Audiogram Estimation by Auditory Brainstem Response with NB CE-Chirp LS stimulus in Normal Hearing Infants.

Introduction NB CE-Chirp LS was developed to improve the audiogram estimation by auditory brainstem response (ABR) thresholds during audiological assessment of infants and difficult to test children. However, before we know how the stimulus behaves in several types of hearing loss, it is important we know how the stimulus behaves in normal hearing infants. Objective To describe ABR thresholds with NB CE-Chirp LS stimulus for 500, 1,000, 2,000, and 4,000 Hz, as well as the amplitude and absolute latency for ABR thresholds. Methods Auditory brainstem response thresholds were evaluated with the Eclipse EP25 system. NB CE-Chirp LS was presented using an ER-3A insert earphone. EEG filter was 30 Hz high-pass and 1,500 Hz low-pass. The ABR threshold was defined as the lowest intensity capable of clearly evoke wave V, accompanied by an absent response 5 dB below. Results Eighteen normal hearing infants were evaluated. The mean and standard deviation (SD) of the ABR threshold (dB nHL) were: 23.8 (±4.2); 14.4 (±5.7); 6.0 (±5.0); and 7.0 (±5.9). The mean and SD of the absolute latency (ms) were: 8.86 (±1.12); 9.21 (±0.95); 9.44 (±0.78); and 9.64 (±0.52). The mean amplitude (nV) and SD were: 0.123 (±0.035); 0.127 (±0.039); 0.141 (±0.052); and 0.105 (±0.028), respectively, for 500, 1,000, 2,000 and 4,000 Hz. Conclusion Auditory brainstem response threshold with NB CE-Chirp LS reaches low levels, in special for high frequencies. It provides absolute latencies similar between frequencies with robust amplitude. The results obtained brings to the examiner more confidence in the results registered.

Reading and comprehension: phoniatric assessment in students with reading difficulties.

INTRODUCTION: Reading is a highly refined skill that encompasses two main components: decoding graphic symbols and understanding the written message. These aspects generally develop together, but reading comprehension is a much more complex process, sustained not only by the identification of written words and vocabulary but also by language systems, such as syntax and general knowledge. Although there is a well-established technique for performing the phoniatric assessment, there is no common use of tests that assess reading comprehension or the association of this information with other assessment data. OBJECTIVE: The objective of this study is, in the context of the phoniatric consultation, to evaluate the reading and retelling in children with relevant reading difficulties and to correlate the decoding and comprehension problems with the alterations observed in auditory and visual perceptual tests, pointing out the evidence that best contributed to the differential diagnosis of these subjects. METHODS: Starting from a population of 301 children enrolled in the 4th and 5th grades of elementary school, 13 children with evident reading and writing difficulties were evaluated regarding the reading and retelling tasks and separated into groups according to the problem of decoding, fluency, and comprehension. Reading performance was correlated with the performance in visual and auditory perceptual tests and based on the similarity analysis, the tests considered to be the most relevant in the diagnosis process of these children were identified. RESULT: The results suggest that the tasks: naming of figures, repetition of numbers in reverse order, figure copying, syllabic synthesis, phonemic synthesis, rhyme, and phonemic manipulation altogether contribute to diagnosis and multidisciplinary intervention aspects. CONCLUSION: Some tasks are more relevant to the diagnostic process of children with complaints of learning difficulties in reading.

Reading and comprehension: Phoniatric assessment in students with reading difficulties

