Screening of voice disorders concerning anatomy teachers who use formaldehyde cadaveric parts in laboratory classes.

Voice disorders are common among teachers and, in particular, anatomy teachers are exposed to a potential enemy for dysphonia, irritating chemicals, that is, formaldehyde. We seek to verify the association between: (1) teaching time, (2) type of cadaveric conservation to which the teacher is exposed and (3) hours of exposure to cadaveric preservative related to the different categories of voice disorders screening (ITDV). The sample consisted of 111 teachers who answered to 02 data collection instruments: I - Sociodemographic Data; II - ITDV. Among participating teachers there were 71 male and 40 female, with an average age of 43 years and 11 months and an average teaching time of 16 years and 5 months. Association tests between teaching time and ITDV demonstrate a significant result in the relationship between voice failure and teaching time (p<0.05). All 111 teachers use their voices in laboratory classes and use cadaveric material. From those, 107 teachers are exposed to formaldehyde as cadaveric parts' conservative solution. There was a significant association (p<0.05) between voice failure and the type of cadaveric conservative solution but non-significant relationship (p>0.05) between ITDV and the time of exposure to formaldehyde preservative. Teachers' ITDV showed vocal signs and symptoms. In particular, voice loss due to time of teaching in anatomy, and voice failure, due to exposure to formaldehyde and combinations used in anatomical parts and cadavers, were significant.

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.

Distúrbios respiratórios do sono: relação com as doenças cardiovasculares / Respiratory sleep disorders: relation with cardiovascular diseases

Introdução: A síndrome da apneia e hipopneia obstrutiva do sono (SAHOS) é caracterizada pela obstrução parcial ou completa da via aérea superior durante o sono, e está relacionada ao início, progressão e gravidade das doenças cardiovasculares. Objetivos: Avaliar os sintomas de SAHOS em pacientes em acompanhamento de doenças cardiovasculares. Métodos: Avaliação de 3 questionários - índice de qualidade de sono de Pittsburgh (Anexo 2), questionário de Berlin (Anexo 3) e escala de sonolência de Epworth (ESE) (Anexo 4) contemplando sexo, faixa etária, IMC, CC, queixas relacionadas a distúrbios do sono, doenças sistêmicas como HAS, DM, cardiopatia e quantidade de medicamentos utilizados. Resultados: Total de 231 pacientes participantes, 66,23% apresentando baixa qualidade do sono, 24,68% com risco de SAHOS e 31,7% com sonolência diurna excessiva. Discussão: A associação entre SAHOS e doenças cardiovasculares é cada vez maior devido ao aumento dos diagnósticos de SAHOS, que apesar de ser uma doença sistêmica comum, ainda permanece subdiagnosticada. O combate aos fatores de risco comportamentais associados ao tratamento dos fatores de risco intermediários e da SAHOS levam à redução do risco cardiovascular. Conclusão: A prevalência de sintomas relacionados à SAHOS se mostrou moderadamente prevalente nos pacientes com doenças cardiovasculares ou com seus fatores de risco.

Objectives: To evaluate symptoms related to Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) in patients with cardiovascular disease (CVD) and its relation with personal characteristics and medication use. Methods: The Pittsburgh sleep quality index (PSQI), Berlin questionnaire (BQ) and Epworth sleepiness scale (ESS) were used, including variables such as gender, body mass index, systemic arterial hypertension, cardiopathy and amount of medicines used, from January to October/2017, and performed data analysis. Results: A total of 231 patients participated, 66.23% presented poor sleep quality; 24.68% high risk of OSAHS and 31.7% excessive daytime sleepiness (EDS). The BQ showed a higher chance of a high risk for OSAHS in pre-obese and obese I-degree. The ESS showed an increase in EDS with the reduction of 1 medication for cardiopathy. The PSQI showed a higher chance of poor sleep quality in females than not male. Discussion: Other than this study, the literature shows that EDS can result from the use of drugs for heart disease and hypertension. The literature shows that overweight and obesity increase the chance of systemic arterial hypertension, moreover, this research showed that weight also had a greater influence on the high risk of OSAHS. This shows that overweight and obesity are risk factors for systemic arterial hypertension, OSAHS and CVD. This study evidenced, as well as the literature, poorer sleep quality in females.

