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Pesquisa : C09.218.458.341.887.432 [Categoria DeCS]
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[PMID]:28965846
[Au] Autor:Paul A; Drecourt A; Petit F; Deguine DD; Vasnier C; Oufadem M; Masson C; Bonnet C; Masmoudi S; Mosnier I; Mahieu L; Bouccara D; Kaplan J; Challe G; Domange C; Mochel F; Sterkers O; Gerber S; Nitschke P; Bole-Feysot C; Jonard L; Gherbi S; Mercati O; Ben Aissa I; Lyonnet S; Rötig A; Delahodde A; Marlin S
[Ad] Endereço:UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.
[Ti] Título:FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
[So] Source:Am J Hum Genet;101(4):630-637, 2017 Oct 05.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation. ISC proteins are involved in enzymatic catalysis, gene expression, and DNA replication and repair. We observed deregulated iron homeostasis in FDXR mutant fibroblasts and indirect evidence of mitochondrial iron overload. Functional complementation in a yeast strain in which ARH1, the human FDXR ortholog, was deleted established the pathogenicity of these mutations. These data highlight the wide clinical heterogeneity of mitochondrial disorders related to ISC synthesis.
[Mh] Termos MeSH primário: Ferredoxina-NADP Redutase/genética
Perda Auditiva Central/genética
Proteínas com Ferro-Enxofre/metabolismo
Ferro/metabolismo
Doenças Mitocondriais/genética
Mutação
Atrofia Óptica/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Aminoácidos
Pré-Escolar
Feminino
Ferredoxina-NADP Redutase/química
Ferredoxina-NADP Redutase/metabolismo
Teste de Complementação Genética
Perda Auditiva Central/enzimologia
Perda Auditiva Central/patologia
Seres Humanos
Proteínas com Ferro-Enxofre/genética
Masculino
Mitocôndrias/enzimologia
Mitocôndrias/genética
Mitocôndrias/patologia
Doenças Mitocondriais/enzimologia
Doenças Mitocondriais/patologia
Atrofia Óptica/enzimologia
Atrofia Óptica/patologia
Linhagem
Saccharomyces cerevisiae/genética
Saccharomyces cerevisiae/crescimento & desenvolvimento
Saccharomyces cerevisiae/metabolismo
Proteínas de Saccharomyces cerevisiae/genética
Proteínas de Saccharomyces cerevisiae/metabolismo
Alinhamento de Sequência
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Iron-Sulfur Proteins); 0 (Saccharomyces cerevisiae Proteins); E1UOL152H7 (Iron); EC 1.18.1.2 (Ferredoxin-NADP Reductase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171003
[St] Status:MEDLINE


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[PMID]:28954873
[Au] Autor:Amin SB; Saluja S; Saili A; Orlando M; Wang H; Laroia N; Agarwal A
[Ad] Endereço:Departments of Pediatrics, sanjiv_amin@urmc.rochester.edu.
[Ti] Título:Chronic Auditory Toxicity in Late Preterm and Term Infants With Significant Hyperbilirubinemia.
[So] Source:Pediatrics;140(4), 2017 Oct.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND OBJECTIVES: Significant hyperbilirubinemia (SHB) may cause chronic auditory toxicity (auditory neuropathy spectrum disorder and/or sensorineural hearing loss); however, total serum bilirubin (TSB) does not discriminate neonates at risk for auditory toxicity. Our objective was to compare TSB, bilirubin albumin molar ratio (BAMR), and unbound bilirubin (UB) for their association with chronic auditory toxicity in neonates with SHB (TSB ≥20 mg/dL or TSB that met criteria for exchange transfusion). METHODS: Infants ≥34 weeks' gestational age (GA) with SHB during the first 2 postnatal weeks were eligible for a prospective longitudinal study in India. Comprehensive auditory evaluations were performed at 2 to 3 months of age by using auditory brainstem response, tympanometry, and an otoacoustic emission test and at 9 to 12 months of age by using audiometry. The evaluations were performed by an audiologist unaware of the degree of jaundice. RESULTS: A total of 93 out of 100 infants (mean GA of 37.4 weeks; 55 boys, 38 girls) who were enrolled with SHB were evaluated for auditory toxicity. Of those, 12 infants (13%) had auditory toxicity. On regression analysis controlling for covariates, peak UB (but not peak TSB or peak BAMR), was associated with auditory toxicity (odds ratio 2.41; 95% confidence interval: 1.43-4.07; .001). There was significant difference in the area under the receiver operating characteristic curves between UB (0.866), TSB (0.775), and BAMR (0.724) for auditory toxicity ( = .03) after controlling for covariates. CONCLUSIONS: Unconjugated hyperbilirubinemia indexed by UB (but not TSB or BAMR) is associated with chronic auditory toxicity in infants ≥34 weeks' GA with SHB.
