Beethoven´s illnesses and a craniovertebral junction variant? / As doenças de Beethoven e variante da junção craniovertebral?

Ludwig van Beethoven, the great composer, born 250 years ago, had several health problems and a progressive hearing loss. Gastrointestinal symptoms prevailed among his physical complaints, but there were also frequent headaches, eye pain, and polyarthralgia. Likewise, there are many reports about his alcohol intake and frequent walks. There were also peculiar behavioral and awkward physical aspects of the famous composer. All may take part as a determinant for the communicative aspects of his music. Spite Beethoven's corporal structure could be considered just a developmental variant, it can also be congenitally related to many bone-nervous abnormalities such as craniovertebral junction malformation with interference in the Genius' health. In reality, it is almost impossible to cover Beethoven's entire health problem with just one underlying disease. Most likely, he had comorbidities, one of which, although not fatal, was that related to abnormalities in the development of the skull and cervical spine worsened by a baseline autoimmune disorders that injured joints, and maybe even the VIII cranial nerve and inner ear.

Ludwig van Beethoven, o grande compositor, nascido há 250 anos, teve vários problemas de saúde e uma perda auditiva progressiva. Os sintomas gastrointestinais prevaleceram entre suas queixas físicas, mas também houve frequentes episódios de cefaleia, dores nos olhos e poliartralgia. Da mesma forma, há muitos relatos sobre sua ingestão de álcool e caminhadas frequentes. Havia também aspectos físicos peculiares e estranhos do famoso compositor. Todos podem tomar parte como um determinante para os aspectos comunicativos de sua música. Apesar da estrutura corporal de Beethoven poder ser considerada apenas uma variante de desenvolvimento, pode também estar relacionada a algumas anormalidades ósseo- neural, tais como a malformação da junção craniovertebral com interferência na saúde do Gênio. Na realidade, é quase impossível cobrir todo o problema de saúde de Beethoven com apenas uma doença subjacente. Muito provavelmente, ele tinha comorbidades, uma das quais, embora não fatal, era aquela relacionada a anormalidades no desenvolvimento do crânio e da coluna cervical agravadas por uma desordem auto-imune de base que lesionava as articulações, e talvez até o VIII nervo craniano e o ouvido interno.

Risk indicators for hearing loss and language acquisition and their relationship with socioeconomic, demographic and obstetric variables in preterm and term babies. / Indicadores de risco para a deficiência auditiva e aquisição da linguagem e sua relação com variáveis socioeconômicas, demográficas e obstétricas em bebês pré-termo e a termo.

PURPOSE: To compare the frequency of risk indicators in preterm and full-term babies; to analyze the possible relationships among the presence of risk for hearing loss with language acquisition and socioeconomic, demographic and obstetric variables. METHODS: This is a longitudinal cohort study, with a sample of 87 babies. Gestational, obstetric and sociodemographic data were collected from mothers and babies. The socioeconomic classification status of the families were classified using the Brazilian Criteria for Economic Classification. The risk for language was assessed using the Language Acquisition Enunciation Signs and the Denver II test. The data were analyzed using the STATISTICA 9.1 software, using the chi-square and the Mann-Whitney U tests and simple and multiple linear regression models. RESULTS: Permanence in a neonatal intensive care (65.52%), ototoxic (48.28%), mechanical ventilation (39.66%) and hyperbilirubinemia (46.55%) were the more frequent risk indicators in the sample. Regarding socioeconomic, demographic and obstetric factors, there was a correlation among prenatal care, gestational age, birth weight, feeding with hearing risk. Acquisition and development of language showed statistical significance with varicella, HIV, Apgar score and birth weight >1500 grams. CONCLUSION: Preterm babies showed higher frequency of risk indicators compared to full-term babies. Among environmental factors, prenatal care, which interferes in the outcome of gestational age, birth weight, Apgar score and presence of infectious diseases, as well as feeding, emerged as significant factors related to hearing and language acquisition. Prematurity was the relevant biological factor related to hearing and language risk.

