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1.
Clin Otolaryngol ; 49(2): 235-242, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38178371

RESUMO

INTRODUCTION: There is an increased demand for well-validated PROMs in otology. This study will systematically assess the methodological quality of all published patient-reported outcome measures (PROMS) for patients with multiple ear complaints and to identify the best suitable PROM for use by clinicians treating patients with multiple ear complaints. METHODS: An extensive systematic mapping review of all otology questionnaires was performed to identify questionnaires measuring multiple ear complaints. The 'Consensus-based standards for the selection of health measurement Instruments' (COSMIN) checklists were used to evaluate the quality of the questionnaire by two researchers. The worst item score per aspect of the methodological assessment counted. RESULTS: Twelve multiple-complaint questionnaires were included in the study for quality assessment. Ten questionnaires were disease-specific (COMQ-12, CES, ZCMEI-21, MD-POSI, PAN-QOL, ETDQ-7, MDOQ, GYSSCDQ, COMOT-15 and DEU-MDDS). Two questionnaires were ear domain-specific (OQUA and COQOL). The majority of multiple complaint questionnaires lacked good design with concept elicitation and patient involvement. CONCLUSION: For the majority of questionnaires, the quality assessment was inadequate as only a few authors consulted with patients affected by the complaints in the development. Modifications of earlier versions of PROMS or combinations of multiple questionnaires lead to ongoing (cross-cultural) validation of these questionnaires albeit mediocre design and validation. The two domain-specific questionnaires are the COQOL and OQUA, both with adequate quality but different focus. COQOL to quantify the quality of life and OQUA to measure and evaluate the severity and impact of ear complaints. [Correction added on 26 January 2024, after first online publication: In the preceding sentence, the spelling of the abbreviation COQOL has been corrected in this version.].

3.
Ear Hear ; 43(6): 1807-1815, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35729718

RESUMO

OBJECTIVES: Tinnitus is highly prevalent, but only a few risk factors for developing tinnitus are known and little is known about factors associated with the degree of annoyance of new-onset tinnitus. Longitudinal analysis can reveal risk factors associated with the development of tinnitus and might lead to targeted prevention. The aim of this study is twofold. (1) To identify risk factors that are longitudinally associated with the odds of developing tinnitus 5 years later. (2) To identify factors that are cross-sectionally associated with tinnitus annoyance in adults with new-onset tinnitus. METHODS: Baseline, 5-year, and 10-year follow-up data of participants in the Netherlands Longitudinal Study on Hearing (NL-SH) were used. The NL-SH is a web-based prospective cohort study, which started in 2006 and includes both normal hearing and hearing-impaired adults aged 18 to 70 years at baseline. The NL-SH uses an online digit-triplet speech-in-noise test to asses speech recognition ability in noise, and online questionnaires on various aspects of life. At follow-up, participants are asked (1) if they suffer from tinnitus and (2) to rate tinnitus annoyance on a 0 to 100 numeric rating scale. We investigated whether demographic (age, sex, living arrangement, educational level), lifestyle (history of tobacco smoking, alcohol use), health (asthma, severe heart disease, hypertension, history of stroke, osteoarthritis, rheumatoid arthritis, epilepsy, multiple sclerosis, and migraine), hearing (speech recognition ability in noise, hyperacusis, and occupational noise exposure), and psychological variables (distress, somatization, depression, and anxiety) were potential risk factors for new-onset tinnitus, or associated with annoyance caused by new-onset tinnitus. Generalized estimating equations were used to longitudinally analyze the association between potential risk factors and new-onset tinnitus measured 5 years later. A multivariable association model was constructed using a forward selection procedure with p < 0.05 for model entry. Linear regression analysis was used to cross-sectionally analyze the association between potential factors and tinnitus annoyance in new-onset tinnitus. For this purpose, a multivariable association model was constructed using a forward selection procedure with p <0.05 for model entry. RESULTS: In total, 734 participants without tinnitus at baseline were included, from which 137 participants reported to suffer from new-onset tinnitus 5 or 10 years later. Risk factors for new-onset tinnitus were history of smoking (odds ratio 1.5, 95% confidence interval [CI] 1.0 to 2.2, p = 0.027) and higher levels of somatization (odds ratio 2.0, 95% CI 1.2 to 3.3, overall p = 0.024). Factors associated with the degree of tinnitus annoyance were increased levels of anxiety (ß = 11.6, 95% CI 2.3-20.8, overall p = 0.035) and poor speech recognition ability in noise (ß = 13.5, 95% CI, 4.4 to 22.6, overall p = 0.014). CONCLUSIONS: Higher levels of somatization and a history of smoking were found to be risk factors for new-onset tinnitus 5 years later. Anxiety and poor speech recognition ability in noise were associated with higher degrees of tinnitus annoyance in new-onset tinnitus. Somatization deserves to be addressed in future research and clinical practice as it might provide part of a model for the development of chronic tinnitus.


