Consideraciones bioéticas en el manejo de la esclerosis lateral amiotrófica: Una aproximación al quehacer fonoaudiológico

Introducción: La esclerosis lateral amiotrófica (ELA) es la forma más común de enfermedad degenerativa de motoneurona en la edad adulta y es considerada una enfermedad terminal. Por lo mismo, el accionar del fonoaudiólogo debe considerar el respeto a los principios bioéticos básicos para garantizar una asistencia adecuada. Objetivo: Conocer aquellas consideraciones bioéticas relacionadas al manejo y estudio de personas con ELA para luego brindar una aproximación hacia el quehacer fonoaudiológico. Método: Se efectuó una búsqueda bibliográfica en las bases de datos PubMed, Scopus y SciELO. Se filtraron artículos publicados desde 2000 hasta junio de 2023 y fueron seleccionados aquellos que abordaban algún componente bioético en población con ELA. Resultados: Aspectos relacionados al uso del consentimiento informado y a la toma de decisiones compartidas destacaron como elementos esenciales para apoyar la autonomía de las personas. Conclusión: Una correcta comunicación y una toma de decisiones compartida son claves para respetar la autonomía de las personas. A su vez, la estandarización de procedimientos mediante la investigación clínica permitirá aportar al cumplimiento de los principios bioéticos de beneficencia y no maleficencia, indispensables para la práctica profesional.

Introduction: Amyotrophic lateral sclerosis (ALS) is the most common form of degenerative motor neuron disease in adulthood and is considered a terminal disease. For this reason, the actions of the speech therapist must consider respect for basic bioethical principles to guarantee adequate assistance. Objective: To know those bioethical considerations related to the management and study of people with ALS to then provide an approach to speech therapy. Methodology: A bibliographic search was carried out in the PubMed, Scopus, and SciELO databases. Articles published from 2000 to June 2023 were filtered and those that addressed a bioethical component in the population with ALS were selected. Results: Aspects related to the use of informed consent and shared decision-making stood out as essential elements to support people's autonomy. Conclusion: Proper communication and shared decision-making are key to respecting people's autonomy. In turn, the standardization of procedures through clinical research will contribute to compliance with the bioethical principles of beneficence and non-maleficence, essential for professional practice.

A comprehensive review on frontotemporal dementia: its impact on language, speech and behavior / Uma revisão abrangente sobre demência frontotemporal: seu impacto na linguagem, fala e comportamento

ABSTRACT. Frontotemporal dementia (FTD) is a progressive neurodegenerative disorder defined by the selective deterioration of the frontal and temporal lobes of the brain. This comprehensive review explored the effect of FTD on language, speech, and behavior. Early symptoms include difficulty in word finding, reduced speech output, and comprehension deficits, often leading to aphasia. The study discussed the profound behavioral changes observed in FTD patients, including apathy, disinhibition, compulsive behaviors, and loss of empathy, the importance of an accurate and early diagnosis, and its challenges. We even reviewed the potential for targeted therapies and the essential role of multidisciplinary care in managing the language, speech, and behavioral aspects of FTD. By examining objective data and comprehensive research on the subject, this study offers valuable insights into FTD's profound effects on language, speech, and behavior, assisting in improved clinical management and potential therapeutic strategies for this devastating condition.

RESUMO. A demência frontotemporal (DFT) é uma doença neurodegenerativa progressiva definida pela deterioração seletiva dos lobos frontal e temporal do cérebro. Esta revisão abrangente explorou o efeito da DFT na linguagem, na fala e no comportamento. Os primeiros sintomas incluem dificuldade em encontrar palavras, redução da produção de fala e déficits de compreensão, muitas vezes levando à afasia. A revisão discutiu as profundas mudanças comportamentais observadas em pacientes com DFT, incluindo apatia, desinibição, comportamentos compulsivos e perda de empatia, a importância de um diagnóstico preciso e precoce e seus desafios. Também foi revisado o potencial para terapias direcionadas e o papel essencial do cuidado multidisciplinar no gerenciamento dos aspectos de linguagem, fala e comportamentais da DFT. Ao examinar os dados objetivos e a pesquisa abrangente sobre o assunto, esta revisão oferece insights valiosos sobre os efeitos profundos da DFT na linguagem, na fala e no comportamento, auxiliando no melhor manejo clínico e em possíveis estratégias terapêuticas para essa condição devastadora.

Telehealth for amyotrophic lateral sclerosis in a multidisciplinary service in a Brazilian reference center / Telessaúde para esclerose lateral amiotrófica em um serviço multidisciplinar em um centro de referência brasileiro

Abstract Background Telehealth has been used in the treatment of different diseases, and it has been shown to provide benefits for patients with amyotrophic lateral sclerosis (ALS). Due to the social distancing measures put into effect during the coronavirus disease 2019 (COVID-19) pandemic, there was an urgent need for telehealth to ensure the provision of healthcare. Objective To evaluate the feasibility of telehealth for the provision of multidisciplinary ALS care, and to assess its acceptability among patients and caregivers. Methods We conducted a retrospective cohort study in which multidisciplinary evaluations were performed using the Teleconsulta platform. The patients included had ALS and at least one in-person clinical evaluation. The patients and the caregivers answered satisfaction questionnaires. Results The sample was composed of 46 patients, 32 male and 14 female subjects. The average distance from their residences to the reference services was of 115 km. Respiratory adjustment was the most addressed topic. Conclusion The strategy is viable and well accepted in terms of satisfaction. It was even more positive for patients in advanced stages of the disease or for those living far from the referral center.

