Long-term residual hearing in cochlear implanted adult patients who were candidates for electro-acoustic stimulation.

PURPOSE: To evaluate the long-term hearing outcomes in cochlear implanted adults with residual hearing at low frequencies, and the proportion of patients using electro-acoustic stimulation (EAS). METHODS: A monocentric retrospective cohort study was performed in a tertiary referral center. Population demographics, surgical approach, pre- and postoperative hearing at low frequencies, in the implanted and contralateral ear, were recorded as well as duration of EAS use. The percentage hearing preservation was calculated according to the formula S (HEARRING group). RESULTS: In total, 63 adults (81 ears) with residual hearing underwent cochlear implantation with intent to use EAS processors. Six different types of electrode array were implanted. The mean pure tone audiometry (PTA) shift after cochlear implantation was 16 ± 15 dB HL (range 0-59 dB HL). Half of the implanted ears had minimal hearing preservation or total hearing loss (HL) at 5.5 years and the cumulative risk of total HL was 50% at 7 years. During the follow-up, total HL occurred in 22 ears. The decrease in hearing levels was similar in both implanted and contralateral ear during follow-up (ns, F = 2.46 ± 3, Linear Mixed Model (LMM)). Only 44 patients found a benefit from EAS at the first fitting. At the last visit, EAS processors were fitted in 30% of the cases. The pre- and postoperative mean PTA thresholds were not predictive of EAS use (Cox's proportional hazards analysis). CONCLUSIONS: Postoperative residual hearing was observed in 93% of implanted ears, but only half of them had an initial benefit from EAS. No predictive factors were found to influence the use of EAS processors.

Implante coclear en paciente con síndrome de Q-T prolongado / Cochlear implantation in a patient with elongated Q-T syndrome / Implante coclear em paciente com síndrome de Q-T alongado

El síndrome de Q-T prolongado es una afección que se caracteriza por interrupción del ritmo cardíaco normal. Esta enfermedad es causada por mutación en genes que codifican los canales de voltaje de potasio o sodio, interrumpiendo de esta forma el flujo de dichos iones en el músculo cardíaco. En algunos casos este flujo iónico también se encuentra alterado a nivel del oído interno, por lo cual puede encontrarse asociado a hipoacusia neurosensorial profunda. El diagnóstico se basa en la electrocardiografía y el cuadro clínico, caracterizado por ataques sincopales recurrentes, crisis convulsivas o muerte súbita como primera manifestación. En los casos asociados a hipoacusia neurosensorial profunda, el implante coclear como tratamiento de la sordera presenta riesgos adicionales debido a la posibilidad de arritmias cardíacas y muerte súbita; por lo cual existen consideraciones perioperatorias especiales.

Prolonged Q-T syndrome is a condition characterized by disruption of normal heart rhythm, presented as a prolonged QT interval. This disease is caused by mutation in genes encoding the potassium or sodium voltage channels, thus disrupting the flow of such ions into the cardiac muscle. In some cases this inonic flow is also altered at the level of the inner ear, which may be associated with deep neurosensorial hearing loss. The diagnosis is based on electrocardiography and the clinical picture, characterized by recurrent syncopal attacks, seizures or sudden death as the first manifestation. In cases associated with deep neurosensory hearing loss, the cochlear implant as a treatment for deafness presents additional risks due to the possibility of cardiac arrhythmias and sudden death; for which there are special peri-operative considerations.

Síndrome Q-T prolongada é uma condição caracterizada por uma ruptura do ritmo cardíaco normal, apresentado como um intervalo prolongado de QT. Esta doença é causada por mutação em genes que codificam os canais de tensão de potássio ou de sódio, interrompendo assim o fluxo de tais íons para o músculo cardíaco. Em alguns casos, este fluxo inônico também é alterado no nível da orelha interna, o que pode estar associado à perda auditiva neurosensorial profunda. O diagnóstico é baseado em eletrocardiografia e no quadro clínico, caracterizado por ataques de síncopes recorrentes, convulsões ou morte súbita como a primeira manifestação. Nos casos associados à perda auditiva neurosensorial profunda, o implante coclear como tratamento para surdez apresenta riscos adicionais devido à possibilidade de arritmias cardíacas e morte súbita; para o qual há considerações perioperatórias especiais

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.

