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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 269-276, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128743

RESUMO

Genetic factors are a common cause for non-syndromic hearing loss (NSHL). Along with the development and maturity of molecular techniques, genetic diagnosis and counseling is increasingly affecting the clinical practice of NSHL. Newborn hearing screening has facilitated early detection of affected children, whilst genetic screening has enabled identification of the cause of NSHL, and genetic diagnosis and consultation can promote early intervention of deafness. So far 110 pathogenic genes of NSHL have been discovered, though there are still many challenges lying in its clinical identification. The development of genetic counseling and prenatal diagnosis has put forward greater requirements for genetic testing and data interpretation. This guideline has summarized the incidence, mutational spectrum, inheritance mode, pathogenesis, clinical manifestation, genotype - phenotype correlation, genetic testing, treatment and intervention, as well as risk assessment for NSHL, with an aim to provide a reference for genetic consultants, clinical otologists and professionals engaged in genetic testing.


Assuntos
Surdez/diagnóstico , Surdez/genética , Surdez/terapia , Guias de Prática Clínica como Assunto , Feminino , Aconselhamento Genético , Testes Genéticos , Humanos , Mutação , Gravidez , Diagnóstico Pré-Natal , Medição de Risco
2.
Medicine (Baltimore) ; 98(50): e18253, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852093

RESUMO

RATIONALE: Molecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL. PATIENT CONCERNS: A propositus was diagnosed as ARNSHL with bilateral congenital profound hearing loss. DIAGNOSIS: With microarray and target gene sequencing testing methods, a novel GJB2 mutant was found to be associated with ARNSHL in this Han Chinese family. INTERVENTIONS/OUTCOMES: Based on the finding in this research, prenatal screening of GJB2 mutation and genetic counseling are recommended to this family for their next pregnancy. Our interventions allow the family to plan informatively. LESSONS: In this family, we discovered 2 heterozygous carriers of c.113T>C variation in the GJB2 gene. The propositus, who had profound hearing loss, had inherited the c.113T>C variation from his normal mother and the c.235delC from his father.


Assuntos
Conexinas/genética , DNA/genética , Surdez/genética , Grupos Étnicos , Mutação , Adulto , China/epidemiologia , Conexinas/metabolismo , Análise Mutacional de DNA , Surdez/diagnóstico , Surdez/etnologia , Feminino , Humanos , Lactente , Masculino , Emissões Otoacústicas Espontâneas/fisiologia , Linhagem , Prevalência
4.
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.


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 Serviços de 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
5.
Rev Med Suisse ; 15(665): 1740-1745, 2019 Oct 02.
Artigo em Francês | MEDLINE | ID: mdl-31580017

RESUMO

The majority of early hearing disorders are of genetic origin. In view of the genetic heterogeneity, high-throughput sequencing analysis of a panel of genes involved in hearing loss is the most effective and economical approach, providing a diagnostic yield of around 40 % today. The determination of a molecular diagnosis makes it possible to: i) adapt the audiological care; ii) to search for possible somatic problems associated with so-called syndromic hearing loss; (iii) to avoid unnecessary additional examinations in isolated hearing loss; (iv) to establish accurate genetic counseling for relatives, or even to provide early diagnosis; and (v) to lay the foundation for potential future molecular hearing loss therapies in selected cases.


Assuntos
Perda Auditiva/genética , Criança , Surdez/diagnóstico , Surdez/genética , Surdez/terapia , Diagnóstico Precoce , Aconselhamento Genético , Perda Auditiva/diagnóstico , Perda Auditiva/terapia , Humanos , Terapia de Alvo Molecular , Síndrome
6.
J Med Case Rep ; 13(1): 313, 2019 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-31630688

