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1.
Am J Med Genet A ; 188(5): 1578-1582, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35084080

RESUMO

Previously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip dysplasia, elliptocytosis and cleft palate. In this report, we present three female relatives of a male fetus with an intragenic deletion in this X-linked gene. All three women reported hearing loss and one was born with a soft cleft palate and hip dysplasia. The audiograms showed mild to moderate SNHL with a variable pattern of the affected frequencies. Immunohistochemical analysis of fetal cochlea was performed confirming the expression of AMMECR1 in the human inner ear. Since hearing loss, cleft palate and congenital hip dysplasia were reported before in male AMMECR1 point mutation carriers and AMMECR1 is expressed in fetal inner ear, we suggest that female carriers may display a partial phenotype in this X-linked condition.


Assuntos
Fissura Palatina , Surdez , Eliptocitose Hereditária , Perda Auditiva Neurossensorial , Perda Auditiva , Luxação Congênita de Quadril , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Eliptocitose Hereditária/genética , Feminino , Perda Auditiva/genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Humanos , Masculino , Proteínas/genética
2.
Hum Genet ; 138(1): 61-72, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30535804

RESUMO

ATP2B2 encodes the PMCA2 Ca2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca2+ from the stereocilia to the endolymph. Several mouse models have been described for this gene; mice heterozygous for loss-of-function defects display a rapidly progressive high-frequency hearing impairment. Up to now ATP2B2 has only been reported as a modifier, or in a digenic mechanism with CDH23 for hearing impairment in humans. Whole exome sequencing in hearing impaired index cases of Dutch and Polish origins revealed five novel heterozygous (predicted to be) loss-of-function variants of ATP2B2. Two variants, c.1963G>T (p.Glu655*) and c.955delG (p.Ala319fs), occurred de novo. Three variants c.397+1G>A (p.?), c.1998C>A (p.Cys666*), and c.2329C>T (p.Arg777*), were identified in families with an autosomal dominant inheritance pattern of hearing impairment. After normal newborn hearing screening, a rapidly progressive high-frequency hearing impairment was diagnosed at the age of about 3-6 years. Subjects had no balance complaints and vestibular testing did not yield abnormalities. There was no evidence for retrocochlear pathology or structural inner ear abnormalities. Although a digenic inheritance pattern of hearing impairment has been reported for heterozygous missense variants of ATP2B2 and CDH23, our findings indicate a monogenic cause of hearing impairment in cases with loss-of-function variants of ATP2B2.


Assuntos
Biomarcadores/análise , Predisposição Genética para Doença , Perda Auditiva/genética , Mutação , ATPases Transportadoras de Cálcio da Membrana Plasmática/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Seguimentos , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Prognóstico , Adulto Jovem
3.
Ear Hear ; 39(5): 1008-1014, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29642089

RESUMO

OBJECTIVES: This study determined the relationship between preoperative phoneme and word scores and the gain in speech perception after cochlear implantation in a large cohort of patients. The authors aimed to define evidence-based selection criteria for cochlear implantations in adults with postlingual deafness. DESIGN: This retrospective study included 364 adults with postlingual deafness who received a cochlear implant between 2000 and 2013 at the Leiden University Medical Center. The gain in speech perception observed postimplantation was compared with preoperative-aided/binaural speech perception scores, measured at 65 dB SPL in quiet. Patients who showed preoperative phoneme scores on monosyllabic words above 50% were also tested for speech perception in the presence of speech-shaped background noise, at a +5 dB signal to noise ratio. RESULTS: Speech perception in quiet improved after implantation in all except 7 patients. Average scores in quiet continued to improve, up to approximately 1 year after implantation. When participants were divided into five groups, based on preoperative speech perception scores, all groups showed gains in speech perception, except for the group with aided preoperative phoneme scores above 80%. However, all patients who were tested preoperatively with the addition of background noise showed improvements in speech perception in noise after the cochlear implantation. CONCLUSIONS: Although the decision to implant should consider individual ear differences and other factors that might apply to a particular case, based on our data, all patients with preoperative scores of either 80% (phonemes correct) or 60% (words correct) and lower in an optimal-aided situation are potential candidates for a cochlear implant, provided that their preoperative speech perception score decreases below 50% (phonemes correct) or 20% (words correct), when background noise is added at a +5 dB signal to noise ratio.


