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2.
Laryngorhinootologie ; 98(12): 840-841, 2019 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-31810099
3.
Laryngorhinootologie ; 98(12): 885-897, 2019 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-31810105

RESUMO

Cholesteatoma is a chronic inflammation of the middle ear, which leads to a progressive bony destruction of the petrous bone. Main symptoms are fetid otorrhea, hearing loss and dizziness. Left untreated, cholesteatoma may be fatal due to intracranial complications. The following overview is intended to illustrate the current and generally recognized knowledge of genesesi, clinical symptoms und preoperative diagnostical procedure. Surgical therapie will be focussed in a second part.


Assuntos
Colesteatoma , Surdez , Orelha Média , Perda Auditiva , Humanos , Osso Petroso
5.
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
7.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 54(12): 881-887, 2019 Dec 07.
Artigo em Chinês | MEDLINE | ID: mdl-31887812

RESUMO

Objective: To screen, diagnose and follow up the abnormal mutation in the gene screening of neonatal deafness. Methods: A total of 24161 newborns born in Zhuhai Maternal and Child Health Hospital from February 1, 2015 to January 31, 2008 were screened for hearing and deafness genes, and audiological screening, diagnosis and 1-3 years follow-up were carried out for the newborns with positive gene screening. Results: There were 991 cases of deafness gene mutation (533 males and 458 females), and the rate of abnormal mutation was 4.10%(991/24 161). Among them, 921 cases were single heterozygous mutation, 130 cases were failed in primary hearing screening, 11 cases were failed in secondary hearing screening, 8 cases were abnormal in audiological diagnosis finally. In these 8 cases, 3 were diagnosed as otitis media and passed audiological follow-up after cure, 2 cases of single ear sensorineural injury caused by high-risk factors, passed after close audiological follow-up, and the other 3 cases were closely audiological follow-up while none of them were successfully sequenced. All of them were moderate to severe sensorineural deafness, 1 case was heterozygous mutation at 3 loci of GJB2(c.235delC,c.408C>A,c.134G>A), 1 case was heterozygous mutation at 2 loci of GJB2(c.235delC, c.109G>A), and 1 case was single heterozygous mutation of GJB2(c.235delC). The remaining 913 cases who passed the primary screening, secondary screening or hearing diagnosis were followed up for 1 to 3 years. Three cases of multiple heterozygous mutation were found in gene screening(2 cases were SLC26A4 2168A>G, IVS7-2A>G, 1 case was GJB2 c.176_191del 16bp, c.299_300del AT), all of them passed both primary and secondary hearing screening. In these 3 cases, the final audiological diagnosis was moderate sensorineural deafness in both ears, with no improvement in the follow-up of 1-3 years. There were 9 monogenic homozygous mutations, 7 failed in primary hearing screening, 3 failed in secondary hearing screening and also failed in audiological diagnosis and 1-3 years' audiological follow-up, all of whom were GJB2 c.235 del C homozygous mutations, and one of whom had a definite family history of deafness. The remaining 6 cases of homozygous mutation diagnosed by primary screening, secondary screening or hearing diagnosis were GJB2 c109G>A homozygous mutation, and passed the 1-3 years' hearing follow-up. 58 children with mtDNA mutations, including 2 with 12S rRNA 1494C>T homozygous mutation, 47 with 1555A>G homozygous mutation, and 9 with 1555A>G heterozygous mutation, all passed the primary or secondary hearing screening, and were instructed to ban ototoxic drugs for the whole life, and passed the 1-3 years' hearing follow-up. Conclusions: The audiological follow-up of children with monogenic heterozygous mutations in deafness gene screening is generally normal. In case of abnormality, the influencing factors such as otitis media should be excluded at first. In case of unexplained moderate to severe sensorineural deafness, the whole-gene sequencing should be performed to find possible pathogenic factors. The children with homozygous mutation or compound heterozygous mutation in gene screening, most of whom show different degrees of hearing loss, should be followed up for a long time, and provide parents with scientific and reasonable genetic counseling according to the mutation genes and loci,. The hearing of drug-induced deafness gene carriers is normal after birth. Parents should be advised to strengthen prevention and follow-up is generally enough.


Assuntos
Análise Mutacional de DNA , Surdez , Perda Auditiva , Pré-Escolar , China , Conexina 26 , Conexinas , Feminino , Seguimentos , Testes Genéticos , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Triagem Neonatal
9.
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
11.
Artigo em Chinês | MEDLINE | ID: mdl-31623034

RESUMO

Objective:To explore the early vowel perception development of pediatric cochlear implant(CI) of 1-3 years old. Method:A total of 123 children who had accepted cochlear implantation under 3 years old were analyzed retrospectively. According to the age of implantation, all participants were divided into two groups as 1 year old group(1-<2) and 2 years old group(2-<3). The vowel perception of mandarin early speech perception(MESP) test scores at 12, 24, 36 momths after implantation as well as the trends in vowel perception between group 1 and normal hearing pediatrics of the same age were analyzed to research the development of vowel perception in pediatric cochlear implants and the effect of implanted age as well as physiological age. Result:The scores improved notably in two groups with the increase of physiological age(P<0.01); The vowel perception of group 1 was significantly better than that of group 2(P<0.01), However, there were great difference between group 1 and normal hearing pediatrics of the same age. Conclusion:With the increase of physiological age, the vowel perception would be improved correspondingly within 3 years of pediatric cochlear implants under the age of 3; However, the earlier the age of implant, the better the vowel perception is.


