Otologic disorders and management strategies in Turner syndrome / 中华耳鼻咽喉头颈外科杂志

Objective: To analyze the incidence and risk factors of otologic disorders in patients with Turner syndrome (TS), so as to provide management strategies for ear health. Methods: This study is a prospective study based on questionnaires and a cross-sectional study. The TS patients who visited our hospital from 2010 January to 2021 March were included (A total of 71 patients with TS were included in this study. the age of TS diagnosed was 3- to 11-year-old, age of visiting ENT department was 4- to 27-year-old) and the incidence of otologic diseases in different age groups was investigated by questionnaires. The cross-sectional study included ear morphology and auditory function assessment, and further analysis of the risk factors that related to ear disease. Prism was used for data analysis. Results: The investigation found that the incidence of acute otitis media in patients aged 3-6 and 7-12 years was higher than that of patients over 12 years old, which was 33.8%(24/71), 42.9%(30/70)and 23.5%(8/34), respectively; 21.1% (15/71) of patients were recurrent acute otitis media in patients aged 3-6 years, and about 46.6% (7/15)of them persisted beyond 6-year. The prevalence of otitis media with effusion in the three groups was 32.4%(23/71), 34.3%(24/70)and 38.2%(13/34), respectively; the recurrence rate of tympanocentesis was 100%(7/7), 42.9%(3/7)and 50.0%(1/2), which was significantly higher than that of grommet insertion. For age groups of 3-6 and 7-12 years, the prevalence of acute otitis media and secretory otitis media was lower in the X chromosome structure abnormal patients; while for patients older than 12 years, otitis media with effusion was the highest prevalence in Y-chromosome-containing karyotypes. In addition, the prevalence of acute otitis media and otitis media with effusion in patients with other system diseases were increased significantly. A cross-sectional study found that 7.0% (5/71)of the lower auricular, 4.2% (3/71)of the external auditory canal narrow, and 38.0% (27/71)of the tympanic membrane abnormality. 35.2%(25/71) had abnormal hearing, including 17 cases of conductive deafness, 6 cases of sensorineural hearing loss, and 2 cases of mixed deafness. The rest of the patients had normal hearing, but 6 of them had abnormalities in otoacoustic emission. Eustachian tube function assessment found that the eustachian tube dysfunction accounted for 38%(27/71). Hearing loss and abnormal Eustachian tube function were not significantly related to karyotype(Chi-square 2.83 and 2.84,P value 0.418 and 0.417), but significantly related to other system diseases(Chi-square 13.43 and 7.53,P value<0.001). Conclusions: The incidence of TS-related otitis media and auditory dysfunction is significantly higher than that of the general population. It not only occurs in preschool girls, but also persists or develops after school age. Accompanied by other system diseases are risk factors for ear diseases. Clinicians should raise their awareness of TS-related ear diseases and incorporate ear health monitoring into routine diagnosis and treatment.

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.

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)

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.

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.

Hearing Restoration in Neurofibromatosis Type II Patients

Patients with neurofibromatosis type II will eventually succumb to bilateral deafness. For patients with hearing loss, modern medical science technology can provide efficient hearing restoration through a number of various methods. In this article, several hearing restoration methods for patients with neurofibromatosis type II are introduced.

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.

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.

The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar.

Families with at least 2 or more individuals having hereditary hearing loss were enrolled from different areas of Khyber Pakhtoonkhwa, mainly from district Peshawar. Detailed history was taken from each family to minimize the presence of other abnormalities and environmental causes for deafness. Families were questioned about skin pigmentation, hair pigmentation, and problems relating to balance, vision, night blindness, thyroid, kidneys, heart, and infectious diseases like meningitis, antibiotic usage, injury, and typhoid. The pedigree structures were based upon interviews with multiple family members, and pedigrees of the enrolled families were drawn using Cyrillic program (version 2.1). All families showed recessive mode of inheritance. I studied 8 families of these 10. For linkage analyses, studies for DFNB1 locus, 3 STR markers (D13S175, D13S292, and D13S787) were genotyped using polyacrylamide gel electrophoresis (PAGE) and haplotypes were constructed to determined, linkage with DFNB1 locus. From a total of 8 families, a single family-10 showed linkage to DFNB1 locus.