Resumo Antecedentes A telessaúde tem sido utilizada no tratamento de diferentes doenças, e demonstrou-se que ela traz benefícios para pacientes com esclerose lateral amiotrófica (ELA). Devido às medidas de distanciamento social postas em prática durante a pandemia de doença do coronavírus 2019 (coronavirus disease 2019, COVID-19, em inglês), houve uma necessidade urgente de se usar a telessaúde para garantir a provisão dos cuidados de saúde. Objetivo Avaliar a viabilidade da telessaúde para a prestação de cuidados multidisciplinares na ELA, e verificar a sua aceitabilidade entre os pacientes e os cuidadores. Métodos Realizou-se um estudo de coorte retrospectivo, com avaliações multidisciplinares realizadas por meio da plataforma Teleconsulta. Os pacientes incluídos apresentavam ELA, e já haviam passado por pelo menos uma avaliação clínica presencial. Os pacientes e os cuidadores responderam a questionários de satisfação. Resultados A amostra continha 46 pacientes, 32 do sexo masculino e 14 do sexo feminino. A distância média de suas residências ao serviço de referência era de 115 km. O ajuste respiratório foi o tema mais abordado. Conclusão A estratégia é viável e bem-aceita em termos de satisfação. Foi ainda mais positiva para os pacientes com doença avançada ou residentes em uma cidade distante do centro de referência.

Amyotrophic lateral sclerosis caused by a rare mutation in the SOD1 gene at p. H44R locus： a case report and literature review / 中风与神经疾病杂志

@#Objective This study aims to explore the clinical characteristics of common mutation sites in the SOD1 gene and provide assistance for the early identification, diagnosis, and course evaluation of amyotrophic lateral sclerosis (ALS). Methods The clinical data and genetic testing results of a patient with ALS caused by the c.131A>G:p.H44R mutation in the second exon of the SOD1 gene were retrospectively analyzed and discussed in conjunction with the literature. Results The patient presented with pain and weakness in the right lower limb accompanied by muscle atrophy. No positive signs were observed in the sensory system. The electromyogram revealed subclinical neurogenic changes in the unaffected limbs. Whole-exome sequencing identified a rare mutation in exon c.131A>G:p.H44R of the SOD1 gene. Conclusion Early diagnosis of ALS is challenging, and the clinical manifestations vary depending on the gene site mutations. Genetic testing can assist in diagnosis and has significant identification value in the early stages of the disease.

ZHANG Yunling's Experience in the Treatment of Amyotrophic Lateral Sclerosis from Emphasis on both Spleen and Kidney / 中医杂志

This paper summarized Professor ZHANG Yunling's experience in the treatment of amyotrophic lateral sclerosis （ALS） from emphasis on both spleen and kidney. It is considered that the characteristic of ALS manifested as overlap of atrophy-flaccidity disease and convulsive disease， and the core pathogenesis are the deficiency of spleen and kidney and the inner pathogenic qi. ZHANG advocated that ALS should be treated from tonifying both the spleen and kidney， as strong spleen and kidney led the latent pathogen at peace. Usually applied Huangqi （Astragalus mongholicus）， Baizhu （Atractylodes macrocephala） combined with Taizishen （Pseudostellaria heterophylla）， fried Yiyiren （Coix lacryma-jobi）， Doukou （Myristica fragrans） and Sharen （Wurfbainia villosa） to tonify the middle and replenish qi， ascend lucidity and descend turbidity to invigorate the spleen； Roucongrong （Cistanche deserticola）， Tusizi （Cuscuta chinensis） combined with Shanyao （Dioscorea oppositifolia）， Shanzhuyu （Cornus officinalis） and prepared Dihuang （Rehmannia glutinosa） are used to support the fire and nourish the water， so as to replenish the spleen. The empirical formula regarded invigorateing the spleen and replenishing the kidney as the core therapeutic principle throughout the treatment of the whole process， which aimed at extinguishing inner wind and pacifying latent pathogen when treating the root.

Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis / Erros de diagnóstico em uma população brasileira com esclerose lateral amiotrófica

Abstract Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. The correct diagnosis at the onset of the disease is sometimes very difficult, due to the symptoms being very similar to those of other neurological syndromes. Objective This study aimed to analyze the initial manifestations, the specialty of the first physician visited due the initial complaint, the misdiagnoses, as well as the unnecessary surgical interventions in a new ALS Brazilian population. Methods The medical records of 173 patients with typical ALS were reviewed. Results The present study demonstrated that other symptoms, besides weakness, were very frequent as initial presentation of ALS, and orthopedics was the medical specialty most sought by patients at the onset of symptoms. Our frequency of misdiagnoses was 69.7%, and in 7.1% of them, an unnecessary surgical intervention was performed. Conclusions Amyotrophic lateral sclerosis presents a very large pool of signs and symptoms; therefore, there is an urgent need of increasing the disease awareness to other specialties due to the high frequency of misdiagnoses observed in clinical practice.