Assuntos
Perda Auditiva , Zumbido , Adulto , Humanos , Zumbido/epidemiologia , Estudos Longitudinais , Estudos Prospectivos , Hiperacusia/epidemiologia , Perda Auditiva/psicologia
4.
Otol Neurotol ; 43(5): e582-e589, 2022 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-35261382

RESUMO

BACKGROUND: Results and success measures of cholesteatoma surgery are generally described using objective data whereas subjective data are mostly lacking. Patients experiences and complaints are becoming more important alongside clinical and audiometric outcome measures in cholesteatoma care. OBJECTIVE: To investigate the course of patient-reported complaints, the impact of complaints, audiometric measures and the stability of audiometric measures, and complaints over time after primary and recurrent/residual cholesteatoma surgery. METHODS: Postoperative patients were prospectively included and divided into primary acquired and recurrent/residual cholesteatoma. The EuroQol 5D (EQ-5D-3L), Otology Questionnaire Amsterdam (OQUA), and the Speech Spatial Questionnaire (SSQ) were completed by 144 patients up to 2 years postoperative. Patient-reported complaints divided in eight separate domains, postoperative hearing and impact on daily life were longitudinally assessed by means of linear mixed models. RESULTS: Hearing loss and tinnitus are the most reported postoperative complaints over time. Patient-reported loss of taste and the impact of all complaints decline over time. All other patient-reported complaints remain stable over time, only itch complaints fluctuate. Primary cholesteatoma patients score significantly higher on hearing loss complaints compared with recurrent/residual patients although they have comparable mean audiometric hearing loss. Furthermore, pure-tone hearing threshold, instead of asymmetric hearing loss, is correlated with the localization domain of the SSQ. CONCLUSION: This study provides important insights in the course of complaints and its impact on daily life after cholesteatoma surgery. Overall, the postoperative patient-reported complaints after cholesteatoma surgery are generally low in the studied population.


Assuntos
Colesteatoma da Orelha Média , Colesteatoma , Perda Auditiva , Colesteatoma/cirurgia , Colesteatoma da Orelha Média/cirurgia , Audição , Perda Auditiva/etiologia , Humanos , Medidas de Resultados Relatados pelo Paciente , Estudos Retrospectivos , Inquéritos e Questionários , Resultado do Tratamento
5.
Acta Otorhinolaryngol Ital ; 41(4): 308-316, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34533534

RESUMO

OBJECTIVE: Evaluation of the management and survival in patients treated for temporal bone squamous cell carcinoma (TBSCC) in a tertiary referral centre. METHODS: Forty-nine patients underwent primary treatment for TBSCC. Thirty-six patients underwent a lateral temporal bone resection (LTBR) or subtotal temporal bone resection (STBR). Overall survival (OS) and disease-specific survival (DSS) analysis were assessed. RESULTS: Five-year OS of the 49 patients was 39%. Five-year OS of the 36 patients who underwent LTBR or STBR was 46%. Tumour-free margins were achieved in all patients with T1 and T2 disease, in 59% patients with T3 tumours and 0% patients with T4 disease. Five-year DSS was 85% for all T1/T2 tumours, 53% for T3 tumours and 0% for T4 tumours. Clear resection margins was the only significant predictor of DSS in our cohort. CONCLUSIONS: The mainstay of treatment for TBSCC is temporal bone resection with tumour free resection margins, with or without adjuvant radiotherapy. Survival is negatively influenced by non-radical resection. T1 and T2 tumours can be managed safely with LTBR. More advanced disease requires a more extensive resection, with a higher likelihood of non-radical resections and decreased survival rates.


