F-waves persistence in peripheral sensory syndromes / Persistência das ondas-F nas síndromes sensitivas periféricas

Abstract Background The distinction between sensory neuronopathies (SN), which is by definition purely sensory, and sensory polyneuropathies (SP) and sensory multineuropathies (SM) is important for etiologic investigation and prognosis estimation. However, this task is often challenging in clinical practice. We hypothesize that F-wave assessment might be helpful, since it is able to detect subtle signs of motor involvement, which are found in SP and SM, but not in SN. Objective The aim of the present study was to determine whether F-waves are useful to distinguish SN from SP and SM. Methods We selected 21 patients with SP (12 diabetes mellitus, 4 transthyretin familial amyloid polyneuropathy, 4 others), 22 with SM (22 leprosy), and 26 with SN (13 immune-mediated, 10 idiopathic, 3 others) according to clinical-electrophysiological-etiological criteria. For every subject, we collected data on height and performed 20 supramaximal distal stimuli in median, ulnar, peroneal, and tibial nerves, bilaterally, to record F-waves. Latencies (minimum and mean) and persistences were compared across groups using the Kruskal-Wallis and Bonferroni tests. P-values < 0.05 were considered significant. Results All groups were age, gender, and height-matched. Overall, there were no significant between-group differences regarding F-wave latencies. In contrast, F-wave persistence was able to stratify the groups. Peroneal F-wave persistence was higher, bilaterally, in the SN group compared to SM and SP (p < 0.05). In addition, F-waves persistence of the ulnar and tibial nerves was also helpful to separate SN from SP (p < 0.05). Conclusion F-wave persistence of the peroneal nerves might be an additional and useful diagnostic tool to differentiate peripheral sensory syndromes.

Resumo Antecedentes A distinção entre neuronopatias sensitivas (SN) e polineuropatias sensitivas (SP) e multineuropatias sensitivas (SM) é importante para a investigação etiológica e para o prognóstico. Contudo, esta tarefa é desafiadora na prática clínica. Hipotetizou-se que a avaliação das ondas-F pode ser útil, por ser capaz de detectar envolvimento motor nas SP e SM, mas não nas SN. Objetivo Determinar se as ondas-F podem ajudar a distinguir entre SN, SP e SM. Métodos Selecionou-se 21 pacientes com SP (12 diabetes mellitus, 4 ATTR-FAP e 4 com outras neuropatias), 22 com SM (22 hanseníases) e 26 com SN (13 imunomediadas, 10 idiopáticas e 3 com outras neuronopatias), de acordo com critérios clínicos, etiológicos e eletrofisiológicos. Para cada indivíduo, foi aferida a altura e foram aplicados 20 estímulos distais supramáximos nos nervos mediano, ulnar, fibular e tibial, bilateralmente, para registrar as ondas-F. Uma comparação foi feita, por grupo, das latências (mínimas e médias) e persistências pelos testes Kruskal-Wallis e Bonferroni. Valores de p < 0.05 foram considerados estatisticamente significativos. Resultados Todos os grupos foram pareados por idade, sexo e altura. Não houve diferença estatística significativa entre os grupos quanto às latências das ondas-F. A persistência da onda-F foi capaz de estratificar os grupos, sendo as dos nervos fibulares bilateralmente maiores no grupo SN que nos grupos SM e SP (p < 0.05). Adicionalmente, a persistência das ondas-F dos nervos ulnares e tibiais também foi útil para distinguir SN de SP (p < 0.05). Conclusão A persistência das ondas-F dos nervos fibulares pode ser uma ferramenta adicional e útil para diferenciar síndromes sensitivas periféricas.

Cistitis eosinofílica en mujer con enfermedad renal crónica

Se presenta caso de una mujer de 70 años, con antecedentes de enfermedad renal crónica sin requerimiento dialítico que ingresa con descompensación aguda y que mejora con sesiones de hemodiálisis. Al examen físico llama la atención hematuria franca por lo que se solicita ecografía de pelvis donde aprecia vejiga distendida con coágulo en su interior de 7,2 cm. La tomografía muestra aparente tumor de pared de vejiga. La uretrocistografía confirma una cistitis crónica eosinofílica. Es manejada con hidroxicina teniendo respuesta favorable cediendo episodios de hematuria. La cistitis eosinofílica es una condición médica rara que se presenta con síntomas urinarios tales como disuria y hematuria. Es más común en niños que en adultos. El método diagnóstico es a través de una biopsia de pared vesical por cistoscopía. El manejo está dirigido a aliviar los síntomas. El interés por el caso se debe a la rareza de esta patología.