Interstitial deletions of the distal part of chromosome 2p seem to be rarely identified or reported: to date, only nine distinct patients have been published. The last three patients were diagnosed with the use of more recent molecular karyotyping technology (SNP array). We report on the natural history of an 8-year-old boy with dysmorphic features, postnatal overgrowth, microcephaly, generalized hypotonia, and global developmental delay. The diagnosis was accomplished by SNP array investigation that led to the identification of a de novo 7.4 Mb deletion of 2p23.2-p24.1. The present patient also developed a nonsyndromic auditory neuropathy. Since the deletion encompassed the OTOF gene, this haploinsufficiency suggests second allele sequencing as a possible cause (DFNB9). We describe the phenotype of the patient and review reports in patients with del 2p23 subsequent to the advent of the genomic era. At the time of identification of "new" micro- deletion and -duplication syndromes, the present report adds to the description of phenotype in patients with del(2)p(23.2;24.1) and the 2p23.2 region in particular.

Newborn hearing screening in the Campania region (Italy): early language and perceptual outcomes of infants with permanent hearing loss.

Hearing loss in children causes a deficit in early perceptive and language skills. The objective of this study was to evaluate early receptive and expressive language outcomes in children with hearing loss, identified by hearing screening, compared to the time of diagnosis. We studied 18 severely hearing impaired children who were divided into two groups according to the time of diagnosis. Evaluation of communicative language ability was carried out at 18 month of age using the "MacArthur Child Development Inventory" questionnaire, while evaluation of acoustic-perceptual abilities was assessed with the Genovese-Arslan protocol every three months following diagnosis. The linguistic communicative and acoustic-perceptual outcomes of hearing impaired children diagnosed before 6 months of age followed those expected for normally hearing children, with a trend of temporal progression of skills that were faster than those of children diagnosed after 6 months of age.

Relación entre hipoacusia y diabetes mellitus tipo 2 / Relationship between hearing loss and type 2 diabetes mellitus

Introducción: La diabetes mellitus tipo 2 es una enfermedad prevalente en nuestro país. Básicamente en esta, falla la regulación de la glicemia lo que puede provocar diversas complicaciones. Diversos estudios han encontrado que puede causar lesiones a largo plazo en el sistema auditivo pudiendo llegar a causar una hipoacusia de tipo neurosensorial. Objetivo: Conocer si pacientes con diabetes mellitus tipo 2 presentan una hipoacusia sensorio neural mayor de lo esperado. Material y método: Estudio transversal caso control. El grupo comparativo estuvo constituido por 45 pacientes con diabetes mellitus tipo 2 y con 53 pacientes sanos y que constituyen el grupo control. La edad de ambos grupos fluctuó entre 30 a 50 años. Los criterios de exclusión incluyeron a pacientes con trauma acústico, ototóxicos y antecedentes otológicos previos. Además se aplicó una encuesta y un examen otológico para descartar lesiones. A cada paciente se le realizó una audiometría tonal, siempre en las mismas condiciones y por el mismo examinador. Se analizaron en cada oído las frecuencias 128; 256; 512; 1.000; 2.000; 3.000; 4.000; 6.000; 8.000 Hz y el PTPy en intervalos de 5 dB en cada frecuencia. Para el análisis estadístico, se aplicó las pruebas de normalidad de Kolmogorov-Smirnov y Shapiro-Wilk y la prueba no paramétrica de Mann Whitney. Resultados: La media de las edades fue de 40,85 años con desviación estándar 6,33para los controles y 42,62 años con desviación estándar de 5,97 para el grupo de diabéticos. El tiempo de evolución promedio de diabetes fue de 5,03 años. En el análisis de la diferencia en los promedios tonales se observó un deterioro significativo (P <0,05) en el grupo de diabéticos con respecto a los controles en casi todas las frecuencias evaluados y también en el PTP en ambos oídos. La excepción a lo anterior solo se observó en la frecuencia 256 Hz del oído derecho. Conclusiones: Los pacientes con diabetes mellitus tipo 2 de nuestro estudio presentaron una pérdida auditiva tonal estadísticamente significativa al compararlos con el grupo control.