Análise de zumbido em pacientes com diagnóstico de alça Vascular De VIII par craniano à ressonância nuclear magnética / Analysis of tinnitus in patients diagnosed with vascular loop of the viii cranial nerve on magnetic resonance imaging

Analisar e correlacionar sinais e sintomas auditivos, com ênfase no zumbido, achados audiológicos e sua incidência em indivíduos com alça vascular (AV) de VII/VIII par demonstrado por imagens de RNM de ângulo ponto cerebelar, classificando-os segundo Chavda. Estudo retrospectivo e transversal por meio da análise de dados clínicos dos prontuários de 15 pacientes, correlacionando queixas auditivas e otológicas com resultados encontrados nos exames complementares de Audiometria e RNM a que foram submetidos. Os pacientes que apresentavam alteração do trajeto dos vasos que penetram no MAI, formando alça vascular de VII e/ou VIII par craniano, foram classificados segundo Chavda. Todos os pacientes tinham exame de RNM com diagnóstico de alça vascular do VIII par. Onze deles (73,33%) eram bilaterais. Em 5 pacientes, houve concordância da queixa com os achados à RNM: sintomas bilaterais e alça vascular bilateral. O zumbido gerado pelas estruturas para-auditivas vasculares também são denominados zumbidos pulsáteis. Esses estados levam a fluxo turbulento, gerando o zumbido, que por sua vez é síncrono com o pulso do paciente. Há estudos demonstrando que não há correlação entre zumbido e contato vascular com o VIII par. Encontramos presença de zumbido em aproximadamente 80% dos pacientes com alça vascular, mas nem sempre a queixa coincidiu com a patologia, sendo difícil, portanto, correlacionar queixa e patologia. A presença de alça vascular na RNM não é patológica, mas um achado de exame. A presença do conflito neurovascular do VII/VIII par craniano nas imagens de RNM não justificou por si só os sinais e sintomas otoneurológicos e as al-terações audiovestibulares encontradas nos indivíduos avaliados neste estudo.

To analyze and correlate auditory signs and symptoms, emphasising tinnitus, audiological findings, and their incidence in individuals with vascular loop (AV) of VII/VIII pair demonstrated by MRI images of the cerebellopontine angle, classifying them according to Chavda. A retrospective and cross-sectional study by analyzing clinical data from the medical records of 15 patients, correlating hearing and otological complaints with results found in the complementary tests of Audiometry and MRI. Patients who presented alterations in the path of the vessels that penetrate the IAC, forming a vascular loop of the VII and/or VIII cranial nerve, were classified according to Chavda. All patients had an MRI with a vascular loop of the VIII pair diagnosed. Eleven of them (73.33%) were bilateral. In 5 patients, there was an agreement between the complaint and the MRI findings: bilateral symptoms and bilateral vascular loop. Tinnitus generated by vascular para-auditory structures is also called pulsatile tinnitus. These conditions lead to turbulent flow that causes tinnitus, synchronous with the patient's pulse. There are studies demonstrating there is no correlation between tinnitus and vascular contact with the VIII pair. We found the presence of tinnitus in approximately 80% of patients with vascular loop, but the complaint did not always coincide with the pathology, making it hard to correlate complaints and pathology. The presence of a vascular loop on MRI is not pathological but an examination finding. The neurovascular conflict of the VII/VIII cranial nerve present in the MRI images did not alone justify the otoneurological signs and symptoms and the audiovestibular alterations found in the individuals evaluated in this study.

Relato de caso: adenoma pleomórfico nasal / Nasal pleomorphic adenoma: a case report

INTRODUÇÃO: O adenoma pleomórfico é o tumor misto glandular benigno mais comum das glândulas salivares, raramente encontrado na cavidade nasal. A apresentação clínica típica é de obstrução nasal unilateral associada à epistaxe e à presença de uma massa polipoide, lisa, lobulada e firme na fossa nasal. O diagnóstico é feito por exame anatomopatológico, e o tratamento de escolha é cirúrgico, com ressecção do tumor com margem de segurança. RELATO DE CASO: O caso relatado é de uma paciente de 49 anos, com adenoma pleomórfico nasal, diagnosticado e tratado cirurgicamente. CONCLUSÃO: A importância do caso relatado reside na raridade do tumor nessa localização, sendo um diagnóstico diferencial que deve ser lembrado para os tumores nasais

INTRODUCTION: The pleomorphic adenoma is the most common benign mixed tumor of salivary glands, rarely found in the nasal cavity. Its typical clinical presentation is a unilat-eral nasal obstruction associated with an epistaxis and a presence of a polypoid, smooth, lobulated, and firm mass in the nasal fossa. It is diagnosed by anatomopathological ex-amination, and the treatment of choice is surgical with tumor resection, keeping a safety margin. CASE REPORT: The case reported is a female 49-year-old patient, diagnosed with a nasal pleomorphic adenoma that was surgically treated. CONCLUSION: The importance of the case reported lies in the rarity of the pleomorphic adenoma located in this area. Therefore, this is a differential diagnosis that must be remembered for nasal tumors.