We present the case of a 70-year-old woman with a history of chronic kidney disease without dialysis who was admitted with acute decompensation and improved with hemodialysis sessions. On physical examination, frank hematuria was noticeable, therefore a pelvic ultrasound was requested, where a distended bladder with a 7.2 cm clot inside was observed. The tomography showed an apparent bladder wall tumor. Cyst urethrography confirmed chronic eosinophilic cystitis. It was managed with hydroxyzine, having a favorable response, reducing episodes of hematuria. Eosinophilic cystitis is a rare medical condition that presents with urinary symptoms such as dysuria and hematuria. It is more common in children than in adults. The diagnostic method is through a bladder wall biopsy by cystoscopy. Management is aimed at relieving symptoms. The interest in the case is due to the rarity of this pathology.

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition / Consenso brasileiro para o diagnóstico, manejo e tratamento da polineuropatia amiloidótica familiar associada à transtirretina: segunda edição

Abstract Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene. Hereditary transthyretin amyloidosis with peripheral neuropathy is a disabling, progressive and life-threatening genetic condition that leads to death in ~ 10 years if untreated. The prospects for ATTRv-PN have changed in the last decades, as it has become a treatable neuropathy. In addition to liver transplantation, initiated in 1990, there are now at least 3 drugs approved in many countries, including Brazil, and many more are being developed. The first Brazilian consensus on ATTRv-PN was held in the city of Fortaleza, Brazil, in June 2017. Given the new advances in the area over the last 5 years, the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology organized a second edition of the consensus. Each panelist was responsible for reviewing the literature and updating a section of the previous paper. Thereafter, the 18 panelists got together virtually after careful review of the draft, discussed each section of the text, and reached a consensus for the final version of the manuscript.

Resumo Polineuropatia amiloidótica familiar associada a transtirretina (ATTRv-PN) é uma polineuropatia sensitivo-motora e autonômica hereditária autossômica dominante com mais de 130 variantes patogênicas já identificadas no gene TTR. A ATTRv-PN é uma condição genética debilitante, progressiva e que ameaça a vida, levando à morte em ~ 10 anos se não for tratada. Nas últimas décadas, a ATTRv-PN se tornou uma neuropatia tratável. Além do transplante de fígado, iniciado em 1990, temos agora 3 medicamentos modificadores de doença aprovados em muitos países, incluindo o Brasil, e muitas outras medicações estão em desenvolvimento. O primeiro consenso brasileiro em ATTRv-PN foi realizado em Fortaleza em junho de 2017. Devido aos novos avanços nesta área nos últimos 5 anos, o Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia organizou uma segunda edição do consenso. Cada panelista ficou responsável por rever a literatura e atualizar uma parte do manuscrito. Finalmente, os 18 panelistas se reuniram virtualmente após revisão da primeira versão, discutiram cada parte do artigo e chegaram a um consenso sobre a versão final do manuscrito.

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy / Atualização das recomendações do consenso brasileiro para distrofia muscular de Duchenne

Abstract In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.

Resumo Nas últimas décadas, houve progressos significativos no diagnóstico e no tratamento da distrofia muscular de Duchenne (DMD), considerada a distrofia muscular mais comum na infância. Diretrizes internacionais foram publicadas e revisadas recentemente. Um grupo de especialistas brasileiros desenvolveu um padrão de atendimento baseado em revisão de literatura, com recomendações graduadas pautadas em evidências compiladas em uma publicação dividida em duas partes. A implementação de melhores práticas de manejo ajudou a modificar a história natural desta doença crônica, progressiva, que, no passado, oferecia uma expectativa de vida muito limitada para crianças do sexo masculino. Desde a publicação desse consenso anterior, o diagnóstico, o tratamento com esteroides, a reabilitação e os cuidados sistêmicos ganharam novas possibilidades a partir da divulgação dos resultados de trabalhos originais em algumas dessas áreas. Além disso, as pesquisas e o desenvolvimento de novos fármacos estão em andamento, e algumas intervenções já foram aprovadas para uso em determinados países. Nesse contexto, identificamos a necessidade de rever as recomendações anteriores sobre o manejo dos pacientes brasileiros com DMD. Nosso objetivo principal foi elaborar uma atualização baseada em evidências sobre esses tópicos do consenso.