Assuntos
Implantes Cocleares , Pediatria , Percepção da Fala , Pré-Escolar , Implante Coclear , Surdez , Humanos , Lactente , Estudos Retrospectivos
12.
Pan Afr Med J ; 33: 174, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31565135

RESUMO

The association between deafness and visual disorders is frequent. These disorders range from simple refractive disorder to severe disease that can lead to disability. Hence the interest of early screening. This study aims to highlight the importance of multidisciplinary management and of the need for ophthalmological examination in each deaf child. We conducted a prospective monocentric data collection from medical records of 200 children followed for hypoacousia from January 2014 to January 2015. Each child underwent complete ophthalmological examination, ENT examination and clinical examination. Data from 155 medical records were collected. Ocular involvement was found in 47 patients, reflecting a rate of 30.4%. Bilateral involvement was found in 45 patients. The main syndromic causes were: Usher syndrome (8 casess), Waardenbourg syndrome (5 cases), Alport syndrome (3 cases), Wolfram syndrome (2 cases), Goldenhar syndrome (3 cases), Cogan syndrome (3 cases), Franceschetti-Kleinsyndrome (1 case), Charge syndrome(1 case), otomandibular syndrome (1 case), Stickler syndrome(1 case), Alström syndrome (1 case), Refsum disease (1 case), Susac syndrome (1 case) and KID Syndrome (1 case). Screening for ocular involvement allowed to shorten the average length of cochlear implantation from 9 months to 3 months. There are numerous ocular and auditory involvements because of the embryological and cellular similarities of these two organs, including the retina and the inner ear. The diagnosis of these involvements is facilitated by the presence of facial dysmorphism; on the other hand, diagnosis is difficult when there are visual and auditory sensorineural involvements. Early diagnosis of ocular and auditory involvements allows for best psychomotor development and optimal social inclusion. Therefore multidisciplinary management is necessary to allow for the best psychomotor, orthophonic and visual rehabilitation.


Assuntos
Implante Coclear/estatística & dados numéricos , Surdez/complicações , Programas de Rastreamento/métodos , Transtornos da Visão/epidemiologia , Adolescente , Criança , Pré-Escolar , Surdez/cirurgia , Diagnóstico Precoce , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Síndrome , Fatores de Tempo , Transtornos da Visão/diagnóstico
13.
Vestn Otorinolaringol ; 84(4): 67-71, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31579062

RESUMO

In the world, the spread of hearing loss due to age is an important socio-medical problem. Age-related hearing loss is the result of the biological process of aging of the tissue elements of the auditory analyzer. Changes in hearing develops by a complex of factors associated with both genetic, environmental and social aspects. Presbycusis is one of the causes of human cognitive disorders. Recent studies on hearing impairment prove a correlation with cognitive processes that increase the risk of dementia in the elderly. Timely rehabilitation of hearing with the use of hearing aids allows you to delay the processes of inhibition of cognitive function, and allows older people to prolong active longevity. Patients require consistent auditory and cognitive training for better socialization.


Assuntos
Surdez , Auxiliares de Audição , Presbiacusia , Idoso , Idoso de 80 Anos ou mais , Envelhecimento , Testes Auditivos , Humanos , Presbiacusia/terapia
14.
Vestn Otorinolaringol ; 84(4): 72-80, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31579063

RESUMO

The ability of drugs to have an ototoxic effect has been studied for a long time, however, the true prevalence of this undesirable phenomenon is unknown, which is due to the use of various audiological protocols, a wide range of reactions to drugs in different ethnic groups, and most importantly, the lack of caution with regard to otological symptoms due to their reversibility or lack of immediate threat to life. Drug-induced ototoxicity is a functional disorder of the inner ear (cochlea and/or vestibular apparatus) or eighth pair of cranial nerves. Pharmacotherapy, associated with the development of ototoxic drug reactions, may remain undervalued for a long time, often until irreversible hearing impairment is formed. The most frequently prescribed drugs that cause ototoxic phenomena include anticancer drugs, antibacterial drugs of the aminoglycoside group, loop diuretics, calcium channel blockers, non-steroidal anti-inflammatory drugs, antimalarial drugs, salicylates, etc. Monitoring the degree of hearing impairment before and during therapy is important in preventing the development of drug-induced ototoxicity and makes it possible to consider alternative treatment regimens in a timely manner. It is in this connection that the role of participation in the appointment of rational pharmacotherapy to patients with a potential risk of developing otological phenomena of a clinical pharmacologist and audiologist undoubtedly increases.