Carcinoma Papilífero primário de ducto do cisto tireoglosso ­ relato de caso / Primary Papillary Carcinoma of the Thyroglossal Duct Cyst: Case Report

O cisto do ducto tiroglosso é uma anomalia congênita comum, decorrente da falha do desenvolvimento embriológico. Sempre que diagnosticado, é indicada a excisão cirúrgica do cisto, devido ao risco de infecção e malignidade, sendo mais comum o carcinoma papilífero da tireoide. Este trabalho relata o caso de uma paciente jovem que apresentou massa em região cervical anterior, cujo anatomopatológico confirmou o diagnóstico de carcinoma de cisto do ducto tireoglosso com tecido tireoidiano ectópico, sem evidência de carcinoma em glândula tireóide. Trabalho realizado através da revisão do prontuário, e em seguida, análise e discussão com base na literatura atual.Este artigo visou reforçar a importância de realizar um estudo anatomopatológico dos cistos do ducto tireoglosso e da diferenciação de carcinomas metastáticos e carcinomas primários.

Thyroglossal duct cyst is a common congenital anomaly, due to failure of embryological development. Whenever diagnosed, surgical excision of the cyst is indicated due to the risk of infection and malignancy, with papillary thyroid carcinoma being the most common. This paper reports the case of a young patient who presented mass in the anterior cervical region, whose anatomopathological confirmed the diagnosis of thyroglossal duct cyst carcinoma with ectopic thyroid tissue, without evidence of carcinoma in the thyroid gland. Work carried out by reviewing the medical chart, and then analysis and discussion based on current literature. This article aimed to reinforce the importance of conducting an anatomopathological study of the thyroglossal duct cysts and the differentiation of metastatic carcinomas and primary carcinomas.

Relato de Caso: paralisia unilateral de prega vocal por tuberculose mediastinal / Case report: unilateral vocal fold paralysis by mediastinal tuberculosis

Introdução: A tuberculose (TB) acomete especialmente os pulmões, no entanto, também se tem conhecimento das formas extrapulmonares. Dentre essas, buscamos relatar um caso raro de TB mediastinal localizada em trajeto de nervo laríngeo recorrente (NLR), a qual se manifestou com paralisia de prega vocal (PPV). Relato de Caso: Paciente masculino, 58 anos, apresentando quadro de disfonia. Histórico de exérese de testículo esquerdo e anatomopatológico evidenciando orquiepididimite crônica granulomatosa sugestiva de etiologia tuberculosa. Ex-tabagista e ex-etilista. Realizou, há 15 anos, um tratamento por 6 meses para TB pulmonar. Contactante de paciente bacilífero há três anos. A videolaringoscopia identificou PPV esquerda paramediana. A tomografia computadorizada (TC) de pescoço evidenciou linfonodos calcificados no mediastino superior, fossas supraclaviculares e espessamento de corda vocal à direita. A TC de Tórax apresentou conglomerados sequelares linfonodais calcificados no mediastino e sequela de processo granulomatoso crônico tipo TB em ápices pulmonares. Sorologia de HIV não reagente. Baciloscopia negativa, com amostra insuficiente. Cultura de escarro negativa. Discussão: A PPV esquerda encontrada na videolaringoscopia e TC de pescoço e os achados de TB mediastinal indicaram acometimento do NLR esquerdo pelo processo granulomatoso em seu trajeto, sendo esse, uma reativação de TB ganglionar mediastinal. Fora realizado esquema básico de tratamento para TB, com posterior resolução do quadro de disfonia. Embora a TB torácica seja uma condição comum, a rouquidão devido à PPV é uma complicação raramente associada. Conclusão: Salientamos a importância de estender a investigação ao mediastino na vigência de PPV unilateral, uma vez que a disfunção do NLR pode justificar o quadro.

Introduction: tuberculosis (TB) affects most commonly the lungs; nevertheless, extrapulmonary forms are also known. With that in mind, we intend to report a rare case of mediastinal TB located on the path of the recurrent laryngeal nerve (RLN), manifesting itself with vocal fold paralysis (VFP). Case report: male patient, 58 years old, presenting dysphonia. History of exeresis of the left testicle and anatomopathological showing chronic granulomatous orchiepididimitis, suggestive of tuberculous etiology. Former smoker, ex-alcoholic. Previous treatment for six months due to pulmonary TB, 15 years ago. Bacilli patient contactant for three years. Videolaryngoscopy identified paramedian left VFP. Computed tomography (CT) of the neck showed calcified lymph nodes in the upper mediastinum, supraclavicular fossa, and thickening on the right vocal cord. Chest CT showed calcified lymph node sequels in the mediastinal and Chronic Granulomatous TB-type sequel in pulmonary apices. Non-reactive HIV serology. Negative baciloscopy, insufficient sample. Negative sputum culture. Discussion: the finding of left VFP in videolaryngoscopy and neck CT, associated with the findings of mediastinal TB, indicated that the left RLN's involvement occurred due to the granulomatous process in its path, meaning a reactivation of mediastinal ganglionic TB. A simple treatment schedule for TB had been conducted, with subsequent resolution of the dysphonia. Even though thoracic TB is a common condition, hoarseness due to VFP is a rarely associated complication. Conclusion: we stress the importance of extending the investigation to the mediastinum in case of unilateral VFP since a dysfunction of the RLN is a possible justification of the case.