Assuntos
Implantes Cocleares , Surdez/reabilitação , Percepção da Fala , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Implante Coclear , Surdez/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ruído , Mascaramento Perceptivo , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
4.
Audiol Res ; 14(3): 401-411, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38804458

RESUMO

Despite the spread of novel-generation cochlear-implant (CI) magnetic systems, access to magnetic resonance imaging (MRI) for CI recipients is still limited due to safety concerns. The aim of this study is to assess and record the experiences of Hires Ultra 3D (Advanced Bionics) recipients who underwent an MRI examination. A multicentric European survey about this topic was conducted focusing on safety issues, and the results were compared with the current literature. We collected a total of 65 MRI scans performed in 9 otologic referral centers for a total of 47 Hires Ultra 3D recipients, including, for the first time, 2 children and 3 teenagers. Preventive measures were represented by scanning time and sedation for children. Head wrapping was used in eight cases, and six of the eight cases received local anesthesia, even if both measures were not needed. Only three patients complained of pain (3/65 examinations, 4.6%) due to the tight head bandage, and one of the three cases required MRI scan interruption. No other adverse events were reported. We believe that these results should encourage MRI execution in accordance with manufacturer recommendations for Ultra 3D recipients.

5.
Audiol Neurootol ; 15(2): 128-36, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19690406

RESUMO

OBJECTIVES: To analyse the speech perception performance of 53 cochlear implant recipients with otosclerosis and to evaluate which factors influenced patient performance in this group. The factors included disease-related data such as demographics, pre-operative audiological characteristics, the results of CT scanning and device-related factors. METHODS: Data were reviewed on 53 patients with otosclerosis from 4 cochlear implant centres in the United Kingdom and the Netherlands. Comparison of demographics, pre-operative CT scans and audiological data revealed that the patients from the 4 different centres could be considered as one group. Speech perception scores had been obtained with the English AB monosyllable tests and Dutch NVA monosyllable tests. Based on the speech perception scores, the patients were classified as poor or good performers. The characteristics of these subgroups were compared. RESULTS: There was wide variability in the speech perception results. Similar patterns were seen in the phoneme scores and BKB sentence scores between the poor and good performers. The two groups did not differ in age at onset of hearing loss, duration of hearing loss, progression, age at onset of deafness, or duration of deafness. CONCLUSIONS: The clinical presentation of the otosclerosis (rapid or slow progression) did not influence speech perception. Better performance was related to less severe signs of otosclerosis on CT scan, full insertion of the electrode array, little or no facial nerve stimulation and little or no need to switch off electrodes.


Assuntos
Implante Coclear , Otosclerose/reabilitação , Teste do Limiar de Recepção da Fala , Adolescente , Adulto , Idade de Início , Idoso , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos , Otosclerose/diagnóstico , Otosclerose/cirurgia , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/reabilitação , Desenho de Prótese , Cirurgia do Estribo , Tomografia Computadorizada por Raios X , Reino Unido , Adulto Jovem
6.
Dev Med Child Neurol ; 51(6): 454-9, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19207297

RESUMO

AIM: To investigate whether drooling in children with cerebral palsy (CP) in general and in CP subtypes is due to hypersalivation. METHOD: Saliva was collected from 61 healthy children (30 males, mean age 9y 5mo [SD 11mo]; 31 females, mean age 9y 6mo [1y 2mo]) and 100 children with CP who drooled (57 males, mean age 9y 5mo [3y 11mo], range 3-19y; 43 females, mean age 10y 1mo [4y 9mo], range 4-19y), of whom 53 had spastic, 42 had dyskinetic, and five had ataxic CP. Almost all children were affected bilaterally, and 90 of them were at Gross Motor Function Classification System levels III or higher. The saliva was collected by the swab saliva collection method. The intensity of drooling was evaluated using the drooling quotient. RESULTS: No difference was found in the flow rates, age, or sex between healthy children and children with CP who drooled. On additional subgroup analysis, the flow rates of children with dyskinetic CP differed statistically from those of healthy children (submandibular p=0.047, parotid p=0.040). INTERPRETATION: This study supports the finding in previous studies that no hypersalivation exists in children with CP who drool. Dysfunctional oral motor control seems to be responsible for saliva overflow from the mouth, whereas increased unstimulated salivary flow may occur in children with dyskinetic CP as a result of hyperkinetic oral movements.