OBJETIVO: Comparar a frequência de indicadores de risco em bebês nascidos pré-termo e a termo; analisar as possíveis relações entre a presença de risco para perda auditiva com variáveis socioeconômicas, demográficas, obstétricas e risco à linguagem. MÉTODO: Trata-se de um estudo de coorte longitudinal com amostra de 87 bebês. Foram coletados dados gestacionais, obstétricos e sociodemográficos das mães e dos bebês. A classificação socioeconômica das famílias foi analisada por meio do Critério de Classificação Econômica Brasil. O risco à linguagem foi avaliado por meio dos Sinais Enunciativos de Aquisição da Linguagem e Teste Denver II. Os dados foram analisados utilizando o programa STATISTICA 9.1, por meio dos Testes Quiquadrado e U de Mann-Whitney, Modelo de regressão linear simples e múltiplo. RESULTADOS: A permanência em UTI neonatal (65,52%), ototóxico (48,28%), ventilação mecânica (39,66%) e hiperbilirrubinemia (46,55%) foram os indicadores de risco mais frequentes na amostra. Considerando fatores socioeconômicos, demográficos e obstétricos, houve correlação entre pré-natal, idade gestacional, peso ao nascer e alimentação com o risco auditivo. A aquisição e desenvolvimento de linguagem mostrou significância estatística com a varicela, HIV, Apgar e peso >1500 gramas. CONCLUSÃO: Os prematuros apresentaram maior frequência de indicadores de risco, comparados aos bebês a termo. Dos fatores ambientais, o pré-natal que interfere no desfecho da idade gestacional, peso ao nascer, apgar e presença de doenças infecciosas, além da alimentação, despontaram como significativos relacionados com o desenvolvimento da audição e a aquisição da linguagem. A prematuridade foi o fator biológico relevante relacionado ao risco auditivo e linguístico.

Indicadores de risco para a deficiência auditiva e aquisição da linguagem e sua relação com variáveis socioeconômicas, demográficas e obstétricas em bebês pré-termo e a termo / Risk indicators for hearing loss and language acquisition and their relationship with socioeconomic, demographic and obstetric variables in preterm and term babies

RESUMO Objetivo Comparar a frequência de indicadores de risco em bebês nascidos pré-termo e a termo; analisar as possíveis relações entre a presença de risco para perda auditiva com variáveis socioeconômicas, demográficas, obstétricas e risco à linguagem. Método Trata-se de um estudo de coorte longitudinal com amostra de 87 bebês. Foram coletados dados gestacionais, obstétricos e sociodemográficos das mães e dos bebês. A classificação socioeconômica das famílias foi analisada por meio do Critério de Classificação Econômica Brasil. O risco à linguagem foi avaliado por meio dos Sinais Enunciativos de Aquisição da Linguagem e Teste Denver II. Os dados foram analisados utilizando o programa STATISTICA 9.1, por meio dos Testes Quiquadrado e U de Mann-Whitney, Modelo de regressão linear simples e múltiplo. Resultados A permanência em UTI neonatal (65,52%), ototóxico (48,28%), ventilação mecânica (39,66%) e hiperbilirrubinemia (46,55%) foram os indicadores de risco mais frequentes na amostra. Considerando fatores socioeconômicos, demográficos e obstétricos, houve correlação entre pré-natal, idade gestacional, peso ao nascer e alimentação com o risco auditivo. A aquisição e desenvolvimento de linguagem mostrou significância estatística com a varicela, HIV, Apgar e peso >1500 gramas. Conclusão Os prematuros apresentaram maior frequência de indicadores de risco, comparados aos bebês a termo. Dos fatores ambientais, o pré-natal que interfere no desfecho da idade gestacional, peso ao nascer, apgar e presença de doenças infecciosas, além da alimentação, despontaram como significativos relacionados com o desenvolvimento da audição e a aquisição da linguagem. A prematuridade foi o fator biológico relevante relacionado ao risco auditivo e linguístico.

ABSTRACT Purpose To compare the frequency of risk indicators in preterm and full-term babies; to analyze the possible relationships among the presence of risk for hearing loss with language acquisition and socioeconomic, demographic and obstetric variables. Methods This is a longitudinal cohort study, with a sample of 87 babies. Gestational, obstetric and sociodemographic data were collected from mothers and babies. The socioeconomic classification status of the families were classified using the Brazilian Criteria for Economic Classification. The risk for language was assessed using the Language Acquisition Enunciation Signs and the Denver II test. The data were analyzed using the STATISTICA 9.1 software, using the chi-square and the Mann-Whitney U tests and simple and multiple linear regression models. Results Permanence in a neonatal intensive care (65.52%), ototoxic (48.28%), mechanical ventilation (39.66%) and hyperbilirubinemia (46.55%) were the more frequent risk indicators in the sample. Regarding socioeconomic, demographic and obstetric factors, there was a correlation among prenatal care, gestational age, birth weight, feeding with hearing risk. Acquisition and development of language showed statistical significance with varicella, HIV, Apgar score and birth weight >1500 grams. Conclusion Preterm babies showed higher frequency of risk indicators compared to full-term babies. Among environmental factors, prenatal care, which interferes in the outcome of gestational age, birth weight, Apgar score and presence of infectious diseases, as well as feeding, emerged as significant factors related to hearing and language acquisition. Prematurity was the relevant biological factor related to hearing and language risk.