Swallowing in Patients with Mental Disability - Analysis of 189 Swallowing Video Endoscopies

Abstract Introduction Feeding, swallowing and breathing are fundamental activities for the survival and well-being of humans; these functions are performed by themost complex neuromuscular unit of the human body, which, when altered, may raise morbidity and mortality rates. Objective To evaluate deglutition in patients with mental disability in order to determine the incidence and the severity of dysphagia. Methods A total of 189 institutionalized adult patients with mental disability were analyzed using a 3.2 mm flexible fiberscope (Machida, Japan 1995). The following food consistencies were tested: pasty, thickened liquid and liquid. Results Among the total of 189 patients, 101 (53.4%) were female aged between 14 and 55 years old. Most of them 120 (63.5%) had profound mental deficiency, 58 (30.7%) had severe mental deficiency, 9 (4.8%) had moderate mental deficiency, and 2 (1.1%) had mild mental deficiency. Gender and the degree of mental deficiency did not influence significantly the degree of dysphagia. Age, degree of disability and interaction between age groups and degrees of disability influenced significantly the degree of dysphagia. Younger patients are more likely to present more severe dysphagia. Stabilization occurs between 31 and 40 years of age, and above this age, a greater chance of less severe dysphagia, because the increase in the degree of mental deficiency decreases the probability of more severe dysphagia. Conclusion The population that mostly presented severe dysphagia was characterized by being mostly female, with profound mental deficiency, with an average age of 36.7 years. There was no relationship between gender and the degree of mental disability concerning the degree of dysphagia. (AU)

Swallowing in Patients with Mental Disability - Analysis of 189 Swallowing Video Endoscopies.

Introduction Feeding, swallowing and breathing are fundamental activities for the survival and well-being of humans; these functions are performed by the most complex neuromuscular unit of the human body, which, when altered, may raise morbidity and mortality rates. Objective To evaluate deglutition in patients with mental disability in order to determine the incidence and the severity of dysphagia. Methods A total of 189 institutionalized adult patients with mental disability were analyzed using a 3.2 mm flexible fiberscope (Machida, Japan 1995). The following food consistencies were tested: pasty, thickened liquid and liquid. Results Among the total of 189 patients, 101 (53.4%) were female aged between 14 and 55 years old. Most of them 120 (63.5%) had profound mental deficiency, 58 (30.7%) had severe mental deficiency, 9 (4.8%) had moderate mental deficiency, and 2 (1.1%) had mild mental deficiency. Gender and the degree of mental deficiency did not influence significantly the degree of dysphagia. Age, degree of disability and interaction between age groups and degrees of disability influenced significantly the degree of dysphagia. Younger patients are more likely to present more severe dysphagia. Stabilization occurs between 31 and 40 years of age, and above this age, a greater chance of less severe dysphagia, because the increase in the degree of mental deficiency decreases the probability of more severe dysphagia. Conclusion The population that mostly presented severe dysphagia was characterized by being mostly female, with profound mental deficiency, with an average age of 36.7 years. There was no relationship between gender and the degree of mental disability concerning the degree of dysphagia.

Prevalência de apêndices préauriculares isolados em recémnascidos e resultados na triagem auditiva neonatal / Prevalence of isolated pre-auricular appendages in newborns and results in neonatal hearing screening

Introdução: os apêndices pré-auriculares, em conjunto com outras malformações craniofaciais e do osso temporal, estão associados à deficiência auditiva. Dentre as malformações do pavilhão auricular, encontram-se os apêndices pré-auriculares, formados por pele e cartilagem, e que podem estar presentes em qualquer ponto entre o trágus da orelha e o ângulo da boca, uni ou bilaterais. Objetivo: avaliar a resposta auditiva em 906 recém-nascidos sem indicadores de risco para deficiência auditiva e com apêndices pré-auriculares isolados (uni ou bilaterais) quanto a: prevalência de recém-nascidos com apêndices pré-auriculares; respostas de reflexo cócleo-palpebral; características das emissões otoacústicas; características do potencial evocado auditivo de tronco encefálico; e a incidência dessa causuística que apresente perda auditiva. Método: a identificação de indicadores de risco para deficiência auditiva foi realizada a partir da carteira do recém-nascido, do prontuário médico e de uma entrevista com os pais. Foram avaliados o meato acústico externo e a membrana timpânica através de otoscopia e espéculos auriculares. O reflexo cócleo-palpebral foi testado percutindo-se um agogô próximo ao recém-nascido. Pesquisa das emissões otoacústicas foi realizada com o aparelho ero scan etymotic research. Avaliou-se o potencial evocado auditivo do tronco encefálico. Resultado e discusssão: a prevalência de apêndices pré-auriculares foi de 1,1%. Todos apresentaram reflexo cócleo palpebral presente, passaram pelas EOA e o potencial evocado auditivo de tronco encefálico apresentou resposta eletrofisiológica dentro dos padrões de normalidade em todos os pacientes estudados. Conclusão: não houve correlação entre a perda auditiva e a presença de apêndices pré-auriculares

