from 2010 January to 2021 March were included (A total of 71 patients with TS were included in this study. the age of TS diagnosed was 3- to 11-year-old, age of visiting ENT department was 4- to 27-year-old) and the incidence of otologic diseases in different age groups was investigated by questionnaires. The cross-sectional study included ear morphology and auditory function assessment, and further analysis of the risk factors that related to ear disease. Prism was used for data analysis. Results: The investigation found that the incidence of acute otitis media in patients aged 3-6 and 7-12 years was higher than that of patients over 12 years old, which was 33.8%(24/71), 42.9%(30/70)and 23.5%(8/34), respectively; 21.1% (15/71) of patients were recurrent acute otitis media in patients aged 3-6 years, and about 46.6% (7/15)of them persisted beyond 6-year. The prevalence of otitis media with effusion in the three groups was 32.4%(23/71), 34.3%(24/70)and 38.2%(13/34), respectively; the recurrence rate of tympanocentesis was 100%(7/7), 42.9%(3/7)and 50.0%(1/2), which was significantly higher than that of grommet insertion. For age groups of 3-6 and 7-12 years, the prevalence of acute otitis media and secretory otitis media was lower in the X chromosome structure abnormal patients; while for patients older than 12 years, otitis media with effusion was the highest prevalence in Y-chromosome-containing karyotypes. In addition, the prevalence of acute otitis media and otitis media with effusion in patients with other system diseases were increased significantly. A cross-sectional study found that 7.0% (5/71)of the lower auricular, 4.2% (3/71)of the external auditory canal narrow, and 38.0% (27/71)of the tympanic membrane abnormality. 35.2%(25/71) had abnormal hearing, including 17 cases of conductive deafness, 6 cases of sensorineural hearing loss, and 2 cases of mixed deafness. The rest of the patients had normal hearing, but 6 of them had abnormalities in otoacoustic emission. Eustachian tube function assessment found that the eustachian tube dysfunction accounted for 38%(27/71). Hearing loss and abnormal Eustachian tube function were not significantly related to karyotype(Chi-square 2.83 and 2.84,P value 0.418 and 0.417), but significantly related to other system diseases(Chi-square 13.43 and 7.53,P value<0.001). Conclusions: The incidence of TS-related otitis media and auditory dysfunction is significantly higher than that of the general population. It not only occurs in preschool girls, but also persists or develops after school age. Accompanied by other system diseases are risk factors for ear diseases. Clinicians should raise their awareness of TS-related ear diseases and incorporate ear health monitoring into routine diagnosis and treatment.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Deafness/etiology , Female , Humans , Middle Ear Ventilation/adverse effects , Otitis Media/complications , Otitis Media with Effusion/complications , Prospective Studies , Turner Syndrome/therapy , Young Adult
5.
Article in Chinese | WPRIM | ID: wpr-936261

ABSTRACT

Objective: To investigate whether pre-lingual deafness adult caused by inadequate auditory compensation in childhood can benefit from cochlear implants and the related influencing factors. Methods: A total of 26 prelingual deafness as experimental group [11 males and 15 females, the age of operation was (24.5±5.7) years] and 13 postlingual deafness as control group [5 males and 8 females, the age at the time of operation was (42.2±11.4) years] were recruited. Objective assessment included hearing threshold and speech recognition rate tests while wearing cochlear implants. Subjective assessment used Nijmegen Cochlear Implant Questionnaire to assess hearing-related quality of life of subjects. The changes of hearing ability in the prelingual deafness group before and after operation and the differences with the postlingual deafness group were compared, and the correlation between speech recognition ability and the age diagnosed as severe or profound deafness, the age of hearing aid invalid, and duration of wearing cochlear implant were analyzed as factor indicators. All statistical results were analyzed by SAS 9.4 software. Results: In terms of objective indicators, the speech recognition rate of pre-lingual deafness was significantly lower than that of post-lingual deafness [(35.4±28.0)% vs (80.9±8.0)%,t=7.67, P<0.001], while there was no statistical difference in hearing threshold between the two groups [(34.8±4.0) dB HL vs (33.1±3.7) dB HL, t=1.30, P>0.05]. The indicators in the subjective questionnaire showed that the prelingual deafness group was only weaker in advanced sound perception, confidence and total mean score than the post-lingual deafness group (P<0.05), and there was no significant difference in other aspects(P>0.05), meanwhile, all indicators of the prelingual deafness group were significantly improved compared with the preoperative level (P<0.001). There was a moderate positive correlation between the hearing quality and the speech recognition rate in the prelingual deafness group(r=0.51, P=0.008). The regression analysis showed that the invalid age of hearing aid was the exact influencing factor of speech recognition rate. Conclusions: Certain prelingual deaf adults can adapt to cochlear implants and obtain different degrees of auditory assistance. Compared with the improvement of objective auditory ability assessment, the patient who received cochlear implantation gain more improvement in auditory related quality of life subjectively. The ineffective age of preoperative hearing aid is an important factor, which needs to be aroused sufficient preoperative attention.