Assuntos
Paralisia Cerebral/complicações , Transtornos dos Movimentos/complicações , Sialorreia/complicações , Sialorreia/etiologia , Adolescente , Estudos de Casos e Controles , Paralisia Cerebral/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtornos dos Movimentos/fisiopatologia , Glândula Parótida/metabolismo , Saliva/metabolismo , Sialorreia/fisiopatologia , Glândula Submandibular/metabolismo , Adulto Jovem
7.
JAMA Otolaryngol Head Neck Surg ; 145(5): 431-443, 2019 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-30946449

RESUMO

IMPORTANCE: Imaging used to determine the cause of unilateral sensorineural hearing loss (USNHL) in children is often justified by the high likelihood of detecting abnormalities, which implies that these abnormalities are associated with hearing loss and that imaging has a positive contribution to patient outcome or well-being by providing information on the prognosis, hereditary factors, or cause of hearing loss. OBJECTIVES: To evaluate the diagnostic yield of computed tomography (CT) and magnetic resonance imaging (MRI) in children with isolated unexplained USNHL and investigate the clinical relevance of these findings. EVIDENCE REVIEW: Cochrane Library, Embase, PubMed, and Web of Science databases were searched for articles published from 1978 to 2017 on studies of children with USNHL who underwent CT and/or MRI of the temporal bone. Two authors (F.G.R. and E.N.B.P.) independently extracted information on population characteristics, imaging modality, and the prevalence of abnormalities and assessed the studies for risk of bias. Eligibility criteria included studies with 20 or more patients with USNHL who had CT and/or MRI scans, a population younger than 18 years, and those published in English. MAIN OUTCOMES AND MEASURES: The pooled prevalence with 95% CI of inner ear abnormalities grouped according to finding and imaging modality. FINDINGS: Of 1562 studies, 18 were included with a total of 1504 participants included in the analysis. Fifteen studies were consecutive case studies and 3 were retrospective cohort studies. The pooled diagnostic yield for pathophysiologic relevant findings in patients with unexplained USNHL was 37% for CT (95% CI, 25%-48%) and 35% for MRI (95% CI, 22%-49%). Cochleovestibular abnormalities were found with a pooled frequency of 19% for CT (95% CI, 14%-25%) and 16% for MRI (95% CI, 7%-25%). Cochlear nerve deficiency and associated cochlear aperture stenosis had a pooled frequency of 16% for MRI (95% CI, 3%-29%) and 44% for CT (95% CI, 36%-53%), respectively. Enlarged vestibular aqueduct (EVA) was detected with a pooled frequency of 7% for CT and 12% for MRI in children with USNHL. CONCLUSIONS AND RELEVANCE: Imaging provided insight into the cause of hearing loss in a pooled frequency of about 35% to 37% in children with isolated unexplained USNHL. However, none of these findings had therapeutic consequences, and imaging provided information on prognosis and hereditary factors only in a small proportion of children, namely those with EVA. Thus, there is currently no convincing evidence supporting a strong recommendation for imaging in children who present with USNHL. The advantages of imaging should be carefully balanced against the drawbacks during shared decision making.


Assuntos
Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Unilateral/diagnóstico por imagem , Criança , Pré-Escolar , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/terapia , Perda Auditiva Unilateral/etiologia , Perda Auditiva Unilateral/terapia , Humanos , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X
8.
Audiol Neurootol ; 13(2): 73-85, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18057871