[Mh] Termos MeSH primário: Bilirrubina/sangue
Perda Auditiva Central/etiologia
Perda Auditiva Neurossensorial/etiologia
Hiperbilirrubinemia Neonatal/complicações
Doenças do Prematuro/etiologia
[Mh] Termos MeSH secundário: Biomarcadores/sangue
Doença Crônica
Feminino
Perda Auditiva Central/sangue
Perda Auditiva Central/diagnóstico
Perda Auditiva Central/epidemiologia
Perda Auditiva Neurossensorial/sangue
Perda Auditiva Neurossensorial/diagnóstico
Perda Auditiva Neurossensorial/epidemiologia
Seres Humanos
Hiperbilirrubinemia Neonatal/sangue
Hiperbilirrubinemia Neonatal/diagnóstico
Incidência
Lactente
Recém-Nascido
Recém-Nascido Prematuro
Doenças do Prematuro/sangue
Doenças do Prematuro/diagnóstico
Doenças do Prematuro/epidemiologia
Estudos Longitudinais
Masculino
Estudos Prospectivos
Curva ROC
Medição de Risco
Fatores de Risco
Albumina Sérica/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Biomarkers); 0 (Serum Albumin); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171015
[Lr] Data última revisão:
171015
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170929
[St] Status:MEDLINE


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[PMID]:28826025
[Au] Autor:Profant O; Roth J; Bures Z; Balogová Z; Lisková I; Betka J; Syka J
[Ad] Endereço:Department of Auditory Neuroscience, Institute of Experimental Medicine, The Czech Academy of Sciences, Prague, Czech Republic; Department of Otorhinolaryngology and Head and Neck Surgery, 1(st) Faculty of Medicine, Charles University in Prague, University Hospital Motol, Prague, Czech Republic; Dep
[Ti] Título:Auditory dysfunction in patients with Huntington's disease.
[So] Source:Clin Neurophysiol;128(10):1946-1953, 2017 Oct.
[Is] ISSN:1872-8952
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Huntington's disease (HD) is an autosomal, dominantly inherited, neurodegenerative disease. The main clinical features are motor impairment, progressive cognitive deterioration and behavioral changes. The aim of our study was to find out whether patients with HD suffer from disorders of the auditory system. METHODS: A group of 17 genetically verified patients (11 males, 6 females) with various stages of HD (examined by UHDRS - motor part and total functional capacity, MMSE for cognitive functions) underwent an audiological examination (high frequency pure tone audiometry, otoacoustic emissions, speech audiometry, speech audiometry in babble noise, auditory brainstem responses). Additionally, 5 patients underwent a more extensive audiological examination, focused on central auditory processing. The results were compared with a group of age-matched healthy volunteers. RESULTS: Our results show that HD patients have physiologic hearing thresholds, otoacoustic emissions and auditory brainstem responses; however, they display a significant decrease in speech understanding, especially under demanding conditions (speech in noise) compared to age-matched controls. Additional auditory tests also show deficits in sound source localization, based on temporal and intensity cues. We also observed a statistically significant correlation between the perception of speech in noise, and motoric and cognitive functions. However, a correlation between genetic predisposition (number of triplets) and function of inner ear was not found. CONCLUSIONS: We conclude that HD negatively influences the function of the central part of the auditory system at cortical and subcortical levels, altering predominantly speech processing and sound source lateralization. SIGNIFICANCE: We have thoroughly characterized auditory pathology in patients with HD that suggests involvement of central auditory and cognitive areas.