Use of remote control in the intraoperative telemetry of cochlear implant: multicentric study / Uso do controle remoto na telemetria intraoperatória do implante coclear: estudo multicêntrico

Abstract Introduction: The conventional evaluation of neural telemetry and impedance requires the use of the computer coupled to an interface, with software that provides visualization of the stimulus and response. Recently, a remote control (CR220®) was launched in the market, that allows the performance of intraoperative tests with minimal instrumentation. Objective: To evaluate the agreement of the impedance values and neural telemetry thresholds, and the time of performance in the conventional procedure and by the remote control. Methods: Multicentric prospective cross-sectional study. Intraoperative evaluations of cochlear implants compatible with the use of CR220® were included. The tests were carried out in the 22 electrodes to compare the time of performance in the two situations. The agreement of the neural telemetry threshold values obtained from five electrodes was analyzed, and the agreement of impedance was evaluated by the number of electrodes with altered values in each procedure. Results: There were no significant difference between the impedance values. There was a moderate to strong correlation between the electrically-evoked compound action potential thresholds. The mean time to perform the procedures using the CR220 was significantly lower than that with the conventional procedure. Conclusion: The use of the CR220 provided successful records for impedance telemetry and automatic neural response telemetry.

Resumo Introdução: A avaliação convencional da telemetria neural e de impedâncias implica o uso do computador acoplado a uma interface, o software fornece o estímulo e a visualização das respostas. Recentemente, foi lançado um controle remoto (CR220®), que possibilita testes intraoperatórios com instrumental mínimo. Objetivo: Avaliar a concordância dos valores das impedâncias e dos limiares da telemetria neural e o tempo de execução no procedimento convencional e pelo controle remoto. Método: Estudo prospectivo transversal multicêntrico. Foram incluídas as avaliações intraoperatórias de implante coclear compatível com o uso do CR220®. Os testes foram realizados nos 22 eletrodos para comparar os tempos de execução nas duas situações. Foi analisada a concordância dos valores do limiar da telemetria neural obtidos em cinco eletrodos e a concordância das impedâncias foi avaliada pelo número de eletrodos com valores alterados em cada procedimento. Resultados: Não houve diferença significante entre as impedâncias. Obteve-se moderada a forte correlação entre os limiares do potencial de ação composto eletricamente evocado. O tempo médio para os procedimentos com o CR220 foi significativamente menor do que com o procedimento convencional. Conclusão: O uso do CR220 proporcionou registros bem-sucedidos para a telemetria de impedância e a telemetria automática de respostas neurais.

The Relationship between the Etiology of Profound Prelingual Sensorineural Hearing Loss and the Results of Vestibular-Evoked Myogenic Potentials

Abstract Introduction Cervical vestibular-evoked myogenic potentials (cVEMPs) are biphasic, short latency potentials, which represent the inhibition of the contraction of the sternocleidomastoid muscle (SCM) mediated by the saccule, the inferior vestibular nerve, the vestibular nuclei and the medial vestibular spinal tract. Objective To evaluate the response of cVEMPs in individuals with profound prelingual bilateral cochlear hearing loss. Methods A prospective case-control study. A total of 64 volunteers, divided into a study group (31 patients with profound prelingual sensorineural hearing loss) and a control group (33 subjectsmatched for age and gender with psychoacoustic thresholds of ≤ 25 dB HL between 500 and 8,000 Hz) were submitted to the cVEMP exam. The causes of hearing loss were grouped by etiology and the involved period. Results The subjects of the study group aremore likely to present changes in cVEMPs compared to the control group (35.5% versus 6.1% respectively; p = 0.003), with an odds ratio (OR) of 8.52 (p = 0.009). Itmeans that they had 8.52-fold higher propensity of presenting altered cVEMP results. There were no statistically significant differences between the latencies, the interamplitude and the asymmetry index. Regarding the etiology, there was a statistically significant difference when the cause was infectious, with an OR of 15.50 (p = 0.005), and when the impairment occurred in the prenatal period, with an OR of 9.86 (p = 0.009). Conclusion The present study showed abnormalities in the sacculocolic pathway in a considerable portion of individuals with profound prelingual sensorineural hearing loss due to infectious and congenital causes, as revealed by the cVEMP results. (AU)

Use of remote control in the intraoperative telemetry of cochlear implant: multicentric study.