RESUMO

Osteogenesis imperfecta (OI) is a heterogeneous disease of the connective tissue caused by a defective gene that is responsible for the production of collagen type I, leading to defective bone matrix and connective tissue. Hearing loss affects 35-60% of the patients and will progress to deafness in 2-11% of OI patients for whom cochlear implantation may become the only remaining treatment option. Three patients with OI were retrieved from the Nijmegen Cochlear Implant Centre's database. Most of the specific observations in ear surgery on patients with OI, such as brittle scutum, sclerotic thickening of the cochlea, hyperplastic mucosa in the middle ear and persistent bleeding, were encountered in these 3 patients. In case 3, with severe deformities on the CT scan, misplacement of the electrode array into the horizontal semicircular canal occurred. In all 3 cases, programming was hindered by nonauditory stimulation. Even after reimplantation, nonauditory sensations lead to case 3 becoming a nonuser. Averaged electrode voltages in case 3 were deviant in accordance with an abnormally conductive otic capsule. Spatial spread of neural excitation responses in cases 1 and 2 suggested intracochlear channel interaction for several electrodes, often in combination with facial nerve stimulation (FNS). In case 1, the estimated pitch of the electrodes that caused FNS varied consistently. Despite the electrophysiological changes, after 1-year follow-up, open set phoneme scores of 81% and 78% were reached in cases 1 and 2, respectively. When aware and prepared for the specific changes of the temporal bone in OI, cochlear implantation can be a safe and feasible procedure. Preoperative imaging is recommended to be fully informed on the morphology of the petrosal bone. In case of severe deformities on the CT scan, during counseling the possibility of misplacement should be mentioned. Rehabilitation is often hindered by FNS requiring frequent refitting.


Assuntos
Implante Coclear , Perda Auditiva Neurossensorial/reabilitação , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/cirurgia , Telemetria/instrumentação , Adulto , Criança , Diagnóstico Diferencial , Estimulação Elétrica/instrumentação , Eletrofisiologia/instrumentação , Nervo Facial/fisiologia , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Osteogênese Imperfeita/epidemiologia , Otosclerose/diagnóstico por imagem , Otosclerose/patologia , Osso Petroso/diagnóstico por imagem , Osso Petroso/patologia , Cuidados Pré-Operatórios , Percepção da Fala/fisiologia , Tomografia Computadorizada por Raios X
9.
Otol Neurotol ; 38(6): e120-e127, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28498263

RESUMO

OBJECTIVES: Usher syndrome type IIa (USH2a) is characterized by congenital moderate to severe hearing impairment and retinitis pigmentosa. Hearing rehabilitation starts in early childhood with the application of hearing aids. In some patients with USH2a, severe progression of hearing impairment leads to insufficient speech intelligibility with hearing aids and issues with adequate communication and safety. Cochlear implantation (CI) is the next step in rehabilitation of such patients. This study evaluates the performance and benefit of CI in patients with USH2a. DESIGN: Retrospective case-control study to evaluate the performance and benefit of CI in 16 postlingually deaf adults (eight patients with USH2a and eight matched controls). Performance and benefit were evaluated by a speech intelligibility test and three quality-of-life questionnaires. RESULTS: Patients with USH2a with a mean age of 59 years at implantation exhibited good performance after CI. The phoneme scores improved significantly from 41 to 87% in patients with USH2a (p = 0.02) and from 30 to 86% in the control group (p = 0.001). The results of the questionnaire survey demonstrated a clear benefit from CI. There were no differences in performance or benefit between patients with USH2a and control patients before and after CI. CONCLUSIONS: CI increases speech intelligibility and improves quality of life in patients with USH2a.


Assuntos
Implante Coclear/métodos , Qualidade de Vida , Inteligibilidade da Fala , Síndromes de Usher/reabilitação , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Percepção da Fala , Inquéritos e Questionários , Resultado do Tratamento
10.
Otol Neurotol ; 25(3): 308-17, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15129111

RESUMO

OBJECTIVES: To study the surgical aspects and performance outcome of cochlear implantation in children with malformed inner ears. STUDY DESIGN: Clinical and audiometric evaluation in 13 patients. METHODS: Patient data concerning surgery, postoperative follow-up, and pre- and postimplantation audiometry were obtained from the cochlear implant center's database and evaluated. A review of the literature has been included. SETTING: Tertiary referral center. PATIENTS: The patients had a variety of inner ear malformations and profound hearing loss. One patient with recurrent meningitis had a severe cochlear malformation (common cavity). RESULTS: Major complications did not occur. In one patient with an abnormal position of the cochlea and concurring middle ear disease, it was difficult to find the scala tympani during surgery. A cerebrospinal fluid gusher was encountered in two patients and an aberrant facial nerve in another, which did not lead to any complications. The patients with mild cochlear malformation such as an incomplete partition demonstrated a good performance in speech perception tests. Even the child with the common cavity deformity had some open-set speech perception 1 year after implantation. CONCLUSIONS: Viewing the patients from this study and patients from a review of the literature concerning cochlear implantation in children with malformed inner ears including severe cochlear malformations, the occurrence of an aberrant facial nerve was 17%, which increases to 27% if one reviews the surgical findings in children with severe malformed cochleae such as a common cavity or a severe cochlear hypoplasia. In the latter patients, results in speech perception vary. Although the result of cochlear implantation may be promising, as in our patient with a common cavity, during preoperative counseling the child's parents must be informed that the result is uncertain.