Resumo Antecedentes A esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa que afeta os neurônios motores superior e inferior. O diagnóstico correto no início da doença é, às vezes, muito difícil, pois os sintomas de início são muito semelhantes aos de outras síndromes neurológicas. Objetivo Este estudo teve como objetivo analisar as manifestações iniciais, a especialidade do primeiro médico visitado devido à queixa inicial, os diagnósticos errôneos, bem como as intervenções cirúrgicas desnecessárias em uma nova população brasileira acometida por ELA. Métodos Os prontuários médicos de 173 pacientes com ELA típica foram revisados. Resultados O presente estudo demonstrou que outros sintomas, além da fraqueza, foram muito frequentes como apresentação inicial da ELA, sendo a ortopedia a especialidade médica mais procurada pelos pacientes no início dos sintomas. Nossa frequência de diagnósticos errôneos foi de 69,7%, e em 7,1% deles foi realizada intervenção cirúrgica desnecessária. Conclusões A ELA apresenta um conjunto amplo de sinais e sintomas; portanto, há necessidade urgente de uma melhor educação de outras especialidades devido à alta frequência de diagnósticos equivocados observada na prática clínica.

O'Sullivan-McLeod Syndrome: A Case Report / 罕见病研究

O'Sullivan-Mcleod syndrome is a very rare variant of MND with a good prognosis. Its clinical feature is distal lower motor neuron syndrome of both upper limbs, and there is no effective treatment at present. We reported a case of O'Sullivan-Mcleod syndrome in this paper.The patient exhibited with middle-aged progressive distal muscle weakness and atrophy of both upper limbs, without sensory, cognitive or behavioral impairment and without pyramidal tract sign. Laboratory examination, imaging and genetic tests showed no obvious abnormalities. EMG revealed neurogenic damage to the small muscles of both hands. Now we retrospectively analyzed the clinical features of a patient with O'Sullivan-McLeod syndrome, and data from 18 cases for comparative analysis, in order to improve its understanding by clinicians.

Impacto do tratamento medicamentoso na voz, fala e deglutição de pacientes com esclerose lateral amiotrófica: revisão sistemática / Impact of drug treatment on voice, speech, and swallowing in patients with amyotrophic lateral sclerosis: a systematic review

RESUMO Objetivos Revisar sistematicamente a literatura sobre o impacto do tratamento medicamentoso nas funções de voz, fala e deglutição de indivíduos adultos com esclerose lateral amiotrófica esporádica, mensuradas por meio de escalas e seus respectivos escores, em relação ao grupo placebo. Estratégia de pesquisa A busca foi realizada com base na estratégia PICO (problema/população/paciente; intervenção; comparação/controle; desfecho/outcome). As palavras-chave foram selecionadas a partir de consulta aos Descritores em Ciências da Saúde (DeCS) e ao Medical Subject Headings (MeSH). Dois pesquisadores independentes fizeram busca na American Speech-Language-Hearing Association (ASHA), Cochrane, LILACS, PubMed, Scopus e Web of Science, em inglês, espanhol e português. Critérios de seleção Foram incluídos ensaios clínicos randomizados, realizados em adultos, e excluídos artigos cujos desfechos estavam relacionados à autoavaliação e à qualidade de vida, teses, dissertações, apenas resumos disponíveis, estudos de caso, estudos experimentais, capítulos de livro, enciclopédias e comunicações breves. Os estudos foram avaliados por meio das ferramentas Robins II (Risk Of Bias In Non-randomized Studies II) e GRADE (Grading of Recommendations Assessment, Development and Evaluation). Resultados dos 9824 artigos encontrados, 5 realizaram a intervenção medicamentosa e foram selecionados para análise. Observou-se ausência de estudos voltados para reabilitação das funções bulbares. A qualidade de evidência gerada variou de alto a baixo risco e o nível de evidência, de baixo a muito baixo. Conclusão a maioria dos estudos demonstra que o tratamento medicamentoso atrasa a degeneração das funções bulbares, com relação ao placebo, embora tal achado não tenha sido observado nos escores de escalas que mensuram tais funções. Os estudos apresentam risco de viés de seleção e muito baixa/baixa qualidade metodológica, limitando a confiança nos achados.

ABSTRACT Purpose To carry out a systematic review of the literature on the impact of drug treatment on the voice, speech, and swallowing functions of adult individuals with sporadic ALS, measured through scales and their respective scores, concerning the placebo group. Research strategy The search strategy was created based on the PICO strategy. The keywords were selected from a consultation with the health sciences descriptors - DECS and the medical subject headings - MeSH. Two independent researchers searched ASHA, Cochrane, Lilacs, Pubmed, Scopus and Web of Science, in English, Spanish and Portuguese. Selection criteria Randomized clinical trials, carried out on adults, were included, and articles with outcomes related to selfassessment and quality of life, theses, dissertations, abstracts only , case studies, experimental studies, book chapters, encyclopedia and brief communication were excluded. The studies were evaluated using the Robins II and Grade tool. Results Of the 9824 articles found, 5 were selected for analysis and underwent drug intervention. It is noticed the absence of studies aimed at the rehabilitation of bulb functions. The quality of evidence generated varied from high to low risk and the level of evidence low and very low. Conclusion Most studies show a delay in the degeneration of bulbar functions in relation to placebo, although this finding has not been observed in the scores of scales that measure such functions. Studies are at risk of selection bias and very low/low methodological quality makes the findings questionable.