INTRODUCTION: The conventional evaluation of neural telemetry and impedance requires the use of the computer coupled to an interface, with software that provides visualization of the stimulus and response. Recently, a remote control (CR220®) was launched in the market, that allows the performance of intraoperative tests with minimal instrumentation. OBJECTIVE: To evaluate the agreement of the impedance values and neural telemetry thresholds, and the time of performance in the conventional procedure and by the remote control. METHODS: Multicentric prospective cross-sectional study. Intraoperative evaluations of cochlear implants compatible with the use of CR220® were included. The tests were carried out in the 22 electrodes to compare the time of performance in the two situations. The agreement of the neural telemetry threshold values obtained from five electrodes was analyzed, and the agreement of impedance was evaluated by the number of electrodes with altered values in each procedure. RESULTS: There were no significant difference between the impedance values. There was a moderate to strong correlation between the electrically-evoked compound action potential thresholds. The mean time to perform the procedures using the CR220 was significantly lower than that with the conventional procedure. CONCLUSION: The use of the CR220 provided successful records for impedance telemetry and automatic neural response telemetry.

Hearing Loss in Acromegaly - A Review

Abstract Introduction Acromegaly is a chronic disease caused by growth hormone (GH) excess due to a GH-secreting pituitary adenoma in most cases. There is reasonable data to presume the possible influence of chronic GH and insulin-like growth factor I (IGF-I) hyperproduction on the anatomical structures involved in normal sound perception, and on its conductive and/or sensorineural part. Objectives To review the literature about acromegaly and hearing loss. Data Synthesis A systematic literature search was performed using the MEDLINE database, including hand-searching reference lists from original articles. The search was performed using the terms hearing loss and acromegaly, and only 5 studies were found. Conclusion The results are not consistent, but led to different conclusions. Therefore, more studies with greater numbers of patients with acromegaly are needed.

[A medical biography of Ludwig van Beethoven]. / Ludwig van Beethoven, el genio de Bonn atormentado por sus enfermedades: su historia médica.

Much emphasis has been given to the deafness of Ludwig van Beethoven and its potential causes. However, when analyzing several symptoms reported by himself throughout his life in many letters and his final illness, a common etiology emerges. This article reports the medical history of this artist, based on authoritative scientific sources.

Ludwig van Beethoven, el genio de Bonn atormentado por sus enfermedades: su historia médica / A medical biography of Ludwig van Beethoven

Much emphasis has been given to the deafness of Ludwig van Beethoven and its potential causes. However, when analyzing several symptoms reported by himself throughout his life in many letters and his final illness, a common etiology emerges. This article reports the medical history of this artist, based on authoritative scientific sources.

Preoperative vestibular assessment protocol of cochlear implant surgery: an analytical descriptive study / Protocolo de avaliação vestibular pré-operatória da cirurgia de implante coclear: estudo descritivo analítico

Abstract Introduction: Cochlear implants are undeniably an effective method for the recovery of hearing function in patients with hearing loss. Objective: To describe the preoperative vestibular assessment protocol in subjects who will be submitted to cochlear implants. Methods: Our institutional protocol provides the vestibular diagnosis through six simple tests: Romberg and Fukuda tests, assessment for spontaneous nystagmus, Head Impulse Test, evaluation for Head Shaking Nystagmus and caloric test. Results: 21 patients were evaluated with a mean age of 42.75 ± 14.38 years. Only 28% of the sample had all normal test results. The presence of asymmetric vestibular information was documented through the caloric test in 32% of the sample and spontaneous nystagmus was an important clue for the diagnosis. Bilateral vestibular areflexia was present in four subjects, unilateral arreflexia in three and bilateral hyporeflexia in two. The Head Impulse Test was a significant indicator for the diagnosis of areflexia in the tested ear (p = 0.0001). The sensitized Romberg test using a foam pad was able to diagnose severe vestibular function impairment (p = 0.003). Conclusion: The six clinical tests were able to identify the presence or absence of vestibular function and function asymmetry between the ears of the same individual.

