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1.
J Pak Med Assoc ; 74(3): 476-479, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38591281

RESUMO

Objectives: To analyse the demographic and clinical variables in children having undergone cochlear implant surgery because of deafness. METHODS: The cross-sectional study was conducted from January to November 2022 at the Centre for Research in Experimental and Applied Medicine laboratory of the Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, Pakistan, in collaboration with the Ear, Nose and Throat Department of Combined Military Hospital, Rawalpindi, and comprised children of eith gender aged up to 10 years who had received cochlear implant. Data was collected through questionnaire-based detailed interviews. Syndromic Hearing Loss, Non-Syndromic Hearing Loss, and Acquired Hearing Loss were identified among the subjects. Data was analysed using SPSS 22. RESULTS: Of the 250 cases, 147(58.8%) were boys, 146(58.4%) were aged 0-5 years, 219(87.6%) had prelingual onset of disease, and 202(80.8%) had a non-progressive disease course. In 203(81.2%) cases, normal developmental milestones were seen. Parental consanguinity was observed in 219(87.6%) cases. However, 63(25.2%) patients had a first-degree relative who had a history of deafness. In 170(68%) cases, hearing loss was hereditary, whereas in 80(32%) it was acquired. Meningitis was the most commonly identified risk factor 55(68.75%). Acquired risk factors and family history had significant association with hearing loss (p<0.05). Speech perception significantly improved in all 219(100%) patients with prelingual hearing loss who underwent cochlear implantation. CONCLUSIONS: Majority of the cases were found to be male, had a prelingual disease onset and a non-progressive disease course. Family history was a significant factor, while meningitis was the most common acquired cause of hearing loss.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Meningite , Criança , Humanos , Masculino , Feminino , Implantes Cocleares/efeitos adversos , Implante Coclear/efeitos adversos , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/cirurgia , Perda Auditiva Neurossensorial/etiologia , Estudos Transversais , Perda Auditiva/epidemiologia , Perda Auditiva/complicações , Surdez/epidemiologia , Surdez/cirurgia , Meningite/complicações , Demografia
2.
Medicine (Baltimore) ; 101(2): e28464, 2022 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-35029190

RESUMO

ABSTRACT: There is a dearth of literature on health outcomes for Black people who identify as deaf or hard of hearing (DHH). Black DHH individuals generally experience at least 2 types of oppression, racism and audism, both of which contribute to health disparities within the Black and Deaf communities.To understand the prevalence of health outcomes in a Black DHH adult sample and compare this to a Black hearing sample.A descriptive cross-sectional study with primary Health Information National Trends Survey (HINTS)- American Sign Language survey data from Black DHH adults and secondary National Cancer Institute-HINTS English survey data from Black hearing adults.Black DHH adults and Black hearing adults (18 years or older).Using NCI's health information national trends survey in American Sign Language and English, self-reported data was gathered for all medical conditions as diagnosed by healthcare providers.The study showed that Black DHH adults had a higher likelihood for diabetes, hypertension, lung disease, cancer, and comorbidity compared to their hearing Black counterparts.Black DHH adults are at disparity for certain medical conditions compared to the general Black adult population. Future directions are needed to ensure that anti-racist policies include consideration of people with sensory disabilities. Inclusion of cultural and language needs of Black DHH patients in cultural humility training for healthcare providers is recommended to address health disparity in this population.


Assuntos
Surdez , Disparidades nos Níveis de Saúde , Perda Auditiva , Pessoas com Deficiência Auditiva , Adulto , Negro ou Afro-Americano , Estudos Transversais , Surdez/epidemiologia , Surdez/etnologia , Audição , Perda Auditiva/epidemiologia , Perda Auditiva/etnologia , Humanos , Estados Unidos/epidemiologia
3.
Int Tinnitus J ; 25(1): 18-22, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33944531

RESUMO

INTRODUCTION: Cochlear implantation has been mentioned as the most effective therapeutic intervention in deaf patients and especially those with post-lingual deafness. We aimed to assess hearing improvement of post-lingually deaf patients after cochlear implantation. MATERIALS AND METHODS: in this cross-sectional study all the post-lingually deaf patients who had undergone cochlear implantation (CI) surgery between December 2010 and February 2016 were assessed. Patients were recalled and after explaining the study process and signing an informed consent form, an audiometry was done by a single audiologist. In addition, demographic information, cause of hearing loss, age of onset, history of hearing aid use and surgical complications were recorded in a pre-designed checklist. RESULTS: Twenty-nine male and 21 female with a mean age of 22.52±19.45 years underwent analysis. Most of patients (80%) had progressed condition since childhood. Sudden sensorineural hearing loss (SSNHL) was the most prevalent (10%) known etiology of deafness followed by meningitis (6%), Trauma (2%) and ototoxic drugs (2%) in the remaining 20% of the patients. Patients had the highest mean (37.1±12.61 dB) in 4000 Hz frequency and the lowest mean of hearing threshold level (32.6±8.37 dB) was for 1000 Hz frequency. Mean hearing threshold level was significantly lower in patients with lower ages of cochlear implantation (p=0.435). Patients with higher ages of deafness onset showed lower degree of hearing improvement (p=0.462). CONCLUSION: The results of our study suggest that cochlear implantation significantly improves hearing function of post-lingual patients and can be considered as a certain cure for these patients in Iran.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Perda Auditiva Neurossensorial , Percepção da Fala , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Surdez/epidemiologia , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Masculino , Resultado do Tratamento , Adulto Jovem
4.
World Neurosurg ; 151: e94-e99, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33819711