Introduction: pre-auricular appendages, together with other craniofacial malformations and temporal bone, are associated with hearing loss. Among the malformations of the auricle are the preauricular appendages, formed by skin and cartilage, and that can be present at any point between the tragus of the ear and the angle of the mouth, uni or bilateral. Objective: to evaluate the auditory response in 906 newborns without risk indicators for hearing loss and with isolated pre-auricular appendages (uni- or bilateral) for: prevalence of newborns with pre-auricular appendages; responses of cochlear-eyelid reflex; characteristics of otoacoustic emissions; characteristics of auditory brainstem evoked potential; and the incidence of this cause that presents hearing loss. Method: identification of risk indicators for hearing loss was carried out from the newborn's wallet, the medical record and the interview with the parents. The external acoustic meatus and the tympanic membrane were evaluated through otoscopy and atrial speculum. The cochlear-eyelid reflex was tested by percututing an agogot close to the newborn. Research on otoacoustic emissions was performed using the ero scan etymotic research apparatus. The auditory evoked potential of the brainstem was evaluated. Results and discussion: the prevalence of pre-auricular appendages was 1.1%. All of them presented a palpebral cochlear reflex present, passed through the OAE, and the auditory evoked potential of the brainstem presented an electrophysiological response within normality patterns in all patients studied. Conclusion: there was no correlation between hearing loss and the presence of pre-auricular appendages alone.

Distração osteogênica da sínfise mandibular como opção de tratamento da síndrome da apneia e hipopneia do sono em paciente com sequência de Pierre ­ Robin / Osteogenic distraction of the mandibular symphysis as an option for the treatment of sleep apnea and hypopnea syndrome in a patient with Pierre - Robin sequence

Introdução: Glossoptose e retrognatia, associadas a distúrbios respiratórios, compõem a Sequência de Robin (SR), que pode estar associada a uma variedade de síndromes genéticas. Sua incidência varia entre 1/5.000 e 1/50.000 nascidos vivos, cursando com níveis variáveis de comprometimento respiratório. A síndrome da apneia e hipopneia obstrutiva do sono (SAHOS) se destaca entre tais distúrbios, conferindo risco de morte neonatal e tempo prolongado de internação. Disfagia é sintoma frequente em pacientes com SR sindrômica, com risco de aspiração. Dentre as alternativas para tratamento do distúrbio respiratório, distração óssea mandibular (DOSM) é uma rápida e definitiva opção, podendo prevenir sequelas, como danos cerebrais por hipóxia, além de corrigir a micrognatia permanentemente. Objetivo: relatar padrão respiratório e da deglutição em paciente com SR após avanço mandibular por distração osteogênica Resultado e discussão: relatamos um caso de paciente com SPR associada à SAHOS grave: índice de distúrbio respiratório (IDR) =18/h, atraso do desenvolvimento neuro-psico-motor, respiração oral e disfagia de grau severo com dieta exclusiva por gastrostomia. Conclusão: após realização de DOSM, houve melhora da SAHOS e a dieta passou a ser ministrada via oral.

Introduction: glossoptosis and retrognatia, associated with respiratory disorders, compose the Robin Sequence (RS), which may be associated with a variety of genetic syndromes. Its incidence ranges from 1/5,000 to 1/50,000 live births with varying levels of respiratory compromise. The Obstructive Sleep Apnea and Hypopnea Syndrome (OSAHS) stands out among such disorders, conferring neonatal death risk and prolonged hospitalization time. Dysphagia is a frequent symptom in patients with syndromic SR, with risk of aspiration. Among the alternatives for the treatment of respiratory disorder, mandibular bone distraction (MBD) is a rapid and definitive option, which can prevent sequelae, such as brain damage through hypoxia, and correct micrognathia permanently. Objective: to report improvement of the respiratory and swallowing pattern in a case of PRS by osteogenic mandible distraction. Result and discussion: we report a case of a patient with SPR associated with severe OSAHS: respiratory distress index (IDR) = 18 / h, neuropsychological-motor development delay, oral breathing, and severe-grade dysphagia with an exclusive gastrostomy diet. Conclusion: after DOSM, there was improvement in OSAHS and the diet was administered orally.