Assuntos
Carcinoma de Células Escamosas , Osso Temporal , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Intervalo Livre de Doença , Humanos , Recidiva Local de Neoplasia/patologia , Estadiamento de Neoplasias , Estudos Retrospectivos , Taxa de Sobrevida , Osso Temporal/cirurgia , Resultado do Tratamento
6.
Audiol Neurootol ; 26(5): 368-377, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33652431

RESUMO

INTRODUCTION: Risk factors for cardiovascular disease (CVD) are associated with sensorineural hearing loss. CVD risk factors are known to cluster and interact, thereby increasing the cumulative risk for CVD. Previously, using the database of the Netherlands Longitudinal Study on Hearing (NL-SH), an association was found between a history of smoking and an increased decline in speech recognition in noise over 10 years of follow-up. Prospectively limited data are available on the association between CVD risk factors, interactions of these risk factors, and hearing loss. In this study, data from the NL-SH were used to study the association between CVD risk factors and speech recognition in noise longitudinally. METHODS: Baseline, 5-year, and 10-year follow-up data of the NL-SH were included. The NL-SH is a web-based prospective cohort study which started in 2006. Participants were aged 18-70 years at baseline. Speech recognition in noise was determined with an online digit-triplet speech-in-noise test. In addition, participants completed online questionnaires on demographic, lifestyle, and health-related characteristics. The association of the ability to recognize speech in noise with CVD risk factors (i.e., obesity, rheumatoid arthritis [RA], hypertension, diabetes mellitus, and dyslipidemia) was analyzed longitudinally. We also analyzed the interaction between these risk factors (including age, sex, and history of smoking) and speech recognition in noise. RESULTS: None of the CVD risk factors or interactions of 2 CVD risk factors was significantly associated with a decline in SRT over time. Obesity (p = 0.016), RA (p = 0.027), and hypertension (p = 0.044) were associated with overall higher (more unfavorable) SRTs. No overall interactions between CVD risk factors were found. CONCLUSION: Obesity, RA, and hypertension were overall associated with a higher SRT, but no longitudinal associations between these or other CVD factors with SRTs were found. Also, no interactions between 2 CVD risk factors and SRTs were found. Although no longitudinal associations between CVD risk factors and decline in SRTs were found, clinicians should be alert about the concurrent association between CVD risk factors and hearing loss.


Assuntos
Doenças Cardiovasculares , Percepção da Fala , Doenças Cardiovasculares/epidemiologia , Humanos , Estudos Longitudinais , Estudos Prospectivos , Fatores de Risco , Fala
7.
Ear Nose Throat J ; 100(5): 368-374, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31558063

RESUMO

PURPOSE: To evaluate stapedotomy learning curve with cumulative summation methodology using different success criteria (ie, air-bone gap [ABG] ≤10 dB, ABG ≤15 dB, restoration of interaural symmetry, or hearing threshold gain >20 dB), and to assess patient characteristics influencing or modifying the learning curve. METHODS: Retrospective chart review of primary and revision stapedotomy cases performed by surgeon 1 (S1, n = 78) and surgeon 2 (S2, n = 85). RESULTS: Using the classic criterion for a successful stapedotomy (ABG ≤10 dB), patients with preoperative ABG >34 dB were associated with unsuccessful procedures (S1 P = .02; S2 P = .07). Revision surgery was associated with unsuccessful outcomes (S1 P = .005; S2 P = .0012). Cumulative summation plots using different criteria did not show a linear trend of association between stapedotomy success and number of operations, but preoperative characteristics of the patients who underwent stapedotomy significantly influenced the plots. Cumulative summation plots showed an initial increasing tendency with improving results, but when ear surgeons got more skilled, they operated on more complex cases (ie, patients with higher preoperative ABG or revision stapedotomy) and they could not meet the success criteria. CONCLUSIONS: Cumulative summation plots do not seem useful to evaluate the stapedotomy learning curve, as they do not correctly deal with heterogeneous case series. The increasing complexity of the stapedotomy patients during the surgeons' career impacts on the outcome of stapedotomy and confounds the evaluation of the growing skills of the surgeon. Stapedotomy audiological success rates are strongly influenced by the success criteria used.