Hallazgos electroencefalográficos compatibles con encefalopatía en pacientes ingresados por covid-19 / Electroencephalographic findings compatible with encephalopathy in patients admitted for COVID-19

RESUMEN INTRODUCCIÓN: La covid-19 afecta principalmente al aparato respiratorio, sin embargo, también se ha descrito afectación tanto directa como indirecta en el sistema nervioso central y periférico, lo cual ocasiona una gran variedad de manifestaciones neurológicas, siendo la encefalopatía una de las más frecuentemente observadas. OBJETIVO: Se busca mostrar la utilidad del video-electroencefalograma (vEEG) en el diagnóstico de encefalopatía en pacientes ingresados por covid-19, así como su valor para determinar el pronóstico de estos pacientes. MÉTODOS: Estudio observacional retrospectivo con 76 vEEG de 41 pacientes con covid-19 confirmada. Los estudios se han realizado entre los meses de marzo del 2020 y junio del 2021. Se estudió la gravedad de la enfermedad, así como sus características clínicas y neurológicas, el tratamiento farmacológico y los hallazgos electroencefalográficos según el grado de disfunción de la encefalopatía que desarrollaron estos pacientes. RESULTADOS: De los 41 pacientes, 12 (29 %) presentaron signos electroencefalográficos de disfunción cerebral leve, 15 (37 %) disfunción cerebral moderada y 14 (34 %) disfunción cerebral severa, los cuales se asociaron con una mayor mortalidad. CONCLUSIONES: En los 76 vEEG realizados a los 41 pacientes ingresados con encefalopatías asociadas con infección por covid-19, no se observó un patrón distinto a los descritos en encefalopatías de otras etiologías. El vEEG fue útil para confirmar la sospecha clínica de una disfunción cerebral en pacientes con encefalopatías asociadas con infección por covid-19 y para asignarle un grado de severidad, confirmando su beneficio como biomarcador diagnóstico y pronóstico.

ABSTRACT INTRODUCTION: COVID-19 mainly affects the respiratory system; however, both direct and indirect involvement of the central and peripheral nervous system has also been described, causing a wide variety of neurological manifestations, with encephalopathy being one of the most frequently observed neurological manifestations. OBJECTIVE: With this article we intend to show the usefulness of vEEG in the diagnosis of encephalopathy in patients referred for COVID-19 who develop this neurological complication, as well as its value in determining the prognosis of these patients. METHODS: Retrospective observational study with 76 video-electroencephalograms of 41 patients with confirmed COVID-19 infection. The studies were performed during the months of March 2020 through June 2021. Disease severity, clinical and neurological features, pharmacological treatment and electroencephalographic indings were studied according to the degree of encephalopathy dysfunction these patients developed. RESULTS: Of the 41 patients, 12 (29 %) presented electroencephalographic signs of mild cerebral dysfunction, 15 (37 %) moderate cerebral dysfunction, and 14 (34 %) severe cerebral dysfunction, which were associated with higher mortality. CONCLUSIONS: In the 76 vEEG performed in the 41 patients admitted with encephalopathies associated with COVID-19 infection, no pattern different from that described in encephalopathies of other etiologies was observed. The vEEG was useful to confirm the clinical suspicion of brain dysfunction in patients with encephalopathies associated with COVID-19 infection and to assign a degree of severity, confirming its benefit as a diagnostic and prognostic biomarker.

Absceso mastoideo como presentación de colesteatoma congénito en preescolar ¿cuál es el origen? / Mastoid abscess as congenital cholesteatoma presentation in a child what is the origin?

Resumen El colesteatoma congénito es una entidad que puede manifestarse con una amplia variedad de síntomas o ser silente durante largo tiempo y constituir un hallazgo incidental. Una vez diagnosticada es importante valorar su extensión y el compromiso de estructuras adyacentes, para lograr una adecuada planificación quirúrgica, eliminando la enfermedad y manteniendo la mejor funcionalidad posible. Se presenta un caso de colesteatoma congénito infantil.