Distúrbios da Comunicação em Pacientes Pediátricos ­ um Algoritmo da Avaliação Audiológica / Communication Disorders in Pediatric Patients - An Algorithm of Audiological Evaluation

Introdução: Foi instituído Teste de Triagem Auditiva Neonatal Universal (TANU). Crianças podem passar no teste e apresentar surdez tardia ou progressiva ou, ainda, serem portadoras de perdas leves e moderadas que não são observadas. Objetivo: Através deste relato de caso, discutir os exames auditivos pertinentes em cada situação e a orientação dos profissionais de saúde que primeiramente recebem estes pacientes. Descrição do Caso: O caso mostra a importância da avaliação da audição para auxílio no diagnóstico. Paciente foi encaminhado por quadro de atraso de linguagem e hipótese de perda auditiva. Apresentava dificuldades na interação social e alterações comportamentais. Avaliação audiológica foi normal, sendo feito diagnóstico de transtorno de espectro autista (TEA). Comentários: Pacientes com atraso e dificuldades na comunicação podem ser difíceis de avaliar, visto que muitos dos exames auditivos são subjetivos e dependem da interação do examinador com a criança. O caso relatado mostra uma das várias situações com que os profissionais podem se deparar e revela quais são os exames adequados para uma avaliação auditiva apropriada.

Introduction: Universal Newborn Hearing Screening (UNHS) Test was instituted to detect cases with higher probability of hearing loss. Children may pass the test and have late or progressive deafness or even mild and moderate losses that are not observed. Objective: To discuss, through this report of case, the pertinent auditory exams in each situation and the orientation of the health professionals who first receive these patients. Case Description: The case shows the importance of hearing evaluation for diagnostic assistance. Case 1 was referred for language delay and hypothesis of hearing loss. He presented difficulties in social interaction and behavioral changes. Audiological evaluation was normal, being diagnosed as Autistic Spectrum Disorder (ASD). Comments: Patients with delayed communication may be difficult to assess, since many of the auditory exams are subjective and depend on the interaction of the examiner with the child. The reported case presents one of the several situations that professionals may face and reveals what examinations are appropriate for an adequate auditory assessment.

Relato de caso: Microcarcinoma papilífero de tireoide com metástase para calota craniana / Case Report: Papillary thyroid microcarcinoma with metastasis to skull cap

Introdução: O câncer de tireoide é considerado a quarta neoplasia maligna mais frequente nas mulheres brasileiras. Sua incidência vem aumentando, principalmente pelo aumento dos diagnósticos de carcinomas papilíferos, que apresentam baixo índice de, porém podem ocasionar metástases linfonodal, pulmonar e óssea. Relato de caso: O caso relatado é de um paciente do sexo masculino, de 62 anos, que procurou o serviço devido a abaulamento em região parietal direita há cinco meses; com evidência de volumosa lesão expansiva heterogênea em calota craniana, exercendo efeito compressivo sobre o parênquima à Tomografia Computadorizada de Crânio. Após exérese, anatomopatológico mostrou neoplasia papiliforme com invasão óssea, com imunohistoquímica indicando carcinoma metastático de tireoide com padrão morfológico de carcinoma papilífero. À ultrassonografia de tireoide: nódulo sólido (0,9 x 0,9 x 0,8 cm) em lobo direito, Classe V- ATA (alto grau de suspeita de malignidade pela ultrassonografia). Após tireoidectomia, anatomopatológico evidenciou carcinoma papilífero de tireoide, variante folicular. Conclusão: A importância do caso relatado reside na apresentação rara de microcarcinoma papilífero de tireoide, em paciente do sexo masculino de faixa etária acima do esperado, com metástase, por via hematogênica, à distância para a calota craniana sem metástase linfonodal.

Introduction: Thyroid cancer is considered the fourth most frequent malignant neoplasm in Brazilian women, and its incidence has been increased mainly by an increase in the diagnosis of papillary carcinomas, which present a low mortality rate, but sometimes may result in lymph node, lung and bone metastasis. Case report: The case reported is a 62-year-old male patient, who sought the service due to bulging in the right parietal region for 5 months; with evidence of a large heterogeneous expansive lesion in a skull cap exerting a compressive effect on the parenchyma on Cranial Computed Tomography. After excision, anatomopathological examination showed papilliform neoplasm with bone invasion, with immunohistochemistry indicating metastatic thyroid carcinoma with morphological pattern of papillary carcinoma. Thyroid ultrasonography: solid nodule (0.9 x 0.9 x 0.8 cm) in the right lobe, Class V-ATA (high degree of suspicion of malignancy by ultrasonography). After thyroidectomy, anatomopathological evidence showed papillary thyroid carcinoma, variant follicular. Conclusion: The importance of the reported case lies in the rare presentation of papillary microcarcinoma of the thyroid, in a male patient older than expected, with hematogenous metastasis distal to the skull cap without lymph node metastasis.