Abstract Introduction: Reading is a highly refined skill that encompasses two main components: decoding graphic symbols and understanding the written message. These aspects generally develop together, but reading comprehension is a much more complex process, sustained not only by the identification of written words and vocabulary but also by language systems, such as syntax and general knowledge. Although there is a well-established technique for performing the Phoniatric assessment, there is no common use of tests that assess reading comprehension or the association of this information with other assessment data. Objective: The objective of this study is, in the context of the Phoniatric consultation, to evaluate the reading and retelling in children with relevant reading difficulties and to correlate the decoding and comprehension problems with the alterations observed in auditory and visual perceptual tests, pointing out the evidence that best contributed to the differential diagnosis of these subjects. Methods: Starting from a population of 301 children enrolled in the 4th and 5th grades of elementary school, 13 children with evident reading and writing difficulties were evaluated regarding the reading and retelling tasks and separated into groups according to the problem of decoding, fluency, and comprehension. Reading performance was correlated with the performance in visual and auditory perceptual tests and based on the similarity analysis, the tests considered to be the most relevant in the diagnosis process of these children were identified. Result: The results suggest that the tasks: naming of figures, repetition of numbers in reverse order, figure copying, syllabic synthesis, phonemic synthesis, rhyme, and phonemic manipulation altogether contribute to diagnosis and multidisciplinary intervention aspects. Conclusion: Some tasks are more relevant to the diagnostic process of children with complaints of learning difficulties in reading.

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)

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

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 subjects matched 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 are more 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). It means 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.

Tinnitus and sound intolerance: evidence and experience of a Brazilian group / Zumbido e intolerância a sons: evidência e experiência de um grupo brasileiro

Abstract Introduction Tinnitus and sound intolerance are frequent and subjective complaints that may have an impact on a patient's quality of life. Objective To present a review of the salient points including concepts, pathophysiology, diagnosis and approach of the patient with tinnitus and sensitivity to sounds. Methods Literature review with bibliographic survey in LILACS, SciELO, Pubmed and MEDLINE database. Articles and book chapters on tinnitus and sound sensitivity were selected. The several topics were discussed by a group of Brazilian professionals and the conclusions were described. Results The prevalence of tinnitus has increased over the years, often associated with hearing loss, metabolic factors and inadequate diet. Medical evaluation should be performed carefully to guide the request of subsidiary exams. Currently available treatments range from medications to the use of sounds with specific characteristics and meditation techniques, with variable results. Conclusion A review on tinnitus and auditory sensitivity was presented, allowing the reader a broad view of the approach to these patients, based on scientific evidence and national experience.

Resumo Introdução Zumbido e intolerância a sons são queixas frequentes e subjetivas que podem ter impacto na qualidade de vida do paciente. Objetivo Apresentar uma revisão dos principais pontos, inclusive conceitos, fisiopatologia, diagnóstico e abordagem do paciente com zumbido e sensibilidade a sons. Método Revisão da literatura com levantamento bibliográfico na base de dados da LILACS, SciELO, Pubmed e MEDLINE. Foram selecionados artigos e capítulos de livros sobre zumbido e sensibilidade a sons. Os diversos tópicos foram discutidos por um grupo de profissionais brasileiros e as conclusões, descritas. Resultado A prevalência de zumbido tem aumentado ao longo dos anos, muitas vezes associado a perda auditiva, fatores metabólicos e erros alimentares. A avaliação médica deve ser feita minuciosamente no sentido de orientar a solicitação de exames subsidiários. Os tratamentos disponíveis atualmente variam de medicamentos ao uso de sons com características específicas e técnicas de meditação, com resultados variáveis. Conclusão Foi apresentada uma revisão sobre os temas que permitindo ao leitor uma visão ampla da abordagem dos pacientes com zumbido e sensibilidade auditiva baseada em evidências científicas e experiência nacional.

Tinnitus and sound intolerance: evidence and experience of a Brazilian group.

INTRODUCTION: Tinnitus and sound intolerance are frequent and subjective complaints that may have an impact on a patient's quality of life. OBJECTIVE: To present a review of the salient points including concepts, pathophysiology, diagnosis and approach of the patient with tinnitus and sensitivity to sounds. METHODS: Literature review with bibliographic survey in LILACS, SciELO, Pubmed and MEDLINE database. Articles and book chapters on tinnitus and sound sensitivity were selected. The several topics were discussed by a group of Brazilian professionals and the conclusions were described. RESULTS: The prevalence of tinnitus has increased over the years, often associated with hearing loss, metabolic factors and inadequate diet. Medical evaluation should be performed carefully to guide the request of subsidiary exams. Currently available treatments range from medications to the use of sounds with specific characteristics and meditation techniques, with variable results. CONCLUSION: A review on tinnitus and auditory sensitivity was presented, allowing the reader a broad view of the approach to these patients, based on scientific evidence and national experience.