[Mh] Termos MeSH primário: Limiar Auditivo/fisiologia
Perda Auditiva Central/diagnóstico
Perda Auditiva Central/fisiopatologia
Doença de Huntington/diagnóstico
Doença de Huntington/fisiopatologia
Percepção da Fala/fisiologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Audiometria da Fala/métodos
Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia
Feminino
Perda Auditiva Central/etiologia
Seres Humanos
Doença de Huntington/complicações
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170822
[St] Status:MEDLINE


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[PMID]:28688553
[Au] Autor:Fontenot TE; Giardina CK; Teagle HF; Park LR; Adunka OF; Buchman CA; Brown KD; Fitzpatrick DC
[Ad] Endereço:University of North Carolina at Chapel Hill, Department of Otolaryngology, Chapel Hill, NC, United States. Electronic address: tatyana_fontenot@med.unc.edu.
[Ti] Título:Clinical role of electrocochleography in children with auditory neuropathy spectrum disorder.
[So] Source:Int J Pediatr Otorhinolaryngol;99:120-127, 2017 Aug.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To assess electrocochleography (ECochG) to tones as an instrument to account for CI speech perception outcomes in children with auditory neuropathy spectrum disorder (ANSD). MATERIALS & METHODS: Children (<18 years) receiving CIs for ANSD (n = 30) and non-ANSD (n = 74) etiologies of hearing loss were evaluated with ECochG using tone bursts (0.25-4 kHz). The total response (TR) is the sum of spectral peaks of responses across frequencies. The compound action potential (CAP) and the auditory nerve neurophonic (ANN) in ECochG waveforms were used to estimate nerve activity and calculate nerve score. Performance on open-set monosyllabic word tests was the outcome measure. Standard statistical methods were applied. RESULTS: On average, TR was larger in ANSD than in non-ANSD subjects. Most ANSD (73.3%) and non-ANSD (87.8%) subjects achieved open-set speech perception; TR accounted for 33% and 20% of variability in the outcomes, respectively. In the ANSD group, the PTA accounted for 69.3% of the variability, but there was no relationship with outcomes in the non-ANSD group. In both populations, nerve score was sensitive in identifying subjects at risk for not acquiring open-set speech perception, while the CAP and the ANN were more specific. CONCLUSION: In both subject groups, the TRs correlated with outcomes but these measures were notably larger in the ANSD group. There was also strong correlation between PTA and speech perception outcome in ANSD group. In both subject populations, weaker evidence of neural activity was related to failure to achieve open-set speech perception.
[Mh] Termos MeSH primário: Audiometria de Resposta Evocada/métodos
Implante Coclear/métodos
Perda Auditiva Central/fisiopatologia
Percepção da Fala/fisiologia
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Estudos de Coortes
Surdez/fisiopatologia
Surdez/cirurgia
Feminino
Seres Humanos
Lactente
Masculino
Estudos Prospectivos
Doenças do Nervo Vestibulococlear/cirurgia
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170803
[Lr] Data última revisão:
170803
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170710
[St] Status:MEDLINE


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[PMID]:28615543
[Au] Autor:Frohlich F; Basta D; Strübing I; Ernst A; Gröschel M
[Ad] Endereço:Department of Otolaryngology, Unfallkrankenhaus Berlin, Charité Medical School, Warener Straße 7, Berlin, Germany.
[Ti] Título:Time course of cell death due to acoustic overstimulation in the mouse medial geniculate body and primary auditory cortex.
[So] Source:Noise Health;19(88):133-139, 2017 May-Jun.