Associations of motor neuron disease research productivity and socioeconomic factors in Southeast Asia: a bibliometric analysis / Associações entre produtividade em pesquisa sobre doenças do neurônio motor e fatores socioeconômicos no sudeste asiático: uma análise bibliométrica

ABSTRACT Background: Scientific productivity on motor neuron disease (MND) research has been hypothesized to be low in Southeast Asia (SEA). Objective: To investigate the scientific productivity of SEA countries on MND and the associations between research metric indices and various country-specific socioeconomic parameters. Methods: We searched electronic databases for relevant articles from SEA on MND from the earliest indexed record to June 30, 2020. We obtained the following research productivity indices: bibliometric (number of publications in journals with impact factor (IF) and Scopus citations) and altmetric indices (PlumX metrics). We also collected data from published literature and reliable sources on the following socioeconomic variables: population, gross domestic product (GDP), GDP per capita, %GDP allocated for research and development (R&D) and the number of neurologists per country. Results: We included 196 articles that satisfied our inclusion criteria. Amyotrophic lateral sclerosis studies comprised the majority of the articles (n = 112; 57.1%). The top three countries in terms of the numbers of publications in journals with IF and in PlumX metrics were Singapore (n = 129), Malaysia (n = 26), and Thailand (n = 18). GDP per capita, %GDP for R&D and number of neurologists per one million population had strong positive correlations with the bibliometric and altmetric indices. Conclusions: This study highlights that although the scientific productivity of MND research in SEA has been low, it is continuously growing. This also emphasizes the imperative to improve economic indices and the number of neurologists in SEA to enhance scientific output on MND.

Resumo Antecedentes: A produtividade científica em pesquisa sobre doenças do neurônio motor (DNM) tem sido considerada baixa no sudeste asiático. Objetivo: Investigar a produtividade científica sobre DNM em países do sudeste asiático e as associações entre os índices métricos de pesquisa e vários parâmetros socioeconômicos específicos de cada país. Métodos: Foram consultadas bases de dados eletrônicas em busca de artigos relevantes sobre DNM provenientes do sudeste asiático, partindo do registro indexado mais antigo até 30 de junho de 2020. Obtivemos os seguintes índices de produtividade em pesquisa: bibliométrico (número de publicações em periódicos com fator de impacto (FI) e citações na base Scopus) e índices altmétricos (métrica PlumX). Também coletamos dados da literatura publicada e fontes confiáveis ​​sobre as seguintes variáveis ​​socioeconômicas: população, produto interno bruto (PIB), PIB per capita, % do PIB alocada para pesquisa e desenvolvimento (P & D) e o número de neurologistas por país. Resultados: Selecionamos 196 artigos que atenderam aos nossos critérios de inclusão. Estudos sobre esclerose lateral amiotrófica representaram a maioria dos artigos (n = 112; 57,1%). Os três principais países em termos de número de publicações em periódicos com FI e em métricas PlumX foram Cingapura (n = 129), Malásia (n = 26) e Tailândia (n = 18). O PIB per capita, a % do PIB para P & D e o número de neurologistas por um milhão de habitantes tiveram fortes correlações positivas com os índices bibliométricos e altmétricos. Conclusões: Embora a produtividade científica em pesquisa sobre DNM no sudeste asiático ainda seja baixa, este estudo mostra que ela vem crescendo continuamente. Isto também enfatiza a necessidade de melhorar os índices econômicos e o número de neurologistas na região para aumentar a produção científica sobre o assunto.

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review / Atrofia muscular espinhal não-5q proximal de início no adulto: uma revisão abrangente

Abstract Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysiological aspects related to the classical and recently described forms of proximal SMA. Methods: The authors performed a non-systematic critical review summarizing adult-onset proximal SMA presentations. Results: Previously limited to cases of SMN1-related SMA type 4 (adult form), this group has now more than 15 different clinical conditions that have in common the symmetrical and progressive compromise of lower motor neurons starting in adulthood or elderly stage. New clinical and genetic subtypes of adult-onset proximal SMA have been recognized and are currently target of wide neuroradiological, pathological, and genetic studies. Conclusions: This new complex group of rare disorders typically present with lower motor neuron disease in association with other neurological or systemic signs of impairment, which are relatively specific and typical for each genetic subtype.

RESUMO Antecedentes: Atrofia muscular espinhal (AME) de início no adulto representa um grupo de doenças neurodegenerativas hereditárias em expansão na prática clínica. Objetivo: Este artigo de revisão sintetiza os principais aspectos clínicos, genéticos, radiológicos, bioquímicos e neurofisiológicos relacionados às formas clássicas e recentemente descritas de AME proximal do adulto. Métodos: Os autores realizaram uma revisão crítica não sistemática descrevendo as principais apresentações de AME proximal de início no adulto. Resultados: Previamente restrito às apresentações de AME tipo 4 associada ao gene SMN1, este grupo atualmente envolve mais de 15 diferentes condições clínicas que compartilham entre si a presença de comprometimento progressivo e simétrico do neurônio motor inferior se iniciando no adulto ou no idoso. Novos subtipos clínicos e genéticos de AME proximal de início no adulto foram reconhecidas e são alvos atuais de estudos direcionados a aspectos neurorradiológicos, patológicos e genéticos. Conclusões: Este novo grupo complexo de doenças raras tipicamente se apresenta com doença do neurônio motor inferior em associação com outros sinais de comprometimento neurológico ou sistêmico, os quais apresentam padrões relativamente específicos para cada subtipo genético.