RESUMO

BACKGROUND: Maternally inherited diabetes and deafness, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes are examples of mitochondrial diseases that are relatively common in the adult population. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes are assumed to be associated with decreases in arginine and citrulline. Biomarkers, such as growth differentiation factor-15, were developed to assist in the diagnosis of mitochondrial diseases. CASE PRESENTATION: A 55-year-old Japanese man, an insulin user, presented after a loss of consciousness. A laboratory test showed diabetic ketoacidosis. He and his mother had severe hearing difficulty. Bilateral lesions on magnetic resonance imaging, the presence of seizure, and an elevated ratio of lactate to pyruvate, altogether suggested a diagnosis of mitochondrial disease. Mitochondrial DNA in our patient's peripheral blood was positive with a 3243A>G mutation, which is the most frequent cause of maternally inherited diabetes and deafness, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. As a result, maternally inherited diabetes and deafness/mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes was diagnosed. We measured growth differentiation factor-15 and multiple amino acids in his blood, longitudinally during and after the stroke-like episode. Growth differentiation factor-15 was increased to an immeasurably high level on the day of the stroke-like episode. Although his diabetes improved with an increased dose of insulin, the growth differentiation factor-15 level gradually increased, suggesting that his mitochondrial insufficiency did not improve. Multiple amino acid species, including arginine, citrulline, and taurine, showed a decreased level on the day of the episode and a sharp increase the next day. In contrast, the level of aspartic acid increased to an extremely high level on the day of the episode, and decreased gradually thereafter. CONCLUSIONS: Growth differentiation factor-15 can be used not only for the diagnosis of mitochondrial disease, but as an indicator of its acute exacerbation. A stroke-like episode of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes reflects a drastic derangement of multiple amino acids. The involvement of aspartic acid in the episodes should be explored in future studies.


Assuntos
Surdez/diagnóstico , Diabetes Mellitus Tipo 2/diagnóstico , Síndrome MELAS/diagnóstico , Doenças Mitocondriais/diagnóstico , Arginina/sangue , Ácido Aspártico/sangue , Biomarcadores/sangue , DNA Mitocondrial/genética , Surdez/genética , Diabetes Mellitus Tipo 2/genética , Fator 15 de Diferenciação de Crescimento/sangue , Humanos , Síndrome MELAS/genética , Masculino , Pessoa de Meia-Idade , Doenças Mitocondriais/genética , Mutação
7.
Sante Publique ; Vol. 31(3): 427-432, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31640330

RESUMO

OBJECTIVE: To estimate the screening coverage of neonatal bilateral permanent deafness (NBPD) among neonates in the region of Paris (Île-de-France), between 2012 and 2017, using data from the Program for Medicalization of Information System (PMSI). METHOD: The study population covers hospital stays of newborns (0 to 28 days of life) in the region of Paris between 2012 and 2017. The data were extracted from PMSI database using DIAMANT system. The annual screening coverage rate is estimated by the ratio between the number of newborn stays with the code Z13.51 and one of the two specific medical procedures for NBPD screening and the number of live births recorded in health facilities. RESULTS: In 2017, 133 152 newborn stays with a Z13.51 code were counted in the Ile-de-France region, out of 178 011 live births; less than 75% of newborns. Hospital stays including a medical procedure CDQP009 or CDQP017 represent a proportion of 16.3% in 2017. The annual estimated rate of screening coverage of NBPD using the PMSI (89,8%, taking into account the different coding practices) is lower than the one calculated from data of the FPDPHE (95,5%) and national/regional target rate set by the National screening Program. CONCLUSION: Our methodology and the observed results revealed that an annual NBPD screening coverage rate could be estimated, if the National plan and coding practices requirements follow the guidelines. Harmonization of coding practices and data quality assurance are essential to be able to build an indicator of NBPD screening coverage based on routinely collected data (PMSI, SNDS), which can contribute to the monitoring of the implementation of the screening program for the neonates.


Assuntos
Surdez/diagnóstico , Triagem Neonatal , Bases de Dados Factuais , Humanos , Recém-Nascido , Sistemas de Informação , Medicalização , Paris
8.
Int J Mol Sci ; 20(18)2019 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-31527509

RESUMO

Tight junctions are cellular junctions that play a major role in the epithelial barrier function. In the inner ear, claudins, occludin, tricellulin, and angulins form the bicellular or tricellular binding of membrane proteins. In these, one type of claudin gene, CLDN14, was reported to be responsible for human hereditary hearing loss, DFNB29. Until now, nine pathogenic variants have been reported, and most phenotypic features remain unclear. In the present study, genetic screening for 68 previously reported deafness causative genes was carried out to identify CLDN14 variants in a large series of Japanese hearing loss patients, and to clarify the prevalence and clinical characteristics of DFNB29 in the Japanese population. One patient had a homozygous novel variant (c.241C>T: p.Arg81Cys) (0.04%: 1/2549). The patient showed progressive bilateral hearing loss, with post-lingual onset. Pure-tone audiograms indicated a high-frequency hearing loss type, and the deterioration gradually spread to other frequencies. The patient showed normal vestibular function. Cochlear implantation improved the patient's sound field threshold levels, but not speech discrimination scores. This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation.