RESUMO

OBJECTIVE: Microvascular decompression (MVD) is the most effective treatment for hemifacial spasm (HFS). However, surgical difficulties due to complex anatomy or revision surgery can endanger the functional integrity of the brainstem. We describe surgically challenging cases and provide operative guidance that may be helpful for neurosurgeons who perform MVDs. METHODS: Of 3028 patients with HFS who underwent MVDs consecutively by a single neurosurgeon, complex or unusual cases associated with surgical difficulty were selected. Medical charts and images were reviewed, with the primary focus being intraoperative findings, operative techniques, and clinical outcomes. All MVDs were performed using the interposition method. RESULTS: Surgically difficult cases were categorized into six types: tandem, perforator, atypical location, encircling, revision, and penetrating types. During the follow-up period (11.5-42.7 months; median 24.9 months), the spasm-free rate was 88.4%. Intraoperative changes in brainstem auditory evoked potentials were observed in 31.5% of patients. Immediate postoperative facial palsy and deafness were observed in 6.0% and 1.5% of patients, respectively. Revision surgery showed the highest surgical morbidity among the unusual HFS types. Detailed illustrations and descriptions of MVD in patients with surgically challenging HFS are provided. CONCLUSIONS: Complex or unusual HFS types carry higher surgical risks in MVD. Neurosurgeons performing MVDs need to be prepared to manage complex HFS cases in order to achieve favorable clinical outcomes.


Assuntos
Espasmo Hemifacial/diagnóstico por imagem , Cirurgia de Descompressão Microvascular/métodos , Adulto , Idoso , Competência Clínica , Surdez/epidemiologia , Surdez/etiologia , Potenciais Evocados Auditivos do Tronco Encefálico , Paralisia Facial/epidemiologia , Paralisia Facial/etiologia , Seguimentos , Humanos , Monitorização Neurofisiológica Intraoperatória , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Resultado do Tratamento
5.
Otol Neurotol ; 42(3): 408-413, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33351564

RESUMO

OBJECTIVE: To characterize failure rate and etiology after cochlear implantation; to identify predictors and describe outcomes after implant failure. STUDY DESIGN: Retrospective chart review and systematic review of the literature using PubMed and Embase. SETTING: Academic Cochlear Implant Center. SUBJECT POPULATION: Four hundred ninety-eight devices in 439 distinct adult patients. INTERVENTIONS: Unilateral or bilateral cochlear implantation. MAIN OUTCOME MEASURES: Implant failure rate and etiology. RESULTS: A total of 32 devices (5.9%) failed in 31 patients encompassing the following failure types in accordance with the European Consensus Statement of Cochlear Implants: 17 device failures (53.1%), 11 failures due to performance decrement/adverse reactions (34.4%), and 4 medical reasons (12.9%). There was no significant difference in age, sex, or manufacturer between patients with and without failures. Twenty-five percent of patients with failure leading to explantation had childhood onset of deafness compared to 12.1% of patients with adult-onset hearing loss (OR = 2.42; p = 0.04). Performance decrement/adverse reaction patients had an older average age at implantation compared to device failure patients (mean 68.5 yr 95% CI: 59.9-77.1 vs mean 47.6 yr, CI: 39.9-55.3, p < 0.01). There was no significant difference in time to failure, sex, or device manufacturer between the different types of failures. Twenty-nine patients who experienced CI failure underwent a revision surgery, while the remaining two opted for explantation without reimplantation. One patient who underwent revision surgery subsequently presented with a second failure and underwent a second revision, which was successful.In our systematic review, 815 citations were reviewed, and 9 studies were selected for inclusion. Overall failure rate across all studies was 5.5%. Device failure was the leading cause of failure in the majority (6/9) of studies, accounting for 40.8% of all failures. Medical reasons were the second leading cause at 33.6%, followed by performance decrement/adverse reaction (20.9%) and other (4.8%). CONCLUSIONS: Cochlear implant failure is a rare phenomenon. Childhood-onset of hearing loss appears to be associated with an increased risk of overall failure. Older patients are at increased risk for performance decrement/adverse reaction. Revision surgery success rates remain very high and patients with failure of any cause should be offered explantation with concurrent reimplantation.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Adulto , Criança , Surdez/epidemiologia , Surdez/etiologia , Surdez/cirurgia , Humanos , Falha de Prótese , Reoperação , Estudos Retrospectivos
6.
Mol Biol Rep ; 47(12): 9979-9985, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33269433

