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1.
Rev. Bras. Saúde Mater. Infant. (Online) ; 21(2): 679-684, Apr.-June 2021. tab
Article in English | LILACS | ID: biblio-1340647

ABSTRACT

Abstract Introduction: Bartter's syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter's syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter's syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter's syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.


Resumo Introdução: a síndrome de Bartter inclui um grupo heterogéneo de tubulopatias hereditárias perdedoras de sal. Existem duas formas de apresentação clínica: clássica e neonatal, a forma mais grave. Os tipo I e II representam a maioria dos casos neonatais. Os tipos III e V são geralmente menos graves. Caracteristicamente, a síndrome de Bartter tipo IV é uma nefropatia perdedora de sal com sintomas neonatais ligeiros a graves, com um aspeto especí- fico - surdez neurossensorial. A síndrome de Bartter tipo IV é o tipo menos comum das formas recessivas da doença. Descrição: relatamos o primeiro caso de uma criança portuguesa, com surdez neurossensorial, poliúria, polidipsia e restrição de crescimento, nascida prematuramente devido a polihidrâmnios grave, homozigótica para a mutação G47R do gene BSND, responsável pela síndrome de Bartter tipo IV. Discussão: são raros os casos publicados sobre síndrome de Bartter tipo IV atribuída a esta mutação, e a maioria referem-se a diagnósticos mais tardios, com manifestações clínicas ligeiras. A fraca correlação fenótipo-genótipo combinada com a raridade desta síndrome tornam o diagnóstico pré-natal desafiante. Perante um caso de polihidrâmnios grave em um feto sem malformações aparentes, cariótipo normal e após exclusão de patologia materna, as doenças autossómicas recessivas, incluindo as tubulopatias, devem ser sempre consideradas.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Adult , Prenatal Diagnosis , Bartter Syndrome/physiopathology , Bartter Syndrome/genetics , Polyhydramnios/diagnosis , Polyhydramnios/etiology , Pregnancy Complications , Pregnancy Trimester, Third , Hearing Loss, Sensorineural/genetics , Obstetric Labor, Premature
2.
Rev. inf. cient ; 100(2): e3427, mar.-abr. 2021. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1251825

ABSTRACT

RESUMEN Introducción: La educación de los pacientes adultos mayores hipoacúsicos sobre su enfermedad y el uso de audífonos es una exigencia social. Objetivo: Diseñar e implementar una intervención educativa dirigida a la preparación de los pacientes adultos mayores con hipoacusia neurosensorial respecto al uso de audífonos para la rehabilitación auditiva atendidos en el Centro Auditivo "Dr. Mario Velázquez Leal" de la provincia de Guantánamo en el año 2019. Método: Se realizó un pre experimento en 80 pacientes con hipoacusia neurosensorial que utilizaron audífonos. El estímulo consistió en la implementación de una intervención educativa dirigida a su preparación respecto al tema hipoacusia y el uso de audífonos para la rehabilitación auditiva. Resultados: El 88,7 % de los pacientes consideró que la hipoacusia limitaba la calidad de vida y el 87,5 % reconoció que asumía una actitud inadecuada para el control de la discapacidad, lo que indicó la necesidad de educarlos respecto al tema. El 36,2 % de ellos está adecuadamente preparado sobre el tema, luego de la intervención educativa esta proporción se elevó hasta el 93,7 %. Conclusiones: Se identifica que los pacientes adultos mayores con hipoacusia neurosensorial que utilizan audífonos para la rehabilitación auditiva muestran carencias teóricas sobre el tema hipoacusia y uso de audífonos, que son resueltas con el diseño e implementación de una intervención educativa dirigida a su preparación para esta finalidad.


ABSTRACT Introduction: Educating the older hearing impaired patients about their condition and the use of hearing aids is a social requirement. Objective: To design and implement an educative intervention aimed at preparing older adult patients with presence of sensorineural hearing loss regarding the use of hearing aids for auditory rehabilitation attended at the Centro Auditivo "Dr. Mario Velázquez Leal", Guantánamo, in 2019. Method: A pre-experimental study was conducted on 80 patients with sensorineural hearing loss who used hearing aids. The stimulus consisted on the implementation of an educative intervention aimed at preparing them for appearance hearing loss and the use of hearing aids for auditory rehabilitation. Results: The 88.7% of patients considering that hearing loss is a problem in health and 87.5% recognized that they had an inadequate attitude towards the management of their impairment, which revealed the need to educate them on the subject. The 36.2% of patients were adequately prepared on the subject, but after the educative intervention this proportion rose to 93.7%. Conclusions: It is marked that older adult patients with sensorineural hearing loss, who use hearing aids for auditory rehabilitation, demonstrated theoretical deficiencies on the hearing loss and use of hearing aids subject, which are solved with the design and implementation of an educative intervention aimed at preparing the patients for this purpose.


RESUMO Introdução: A educação dos pacientes idosos com deficiência auditiva sobre a sua doença eo uso de aparelhos auditivos é uma exigência social. Objetivo: Projetar e implementar uma intervenção educativa destinada a preparar pacientes idosos com perda auditiva neurossensorial em relação ao uso de aparelhos auditivos para reabilitação auditiva atendidos no Centro Auditivo "Dr. Mario Velázquez Leal" da província de Guantánamo durante 2019. Método: Um pré-experimento foi realizado em 80 pacientes com perda auditiva neurossensorial que usou aparelhos auditivos. O estímulo consistiu na implementação de uma intervenção educacional que visa a sua preparação em relação à questão da perda e do uso de aparelhos auditivos para reabilitação auditiva. Resultados: 88,7% dos pacientes consideraram que a perda auditiva limitou sua qualidade de vida e 87,5% reconheceram que assumiram uma atitude inadequada para controlar a deficiência, o que indicou a necessidade de educá-los sobre o assunto. 36,2% deles estão adequadamente preparados sobre o assunto, após a intervenção educativa essa proporção subiu para 93,7%. Conclusões: Identifica-se que pacientes idosos com perda auditiva neurossensorial usuários de aparelhos para reabilitação auditiva apresentam deficiências teóricas sobre o tema perda auditiva e uso aparelhos auditivos, as quais são sanadas com a concepção e implementação de uma intervenção educativa voltada à sua preparação. para este propósito.