Assuntos
Claudinas/genética , Surdez/diagnóstico , Surdez/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Fenótipo , Adolescente , Adulto , Idoso , Alelos , Substituição de Aminoácidos , Criança , Pré-Escolar , Claudinas/metabolismo , Surdez/metabolismo , Surdez/terapia , Feminino , Estudos de Associação Genética/métodos , Genótipo , Humanos , Lactente , Recém-Nascido , Japão , Masculino , Pessoa de Meia-Idade , Linhagem , Junções Íntimas/genética , Junções Íntimas/metabolismo , Adulto Jovem
10.
Psychiatr Danub ; 31(Suppl 3): 604-607, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488798

RESUMO

Communication is a huge difficulty in researching Deafness in psychiatry and in practically assessing and treating deaf patients. This paper aims to review the difficulties surrounding the assessment and treatment of deaf patients, using a review of the current literature on audio-visual hallucinations as an example. It will also include a summary of the published inquiry into the care and treatment of Daniel Joseph (a profoundly Deaf man), and a review of the Department of Health consultation document and NHS England responses to that inquiry as evidence of why these difficulties have relevance in everyday practice. In structuring the paper in this manner, the author hopes to review the current state of healthcare provided for Deaf individuals within psychiatry, and what still needs to be done.


Assuntos
Surdez/psicologia , Surdez/terapia , Psiquiatria , Comunicação , Surdez/diagnóstico , Inglaterra , Humanos , Masculino , Determinação de Necessidades de Cuidados de Saúde , Pesquisa
11.
Am J Otolaryngol ; 40(5): 724-728, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31277886

RESUMO

Linguistic information and cognitive rehabilitation has more related with auditory perception and verbal intelligibility. The aim of the present study was to assessment of the effectiveness of cognitive rehabilitation program on the auditory perception and verbal intelligibility of deaf children. This study was a quasi-experimental study with pre-test, post-test and control group design. Participants were 24 deaf children from Ava rehabilitation center of mother child in Isfahan city, Iran. Participants were selected by convenient sampling method. They were randomly divided into experimental and control groups, each group consisted of 12 children. The experimental group participated in the cognitive rehabilitation training program in 10 sessions for 45 min, while control group did not participate this program. The instruments of present research were Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR). The data were analyzed using multivariate analysis of covariance (MANCOVA) in 24th version of SPSS. The results of MANCOVA showed that cognitive rehabilitation program had significant effect on the auditory perception and verbal intelligibility in the experimental group at post intervention stage (P < 0/0001). There was a positive and significant increase in auditory perception and verbal intelligibility of experimental group. Our findings showed that Cognitive rehabilitation program training led to promote of auditory perception and verbal intelligibility of deaf children.


Assuntos
Percepção Auditiva/fisiologia , Terapia Cognitivo-Comportamental/organização & administração , Surdez/diagnóstico , Surdez/reabilitação , Inteligibilidade da Fala/fisiologia , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Irã (Geográfico) , Masculino , Análise Multivariada , Estudos Prospectivos , Melhoria de Qualidade , Valores de Referência , Medição de Risco , Resultado do Tratamento
12.
Artigo em Chinês | MEDLINE | ID: mdl-31163549