RESUMO

Autosomal recessive nonsyndromic hearing loss (DFNB) is relatively frequent in Pakistan, which is thought to be mainly due to relatively frequent consanguinity. DFNB genes vary widely in their kinds and functions making molecular diagnosis difficult. This study determined the genetic causes in five Pakistani DFNB families with prelingual onset. The familial genetic analysis identified four pathogenic or likely pathogenic homozygous mutations by whole exome sequencing: two splicing donor site mutations of c.787+1G>A in ESRRB (DFNB35) and c.637+1G>T in CABP2 (DFNB93) and two missense mutations of c.7814A>G (p.Asn2605Ser) in CDH23 (DFNB12) and c.242G>A (p.Arg81His) in TMIE (DFNB6). The ESRRB and TMIE mutations were novel, and the TMIE mutation was observed in two families. The two missense mutations were located at well conserved sites and in silico analysis predicted their pathogenicity. This study identified four homozygous mutations as the underlying cause of DFNB including two novel mutations. This study will be helpful for the exact molecular diagnosis and treatment of deafness patients.


Assuntos
Caderinas/genética , Proteínas de Ligação ao Cálcio/genética , Surdez/genética , Perda Auditiva Neurossensorial/genética , Proteínas de Membrana/genética , Receptores de Estrogênio/genética , Adolescente , Adulto , Proteínas Relacionadas a Caderinas , Criança , Pré-Escolar , Consanguinidade , Surdez/epidemiologia , Feminino , Perda Auditiva Neurossensorial/epidemiologia , Homozigoto , Humanos , Masculino , Mutação de Sentido Incorreto , Paquistão/epidemiologia
7.
Rev. enferm. UERJ ; 28: e52265, jan.-dez. 2020.
Artigo em Inglês, Português | LILACS, BDENF | ID: biblio-1146352

RESUMO

Objetivo: verificar a influência da comunicação dos pais no recebimento de informações e comportamento de saúde de filhos surdos. Método: estudo transversal realizado com 110 pessoas surdas, selecionadas com a técnica snowball sampling, em municípios no Noroeste do estado do Paraná. Os dados foram coletados de fevereiro a agosto de 2019, mediante aplicação de instrumento estruturado. Na análise dos dados utilizou-se a estatística descritiva e inferencial. Resultados: a maioria dos surdos (95,4%) recebeu alguma orientação de saúde no núcleo familiar; ser orientado sobre a importância de consultas de rotina mostrou-se associado à realização da mesma pelos filhos no último ano (OR= 3,40). O pai que sabe se comunicar em Libras constituiu fator de proteção, pois, nestes casos, ocorreram mais orientações sobre o uso de drogas e consumo abusivo de açúcar. Conclusão: a habilidade comunicacional dos pais possibilita que eles realizem mais orientações relacionadas à saúde e isto influencia o comportamento em saúde de filhos surdos.


Objective: to ascertain the influence of parents' communication on deaf children's reception of health information, and health behavior. Method: in this cross-sectional study of 110 deaf people selected by snowball sampling in municipalities in northwest Paraná state, data were collected from February to August 2019 using a structured instrument. Descriptive and inferential statistics were used in the data analysis. Results: most deaf people (95.4%) received some health guidance in the family; being guided about the importance of routine appointments was found to be associated with the children's attending such appointments in the prior year (OR = 3.40). The parent able to communicate in Libras was a protective factor, because in these cases, more guidance on drug use and sugar abuse occurred. Conclusion: the parents' communication skills enabled them to provide more health-related guidance, and this influenced their deaf children's health behavior.