Introduction: Diabetes mellitus is a prevalent disease in Chile, in diabetes glucose dis-regulation can cause organ and system failure. Several studies have found that diabetes can also cause long-term injuries in the auditory system, causing neurosensorial hearing loss. Aim: To associate diabetes mellitus and the potential consequence of hearing loss determined by tonal audiometry. Material and method: Cross-sectional study case-control, with a N = 45 for diabetic patients and N=53 for control subjects, between 30 to 50 years old. We excluded patients with acoustic trauma, ototoxic use or previous otologic history. A questionnaire was applied and otologic examination was done to rule out injuries. Audiometry was performed, analyzing frequencies in each ear 128,256,512,1000,2000,3000,4000, 6000,8000 Hz and PTP. For statistical analysis we applied the nonparametric Mann Whitney test. Results: Mean age was 40.85 years old with standard deviation 6.33 for controls and 42.62years with standard deviation of 5.97 for cases, average duration of diabetes was of 5.03 years. In the analysis of the difference in average pitch there was a higher significant deterioration (P <0.05) in the diabetic group compared to controls in almost all frequency and PTP in both ears, except in the 256 Hz right ear. Conclusions: Patients with diabetes mellitus showed a hearing loss in tonal audiometry compared to individuals without diabetes mellitus.

Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism.

INTRODUCTION: Hypogonadotropic hypogonadism (HH) is a heterogeneous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distinguished into Kallmann syndrome (KS) and isolated HH. The prevalence of other developmental anomalies is not well established. METHODS: We studied 36 patients with HH (31 males, 5 females, mean age 41.5), 9 with familial and 27 with sporadic HH (33 congenital, 3 adult-onset), by physical examination, smell test (BSIT Sensonics), audiometry, renal ultrasound, and magnetic resonance imaging of the olfactory structures. RESULTS: Based on the smell test, patients were classified as normosmic (n = 21, 58.3%) and hypo/anosmic (n = 15, 41.6%). Hypoplasia/agenesis of olfactory bulbs was found in 40% of patients (10/25; 75% hypo/anosmic, 7.6% normosmic, p < 0.01, Fisher's test). Remarkably, olfactory structures were normal in two anosmic patients, while one normosmic patient presented a unilateral hypoplastic bulb. Fourteen of 33 patients (42.4%) presented neurosensorial hearing loss of various degrees (28.5% hypo/anosmic, 52.6% normosmic, p = NS). Renal ultrasound revealed 27.7% of cases with renal anomalies (26.6% hypo/anosmic, 28.5% normosmic, p = NS). At least one midline defect was found in 50% of the patients (53.3% hypo/anosmic, 47.6% normosmic, p = NS), including abnormal palate, dental anomalies, pectus excavatum, bimanual synkinesis, iris coloboma, and absent nasal cartilage. Anamnestically 4/31 patients reported cryptorchidism (25% hypo/anosmic, 5.2% normosmic, p = NS). CONCLUSION: Hypo/anosmia is significantly related to anatomical anomalies of the olfactory bulbs/tracts but the prevalence of other developmental anomalies, especially midline defects and neurosensorial hearing loss, is high both in HH and KS and independent of the presence of anosmia/hyposmia. From the clinical standpoint KS and normosmic HH should be considered as the same complex, developmental disease.

Emissões otoacústicas evocadas por estímulo transiente e por produto de distorção em recém-nascidos prematuros / Transient and distortion product evoked otoacoustic emissions in premature infants

Introdução: A correlação entre as emissões otoacústicas evocadas por transientes (EOAET) e por produto de distorção (EOAEPD) pode ser útil para a triagem auditiva neonatal, principalmente em recém-nascidos prematuros, que possuem indicadores de risco para deficiência auditiva. Há a necessidade de aprofundar os conhecimentos referentes às propriedades da cóclea desta população. Objetivos: Comparar o resultado das EOAET e das EOAEPD em neonatos prematuros. Analisar a reprodutibilidade nas EOAET, a amplitude e a relação sinal/ruído nas EOAET e EOAEPD. Método: Foram realizadas as EOAET e EOAEPD em 50 neonatos prematuros. Os testes foram correlacionados com relação ao critério "passa/falha" e comparados segundo parâmetros de amplitude e relação sinal/ruído. Resultados: As EOAET estiveram presentes em 71% da amostra. A frequência de 3kHz apresentou melhor desempenho na reprodutibilidade, amplitude e relação sinal/ruído em média. As EOAEPD estiveram presentes em 97% da amostra. A frequência de 2kHz apresentou maior amplitude em média, os valores da relação sinal/ruído aumentaram proporcionalmente nas frequências altas. Houve forte correlação entre as EOAET e as EOAEPD no critério "passa/falha" (p= 0,006). Conclusão: A correlação entre os resultados das EOAET e EOAEPD foi significante. porém um método complementa o outro e ambos podem ser utilizados na TAN.