Prescription patterns of riluzole in a population of patients with motor neuron disease / Patrón de prescripción de riluzol en una población de pacientes con enfermedad de neurona motora

SUMMARY OBJECTIVE: To determine the prescription pattern of riluzol and the variables associated to its use in a population of patients with motor neuron disease affiliated to the Colombian General Social Security Health System (SGSSS) in 2017. METHOD: Descriptive cross-sectional study. Through a systemized data base of approximately 3,5 million members to the Colombian SGSSS; patients who had been given riluzol uninterruptedly between April 1 and June 30 of 2017, were selected. Sociodemographic, pharmacological variables and comorbidities were analyzed. Defined daily dose (DDD) was estimated for 1.000 inhabitants/day and its costs. RESULTS: There were found 81 patients with motor neuron disease receiving riluzol, with an average age of 60,8+12,6 years. 48.1% were male. The prevalence of motor neuron disease was 29/100.000 individuals. Patients received riluzol in 50 mg tablets and the doses was estimated in 0,016 DDD for 1.000 inhabitants/day 63% were receiving medicines that reflect comorbidity or could interact with riluzol. The total cost of riluzol dispensed in 2017 was USD 85.348 and per prescribed daily dose on average was USD 2,3. CONCLUSIONS: The use of riluzol in patients with motor neuron disease in Colombia was carried by the recommended doses by the WHO and with a direct cost lower than reported in other countries. Studies are recommended in order to determine the effectiveness of riluzol in real-life conditions.

RESUMEN OBJETIVOS: Determinar el patrón de prescripción de riluzol y las variables asociadas a su utilización en una población de pacientes con enfermedad de neurona motora afiliados al Sistema General de Seguridad Social en Salud de Colombia (SGSSS) en 2017. METODOLOGÍA: Estudio descriptivo de corte transversal. Mediante una base de datos sistematizada de aproximadamente 3,5 millones de afiliados al SGSSS de Colombia; se seleccionaron pacientes a quienes se les haya dispensado riluzol de manera ininterrumpida entre 1 abril y 30 junio de 2017. Se analizaron variables socio-demográficas, farmacológicas y las comorbilidades. Se estimaron la dosis diaria definida (DDD) por 1.000 habitantes/día y los costos. RESULTADOS: Se encontraron 81 pacientes con enfermedad de neurona motora recibiendo riluzol, con edad promedio de 60,8+12,6 años. El 48,1% eran hombres. La prevalencia de enfermedad de neurona motora fue 2,29/100.000 personas. Los pacientes recibieron riluzol en tabletas de 50 mg y se estimó la dosis en 0,016 DDD por 1.000 habitantes/día. El 63% recibían medicamentos que reflejan comorbilidad o pudieran tener interacción con riluzol. El costo total del riluzol dispensado en 2017 fue USD 85.348 y por dosis diaria prescrita en promedio fue USD 2,3. CONCLUSIONES: El uso de riluzol en pacientes con enfermedad de neurona motora en Colombia se realizó a las dosis recomendadas por la OMS y con un costo directo menor al reportado en otros países. Se recomienda realizar estudios que permitan determinar la efectividad del riluzol en condiciones de la vida real.

Perfil epidemiológico dos pacientes com esclerose lateral amiotrófica acompanhados na Associação de Assistência à Criança Deficiente / Epidemiological profile of patients with amiotrophic lateral sclerosis accompanied in the Associação de Assistência à Criança Deficiente

A Esclerose Lateral Amiotrófica (ELA) é uma doença neurodegenerativa caracterizada por perda irreversível dos neurônios motores da medula espinal, tronco encefálico e córtex cerebral, levando à atrofia muscular, espasticidade e consequentemente à morte. Objetivo: Verificar a prevalência da ELA na Associação de Assistência à Criança Deficiente (AACD) ­ Unidade Ibirapuera e caracterizar os indivíduos acometidos quanto à evolução da doença durante o processo de reabilitação, a fim de traçar um perfil epidemiológico desta população. Método: Trata-se de um estudo retrospectivo, baseado em informações contidas em prontuário, referentes a pacientes que realizaram reabilitação durante o período de janeiro de 2008 a janeiro de 2018, sendo a busca pelos dados guiada a partir de formulário desenvolvido exclusivamente para este estudo. Resultados: A prevalência dos pacientes com ELA em tratamento na clínica de doenças neuromusculares é de 11,6%. O perfil desses pacientes é ligeiramente maior do sexo feminino de cor branca, com uma média de idade de 59 anos, sendo a hipertensão arterial sistêmica a comorbidade mais encontrada. A forma de ELA mais frequente foi a esporádica, e o medicamento mais utilizado foi o Riluzole. Houve grande variabilidade de objetivos fisioterapêuticos e aumento do uso da ventilação mecânica não invasiva. Não houve associação entre a presença de marcha na última avaliação e o tempo do paciente em fisioterapia. Conclusão: Os objetivos estão de acordo com a literatura, bem como demonstram a importância de conhecermos melhor a população para termos uma abordagem multidisciplinar mais adequada para estes pacientes.

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by irreversible loss of motor neurons in the spinal cord, brainstem and cerebral cortex, leading to muscle atrophy, spasticity and consequently death. Objective: To verify theprevalence of ALS in the Associação de Assistência à Criança Deficiente (AACD) ­ Ibirapuera's unit and to characterize the individuals affected by the disease during the rehabilitation process, in order to draw an epidemiological profile of this population. Method: This is a retrospective study, based on information contained in medical records, referring to a study conducted during the period from January 2008 to January 2018, being a data search guided by a resource developed for this study. Results: The prevalence of patients with ALS in the treatment of neuromuscular diseases is 11.6%. The profile of these patients is slightly higher in white females, with a mean age of 59 years, with systemic arterial hypertension being the most common comorbidity. The most common ALS was sporadic, and Riluzole was the most commonly used drug. There was great variability of physiotherapeutic objectives and an increase in the use of non-invasive mechanical ventilation. There was no association between the presence of gait in the last evaluation and the time of the patient in physical therapy. Conclusion: The objectives are in agreement with the literature, as well as it cites the importance of knowing the population better to have a multidisciplinaryapproach more suitable for these patients.