Assuntos
Curva de Aprendizado , Avaliação de Resultados em Cuidados de Saúde/métodos , Reoperação/estatística & dados numéricos , Cirurgia do Estribo/educação , Cirurgia do Estribo/estatística & dados numéricos , Adulto , Limiar Auditivo , Condução Óssea , Competência Clínica/estatística & dados numéricos , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
8.
Eur Arch Otorhinolaryngol ; 278(3): 653-658, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32529402

RESUMO

PURPOSE: Differences in the definition and classification of cholesteatoma hinders comparing of surgical outcomes of cholesteatoma. Uniform registration is necessary to allow investigators to share and compare their findings. For many years surgical cholesteatoma procedures were divided into two main groups: canal wall up mastoidectomy (CWU) and canal wall down mastoidectomy (CWD). Recently, mastoid obliteration can be added to both procedures. Because of great variation within these main groups, the International Otology Outcome Group (IOOG) proposed the new SAMEO-ATO classification system to categorize tympanomastoid operations. The aim of our study was to correlate the mastoid bone extirpation (M-stage) with the contemporary (CWU, CWD with or without obliteration) system. METHODS: Demographic characteristics and type of performed surgery were registered for 135 cholesteatoma patients from sixteen hospitals, both secondary and tertiary care institutions, across the Netherlands. In addition, the surgical reports were collected, retrospectively classified according to the contemporary system and the new system and compared. Correlations of the outcomes were calculated. RESULTS: In total, there were 112 CWU and 14 CWD (both with or without obliteration) suitable for correlation analysis. Z test for correlation between the M-stage and CWU procedure was significant for M1a and M1b procedure and significant for M2c with the CWD procedure. CONCLUSION: The newly proposed SAMEO-ATO classification seems to be more detailed in the registration of surgical procedures than surgeons currently are used to. All M-stages of the SAMEO-ATO system are correlating well to the standard CWU and CWD except one 'in between' M-stage.


Assuntos
Procedimentos Cirúrgicos Otológicos , Colesteatoma da Orelha Média/epidemiologia , Colesteatoma da Orelha Média/cirurgia , Humanos , Processo Mastoide/diagnóstico por imagem , Processo Mastoide/cirurgia , Países Baixos/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento
9.
Eur Arch Otorhinolaryngol ; 278(10): 3777-3787, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33336300

RESUMO

BACKGROUND: To compare cholesteatoma care internationally and to evaluate outcomes, ear surgeons must use the same terminology. However, a clear universal definition on how to describe the extension, destruction and accompanying morbidity caused by the cholesteatoma is lacking. The practical applicability by means of interrater agreement is assessed for the STAMCO and the ChOLE classification. METHODS: A total of 134 adult patients derived from the nationwide multicentre study in the Netherlands, entitled Dutch Cholesteatoma Data (DCD) were included. Retrospective analysis of 134 surgical reports according to the STAMCO and ChOLE classification for localisation/extension of the cholesteatoma, complication status and ossicular chain status. Both the percentage agreement and the interrater agreement were determined for each item of the classifications and interrater agreement was compared between the classifications as a whole. RESULTS: Differences in interrater agreement were found for both the localisation/extension of the cholesteatoma and ossicular chain status. STAMCO classification derived from the surgical report scored better on the localisation/extension of the cholesteatoma, whereas the ChOLE classification derived from the surgical report scored better on the status of the ossicular chain. In both classifications, complication status had a low agreement level but was also poorly registered in the surgical reports. CONCLUSION: Both STAMCO and ChOLE will be beneficial in uniform registration of cholesteatoma pathology in practice. Modifications proposed for both classifications may make them even more practical applicable in the future. A common denominator obtained from these two classifications may be incorporated in a standardised surgical report to facilitate evaluation which make outcomes transferable towards both classifications.