Abstract Congenital cholesteatoma is an entity that can manifest with a wide variety of symptoms or be silent for a long time and constitute an incidental finding. Once diagnosed, it is important to assess the extension to apply the most efficient treatment, eliminating the disease and providing functionality if possible. A case of congenital cholesteatoma in a child is presented.

La investigación científica: un reto en electromedicina

RESUMEN En Cuba se fomenta el desarrollo de investigaciones en el campo de las ciencias médicas, con el fin de introducir sus resultados a favor del progreso económico y social. El objetivo de este trabajo fue reflexionar sobre el papel de la ciencia en la gestión de equipos médicos, su aplicación en los departamentos de electromedicina de las instituciones sanitarias, y su impacto social. Todo ello a partir de la presentación de los aspectos teóricos fundamentales de las relaciones entre ciencia, gestión de equipos médicos y función social de la electromedicina, a partir de su situación actual. La investigación científica en electromedicina, permitiría formular nuevas teorías o modificar las existentes e incrementar los conocimientos, lo que posibilitaría el enriquecimiento de las ciencias médicas. Resulta necesaria como proceso, a fin de obtener información relevante para la verificación, corrección y aplicación del conocimiento, en aras de solucionar los problemas de las tecnologías sanitarias y su impacto socioeconómico.

ABSTRACT In Cuba, the development of research in the field of the medical sciences is promoted in order to introduce its results to favor the social and economic progress. The aim of this work was to reflect on the role of science in the management of medical devices, its application in the electromedicine departments of health facilities, and its social impact, all this from the presentation of the main theoretical aspects of the relations between science, medical devices management and electromedicine social function in its current situation. Scientific research in electromedicine would allow to formulate new theories or to modify the existent ones and to increase knowledge, what would make possible the enrichment of the medical sciences. As a process, scientific research is necessary in order to obtain relevant information for the validation, correction and application of the knowledge, for the sake of solving the problems of health technologies and its socioeconomic impact.

Unusual radiological finding in foreign bodies ingestion: three esophageal coins / Hallazgo radiológico inusual en ingesta de cuerpos extraños: tres monedas esofágicas

Abstract Case description: A 5-year-old girl presented to the emergency department with a history of foreign body ingestion. A cervico-thoracoabdominal radiograph demonstrate a foreign body in the esophagus, which seemed to show a double rim sign suspecting a button battery. After an emetic episode and expelling a coin, the child became asymptomatic. Close inspection of the X-ray demonstrated that the image was formed by superimposition of 3 circumferential objects of different sizes. Another X-ray observed the persistence of two superimposed objects. Clinical findings: The girl presented with sialorrhea, odynophagia, and nausea. Vital signs and physical examination were normal. There was no significant medical history. Treatment and Outcome: With the suspicion of multiple impacted esophageal objects, the patient was then taken to the operating room. During the flexible esophagoscopy 2 coins were found in the esophagus, both were removed without difficulty. The patient had an uneventful postoperative recovery and there have been no long-term complications. Clinical relevance: Unusual radiographic findings regarding esophageal foreign bodies have been reported, however, we describe the first case of a child with 3 coins impacted in the esophagus and a new radiological finding in foreign bodies ingestions that allow to avoid misdiagnosis and improve outcomes.

Resumen Descripción del caso: Una niña de 5 años es llevada a urgencias tras la ingesta de un cuerpo extraño. La radiografía cérvico-toraco-abdominal evidenció un cuerpo extraño esofágico con signo de doble halo, lo que hizo sospechar una pila de botón. Tras un vómito con expulsión de una moneda los síntomas desaparecieron. Una inspección minuciosa de la radiografía demostró que la imagen estaba formada por la superposición de 3 objetos circunferenciales de diferentes tamaños. Una nueva radiografía mostró persistencia de dos objetos superpuestos. Hallazgos clínicos: La niña refería odinofagia, náuseas y tenía sialorrea. Los signos vitales y el examen físico eran normales. No tenía antecedentes médicos relevantes. Tratamiento y desenlace: Con la sospecha de impactación esofágica múltiple, la paciente fue llevada al quirófano. Durante la esofagoscopia se encontraron 2 monedas en el esófago que fueron extraídas sin dificultad. La evolución postoperatoria fue favorable y no hubo complicaciones a largo plazo. Relevancia clínica: Aunque se han reportado hallazgos radiográficos inusuales en cuerpos extraños esofágicos, describimos el primer caso de un niño con 3 monedas impactadas en el esófago y un nuevo hallazgo radiológico en la ingesta de cuerpos extraños que permite evitar diagnósticos erróneos y mejorar los desenlaces.