Subject(s)
Humans , Middle Aged , Aged , Aged, 80 and over , Hearing Aids , Hearing Loss, Sensorineural/rehabilitation , Early Medical Intervention
3.
Article in Portuguese | LILACS | ID: biblio-1359777

ABSTRACT

RESUMO: A atrofia óptica autossômica dominante (ADOA) é uma das formas mais comuns de atrofias ópticas hereditárias, e causada por mutações no gene OPA1. Os pacientes afetados por essa doença geralmente apresentam perda visual na primeira década de vida, podendo apresentar manifestações extraoftalmológicas no decorrer dos anos, configurando uma síndrome chamada OPA1 plus ou ADOA-plus. Objetivos: Relatar caso de paciente portadora da síndrome ADOA-plus, estabelecendo correlações com casos descritos na literatura. Relato de caso: Paciente feminino, 30 anos, foi encaminhada para avaliação de quadro de atrofia óptica progressiva associada a sintomas de neuropatia periférica. Aos dois anos, foi diagnosticada com perda visual parcial em consulta de puericultura. Não relatou outros sintomas associados durante a infância e a adolescência. Aos 20 anos, apresentou dificuldades de deambular, fraqueza em membros inferiores e falta de equilíbrio. Aos 25 anos, após extensa investigação, foi identificada, através de sequenciamento de exoma, mutação patológica no gene OPA1 confirmando o diagnóstico ADOA-plus e iniciado tratamento com Coenzima Q10. Atualmente a paciente relata ataxia sensitiva, diminuição da acuidade visual progressiva, fasciculações e câimbras em MMII, disfagia e dispneia. Discussão: Muitos pacientes com ADOA-plus apresentam surdez neurossensorial como sintoma extraoftalmológico mais comum, além de quadros de parkinsonismo e demência, ataxia e ptose. Paciente relatada constitui um caso de atrofia óptica associado à neuropatia periférica, ataxia e miopatia. Devido à ampla variabilidade clínica dessa doença, deve-se investigar mutações no OPA1 em casos de paraparesia espástica progressiva associada à atrofia óptica, visto que possibilidade de tratamento com Coenzima Q10. (AU)


ABSTRACT: Introduction: Autosomal dominant optic atrophy (ADOA) is one of the most common forms of inherited optic atrophies and is caused by mutations in the OPA1 gene. Patients affected by this disease usually present visual loss in the first decade of life, and may present extra-ophthalmologic manifestations over the years, configuring a syndrome called OPA1 plus or ADOA-plus. Objectives: to report the case of a patient with ADOA-plus syndrome, establishing correlations with cases described in the literature, Case report: a 30-year-old female patient was referred for evaluation of progressive optic atrophy associated with symptoms of peripheral neuropathy. At two years of age, she was diagnosed with partial visual loss during a childcare visit. She reported no other associated symptoms during childhood and adolescence. At the age of 20, she presented with difficulty walking, lower limb weakness, and poor balance. At 25, after extensive investigation, a pathological mutation in the OPA1 gene was identified through exome sequencing, confirming the diagnosis of ADOA-plus, and treatment with Coenzyme Q10 was initiated. Currently the patient reports sensory ataxia, progressive decrease in visual acuity, fasciculations and cramps in the lower limbs, dysphagia and dyspnea. Discussion: Many patients with ADOA-plus present sensorineural deafness as the most common extra-ophthalmologic symptom, in addition to parkinsonism and dementia, ataxia and ptosis. The patient reported is a case of optic atrophy associated with peripheral neuropathy, ataxia and myopathy. Due to the wide clinical variability of this disease, OPA1 mutations should be investigated in cases of progressive spastic paraparesis associated with optic atrophy, since the possibility of treatment with Coenzyme Q10. (AU)


Subject(s)
Humans , Female , Adult , Ataxia , Deglutition Disorders , Visual Acuity , Coenzymes , Peripheral Nervous System Diseases , Parkinsonian Disorders , Paraparesis, Spastic , Optic Atrophy, Autosomal Dominant , Hearing Loss, Sensorineural , Muscle Cramp
4.
Rev. méd. hondur ; 89(1): 57-61, 2021. ilus
Article in Spanish | LILACS | ID: biblio-1283018

ABSTRACT

El síndrome de Susac es una entidad rara, descrito como una tríada clínica de encefalopatía, sordera neurosensorial y trastorno visual por oclusión de ramas de arteria retiniana, aunque no siempre se presenta como tríada, se carac- teriza por evolución prolongada y no necesariamente secuencial ni correlacionada con la presentación clínica, que es variable, por lo que el diagnóstico puede ser tardío e influenciar el pronóstico. Es más frecuente en mujeres. La patogénesis se considera como una enfermedad microangiopática autoinmune a nivel cerebral, retiniana y coclear. Descripción del caso clínico: Se presenta caso de paciente masculino de 36 años, con cuadro de cefalea, cambios conductuales, déficit motor y sensitivo de hemicuerpo derecho, seguido por alteraciones visuales y disminución de per- cepción auditiva. Se realiza diagnóstico con imagen de resonancia magnética cerebral con lesiones redondeadas hiperintensas en cuerpo calloso y regiones cortico-subcorticales; audiometría con sordera neurosensorial; y angiografía con fluoresceína de retina con obstrucción de arteria retiniana, confirmando este último recur- so el diagnóstico de síndrome de Susac. Conclusiones: Esta es una enfermedad probablemente subdiagnosticada que debe ser contemplada en el diagnóstico diferencial de enfermedades vas- culares cerebrales o desmielinizantes e implica importantes com- plicaciones y secuela sobre el paciente, el diagnóstico temprano influencia el pronóstico, por lo que debe establecerse tratamiento agresivo y temprano a fin de minimizar daños...(AU)


Subject(s)
Humans , Male , Adult , Susac Syndrome/diagnosis , Hearing Loss, Sensorineural/complications , Brain Diseases , Fluorescein Angiography/methods
5.
CoDAS ; 33(6): e20200094, 2021. tab
Article in Portuguese | LILACS | ID: biblio-1286138

ABSTRACT

RESUMO Objetivo Avaliar a audibilidade de fala em crianças usuárias de próteses auditivas e correlacionar o Índice de Inteligibilidade de Fala à detecção de fonemas. Método 22 crianças e adolescentes usuários de próteses auditivas passaram por avaliação audiológica básica, verificação in situ (e consequente obtenção do Índice de Inteligibilidade de Fala - SII - para condições com e sem próteses auditivas) e pesquisa dos limiares de detecção para fonemas por meio do teste Ling-6(HL). Resultados O SII médio foi 25,1 sem próteses auditivas e 68,9 com amplificação (p <0,001*). Os limiares de detecção de fonemas em campo livre, em dBNA, foram, sem amplificação /m/=29,9, /u/=29,5, /a/=35,5, /i/=30,8, /∫/=44,2 e /s/=44,9, e com amplificação /m/=13,0, /u/=11,5 /a/=14,3, /i/=15,4, /∫/=20,4 e /s/=23,1 (p <0,001*). Houve correlação negativa entre SII e os limiares de todos os fonemas na condição sem próteses (p≤0,001*) e entre SII e o limiar do /s/ com próteses (p = 0,036*). Conclusão Os limiares de detecção de todos os fonemas são menores do que na condição sem próteses. Há correlação negativa entre SII e os limiares de todos os fonemas na situação sem próteses e entre SII e o limiar de detecção do fonema /s/ na situação com próteses auditivas.