Subject(s)
Adolescent , Adult , Cochlear Implantation/methods , Cochlear Implants , Deafness/rehabilitation , Female , Humans , Male , Quality of Life , Speech Perception , Young Adult
6.
Article in Chinese | WPRIM | ID: wpr-936214

ABSTRACT

Objective: To analyze the clinical phenotype and screen the genetic mutations of hereditary deafness in three deaf families to clarify their molecular biology etiology. Methods: From January 2019 to January 2020, three deaf children and family members were collected for medical history, physical examination, audiology evaluation, electrocardiogram and cardiac color Doppler ultrasound, temporal bone CT examination, and peripheral blood DNA was obtained for high-throughput sequencing of deafness genes. Sanger sequencing was performed to verify the variant sites among family members. The pathogenicity of the variants was evaluated according to the American College of Medical Genetics and Genomics. Results: The probands in the three families had deafness phenotypes. In family 1, proband had multiple lentigines, special facial features, growth retardation, pectus carinatum, abnormal skin elasticity, cryptorchidism and other manifestations. In family 2, proband had special facial features, growth retardation and abnormal heart, and the proband in family 3 had growth retardation and abnormal electrocardiogram. Genetic testing of three families detected three heterozygous mutations in the PTPN11 gene: c.1391G>C (p.Gly464Ala), c.1510A>G (p.Met504Val), c.1502G>A (p.Arg501Lys). All three sites were missense mutations, and the mutation sites were highly conserved among multiple homologous species. Based on clinical manifestations and genetic test results, proband 1 was diagnosed with multiple lentigines Noonan syndrome, and probands 2 and 3 were diagnosed with Noonan syndrome. Conclusion: Missense mutations in the PTPN11 gene may be the cause of the disease in the three deaf families. This study enriches the clinical phenotype and mutation spectrum of the PTPN11 gene in the Chinese population.


Subject(s)
Deafness/genetics , Genetic Testing , Hearing Loss/genetics , Humans , Male , Mutation , Phenotype , Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics
7.
Article in Chinese | WPRIM | ID: wpr-935817

ABSTRACT

Objective: To learn about the noise exposure and health status of workers and analyze factors that may affect the health outcomes of workers in an auto manufacturing enterprise in Tianjin City. Methods: In September 2020, occupational hygiene survey, noise exposure level detection and occupational health examination data collection were carried out in an auto parts manufacturing enterprise. Chi square test and unconditional logistic regression analysis were used to analyze the health effects of noise exposure and hearing loss of 361 noise exposure workers. Results: The rates of over-standard noise exposure, hearing loss and hypertension were 69.39% (34/49) , 33.24% (120/361) and 11.36% (41/361) , respectively. There were upward trends on age and noise-working years for hearing loss and hypertension rates (χ(2)=-5.95, -6.16, -2.81, -2.74, P<0.05) . Unconditional logistic regression analysis showed that age>35 years old, noise exposure length of service >10 years and noise L(EX, 8 h)>85 dB (A) were risk factors for hearing loss (OR=3.57, 95%CI: 1.09, 11.75; OR=4.05, 95%CI: 1.97, 8.25; OR=1.75, 95%CI: 1.00, 3.05; P=0.036, 0.001, 0.047) . Conclusion: This company has a high rate of job noise exceeding the standard, and noise-exposed workers have more serious hearing loss. Age, noise exposure and high noise exposure are risk factors for hearing loss.


Subject(s)
Adult , Automobiles , Deafness , Hearing Loss, Noise-Induced/etiology , Humans , Hypertension/complications , Noise, Occupational/adverse effects , Occupational Diseases/complications , Occupational Exposure/analysis
8.
Article in Chinese | WPRIM | ID: wpr-935795

ABSTRACT

Objective: To analyze the incidence characteristics of occupational diseases in Guangzhou from 2010 to 2020, provide scientific basis for formulating occupational disease prevention and control policies. Methods: In January 2021, based on the data of occupational diseases in Guangzhou reported in the Information Monitoring System of Occupational Diseases and Occupational Health, descriptive epidemiological method was used to analyze the types and characteristics of occupational diseases in Guangzhou from 2010 to 2020. Results: A total of 1341 cases of 38 kinds of occupational diseases in 9 categories were reported in the past 11 years. The incidence of occupational pneumoconiosis, occupational otolaryngology and oral diseases and occupational chemical poisoning ranked the top three, accounting for 38.1% (511/1341) , 30.5% (409/1341) and 16.2% (217/1341) of the total cases respectively. The cases of pneumoconiosis in welders and silicosis accounted for 47.7% (244/511) and 34.4% (176/511) of the cases of occupational pneumoconiosis respectively. The cases of noise deafness accounted for 99.8% (408/409) of occupational otorhinolaryngology oral diseases. Acute occupational chemical poisoning cases accounted for 26.7% (58/217) of the occupational chemical poisoning cases, in which dichloroethane poisoning cases ranked the first, accounting for 79.3% (46/58) . Chronic occupational chemical poisoning cases accounted for 73.3% (159/217) of the occupational poisoning cases, in which benzene and lead poisoning cases ranked the top two, accounting for 79.2% (126/159) and 17.6% (28/159) respectively. Conclusion: Pneumoconiosis, silicosis, noise deafness, benzene poisoning, lead poisoning, dichloroethane poisoning should be supervised and managed as key occupational diseases in Guangzhou.