La enfermedad neurológica de Leonardo da Vinci / The neurological disease of Leonardo da Vinci

Introducción: el año 2019 se conmemoraron los 500 años de la muerte de Leonardo da Vinci en el Chateux du Cloux, Francia. Según registros históricos, Leonardo vivió los últimos años de su vida con una parálisis en su mano derecha, atribuida a un probable accidente cerebrovascular (ACV), lo cual afectó a su capacidad para emprender nuevos proyectos pictóricos. Este trabajo describe como fueron los últimos años de vida de Leonardo, revisa los antecedentes sobre salud y su probable enfermedad neurológica, sus eventuales etio-logías y sus consecuencias. Desarrollo: Leonardo llegó a Francia en 1516 por invitación del rey Francisco I para llevar el Renacimiento y completar su formación personal. En 1517 es visitado por el cardenal Luis de Aragón, y su secretario registra en su diario que Leonardo se encuentra afectado de una parálisis de la mano derecha. Algunos autores sugieren un ACV como causa probable, sobretodo porque según el historiador Vasari, Leonardo vivió sus últimos años en condición de discapacidad. Se llega a plantear que su condición de vege-tariano habría podido influir como factor de riesgo de ACV. Sin embargo, un dibujo no fechado de Figino muestra a Leonardo con una parálisis de tipo periférica de la mano derecha, abriendo el diagnóstico diferencial. Conclusiones: no hay información suficiente para valorar el tipo y la causa de enfermedad neurológica de Leonardo da Vinci, no obstante, está influyó significativamente en su interacción con su discípulo Francisco Melzi y su mecenas Francisco I, hecho que contribuyó a que su legado perdure hasta hoy.

Introduction: the year2019 marked the 500th anniversary of the death of Leonardo da Vinci at the Chateau du Cloux, France. According to historical records, Leonardo lived the last years of his life with palsy on his right hand, attributed to a probable stroke, which affected his ability to undertake new pictorial projects. This study describes how were the last years of Leonardo's life, reviews his medical history and his probable neurological disease, with its possible etiologies and its consequences. Discussion: Leonardo arrived in France in 1516 invited by King Francis I to lead the Renaissance and complete his education. In 1517, cardinal Luis de Aragón visited Leonardo, and his secretary recorded in his diary that he was affected by a palsy on his right hand. Some authors suggest that stroke could have been a probable cause, especially because according to the historian Vasari, Leonardo lived his last years in a condition of disability. His vegetarian food habit could have been a risk factor for his suspected stroke. However, an undated drawing by Figino shows Leonardo with a peripheral nerve palsy on his right hand, opening up the differential diagnosis. Conclusions:there is not enough information to assess the type and cause of Leonardo da Vinci's neurological disease. However, this condition significantly affected his interaction with his discipleFrancisco Melzi and his patron Francisco I, a fact that contributed to his legacy enduring until today.

Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery / Manejo da administração intratecal de nusinersena em adolescentes e adultos com atrofia muscular espinhal 5q e cirurgia prévia de coluna

ABSTRACT Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity. Nusinersen is an antisense oligonucleotide that increases SMN protein level and is administrated by frequent intrathecal lumbar injections. Thus, spinal deformities and previous spinal surgery are important challenges for drug delivery in SMA. Objective: To report imaging methods used for Nusinersen injection in SMA patients. Methods: Nusinersen injection procedures in SMA types 2 and 3 patients who had previous spinal surgery were analyzed retrospectively to describe the imaging and puncture procedures, as well as the occurrence of complications. Results: Nine SMA patients (14 to 50 years old) underwent 57 lumbar punctures for nusinersen injection. Six patients had no interlaminar space available; in five of them, a transforaminal approach was used, and another one underwent a surgery to open a posterior bone window for the injections. Transforaminal puncture was performed using CT scan in three cases and fluoroscopy in the other two, with a similar success rate. One patient in the transforaminal group had post-procedure radiculitis, and another one had vagal reaction (hypotension). In three cases, with preserved interlaminar space, injections were performed by posterior interlaminar puncture, and only one adverse event was reported (post-puncture headache). Conclusion: In SMA patients with previous spinal surgery, the use of imaging-guided intervention is necessary for administering intrathecal nusinersen. Transforaminal technique is indicated in patients for whom the interlaminar space is not available, and injections should always be guided by either CT or fluoroscopy.

RESUMO Introdução: A atrofia muscular espinal (AME) é uma desordem neurodegenerativa dos motoneurônios inferiores frequentemente associada à ocorrência de deformidade da coluna vertebral. Nusinersena é um oligonucleotídeo antisense que aumenta os níveis da proteína SMN, sendo administrado através de injeções lombares intratecais frequentes. Assim, deformidades da coluna vertebral e abordagem cirúrgica prévia são desafios importantes para a administração de medicamentos na AME. Objetivo: descrever os métodos de imagens utilizados para administração do Nusinersena nos pacientes com AME. Métodos: Os procedimentos de administração de nusinersena em pacientes com AME dos tipos 2 e 3 submetidos à cirurgia prévia da coluna foram analisados retrospectivamente para descrever os métodos de imagem e punção, e a ocorrência de complicações. Resultados: Nove pacientes com AME (14 a 50 anos) foram submetidos a 57 punções lombares para administração de nusinersena. Seis pacientes tinham enxerto ósseo ou nenhum espaço interlaminar disponível; em cinco deles foi utilizada uma abordagem transforaminal, e outra paciente foi submetida à abertura cirúrgica de janela óssea para as injeções. A punção transforaminal foi realizada usando tomografia computadorizada (TC) em três casos e fluoroscopia nos outros dois, com taxa de sucesso semelhante. Um paciente no grupo de abordagem transforaminal apresentou radiculite pós-procedimento e outro apresentou reação vagal (hipotensão). Em três casos, com espaço interlaminar preservado, foram realizadas técnica de punção interlaminar posterior e apenas um evento adverso foi relatado (cefaleia pós-punção). Conclusão: Em pacientes com AME e cirurgia prévia, o uso de intervenção guiada por imagem é necessário para a administração de nusinersena. A técnica transforaminal é indicada nos casos onde o espaço interlaminar não está disponível, devendo ser guiada por TC ou técnicas de imagem fluoroscópica.