Assuntos
Colesteatoma da Orelha Média , Colesteatoma , Adulto , Colesteatoma/diagnóstico , Colesteatoma/cirurgia , Colesteatoma da Orelha Média/cirurgia , Ossículos da Orelha , Humanos , Países Baixos , Estudos Retrospectivos
10.
Otol Neurotol ; 41(8): 1094-1101, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-33169950

RESUMO

BACKGROUND: To coordinate and align the content for registration of cholesteatoma care. METHODS: Systematic Delphi consensus procedure, consisting three rounds: two written sessions followed by a face-to-face meeting. Before this procedure, input on important patient outcomes was obtained. Consensus was defined as at least 80% agreement by participants. Hundred-thirty-six adult patients who had undergone cholesteatoma surgery and all ENT surgeons of the Dutch ENT Society were invited. The consensus rounds were attended by ENT surgeons with cholesteatoma surgery experience. Feasibility and acceptability of outcome measures and reporting agreements were assessed in round 1 by 150 ENT surgeons. In round 2 definitions were narrowed and context information to interpret outcome measure were questioned. In round 3, the results, amendments, and the open-ended points were discussed to reach agreement. RESULTS: Most important outcome measures are: 1) the presence or absence of a cholesteatoma in the first 5 years after surgical removal of cholesteatoma, 2) hearing level after surgical removal of cholesteatoma, and 3) the documented assessment of patient's complaints with a validated patient reported outcome measures questionnaire (PROM). Furthermore, consensus was reached on the registration of cholesteatoma type (residual/recurrent), localization of cholesteatoma, and reporting of the presence of cholesteatoma in the follow-up. CONCLUSION: Consensus was reached on the content and method of registration of cholesteatoma care based on patient's and ENT surgeons input. Three outcome measures were defined. National agreements on the method and content of registration will facilitate monitoring and feedback to the ENT surgeon about the cholesteatoma care.


Assuntos
Colesteatoma , Adulto , Colesteatoma/cirurgia , Consenso , Técnica Delphi , Humanos , Avaliação de Resultados em Cuidados de Saúde , Projetos de Pesquisa
11.
Clin Otolaryngol ; 45(4): 506-516, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32336029

RESUMO

OBJECTIVE: To examine the construct validity, reliability and responsiveness of the Otology Questionnaire Amsterdam (OQUA). DESIGN: Multicentre, longitudinal study in 2 separate cohorts of patients visiting an ENT surgeon via an online survey programme. SETTING: Tertiary ENT clinics. PARTICIPANTS: Cohort 1 consisted of patients at their first visit at an ENT outpatient clinic with an ear complaint. Cohort 2 consisted of patients who underwent surgery, with a 3-month follow-up post-surgery. MAIN OUTCOME MEASURES: Construct validity: Hypothesis testing, internal consistency and inter-item correlation. Reliability: Test-retest reliability. The construct approach was used for assessing responsiveness. Hypotheses were formulated based on the association between the OQUA and Glasgow Health Status Inventory (GHSI) or Global Rating Scale (GRS). RESULTS: Construct validity: The correlation between the individual items in the impact domain ranged from 0.424 to 0.737. Confirmatory factor analysis showed a good fit. As expected, the OQUA impact showed strong relationships with GHSI total and general scale. Reliability: The test-retest reliability coefficient ranged from 0.541 to 0.838. Responsiveness: All hypotheses were conformed. As expected, the change score of the OQUA showed good correlation between OQUA impact and GHSI and moderate correlation between the GRS and OQUA complaints. CONCLUSION: The OQUA has 8 complaint domains (earache, pressure sensation, itching, tinnitus, hearing loss, ear discharge, loss of taste and dizziness) and 1 impact domain. Each domain results in one score of 0-100. The OQUA shows good results for construct validity, (test-retest) reliability and responsiveness, supporting the potential benefit for the patient with an ear complaint visiting the ENT surgeon. The extensive validation furthermore confirms a certified generic otology PROM with an impact and a complaints' part, to be used in different types of otologic interventions and patient groups.