Subject(s)
Benzene , China/epidemiology , Deafness , Ethylene Dichlorides , Humans , Incidence , Lead Poisoning , Occupational Diseases/epidemiology , Pneumoconiosis/epidemiology , Silicosis
9.
São Paulo; s.n; 2022. 74 p. ilus, tab.
Thesis in Portuguese | LILACS, Inca | ID: biblio-1377506

ABSTRACT

INTRODUÇÃO: o câncer vem se tornando a principal doença crônica não transmissível mundial, estimando-se 625 mil casos entre 2020 e 2022. Na região Nordeste do Brasil, a estimativa para 2020 foi acima de 69.140 mil casos no sexo masculino e 67.070 mil no sexo feminino. Em Pernambuco, foram 11.590 casos e 10.940, respectivamente, em homens e mulheres, destes os mais frequentes são o câncer de próstata (2.630) e de mama (2.390). Muitos vídeos sobre o câncer postados nas redes sociais são elaborados por usuários leigos, podendo comprometer a credibilidade das informações ou não terem acessibilidade (legenda, áudio descritivo e tradução em Língua Brasileira de Sinais). OBJETIVOS: desenvolver vídeos educativos para prevenção de câncer de mama e próstata, destinados a pessoas surdas, com tradução em LIBRAS, e avaliar sua aceitabilidade. MATERIAL E MÉTODOS: estudo piloto de intervenção educativa, quase-experimental, realizado em seis etapas: construção do conteúdo do vídeo; validação do conteúdo por juízes conforme técnica Delphi; criação dos vídeos com áudio, legenda e tradução no VLibras; desenvolvimento do aplicativo "Saúde em Libras"; disponibilização do aplicativo na Google Play Store e YouTube; e divulgação e avaliação pelos surdos. Para a validação do conteúdo, recrutaram-se 11 enfermeiros oncologistas com expertise em câncer de mama e próstata. O Modelo de Aceitação Tecnológica contendo os construtos facilidade de uso percebida, utilidade percebida e intenção de uso foi aplicado em 19 surdos alfabetizados na última etapa. A análise estatística dos instrumentos de coleta utilizou o Alpha de Cronbach. RESULTADOS: foram necessárias duas rodadas para a validação do conteúdo dos vídeos segundo a técnica Delphi. Para o câncer de mama, quatro juízes foram incluídos (Alfa=0,73) e sete juízes (Alfa=0,87) para câncer de próstata. Os vídeos foram desenvolvidos paralelamente à criação do aplicativo "Saúde em Libras" e disponibilizados para os 19 surdos recrutados nas redes sociais. O instrumento de coleta de dados continha 17 perguntas fechadas e 3 abertas, obtendo coeficiente 0,93 de alfa. O aplicativo e o vídeos evidenciaram boa aceitabilidade, tendo o maior índice de respostas positivas os seguintes construtos: Utilidade Percebida, "apresenta informações úteis sobre câncer de mama" (79%); Facilidade de uso percebida, "é simples compreender o menu de navegação das telas" (74%); e Intenção de Uso, "Pretendo utilizar este aplicativo para buscar informações sobre câncer de próstata e de mama" (74%). As perguntas abertas evidenciaram que o Avatar atual não tem boa expressão facial, dificultando, assim, o entendimento das palavras, além de vocabulário em saúde sem regionalismo, e houve apontamentos sobre a falta de acessibilidade para surdocego. CONCLUSÃO: este estudo disponibiliza uma intervenção educativa em vídeos com tradução em Libras sobre a prevenção do câncer de mama e próstata, direcionado para surdos, com evidências de aceitabilidade para divulgação e ensino dos surdos via aplicativo. O aplicativo desenvolvido contribuirá como recurso didático e tecnológico e estratégia para formação de profissionais e promoção da saúde, podendo ainda contribuir na disseminação das boas práticas na construção de outros aplicativos.


INTRODUCTION: cancer has become the main non-communicable chronic disease in the world, with 625 thousand cases estimated between 2020 and 2022. In the Northeast region of Brazil, the estimate for 2020 was above 69,140 cases in males and 67,070 in females. In Pernambuco, there were 11,590 cases and 10,940, respectively, in men and women, and the most frequent types are prostate cancer (2,630) and breast cancer (2,390). Many videos about cancer posted on social networks are made by lay users, which may compromise the credibility of the information, and they may present accessibility problems (lack of subtitles, descriptive audios, translation into Brazilian Sign Language). PURPOSE: to develop educational videos for the prevention of breast and prostate cancer aimed at deaf people, translated into LIBRAS, and to assess their acceptability. MATERIAL AND METHODS: pilot study of an educational intervention with a quasi-experimental method carried out in six stages: construction of the content of the video; content validation by judges according to the Delphi technique; creation of videos with audio, subtitles and translation in the VLibras; development of the "Health in Libras" application; provision of the application on the Google Play Store and YouTube; and dissemination and assessment by the deaf people. For content validation, 11 oncologist nurses with expertise in breast and prostate cancer were recruited. The Technological Acceptance Model containing the constructs perceived ease of use, perceived usefulness, and intention to use was applied to 19 literate deaf people in the last stage. The statistical analysis of the collection instruments used Cronbach's Alpha. RESULTS: two rounds were needed to validate the content of the videos using the Delphi technique. Four judges were included for breast cancer (Alpha=0.73) and seven for prostate cancer (Alpha=0.87). The videos were developed concomitantly with the creation of the "Health in Libras" application and made available to the 19 deaf people recruited on social networks. The data collection instrument contained 17 closed and 3 open questions, obtaining an alpha coefficient of 0.93. The application and the videos had good acceptability, with the highest rate of positive responses for the following constructs: Perceived Usefulness, "it presents useful information about breast cancer" (79%); Perceived ease of use, "the screen navigation menu is simple to understand" (74%); and Intention to Use, "I intend to use this application to search for information about prostate and breast cancer" (74%). The open questions showed that the current Avatar does not have good facial expression, thus making it difficult to understand the words, in addition to health vocabulary without regionalisms, and there were notes about the lack of accessibility for deaf-blind people. CONCLUSION: this study provides an educational intervention in videos with translation into Libras on the prevention of breast and prostate cancer aimed at deaf people. There was evidence of acceptability for dissemination and teaching of the deaf people via the application. The developed application will contribute as a didactic and technological resource and a strategy for the training of professionals and for health promotion and it may also contribute to the dissemination of good practices in the construction of other applications.