[Is] ISSN:1463-1741
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:It has previously been shown that acoustic overstimulation induces cell death and extensive cell loss in key structures of the central auditory pathway. A correlation between noise-induced apoptosis and cell loss was hypothesized for the cochlear nucleus and colliculus inferior. To determine the role of cell death in noise-induced cell loss in thalamic and cortical structures, the present mouse study (NMRI strain) describes the time course following noise exposure of cell death mechanisms for the ventral medial geniculate body (vMGB), medial MGB (mMGB), and dorsal MGB (dMGB) and the six histological layers of the primary auditory cortex (AI 1-6). Therefore, a terminal deoxynucleotidyl transferase dioxyuridine triphosphate nick-end labeling assay (TUNEL) was performed in these structures 24 h, 7 days, and 14 days after noise exposure (3 h, 115 dB sound pressure level, 5-20 kHz), as well as in unexposed controls. In the dMGB, TUNEL was statistically significant elevated 24 h postexposure. AI-1 showed a decrease in TUNEL after 14 days. There was no statistically significant difference between groups for the other brain areas investigated. dMGB's widespread connection within the central auditory pathway and its nontonotopical organization might explain its prominent increase in TUNEL compared to the other MGB subdivisions and the AI. It is assumed that the onset and peak of noise-induced cell death is delayed in higher areas of the central auditory pathway and takes place between 24 h and 7 days postexposure in thalamic and cortical structures.
[Mh] Termos MeSH primário: Estimulação Acústica/efeitos adversos
Apoptose
Córtex Auditivo/citologia
Corpos Geniculados/citologia
Ruído/efeitos adversos
[Mh] Termos MeSH secundário: Animais
Morte Celular
Feminino
Perda Auditiva Central
Perda Auditiva Provocada por Ruído
Marcação In Situ das Extremidades Cortadas
Camundongos
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170616
[St] Status:MEDLINE
[do] DOI:10.4103/nah.NAH_10_17


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[PMID]:28555599
[Au] Autor:Apeksha K; Kumar AU
[Ad] Endereço:Department of Audiology, All India Institute of Speech and Hearing, Mysore, India. apeksha_audio@yahoo.co.in.
[Ti] Título:Speech Perception in Quiet and in Noise Condition in Individuals with Auditory Neuropathy Spectrum Disorder.
[So] Source:J Int Adv Otol;13(1):83-87, 2017 Apr.
[Is] ISSN:1308-7649
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The study investigated the effect of noise on syllable perception in individuals with Auditory Neuropathy Spectrum Disorder (ANSD) and compared that with the normal hearing individuals. MATERIALS AND METHODS: A total of 54 participants were considered, out of which 26 individuals were diagnosed with ANSD and 28 with normal hearing sensitivity. Syllable identification and discrimination were assessed in both the groups in quiet as well as +10 dB SNR. RESULTS: All the individuals with ANSD performed poorer on syllable identification and syllable discrimination tasks compared to individuals with normal hearing. Information transfer and d-prime analyses revealed that noise affects the perception of voicing information in individuals with ANSD compared to place and manner information. Among the consonants tested, /pa/ was more resistant to noise. CONCLUSION: Noise had deleterious effects on speech perception in individuals with ANSD. Low-frequency information appears to be more susceptible to the effects of noise in individuals with ANSD.
[Mh] Termos MeSH primário: Limiar Auditivo
Potenciais Evocados Auditivos
Perda Auditiva Central/diagnóstico
Ruído
Percepção da Fala
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Feminino
Perda Auditiva Central/reabilitação
Seres Humanos
Masculino
Meia-Idade
Valor Preditivo dos Testes
Sensibilidade e Especificidade
Índice de Gravidade de Doença
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170531
[St] Status:MEDLINE
[do] DOI:10.5152/iao.2017.3172


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[PMID]:28502273
[Au] Autor:Wang L; Wang Z; Gao F; Peng KA
[Ad] Endereço:Department of Otorhinolaryngology - Head and Neck Surgery,Beijing Friendship Hospital,Capital Medical University,China.
[Ti] Título:Modiolar ossification in paediatric patients with auditory neuropathy.
[So] Source:J Laryngol Otol;131(7):598-601, 2017 Jul.