Assuntos
Otopatias/diagnóstico , Otolaringologia/métodos , Medidas de Resultados Relatados pelo Paciente , Feminino , Humanos , Estudos Longitudinais , Masculino , Países Baixos , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários
12.
Ear Hear ; 41(3): 491-499, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31369469

RESUMO

OBJECTIVES: Previous findings of longitudinal cohort studies indicate that acceleration in age-related hearing decline may occur. Five-year follow-up data of the Netherlands Longitudinal Study on Hearing (NL-SH) showed that around the age of 50 years, the decline in speech recognition in noise accelerates compared with the change in hearing in younger participants. Other longitudinal studies confirm an accelerated loss in speech recognition in noise but mostly use older age groups as a reference. In the present study, we determined the change in speech recognition in noise over a period of 10 years in participants aged 18 to 70 years at baseline. We additionally investigated the effects of age, sex, educational level, history of tobacco smoking, and alcohol use on the decline of speech recognition in noise. DESIGN: Baseline (T0), 5-year (T1), and 10-year (T2) follow-up data of the NL-SH collected until May 2017 were included. The NL-SH is a web-based prospective cohort study which started in 2006. Central to the NL-SH is the National Hearing test (NHT) which was administered to the participants at all three measurement rounds. The NHT uses three-digit sequences which are presented in a background of stationary noise. The listener is asked to enter the digits using the computer keyboard. The outcome of the NHT is the speech reception threshold in noise (SRT) (i.e., the signal to noise ratio where a listener recognizes 50% of the digit triplets correctly). In addition to the NHT, participants completed online questionnaires on demographic, lifestyle, and health-related characteristics at T0, T1, and T2. A linear mixed model was used for the analysis of longitudinal changes in SRT. RESULTS: Data of 1349 participants were included. At the start of the study, the mean age of the participants was 45 years (SD 13 years) and 61% of the participants were categorized as having good hearing ability in noise. SRTs significantly increased (worsened) over 10 years (p < 0.001). After adjustment for age, sex, and a history of tobacco smoking, the mean decline over 10 years was 0.89 dB signal to noise ratio. The decline in speech recognition in noise was significantly larger in groups aged 51 to 60 and 61 to 70 years compared with younger age groups (18 to 30, 31 to 40, and 41 to 50 years) (p < 0.001). Speech recognition in noise in participants with a history of smoking declined significantly faster during the 10-year follow-up interval (p = 0.003). Sex, educational level, and alcohol use did not appear to influence the decline of speech recognition in noise. CONCLUSIONS: This study indicated that speech recognition in noise declines significantly over a 10-year follow-up period in adults aged 18 to 70 years at baseline. It is the first longitudinal study with a 10-year follow-up to reveal that the increased rate of decline in speech recognition ability in noise already starts at the age of 50 years. Having a history of tobacco smoking increases the decline of speech recognition in noise. Hearing health care professionals should be aware of an accelerated decline of speech recognition in noise in adults aged 50 years and over.


Assuntos
Audição , Percepção da Fala , Adolescente , Adulto , Idoso , Criança , Seguimentos , Testes Auditivos , Humanos , Estudos Longitudinais , Pessoa de Meia-Idade , Países Baixos , Ruído , Estudos Prospectivos , Fala , Teste do Limiar de Recepção da Fala , Adulto Jovem
14.
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
15.
J Int Adv Otol ; 14(2): 227-232, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30100541

RESUMO

OBJECTIVES: The aim of this scoping review was to evaluate existing classifications of surgical procedures of the middle ear and mastoid and find a suitable classification that could serve as an international standard. MATERIALS AND METHODS: Scoping review with a systematic literature search using reference tracking and a syntax including all surgical procedures in mastoid and middle ear surgery and their synonyms. Studies were selected based on inclusion and exclusion criteria. RESULTS: Eleven reported classifications were included; six of which focused on middle ear surgery, two on mastoid surgery, and three on both. However, none of the classifications included all current surgical procedures of mastoid and middle ear surgery. CONCLUSION: Many classifications have been proposed for innumerable surgical techniques in middle ear and mastoid surgery. Some are outdated, some are incomplete, most are not widely accepted, and only few correspond with all current surgical techniques.