ABSTRACT Purpose To evaluate speech audibility in schoolchildren hearing aids users and correlate the Speech Intelligibility Index to phonemes detecion. Methods 22 children and adolescents hearing aids users, underwent audiological evaluation, in situ verification (and consequent obtaining the Speech Intelligibility Index - SII - for conditions with and without hearing aids) and detection thresholds for phonemes by Ling-6 (HL) test. Results The average value for the SII was 25.1 without hearing aids and 68.9 with amplification (p <0.001 *). The phoneme detection thresholds in free field, in dBHL, were, without amplification /m/ = 29.9, /u/ = 29.5, /a/ = 35.5, /i/ = 30.8, /∫/ = 44.2 e /s/ = 44.9, and with amplification /m/ = 13.0, /u/ = 11.5 /a/ = 14.3, /i/ = 15.4, /∫/ = 20.4 e /s/ = 23.1 (p<0.001*). There was a negative correlation between SII and the thresholds of all phonemes in the condition without hearing aids (p≤0.001*) and between SII and the /s/ threshold with hearing aids (p = 0.036*). Conclusion The detection thresholds for all phonemes are lower than without hearing aids. There is a negative correlation between SII and the thresholds of all phonemes in the situation without hearing aids and between SII and the detection threshold of the phoneme / s / in the situation with hearing aids.


Subject(s)
Humans , Child , Adolescent , Speech Perception , Hearing Loss, Sensorineural , Auditory Threshold , Speech Intelligibility , Hearing Aids , Hearing Tests
6.
CoDAS ; 33(4): e20200021, 2021. tab, graf
Article in Portuguese | LILACS | ID: biblio-1286114

ABSTRACT

Resumo A miopatia mitocondrial é causada pela ausência e/ou insuficiência de uma enzina quaternária, L-carnitina, responsável por transportar ácidos graxos livres para a parte interna da mitocôndria. A função da mitocôndria é produzir energia, contribuindo para o bom funcionamento das células. A Lipidose Muscular é uma doença que provoca anomalias em enzimas que metabolizam gordura e por consequência causa acúmulo de toxinas de subprodutos com gordura nos tecidos. O objetivo deste trabalho é apresentar o estudo de caso da paciente B.D., 37 anos, diagnosticada com Lipidose Muscular aos seis anos, com deficiência de L-Carnitina e relatar o acompanhamento fonoaudiológico realizado em um serviço de saúde auditiva. A abertura de prontuário da paciente foi realizada em 05/03/1989. Foi prescrito pelo neurologista o uso contínuo de 2g/dia de L-carnitina. A mãe relatou que B.D. apresentava dificuldades em ouvir, pois era muito desatenta, o que foi mais evidente quando começou a frequentar a escola. Em 1988, a paciente foi diagnosticada com perda auditiva neurossensorial de grau moderado bilateral e começou a fazer uso de aparelhos de amplificação sonora individual retroauriculares em 1989. O desempenho escolar e comunicação melhoraram. Em 1998, passou a utilizar aparelhos tipo micro canal, o que a favoreceu esteticamente, promoveu melhora da localização sonora e maior ganho em altas frequências. Os limiares de audibilidade apresentaram uma leve piora e a paciente atualmente é pós-graduada e trabalha em uma grande instituição financeira. Conclui-se que o diagnostico neurológico e a intervenção fonoaudiológica precoces possibilitaram o adequado desenvolvimento de linguagem da paciente.


Abstract Mitochondrial myopathy is caused by the absence and/or insufficiency of L-carnitine, a quaternary enzyme responsible for transporting free fatty acids into the mitochondria. The primary function of the mitochondria is to produce energy, contributing to proper cell functioning. Muscular lipidosis causes abnormalities in enzymes that metabolize fat, resulting in the accumulation of harmful amounts of fats in tissues. The aim of this study was to present the case study of patient B.D., a 37-year-old woman diagnosed with muscular lipidosis with L-carnitine deficiency at 6 years old, and describe the speech-language follow-up performed at a hearing care clinic. The first entry in the patient's medical chart was on 03/05/1989, with continuous use of 2g/day of L-carnitine prescribed by a neurologist. The mother reported that B.D. had difficulty hearing and was inattentive, which became more evident when she started school. In 1988 the patient was diagnosed with moderate bilateral sensorineural hearing loss and began using behind-the-ear (BTE) hearing aids in 1989, after which her academic performance and communication improved. In 1998 she switched to Completely in Canal (CIC) hearing aids, which are more discreet, provided better sound localization and greater high frequency gain, although her hearing thresholds worsened slightly. She completed her graduate studies and currently works at a large financial institution. It was concluded that early neurological diagnosis and speech-language intervention enabled adequate language development in the patient.


Subject(s)
Humans , Female , Child , Adult , Sound Localization , Speech Perception , Mitochondrial Myopathies/complications , Hearing Aids , Hearing Loss, Sensorineural , Hearing Loss, Bilateral
7.
Article in Chinese | WPRIM | ID: wpr-888364

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a Chinese pedigree affected with progressive non-syndromic sensorineural hearing loss.@*METHODS@#High-throughput DNA sequencing was carried out to analyze 415 genes associated with hereditary deafness in the proband. Sanger sequencing was carried out to verify the suspected variants among her family members.@*RESULTS@#The proband was found to carry a heterozygous c.842T>A (p.Ile281Asn) variant of the POU4F3 gene. The same variant was found among all other patients from the pedigree including the proband's mother, brother, aunt and maternal grandfather, but not among those with normal hearing. Based on the standards and guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, the c.842T>A(p.Ile281Asn) variant of the POU4F3 gene was predicted as likely pathogenic (PM2+PM5+PP1+PP3+PP4).@*CONCLUSION@#A Chinese pedigree affected by a rare type autosomal dominant deafness-15 (DFNA15) due to a novel c.842T>A (p.Ile281Asn) variant of the POU4F3 gene was identified. The result has facilitated genetic counseling and risk assessment for the pedigree.