Assuntos
Implante Coclear , Implantes Cocleares , Orelha Interna/anormalidades , Perda Auditiva Neurossensorial/terapia , Percepção da Fala , Audiometria , Estudos de Casos e Controles , Criança , Pré-Escolar , Implante Coclear/métodos , Feminino , Seguimentos , Perda Auditiva Neurossensorial/congênito , Humanos , Lactente , Masculino , Tomografia Computadorizada por Raios X , Resultado do Tratamento
11.
Otol Neurotol ; 25(6): 943-52, 2004 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15547424

RESUMO

OBJECTIVES: To collect data from a large number of cochlear implant recipients with otosclerosis and to make an assessment of these patients' clinical characteristics, computed tomographic scans, surgical findings, and complications, and to quantify the occurrence of postoperative facial nerve stimulation. STUDY DESIGN: Retrospective multicenter study. PATIENTS: Fifty-three patients with otosclerosis from four cochlear implant centers in the United Kingdom and The Netherlands were reviewed. Sixty surgical procedures were performed in these patients: 57 devices were placed in 56 ears. RESULTS: The computed tomographic imaging demonstrated retrofenestral (cochlear) otosclerotic lesions in the majority of patients. Although not statistically significant, the extent of otosclerotic lesions on the computed tomographic scan as categorized in three types tends to be greater in patients with rapidly progressive hearing loss, in patients in whom there is surgically problematic insertion of the electrode array, and in patients with facial nerve stimulation. In four patients, revision surgery had to be performed. Twenty of 53 (38%) patients experienced facial nerve stimulation at various periods postoperatively. CONCLUSION: Cochlear implant surgery in patients with otosclerosis can be challenging, with a relatively high number of partial insertions and misplacements of the electrode array demanding revision surgery. A very high proportion of patients experienced facial nerve stimulation mainly caused by the distal electrodes. This must be discussed with patients preoperatively.


Assuntos
Implante Coclear/normas , Nervo Facial/fisiopatologia , Otosclerose/diagnóstico por imagem , Otosclerose/cirurgia , Complicações Pós-Operatórias , Adulto , Idoso , Implante Coclear/efeitos adversos , Demografia , Eletrodos Implantados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos , Seleção de Pacientes , Complicações Pós-Operatórias/fisiopatologia , Reoperação , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Reino Unido
12.
Int J Pediatr Otorhinolaryngol ; 68(6): 767-74, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15126017

RESUMO

OBJECTIVE: To obtain reference data on the unstimulated salivary flow rate in healthy 6-11-year-old boys and girls, for use in the treatment of drooling in mentally and physically handicapped children. METHODS: Under standard conditions unstimulated saliva was collected from 62 healthy children using the swab method. Flow rate was determined by calculating the increase in weight of cotton rolls placed in the mouth for 5 min. The influence of the variables age, gender and type of gland were evaluated. RESULTS: No significant difference was found between the flow rate in boys and girls or between the children in this age window. The swab method showed good reproducibility. The right and left parotid glands had equal flow rates of 0.15 ml/min. The flow rate in the floor of the mouth secreted by the submandibular and sublingual glands was 0.32 ml/min. CONCLUSIONS: In healthy children of 6-11 years, age and gender did not influence the salivary flow rate and therefore do not have to be taken in consideration when measuring salivary flow rate. The swab method was reliable, easy to carry out and well-tolerated by the group of schoolchildren.