Objetivo: determinar la influencia de la comunicación de los padres en la recepción de la información sanitaria y el comportamiento sanitario de los niños sordos. Método: en este estudio transversal de 110 personas sordas seleccionadas por muestreo de bola de nieve en municipios del noroeste del estado de Paraná, los datos se recolectaron de febrero a agosto de 2019 mediante un instrumento estructurado. Se utilizó estadística descriptiva e inferencial en el análisis de datos. Resultados: la mayoría de las personas sordas (95,4%) recibió alguna orientación sanitaria en la familia; Se descubrió que el hecho de recibir orientación sobre la importancia de las citas de rutina estaba asociado con la asistencia de los niños a dichas citas el año anterior (OR = 3,40). El padre capaz de comunicarse en Libra fue un factor de protección, porque en estos casos, hubo más orientación sobre el uso de drogas y el abuso de azúcar. Conclusión: las habilidades de comunicación de los padres les permitieron brindar más orientación relacionada con la salud, y esto influyó en el comportamiento de salud de sus hijos sordos.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Relações Pais-Filho , Comportamentos Relacionados com a Saúde , Comunicação , Surdez/epidemiologia , Língua de Sinais , Brasil/epidemiologia , Estudos Transversais , Leitura Labial
9.
ORL J Otorhinolaryngol Relat Spec ; 82(4): 209-215, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32594084

RESUMO

INTRODUCTION: Tinnitus is prevalent in 66-88% of cochlear implant users. The reason for this high prevalence is that hearing impairment is the most common cause of tinnitus. OBJECTIVE: This study aims to determine the effect of cochlear implant and to compare the severity of tinnitus and depression in adult cochlear implant users with tinnitus. METHODS: Patients diagnosed with tinnitus filled out the Tinnitus Handicap Inventory and the Beck Depression Inventory during CI candidate evaluation. The audiological follow-up in the present study included only patients suffering from tinnitus before the cochlear implant surgery. This study included only patients who had tinnitus handicap inventory and Beck Depression Inventory clinical records pre- and postoperatively, including 23 adult cochlear implant users (13 males and 10 females) aged 18-76 years. RESULTS AND CONCLUSION: There was a statistically significant decrease in the severity of tinnitus and depression after cochlear implant. As the participants' tinnitus level and grade decreased, their depression levels also decreased. Depression levels decreased after the use of a cochlear implant compared to before cochlear implantation. Cochlear implantation is currently used only for hearing restoration. However, cochlear implantation may be used in rehabilitation for tinnitus in patients with severe hearing loss and in tinnitus patients. In addition cochlear implantation can be a depression rehabilitation method by reducing tinnitus.


Assuntos
Implante Coclear/métodos , Implantes Cocleares , Surdez/reabilitação , Perda Auditiva Neurossensorial/cirurgia , Zumbido/epidemiologia , Adulto , Idoso , Implante Coclear/efeitos adversos , Surdez/epidemiologia , Depressão/epidemiologia , Depressão/etiologia , Feminino , Perda Auditiva Neurossensorial/complicações , Testes Auditivos , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto Jovem
11.
Int J Mol Sci ; 21(7)2020 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-32235586

RESUMO

A previous study indicated that mutations in the transmembrane protease serine 3 (TMPRSS3) gene, which encodes a transmembrane serine protease, cause nonsyndromic hearing loss (NSHL). This was the first description of a serine protease involved in hearing loss (HL). In Taiwan, however, data on the TMPRSS3 gene's association with NSHL is still insufficient. In this study, we described 10 mutations of TMPRSS3 genes found in 14 patients after screening 230 children with NSHL. The prevalence of the TMPRSS3 mutation appeared to be 6.09% (14/230). Of the 10 mutations, three were missense mutations: c.239G>A (p.R80H), c.551T>C (p.L184S), and 1253C>T (p.A418V); three were silent mutations, and four were mutations in introns. To determine the functional importance of TMPRSS3 mutations, we constructed plasmids carrying TMPRSS3 mutations of p.R80H, p.L184S, and p.A418V. TMPRSS3 function can be examined by secretory genetic assay for site-specific proteolysis (sGASP) and Xenopus oocyte expression system. Our results showed that p.R80H, p.L184S, and p.A418V TMPRSS3 mutations gave ratios of 19.4%, 13.2%, and 27.6%, respectively, via the sGASP system. Moreover, these three TMPRSS3 mutations failed to activate the epithelial sodium channel (ENaC) in the Xenopus oocyte expression system. These results indicate that the p.R80H, p.L184S, and p.A418V missense mutations of TMPRSS3 resulted in greatly diminishing the proteolytic activity of TMPRSS3. Our study provides information for understanding the importance of TMPRSS3 in the NSHL of Taiwanese children and provides a novel molecular explanation for the role of TMPRSS3 in HL.