Subject(s)
Prostatic Neoplasms , Sign Language , Breast Neoplasms , Multimedia , Deafness , Disease Prevention , Mobile Applications
10.
Rev. Investig. Innov. Cienc. Salud ; 4(1): 43-61, 2022. tab, ilus
Article in Spanish | LILACS, COLNAL | ID: biblio-1391370

ABSTRACT

Introducción. Las sorderas o hipoacusias prelinguales son de etiología genética entre el 60 y el 68% de los casos; de estos, del 20 al 40% son malformaciones del oído interno. De los casos de hipoacusia no sindrómica ligada al X se han descrito siete tipos. De las malformaciones de oído interno, la partición coclear incompleta tipo III es la menos frecuente.Objetivo. Presentar el reporte clínico-genético de una familia mexicana, con indi-viduos varones afectados por sordera neurosensorial congénita con malformación de oído interno. Material y Métodos. Se realizó estudio de una familia en la que nueve miembros presentaban sordera. Se estudiaron cuatro de ellos y una madre sin manifestaciones, a través del estudio clínico general por médico genetista, el estudio audiológico (otos-copía y audiometría) por médico audiólogo y el estudio de tomografía computada (TC) por médico radiólogo.Resultados. Los pacientes estudiados presentaron sordera neurosensorial congéni-ta, de severa a profunda bilateral. A través de la TC, se evidenció malformación de oído interno. Tres pacientes presentaron partición coclear incompleta tipo III y un paciente partición incompleta tipo I. Debido al estudio clínico y al árbol genealógico, se definió diagnóstico de hipoacusia neurosensorial no sindrómica ligada al X. La TC de la madre sin manifestaciones no presentó evidencia de malformaciones en oído interno (MOI).Conclusión. El estudio de imagen es fundamental para definir presencia o no de MOI en todos los pacientes con hipoacusia y así poder guiar la terapéutica y el aseso-ramiento genético, así como realizar los estudios moleculares más adecuados


Introduction. The pre-lingual deafness or hearing loss are of genetic cause in be-tween 60% and 68% of cases, among these, between 20% and 40% are malforma-tion of the inner ear. From the non-syndromic hearing loss cases that are linked to the X chromosome, seven types have been described. Among these inner ear malforma-tions, incomplete cochlear partition type III is the less frequent.Objective. Present the clinical genetical report of a Mexican family, with male in-dividuals affected by congenital neurosensory deafness with inner ear malformation.Materials and methodology. A study on a family in which nine members were affected by deafness was done. Four of them, plus a mother without manifestation, were studied through a general clinical study by a geneticist, an audiological study (otoscopy and audiometry) by an audiologist, and a computed tomography (CT) scan by a radiologist.Results. The studied patients presented congenital neurosensory deafness, from se-vere to deep bilateral. Via the CT, the inner ear malformation was made clear. Three of the patients presented incomplete cochlear partition type III and one patient in-complete cochlear partition type I. Due to the clinical study and the family tree, it was diagnosed non-syndromic neurosensory deafness linked to X. The CT of the mother without manifestation did not show evidence of inner ear malformations.Conclusion. The study by image is fundamental to define whether there is or not a presence of inner ear malformations in any patient with heading loss to be able to guide the therapeutics and the genetic counseling, as well as to make more accurate molecular studies


Subject(s)
Humans , Congenital Abnormalities , Deafness , Hearing Loss , Hearing Loss, Sensorineural , Ear, Inner , Patients , Polysorbates , Audiometry , X Chromosome , Audiologists , Genetics
11.
Braz. j. oral sci ; 20: e214270, jan.-dez. 2021. tab
Article in English | LILACS, BBO | ID: biblio-1254738