Cannabinoids in Neurology - Position paper from Scientific Departments from Brazilian Academy of Neurology / Canabinoides em Neurologia - Artigo de posicionamento dos Departamentos Científicos da Academia Brasileira de Neurologia

ABSTRACT Cannabinoids comprehend endocannabinoids, phytocannabinoids, and synthetic cannabinoids, with actions both in the central and peripherical nervous systems. A considerable amount of publications have been made in recent years, although cannabis has been known for over a thousand years. Scientific Departments from the Brazilian Academy of Neurology described evidence for medical use in their areas. Literature is constantly changing, and possible new evidence can emerge in the next days or months. Prescription of these substances must be discussed with patients and their families, with knowledge about adverse events and their efficacy.

RESUMO Os canabinoides compreendem os endocanabinoides, fitocanabinoides e os canabinoides sintéticos e desempenham ações no sistema nervoso central e periférico. Uma quantidade enorme de publicações tem sido lançada nos últimos anos, embora a cannabis seja conhecida por milênios. Os Departamentos Científicos da Academia Brasileira de Neurologia descreveram as evidências do uso médico em suas áreas. A literatura está em constantes mudanças e possíveis novas evidências podem surgir nos próximos dias ou meses. A prescrição dessas substâncias deve ser discutida com os pacientes e suas famílias, com conhecimento sobre eventos adversos e sua eficácia.

La mediación tecnológica en la extensión universitaria para la promoción de salud / The technological mediation in the university extension for health promotion

La extensión universitaria, como uno de los procesos formativos de las universidades tiene gran relevancia, razón por la cual en el presente artículo se hace una valoración crítica sobre esta y su manifestación en las universidades cubanas, particularmente con el uso de las tecnologías de la información y las comunicaciones para la promoción de salud. Se concluye que el uso de dichas tecnologías es imprescindible para favorecer el perfeccionamiento de este proceso y, específicamente en la salud, contribuyen a garantizar un diagnóstico certero.

The university extension, as one of the training processes of the universities has great relevance, reason why a critical valuation about it and its manifestation in the Cuban universities is made in this work, particularly with the use of the information and communications technologies for health promotion. It is concluded that the use of these technologies is indispensable to favor the improvement of this process and, specifically in health, they contribute to guarantee a good diagnosis.

Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies / Erro e atraso diagnóstico nas neuronopatias sensitivas não paraneoplásicas

ABSTRACT Sensory neuronopathies (SN) are a group of peripheral nerve disorders characterized by multifocal non-length-dependent sensory deficits and sensory ataxia. Its recognition is essential not only for proper management but also to guide the etiological investigation. The uncommon SN clinical picture and its rarity set the conditions for the misdiagnosis and the diagnostic delay, especially in non-paraneoplastic SN. Therefore, our objectives were to characterize the diagnostic odyssey for non-paraneoplastic SN patients, as well as to identify possible associated factors. Methods We consecutively enrolled 48 non-paraneoplastic SN patients followed in a tertiary neuromuscular clinic at the University of Campinas (Brazil). All patients were instructed to retrieve their previous medical records, and we collected the data regarding demographics, disease onset, previous incorrect diagnoses made and the recommended treatments. Results There were 34 women, with a mean age at the diagnosis of 45.9 ± 12.2 years, and 28/48 (58%) of the patients were idiopathic. Negative sensory symptoms were the heralding symptoms in 25/48 (52%); these were asymmetric in 36/48 (75%) and followed a chronic course in 35/48 (73%). On average, it took 5.4 ± 5.3 years for SN to be diagnosed; patients had an average of 3.4 ± 1.5 incorrect diagnoses. A disease onset before the age of 40 was associated to shorter diagnosis delay (3.7 ± 3.4 vs. 7.8 ± 6.7 years, p = 0.01). Conclusions These results suggest that diagnostic delay and misdiagnosis are frequent in non-paraneoplastic SN patients. As in other rare conditions, increased awareness in all the healthcare system levels is paramount to ensure accurate diagnosis and to improve care of these patients.