Assuntos
Surdez/genética , Proteínas de Membrana/genética , Mutação , Proteínas de Neoplasias/genética , Serina Endopeptidases/genética , Adolescente , Adulto , Animais , Criança , Surdez/epidemiologia , Humanos , Íntrons , Mutação de Sentido Incorreto , Mutação Puntual , Taiwan/epidemiologia , Xenopus , Adulto Jovem
12.
Acta Med Port ; 32(12): 767-775, 2019 Dec 02.
Artigo em Português | MEDLINE | ID: mdl-31851886

RESUMO

INTRODUCTION: Congenital deafness or early acquired deafness affects 1 to 3 out of 1000 newborns without risk factors and 20 to 40 out of 1000 newborns with risk factors. The universal newborn hearing screening enables its early identification. Children with congenital deafness/early acquired deafness have a higher prevalence of other conditions, especially ophthalmologic and neurodevelopmental ones, and at least 30% to 40% have at least one associated comorbidity. MATERIAL AND METHODS: We carried out a cross-sectional, multicenter study in which 83% (n = 30) of the hospitals/maternity hospitals of the National Health Service participated. RESULTS: All surveyed hospitals/maternity hospitals routinely performed universal newborn hearing screening to all newborns before discharge; 63% referred children with risk factors for hearing loss to Otorhinolaryngology. All children with congenital deafness/early acquired deafness are referred to: Pediatrics in 23% hospitals/maternity hospitals. In 23 hospitals/maternity hospitals, all children with congenital deafness/early acquired deafness are referred to: Speech Therapy in 44% hospitals/ maternity hospitals; Ophthalmology in 17% hospitals/maternity hospitals; National System of Early Intervention in Childhood in 30% hospitals/maternity hospitals; 22% of hospitals/maternity hospitals refer all children with congenital deafness/early acquired deafness, with no identified cause, to Clinical Genetics clinics. The number of diagnoses of deafness in the years 2014 and 2015 was 2.5 and 1.5 per 1000 newborns, respectively, in 15 hospitals/maternity hospitals. DISCUSSION: Awareness of universal newborn hearing screening seems to be widely spread in the National Health Service. The number of children with SC / SPA, as well as the percentage of different types of deafness diagnosed, were identical to those found in other studies and shows its importance. The assessment / follow-up of these children by specialties other than the otolaryngology was heterogeneous in different health entities and revealed that not all children with risk factors for deafness follow up advised by existing standards. CONCLUSION: Results show that Portugal made an important path in the screening and follow-up of children with SC / SPA. It is important, with the ultimate aim of continually improving the care of these children, to reflect on the involvement of specialties other than otolaryngology, such as the National Early Childhood Intervention System in the follow-up of these children.


Introdução: A surdez congénita ou precocemente adquirida afeta 1 a 3 por cada 1000 recém-nascidos sem fatores de risco e 20 a 40/1000 com fatores de risco. O rastreio auditivo neonatal universal permite a sua identificação precoce. As crianças com surdez congénita/precocemente adquirida têm uma maior prevalência de outras patologias, especialmente oftalmológicas e do neurodesenvolvimento, tendo pelo menos 30% a 40% uma comorbilidade associada.Material e Métodos: Realizámos um estudo transversal, multicêntrico onde participaram 83% (n = 30) dos hospitais/maternidades do Serviço Nacional de Saúde.Resultados: Todos os hospitais/maternidades inquiridos realizam, por rotina, o rastreio auditivo neonatal universal a todos os recém-nascidos antes da alta; 63% encaminham para Otorrinolaringologia crianças com fatores de risco de surdez. Todas as crianças com surdez congénita/precocemente adquirida são encaminhadas para Pediatria em 23% hospitais/maternidades. Em 23 hospitais/maternidades todas as crianças com surdez congénita/precocemente adquirida são encaminhadas para: Terapia da Fala em 44% hospitais/maternidades; Oftalmologia em 17% hospitais/maternidades; Sistema Nacional de Intervenção Precoce na Infância (SNIPI) em 30% hospitais/maternidades; referenciação para Genética de todas as crianças com surdez congénita/ precocemente adquirida, sem causa identificada, em 22% hospitais/maternidades. O número de diagnósticos de surdez nos anos de 2014 e 2015 foi de 2,5 e 1,5 por cada1000 recém-nascidos, respetivamente, em 15 dos  hospitais/maternidades.Discussão: O rastreio auditivo neonatal universal parece estar amplamente difundido no Serviço Nacional de Saúde. O número de crianças com SC/SPA tal como a percentagem dos diferentes tipos de surdez diagnosticados, foram idênticos aos encontrados noutros estudos e mostra a indiscutível importância do rastreio. A avaliação/acompanhamento destas crianças por outras especialidades, além da Otorrinolaringologia, mostrou-se heterogéneo nas diferentes entidades de saúde e revelou que nem todas as crianças com fatores de risco de surdez realizam o seguimento aconselhado pelas normas existentes.Conclusão: Os resultados mostram que Portugal realizou um percurso importante no âmbito do rastreio e seguimento das crianças com SC/SPA. Importa, com o fim último da melhoria continua da prestação de cuidados a estas crianças, refletir sobre o envolvimento de outras especialidades, além da Otorrinolaringologia, tal como do Sistema Nacional de Intervenção Precoce na Infância no seguimento destas crianças.