Subject(s)
China , Deafness/genetics , Female , Genetic Testing , Hearing Loss, Sensorineural/genetics , Humans , Male , Mutation , Pedigree
8.
Article in Chinese | WPRIM | ID: wpr-879601

ABSTRACT

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


Subject(s)
Deafness/genetics , Hearing Loss, Sensorineural/genetics , Heterozygote , Humans , Microfilament Proteins/genetics , Mutation , Pedigree , Whole Exome Sequencing
9.
Article in Chinese | WPRIM | ID: wpr-879569

ABSTRACT

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with MEGDEL syndrome.@*METHODS@#Clinical data of the child was reviewed. Peripheral blood samples of the child and his parents were collected. Mitochondrial genome and the whole exome of the child were analyzed by next-generation sequencing. Candidate variants and its origin were verified by Sanger sequencing and fluorescence quantitative PCR.@*RESULTS@#The patient, a 2-year-and-6-month-old male, has featured hypoglycemia, mental and motor retardation with regression. Cranial MRI showed bilateral putamen damage suggestive of Leigh syndrome. Testing of urine organic acid indicated that the level of 3-methylpentenoic acid was slightly increased. Whole exome sequencing revealed that the child has harbored heterozygous deletion of exons 6 to 17 and c.307A>T nonsense variant of the SERAC1 gene, which were respectively inherited from his parents who were asymptomatic. Treatment with Levocarnitine, vitamin B1, vitamin B2, coenzyme Q10, baclofen and glucuronolactone resulted in improvement of sleep and mental state.@*CONCLUSION@#A case of MEGDEL syndrome without deafness was diagnosed. Discovery of the nonsense mutation and large fragment deletion have enriched the spectrum of SERAC1 gene variants.


Subject(s)
Child, Preschool , Hearing Loss, Sensorineural/genetics , Humans , Leigh Disease , Male , Metabolism, Inborn Errors/genetics , Molecular Biology , Mutation
10.
Article in Chinese | WPRIM | ID: wpr-879549

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL).@*METHODS@#Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree.@*RESULTS@#The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree.@*CONCLUSION@#The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.


Subject(s)
Age of Onset , China , Hearing Loss, Sensorineural/genetics , Humans , Male , Mutation , Pedigree , Receptors, Estrogen/genetics
11.
Rev. Ciênc. Méd. Biol. (Impr.) ; 19(4): 636-641, dez 30, 2020. tab
Article in Portuguese | LILACS | ID: biblio-1355296

ABSTRACT

Introdução: Doença falciforme (DF) engloba um conjunto de hemoglobinopatias marcadas pela hemoglobina (Hb) anormal S (HbS). A HbS possui um formato de foice e aumento de rigidez, culminando em hemólise. Além disso, dificulta a passagem pela microcirculação sanguínea, causando vaso-oclusão e lesão isquêmica em diversos órgãos e tecidos. Na orelha interna, tem sido descrita como os responsável por danos auditivos. Objetivo: apresentar um relato de caso de paciente do sexo feminino com doença falciforme, acometida de perda auditiva sensorioneural (PASN) bilateral assimétrica. Relato do caso: paciente do sexo feminino, destra, 45 anos, compareceu para avaliação, queixando se de diminuição da audição e zumbido na orelha esquerda. Foi submetida à avaliação audiológica, constituída por audiometria tonal limiar, logoaudiometria, imitanciometria, emissões otoacústicas por produto de distorção (EOAPD) e potencial evocado auditivo do tronco encefálico (PEATE). Resultados: constatou-se: perda auditiva sensorioneural bilateral de grau leve na orelha direita e severo na orelha esquerda; presença dos reflexos estapedianos contralaterais na orelha direita e ausência na orelha esquerda; curvas timpanométricas tipo A; ausência de emissões otoacústicas bilateralmente; e os potenciais auditivos evocados do tronco encefálico dentro dos padrões de normalidade. Discussão: diversos mecanismos estão envolvidos na relação DF e PASN, como a falta de oxigenação e infarto do órgão de Corti, hemorragia labiríntica e labirintite ossificante, bem como uma associação entre o nível de viscosidade sanguínea, disfunção endotelial e hipertensão sistêmica. E ainda deve ser considerada a questão de dominância hemisférica na assimetria da perda. Conclusão: os conhecimentos sobre as características dos danos auditivos na HbSC ainda não são conclusivos e merecem mais investigações. A implementação de avaliações periódicas da função auditiva tem contribuído para prevenir a progressão dos danos e auxiliado no tratamento precoce.


Introduction: Sickle cell disease (SCD) comprises a set of hemoglobinopathies marked by abnormal hemoglobin (Hb) S (HbS). HbS has a sickle shape and increased stiffness culminating in hemolysis, in addition to making it difficult to pass through the blood microcirculation, causing vessel-occlusion and ischemic damage in various organs and tissues. In the inner ear, they have been described as responsible for hearing damage. Objective: describing a case report of a female patient with sickle cell disease affected by asymmetric bilateral sensorineural hearing loss (SNHL). Case report: a 45-year-old female patient, right-handed, came for evaluation, complaining of decreased hearing and tinnitus in her left ear. She underwent audiological evaluation consisting of pure tone audiometry, logoaudiometry, immittance testing, distortion product otoacoustic emissions (DPOAE) and brainstem auditory evoked potential (BAEP). Results: bilateral mild sensorineural hearing loss in the right ear and severe in the left ear, presence of contralateral stapedial reflexes in the right ear and absence in the left ear, type A tympanometric curves, absence of bilateral otoacoustic emissions and the brainstem auditory evoked potentials within the normality patterns. Discussion: Several mechanisms are involved in the SCD and SNHL relationship, such as the lack of oxygen and infarction of the Organ of Corti, labyrinthine hemorrhage and ossifying labyrinthitis, as well as an association between the level of blood viscosity, endothelial dysfunction and systemic hypertension. And the question of hemispheric dominance in the loss asymmetry must still be considered. Conclusion: knowledge about the characteristics of hearing damage in HbSC is not yet conclusive and deserves further investigation. Implementation of periodic auditory function assessments has helped to prevent the progression of damage and has helped in early treatment.