ABSTRACT

There are various instruments to measure attitudes toward persons with disabilities (PwD). The Multidimensional Attitudes Scale (MAS) toward PwD is a three-dimension scale with good psychometric properties; the Spanish version has been validated with a four-factor structure. Aim: To examine the factor structure of a cross-cultural adapted version of the Spanish MAS towards deaf persons in a sample of Chilean dental students. Methods: This cross-sectional study involved five Chilean public health experts that reviewed the scale for obtaining a preliminary version of a 30-item modified MAS towards deaf persons; a pilot with 15 dental students was performed, and a final sample composed of 311 students was included. For the exploratory factor analysis (EFA), maximum likelihood estimation (ML) for determining the number of factors and parallel analysis (PA) was used, with Oblimin for the rotation method. Cronbach's alpha was used to assess reliability. The root mean square error of approximation (RMSEA), comparative fit index (CFI), incremental fit index (IFI), goodness of fit index (GFI), Tucker-Lewis fit index (TLI-NNF) and root mean square of residuals (RMSR) were used to assess model fit. Results: All items had a normal distribution with the exception of items 7 and 10. The four-factor structure without item 10 in this EFA presented an adequate Cronbach's alpha (>0.83), suggesting acceptable reliability. RMSEA, TLI-NNFI, RMSR, GFI and CFI indices suggested a good fit of the model and were consistent with the literature. Conclusion: The Spanish modified version of the MAS towards deaf persons has a four-factor structure, which in consistent with a previous version of the MAS


Subject(s)
Humans , Male , Female , Students, Dental , Attitude , Hispanic or Latino , Chile , Deafness , Validation Studies as Topic
12.
Braz. j. otorhinolaryngol. (Impr.) ; 87(4): 379-388, July-Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1285718

ABSTRACT

Abstract Introduction The hair cells of the cochlea and the vestibulum are closely connected and may be susceptible to the same noxious factors. The relationship between their function has been a continuing field of investigation. The indications for cochlear implantation have been broadened and now include the patients with partial deafness. This raises the question of their vestibular status. Objective The aim of the study was to investigate whether there is any difference between the vestibular function of patients with low frequency residual hearing and those with totally deaf ears. Methods A total of 360 ears with profound sensorineural hearing loss were analysed before cochlear implantation. The patients were divided into four groups, according to their low frequency residual hearing (Group 1 ‒ normal or slightly elevated low frequency residual hearing; Group 2 ‒ elevated threshold but still usable hearing at low frequencies; Group 3 - non-functional residual hearing; Group 4 ‒ no detectable hearing threshold within the limits of the audiometer). The patients underwent vestibular tests: cervical vestibular evoked myogenic potential, ocular vestibular evoked myogenic potential, caloric test and video-head impulse test. Results The rates of elicited responses in cervical vestibular evoked myogenic potential were as follows: in Group 1 (59.3 %); Group 2 (57.5 %); Group 3 (35.2 %); Group 4 (7.7 %). For ocular vestibular evoked myogenic potential the percentage of correct outcomes was: Group 1 (70.8 %); Group 2 (56.0 %); Group 3 (40.0 %); Group 4 (14.3 %). For the caloric test we counted normal responses in 88.9 % of Group 1; 81.6 % of Group 2; 57.9 % of Group 3; 53.3 % of Group 4. For video-head impulse test we also found markedly better results in Group1, followed by Group 2, and much worse in Group 3 and 4. Conclusion Patients with partial deafness not only have a better cochlea but also better vestibular function, which needs to be protected. In summary, the better the low frequency residual hearing, the better the vestibular status.


Resumo Introdução As células ciliadas da cóclea e do vestíbulo estão intimamente ligadas e podem ser suscetíveis aos mesmos fatores nocivos. A relação entre suas funções tem sido um campo de investigação há muito tempo. As indicações para implante coclear foram ampliadas e agora incluem os pacientes com surdez parcial. Isso levanta a questão de sua condição vestibular. Objetivo Investigar se existe alguma diferença entre a função vestibular de pacientes com audição residual de baixa frequência e aqueles com surdez total. Método Foram analisadas antes do implante coclear 360 orelhas com perda auditiva neurossensorial profunda. Os pacientes foram divididos em quatro grupos, de acordo com a audição residual de baixa frequência (Grupo 1 - audição residual de baixa frequência normal ou levemente elevada; Grupo 2 - limiar auditivo elevado, mas ainda usável em baixas frequências; Grupo 3 - audição residual não funcional; Grupo 4 - sem limiar auditivo detectável dentro dos limites do audiômetro). Os pacientes foram submetidos a testes vestibulares: potencial evocado miogênico vestibular cervical, potencial evocado miogênico vestibular ocular, prova calórica e teste do impulso cefálico com vídeo. Resultados As taxas de respostas obtidas no potencial evocado miogênico vestibular cervical foram as seguintes: no Grupo 1 (59,3%); Grupo 2 (57,5%); Grupo 3 (35,2%); Grupo 4 (7,7%). Para o potencial evocado miogênico vestibular ocular, o percentual de resultados corretos foi: Grupo 1 (70,8%); Grupo 2 (56,0%); Grupo 3 (40,0%); Grupo 4 (14,3%). Para a prova calórica, contamos respostas normais em 88,9% do Grupo 1; 81,6% do grupo 2; 57,9% do Grupo 3; 53,3% do Grupo 4. Para o teste do impulso cefálico com vídeo, também encontramos resultados significativamente melhores no Grupo 1, seguidos pelo Grupo 2, e muito piores nos Grupos 3 e 4. Conclusão Pacientes com surdez parcial não só apresentam uma função coclear melhor, mas também melhor função vestibular, que precisa ser protegida. Em resumo, quanto melhor for a audição residual de baixa frequência, melhor a condição vestibular.