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

Whole-exome sequencing of samples from affected members of two unrelated families with late-onset non-syndromic hearing loss revealed a novel mutation (c.2090 T > G; NM_017433) in MYO3A. The mutation was confirmed in 36 affected individuals, showing autosomal dominant inheritance. The mutation alters a single residue (L697W or p.Leu697Trp) in the motor domain of the stereocilia protein MYO3A, leading to a reduction in ATPase activity, motility, and an increase in actin affinity. MYO3A-L697W showed reduced filopodial actin protrusion initiation in COS7 cells, and a predominant tipward accumulation at filopodia and stereocilia when coexpressed with wild-type MYO3A and espin-1, an actin-regulatory MYO3A cargo. The combined higher actin affinity and duty ratio of the mutant myosin cause increased retention time at stereocilia tips, resulting in the displacement of the wild-type MYO3A protein, which may impact cargo transport, stereocilia length, and mechanotransduction. The dominant negative effect of the altered myosin function explains the dominant inheritance of deafness.

Relato de 3 Casos de Complicações de Otite Média Aguda / Report of 3 Cases of Complications of Acute Otitis Media

Antes da introdução dos antibióticos na prática clínica, a disseminação do processo infeccioso da orelha média para as estruturas adjacentes frequentemente resultava em complicações graves, que atualmente são mais comuns nos países em desenvolvimento, como o Brasil, do que nos países desenvolvidos, e mais prevalentes nas primeiras duas décadas de vida. Este trabalho relata três casos clínicos de complicações de otite média aguda atendidos no Hospital Universitário São Francisco de Assis no ano de 2015, através das revisões dos prontuários, que foram analisados e discutidos com base na literatura atual. As complicações de otites médias agudas podem ser graves e potencialmente fatais. (AU)

Prior to the introduction of antibiotics into clinical practice, dissemination of the infectious process from the middle ear to adjacent structures often resulted in severe complications, which are currently more common in developing countries, such as Brazil, than in developed countries, and more prevalent in the first two decades of life. This paper reports three clinical cases of acute otitis media complications treated at the São Francisco de Assis University Hospital in 2015, through medical records reviews, which were analyzed and discussed based on current literature. The complications of acute otitis media can be serious and potentially fatal. (AU)

Fístula Liquórica Esfenoidal Espontânea ­ relato de caso / Spontaneous sphenoidal liquor fistula - Case report

Introdução: fístula liquórica rinogênica é uma comunicação do espaço subaracnóideo com a fossa nasal ou seios paranasais, decorrentes a um defeito anatômico da dura-máter, osso e mucosa. As fístulas liquóricas nasais espontâneas são eventos raros, cerca de 3%, com possíveis complicações deletérias e uma causa definida. Relato de caso: o caso relatado é de paciente de 47 anos, com queixa de cefaleia de forte intensidade, diagnosticado com fístula liquórica esfenoidal espontânea. Conclusão: o otorrinolaringologista tem importante papel em realizar o diagnóstico e assistir o paciente com fístula liquórica rinogênica.

Introduction: rhinoid cerebrospinal fluid fistula is a communication of the subarachnoid space with the nasal fossa or paranasal sinuses, due to an anatomical defect of the dura mater, bone and mucosa. Spontaneous nasal fluid fistulas are rare events, about 3%, with possible deleterious complications and a definite cause. Case report: the case reported is a 47-year-old patient complaining of severe headache, diagnosed with spontaneous sphenoidal cerebrospinal fluid fistula. Conclusion: has an important role in the diagnosis and assistance of cases with rhinoid cerebrospinal fluid fistula.

Presença de cerume impactado em deficientes mentais: análise de 400 pacientes / Presence of cerumen impaction in inttellectually disabled persons: analysis of 400 cases

Introdução: Cerume impactado pode causar sintomas como zumbidos, tontura, plenitude auricular e hipoacusia. Estima-se que de 2% a 6% da população adulta apresente cerume impactado ou em excesso, sendo maior a incidência em pacientes com deficiência mental. Este estudo visa avaliar a incidência de cerume impactado em 400 indivíduos com deficiência mental. Métodos: estudo de coorte, longitudinal e prospectivo. Fizeram parte desse estudo 400 pacientes com idade entre 13 e 51 anos, com diagnóstico de deficiência mental, associada ou não à deficiência física; considerando sexo, idade, grau de deficiência mental, deficiência física, presença de cerume e associação com alterações do meato acústico externo como otite externa aguda. Resultados: a presença de cerume impactado em orelha esquerda foi encontrada em 33,0% da amostra e em 32,75% em orelha direita. Em 31% dos indivíduos encontrou-se deficiência física e a paralisia espástica foi a de maior incidência (15,5%). Em relação ao grau de deficiência mental, a grave foi a mais incidente (41,5%). Entre os 165 pacientes com cerume impactado na orelha direita, 25,5% tinha deficiência física e 7,5% com otite externa aguda; e entre os 161 pacientes com cerume impactado na orelha esquerda, 27,3% e otite externa aguda em 8,25%. Conclusão: os indivíduos com deficiência mental possuem uma incidência de cerume impactado significativamente maior. Em ambas as orelhas, notou-se que quanto maior o grau de deficiência mental, maior a chance de cerume impactado e otite externa aguda.