Inbreeding as a cause for deafness: Dadhkai study.

BACKGROUND: We report on the higher prevalence of deaf-mutes from a village in Jammu and Kashmir State of India. MATERIALS AND METHODS: A cross-sectional study among 79 deaf mutes using pedigree analysis, audiometry, imaging and molecular analysis. RESULTS: A high rate of hereditary deafness with 79 individuals diagnosed to be suffering from non-syndrome deafness in a total population of 2452 individuals residing in the village. INTERPRETATION: Flourishing of intermarriages led to a population with high prevalence of deafness.

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.

Perfil etiológico dos pacientes implantados do Programa de Implante Coclear / Etiology profile of the patients implanted in the cochlear implant program

Averiguar os principais agentes etiológicos que causaram a surdez nessa população em estudo é de grande relevância para o prognóstico do tratamento e serve de amostragem para futuras ações de saúde pública. OBJETIVO: Verificar as diferentes etiologias da deficiência auditiva dos pacientes implantados do programa de implante coclear; realizar o levantamento das etiologias encontradas; correlacionar a etiologia com a idade. MATERIAL E MÉTODO: Estudo de coorte histórico longitudinal com base na análise de 200 prontuários dos pacientes submetidos à cirurgia de Implante Coclear, realizada no período de agosto de 2000 a maio de 2008. Os dados coletados foram referentes a: idade, sexo, estado de origem, etiologia da deficiência auditiva. RESULTADOS E CONCLUSÃO: Pode-se afirmar que a etiologia desconhecida continua prevalecendo, o que indica a necessidade da realização de estudos genéticos nos casos de surdez neurossensorial congênita sem causa aparente com objetivo de chegar a um real perfil etiológico. A rubéola foi a segunda causa mais encontrada e para essa etiologia já existem medidas preventivas igualmente à meningite. Mesmo assim as incidências dessas patologias continuam altas. Na correlação entre as diferentes etiologias e faixas etárias, constatamos etiologias variadas principalmente na comparação de crianças; adultos jovens; adultos e idosos.

To investigate the major etiological agents that caused deafness in the studied population is of great relevance to prognostic and treatment purposes and it serves as sampling for future actions in the public health. AIM: to check the different hearing impairment etiologies of patients in the cochlear implant program; we studied the etiologies described in order to correlate etiology with age. MATERIALS AND METHODS: Longitudinal historical cohort study which analyzed 200 charts from patients submitted to cochlear implantation in the program between August of 2000 and May of 2008. Collected data: age; gender; state of birth; hearing impairment etiology. RESULTS AND CONCLUSION: Unknown etiology prevailed as main cause, and this indicates the need to continue carrying out genetic studies in those cases of congenital sensorineural hearing loss without an apparent cause in order to trace and etiological profile. Rubella was the second most found cause, and for this etiology there already are preventive measures as there are for meningitis. Even then, the incidences of these diseases remain high. In the correlation of the different etiologies and age ranges, we noticed varied etiologies when we compared children, young adults, adults and the elderly.

[Study of deafness associated with DFNB59 gene [Pejvakin] mutation in Fars province]

Hearing loss is the most frequent sensory disorder affecting 1 in 500 neonates with more than 50% of inherited cases. This trait is a very heterogeneous disorder and happens due to genetic or environmental causes or both. More than 46 genes may be involved in non-syndromic hearing loss. Recently, DFNB 59 gene has been shown to cause deafness in some Iranian populations. The aim of this study was to determine the role of DFNB 59 gene mutations causing deafness in a group of 130 deaf pupils in Fars province. This descriptive-laboratory based study investigated the frequency of DFNB59 gene mutations using PCR-SSCP/HA strategy. Two different DFNB59 polymorphism including 874G>A and 793C>G were found in 1 and 9 of 130 patients studied respectively. However, no DFNB59 mutation was identified. The results of this study shows that the association of DFNB59 mutations with deafness in Fars province is very low

Implante coclear: correlação da recuperação neural, privação auditiva e etiologia / Cochlear implant: correlation of nerve function recovery, auditory deprivation and etiology