Assuntos
Surdez/diagnóstico , Perda Auditiva/congênito , Perda Auditiva/diagnóstico , Estudos Transversais , Surdez/epidemiologia , Surdez/etiologia , Intervenção Médica Precoce , Seguimentos , Serviços em Genética/estatística & dados numéricos , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Perda Auditiva/epidemiologia , Maternidades/estatística & dados numéricos , Humanos , Recém-Nascido , Triagem Neonatal , Oftalmologia/estatística & dados numéricos , Otolaringologia/estatística & dados numéricos , Pediatria/estatística & dados numéricos , Portugal/epidemiologia , Encaminhamento e Consulta/estatística & dados numéricos , Fatores de Risco
13.
Genes (Basel) ; 10(10)2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31581539

RESUMO

Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families. We also analyzed the clinical features associated with specific genetic mutations. Our results demonstrated that next-generation sequencing-based examination strategies could achieve genetic diagnosis in approximately half of the families. Common deafness-associated genes in the Taiwanese patients assessed, in the order of prevalence, included GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. However, the Taiwanese patients had some unique mutations in these genes. These findings may have important clinical implications for refining molecular diagnostics, facilitating genetic counseling, and enabling precision medicine for the management of HHI.


Assuntos
Conexinas/genética , Perda Auditiva/genética , Miosinas/genética , Povo Asiático/genética , Estudos de Coortes , Conexina 26 , Conexinas/metabolismo , Surdez/epidemiologia , Surdez/genética , Feminino , Testes Genéticos , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Perda Auditiva Neurossensorial/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Proteínas de Membrana/genética , Mutação , Miosinas/metabolismo , Transportadores de Sulfato/genética , Taiwan/epidemiologia
14.
Acta Otolaryngol ; 139(7): 612-617, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31107121

RESUMO

Background: Although, half of the childhood deafness is genetically related, the molecular etiology of hearing impairment has not been demonstrated explicitly. In addition, the mutation spectrums of deafness genes vary among different areas and ethnics. Objectives: To know more about the mutation spectrums of deafness genes in China, we tested the mutations of three common deafness genes (GJB2, SLC26A4, and mtDNA12SrRNA) in a particular deafness population from Heze area. Materials and methods: SNPscan technology was utilized to perform mutation screening for these three common deafness genes in 314 nonsyndromic deaf patients from Heze area. Results: 38.21% (120/314) of these 314 patients with nonsyndromic hearing loss from Heze area were related to the genetic defects in these three deafness genes, including 20.06% (63/314) for GJB2, 15.29% (48/314) for SLC26A4, and 2.87% (9/314) for mtDNA12SrRNA. Furthermore, the mutation hotspots in three deaf genes were GJB2 235delC, SLC26A4 c.919-2A > G, and mtDNA12SrRNA 1555A > G, respectively, distinct from hotspots reported in other regions worldwide. Conclusion: Our results disclosed a special and unique mutation spectrum of these three common deaf genes in Heze deaf population.


Assuntos
Surdez/epidemiologia , Surdez/genética , Testes Genéticos/métodos , Proteínas de Membrana Transportadoras/genética , Mutação/genética , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , China/epidemiologia , Análise Mutacional de DNA , DNA Mitocondrial/genética , Surdez/diagnóstico , Feminino , Genótipo , Humanos , Incidência , Masculino , Programas de Rastreamento/métodos , RNA Ribossômico/genética , Medição de Risco , Distribuição por Sexo , Adulto Jovem
15.
Artigo em Chinês | MEDLINE | ID: mdl-30776863

RESUMO

Objective: To investigate the hearing loss and speech disorders in the elderly, to analyze the risk factors of the elderly deafness, as well as to provide reference for the clinical research of the elderly deafness. Methods: From March 2016 to March 2018, 913 elderly people, who were tested for hearing and speech disorders, were examined by a unified questionnaire to investigate the demographic data of the subjects and the related factors of deafness, and the hearing and speech recognition tests were carried out. According to the hearing loss, the hearing impaired group was divided into the hearing impaired group (500, 1 000, 2 000 and 4 000 Hz, the average hearing threshold>25 dBHL) and the non hearing impaired group (the average hearing threshold of the four frequencies ≤25 dBHL), and then the single factor analysis and the unconditional Logistic regression analysis were used. Finally, the risk factors of senile deafness were analyzed. Results: Of the 913 elderly subjects in the survey, 389 (42.61%, 389/913) had no hearing impaired, 345 (37.79%, 345/913) were mild hearing impaired, and 149 (16.32%, 149/913) had moderate hearing loss. Twenty-six patients were severe hearing loss (2.85%, 26/913); 4 patients had severe hearing loss (0.44%, 4/913). Among the 524 hearing-impaired elderly, there were 244 speech-recognition disorders (46.56%, 244/524), of whom 106 were mild hearing-impaired, accounting for 30.72% (106/345), 108 were moderate hearing loss, accounting for 72.48% (108/149), 26 were severe hearing loss, accounting for 100% (26/26), and 4 were the profound hearing loss, accounting for 100% (4/4). Statistical analysis showed that the age, job status, history of hypertension, history of hyperglycemia, and smoking history were independent risk factors for senile hearing loss (P<0.05). Conclusions: High incidences of hearing and speech recognition obstacle are found in health examination for the elderly patients. Noise exposure, age, history of hypertension, high blood sugar, and smoking history are high-risk factors for senile deafness, therefore, prevention and rehabilitation programs are urgent to be developed.