Introduction: cerumen impaction can cause symptoms such as tinnitus, dizziness, ear fullness and hearing loss. It is estimated that from 2% to 6% of the adult population has impacted or excess cerumen, with a higher incidence in patients with mental deficiency. Objective: this study aims to evaluate the incidence of impaction cerumen in 400 individuals with mental disabilities. Methods: longitudinal and prospective cohort study. This study included 400 patients aged 13 to 51 years, with a diagnosis of mental disability, associated or not with physical disability; considering gender, age, degree of mental deficiency, physical disability, presence of earwax and association with external auditory canal alterations such as acute external otitis. Results: the presence of impacted earwax in the left ear was found in 33.0% of the sample and in 32.75% in the right ear. In 31% of the individuals found physical disability, spastic paralysis was the one with the highest incidence (15.5%). In relation to the degree of mental deficiency, the severe one was the most incident (41.5%). Among the 165 patients with impacted earwax in the right ear, 25.5% had physical disability and 7.5% had acute external otitis; and among the 161 patients with impacted earwax in the left ear, 27.3% and acute external otitis in 8.25%. Conclusion: mentally handicapped individuals have a significantly higher impact incidence of cerumen than the population. In both ears, it was noted that the higher the degree of mental deficiency, the greater the chance of impacted earwax and acute external otitis.

Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance.

We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight individuals among the A1555G carriers were affected by hearing impairment and one person had normal hearing thresholds till the end of the present study. The audiologic evaluation results indicated normal hearing thresholds all the way to bilateral profound hearing loss with post-lingual onset and variable configuration. Two affected siblings presented progressive hearing loss. It was impossible to precise the time of hearing loss onset; however, the impairment was present in both children and adults. The genetic study revealed the A1555G mitochondrial mutation in the 12SrRNA gene. Given the prevalence of mitochondrial mutations as a cause of hearing loss, it is fundamental to perform the etiopathologic diagnosis in order to postpone the onset or avoid hearing impairment progression. This kind of hearing impairment represents a challenge to the professionals since there are no physical traits that indicate genetic transmission.

Estudo de família brasileira portadora de deficiência auditiva sensorioneural não-sindrômica com herança mitocondrial / Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance

O presente estudo teve como objetivo descrever os achados audiológicos e genéticos de nove membros de uma família brasileira que apresenta a mutação no DNA mitocondrial. Todos os nove membros realizaram estudo genético, avaliação foniátrica e audiológica (audiometria tonal e logoaudiometria). O estudo genético revelou a presença de mutação mitocondrial A1555G no gene 12S rRNA (MT-RNR-1) do DNA mitocondrial em todos os sujeitos. Oito sujeitos apresentaram deficiência auditiva e somente um apresentou limiares auditivos normais até o término da realização do estudo. Os resultados audiológicos apontaram para perdas auditivas bilaterais, com prevalência das simétricas, de configurações e graus variados (de moderado a profundo) e pós-linguais. Progressão da perda auditiva foi observada em dois irmãos afetados. Não foi possível afirmar a época do início da perda auditiva por falta de informação dos sujeitos, no entanto, observou-se manifestação da perda em crianças e adultos. As mutações no DNA mitocondrial representam uma causa importante de perda auditiva, sendo imprescindível a realização do diagnóstico etiopatológico, a fim de retardar o início ou evitar a progressão da surdez.

We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight individuals among the A1555G carriers were affected by hearing impairment and one person had normal hearing thresholds till the end of the present study. The audiologic evaluation results indicated normal hearing thresholds all the way to bilateral profound hearing loss with post-lingual onset and variable configuration. Two affected siblings presented progressive hearing loss. It was impossible to precise the time of hearing loss onset; however, the impairment was present in both children and adults. The genetic study revealed the A1555G mitochondrial mutation in the 12SrRNA gene. Given the prevalence of mitochondrial mutations as a cause of hearing loss, it is fundamental to perform the etiopathologic diagnosis in order to postpone the onset or avoid hearing impairment progression. This kind of hearing impairment represents a challenge to the professionals since there are no physical traits that indicate genetic transmission.