Analysis of electromyography and imaging characteristics of 5 cases of Hirayama disease / 中风与神经疾病杂志

@#Discuss the electromyography and imaging characteristics of Hirayama disease，and improve clinicians’ awareness of the disease. Methods A retrospective analysis of clinical data of five cases of Hirayama disease patients in our hospital，analyze its clinical manifestations，EMG and imaging features. Results 5 patients were male，age 18 to 28 years old，（3 cases） unilateral，bilateral involvement in two cases of asymmetry. Five patients showed the hand and forearm muscle weakness with atrophy，forearm ramp-like changes，with cold paralysis. Motor nerve conduction delay mainly ulnar nerve terminal during latent，median nerve，ulnar nerve compound muscle action potential （the CMAP） amplitude decreased，no motor nerve conduction block；sensory nerve conduction were normal. Needle electrode EMG neurogenic damage，abnormal muscle mainly in the C7-T1 segment dominated area. MRI in the neutral position of the cervical spine in 5 patients showed that the physiological curvature was straightened or the spinal cord was slightly thinned；2 cases showed LOA phenomenon in the cross section；5 cases showed different degrees of compression of the cervical spinal cord forward and the epidural space signal shadow in the flexion position，enhanced scanning Abnormal enhancement in the epidural space can be seen. Conclusion According to the clinical manifestations of Hirayama disease combined with its characteristic electromyography and MRI features，early diagnosis of Hirayama disease can be made.

Clinical characteristics and treatment analysis of the facial onset sensory and motor neuronopathy / 中风与神经疾病杂志

@#Objective　To retrospectively analyze the clinical characteristics and treatment of patients with facial onset sensory and motor neuronopathy (FOSMN).Methods　FOSMN syndrome were searched in PubMed,EMbase,CBM,CNKI,WanFang Data database,from the date of database establishment to 2019,and combined with a case admitted to our hospital.The clinical characteristics and treatment were analyzed from above data.Results　A total of 27 studies were included,42 males and 25 females,with an average onset age of (51.0±12.4) years.Clinical features:85.1% had numbness in the face or mouth as the initial symptom,53.7% had facial muscle weakness,56.7% had facial muscle atrophy,50.7% had abnormal corneal reflex,more than 80% had bulbar syndrome,and more than 50% had neck flexion or upper limbs weakness,47.8% had neck or upper limb muscle atrophy,and 43.3% had tongue muscle atrophy.Pathological examination of autopsy or muscle biopsy showed loss of involvement nucleus and spinal cord neurons,as well as muscle neurogenic atrophy.TDP-43-positive inclusions were found by autopsy.Neuroelectrophysiological examination:83.6% had prolonged or disappeared blink reflex,88.1% had acute or chronic progressive denervation,and 55.2% had lower SNAP amplitude in upper limbs.Treatment:Of the,1/30 cases had a clear improvement with IVIg therapy.Some patients continued to progress after IVIG,glucocorticoids,and plasma exchange therapy;16 patients were died with an average duration of 7.7 years.Conclusion　FOSMN syndrome begins with abnormal sensory in the trigeminal nerve distribution area.The lesions spread from top to bottom in the brainstem,gradually involving the motor nucleus in bulbar,and spinal cord anterior horn.The abnormal blink reflexes,neurogenic damage,and SNAPs amplitude reduction in neuroelectrophysiological examinations have diagnostic value.There is a high possibility of degenerative diseases and no effective treatment for the disease currently.

Fiberoptic endoscopic evaluation of swallowing in patients with amyothrophic lateral sclerosis: an integrative literature review

ABSTRACT Purpose: to provide an integrative review of the current evidence on the fiberoptic endoscopic evaluation of swallowing performing procedures and analysis parameters in patients with amyotrophic lateral sclerosis. Methods: the study question followed the PECO strategy, and the search was performed in Medline, Cochrane, Scopus, Lilacs, Web of Science, and CINAHL databases, using keywords and specific free terms. Two authors screened eligible articles published from 2013 to October 2021 and extracted data on fiberoptic endoscopic evaluation of swallowing performing procedures and analysis parameters in patients with amyotrophic lateral sclerosis. Literature Review: of the 1,570 articles initially identified, 14 were eligible. There was no consensus on the consistency, volume, and type of food, utensils, sequence, and number of repetitions of each task during the exam. The analysis parameters, when described, were distinct. Although with different classification criteria, the observation of pharyngeal residue, laryngeal penetration, and laryngotracheal aspiration was included in all studies. Conclusion: fiberoptic endoscopic evaluation of swallowing performing procedures and analysis parameters are not standardized in studies with amyotrophic lateral sclerosis patients.