Resumo Introdução: Os implantes cocleares (IC) são indiscutivelmente um método eficaz de recuperação da função auditiva de pacientes surdos. Objetivo: Descrever o protocolo de avaliação vestibular pré-operatória em sujeitos que serão submetidos ao IC. Método: Nosso protocolo institucional prevê o diagnóstico vestibular por meio de seis testes simples: testes de Romberg e Fukuda, nistagmo espontâneo, Head Impulse Test, Head Shaking Nistagmus, prova calórica. Resultados: Foram avaliados 21 pacientes com média de 42,75 ± 14,38 anos. Apenas 28% da amostra apresentaram todos os testes normais. A presença de informação vestibular assimétrica foi documentada pela prova calórica em 32% da amostra e o nistagmo espontâneo mostrou-se pista importante para seu diagnóstico. A arreflexia vestibular bilateral foi diagnosticada em quatro sujeitos; arreflexia unilateral em três e hiporreflexia bilateral em dois. O Head Impulse Test mostrou-se indicador significante (p = 0,0001) para diagnosticar arreflexia da orelha testada. O teste de Romberg sensibilizado em almofada foi capaz de diagnosticar os comprometimentos severos da função vestibular (p = 0,003). Conclusão: Os seis testes clínicos foram capazes de identificar a presença ou não de função vestibular e assimetria da função entre as orelhas de um mesmo indivíduo.

Preoperative vestibular assessment protocol of cochlear implant surgery: an analytical descriptive study.

INTRODUCTION: Cochlear implants are undeniably an effective method for the recovery of hearing function in patients with hearing loss. OBJECTIVE: To describe the preoperative vestibular assessment protocol in subjects who will be submitted to cochlear implants. METHODS: Our institutional protocol provides the vestibular diagnosis through six simple tests: Romberg and Fukuda tests, assessment for spontaneous nystagmus, Head Impulse Test, evaluation for Head Shaking Nystagmus and caloric test. RESULTS: 21 patients were evaluated with a mean age of 42.75±14.38 years. Only 28% of the sample had all normal test results. The presence of asymmetric vestibular information was documented through the caloric test in 32% of the sample and spontaneous nystagmus was an important clue for the diagnosis. Bilateral vestibular areflexia was present in four subjects, unilateral arreflexia in three and bilateral hyporeflexia in two. The Head Impulse Test was a significant indicator for the diagnosis of areflexia in the tested ear (p=0.0001). The sensitized Romberg test using a foam pad was able to diagnose severe vestibular function impairment (p=0.003). CONCLUSION: The six clinical tests were able to identify the presence or absence of vestibular function and function asymmetry between the ears of the same individual.

Endoscopic- Assisted Trephination approach for repair of Frontal Sinus posterior wall fracture in a Child.

A 9 year-old male sustained multiple maxillofacial fractures after falling from a two-store building. Frontal sinuses suffered a bilateral non-displaced linear fractures extending into the anterior and posterior walls. Magnetic resonance imaging (MRI) at this time showed a small encephalocele extending into the right frontal sinus. Operative repair was performed using an Endoscopic-Assisted Trephination approach.

The importance of fundus eye testing in rubella-induced deafness.

OBJECTIVE: The purpose of this study was to establish a new approach to improve detection of deafness due to rubella. METHODS: Colombian institutes for the deaf were visited by a medical team to perform in all enrolled individuals an ophthalmological examination with emphasis in fundus eye by a retina specialist. In cases where ocular alterations compatible with CRS were found, a medical interview by a clinical geneticist analyzing pre-and postnatal history and a thorough medical examination was done. RESULTS: A total of 1383 deaf institutionalized individuals were evaluated in 9 Colombian cities in the period of 2005 to 2006, finding a total of 463 positive cases for salt-and-pepper retinopathy (33.5%), in which rubella could be the etiology of deafness. Medellin, Cartagena, Bucaramanga and Barranquilla were the cities with the highest percentage of Congenital rubella, corresponding to 22.8% of analyzed population. The analysis performed on cases in which reliable prenatal history was obtained in a second appointment (n=88) showed association between positive viral symptoms during pregnancy and salt-and-pepper retinopathy in 62.5% of cases, while both (retinopathy and viral symptoms) were absent in 29.5% of cases; showing a correlation in 92% of cases. CONCLUSIONS: The frequency of deafness by rubella obtained by this study is significantly high compared with previous Colombian studies and with international reports. It was possible to correlate the antecedent of symptoms during pregnancy with the presence of salt-and-pepper retinopathy in this deaf population when reliable prenatal history was available, therefore eye testing with emphasis in fundus examination is a good indicator of rubella induced deafness. We propose a new approach in the search of deafness causes, based on a thorough ophthalmologic examination in all deaf people.