TEMA: a Função de Recuperação do Nervo Auditivo (REC) pode ser extraída do potencial de ação das fibras neurais - ECAP (Eletrically Evoked Compound Action Potential). O ECAP pode ser influenciado pela estimulação recebida pelo nervo e pela etiologia de uma perda auditiva e, consequentemente, afetar a REC. OBJETIVO: verificar se há correlação entre REC e os fatores: etiologia, tempo de surdez e tempo de uso do AASI antes do Implante Coclear (IC). MÉTODO: estudo retrospectivo transversal. Foram coletados dados sobre etiologia, tempo de surdez, tempo de uso do Aparelho de Amplificação Sonora Individual (AASI) e REC de 50 indivíduos, 26 crianças e 24 adultos, submetidos à cirurgia de IC e usuários do dispositivo multicanal Nucleus®24. As medidas da função de recuperação do nervo auditivo foram calculadas e os pacientes foram divididos em grupos (GI: recuperação rápida, GII: recuperação intermediária e GIII: recuperação lenta) para posterior análise de relação com os demais dados coletados. RESULTADOS: a análise dos dados não mostrou correlação estatisticamente significante entre a recuperação e os aspectos pré-cirúrgicos estudados. Entretanto, foi possível observar maior concentração de ambos, crianças e adultos, nas REC intermediárias. GI não agrupou indivíduos com surdez de etiologias infecciosas, tais como a meningite, rubéola e citomegalovírus. A média de REC apresentou-se mais lenta para as etiologias infecciosas, tanto para o grupo de crianças, como para o grupo de adultos. CONCLUSÃO: não houve correlação estatisticamente significante entre função de recuperação do nervo auditivo e os fatores: etiologia, tempo de surdez e tempo de uso do AASI antes do IC.

BACKGROUND: the Auditory Nerve Recovery Function (REC) may be extracted from the Electrically Evoked Compound Action Potential (ECAP). ECAP may be influenced by the stimulation received (or the deprivation of stimulation) and by the etiology of the hearing loss, consequently it might affect the REC. AIM: to verify whether there is a correlation between the REC and each of the following factors: etiology, time of auditory deprivation and time of hearing aid use before cochlear implantation (CI). METHOD: retrospective study. Data regarding etiology, time of auditory deprivation, time of hearing aid use before cochlear implantation were collected in children and adults who received a Nucleus®24. All patients who presented neural response at surgery and whose REC was assessed intraoperatively were included in this study. Fifty patients were selected, 26 children and 24 adults. Patients were divided according to the REC classification into three groups (GI: fast recovery; GII: intermediate recovery and GIII: slow recovery) to allow correlation analysis. RESULTS: data analysis did not show any statistically significant correlation between the recovery function and the pre-implant studied characteristics. Nevertheless, it was observed that there was a greater concentration of both, children and adults, in the intermediate recovery function values. GI did not present individuals with infectious etiologies, such as meningitis, rubella and cytomegalovirus. REC average scores were slower in infectious etiologies for both children and adults. CONCLUSION: there was no statistically significant correlation between the recovery function and factors such as etiology, time of auditory deprivation and time of hearing aid use prior to CI.

Conhecimento de ginecologistas e pediatras de hospitais públicos do Recife a respeito dos fatores de risco para surdez / The knowledge of gynecologists and pediatricians from Recife public hospitals about hight risk factors for deafness

A audição é uma das principais formas de ligação entre o ser humano e o ambiente no qual ele vive, porém, a deficiência auditiva ainda é diagnosticada tardiamente no Brasil interferindo diretamente no desenvolvimento global da criança. OBJETIVO: Verificar o conhecimento de pediatras e ginecologistas a respeito dos fatores de risco para a surdez, o modo de aquisição do conhecimento e ocorrência de orientação aos pais a respeito do tema. MATERIAL E MÉTODO: Participaram 119 médicos, pertencentes a três hospitais públicos da cidade do Recife. Foi aplicada uma entrevista, antes e após campanha de esclarecimento sobre o tema. O estudo foi descritivo, transversal, tipo série de casos. A análise dos dados foi descritiva. RESULTADOS: Constatou-se que apenas 3 dos 18 fatores de risco para surdez listados obtiveram respostas acima de 50 por cento na etapa inicial e 53,84 por cento dos profissionais faziam orientações as famílias. Todas as respostas aumentaram na segunda etapa. CONCLUSÃO: Existe uma maior necessidade de campanhas de orientação, as ações de atenção primária à surdez constituem o meio mais barato e eficaz no combate a perda auditiva. Os otorrinolaringologistas e fonoaudiólogos devem estar presentes desempenhando trabalho educativo e de diagnóstico que visa intervenção o mais cedo possível.