Assuntos
Limiar Auditivo/fisiologia , Surdez/diagnóstico , Distúrbios da Fala/diagnóstico , Percepção da Fala/fisiologia , Idoso , Surdez/epidemiologia , Surdez/fisiopatologia , Humanos , Análise de Regressão , Fatores de Risco , Testes de Discriminação da Fala , Distúrbios da Fala/epidemiologia , Distúrbios da Fala/fisiopatologia
16.
Eur Arch Otorhinolaryngol ; 276(4): 945-956, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30737583

RESUMO

BACKGROUND: Worldwide approximately 360 million people suffer from hearing impairment, 328 million of whom are adults. Up to now there has been no systematic evaluation of any representative epidemiological data on the prevalence of hearing loss among adults in Germany. The present paper is intended to investigate this within the framework of a systematic review. METHODS: A systematic literature search was carried out in electronic databases as well as by means of hand-searching. Studies published after 1975 and indicating the prevalence or incidence of hearing impairment among German adults were included. Study selection, data extraction and additional quality assessments were made by two independent reviewers. RESULTS: By means of a systematic literature search it was possible to identify 6 sources, which provided solely cross-sectional data, whereby the reported data are based on a study population of between some hundred and 10 million people living in Germany. The prevalences ascertained showed a broad range of between 16% and 25% and varied according to age, study setting, definition of hearing loss and method of data capture. At present there are no utilizable data on the extent of the use of hearing aids. DISCUSSION: The present review demonstrates clearly that evidence-based information relating to Germany can only be made on the basis of a clear definition of hearing loss within the framework of an up-to-date and representative epidemiological study carried out with appropriate methodology. In view of the high prevalence of illnesses causing hearing impairment and of the risks to health associated with untreated hearing impairment as well as of socio-economic costs, such an epidemiological study is of great social significance.


Assuntos
Auxiliares de Audição/estatística & dados numéricos , Perda Auditiva/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Surdez/epidemiologia , Feminino , Alemanha/epidemiologia , Perda Auditiva/reabilitação , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência
17.
Curr Opin Otolaryngol Head Neck Surg ; 26(3): 196-199, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29697411

RESUMO

PURPOSE OF REVIEW: The overall prevalence of deafness in India is 0.2%, but the prevalence in the southern state of Tamil Nadu is much higher (around 0.6%) because of consanguinity. Especially in India, establishing cochlear implantation as a treatment modality for hearing loss has been a daunting task, but in the last decade, the cochlear implantation program has emerged as an unqualified success in many states, with over 20 000 cochlear implantations done till date. Several states are sponsoring free implants to children under the age of 6 years and below poverty line. RECENT FINDINGS: Nearly 3000 cochlear implantations have been performed in Tamil Nadu under the Chief Minister's Comprehensive Health Insurance Scheme, with the goal to have a 'deafness free Tamil Nadu' by 2025. This scheme covers nearly 40 million people in rural areas. Valuable lessons have been learnt from this social experiment. One of the cornerstones of this scheme is the method to deliver habilitation via satellite centers in rural areas at the doorstep of the patient. The outcomes in peripheral centers were found to be statistically similar to those in the main center and correlated well with duration of habilitation. SUMMARY: Opening up satellite centers for habilitation across the state of Tamil Nadu has greatly helped to improve the attendance and outcomes. The Indian model has been hugely successful and has helped start similar cochlear implantation programs in neighboring countries such as Nepal, Sri Lanka and Bangladesh.