RESUMO

Objective: To study the correlation between the prognosis of sudden deafness and laboratory indicators, and to provide a theoretical basis for clinical evaluation of prognosis and selection of appropriate interventions.Method: A retrospective analysis of 123 cases of total deafness was conducted(all frequencies decreased with 250-8 000 Hz average hearing threshold ≥ 81 dB HL). All patients admitted to the hospital received laboratory test within 24 hours and underwent a unified treatment: alprostadil + mecobalamin + citicoline sodium phosphate + Ginkgo biloba extract + batroxobin + methylprednisolone (patients with hypertension or diabetes were given retro-auricular injection). After 2 weeks of comprehensive treatment, the pure tone audiometry was reviewed and the clinical efficacy was evaluated. According to the prognosis, the patients were divided into the healing group, the marked effective group, the effective group and the ineffective group. The laboratory indicators included: white blood cell count, neutrophil percentage, neutrophil lymphocyte ratio(NHR), erythrocyte sedimentation rate, blood lipid, red blood cell count, hemoglobin(Hb), plasma fibrinogen content(FIB). Result: There were no significant differences in white blood cell count, neutrophil percentage, NHR, erythrocyte sedimentation rate, blood lipid index and red blood cell count between different prognosis groups(all P>0.05). The differences of FIB and Hb were statistically significant(P<0.05). The overall prognosis was negatively correlated with FIB and positively correlated with Hb. Patients with vertigo had a worse prognosis and a higher plasma FIB level than those without vertigo(P<0.05), but there was no significant difference of Hb between patients with and without vertigo(P>0.05). Conclusion: FIB and Hb can be used as correlative indexes to evaluate the prognosis of patients with sudden deafness, and the effects of vertigo and other associated symptoms on the prognosis should be comprehensively analyzed. .


Assuntos
Surdez/diagnóstico , Surdez/terapia , Perda Auditiva Súbita/diagnóstico , Perda Auditiva Súbita/terapia , Audiometria de Tons Puros , Fibrinogênio/análise , Hemoglobinas/análise , Humanos , Prognóstico , Estudos Retrospectivos
13.
Hum Genet ; 138(10): 1071-1075, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31175426

RESUMO

While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with autosomal recessive nonsyndromic hearing loss. Three affected members of the family had sensorineural hearing loss (SNHL) ranging from moderate to profound in severity. The variant is predicted to cause a frameshift and produce a truncated protein (p.Leu29ArgfsTer4) in this single-exon gene. It is absent in public databases as well as in over 1000 Turkish individuals, and co-segregates with SNHL in the family. Our in vitro studies demonstrate that the mutant protein does not localize to cell membrane as demonstrated for the wild-type protein. Mice-lacking Cldn9 have been shown to develop SNHL. We conclude that CLDN9 is essential for proper audition in humans and its disruption leads to SNHL in humans.


Assuntos
Claudinas/genética , Surdez/diagnóstico , Surdez/genética , Genes Recessivos , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Claudinas/química , Claudinas/metabolismo , Biologia Computacional/métodos , Análise Mutacional de DNA , Feminino , Mutação da Fase de Leitura , Humanos , Mutação , Linhagem , Polimorfismo Genético , Transporte Proteico , Turquia , Sequenciamento Completo do Genoma
15.
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
16.
Eur Arch Otorhinolaryngol ; 276(7): 1951-1959, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31053967

RESUMO

PURPOSE: Although the cochlear implantation procedure does not interfere with vestibular structures directly, both the vestibulum and the cochlea share the same inner ear fluid space, and this fluid may be responsible for transferring possibly damaging forces from one to the other. The purpose of the study is to assess postoperative vestibular function after partial deafness treatment-electro-acoustic stimulation (PDT-EAS) cochlear implantation. METHODS: Fifty-five patients were included in the study (30 females, 25 males, age 11-80, mean 41.8 ± 19.35). cVEMP and oVEMP were performed preoperatively and 1-3 months after cochlear implantation. Caloric and vHIT tests were conducted preoperatively and 4-6 months after cochlear implantation. RESULTS: Our study shows that, based on a wide range of electrodes, use of PDT-EAS is protective in terms of preserving vestibular function. It gives a rate of saccular damage of 15.79%, utricular damage of 19.04%, and a horizontal semicircular canal response reduction of 15.79%. CONCLUSIONS: PDT-EAS is protective in terms of preserving vestibular function. Nevertheless, it should be emphasized that the risk of vestibular damage cannot be totally eliminated even when hearing preservation techniques are adopted.