Subject(s)
Humans , Vestibule, Labyrinth , Deafness , Vestibular Evoked Myogenic Potentials , Caloric Tests , Head Impulse Test
13.
Rev. psicol. (Fortaleza, Online) ; 12(2): 56-74, 20210701.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1293321

ABSTRACT

A fala é um dos principais instrumentos de psicoterapia. Isso representa um obstáculo para o tratamento de pacientes surdos congênitos que não utilizam a língua oral. Aqui objetivamos analisar processos de construção psíquica em pacientes surdos usuários da língua de sinais, sua relação com a modalidade linguística e indicar possíveis considerações para a psicoterapia com essa população. Realizamos um estudo de caso múltiplo por meio de um programa de psicoterapia, planejado para atender três sujeitos surdos congênitos da comunidade surda de São José do Rio Preto-SP, selecionados por sorteio, de cadastro clínico particular. O programa foi estruturado em 26 sessões, desenvolvidas por psicanalista versado na língua brasileira de sinais. As sessões ocorreram em caráter individual e sistemático, visando observar os padrões no desenvolvimento dos processos mentais, realizadas uma vez por semana, com duração de 50 minutos. Para a análise de dados utilizamos os Mapas e as Árvores de Associação de Spink (2010). Os resultados indicam que diferenças no sistema semiótico da linguagem em surdos congênitos determinam adaptações no desenvolvimento psíquico desses pacientes em razão da natureza da língua de sinais. Conclui-se que o tratamento psicoterápico para surdos deve acontecer em seu sistema semiótico próprio, sua organização simbólica e sua cultura


Speech is one of the main tools of psychotherapy. This represent an obstacle to the treatment of congenital deaf patients who do not use the oral language. Here we aim to analyze processes of psychic construction in deaf patients who use sign language, its relationship with the linguistic modality and indicate possible considerations for psychotherapy whit this population. We carried out a mutiple case study through a psychotherapy program, planned to attend three congenital deaf subjects fron the deal community of São José do Rio Preto ­SP, selected by lot, from a private clinical record. The program was structured in 26 sessions, developed by a psychoanalyst versed in the Brazilian Sign Language. The sessions tool place an individual and systematic basis, aiming to observe the patterns in the development of mental processes, held once a week, lasting 50 minutes. For data analysis we used Spink's Association Maps and Trees (2010). The results indicate that differences in the semiotic system of language in congenital deaf people determine adaptations in the psychic development of these patients due the psychotherapeutic treatment for deaf people must take place in their own semiotic system, symbolic organization and culture


Subject(s)
Psychotherapy , Sign Language , Deafness
14.
Biomédica (Bogotá) ; 41(2): 282-292, abr.-jun. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1339267

ABSTRACT

Resumen | Introducción. Las aneuploidías son trastornos genéticos frecuentes en la práctica clínica; sin embargo, se conoce poco sobre las otras variantes genéticas que modifican el fenotipo final. Objetivo. Determinar las variantes en el número de copias y las regiones con pérdida de heterocigosidad autosómica mayor de 0,5 % o de regiones mayores de 10 Mb en neonatos con aneuploidías autosómicas. Materiales y métodos. Se hizo el análisis cromosómico por micromatrices a los neonatos con aneuploidías autosómicas (n=7), trisomía 21 (n=5) y trisomía 18 (n=2) evaluados en los hospitales Antonio Lorena y Regional de Cusco, Perú, en el 2018. Resultados. En dos neonatos se encontraron variantes en el número de copias, patogénicas o probablemente patogénicas, en regiones diferentes al cromosoma 21 o al 18. Además, se observaron dos variantes del número de copias con más de 500 kpb de patogenia desconocida. Conclusiones. Si bien el número de pacientes era muy reducido, es importante resaltar que se encontraron otras variantes en el número de copias que se han descrito asociadas con trastornos del neurodesarrollo, varias anomalías congénitas, hipoacusia y talla baja o alta, entre otras, lo que probablemente influye negativamente en el fenotipo de este grupo de pacientes.


Abstract | Introduction: Aneuploidies are frequent genetic disorders in clinical practice. However, little is known about other genetic variants that may influence the final phenotype. Objective: To determine the variations in the number of copies and regions with homozygosity greater than 0.5% or larger than 10 Mb in newborns with autosomal aneuploidies. Materials and methods: We performed a chromosomal microarray analysis on newborns with autosomal aneuploidies (n=7), trisomy 21 (n=5), and trisomy 18 (n=2) evaluated at the Hospital Antonio Lorena and Hospital Regional of Cusco, Perú, during 2018. Results: We found pathogenic and probably pathogenic variants in the number of copies in other genomic regions different to chromosomes 21 or 18 in two neonates. Additionally, we found two variants bigger than 500 kpb of unknown pathogenicity. Conclusions: Although the number of analyzed individuals was small, it is important to highlight that we found other variants in the number of copies that have been described in association with neurodevelopmental disorders, congenital anomalies, deafness, and short/ tall stature, among others, in almost half of them, which will probably impact the phenotype negatively in patients with aneuploidies.