Epidemiology of communication disorders in childhood phoniatric clinical practice / Epidemiologia dos distúrbios de comunicação na infância em clínica foniátrica

INTRODUCTION: Language acquisition and development require an understanding of physical and psychosocial aspects during diagnosis and treatment. At this point, a partnership between phoniatric physicians and other health professionals is often a determinant for favorable prognosis.OBJECTIVE: To identify the clinical and epidemiological characteristics of a pediatric population attending a phoniatric clinical practice.METHODS: Study design: Cross-sectional cohort. Retrospective, epidemiological study of 297 children, seen in phoniatric appointments between 1976 and 2005. Outcome variables were referral origin, gender, age, mean age, diagnosis, and treatment approach.RESULTS: 66% were male and 34% were female, with a mean age of 6.4 years. The largest number of referrals for phoniatric treatments came from speech therapists (38%). The predominant complaint was alteration in speech (35%); the diagnostics in speech, language, and fluency (49.5%) are noteworthy. Considering the total of the patients analyzed, 28.2% were referred for speech therapy and 11.8% for psychotherapy.CONCLUSION: The studied population is predominantly male, the diagnosis points to a higher incidence in cases of impairment in speech, language, and fluency; the most common treatment was speech therapy.

INTRODUÇÃO: Aquisição e desenvolvimento da linguagem demandam cuidados exigindo compreensão dos aspectos orgânicos e psíquicos no diagnóstico e tratamento. Assim, parceria entre foniatra e outros profissionais é, muitas vezes, determinante de um prognóstico favorável.OBJETIVO: Caracterizar clínica e epidemiologicamente os distúrbios de comunicação em crianças na prática clínica.MÉTODO: Coorte transversal histórica. Estudo epidemiológico retrospectivo de 297 prontuários de crianças atendidas em consulta foniátrica no período entre 1976 a 2005. Variáveis: origem do encaminhamento, gênero, média da idade, diagnóstico e conduta para tratamento.RESULTADOS: 66% foram do gênero masculino e 34% do feminino com média de idade de 6,4 anos. Maior número de encaminhamentos foi realizado por fonoaudiólogos (38%). A queixa predominante era de alterações na fala 35% e ressaltam-se os diagnósticos na área da fala, linguagem e fluência (49,5%). Do total destacaram-se os encaminhamentos para: 28,2% fonoterapia e 11,8% psicoterapia.CONCLUSÃO: A população atendida foi predominantemente masculina, o diagnóstico aponta maior incidência em quadros de comprometimento na fala, linguagem e fluência e o tratamento mais indicado foi fonoterapia.

Epidemiology of communication disorders in childhood phoniatric clinical practice.

INTRODUCTION: Language acquisition and development require an understanding of physical and psychosocial aspects during diagnosis and treatment. At this point, a partnership between phoniatric physicians and other health professionals is often a determinant for favorable prognosis. OBJECTIVE: To identify the clinical and epidemiological characteristics of a pediatric population attending a phoniatric clinical practice. STUDY DESIGN: Cross-sectional cohort. Retrospective, epidemiological study of 297 children, seen in phoniatric appointments between 1976 and 2005. Outcome variables were referral origin, gender, age, mean age, diagnosis, and treatment approach. RESULTS: 66% were male and 34% were female, with a mean age of 6.4 years. The largest number of referrals for phoniatric treatments came from speech therapists (38%). The predominant complaint was alteration in speech (35%); the diagnostics in speech, language, and fluency (49.5%) are noteworthy. Considering the total of the patients analyzed, 28.2% were referred for speech therapy and 11.8% for psychotherapy. CONCLUSION: The studied population is predominantly male, the diagnosis points to a higher incidence in cases of impairment in speech, language, and fluency; the most common treatment was speech therapy.

Pediatric phoniatry outpatient ward: clinical and epidemiological characteristics.