Introduction: The correlation between the transient (TEOE) and distortion product (DPOAE) evoked otoacoustic emissions may be useful for the neonatal auditory screening, mainly in premature infants, who have risk indicators for hearing deficiency. There is need for deepening the knowledge regarding this population cochlea features. Objective: To compare the TEOE and DPOAE in premature infants. To analyze the reproducibility in the TEOE, the amplitude and the sign/noise ratio in the TEOE and DPOAE. Method: TEOE and DPOAE were carried out in 50 premature infants. The tests were correlated as for the criterion "pass/failure" and compared according to amplitude and sign/noise ratio parameters. Results: The TEOE were present in 71% of the sample. The frequency of 3kHz presented a better performance in the average reproducibility, amplitude and sign/noise ratio. The DPOAE were present in 97% of the sample. The frequency of 2kHz had a major average amplitude, the values of the sign/noise ratio increased proportionally in the high frequencies. There was a strong correlation between TEOE and DPOAE in the "pass/failure" criterion (p=0.006). Conclusion: The correlation between the TEOE and DPOAE results was significant. But one method compliments the other and both may be used in the TAN.

Adrenoleucodistrofia: relato de caso e aspectos relevantes ao otorrinolaringologista / Adrenoleukodystrophy: case report and aspects relevant to the otorhinolaryngologist

Introdução: A adrenoleucodistrofia é uma doença genética com padrão de herança ligado ao X, que consiste numa alteração do metabolismo ocasionando um acúmulo de ácidos graxos de cadeia muito longa (AGCML) associados à desmielinização dos axônios e insuficiência adrenal. Pode manifestar-se inicialmente com alterações de com portamento, da audição, da visão, da fala, da escrita, da marcha e nos casos mais avançados cursa com hipertonia generalizada, perda das funções cognitivas, motoras e disfagia. O diagnóstico é confirmado dosando-se os níveis plasmáticos dos AGCML, achados na ressonância magnética e cariótipo. Relato do Caso: Relatamos o caso de A.V.F., 5anos, encaminhado ao serviço de otorrinolaringologia por dificuldades na escola e de comunicação para avaliação auditiva. A audiometria evidenciou uma perda auditiva moderada bilateral. Alguns meses depois evoluiu com perda progressiva da visão, piora da escrita e agressividade, na ocasião encaminhado ao neuropediatra com a hipótese de doença neurodegenerativa. Foi realizada ressonância evidenciando lesões extensas parieto occipitais. Seu diagnóstico foi confirmado através de cariótipo realizado pelo geneticista com início imediato do tratamento. Aproximadamente 1 ano após início dos sintomas apresentou disfagia orofaríngea grave e broncoaspiração silente diagnosticado pelo videodeglutograma. Comentários Finais: Atualmente com gastrostomia. Não existe uma terapia definida até o momento para a adrenoleucodistrofia. Cabe ao otorrinolaringologista conhecer esta doença pois, assim como no caso acima descrito, é um dos primeiros profissionais a ser consultado, podendo contribuir para o diagnóstico precoce beneficiando o paciente e auxiliando na identificação dos portadores.

Introduction: Adrenoleukodystrophy is a genetic disease with heritage standard bound to X, which consists of an alteration of the metabolism and causes an accumulation of fatty acids of a very large chain (AGCML) associated to demyelinization of axons and adrenal insufficiency. It may initially manifest with alterations of behavior, hearing, vision, speech, writing, gait, and in the more advanced cases, it results in generalized hypertension, loss of cognitive and motor functions and dysphagia. The diagnosis is confirmed by dosing the AGCML's plasmatic levels, findings of the Magnetic Resonance and karyotype. Case Report: We report the case of A.V.F., 5 years old, sent to the otorhinolaryngology service for school and communication difficulties of auditory evaluation. The audiometry confirmed a bilateral moderate hearing loss. Some months after he evolved with progressive loss of vision, worsening of writing and aggressiveness, and was then forwarded to the neuropediatrician with the hypothesis of neurodegenerative disease. Magnetic Resonance was carried out and showed extensive parieto-occipital lesions. His diagnosis was confirmed through karyotype performed by a geneticist with an immediate beginning of the treatment. Approximately 1 year after the beginning of the symptoms, he presented with severe oropharyngeal dysphagia and silent bronchoaspiration diagnosed by the video-deglutogram exam. Final Comments: Today with gastrotomy. So far, there is no therapy defined for adrenoleukodystrophy. The otorhinolaryngologist must know this disease because, as well as in the case described above, he/she is one of the first professionals.