Assuntos
Implante Coclear , Surdez/cirurgia , Países em Desenvolvimento/economia , Implante Coclear/estatística & dados numéricos , Implantes Cocleares/economia , Implantes Cocleares/estatística & dados numéricos , Surdez/economia , Surdez/epidemiologia , Surdez/reabilitação , Países em Desenvolvimento/estatística & dados numéricos , Humanos , Índia/epidemiologia , Modelos Econômicos
18.
BMC Cancer ; 18(1): 93, 2018 01 23.
Artigo em Inglês | MEDLINE | ID: mdl-29361910

RESUMO

BACKGROUND: Deaf people represent 0.1% of the French population and their access to public health campaigns is limited due to their frequent illiteracy and the infrequent use of sign language in campaigns. There is also a lack of general health knowledge in spite of the existence of French Deaf Care Units (UASS). The aim of this study is to assess the average diagnostic stage of cancer in the Deaf Community and discuss deafness as a contributing factor. METHODS: Four thousand three hundred sixty-three Deaf patients recorded in five UASS, 80 diagnosed between 2005/01/01 and 2014/12/31 were selected from medical records and/or ICD-10 coding. Data regarding cancers were extracted, grouped by stage and compared to literature. Statistical significance was tested with Fisher's Exact Test. RESULTS: Eighty patients were selected. Most cancers were diagnosed at advanced stages: of 11 prostate cancers, 46% were locally advanced and 18% were metastatic. (In the general population, this was respectively 3% and 10.4% (p < 0.01)). Of six colorectal cancers, 67% were diagnosed at stage III and 33% at stage IV. (Respectively 20.6% and 26.6% (p = 0.03) in the general population). In contrast, of the 15 breast cancers, 93% were diagnosed at stages T1-T3 that was earlier than in the general population (p = 0.43). CONCLUSION: In this study, we observed a delay cancer diagnosis among Deaf people. Complicated and/or non-systematic screening procedures for cancers would be involved. Which is most likely the result of many factors (communication, medical knowledge). Increasing UASS coverage and health information campaigns in sign language could assist in earlier cancer diagnosis.


Assuntos
Surdez/epidemiologia , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Pessoas com Deficiência Auditiva , Adulto , Idoso , Comunicação , Surdez/complicações , Surdez/fisiopatologia , Detecção Precoce de Câncer , Feminino , França/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Metástase Neoplásica , Estadiamento de Neoplasias , Neoplasias/fisiopatologia , Língua de Sinais
19.
Acta Otorhinolaryngol Ital ; 38(1): 56-60, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29187758

RESUMO

The most frequent sequelae following a translabyrinthine approach for vestibular schwannoma resection is complete hearing loss on the affected side. Such patients could benefit from a cochlear implant, provided that two essential requisites are met before surgery: a preserved cochlear nerve and a patent cochlea to accommodate the electrode array. The goal of our study is to determine the prevalence and extent of cochlear ossification following a translabyrinthine approach. Postoperative MRI of 41 patients were retrospectively reviewed. Patients were classified according to the degree of cochlear obliteration into three groups (patent cochlea, partially obliterated cochlea and totally obliterated cochlea). The interval between surgery and the first MRI was studied as well as its relationship with the rate of cochlear ossification. At first postoperative MRI (mean interval of 20 months), 78% of patients showed some degree of cochlear ossification. Differences were found in the time interval between surgery and first MRI for each group, showing a smaller interval of time the patent cochlea group (p > 0.05). When MRI was performed before the first year after surgery, a larger rate of patent cochlea was found (p > 0.05). The present study suggests that cochlear ossification is a time-depending process, whose grounds are still to be defined.


Assuntos
Doenças Cocleares/cirurgia , Implante Coclear , Surdez/cirurgia , Complicações Pós-Operatórias/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Cocleares/diagnóstico por imagem , Doenças Cocleares/epidemiologia , Doenças Cocleares/etiologia , Surdez/diagnóstico por imagem , Surdez/epidemiologia , Surdez/etiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neuroma Acústico/cirurgia , Procedimentos Cirúrgicos Otológicos/efeitos adversos , Procedimentos Cirúrgicos Otológicos/métodos , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Prevalência , Estudos Retrospectivos
20.
Laryngorhinootologie ; 96(S 01): S84-S102, 2017 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-28499296

RESUMO

Combined hearing loss is an essential indication for implantable hearing systems. Depending on the bone conduction threshold, various options are available: Patients with mild sensorineural deafness usually benefit from transcutaneous BCI, while percutaneous BCI systems are recommended also for moderate hearing loss. For combined hearing loss with moderate and high-grade cochlear hearing loss, active middle ear implants are recommended. For patients with incompatibilities or middle ear surgery, implants are a valuable and proven addition to the therapeutic options.


Assuntos
Implantes Cocleares , Surdez/reabilitação , Prótese Ossicular , Condução Óssea/fisiologia , Estudos Transversais , Surdez/epidemiologia , Alemanha , Humanos , Desenho de Prótese
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