[Is] ISSN:1748-5460
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To describe our finding of increased ossification of the modiolus in paediatric patients with auditory neuropathy who met criteria for cochlear implantation. METHODS: A retrospective case series with a comparison group at a tertiary referral centre is described. Seven paediatric patients with auditory neuropathy who met criteria for and underwent cochlear implantation were identified. Fifteen paediatric implantees with bilateral profound sensorineural hearing loss were included as the comparison group. All patients underwent pre-operative computed tomography. Attenuation at the modiolus was measured in all subjects by a neuroradiologist blinded to clinical information. RESULTS: Attenuation values in the modiolus in the auditory neuropathy patients (mean ± standard deviation = 796.2 ± 53.0 HU) was statistically significantly higher than in the comparison sensorineural hearing loss patients (267.1 ± 45.6 HU; p < 0.05, t-test). CONCLUSION: Patients with auditory neuropathy who meet criteria for cochlear implantation demonstrate significantly higher modiolar attenuation on computed tomography imaging, consistent with increased ossification at the modiolus.
[Mh] Termos MeSH primário: Implantes Cocleares
Perda Auditiva Central/diagnóstico
Ossificação Heterotópica/diagnóstico
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Criança
Pré-Escolar
Feminino
Perda Auditiva Central/terapia
Perda Auditiva Neurossensorial/diagnóstico
Perda Auditiva Neurossensorial/terapia
Seres Humanos
Lactente
Imagem por Ressonância Magnética
Masculino
Desenho de Prótese
Estudos Retrospectivos
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170516
[St] Status:MEDLINE
[do] DOI:10.1017/S0022215117001037


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[PMID]:28335750
[Au] Autor:Tang F; Ma D; Wang Y; Qiu Y; Liu F; Wang Q; Lu Q; Shi M; Xu L; Liu M; Liang J
[Ad] Endereço:Department of Otolaryngology, The People's Hospital of Guangxi Zhuang Autonomous Region, 6 Taoyuan Road, Nanning, 530021, China.
[Ti] Título:Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.
[So] Source:BMC Med Genet;18(1):35, 2017 Mar 23.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). The pathogenic mutations of the genes responsible for the Chinese ANSD population remain poorly understood. METHODS: A total of 127 patients with non-syndromic hearing loss (NSHL) were enrolled in Guangxi Zhuang Autonomous Region. A hereditary deafness gene mutation screening was performed to identify the mutation sites in four deafness-related genes (GJB2, GJB3, 12S rRNA, and SLC26A4). In addition, whole-exome sequencing (WES) was applied to explore unappreciated mutation sites in the cases with the singularity of its phenotype. RESULTS: Well-characterized mutations were found in only 8.7% (11/127) of the patients. Interestingly, two mutations in the OTOF gene were identified in two affected siblings with ANSD from a Chinese family, including one nonsense mutation c.1273C > T (p.R425X) and one missense mutation c.4994 T > C (p.L1665P). Furthermore, we employed Sanger sequencing to confirm the mutations in each subject. Two compound heterozygous mutations in the OTOF gene were observed in the two affected siblings, whereas the two parents and unaffected sister were heterozygous carriers of c.1273C > T (father and sister) and c.4994 T > C (mother). The nonsense mutation p.R425X, contributes to a premature stop codon, may result in a truncated polypeptide, which strongly suggests its pathogenicity for ANSD. The missense mutation p.L1665P results in a single amino acid substitution in a highly conserved region. CONCLUSIONS: Two mutations in the OTOF gene in the Chinese deaf population were recognized for the first time. These findings not only extend the OTOF gene mutation spectrum for ANSD but also indicate that whole-exome sequencing is an effective approach to clarify the genetic characteristics in non-syndromic ANSD patients.
[Mh] Termos MeSH primário: Perda Auditiva Central/genética
Proteínas de Membrana/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Grupo com Ancestrais do Continente Asiático/genética
Limiar Auditivo
China
Códon sem Sentido
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Feminino
Perda Auditiva Central/patologia
Heterozigoto
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Dados de Sequência Molecular
Mutação de Sentido Incorreto
Linhagem
Fenótipo
Alinhamento de Sequência
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (Membrane Proteins); 0 (OTOF protein, human); 9007-49-2 (DNA)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170325
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0400-0


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[PMID]:28012542
[Au] Autor:Afifi PO; Elsanadiky HH
[Ad] Endereço:Lecturer of Audiology, Otorhinolaryngology Department, Ain Shams University, Cairo, Egypt. Electronic address: pretty_afifi@hotmail.com.
[Ti] Título:Audiological findings in children with ataxia-telangiectasia (A-T) syndrome.