Subject(s)
Humans , Female , Adult , Audiometry , Hearing Loss, Sensorineural , Hemoglobinopathies , Anemia, Sickle Cell , Case Reports
12.
Braz. j. otorhinolaryngol. (Impr.) ; 86(6): 767-773, Nov.-Dec. 2020. tab, graf
Article in English | LILACS | ID: biblio-1142594

ABSTRACT

Abstract Introduction: Acute otitis media is a disease with high global prevalence, that can lead to several acute complications and auditory sequelae. Data regarding the auditory evaluation in the acute phase of acute otitis media are scarce. Objective: To evaluate the main audiometric changes (air and bone conduction thresholds) in the initial phase of an acute otitis media episode. Methods: A case-control study was performed. Patients diagnosed with acute otitis media with less than 7 days of evolution in relation to the complaint onset were selected, and healthy volunteers were selected as controls. The acute otitis media and control groups were submitted to pure tone and vocal audiometry. Results: The acute otitis media group included a total of 27 patients (30 ears). Hearing loss was present in 90.0% of the ears with acute otitis media, with conductive loss in 14 (46.67%) and mixed loss in 13 (43.33%). Both the air and bone conduction thresholds obtained with the tonal audiometry in the acute otitis media group were significantly worse than the controls at all tested frequencies (p< 0.05). In patients with acute otitis media, we observed that the thresholds for frequency >1 kHz (bone conduction) and 3 kHz (air conduction) were significantly worse in patients with tinnitus compared to patients without tinnitus. Conclusion: During the first 7 days of evolution after the onset of an isolated episode of acute otitis media, we observed significant increases in bone and air thresholds at all frequencies, especially >2 kHz, compared to healthy ears.


Resumo Introdução: A otite média aguda é uma doença de elevada incidência global, que pode levar a diversas complicações agudas e sequelas auditivas. Dados referentes à avaliação auditiva na fase aguda da otite média aguda são escassos. Objetivo: Avaliar as principais alterações audiométricas (limiares em via aérea e óssea) na fase inicial de um episódio de otite média aguda. Método: Realizou-se estudo de caso-controle. Selecionamos pacientes com diagnóstico de otite média aguda, com menos de sete dias de evolução em relação ao início das queixas, e voluntários saudáveis foram selecionados como controles. Os grupos otite média aguda e controle foram submetidos a audiometria tonal, vocal e audiometria. Resultados: O grupo otite média aguda incluiu 27 pacientes (30 orelhas). Observou-se presença de perda auditiva em 90% das orelhas com otite média aguda, condutiva em 14 (46,67%) e mista em 13 (43,33%). Tanto os limiares auditivos por via aérea quanto os limiares por via óssea obtidos com audiometria tonal do grupo otite média aguda eram significativamente piores em relação aos controles, em todas as frequências testadas (p < 0,05). Em pacientes com otite média aguda, observamos que os limiares das frequências acima de 1 kHz (via óssea) e 3 kHz (via aérea) eram significantemente piores entre pacientes com zumbido em comparação a pacientes sem zumbido. Conclusão: Nos primeiros sete dias de evolução do quadro inicial de um episódio isolado de otite média aguda, observamos aumentos significativos dos limiares ósseos e aéreos em todas as frequências, principalmente nas acima de 2 kHz, em comparação a orelhas sadias.


Subject(s)
Humans , Otitis Media/complications , Hearing Loss, Sensorineural/etiology , Audiometry, Pure-Tone , Auditory Threshold , Bone Conduction , Case-Control Studies
13.
Braz. j. otorhinolaryngol. (Impr.) ; 86(5): 558-567, Sept.-Oct. 2020. tab, graf
Article in English | LILACS | ID: biblio-1132638

ABSTRACT

Abstract Introduction: Hearing aid users reject their own hearing aid because of annoyance with background noise. The reason for dissatisfaction is located anywhere from the hearing aid microphone to the integrity of neurons along the auditory pathway. In this preview, the output of hearing aid was recorded at the level of ear canal and at auditory cortex in good and poor hearing aid users, who were classified using acceptable noise level. Objective: To study the representation of amplified speech in good and poor hearing aid performers. Methods: A total of 60 participants (age ranged 15-65 years) with moderate bilateral sensorineural hearing impairment grouped into good (n = 35) and poor (n = 25) hearing aid performers. Gap detection test and aided SNR 50 were administered. In addition, ear canal acoustic measures and cortical auditory evoked potentials were recorded in unaided and aided conditions at 65 dB SPL. Results: Hearing aid minimally alters temporal contrast of speech reflected in envelope difference index. Although having similar temporal impairment, acoustic characteristics of amplified speech sounds and SNR 50 scores from both groups, the aided cortical auditory evoked potentials surprisingly showed significant earlier latencies and higher amplitudes in good performers than poor performers. In addition, good and poor performers classified based on annoyance level was predicted by latencies of 2N1 and 2P2 components of acoustic change complex. Further, a follow-up revealed hearing aid use has relation with acceptance towards noise. Conclusion: Participants who are willing to accept noise from those who are not willing to accept noise have subtle physiological changes evident at the auditory cortex, which supports the hearing aid usage.


Resumo Introdução: Usuários de aparelhos auditivos rejeitam seu próprio aparelho pelo incômodo relacionado ao ruído de fundo. O motivo da insatisfação varia desde o microfone do aparelho auditivo até a integridade dos neurônios ao longo da via auditiva. Nesta análise prévia, a saída da prótese auditiva foi registrada no nível do meato auditivo externo e no córtex auditivo em bons e maus usuários de prótese auditiva, que foram classificados com um nível de ruído aceitável. Objetivo: Estudar a representação da fala amplificada em bons e maus usuários de aparelhos auditivos. Método: Foram examinados 60 participantes (de 15 a 65 anos) com deficiência auditiva neurossensorial bilateral moderada divididos em bons (n = 35) e maus (n = 25) usuários de aparelhos auditivos. Teste de detecção de gap e SNR 50 assistido foi administrado. Além disso, as medidas acústicas do meato externo e os potenciais evocados auditivos corticais foram registrados em condições não assistida e assistida a 65 dB NPS. Resultados: O aparelho auditivo altera minimamente o contraste temporal da fala, refletido no envelope difference index. Embora tenham uma deficiência temporal similar, as características acústicas de sons de fala amplificados e escores do SNR 50 de ambos os grupos, os potenciais evocados auditivos corticais assistidos surpreendentemente demonstraram latências iniciais significativas e maiores amplitudes em bons do que em maus usuários. Além disso, os bons em comparação com os maus usuários, classificados com base no nível de incômodo, foram previstos pelas latências dos componentes 2N1 e 2P2 do complexo de alteração acústica. Além disso, os resultados do seguimento revelaram que o uso de aparelhos auditivos têm relação com a aceitação do ruído. Conclusão: Os participantes dispostos a aceitar o ruído, quando comparados com aqueles que não estão dispostos a aceitá-lo, apresentam evidência de sutis alterações fisiológicas no córtex auditivo, que apoiam o uso da prótese auditiva.