UNLABELLED: Children with language or learning impairment and normal hearing need phoniatric assessment to analyse various communication and development aspects targeting the differential diagnosis and therapeutic indications. OBJECTIVE: Characterize clinical and epidemiological features of a pediatric population treated in a phoniatric outpatient clinic. METHOD: A cross-sectional historical cohort study (retrospective study) was performed involving 68 patients undergoing phoniatric consultation. Outcome measures were age, gender, source of referral for phoniatric consultation, phoniatric diagnosis, mean age at diagnosis, neonatal risks, family history of communication disorders and referrals. RESULTS: 70.58% were male and 29.42% female, mean age 6.85 ± 2.49 years. 63.23% from external services and 45.59% had no hearing diagnosis. 14 different diagnoses were performed: 50% had Cerebral Palsy, Specific Language Impairment and Pervasive Developmental Disorder. The difference between the average ages was statistically significant (F = 4.369 p = 0.00). 50% had a family history of communication disorders and 51.47% history of neonatal risk. 51.47% were referred for neurological consultation and 79.41% for therapies. CONCLUSION: The population seen was predominantly male, with more complex language development deviations probably due to multiple etiologies. Many of them had no hearing diagnosis.

Ambulatório de foniatria infantil: características clínicas e epidemiológicas / Pediatric phoniatry outpatient ward: clinical and epidemiological characteristics

Crianças com alteração de linguagem ou aprendizagem e audição normal necessitam uma avaliação foniátrica para analisar os vários aspectos da comunicação e do desenvolvimento visando o diagnóstico diferencial e as indicações terapêuticas. OBJETIVO: Caracterizar clínica e epidemiologicamente uma população pediátrica atendida em ambulatório foniátrico. MÉTODO: Forma de Estudo: coorte histórica com corte transversal. Sessenta e oito pacientes submetidos à consulta foniátrica. As medidas de desfecho foram idade, sexo, origem do encaminhamento para a consulta foniátrica, diagnóstico, idade média dos indivíduos em cada diagnóstico, riscos neonatais, antecedentes familiares para distúrbios da comunicação e encaminhamentos realizados. RESULTADOS: 70,58% do sexo masculino e 29,42% do feminino com idade média de 6,85 ± 2,49 anos. 63,23% oriundos de serviços externos e 45,59% sem diagnóstico auditivo. Foram realizados 14 diagnósticos diferentes. 50% receberam diagnóstico de Paralisia Cerebral, Distúrbio Específico de Linguagem e Transtorno Invasivo do Desenvolvimento. A diferença entre as idades médias foi estatisticamente significativa (F = 4,369 p = 0,00). 50% apre-sentaram história familiar para distúrbios da comunicação e 51,47% de risco neonatal. 51,47% foram encaminhados para uma consulta neurológica e 79,41% para terapias. CONCLUSÃO: A população atendida é predominantemente masculina, com alterações mais complexas de desenvolvimento de linguagem por provável etiologia multifatorial, muitos sem diagnóstico auditivo.

Children with language or learning impairment and normal hearing need phoniatric assessment to analyse various communication and development aspects targeting the differential diagnosis and therapeutic indications. OBJECTIVE: Characterize clinical and epidemiological features of a pediatric population treated in a phoniatric outpatient clinic. METHOD: A cross-sectional historical cohort study (retrospective study) was performed involving 68 patients undergoing phoniatric consultation. Outcome measures were age, gender, source of referral for phoniatric consultation, phoniatric diagnosis, mean age at diagnosis, neonatal risks, family history of communication disorders and referrals. RESULTS: 70.58% were male and 29.42% female, mean age 6.85 ± 2.49 years. 63.23% from external services and 45.59% had no hearing diagnosis. 14 different diagnoses were performed: 50% had Cerebral Palsy, Specific Language Impairment and Pervasive Developmental Disorder. The difference between the average ages was statistically significant (F = 4.369 p = 0.00). 50% had a family history of communication disorders and 51.47% history of neonatal risk. 51.47% were referred for neurological consultation and 79.41% for therapies. CONCLUSION: The population seen was predominantly male, with more complex language development deviations probably due to multiple etiologies. Many of them had no hearing diagnosis.

Atypical manifestation of vestibular schwannoma.