Assuntos
Glândulas Salivares/fisiologia , Salivação/fisiologia , Fatores Etários , Criança , Feminino , Humanos , Masculino , Valores de Referência , Taxa Secretória/fisiologia , Fatores Sexuais
16.
Otol Neurotol ; 34(9): 1699-702, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23988991

RESUMO

OBJECTIVES: Osteoradionecrosis (ORN) of the temporal bone is a rare, late complication of radiotherapy to the temporal bone region for head and neck or skull base tumours. ORN can occur as a localized or a diffuse type, according to the extension of the affected temporal bone. It can lead to otitis externa, otitis media, aseptic labyrinthitis and may lead to serious intracranial complications. Hearing loss may be conductive, sensorineural, or mixed. A few case studies report of previously irradiated patients presenting with conductive hearing loss presumably caused by ORN of the ossicular chain. In only one case report of diffuse ORN, ORN of the ossicles was histologically proven, leading to the conclusion that ossicular chain involvement as the sole entity of ORN would not exist. However, the presented case report disputes this. PATIENTS: A 13-year-old boy presenting with a unilateral mixed hearing loss as the sole otological complaint, 10 years after radiotherapy for an anaplastic ependymoma. RESULTS: Middle ear inspection revealed ORN of the incus which was confirmed by histological investigation. CONCLUSION: ORN of the ossicular chain as a late complication can occur as an isolated entity and may present as conductive hearing loss predominantly in the low frequencies. Middle ear inspection and ossicular chain reconstruction should be attempted, bearing in mind the risk of iatrogenic lacerations of a thin tympanic membrane and possibly a delayed wound healing.


Assuntos
Perda Auditiva Condutiva-Neurossensorial Mista/etiologia , Bigorna/efeitos da radiação , Osteorradionecrose/complicações , Adolescente , Neoplasias Encefálicas/radioterapia , Ependimoma/radioterapia , Perda Auditiva Condutiva-Neurossensorial Mista/patologia , Perda Auditiva Condutiva-Neurossensorial Mista/cirurgia , Humanos , Bigorna/patologia , Bigorna/cirurgia , Masculino , Prótese Ossicular , Osteorradionecrose/patologia , Osteorradionecrose/cirurgia , Resultado do Tratamento
17.
J Clin Virol ; 56(2): 113-7, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23141930

RESUMO

BACKGROUND: Congenital cytomegalovirus (CMV) infection is the leading cause of non-genetic congenital hearing loss. The contribution of congenital CMV to prelingual deafness and the pathophysiology is largely unknown. OBJECTIVE: (1) To analyze the prevalence of congenital CMV among cochlear implant (CI) recipients with prelingual deafness. (2) To genotype CMV present in dried blood spots (DBS) and in the inner ear years after birth. STUDY DESIGN: Children and adults with prelingual deafness who received a CI in 2010-2011 were included prospectively. Perilymphatic fluids were collected during CI surgery and, in the pediatric cases, DBS were retrieved for CMV DNA detection. Furthermore, a cohort of children with prelingual deafness who received a CI between 2003 and 2008 were included retrospectively. CMV detection in DBS and perilymph was followed by gB and gH genotyping. RESULTS: Seventysix pediatric CI recipients were included. Seventy DBS were tested for CMV DNA, resulting in a prevalence of congenital CMV of 14% (10/70). Perilymphatic fluid was available from 29 pediatric CI recipients. One perilymph fluid, of a 21-month old girl with congenital CMV, asymptomatic at birth, was CMV DNA positive. The CMV strain in the perilymph was genotypically identical to the strain present in her DBS (gB1/gH2). Perilymph samples from 21 adult CI recipients were CMV DNA negative. CONCLUSIONS: Our study stresses the important contribution of congenital CMV among pediatric CI recipients. Furthermore, our genotyping data support the hypothesis that CMV-related hearing loss is associated with ongoing viral replication in the inner ear up to years after birth.


Assuntos
Implantes Cocleares , Infecções por Citomegalovirus/congênito , Citomegalovirus/isolamento & purificação , DNA Viral/isolamento & purificação , Surdez/virologia , Dessecação , Manejo de Espécimes/métodos , Adolescente , Adulto , Sangue/virologia , Criança , Pré-Escolar , Citomegalovirus/classificação , Citomegalovirus/genética , Infecções por Citomegalovirus/virologia , DNA Viral/genética , Surdez/etiologia , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Perilinfa/virologia , Adulto Jovem
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