Subject(s)
Humans , Adolescent , Adult , Middle Aged , Aged , Young Adult , Speech Perception , Hearing Aids , Speech , Hearing Loss, Sensorineural , Noise
15.
Braz. j. otorhinolaryngol. (Impr.) ; 86(3): 327-331, May-June 2020. tab
Article in English | LILACS | ID: biblio-1132598

ABSTRACT

Abstract Introduction: Deafness is the most frequent sensory deficit in humans. Incidence is estimated at 4:1000 births in Brazil. Specific programs for clinical care of patients with hearing loss are still scarce in Brazil and the issue is an important public health problem. Objective: To determine the frequency of 35delG and D13S1830 mutations in GJB2 and GJB6 genes respectively in patients with non-syndromic sensorineural hearing loss from Minas Gerais, Brazil. Methods: This research involved 53 individuals, who were assessed by a questionnaire for predicting the possibility of non-syndromic deafness and for data collecting. Samples were tested for the presence of the 35delG mutation in GJB2 gene and D13S1830 in GJB6 gene by polymerase chain reaction and restriction enzyme digestion. Results: Epidemiological research has shown that the majority of the subjects are unaware of the etiology and the pathogenesis of hearing loss. In 9 patients (16.98%), 35delG mutation was found in heterozygosis and the allele frequency was estimate to be around 8.5%. Although 9.61% of the patients reported having some degree of consanguinity between the parents and 12.08% reported other cases of deafness in their families, this mutation was not found in homozygosis. The D13S1830 mutation was not found in this study. Conclusion: This research describes for the first time the frequency of the 35delG and D13S1830 mutation in hearing-impaired individuals from Minas Gerais, Brazil, and the collected data reinforce the need for further studies in this population due to heterogeneity of hearing loss.


Resumo Introdução: A surdez é o déficit sensorial mais frequente em humanos. Estima-se que a incidência seja de 4:1.000 nascimentos no Brasil. Programas específicos para atendimento clínico de pacientes com perda auditiva são escassos no Brasil e a questão é um importante problema de saúde pública. Objetivo: Determinar a frequência das mutações 35delG no gene GJB2 e D13S1830 no GJB6 em pacientes deficientes auditivos de origem neurossensorial e não sindrômica de Minas Gerais, Brasil. Método: A pesquisa envolveu 53 indivíduos selecionados por meio de questionário o qual avaliou a possibilidade de surdez não sindrômica entre outros dados. As amostras foram testadas quanto à presença da mutação 35delG no gene GJB2 e D13S1830 no gene GJB6 por reação em cadeia da polimerase e digestão com enzima de restrição. Resultados: A pesquisa epidemiológica mostrou que a maioria dos indivíduos desconhece a etiologia da perda auditiva. Em 9 pacientes (16,98%), a mutação 35delG foi encontrada em heterozigose e a frequência alélica foi estimada em 8,5%. Embora 9,61% das pessoas tenham relatado algum grau de consanguinidade entre os pais e 12,08% relatassem outros casos de surdez em suas famílias, essa mutação não foi encontrada em homozigose. A mutação D13S1830 não foi encontrada neste estudo. Conclusão: Este trabalho descreve pela primeira vez a frequência da mutação 35delG e D13S1830 em deficientes auditivos de Minas Gerais, Brasil, e os dados coletados reforçam a necessidade de mais estudos nessa população devido à heterogeneidade da perda auditiva.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Young Adult , Hearing Loss, Sensorineural/genetics , Mutation/genetics , Polymerase Chain Reaction , Genotype
16.
Braz. j. otorhinolaryngol. (Impr.) ; 86(2): 180-184, March-Apr. 2020. tab
Article in English | LILACS | ID: biblio-1132566

ABSTRACT

Abstract Introduction: Sudden hearing loss is a significant otologic emergency. Previous studies have revealed a coexistence of sudden hearing loss with chronic inflammation. The predictive importance of C-reactive protein/albumin values as a prognostic factor has been shown in various inflammatory and tumoral conditions. Objectives: The aim of this study was to determine whether the C-reactive protein/albumin ratio in sudden hearing loss can be used for prognostic purposes and whether there is a relationship between the neutrophil/lymphocyte ratio and the C-reactive protein/albumin ratio. Methods: A retrospective examination was made of 40 patients diagnosed with idiopathic sudden hearing loss and a control group of 45 healthy subjects. The pure tone averages of all the patients were determined on first presentation and repeated at 3 months after the treatment. The patients were separated into 2 groups according to the response to treatment. The neutrophil/lynphocyte ratio and the C-reactive protein/albumin ratios were calculated from the laboratory tests. Results: The patients included 16 females and 24 males with a mean age of 44.1 ± 14.2 years and the control group was composed of 23 females and 22 males with a mean age of 42.2 ± 13.8 years. The mean C-reactive protein/albumin ratio was 0.95 ± 0.47 in the patient group and 0.74 ± 0.13 in the control group. The difference was statistically significant (p = 0.009). The mean C-reactive protein/albumin ratio was 0.79 ± 0.12 in the response to treatment group and 1.27 ± 0.72 in the non-response group, with no significant difference determined between the groups (p = 0.418). The mean neutrophil/lymphocyte ratio was 3.52 ± 3.00 in the response to treatment group and 4.90 ± 4.60 in the non-response group, with no statistically significant difference determined between the groups (p = 0.261). Conclusion: C-reactive/albumin ratio was significantly higher in patients with sudden hearing loss than in the control group. Although C-reactive protein/albumin ratio was found to be lower in sudden hearing loss patients who responded to treatment compared to those who did not, the difference between two groups was not statistically significant.