Hearing is one of the main forms of connection between human being and the environment; however, hearing loss is still diagnosed very late in Brazil, which directly interferes with the child's development. AIM: The aim of this study was to check the knowledge pediatricians and gynecologists have about the risk factors for the deafness, the way they acquired such knowledge and parent education about the subject. MATERIALS AND METHODS: We enrolled 119 doctors from three public hospitals of the city of Recife. An interview was applied, before and after the educational campaign on the matter. The study was descriptive, cross-sectional, case series-type. Data analysis was descriptive and inferential. RESULTS: The results showed that only 3 of the 18 hearing loss risk factors listed had gotten answers above 50 percent in the initial stage of the study and 53.84 percent of the professionals educated the families. All the answers had increased in the second stage. CONCLUSION: The results emphasize the need to pay more attention to this matter; therefore, primary care is an inexpensive and efficient way to fight hearing loss.

Manifestações clínicas na Policondrite Recidivante: relato de caso / Clinical manifestations of Relapsing Polychondritis: case report

A Policondrite Recidivante - PR é uma afecção sistêmica grave, de natureza imunológica, caracterizada por um processo inflamatório que acomete as estruturas cartilaginosas nasais e auriculares, vias aéreas superiores e articulações periféricas. O diagnóstico é basicamente clínico e as complicações otorrinolaringológicas podem ser as manifestações iniciais da doença. Tendo em vista a raridade da doença, objetivou-se descrever um caso de PR, atendida no Hospital das Clínicas da UFG em agosto de 2006. Para tanto, as etapas seqüenciais do atendimento foram descritas desde a consulta inicial, diagnóstico, tratamento até a alta hospitalar. As dificuldades vivenciadas pelos profissionais em dar seguimento ao tratamento, em função da resistência da paciente, provavelmente colaborou para agravamento da doença, culminando em seu óbito. O clínico deve estar atento frente a suspeita clínica de Policondrite Recidivante visando o seu diagnóstico precoce e tratamento.

The Relapsing Polychondritis - RP is a rare systemic affection, of immunological nature, characterize by an inflammatory process that affects cartilaginous structures, upper airway and peripheral articulation. The diagnosis is basically clinical and the otorhinolaryngological complications can be the initial manifestations of the illness. Having in view the rarity of the disease, it was objectified to describe a PR case attended at Hospital das Clínicas of UFG in august of 2006. Therefore, the sequential stages of the attendance had been described since the initial appointment, diagnosis, high treatment until the hospital one. The difficulties lived deeply for the professionals to proceed the treatment, in function of the resistance of the patient, probably collaborated for aggravation of the illness, culminating in its death. The physician must be alert in the presence of the clinical suspicion of Relapsing Polychondritis aiming at its precocious diagnosis and treatment.

La Policondrite Recidivante - PR es una afección sistémica grave, de naturaleza inmunológica. Caracterizada un proceso inflamatorio que acomete estructuras cartilaginosa nasales, vías aereas superiores y articulaciones periféricas. El diagnóstico es basicamente clínico y las complicaciones otorrinolaringológicas pueden ser las manifestaciones iniciales de la enfermedad. Esta enfermedad por ser rara, se objetivó describir un caso de PR, atendida en El Hospital de las Clínicas de La UFG en agosto de 2006. Para tanto, las etapas secuenciales del atendimiento fueron descritas desde la consulta inicial, diagnóstico, tratamiento hasta la alta hospitalar. Las dificultades vividas por los profesionales en dar seguimiento al tratamiento, en función de La resistencia de La paciente, probablemente colaboro para el agravamiento de la enfermedad, culminando en su óbito. El clínico debe estar atento frente a la sospecha clínica de Policondrite Recidivante visando su diagnóstico precoz y tratamiento.