A surdo mudez no Brasil (Cadeira de Hygiene)

No ano de 1926, é publicada a tese de doutoramento em medicina do Dr. Arnaldo de Oliveira Bacellar, pela faculdade de medicina de são Paulo, intitulada A Surdo-Mudez no Brasil. O trabalho apresenta uma rica explanação acerca de temas referentes à surdez tais como: um breve histórico sobre questões relativas à surdez, etiologia da surdez, anatomia e patologia dos órgãos da audição e da fala, políticas de prevenção à surdez, aspectos legais envolvendo sujeitos surdos, e comentários sobre instituições de ensino no Brasil que atendem surdos. O então Instituto Nacional de Surdos foi um dos locais visitados pelo médico para realização da sua pesquisa. Trata-se de uma obra de extrema relevância para a pesquisa histórica nas áreas da educação e da saúde, visto que se configura importante registro, fartamente documentado, da situação dos surdos e da surdez no Brasil nas primeiras décadas do século XX.

A surdo mudez no Brasil (Cadeira de Hygiene) / The deaf mute in Brazil (Hygiene Chair)

No ano de 1926, é publicada a tese de doutoramento em medicina do Dr. Arnaldo de Oliveira Bacellar, pela faculdade de medicina de são Paulo, intitulada A Surdo-Mudez no Brasil. O trabalho apresenta uma rica explanação acerca de temas referentes à surdez tais como: um breve histórico sobre questões relativas à surdez, etiologia da surdez, anatomia e patologia dos órgãos da audição e da fala, políticas de prevenção à surdez, aspectos legais envolvendo sujeitos surdos, e comentários sobre instituições de ensino no Brasil que atendem surdos. O então Instituto Nacional de Surdos foi um dos locais visitados pelo médico para realização da sua pesquisa. Trata-se de uma obra de extrema relevância para a pesquisa histórica nas áreas da educação e da saúde, visto que se configura importante registro, fartamente documentado, da situação dos surdos e da surdez no Brasil nas primeiras décadas do século XX. (AU)

Neurodevelopmental outcomes following two different treatment approaches (early ligation and selective ligation) for patent ductus arteriosus.

OBJECTIVE: To examine whether a change in the approach to managing persistent patent ductus arteriosus (PDA) from early ligation to selective ligation is associated with an increased risk of abnormal neurodevelopmental outcomes. STUDY DESIGN: In 2005, we changed our PDA treatment protocol for infants born at ≤27 6/7 weeks' gestation from an early ligation approach, with prompt PDA ligation if the ductus failed to close after indomethacin therapy (period 1: January 1999 to December 2004), to a selective ligation approach, with PDA ligation performed only if specific criteria were met (period 2: January 2005 to May 2009). All infants in both periods received prophylactic indomethacin. Multivariate analysis was used to compare the odds of a composite abnormal neurodevelopmental outcome (Bayley Mental Developmental Index or Cognitive Score <70, cerebral palsy, blindness, and/or deafness) associated with each treatment approach at age 18-36 months (n = 224). RESULTS: During period 1, 23% of the infants in follow-up failed indomethacin treatment, and all underwent surgical ligation. During period 2, 30% of infants failed indomethacin, and 66% underwent ligation after meeting prespecified criteria. Infants treated with the selective ligation strategy demonstrated fewer abnormal outcomes than those treated with the early ligation approach (OR, 0.07; P = .046). Infants who underwent ligation before 10 days of age had an increased incidence of abnormal neurodevelopmental outcome. The significant difference in outcomes between the 2 PDA treatment strategies could be accounted for in part by the earlier age of ligation during period 1. CONCLUSION: A selective ligation approach for PDAs that fail to close with indomethacin therapy is not associated with worse neurodevelopmental outcomes at age 18-36 months.