Resumo Introdução: A perda auditiva neurossensorial súbita ou surdez súbita é uma emergência otológica significativa. Estudos anteriores revelaram uma coexistência dessa condição com inflamação crônica. A importância preditiva dos valores da relação proteína C-reativa/albumina como fator prognóstico tem sido demonstrada em várias condições inflamatórias e tumorais. Objetivos: O objetivo deste estudo foi determinar se a relação proteína C-reativa/albumina na perda auditiva neurossensorial súbita pode ser usada para fins prognósticos e se existe uma associação entre as relações neutrófilo/linfócito e proteína C-reativa/albumina. Método: Foram avaliados retrospectivamente 40 pacientes com diagnóstico de perda auditiva neurossensorial súbita idiopática e um grupo controle de 45 indivíduos saudáveis. As médias de tons puros de todos os pacientes foram determinadas na primeira consulta e repetidas 3 meses após o tratamento. Os pacientes foram separados em 2 grupos de acordo com a resposta ao tratamento. As relações neutrófilo/linfócito e proteína C-reativa/albumina foram calculadas a partir de testes laboratoriais. Resultados: Os pacientes incluíam 16 mulheres e 24 homens, com média de 44,1 ± 14,2 anos, e o grupo controle por 23 mulheres e 22 homens, com média de 42,2 ± 13,8 anos. A média da relação proteína C-reativa/albumina foi de 0,95 ± 0,47 no grupo de pacientes e de 0,74 ± 0,13 no grupo controle e a diferença foi estatisticamente significante (p = 0,009). A média da relação proteína C-reativa/albumina foi de 0,79 ± 0,12 do grupo com resposta ao tratamento e de 1,27 ± 0,72 no grupo sem resposta, sem diferença significante entre os grupos (p = 0,418). A média da relação neutrófilo/linfócito foi de 3,52 ± 3,00 no grupo com resposta ao tratamento e de 4,90 ± 4,60 no grupo sem resposta, sem diferença estatisticamente significativa entre os grupos (p = 0,261). Conclusão: A relação proteína C-reativa/albumina foi significantemente maior nos pacientes com perda auditiva neurossensorial súbita do que no grupo controle. No entanto, embora a relação proteína C-reativa/albumina tenha sido menor nos pacientes com perda auditiva neurossensorial súbita que responderam ao tratamento em comparação a aqueles que não apresentaram resposta, a diferença entre os dois grupos não foi estatisticamente significante.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , C-Reactive Protein/analysis , Methylprednisolone/therapeutic use , Hearing Loss, Sudden/drug therapy , Hearing Loss, Sudden/blood , Hearing Loss, Sensorineural/drug therapy , Hearing Loss, Sensorineural/blood , Prognosis , Serum Albumin/analysis , Biomarkers/blood , Case-Control Studies , Predictive Value of Tests , Retrospective Studies , Treatment Outcome , Lymphocyte Count , Neutrophils
17.
Int. arch. otorhinolaryngol. (Impr.) ; 24(1): 47-52, Jan.-Mar. 2020. graf
Article in English | LILACS | ID: biblio-1090559

ABSTRACT

Abstract Introduction Cisplatin damages the auditory system and is related to the generation of free radicals. Glutathione peroxidase is an endogenous free radicals remover. Objective To investigate the mechanisms involved in otoprotection by N-acetylcys- teine through the expression of glutathione peroxidase in outer hair cells from rats treated with cisplatin. Methods Male Wistar rats were intraperitoneally injected with cisplatin (8 mg/Kg) and/or received oral administration by gavage of N-acetylcysteine (300 mg/Kg) for 3 consecutive days. On the 4th day, the animals were euthanized and beheaded. The tympanic bullae were removed and prepared for scanning electron microscopy and Results Among the groups exposed to ototoxic doses of cisplatin, there was an increase in glutathione peroxidase immunostaining in two groups, the one exposed to cisplatin alone, and the group exposed to both cisplatin and N-acetylcysteine. Conclusion The expression of glutathione peroxidase in the outer hair cells of rats exposed to cisplatin showed the synthesis of this enzyme under cellular toxicity conditions.


Subject(s)
Animals , Male , Acetylcysteine/therapeutic use , Free Radical Scavengers/therapeutic use , Cisplatin/toxicity , Oxidative Stress/drug effects , Antineoplastic Agents/toxicity , Acetylcysteine/metabolism , Acetylcysteine/pharmacology , Microscopy, Electron, Scanning , Evoked Potentials, Auditory, Brain Stem , Free Radical Scavengers/metabolism , Free Radical Scavengers/pharmacology , Fluorescent Antibody Technique , Cisplatin/therapeutic use , Rats, Wistar , Cochlea/anatomy & histology , Cochlea/drug effects , Free Radicals , Glutathione Peroxidase/metabolism , Hearing Loss, Sensorineural/prevention & control
18.
Int. arch. otorhinolaryngol. (Impr.) ; 24(1): 5-10, Jan.-Mar. 2020. tab
Article in English | LILACS | ID: biblio-1090555

ABSTRACT

Abstract Introduction The cochlea and the vestibular receptors are closely related in terms of anatomy and phylogeny. Patients with moderate to profound sensorineural hearing loss (MPSHL) should have their vestibular organ functions tested. Objective To evaluate the incidence of vestibular abnormalities in patients with MPSHL and to study the correlation between the etiology of hearing loss (HL) and a possible damage to the labyrinth. Methods A case-control retrospective study was performed. In the case group, 20 adults with MPSHL of known etiology were included. The control group was composed of 15 adults with normal hearing. The case group was divided into 4 subgroups based on the etiology (bacterial meningitis, virus, vascular disease, congenital). Cervical vestibular-evoked myogenic potentials (cVEMPs) were used to rate the saccular function and lower vestibular nerve. Results The study was performed in 70 ears, and it highlighted the presence of early biphasic P1-N1 complex in 29 (71.5%) out of 40 ears in the study group, and in all of the 30 ears in the control group (p = 0.001). Regarding the presence or absence of cVEMPs among the four subgroups of patients with MPSHL, the data were statistically significant (p < 0.001). The comparison between the latencies and amplitude of P1-N1 in case and control groups from other studies and in the four subgroups of cases in the present study did not detect statistically significant differences. Conclusion The present study demonstrates that patients with MPSHL have a high incidence of damage to the labyrinthine organs, and it increases the current knowledge about the etiopathogenesis of sensorineural HL, which is often of unknown nature.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Vestibular Evoked Myogenic Potentials , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/etiology , Hearing Loss, Sensorineural/physiopathology , Audiometry, Pure-Tone , Vascular Diseases/complications , Virus Diseases/complications , Case-Control Studies , Vestibular Diseases/diagnosis , Vestibular Diseases/epidemiology , Incidence , Retrospective Studies , Meningitis, Bacterial/complications , Hearing Loss, Sensorineural/congenital , Labyrinth Diseases/diagnosis , Labyrinth Diseases/physiopathology , Labyrinth Diseases/epidemiology
19.
Rev. Assoc. Med. Bras. (1992) ; 66(1): 74-80, Jan. 2020. tab, graf
Article in English | LILACS | ID: biblio-1091899

ABSTRACT

SUMMARY OBJECTIVE This study aims to investigate the application value of magnetic resonance (MR) hydrography of the inner ear in cochlear implantation. METHODS 146 patients were enrolled. MR hydrography and spiral CT examinations for the intracranial auditory canal were performed before surgery, and all imaging results were statistically analyzed in order to explore the application value of MR hydrography of the inner ear in cochlear implantation. RESULTS 146 patients (292 ears) were examined. Among these patients, 13 were diagnosed with abnormal vestibular aqueducts (20 ears) by MR hydrography, while five were diagnosed with this disease by CT; 15 patients were diagnosed with inner ear malformation (19 ears) by MR hydrography, while 11 were diagnosed by CT (four were misdiagnosed); five patients were diagnosed with internal acoustic canal stenosis (eight ears) by MR hydrography, while two were diagnosed by CT (three were misdiagnosed); and four patients were diagnosed with cochlear fibrosis (five ears) by MR hydrography, while four were diagnosed by CT (four ears). The correct rate of diagnosis was 77.40% (113/146) based on CT, while the rate was 93.84% (137/146) based on MR hydrography. CONCLUSIONS MR hydrography imaging technique can be applied to the preoperative evaluation of cochlear implantation, providing accurate and reliable anatomic information on the inner membranous labyrinth and nerves in the internal acoustic canal and an accurate basis for the diagnosis of cochlear fibrosis and nerve development. This has a guiding significance for the selection of treatment schemes.