Introduction Vestibular schwannoma (also known as acoustic neuroma) is a benign tumor whose cells are derived from Schwann sheaths, which commonly occurs from the vestibular portion of the eighth cranial nerve. Furthermore, vestibular schwannomas account for ∼8% of intracranial tumors in adults and 80 to 90% of tumors of the cerebellopontine angle. Its symptoms are varied, but what stands out most is a unilateral sensorineural hearing loss, with a low index of speech recognition. Objective Describe an atypical manifestation of vestibular schwannoma. Case Report The 46-year-old woman had vertigo and binaural hearing loss and fullness, with ear, nose, and throat examination suggestive of cochlear injury. After 6 months, the patient developed worsening of symptoms and onset of right unilateral tinnitus. In further exams the signs of cochlear damage remained, except for the vestibular test (hyporeflexia). Magnetic resonance imaging showed an expansive lesion in the right cerebellopontine angle. Discussion This report warns about the atypical manifestations of vestibular schwannoma, which must always be remembered in investigating and diagnosing hearing loss.

Atypical Manifestation of Vestibular Schwannoma

Vestibular schwannoma (also known as acoustic neuroma) is a benign tumor whose cells are derived from Schwann sheaths, which commonly occurs from the vestibular portion of the eighth cranial nerve. Furthermore, vestibular schwannomas account for ∼8% of intracranial tumors in adults and 80 to 90% of tumors of the cerebellopontine angle. Its symptoms are varied, but what stands out most is a unilateral sensorineural hearing loss, with a low index of speech recognition. Objective: Describe an atypical manifestation of vestibular schwannoma. Case Report: The 46-year-old woman had vertigo and binaural hearing loss and fullness, with ear, nose, and throat examination suggestive of cochlear injury. After 6 months, the patient developed worsening of symptoms and onset of right unilateral tinnitus. In further exams the signs of cochlear damage remained, except for the vestibular test (hyporeflexia). Magnetic resonance imaging showed an expansive lesion in the right cerebellopontine angle. Discussion: This report warns about the atypical manifestations of vestibular schwannoma, which must always be remembered in investigating and diagnosing hearing loss...

Chloral hydrate to study auditory brainstem response.

UNLABELLED: Chloral Hydrate (CH) is a sedative and hypnotic drug used in pediatric procedures owing to the low depressive effect it has on the respiratory and cardiac systems. AIM: To assess the efficacy of the drug in performing ABR and to systematize its use. MATERIALS AND METHODS: A prospective cross-sectional study with 41 children without history of heart or lung disease. The initial dose of CH at 10% was 50 mg/Kg, with a boost dose of 6 mg/Kg administered 30 minutes later in cases in which there was no sedation. Drug effectiveness was established by sleep induction by 1 hour after the administration of the initial dose. Sleep occurrence was correlated with doses (50 mg or 56 mg/Kg), age, weight and gender. RESULTS: All the 41 children who participated in the study took 50 mg/kg of the agent and 23 of them slept within 30 minutes, 2 had respiratory complications, 16 had the 6 mg/Kg boost dose and 13 fell asleep after 30 minutes. The 56 mg/kg dose presented a statistically significant effect on sleep induction (p<0.05) when compared to the 50mg/kg dose. CONCLUSION: CH produced a satisfactory effect with 50 mg/Kg dose plus 6 mg/kg up to one hour after administration. Complications can occur regardless of the dose used.

Hidrato de cloral para captação dos Potenciais Elétricos Auditivos / Chloral Hydrate to Study Auditory Brainstem Response

O Hidrato de cloral é um sedativo usado em procedimentos pediátricos devido à pouca depressão respiratória e cardíaca. OBJETIVO: Avaliar a eficácia da droga para a captação do PEATE e sistematizar o seu emprego. MATERIAL E MÉTODO: Estudo prospectivo transversal com 41 crianças. A dose inicial de HC 10 por cento foi de 50mg/kg com reforço de 6 mg/kg administrado após 30 minutos nos casos onde não houve sedação. A efetividade da droga foi determinada pela indução do sono até 1 hora após a administração da dose inicial. A ocorrência de sono foi correlacionada com as doses (50mg ou 56mg/kg), a idade, o peso e o sexo. RESULTADOS: As 41 crianças que participaram do estudo tomaram 50mg/kg e 23 dormiram em 30 minutos, 2 apresentaram depressão respiratória; 16 crianças tomaram reforço de 6mg/kg e 13 dormiram em mais 30 minutos. A dose total de 56mg/kg apresentou um efeito estatisticamente significante na indução do sono (p<0,05) em comparação com a dose de 50mg/kg. CONCLUSÃO: O HC é uma droga com um bom efeito satisfatório com a dose de 50mg/kg seguida de mais 6mg/kg em até uma hora após a administração. Complicações podem ocorrer, independente da dose usada. ClinicalTrials.gov Identifier: NCT 00949780.

