Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.

Mutations in CLCN2 are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional CLCN2 patients and expand the known phenotypic spectrum of this disorder. Informed consent was obtained for all patients. Patients underwent either whole-exome sequencing or focused/panel-based sequencing to identify variants. Twelve patients with biallelic CLCN2 variants are described. This includes three novel likely pathogenic missense variants. All patients demonstrated typical MRI changes, including hyperintensity on T2-weighted images in the posterior limbs of the internal capsules, midbrain cerebral peduncles, middle cerebellar peduncles and cerebral white matter. Clinical features included a variable combination of ataxia, headache, spasticity, seizures and other symptoms with a broad range of age of onset. This report is now the largest case series of patients with CLCN2-related leucoencephalopathy and reinforces the finding that, although the imaging appearance is uniform, the phenotypic expression of this disorder is highly heterogeneous. Our findings expand the phenotypic spectrum of CLCN2-related leucoencephalopathy by adding prominent seizures, severe spastic paraplegia and developmental delay.

Average annual cost of Parkinson's disease in a Brazilian multiethnic population.

INTRODUCTION: With the current demographic transition, it is estimated that by 2050 Brazil will have a population of 90 million people aged 60 years or more, and in parallel Parkinson's disease (PD) will bring a considerable economic burden to our society. Brazil is considered multiracial due to its colonization, generating important social and regional inequalities. Knowing the costs of the PD may aid to improve local public policies. However, in Brazil, no estimates of these values have been made so far. OBJECTIVES: To evaluate direct, indirect, and out-of-pocket costs in Brazilian people with PD (PwP). METHODS: Categorical and numerical data were collected through a customized and standardized cost-related-questionnaire from 1055 PwP nationwide, from 10 tertiary movement disorders centers across all Brazilian regions. RESULTS: The estimated average annual cost of PwP was US$ 4020.48. Direct and indirect costs accounted for 63% and 36% of the total, respectively, and out-of-pocket costs were 49%. There were no evidence of differences in the total cost of PD across the regions of the country; however, differences were reported between the stages of the Hoehn and Yahr scale (H&Y). CONCLUSION: This data suggests a considerable burden of PD for Brazilian society in general, not only for the public health system, but mainly for those with PD.

Definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in amyotrophic lateral sclerosis (ALS): Consensus from ALS and Motor Neuron Disease Scientific Department of the Brazilian Academy of Neurology.

The spectrum of neuropsychiatric phenomena observed in amyotrophic lateral sclerosis (ALS) is wide and not fully understood. Disorders of laughter and crying stand among the most common manifestations. The aim of this study is to report the results of an educational consensus organized by the Brazilian Academy of Neurology to evaluate the definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in ALS patients. Twelve members of the Brazilian Academy of Neurology - considered to be experts in the field - were recruited to answer 12 questions about the subject. After exchanging revisions, a first draft was prepared. A face-to-face meeting was held in Fortaleza, Brazil on 9.23.22 to discuss it. The revised version was subsequently emailed to all members of the ALS Scientific Department from the Brazilian Academy of Neurology and the final revised version submitted for publication. The prevalence of pseudobulbar affect/pathological laughter and crying (PBA/PLC) in ALS patients from 15 combined studies and 3906 patients was 27.4% (N = 1070), ranging from 11.4% to 71%. Bulbar onset is a risk factor but there are limited studies evaluating the differences in prevalence among the different motor neuron diseases subtypes, including patients with and without frontotemporal dementia. Antidepressants and a combination of dextromethorphan and quinidine (not available in Brazil) are possible therapeutic options. This group of panelists acknowledge the multiple gaps in the current literature and reinforces the need for further studies.

O espectro de fenômenos neuropsiquiátricos observados na ELA é amplo e não completamente entendido. Desordens do riso e do choro estão entre as manifestações mais comuns. O objetivo deste estudo é relatar os resultados de um Consenso organizado pela Academia Brasileira de Neurologia para avaliar definições, fenomenologia, diagnóstico, e manejo dos distúrbios do riso e do choro em pacientes com ELA. Doze membros da Academia Brasileira de Neurologia ­ considerados experts na área ­ foram recrutados para responder 12 questões na temática. Depois da verificação das revisões, um primeiro manuscrito foi preparado. Após, foi realizado um encontro presencial em Fortaleza, Brasil, em 23/09/2022, para discussão do conteúdo. A versão revisada foi posteriormente enviada por e-mail para todos os membros do Departamento Científico de DNM/ELA da Academia Brasileira de Neurologia e a versão final revisada foi submetida para publicação. A prevalência da síndrome pseudobulbar em pacientes com ELA em 15 estudos combinados com 3906 pacientes foi de 27,4% (n = 1070), variando entre 11,4% e 71%. Início bulbar é um fator de risco, mas há limitados estudos avaliando as diferenças em prevalência entre os diferentes subtipos de Doença do Neurônio Motor, incluindo pacientes com e sem Demência Frontotemporal. Antidepressivos e uma combinação de dextrometorfana e quinidina (indisponíveis no Brasil) são opções terapêuticas possíveis. Esse grupo de panelistas reconhece as múltiplas demandas não atendidas na literatura atual e reforça a necessidade de futuros estudos.

Definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in amyotrophic lateral sclerosis (ALS): Consensus from ALS and Motor Neuron Disease Scientific Department of the Brazilian Academy of Neurology / Definições, fenomenologia, diagnóstico e manejo das desordens do riso e do choro em esclerose lateral amiotrófica (ELA): Consenso do Departamento Científico de ELA e Doença do Neurônio Motor da Academia Brasileira de Neurologia

Abstract The spectrum of neuropsychiatric phenomena observed in amyotrophic lateral sclerosis (ALS) is wide and not fully understood. Disorders of laughter and crying stand among the most common manifestations. The aim of this study is to report the results of an educational consensus organized by the Brazilian Academy of Neurology to evaluate the definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in ALS patients. Twelve members of the Brazilian Academy of Neurology - considered to be experts in the field - were recruited to answer 12 questions about the subject. After exchanging revisions, a first draft was prepared. A face-to-face meeting was held in Fortaleza, Brazil on 9.23.22 to discuss it. The revised version was subsequently emailed to all members of the ALS Scientific Department from the Brazilian Academy of Neurology and the final revised version submitted for publication. The prevalence of pseudobulbar affect/pathological laughter and crying (PBA/PLC) in ALS patients from 15 combined studies and 3906 patients was 27.4% (N = 1070), ranging from 11.4% to 71%. Bulbar onset is a risk factor but there are limited studies evaluating the differences in prevalence among the different motor neuron diseases subtypes, including patients with and without frontotemporal dementia. Antidepressants and a combination of dextromethorphan and quinidine (not available in Brazil) are possible therapeutic options. This group of panelists acknowledge the multiple gaps in the current literature and reinforces the need for further studies.

Resumo O espectro de fenômenos neuropsiquiátricos observados na ELA é amplo e não completamente entendido. Desordens do riso e do choro estão entre as manifestações mais comuns. O objetivo deste estudo é relatar os resultados de um Consenso organizado pela Academia Brasileira de Neurologia para avaliar definições, fenomenologia, diagnóstico, e manejo dos distúrbios do riso e do choro em pacientes com ELA. Doze membros da Academia Brasileira de Neurologia - considerados experts na área - foram recrutados para responder 12 questões na temática. Depois da verificação das revisões, um primeiro manuscrito foi preparado. Após, foi realizado um encontro presencial em Fortaleza, Brasil, em 23/09/2022, para discussão do conteúdo. A versão revisada foi posteriormente enviada por e-mail para todos os membros do Departamento Científico de DNM/ELA da Academia Brasileira de Neurologia e a versão final revisada foi submetida para publicação. A prevalência da síndrome pseudobulbar em pacientes com ELA em 15 estudos combinados com 3906 pacientes foi de 27,4% (n = 1070), variando entre 11,4% e 71%. Início bulbar é um fator de risco, mas há limitados estudos avaliando as diferenças em prevalência entre os diferentes subtipos de Doença do Neurônio Motor, incluindo pacientes com e sem Demência Frontotemporal. Antidepressivos e uma combinação de dextrometorfana e quinidina (indisponíveis no Brasil) são opções terapêuticas possíveis. Esse grupo de panelistas reconhece as múltiplas demandas não atendidas na literatura atual e reforça a necessidade de futuros estudos.

Bilateral Globus Pallidus Externus Deep Brain Stimulation for the Treatment of Refractory Tourette Syndrome: An Open Clinical Trial.

OBJECTIVES: We have previously proposed that Tourette syndrome (TS) is the clinical expression of the hyperactivity of globus pallidus externus (GPe) and various cortical areas. This study was designed to test this hypothesis by verifying the efficacy and safety of bilateral GPe deep brain stimulation (DBS) for treating refractory TS. MATERIALS AND METHODS: In this open clinical trial, 13 patients were operated on. Target coordinates (center of GPe) were obtained by direct visualization. Physiological mapping was performed with macrostimulation and microrecording. Primary and secondary outcome measures were, respectively, responder and improvement rates of TS and comorbidities, according to pre- and postoperative scores on the following assessment instruments: Yale Global Tic Severity Scale, Yale-Brown Obsessive Compulsive Scale, Beck Depression Inventory/Hamilton Depression Rating Scale, Beck Anxiety Inventory/Hamilton Anxiety Rating Scale, and Concentrated Attention test. RESULTS: Intraoperative stimulation (100 Hz/5.0V) did not produce any adverse effects or impact on tics. Microrecording revealed bursting cells discharging synchronously with tics in the central part of the dorsal half of GPe. Patients were followed up for a mean of 61.46±48.50 months. Responder rates were 76.9%, 75%, 71.4%, 71.4%, and 85.7%, respectively, for TS, obsessive-compulsive disorder (OCD), depression, anxiety, and attention deficit hyperactivity disorder. Mean improvements among responders in TS, OCD, depression, and anxiety were 77.4%, 74.7%, 89%, and 84.8%, respectively. After starting stimulation, tic improvement was usually delayed, taking up to ten days to manifest. Afterward, it increased over time, usually reaching its maximum at approximately one year postoperatively. The best stimulation parameters were 2.3V to 3.0V, 90 to 120 µsec, and 100 to 150 Hz, and the most effective contacts were the two dorsal ones. Two complications were registered: reversible impairment of previous depression and transient unilateral bradykinesia. CONCLUSIONS: Bilateral GPe-DBS proved to be low risk and quite effective for treating TS and comorbidities, ratifying the pathophysiological hypothesis that led to this study. Moreover, it compared favorably with DBS of other targets currently in use.