Assuntos
Estimulação Acústica/métodos , Cóclea/fisiopatologia , Implante Coclear , Surdez/cirurgia , Complicações Pós-Operatórias , Vestíbulo do Labirinto/fisiopatologia , Adulto , Implante Coclear/efeitos adversos , Implante Coclear/métodos , Surdez/diagnóstico , Surdez/fisiopatologia , Feminino , Testes Auditivos/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/fisiopatologia , Estudos Prospectivos , Recuperação de Função Fisiológica , Resultado do Tratamento
17.
Vestn Otorinolaringol ; 84(1): 18-24, 2019.
Artigo em Russo | MEDLINE | ID: mdl-30938336

RESUMO

The aim of the study was to assess age-related changes of the transient evoked otoacoustic emissions (TEOAE) and distortion product otoacoustic emissions (DPOAE) as well as to evaluate age-related changes of DPOAE suppression in adult subjects with normal hearing and presbycusis. Only women participated in the study: 26 young women with normal hearing (20-31 years old) were included into the first group; the second group consisted of 28 elderly (60-74 years old) with normal hearing; the third group included 28 elderly women with presbycusis (mild-to-moderate hearing loss). Age-related decrease of prevalence and amplitude of OAEs was proved to be significant; no significant differences of these data for left and right ears were revealed. Contralateral suppression of DPOAE was noted more often and was the greatest in young listeners and was presented in all frequency range, meanwhile the suppression was minimal and rarely noted in patients with presbycusis. The DPOAE amplitude enhancement in the contralateral noise condition was recorded in all groups of listeners, more often in aged patients both with normal hearing and hearing loss. These results may indicate age-related changes of medial olivocochlear complex, which take place not only in patients with hearing loss but in normal hearing subjects as well.. The findings were confirmed by the results of acoustic reflex measurements obtained in this study.


Assuntos
Surdez , Emissões Otoacústicas Espontâneas , Adulto , Idoso , Cóclea , Surdez/diagnóstico , Feminino , Testes Auditivos , Humanos , Pessoa de Meia-Idade , Ruído , Reflexo Acústico , Adulto Jovem
18.
Adv Exp Med Biol ; 1130: 73-92, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30915702

RESUMO

It is estimated that at least 50% of congenital or childhood hearing loss is attributable to genetic causes. In non-syndromic hearing loss, which accounts for 70% of genetic hearing loss, approximately 80% of cases are autosomal recessive, 15% autosomal dominant, and 1-2% mitochondrial or X-linked. In addition, 30% of genetic hearing loss is syndromic. The genetic causes of hearing loss are highly heterogeneous. So far, more than 140 deafness-related genes have been discovered. Studies on those genes tremendously increased our understanding of the inner ear functions at the molecular level. It also offers important information for the patients and allows personalized and accurate genetic counseling. In many cases, genetic diagnosis of hearing loss can help to avoid unnecessary and costly clinical testing, offer prognostic information, and guide future medical management. On the other hand, a variety of gene therapeutic approaches have been developed aiming to relieve or converse the hearing loss due to genetic causes. Prevention of genetic hearing loss is feasible through prepregnancy and prenatal genetic diagnosis and counseling.


Assuntos
Surdez/diagnóstico , Surdez/prevenção & controle , Perda Auditiva/diagnóstico , Perda Auditiva/prevenção & controle , Surdez/genética , Orelha Interna , Feminino , Aconselhamento Genético , Perda Auditiva/genética , Humanos , Gravidez , Diagnóstico Pré-Natal
19.
BMJ Case Rep ; 12(2)2019 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-30814105

RESUMO

Streptococcus suis is a Gram-positive cocci bacterium that are found mainly in pigs and can be transmitted to human through pigs or pork exposure. The disease is mainly found among occupations involving swine contact in western countries whereas in Asia the disease is usually contracted through raw pork consumption. In this case report, we present a case of a middle-aged Thai man who acquired the infection from raw pork consumption. He presented with endogenous endophthalmitis with infective spondylodiscitis, sepsis and meningitis and later developed blindness of the right eye and permanent bilateral hearing loss disseminated from S. suis infection. Our report suggests that S. suis infection be considered as a causative factor in patient presenting with established clinical symptoms and predisposing factors. Cultural habit of eating raw pork should be taken into account especially in Asian countries.


Assuntos
Surdez/diagnóstico , Surdez/microbiologia , Endoftalmite/diagnóstico , Alimentos Crus/efeitos adversos , Carne Vermelha/efeitos adversos , Infecções Estreptocócicas/diagnóstico , Streptococcus suis/isolamento & purificação , Surdez/complicações , Endoftalmite/complicações , Endoftalmite/microbiologia , Humanos , Masculino , Pessoa de Meia-Idade , Infecções Estreptocócicas/complicações
20.
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
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