Influencia de las mutaciones en los genes de conexina en el desarrollo de hipoacusia neurosensorial no sindrómica / Impact of mutations in connexin genes on the development of non-syndromic sensorineural hearing loss

La principal causa de hipoacusia no-sindrómica autosómica recesiva (HNSAR) son mutaciones en el locus DFNB1, que contiene los genes GJB2 (conexina 26) y GJB6 (conexina 30). Se han descripto más de 100 mutaciones diferentes en GJB2. Dos deleciones en GJB6, del (GJB6-D13S1830) y del(GJB6-D13S1854) mostraron ser prevalentes en España. El objetivo de este trabajo fue determinar la prevalencia de mutaciones en los genes GJB2 y GJB6, en niños con HNSAR de Argentina. Este estudio incluyó 113 niños no relacionados con hipoacusia neurosensorial no-sindrómica moderada a profunda. Para el análisis molecular se utilizó una estrategia en etapas. La mutación 35delG (gen GJB2) se analizó mediante PCR-RFLP. La presencia de deleciones en GJB6 se investigó por PCR múltiple. Las muestras no resueltas en las dos primeras etapas fueron analizadas por secuenciación directa del gen GJB2. En 58 pacientes se encontraron alteraciones en la secuencia de los genes GJB2/GJB6. La mutación 35delG se detectó en 52 de los 84 alelos con mutaciones patogénicas. Se identificaron 16 variantes de secuencia diferentes; entre ellas una mutación no descripta previamente, 262G>C (A88P). La deleción del (GJB6-D13S1830) fue identificada en 7 alelos. La frecuencia de mutaciones en GJB2/GJB6 encontrada en este trabajo está en concordancia con la de otras poblaciones caucásicas. La mutación más prevalente fue 35delG y la segunda mutación más común la deleción del (GJB6-D13S1830), con frecuencias similares a las encontradas en España, desde donde Argentina recibió una de sus mayores olas inmigratorias. Estos resultados destacan la importancia del estudio de los genes GJB2/GJB6 en el diagnóstico etiológico de sordera permitiendo un tratamiento precoz y un asesoramiento genético oportuno.

The main cause of autosomal recessive nonsyndromic hear-ing loss (ARNSHL) are mutations in genes GJB2 (connexin 26) and GJB6 (connexin 30) at the DFNB1 locus. More than 100 different mutations in GJB2 have been described. Two dele-tions in GJB6, of (GJB6-D13S1830) and of (GJB6-D13S1854) have been found prevalent in Spain. The aim of this study was to determine the prevalence of GJB2 and GJB6 gene muta-tions in children with ARNSHL in Argentina. In the study, 113 non-related children with moderate to profound nonsyndromic sensorineural hearing loss were included. A staging strategy was used for molecular analysis. The 35delG mutation (gene GJB2) was analyzed using PCR-RFLP. The presence of de-letions in GJB6 was tested by multiplex PCR. Samples that were not resolved in the first two stages were subsequently assessed by direct sequencing of the GJB2 gene. In 58 patients abnormal patterns were found in the GJB2/GJB6 sequences. The 35delG mutation was detected in 52 of the 84 alleles with pathogenic mutations. Sixteen different sequence variants were identified of which one, 262G>C (A88P), was not previously described. Deletion of (GJB6-D13S1830) was identified in 7 alleles. The rate of mutations in GJB2/GJB6 found in this study is similar to that reported in other Caucasian populations. The most prevalent mutation was 35delG followed by a deletion of (GJB6-D13S1830), with a rate similar to that found in Spain from which Argentina received one of the largest waves of immigrants. These results emphasize the need to study GJB2/GJB6 genes in the etiological diagnosis of hearing loss allowing for early treatment and adequate genetic counseling.

Auditory brainstem implant outcomes and MAP parameters: report of experiences in adults and children.