Subject(s)
DNA Copy Number Variations , Aneuploidy , Infant, Newborn , Deafness , Neurodevelopmental Disorders
15.
Braz. j. otorhinolaryngol. (Impr.) ; 87(3): 353-365, May-Jun. 2021. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-1285686

ABSTRACT

Abstract Introduction Tinnitus is a frequent symptom in cochlear implant patients, often reported as persistent and disabling in implant candidates. Tinnitus is rarely considered in the preoperative evaluation of patients who are eligible for cochlear implantation. Many studies have shown that a cochlear implant leads to a significant change in the perception of tinnitus. Objective To identify evidence in the scientific literature indicating that cochlear implant in eligible patients with tinnitus can improve tinnitus perception. Methods One hundred forty articles were found from nine databases, and 20 articles from the gray literature mentioned the relationship between cochlear implant and tinnitus perception in patients eligible for cochlear implant. The PICOS (population, intervention, comparison, and outcome) strategy, was used to define the eligibility criteria. The studies that met the inclusion criteria for this second step were included in a qualitative synthesis, and each type of study was analyzed using the Joanna Briggs Institute critical appraisal checklist for quasi-experimental studies and the Joanna Briggs Institute critical appraisal checklist for randomized clinical trials. Results The full texts of 11 articles were read, and 6 studies were selected for the meta-analysis. The total sample size in the evaluated articles was 136 patients with tinnitus who were eligible for cochlear implantation. Conclusions Taken together, these findings support the feasibility of cochlear implantation to reduce the perception of tinnitus, thus providing a new perspective in the treatment of tinnitus in patients with hearing loss who are candidates for cochlear implantation.


Resumo Introdução Zumbido é um sintoma frequente em pacientes com implante coclear, comumente relatado como persistente e incapacitante em candidatos ao procedimento. Entretanto, o zumbido raramente é considerado na avaliação pré-operatória de pacientes elegíveis para o implante coclear. Muitos estudos têm demonstrado que o implante coclear leva a uma mudança significativa na percepção do zumbido. Objetivo Identificar evidências na literatura científica que indiquem que o implante coclear em pacientes com zumbido pode melhorar a percepção. Método Foram encontrados 140 artigos em nove bases de dados e 20 artigos da literatura cinzenta mencionaram a relação entre o implante coclear e a percepção do zumbido em pacientes elegíveis para o procedimento. A estratégia PICOS (população, intervenção, comparação e desfecho) foi usada para definir os critérios de elegibilidade. Os estudos que atenderam aos critérios de inclusão para esta segunda etapa foram incluídos em uma síntese qualitativa e cada tipo de estudo foi analisado com a critical appraisal checklist for quasi-experimental studies e a critical appraisal checklist for randomized clinical trials do Joanna Briggs Institute. Resultados Foram lidos os textos completos de 11 artigos e selecionados 6 estudos para a metanálise. O tamanho total da amostra dos artigos avaliados foi de 136 pacientes com zumbido, elegíveis para o implante coclear. Conclusões Em conjunto, esses achados apoiam a viabilidade do implante coclear para reduzir a percepção do zumbido, proporcionam uma nova perspectiva no tratamento do zumbido em pacientes com deficiência auditiva candidatos a esse procedimento.


Subject(s)
Humans , Speech Perception , Tinnitus/surgery , Cochlear Implants , Cochlear Implantation , Deafness/surgery , Hearing Loss/surgery , Randomized Controlled Trials as Topic , Treatment Outcome
16.
Braz. j. otorhinolaryngol. (Impr.) ; 87(2): 164-170, mar.-abr. 2021. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-1249360

ABSTRACT

Resumo Introdução: Uma das principais implicações da deficiência auditiva é a dificuldade na percepção dos sons da fala, sobretudo em ambientes ruidosos. Dessa forma, o sistema de frequência modulada é considerado uma importante ferramenta educacional para crianças com deficiência auditiva, pois promove a melhoria da percepção da fala em ambientes acusticamente desfavoráveis, como em sala de aula. Entre o protocolo de verificação desse dispositivo é indicada a avaliação da percepção da fala no ruído. Objetivo: Verificar a efetividade do teste de percepção da fala no ruído Phrases in Noise Test Brasil em crianças com deficiência auditiva adaptadas com o sistema frequência modulada. Método: Estudo de corte transversal. A amostra incluiu 40 indivíduos, dos 4 anos até os 11 anos e 11 meses, distribuídos em 4 grupos: (1) 10 crianças normo-ouvintes; (2) 13 crianças adaptadas com aparelho de amplificação sonora individual e com sistema frequência modulada; (3) 12 crianças usuárias de implante coclear e adaptadas com sistema de frequência modulada; e (4) 5 crianças com diagnóstico de desordem do espectro da neuropatia auditiva, adaptadas com aparelho de amplificação sonora individual e/ou implante coclear e com sistema de frequência modulada. Foi usado o Phrases in Noise Test Brasil para avaliar a percepção da fala no ruído nas condições sem e com o sistema frequência modulada. Para a análise estatística dos dados foi adotado nível de significância de 5% (p < 0,05). Resultados: Obteve-se uma diferença significativa entre os grupos quando avaliados com o sistema frequência modulada. O teste também foi validado por meio das medidas de validação concorrente e convergente. O Phrases in Noise Test Brasil é uma opção viável para o acompanhamento do desempenho auditivo no ruído em diferentes grupos de crianças com deficiência auditiva. Conclusão: O Phrases in Noise Test Brasil foi efetivo para avaliar a percepção de fala no ruído e pode contribuir para o aprimoramento dos protocolos de indicação, adaptação e acompanhamento do uso do sistema frequência modulada.