RESUMO As neuronopatias sensitivas (NS) representam um grupo de doenças caracterizadas por ataxia sensitiva e déficits sensitivos multifocais e não-comprimento dependentes. O seu reconhecimento é fundamental para o tratamento apropriado e para a investigação de doenças associadas. O quadro clínico pouco frequente aliado à baixa prevalência, especialmente das formas não-paraneoplásicas (NSnp), colaboram para o atraso e erro no diagnóstico. Os objetivos desse trabalho são descrever a odisseia diagnóstica dos pacientes com NSnp e tentar identificar possíveis fatores associados. Métodos Foram incluídos consecutivamente 48 pacientes com NSnp acompanhados no ambulatório de doenças neuromusculares da Universidade Estadual de Campinas (Brasil). Dados demográficos e sobre o início da NS (incluindo diagnósticos que lhes foram dados e tratamentos prescritos) foram coletados. Resultados Na coorte descrita havia 34 mulheres e a idade ao diagnóstico era de 45,9 ± 12,2 anos. Os sintomas inaugurais eram sensitivos deficitários em 25/48 (52%) dos pacientes, sendo assimétricos em 36/48 (75%) e de evolução crônica em 35/48 (73%). Para 28/48 (58%) dos pacientes a NS era idiopática. Em média, os pacientes com NSnp tiveram um atraso diagnóstico de 5,4 ± 5,3 anos com uma média de 3,4 ± 1,5 diagnósticos incorretos. Pacientes com início antes dos 40 anos tiveram diagnóstico mais precoce que aqueles com início tardio (3,7 ± 3,4 vs. 7,8 ± 6,7 anos, p = 0,01). Conclusão Os dados ora apresentados sugerem que o erro e o atraso diagnóstico são frequentes e impactam os pacientes com NS. A importância do diagnóstico das NS deve ser constante em todos os níveis do sistema de saúde para o diagnóstico correto e a consequente melhora no cuidado a esses pacientes.

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1 / Vinte e cinco anos desde a identificação do primeiro gene das SCAs: história, aspectos clínicos e perspectivas para a SCA1

ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1.

RESUMO As ataxias espinocerebelares (SCA) são um grupo clínico e geneticamente heterogêneo de doenças monogênicas que compartilham ataxia e herança autossômica dominante como características principais. Uma proporção importante de SCAs é causada por expansões de repetição de trinucleotídeos CAG na região de codificação de diferentes genes. Além da heterogeneidade genética, os aspectos clínicos transcendem os sintomas motores, incluindo aspectos cognitivos, eletrofisiológicos e de imagem. Apesar de todo o progresso feito nos últimos 25 anos, os mecanismos que determinam como se dá a morte neuronal mediada por essas expansões instáveis ainda não estão claros. O objetivo deste artigo é revisar, de um ponto de vista histórico, a primeira ataxia geneticamente relacionada com o CAG descrita: SCA 1.

Plataforma interactiva para la integración en el proceso de extensión universitaria / Interactive platform for the integration in the university extension environment

En este artículo se determinan las posibilidades que ofrecen las plataformas interactivas para la gestión del proceso de integración de la labor extensionista. Para ello se parte de la definición de plataformas interactivas y de sus características más relevantes, así como de los tipos fundamentales de sistemas de gestión de aprendizaje, de acuerdo con el licenciamiento de código abierto y código cerrado; luego se aborda su uso en el contexto universitario. Finalmente se analiza el sistema de gestión de aprendizaje ante las tecnologías de la información y las comunicaciones y cómo pudiera favorecerse este sistema con una plataforma interactiva desde las potencialidades de dichas tecnologías en el aprendizaje universitario