Assuntos
Orelha Média/cirurgia , Processo Mastoide/cirurgia , Procedimentos Cirúrgicos Otológicos/classificação , Humanos , Mastoidectomia/métodos , Procedimentos Cirúrgicos Otológicos/métodos , Procedimentos Cirúrgicos Otológicos/normas , Sistema de Registros , Timpanoplastia/métodos
16.
J Int Adv Otol ; 14(2): 216-226, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30100547

RESUMO

The International Otology Outcome Group (IOOG) was founded in 2017 to encourage and facilitate international collaboration with regard to the surgical outcome of ear surgery. This report outlines the methodology and recommendations of the consensus-based categorization of tympanomastoid surgery produced by the IOOG. The IOOG Steering Committee used the acronym SAMEO-ATO to categorize tympanomastoid operations, representing the stage of surgery, approach, mastoid bone extirpation, external bony wall repair, obliteration of the mastoid cavity, access to the middle ear, tympanic membrane reconstruction, and ossicular reconstruction. A modified Delphi technique was used to obtain international consensus. The expert panels included the chairpersons from 21 otology societies. The approval rate of the SAMEO-ATO system from the otology societies was 95%. The SAMEO-ATO scheme was presented at the 31st Politizer Meeting for field testing. There were no objections or serious concerns raised. Some international otologists wished to see more surgical categories included to reflect the varieties of surgical techniques, but they accepted that it would make the whole system cumbersome. In addition to providing an international categorization of tympanomastoid surgery, the IOOG Steering Committee plans to introduce a common otology dataset that the international otology community could use to record their surgical outcome. The high level of international consensus on the IOOG categorization of tympanomastoid surgery supports this tool for surgeons to pool their surgical data into a large database for research and comparative audit.


Assuntos
Processo Mastoide/cirurgia , Otolaringologia/organização & administração , Procedimentos Cirúrgicos Otológicos/métodos , Membrana Timpânica/cirurgia , Consenso , Orelha Média/cirurgia , Humanos , Agências Internacionais/organização & administração , Substituição Ossicular/métodos , Procedimentos Cirúrgicos Otológicos/classificação , Sociedades Médicas/organização & administração
18.
Otol Neurotol ; 38(6): e100-e106, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28441230

RESUMO

OBJECTIVE: This study addresses the outcome of cochlear implantation in addition to hearing aid use in patients with asymmetric sensorineural hearing loss. STUDY DESIGN: Prospective longitudinal study. SETTING: Tertiary referral center. PATIENTS: Seven adults with asymmetric sensorineural hearing loss, i.e., less than 30% aided speech recognition in their worst hearing ear and 60 to 85% speech recognition in their best hearing ear. All patients had a postlingual onset of their hearing loss and less than 20 years of auditory deprivation of their worst hearing ear. INTERVENTION: Cochlear implantation in the functionally deaf ear. MAIN OUTCOME MEASURES: Speech recognition in quiet, speech recognition in noise, spatial speech recognition, localization abilities, music appreciation, and quality of life. Measurements were performed before cochlear implantation and 3, 6, and 12 months after cochlear implantation. RESULTS: Before cochlear implantation, the average speech recognition of the ear fitted with a hearing aid was 74%. Cochlear implantation eventually resulted in an average speech recognition of 75%. Bimodal stimulation yielded speech recognition scores of 82, 86, and 88% after 3, 6, and 12 months, respectively. At all time intervals, bimodal stimulation resulted in a significantly better speech recognition as compared with stimulation with only hearing aid or only cochlear implant (CI). Speech recognition in noise and spatial speech recognition significantly improved as well as the ability to localize sounds and the quality of life. CONCLUSION: This study demonstrated that patients are able to successfully integrate electrical stimulation with contralateral acoustic amplification and benefit from bimodal stimulation. Therefore, we think that cochlear implantation should be considered in this particular group of patients, even in the presence of substantial residual hearing on the contralateral side.