RESUMO OBJETIVO Este estudo visa investigar o valor da aplicação da hidrografia por ressonância magnética (RM) do ouvido interno no implante coclear. MÉTODOS Cento e quarenta e seis pacientes foram inscritos. Os exames da hidrografia por RM e do CT espiral para o canal auditivo intracraniano foram executados antes da cirurgia, e todos os resultados da imagem foram analisados estatisticamente, a fim de explorar o valor da aplicação da hidrografia por RM do ouvido interno no implante coclear. RESULTADOS Centro e quarenta e seis pacientes (292 ouvidos) foram examinados. Dentre esses pacientes, 13 foram diagnosticados com aquedutos vestibulares anormais (20 ouvidos) pela hidrografia por RM, enquanto cinco pacientes foram diagnosticados com esta doença pelo CT; 15 pacientes foram diagnosticados com malformação do ouvido interno (19 ouvidos) pela hidrografia por RM, enquanto 11 pacientes foram diagnosticados por CT (quatro foram diagnosticados erroneamente); cinco pacientes foram diagnosticados com estenose de canal acústico interno (oito ouvidos) pela hidrografia por RM, enquanto dois pacientes foram diagnosticados por CT (três foram diagnosticados erroneamente); e quatro pacientes foram diagnosticados com fibrose coclear (cinco ouvidos) pela hidrografia por RM, enquanto quatro foram diagnosticados por CT (quatro ouvidos). A taxa correta de diagnóstico foi de 77,40% (113/146) com base no CT, enquanto a taxa foi de 93,84% (137/146) com base na hidrografia por RM. CONCLUSÕES A técnica de imagem da hidrografia por RM pode ser aplicada à avaliação pré-operatória do implante coclear, que pode fornecer informações anatômicas precisas e confiáveis sobre o labirinto membranoso interno e os nervos no canal acústico interno, além de uma base exata para o diagnóstico da fibrose coclear e do desenvolvimento do nervo. Isso tem um significado orientador para a seleção de esquemas de tratamento.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Young Adult , Magnetic Resonance Imaging/methods , Cochlear Implantation/methods , Ear, Inner/diagnostic imaging , Reference Values , Reproducibility of Results , Tomography, Spiral Computed/methods , Preoperative Period , Hearing Loss, Sensorineural/surgery , Hearing Loss, Sensorineural/diagnostic imaging , Ear, Inner/surgery , Labyrinth Diseases/surgery , Labyrinth Diseases/diagnostic imaging , Middle Aged
20.
Audiol., Commun. res ; 25: e2309, 2020. tab
Article in Portuguese | LILACS | ID: biblio-1142383

ABSTRACT

RESUMO Objetivo Caracterizar as avaliações seqüenciais do potencial evocado auditivo de tronco encefálico em recém-nascidos infectados pelo Zika vírus, correlacionando com a presença de microcefalia e com os sintomas de Zika nas mães durante a gestação. Métodos Estudo descritivo, longitudinal e quantitativo, do qual participaram 20 recém-nascidos, filhos de mães infectadas pelo Zika vírus no período gestacional. Foram analisados os prontuários desses bebês, que passaram por duas avaliações eletrofisiológicas, uma no primeiro mês de vida e outra, após 6 meses. Os dados comparativos foram tabulados e analisados por meio de estatística descritiva e inferencial. Resultados Setenta por cento dos bebês apresentaram microcefalia e 55% das mães tiveram os sintomas da infecção pelo Zika no primeiro trimestre de gestação. Não houve alteração significativa dos limiares eletrofisiológicos em nenhum dos momentos. Houve mudança estatisticamente significativa, principalmente das latências das ondas III e V, entre os exames, caracterizando maturação da via auditiva nos bebês. Não foi encontrada correlação entre a microcefalia e alterações nas latências do PEATE. Conclusão Bebês portadores de Zika apresentaram limiares eletrofisiológicos dentro da normalidade e diminuição das latências absolutas das ondas III e V e interpicos, confirmando a ação citotóxica do Zika. Houve dois casos de piora significativa do limiar eletrofisiológico. Não foi observada correlação entre resultados do PEATE e época de aparecimento dos sintomas durante a gestação, ou a presença de microcefalia.


ABSTRACT Purpose To characterize sequential assessments of auditory brainstem responses in newborns infected by zika virus, correlating with presence of microcephaly and with Zika virus symptoms in mothers during pregnancy. Methods A descriptive, longitudinal and quantitative study, in which 20 newborns, children of mothers infected by Zika virus during pregnancy, participated. Medical records of these babies were analyzed, and they underwent two electrophysiological assessments, one in the first month of life and the other, after 6 months. Comparative data were tabulated and analyzed using descriptive and inferential statistics. Results Seventy percent of babies had microcephaly and 55% of mothers had symptoms of Zika infection in the first trimester of pregnancy. There was no significant alteration in electrophysiological thresholds at any moments. There was a statistically significant change, mainly in the latencies of waves III and V, between the tests, characterizing maturation of the auditory pathway in babies. No correlation was found between microcephaly and changes in ABR latencies. Conclusion Babies with Zika had normal electrophysiological thresholds and decreased absolute latencies of waves III and V and interpeaks, confirming the cytotoxic action of Zika. There were two cases of significant worsening of the electrophysiological threshold. There was no correlation between ABR results and time of onset of the symptoms during pregnancy, or presence of microcephaly.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Infant , Retrocochlear Diseases/diagnosis , Evoked Potentials, Auditory, Brain Stem/physiology , Zika Virus Infection/complications , Microcephaly/physiopathology , Pregnancy Trimester, First , Acoustic Stimulation , Brazil , Neonatal Screening , Electrophysiology , Hearing Loss, Sensorineural
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