In this work the possibilities that offer the interactive platforms for the administration of the extensionist work integration are determined. For this, the definition of interactive platforms and their most outstanding characteristics are defined, as well as the fundamental types of systems of learning administration, according to the open and closed codes license; then their use is approached in the university context. Finally, the system of learning administration is analyzed when dealing with the information and communications technologies, as well as how this system could be favored with an interactive platform, from the potentialities of these technologies in the university learning

Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations / Toxina botulínica nas paraplegias espásticas hereditárias: efeitos nas manifestações motoras e não-motoras

ABSTRACT Motor and non-motor manifestations are common and disabling features of hereditary spastic paraplegia (HSP). Botulinum toxin type A (Btx-A) is considered effective for spasticity and may improve gait in these patients. Little is known about the effects of Btx-A on non-motor symptoms in HSP patients. Objective To assess the efficacy of Btx-A on motor and non-motor manifestations in HSP patients. Methods Thirty-three adult patients with a clinical and molecular diagnosis of HSP were evaluated before and after Btx-A injections. Results Mean age was 41.7 ± 13.6 years and there were 18 women. Most patients had a pure phenotype and SPG4 was the most frequent genotype. The Btx-A injections resulted in a decrease in spasticity at the adductor muscles, and no other motor measure was significantly modified. In contrast, fatigue scores were significantly reduced after Btx-A injections. Conclusion Btx-A injections resulted in no significant functional motor improvement for HSP, but fatigue improved after treatment.

RESUMO Manifestações motoras e não motoras são comuns e incapacitantes nas paraparesias espásticas hereditárias (PEH). Toxina botulínica do tipo A (TB-A) é considerada eficaz no tratamento da espasticidade e pode melhorar a marcha nesses pacientes. Pouco se sabe sobre os efeitos da TB-A sobre sintomas não-motores. Objetivo avaliar a eficácia da TB-A sobre manifestações motoras e não-motoras nas PEH. Método trinta e três pacientes adultos com PEH foram avaliados antes e depois das aplicações de TB-A. Resultados A média de idade foi 41,7 ± 13,6 anos e havia 18 mulheres. A maioria dos pacientes portava a forma pura e o genótipo mais comum foi SPG4. Houve diminuição da espasticidade dos músculos adutores da coxa sem melhora da marcha. A pontuação da fadiga reduziu após as injeções. Conclusão As aplicações de TB-A não melhoraram a marcha nos pacientes mas a redução da fadiga foi significativa após o tratamento.

Síndrome de Morquio, enfermedad de interés para la odontopediatría: presentación de un caso / Morquio syndrome, a disease of interest for pediatric dentistry: case report

El Síndrome de Morquio es un trastorno de almacenamiento de mucopolisacáridos se caracteriza principalmente por estatura corta y afectación ósea grave, pero el coeficiente intelectual es normal. La prevalencia es rara se estima que afecta a uno de cada 200.000 nacimientos hombres y mujeres por igual. La MPS IV A y B son enfermedades autosómicas recesivas con esto queremos decir que ambos progenitores son portadores del mismo gen afectado el cual se encuentra alterado produciendo así una deficiencia en la producción de la enzima. Las manifestaciones esqueléticas en esta displasia son retardo en el crecimiento, hipoplasia del odontoides, cifosis toracolumbar, displasia de cadera, genu valgo, manchas cutáneas y laxitud articular, en cuando a cuestiones dentales tenemos: el esmalte es delgado, rugoso e hipoplásico afectando dientes deciduos como permanentes. Se presenta el caso de un paciente masculino de 8 años 3/12 presentando MPS el cual requiere un protocolo de rehabilitación lo cual se realiza en el área de odontopedriatría del Hospital del Niño DIF.

Morquio syndrome is a mucopolysaccharide storage disorder is mainly characterized by short stature, severe bone involvement, but IQ is normal. The prevalence is rare is estimated to affect one in every 200,000 births men and women alike. The MPS IV A and B are autosomal recessive diseases with this we mean that both parents are carriers of the same gene affected which is altered thus producing a deficiency in the production of the enzyme. The skeletal manifestations in this dysplasia are growth retardation, hypoplasia of the odontoid, thoracolumbar kyphosis, hip dysplasia, genu valgus, skin blemishes and joint laxity, then dental issues are: the enamel is thin rugged and hypoplastic affecting deciduous theeth as permanent. The case of a male patient presenting eight years 3/12 MPS which requires a rehabilitation protocol which is done in the dental area of Hospital del Niño DIF is presented.