Chloral Hydrate (CH) is a sedative and hypnotic drug used in pediatric procedures owing to the low depressive effect it has on the respiratory and cardiac systems. AIM: To assess the efficacy of the drug in performing ABR and to systematize its use. MATERIALS AND METHODS: A prospective cross-sectional study with 41 children without history of heart or lung disease. The initial dose of CH at 10 percent was 50mg/Kg, with a boost dose of 6mg/Kg administered 30 minutes later in cases in which there was no sedation. Drug effectiveness was established by sleep induction by 1 hour after the administration of the initial dose. Sleep occurrence was correlated with doses (50mg or 56mg/Kg), age, weight and gender. RESULTS: All the 41 children who participated in the study took 50mg/kgof the agent and 23 of them slept within 30 minutes, 2 had respiratory complications, 16 had the 6mg/Kg boost dose and 13 fell asleep after 30 minutes. The 56 mg/kg dose presented a statistically significant effect on sleep induction (p<0.05) when compared to the 50mg/kg dose. CONCLUSION: CH produced a satisfactory effect with 50 mg/Kg dose plus 6mg/kg up to one hour after administration. Complications can occur regardless of the dose used.

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

The OTOF gene encoding otoferlin is associated with auditory neuropathy (AN), a type of non-syndromic deafness. We investigated the contribution of OTOF mutations to AN and to non-syndromic recessive deafness in Brazil. A test for the Q829X mutation was carried out on a sample of 342 unrelated individuals with non-syndromic hearing loss, but none presented this mutation. We selected 48 cases suggestive of autosomal recessive inheritance, plus four familial and seven isolated cases of AN, for genotyping of five microsatellite markers linked to the OTOF gene. The haplotype analysis showed compatibility with linkage in 11 families (including the four families with AN). Samples of the 11 probands from these families and from seven isolated cases of AN were selected for an exon-by-exon screening for mutations in the OTOF gene. Ten different pathogenic variants were detected, among which six are novel. Among the 52 pedigrees with autosomal recessive inheritance (including four familial cases of AN), mutations were identified in 4 (7.7%). Among the 11 probands with AN, seven had at least one pathogenic mutation in the OTOF gene. Mutations in the OTOF gene are frequent causes of AN in Brazil and our results confirm that they are spread worldwide.

Afecções vasculares do osso temporal: diagnóstico diferencial e tratamento / Vascular affection of temporal bone: differential diagnostic and therapeutic approach

Introdução: As afecções vasculares do osso temporal cursam com história clínica e exame físico semelhantes e podem ser diferenciados através de exames de imagem, os mais comuns são: paragangliomas, bulbo de jugular alto e artéria carótida aberrante. Os paragangliomas são tumores bem vascularizados formados por capilares e pré-capilares interpostos por células de origem neuroectodérmica. O bulbo jugular é a região anatômica correspondente à união do seio sigmóide e da veia jugular interna e é denominado bulbo de jugular alto quando há protusão da veia jugular interna para o interior da cavidade timpânica. A artéria carótida interna normalmente penetra no osso petroso pelo canal carotídeo separada da veia jugular interna pela bainha carotídea, no segmento vertical inicial está separada da orelha média por uma placa óssea. O trajeto anormal da artéria carótida interna pode ser explicado por malformação embrionária que impede a formação da placa óssea. Objetivo: O objetivo deste estudo é relatar cinco casos de afecções vasculares do osso temporal e discutir o diagnóstico diferencial e tratamento destas lesões.