Experience of treating facial neuritis, unexplained limb weakness, cervical spondylosis, acute myelitis, acute radiculitis, Guillain Barre syndrome, multiple sclerosis, myasthenia gravis, motor neuron disease, dermatomyositis with Xiaoxuming Decoction / 中国中药杂志

Xiaoxuming Decoction is an ancient classic herbal formula for the treatment of stroke. In ancient times, the connotation of stroke was very extensive, including facial neuritis, acute cerebral infarction, acute cerebral hemorrhage, sequelae of cerebral hemorrhage, unexplained weakness of limbs, cervical spondylosis, acute myelitis, acute radiculitis, Guillain Barre syndrome, multiple sclerosis, myasthenia gravis, motor neuron disease, dermatomyositis, hypokalemic paralysis peripheral neuritis. It has been identified that: ①Xiaoxuming Decoction is very common in the treatment of cerebrovascular diseases, such as cerebral infarction, cerebral hemorrhage and other cerebrovascular diseases, facial neuritis, acute myelitis, acute radiculitis, Guillain Barre syndrome, unexplained limb weakness, multiple sclerosis, motor neuron disease, myasthenia gravis, and rheumatic and immune system diseases, such as dermatomyositis, and can not only alleviate symptoms, but also improve prognosis and the long-term survival rate. ②Sudden limb failure, facial paralysis, and hypoalgesia without heat syndrome are the key indications of Xiaoxuming Decoction. ③This is a special prescription for the treatment of acute facial neuritis, and can cure in one week in the combination with moxibustion. ④In the treatment of facial neuritis complicated with hypertension or acute cerebrovascular disease, Xiaoxuming Decoction generally has a certain antihypertensive effect, without any hypertensive effect, which reflected its two-way regulatory effect for blood pressure. ⑤In the treatment of unknown limb weakness, acute myelitis, acute radiculitis, Guillain Barre syndrome, Xiaoxuming Decoction can rapidly alleviate the symptoms. ⑥This is the basic formula for multiple sclerosis and motor neuron disease. Long term use of Xiaoxuming Decoction can alleviate the symptom of limb weakness, reduce the occurrence of complications and delay the progress of the disease, but with a poor long-term prognosis. ⑦In the treatment of myasthenia gravis, Xiaoxuming Decoction can significantly improve muscle strength, and gradually help stop hormone reduction. After thymoma surgery, Xiaoxuming Decoction is also applicable to some patients with recurrent myasthenia gravis. ⑧Xiaoxuming Decoction also plays a role in the treatment of dermatomyositis and cervical spondylopathy. ⑨Raw ephedra is the monarch drug of Xiaoxuming Decoction, which is the key to the effect. The dosage starts with 6 g is titrated in a small dose and increases gradually. In addition, this formula is forbidden for those with red face, fast heart rate, high blood pressure, blocked stool, red tongue, yellow fur, wiry and rapid pulse or powerful pulse, and spout pulse.

Genetic approach in amyotrophic lateral sclerosis

The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.

Enfermedad de motoneurona inferior asociada al signo ojos de serpiente: una nueva entidad clínico-radiológica / Lower motor neuron disease with snake eyes sign: a new clinical-radiological entity

Las enfermedades de la moto neurona inferior constituyen un grupo heterogéneo de entidades con pronósticos diferentes. El signo radiológico "ojos de serpiente" hace referencia a la hiperintensidad bilateral en el asta anterior de la médula espinal en los cortes axiales de las imágenes por resonancia magnética, generalmente asociada a afecciones como infartos espinales, amiotrofia espondilótica, enfermedad de Hirayama y esclerosis lateral amiotrófica. Se ha descripto recientemente un reducido número de casos de enfermedad de moto neurona inferior asociada a "ojos de serpiente" con características clínicas y pronóstico distintivos. Presentamos dos casos de enfermedad de moto neurona inferior asociada al signo "ojos de serpiente" en pacientes jóvenes. El curso clínico fue progresivo con períodos prolongados de estabilidad clínica y ausencia de compromiso de moto neurona superior durante la evolución. Los pacientes presentaron debilidad segmentaria y asimétrica de miembros superiores con predominio distal en el primer caso y proximal en el segundo. Los casos presentados se corresponden en gran parte con lo comunicado en la literatura, dando apoyo a la existencia de una nueva entidad con pronóstico relativamente benigno denominada enfermedad de moto neurona inferior esporádica con signo de ojos de serpiente en las imágenes por resonancia magnética y cuya identificación debiera obviar tratamientos innecesarios (AU)

Lower motor neuron diseases are a heterogeneous group of entities with different prognosis. The "snake eyes" sign refers to bilateral hyper intensity of the anterior horns on axial magnetic resonance imaging of the spinal cord. It has been associated with ischemia, cervical spondylosis, Hirayama disease, and amyotrophic lateral sclerosis. Recently, a small number of cases of lower motor neuron disease associated with the "snake eyes" sign have been described as having distinctive clinical manifestations and prognosis. Two young patients with "snake eyes" sign associated with lower motor neuron disease had a progressive initial course followed by a stabilization of symptoms without involvement of upper motor neuron. They presented with asymmetric segmental arm weakness with distal predominance in the first a case and proximal predominance in the second. These cases match with those reported in the literature giving support to lower motor neuron disease with "snake eyes" as a pathological entity with a relatively good prognosis. This diagnosis should avoid unnecessary treatments (AU)