Hereditary spastic paraplegia from 1880 to 2017: an historical review / Paraplegia espástica hereditária de 1880 a 2017: uma revisão histórica

ABSTRACT The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the first clinical descriptions by Adolf von Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.

RESUMO Os autores constroem uma breve linha do tempo com as principais pesquisas clinicas relacionadas as paraplegias espásticas hereditárias. Desde a descrição clínica inicial em 1880, feita por Adolf von Strümpell, até os dias atuais com a transformação dessas doenças em um grupo de doenças neurogenéticas com grande variabilidade na apresentação fenotípica e genotípica.

Sindrome de Atra / Atra syndrome

La leucemia promielocítica aguda (APL) es el subtipo de leucemia mieloide aguda de mejor pronóstico en niños. Su incidencia es menor a 10%. Desde el punto de vista citogenético se observa una translocación t (15;17). En la terapéutica la incorporación del ácido transretinoico ha logrado altas tasas de remisión completa debido a la rápida desaparición de la coagulopatía y, en consecuencia, disminución de la tasa de recaídas, en comparación con el tratamiento de monoterapia. En general es un fármaco bien tolerado pero puede tener reacciones adversas; el más grave es el síndrome de ácido transretinoico (ATRA), potencialmente mortal. Las manifestaciones clínicas son: fiebre, ganancia de peso, infiltrados pulmonares, síndrome de dificultad respiratoria, derrame pleural o pericárdico, hipotensión, insuficiencia hepática y renal. El tratamiento es con suspensión del ácido transretinoico, medidas de apoyo y altas dosis de esteroides. Se presenta un caso clínico del hospital del Niño DIF con APL y Síndrome de ATRA.

The leukemia promyelocytic acute (APL) is the subtype of leukemia myeloid acute of better prognosis in children. Its incidence is less than 10%. From the point of view cytogenetic is observed a translocation t (15; 17). The addition of the acid transretinoico has achieved high rates of complete remission because of the rapid disappearance of the coagulopathy and, consequently, decrease in the rate of relapses, compared with monotherapy treatment. In general it is a well-tolerated drug but can have adverse reactions; the most serious is transretinoico acid (ATRA), potentially fatal syndrome. The manifestations are: fever, weight gain, pulmonary infiltrates, syndrome of shortness of breath, hypotension, pleural effusion or pericardial, hepatic and renal insufficiency. The treatment is with suspension of the acid transretinoico, measures of support and high doses of steroids. It presents a case clinical of the Hospital del Niño DIF with APL and syndrome of ATRA.

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives / Consenso brasileiro sobre distrofia muscular de Duchenne - Parte 1 diagnóstico, corticoterapia e perspectivas

ABSTRACT Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD. The main recommendations: 1) genetic testing in diagnostic suspicious cases should be the first line for diagnostic confirmation; 2) patients diagnosed with DMD should have steroids prescribed; 3) lack of published results for phase 3 clinical trials hinders, for now, the recommendation to use exon skipping or read-through agents.

RESUMO Avanços na compreensão e no manejo da distrofia muscular de Duchenne (DMD) ocorreram desde a publicação de diretrizes internacionais em 2010. Nosso objetivo foi elaborar um consenso nacional baseado em evidências de cuidado multidisciplinar dos pacientes com DMD no Brasil. Utilizamos a técnica de Delphi combinada com revisão sistemática da literatura de 2010 a 2016 classificando níveis de evidência e graus de recomendação. Nossas recomendações foram divididas em duas partes. Apresentamos aqui a parte 1, descrevendo a metodologia utilizada e conceitos gerais da doença, e fornecemos recomendações sobre diagnóstico, tratamento com corticosteroides e novas perspectivas de tratamentos medicamentosos. As principais recomendações: 1) testes genéticos deveriam ser a primeira linha para confirmação de casos suspeitos; 2) pacientes com diagnóstico de DMD devem receber corticosteroides; 3) por enquanto, a falta de publicações de resultados dos ensaios clínicos de fase 3, dificulta recomendações de uso medicamentos que "saltam exons" ou "passam" por código de parada prematura.