Assuntos
Implante Coclear/métodos , Implantes Cocleares , Auxiliares de Audição , Perda Auditiva Neurossensorial/reabilitação , Localização de Som , Percepção da Fala , Adulto , Idoso , Terapia Combinada , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Música , Ruído , Estudos Prospectivos , Qualidade de Vida , Som , Resultado do Tratamento
19.
Audiol Neurootol ; 20(6): 354-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26372906

RESUMO

The objective of this study was to determine whether hearing ability in adults is associated with medication use in general, the use of specific types of medication, or polypharmacy. In this exploratory study, data of the National Longitudinal Study on Hearing (NL-SH; n = 2,160) were used. In total, 62% of the participants reported using any medication in the past 28 days. Hearing ability in noise, as determined with an online digit-triplet speech-in-noise test, was significantly associated with (1) medication acting on the alimentary tract and metabolism (including diabetes and acid-related disorders), (2) use of calcium blockers, and (3) medication used for sensory organs.


Assuntos
Tratamento Farmacológico/estatística & dados numéricos , Perda Auditiva/epidemiologia , Adolescente , Adulto , Idoso , Antiácidos/uso terapêutico , Bloqueadores dos Canais de Cálcio/uso terapêutico , Estudos de Coortes , Estudos Transversais , Feminino , Fármacos Gastrointestinais/uso terapêutico , Humanos , Hipoglicemiantes/uso terapêutico , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Preparações Farmacêuticas , Estudos Prospectivos , Adulto Jovem
20.
Otol Neurotol ; 35(10): 1707-14, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25393972

RESUMO

OBJECTIVE: To evaluate the effect of stapedotomy in cochlear implant candidates with far-advanced otosclerosis (FAO). DESIGN: Systematic review of literature and meta-analysis. DATA SOURCES: PubMed, EMBASE, and Cochrane databases were searched for "stapedotomy" and "far-advanced otosclerosis" and their synonyms. The search was carried out on November 28, 2013; no language restrictions were applied. STUDY SELECTION: The initial search yielded 243 articles; a total of nine articles met our inclusion criteria (i.e., patients with FAO and aided speech recognition scores of ≤50%) and were included in this review. In addition, a group of five patients (seven stapedotomies) of our own center was also included in this meta-analysis. DATA EXTRACTION: The methodologic quality of included studies was assessed by examining the study design, level of evidence, method of measurement, and adequacy of outcome reporting. The speech recognition scores before and after stapedotomy as well as the pure-tone average before and after stapedotomy were extracted. DATA SYNTHESIS: A random-effects model was fitted for calculating weighted means. The mean preoperative speech recognition score was 11%; stapedotomy resulted in a mean postoperative speech recognition score of 59%. The mean preoperative and postoperative pure-tone averages were 112 dB HL and 80 dB HL, respectively. Seventy-two percent of the patients no longer met the criterion for cochlear implantation (CI) (i.e., <50% speech recognition), and 35% of the patients reached a postoperative aided speech recognition of more than 80%. CONCLUSION: Stapedotomy combined with hearing aid fitting results in a good outcome in a substantial amount of CI candidates with FAO. We feel that a stapedotomy should be attempted before considering CI in all patients with FAO. In patients with bilateral otosclerosis, a contralateral stapedotomy may offer patients the benefits of binaural processing. If bilateral stapedotomy yields an unsatisfactory outcome, the option for CI is still open.


Assuntos
Implante Coclear , Otosclerose/cirurgia , Cirurgia do Estribo/métodos , Implantes Cocleares , Humanos , Resultado do Tratamento
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