UNLABELLED: The auditory brainstem implant (ABI) was first developed to help neurofibromatosis type 2 patients. Recently, its use has been recently extended to adults with non-tumor etiologies and children with profound hearing loss who were not candidates for a cochlear implant (CI). Although the results has been extensively reported, the stimulation parameters involved behind the outcomes have received less attention. OBJECTIVE: The aim of this study is to describe the audiologic outcomes and the MAP parameters in ABI adults and children at our center. METHODS: Retrospective chart review. Five adults and four children were implanted with the ABI24M from September 2005 to June 2009. In the adult patients, four had Neurofibromatosis type 2, and one had postmeningitic deafness with complete ossification of both cochleae. Three of the children had cochlear malformation or dysplasia, and one had complete ossified cochlea due to meningitis. Map parameters as well as the intraoperative electrical auditory brainstem responses were collected. Evaluation was performed with at least six months of device use and included free-field hearing thresholds, speech perception tests in the adult patients and for the children, the Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) and (ESP) were used to evaluate the development of auditory skills, besides the MUSS to evaluate. RESULTS: The number of active electrodes that did not cause any non-auditory sensation varied from three to nineteen. All of them were programmed with SPEAK strategy, and the pulse widths varied from 100 to 300 µs. Free-field thresholds with warble tones varied from very soft auditory sensation of 70 dBHL at 250 Hz to a pure tone average of 45 dBHL. Speech perception varied from none to 60% open-set recognition of sentences in silence in the adult population and from no auditory sensation at all to a slight improvement in the IT-MAIS/MAIS scores. CONCLUSION: We observed that ABI may be a good option for offering some hearing attention to both adults and children. In children, the results might not be enough to ensure oral language development. Programming the speech processor in children demands higher care to the audiologist.

Causas de sorderas profundas en niños chilenos asistentes a escuelas especiales para sordos / Causes of severe deafness in Chilean children enrolled in special schools for the deaf

La relación entre la audición y el desarrollo del lenguaje ha sido ampliamente demostrada, se aprende a hablar imitando los sonidos oídos y dándole la interpretación que oralmente los padres enseñan. Por ello, todos los países se están esforzando por realizar un tamizado universal en neonatos. El Estado de Chile, en un primer esfuerzo por detectar tempranamente las sorderas, está aplicando un tamizado auditivo a neonatos de alto riesgo. No hay en Chile estudio sobre las causas de sorderas, por lo cual se decidió investigar sobre esta materia en un grupo de niños sordos que estudia en alguna de las 4 escuelas especiales de Santiago. Conociendo las causas de sorderas congénitas y las de instalación en la infancia temprana, posibilita su prevención en el control del embarazo y de niño sano. Objetivo: Establecer las causas de sorderas profundas, según los conocimientos de sus padres o tutor legal y ficha escolar, en niños y jóvenes estudiantes de escuelas especiales para sordos. Material y método: En este estudio observacional, el universo fueron todos los niños que asisten a 4 escuelas especiales para sordos en Santiago. La muestra estuvo constituida por 315 casos que representan al 92 por ciento del universo. Se revisaron las fichas escolares de estos niños y la información se contrastó y completó con una entrevista a los padres o tutores. Conclusiones: El 63 por ciento de los niños presentaba sordera congénita, entre ellos el 9 por ciento fue por infección materna. Del total de la población, el 41.5 por ciento presentó sordera congénita de causa desconocida; el 13 por ciento fue adquirida por meningitis y en el 5.8 por ciento de los casos por prematurez.

The relationship between hearing and language development has been widely demonstrated, as children learn to speak by imitating sounds and interpreting them as they are orally taught by their parents. Because of this, countries are trying to put more emphasis on universal screening of newborns. In Chile, the first efforts of early detection of deafness have been in screening high risk newborns. En Chile there are no studies on the causes of deafness, and for this reason the present study seeks to investigate this issue in a group of Deaf children in special schools in Santiago. Understanding the causes of congenital and early childhood deafness allows for better prevention during pregnancy and early childhood. Objective: Establish the causes of severe deafness, according to the knowledge of parents or legal guardians and school records, in young students in special schools for the Deaf. Materials and Methods: In this observational study, the universe consisted of all children that attend 4 special schools for the Deaf in Santiago. The sample consisted of 315 cases, which represent 92 percent of the universe. School records were examined and information was contrasted and completed with and interview with parents or guardians. Conclusions: 63 percent of children suffered from congenital deafness, 9 percent of those due to infection during pregnancy. In 41.5 percent of all cases the cause of deafness was unknown. 13 percent was due to meningitis, and 5.8 percent was due to prematurity.

Perigo silencioso / Silent danger

A surdez é uma deficiência invisível. A diminuição da audição produz uma redução na percepção de sons e dificulta a compreensão das palavras. A população de um modo geral, não percebe que está com problemas auditivos, os quais acarretam zumbidos e dificuldade no entendimento da fala. Uma das causas mais frequentes de perda auditiva é a exposição a ruídos acima do limite tolerável. Os cirugiões-dentistas ficam expostos, durante o trabalho diário, a ruídos intensos que, dependendo da malignitude do som e do tempo de exposição, podem causar lesão às células da orelha interna.