[So] Source:Int J Pediatr Otorhinolaryngol;92:94-98, 2017 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:AIM: To assess peripheral and central hearing in children with A-T. METHOD: 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them. RESULTS: Basic Audiological evaluation is of a limited value as the children are not co-operative. Sound field testing could not be done. Bilateral normal middle ear functions as reflected by Tympanometry and Acoustic Reflexes. Advanced Audiological evaluation including OAEs and ABR are more valuable in assessing hearing in children with A-T. Bilateral pass response at all test frequencies in DPOAEs. Abnormal ABR findings were obtained in the form of a delay in wave V latency more than 2 SD with subsequent increased in I-V interpeak latency with no significant interaural latency difference. CONCLUSION: Consistent with bilateral normal peripheral hearing sensitivity with central hearing affection. LIMITATIONS: The rarity of the disease, make it difficult to be applied on many cases.
[Mh] Termos MeSH primário: Ataxia Telangiectasia/fisiopatologia
Limiar Auditivo
Potenciais Evocados Auditivos do Tronco Encefálico
Perda Auditiva Central/fisiopatologia
Emissões Otoacústicas Espontâneas
[Mh] Termos MeSH secundário: Testes de Impedância Acústica
Ataxia Telangiectasia/complicações
Criança
Pré-Escolar
Perda Auditiva/etiologia
Perda Auditiva/fisiopatologia
Perda Auditiva Central/etiologia
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161226
[St] Status:MEDLINE


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[PMID]:27718221
[Au] Autor:Amin SB; Saluja S; Saili A; Laroia N; Orlando M; Wang H; Agarwal A
[Ad] Endereço:Department of Pediatrics, University of Rochester, Rochester, NY, USA.
[Ti] Título:Auditory toxicity in late preterm and term neonates with severe jaundice.
[So] Source:Dev Med Child Neurol;59(3):297-303, 2017 Mar.
[Is] ISSN:1469-8749
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: Jaundice may cause auditory toxicity (auditory neuropathy and hearing loss). However, total serum bilirubin (TSB) does not discriminate neonates at risk for auditory toxicity. We compared TSB, bilirubin:albumin molar ratio (BAMR), and unbound bilirubin for their association with auditory toxicity in neonates with severe jaundice (TSB ≥342µmol/L, or that met exchange transfusion). METHOD: Neonates greater or equal to 34 weeks gestational age with severe jaundice during the first 2 postnatal weeks were eligible for prospective cohort study, unless they had craniofacial malformations, chromosomal disorders, toxoplasmosis, other infections, rubella, cytomegalovirus, herpes simplex infections, surgery, or family history of congenital deafness. RESULTS: Twenty-eight out of 100 neonates (mean gestational age 37.4wks; 59 males, 41 females) had auditory toxicity. Peak unbound bilirubin, but not peak TSB and BAMR, was associated with auditory toxicity (p<0.05) in neonates with severe (TSB <427.5µmol/L) and extreme hyperbilirubinemia (TSB ≥427.5µmol/L). Area under the receiver operating characteristic curve for unbound bilirubin (0.78) was significantly greater (p=0.03) than TSB (0.54) among neonates with severe but not extreme hyperbilirubinemia. INTERPRETATION: Unbound bilirubin is more strongly associated with auditory toxicity than TSB and/or BAMR in greater or equal to 34 weeks gestational age neonates with severe jaundice. Unbound bilirubin is a better predictor than TSB in neonates with severe hyperbilirubinemia.
[Mh] Termos MeSH primário: Perda Auditiva Central/etiologia
Perda Auditiva/etiologia
Icterícia Neonatal/complicações
[Mh] Termos MeSH secundário: Bilirrubina/sangue
Estudos de Coortes
Eletroencefalografia
Potenciais Evocados Auditivos do Tronco Encefálico
Feminino
Idade Gestacional
Perda Auditiva/sangue
Perda Auditiva Central/sangue
Seres Humanos
Índia
Recém-Nascido
Icterícia Neonatal/metabolismo
Masculino
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161009
[St] Status:MEDLINE
[do] DOI:10.1111/dmcn.13284



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