Subject(s)
Humans , Infant , Child, Preschool , Child , Speech Perception , Cochlear Implants , Deafness , Hearing Aids , Hearing Loss , Brazil , Cross-Sectional Studies , Noise
18.
Article in Chinese | WPRIM | ID: wpr-879601

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL).@*METHODS@#Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.@*CONCLUSION@#Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.


Subject(s)
Deafness/genetics , Hearing Loss, Sensorineural/genetics , Heterozygote , Humans , Microfilament Proteins/genetics , Mutation , Pedigree , Whole Exome Sequencing
19.
Article in Chinese | WPRIM | ID: wpr-879518

ABSTRACT

OBJECTIVE@#To explore the genetic basis of four Chinese families affected with deafness.@*METHODS@#All probands were subjected to next generation sequencing (NGS). Suspected variant were verified by Sanger sequencing among the family members. Prenatal diagnosis was provided for three couples through Sanger sequencing.@*RESULTS@#All probands were found to carry pathogenic variants of the TMC1 gene, which included c.100C>T (p.R34X) and c.642+4A>C in family 1, c.582G>A (p.W194X) and c.589G>A (p.G197R) in family 2, c.1396_1398delAAC and c.1571T>C (p.F524S) in family 3, and homozygosity of c.2050G>C (p.D684H) in family 4. All parents were heterozygous carriers of the variants. The c.642+4A>C and c.1571T>C (p.F524S) were unreported previously. Prenatal diagnosis revealed that none of the fetuses were affected. Follow-up confirmed that all newborns had normal hearing.@*CONCLUSION@#Variant of the TMC1 gene probably underlay the deafness in the four families. Above findings have enhanced our understanding of the function of the TMC1 gene and enriched its variant spectrum. The results also facilitated genetic counseling and prenatal diagnosis for the families.


Subject(s)
China , Deafness/genetics , Female , Genetic Variation , Humans , Infant, Newborn , Male , Membrane Proteins/genetics , Mutation , Pedigree , Pregnancy , Prenatal Diagnosis
20.
Article in Chinese | WPRIM | ID: wpr-879517

ABSTRACT

OBJECTIVE@#To analyze the results of concurrent hearing and deafness genetic screening and follow up of newborns.@*METHODS@#In total 33 911 babies born to 5 designated hospitals in Nanshan District of Shenzhen city from October 2017 to December 2019 were included. All subjects underwent concurrent hearing and deafness genetic screening covering 21 variants of 4 genes including GJB2, SLC26A4, GJB3 and Mt12SrRNA. For those with positive results, Sanger sequencing was carried out for confirmation.@*RESULTS@#93.32% subjects passed the first-round hearing screening, and 87.01% passed the recheck testing. The overall detection rate was 4.18%. The detection rates for GJB2, SLC26A4, GJB3 and Mt12srRNA variants were 1.98%, 1.58%, 0.37% and 0.25%, respectively. 126 and 84 subjects were found with high risk for delayed-onset and drug-induced hearing loss, respectively. In addition, 4 and 5 subjects were found to harbor homozygous/compound heterozygous variants of the GJB2 and SLC26A4 genes, respectively. Concurrent screening showed that subjects (with heterozygous variants) who did not passed the two round hearing test were as follows: GJB2 with 6.75% in the first round and 2.61% in the second round testing, SLC26A4 (3.3%/1.2%), GJB3 (0.72%/0.14%) and 12SrRNA (0.36%/Nil), respectively. Moreover, the No-pass rate in the subjects with homozygous or compound variants in single gene, heterozygous variant in single gene, heterozygous variant in multiple genes, and homozygous variant in GJB3 gene were significantly higher than the subjects with negative results of genetic screening.@*CONCLUSION@#Concurrent newborn genetic screening can enhance the effectiveness of hearing screening and enable earlier identification and intervention for children with hearing impairment. Follow-up can improve the diagnostic rate for children who are positive for the concurrent screening. Nevertheless, genetic and hearing screening cannot replace the diagnostic testing. It is necessary to conduct comprehensive analysis for the results of genetic and hearing screening and radiological examinations. Sanger sequencing and next-generation sequencing are critical for ascertain the diagnosis.


Subject(s)
China/epidemiology , DNA Mutational Analysis , Deafness/genetics , Follow-Up Studies , Genes/genetics , Genetic Testing/statistics & numerical data , Hearing/genetics , Hearing Tests/statistics & numerical data , Humans , Infant, Newborn , Mutation , Neonatal Screening
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