Assuntos
Surdez , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Perda Auditiva , Aminoglicosídeos/efeitos adversos , Antibacterianos/efeitos adversos , Surdez/induzido quimicamente , Orelha Interna/efeitos dos fármacos , Perda Auditiva/induzido quimicamente , Humanos
15.
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
17.
HNO ; 67(10): 769-777, 2019 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-31520093

RESUMO

BACKGROUND: Dichotic speech recognition of side-separated speech stimuli requires their central nervous processing and has been used since the 1950s in a variety of clinical settings. OBJECTIVE: The objective of this study was to investigate the dichotic speech recognition of normal-hearing (NH) subjects, cochlear implant (CI) recipients with single-sided deafness (SSD), and bilateral CI (BilCI) recipients with the dichotic discrimination test according to Feldmann. MATERIALS AND METHODS: The speech recognition of ten adult NH subjects, ten SSD CI recipients, and ten BilCI recipients was determined at 65 dB SPL or 65 dB SPL equivalent for monotic presentation of trisyllabic nouns of the Feldmann test (NH subjects: better ear, poorer ear; SSD CI recipients: NH ear, CI; BilCI recipients: better CI, poorer CI) and for dichotic, i.e., simultaneous side-separated, presentation. RESULTS: The NH subjects showed significantly poorer speech recognition for dichotic presentation than for monotic presentation. Speech recognition of SSD CI recipients was significantly worse with the CI than with the NH ear for both monotic and dichotic presentation. For both presentation conditions, BilCI recipients obtained significantly lower speech recognition with the poorer CI compared to the better CI. With each of the two CI, BilCI recipients had significantly worse speech recognition for dichotic presentation than for monotic presentation. CONCLUSION: All three study groups-NH subjects, SSD CI recipients, and BilCI recipients-were able to recognize dichotically presented speech with both ears. For SSD CI recipients, there was no negative effect of the CI on speech recognition with the NH ear for dichotic presentation.


Assuntos
Implantes Cocleares , Surdez , Percepção da Fala , Adulto , Implante Coclear , Humanos , Fala
18.
Stomatologiia (Mosk) ; 98(4): 93-95, 2019.
Artigo em Inglês, Russo | MEDLINE | ID: mdl-31513158

RESUMO

The paper presents a rare clinical case of an infant with KID (Keratitis, Ichthyosis, Deafness) syndrome (about 100 patients reported so far) admitted for histological verification of oral mucosa lesions. Disease pathogenesis defines inadequate reparation and skin and mucosa innate immunity defect leading to higher incidence of bacterial and fungal infections, so the 4-years old girl received treatment for vegetating candidiasis of the oral mucosa for several weeks with no clinical improvement. Initial examination showed that the oral lesions resulted from sharp edges of severely affected carious teeth. Histological study of multifocal biopsy revealed pyogenic granulomas and no signs of SCC. Teeth extraction and symptomatic treatment leaded to significant clinical improvement and some remained mucosal changes may be attributed to syndrome manifestations.


Assuntos
Surdez , Cárie Dentária , Ictiose , Ceratite , Doenças da Boca , Pré-Escolar , Surdez/complicações , Cárie Dentária/etiologia , Feminino , Humanos , Ictiose/complicações , Ceratite/complicações , Doenças da Boca/etiologia , Neoplasias Cutâneas
19.
BMC Public Health ; 19(1): 1277, 2019 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-31533687

RESUMO

BACKGROUND: Current data suggest that approximately 466 million people (5.0%) of the world's population have disabling hearing loss, therefrom, 34 million children, impacting their quality of life. To provide estimates on the prevalence of hearing loss on a national level, we reviewed the epidemiological literature addressing hearing loss in children and adolescents living in Germany as an example for a Western country. METHODS: We searched Medline, Web of Science, Cochrane Library, ScienceDirect and LIVIVO to identify published data. Furthermore, we manually searched websites of relevant institutions and journals not listed in electronically and searched for ongoing studies and/or not yet published data in clinicaltrials.gov . Study selection, data extraction, and methodological assessment were carried out by two reviewers. RESULTS: In total, 11 reports provided data with sample sizes ranging from 310 up to more than 14 million children and adolescents. Prevalence data were collected by interviews (self-assessments), using pure-tone audiometry or the international classification of diseases (ICD-10) coding and ranged from 0.1 to 128 per 1000 children. Although the estimate of the prevalence of hearing loss goes down, when the threshold was raised, generating a comprehensive and coherent set of estimates proved challenging owing to clinical heterogeneity including variation in age, the study setting, the definition of hearing loss and the assessment method. Moreover, representativeness (external validity) was often impaired owing to estimates lacking currentness (i.e., referring to former West Germany) or selected (patient) data and may not be typical for a more general population. CONCLUSIONS: In conclusions, this work raises public awareness of the high prevalence of hearing loss, highlights issues associated with epidemiological research and is of great importance for researcher and those who use epidemiological data to inform clinical and political decision making.


Assuntos
Bem-Estar da Criança/estatística & dados numéricos , Auxiliares de Audição/estatística & dados numéricos , Perda Auditiva/epidemiologia , Qualidade de Vida/psicologia , Testes de Impedância Acústica , Adolescente , Criança , Surdez/epidemiologia , Alemanha/epidemiologia , Perda Auditiva/diagnóstico , Humanos , Masculino , Prevalência
20.
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
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