Introduction: The vascular affections of temporal bone follow similar clinical symptoms and signs and can be distinguished through radiological investigation. The usual ones are: paraganglioma, high jugular bulb and aberrant internal carotid artery. The paraganglioma are vascular tumor formed by capillaries and pre-capillaries vessels originating from neuroectodermical cells. The jugular bulb is the anatomic point which joins sigmoid sinus and jugular vein; it is called high jugular bulb when the jugular vein protrudes into tympanic cavity. The carotid artery enters the etrous bone through the carotid canal that is apart from jugular vein by carotid sheath, in initial vertical segment it is apart from the middle ear by a bone plate. The abnormal course of the carotid artery can be explained by an embryological malformation that prevents bone plate formation. Objective: The target of this study is to report five cases of vascular affections of temporal bone and to discuss their differential diagnostic and therapeutic approach.

Empiema subdural: complicação de rinossinusite aguda / Subdural empyema: rhinossinusitis complications

Complicações intracranianas das rinossinusites são a extensão do processo infeccioso para estruturas adjacentes, ocorrendo em um pequeno, mas significante número de pacientes. Dentre as de origem nasossinusal o empiema...

Intracranial complications of the sinusitis are the extension of the infectious process for adjacent structures, happening in a small, but significant number of patients. Among the one of nasossinusal origin the subdural empyema...

Empiema subdural: complicação de rinossinusite aguda / Subdural empyema: a complication of acute rhinosinusitis

Introdução: complicações intracranianas das rinossinusites são a extensão do processo infeccioso para estruturas adjacentes, ocorrendo em um pequeno, mas significante número de pacientes. Dentre as de origem nasossinusal o empiema subdural representa uma das formas mais comumente encontradas, apresentando significativa morbidade e mortalidade. Objetivos: relatar o caso de uma paciente com empiema subdural decorrente de rinossinusite, que evoluiu favoravelmente com o tratamento preconizado. Caso clínico: paciente, 13 anos de idade, sexo masculino, branco, com cefaléia frontal de forte intensidade, contínua, evoluindo com rigidez de nuca, e crise convulsiva tônico-clônica generalizada. Iniciou-se tratamento com antibioticoterapia de amplo espectro, corticoterapia e anticonvulsivantes. Associou-se tratamento cirúrgico com sinusectomia endoscópica associada à drenagem do empiema frontal por craniotomia. Conclusões: o empiema subdural como complicação intracraniana devido à sinusopatia apresenta morbidade e mortalidade consideráveis, devendo ser encarado como urgência e a ela se dispensar tratamento agressivo e multidisciplinar. São mais comuns em pacientes jovens do sexo masculino, apresentando sintomas inespecíficos, devendo-se permanecer atento as sinusopatias que respondem mal ao tratamento clínico. A tomografia permanece como primeiro exame complementar para seu diagnóstico. O tratamento é baseado em antibioticoterapia de amplo espectro por tempo prolongado, associado à abordagem cirúrgica tanto otorrinolaringológica quanto neurológica (AU)

Afecções vasculares do osso temporal: diagnóstico diferencial e tratamento / Vascular disorders of the temporal bone: differential diagnosis and treatment

Introdução: as afecções vasculares do osso temporal cursam com história clínica e exame físico semelhantes e podem ser diferenciados através de exames de imagem, os mais comuns são: paragangliomas, bulbo de jugular alto e artéria carótida aberrante. Os paragangliomas são tumores bem vascularizados formados por capilares e pré-capilaresinterpostos por células de origem neuroectodérmica. O bulbo jugular é a região anatômica correspondente à união do seio sigmóide e da veia jugular interna e é denominado bulbo de jugular alto quando há protusão da veia jugular interna para o interior da cavidade timpânica. A artéria carótida interna normalmente penetra no osso petroso pelo canal carotídeo separada da veia jugular interna pela bainha carotídea, no segmento vertical inicial está separada da orelha média por uma placa óssea. O trajeto anormal da artéria carótida interna pode ser explicado por malformação embrionária que impede a formação da placa óssea. Objetivo: o objetivo deste estudo é relatar cinco casos de afecções vasculares do osso temporal e discutir o diagnóstico diferencial e tratamento destas lesões (AU)