Incidência e sazonalidade de casos de Chikungunya no estado do Rio de Janeiro, 2017-2020 / Incidence and seasonality of chikungunya cases in the state of Rio de Janeiro, 2017-2020 / Incidencia y estacionalidad de casos de chikungunya en el estado de Rio de janeiro, 2017-2020

Objetivo: descrever a incidência e a sazonalidade de casos notificados no Sistema de Informação de Agravos de Notificação, no estado do Rio de Janeiro, no período de 2017 a 2020. Método: estudo ecológico descritivo, com análise de dados disponibilizados pelo Departamento de Informática do Sistema Único de Saúde. Resultados: foram notificados 156.579 casos no período; 5.970 em 2017; 45.429 em 2018; 99.436 em 2019; e 5.744 em 2020; quanto à sazonalidade, em 2017 destacaram-se os meses de maio a julho; em 2018 e 2019, os meses de abril a junho; e em 2020, o período de janeiro a março. Conclusão: faz-se necessária a intensificação de ações de vigilância nas regiões de maior incidência, direcionando as políticas de controle

Objective: describe the incidence and seasonality of cases reported in the notifiable diseases information system, in the state of Rio de Janeiro, from 2017 to 2020. Method: descriptive ecological study, with analysis of data provided by the Department of Informatics of the Unified Health System. Results: 156,579 cases were reported in the period; 5,970 in 2017; 45,429 in 2018; 99,436 in 2019; and 5,744 in 2020; as for seasonality, in 2017 the months from may to july stood out; in 2018 and 2019, the months from april to june; and in 2020, the period from january to march. Conclusion: it is necessary to intensify surveillance actions in regions with the highest incidence in order to direct control policies

Objetivos: describir la incidencia y la estacionalidad de los casos notificados en el sistema de información de enfermedades de declaración obligatoria, en el estado de Río de Janeiro, de 2017 a 2020. Método: estudio ecológico descriptivo, con análisis de datos proporcionados por el Departamento de Informática del Sistema Único de Salud. Resultados: 156.579 casos fueron notificados en el período; 5.970 en 2017; 45.429 en 2018; 99.436 en 2019; y 5.744 en 2020; en cuanto a la estacionalidad, en 2017 destacaron los meses de mayo a julio; en 2018 y 2019, los meses de abril a junio; y en 2020, el período de enero a marzo. Conclusión: es necesario intensificar las acciones de vigilancia en las regiones de mayor incidencia para orientar las políticas de control

Implicações do teletrabalho para o trabalhador no período pandêmico de covid-19 / Implications of teleworking for the worker in the pandemic covid-19 period / Consecuencias de telework para el trabajador en el período pandémico covid-19

Objetivo: identificar as implicações do teletrabalho para o trabalhador no período pandêmico de covid-19.Métodos: Trata-se de uma revisão integrativa de literatura com buscas nas bases de dados Web of Science, Scopus, Medline via pubmed, Lilacs, Scielo e Cumulative Index to Nursing and Allied Health Literature, utilizando os descritores teleworking, pandemics, occupational health com operador booleano AND. A busca foi realizada em agosto de 2022 e contou com os seguintes critérios de inclusão: textos no formato artigo científico com texto na íntegra, publicados no período pandêmico (2020 - 2022), em inglês, português e espanhol. Excluíram-se os artigos duplicados, pesquisas de revisão e artigos reflexivos. Resultados: Foram encontrados 134 artigos e após a aplicação dos critérios e avaliação do corpus textual, obtivemos uma amostra de 19 estudos. A análise se desdobrou na criação de 03 categorias, a citar: modificações no estilo de vida durante o trabalho remoto; implicações relacionadas à saúde mental e ao isolamento e implicações relacionadas ao processo de trabalho. O teletrabalho foi uma ferramenta valiosa porque proporcionou a continuidade e funcionamento das empresas durante a pandemia de Covid-19 uma vez que a saúde física e mental do trabalhador foi imensamente afetada. Conclusão: O teletrabalho mostrou- se uma importante modalidade de trabalho frente à pandemia de Covid-19. Apesar de ter sido uma ferramenta imprescindível para manutenção dos empregos e continuidade do funcionamento das empresas durante a pandemia, a saúde física e mental do trabalhador foi bastante afetada neste período.

Objective: To identify the implications of teleworking for the worker in the pandemic period of covid-19.Methods: This is an integrative literature review with searches in the Web of Science, Scopus, Medline via pubmed, Lilacs, Scielo and Cumulative Index to Nursing and Allied Health Literature databases, using the descriptors teleworking, pandemics, occupational health with boolean operator AND. The search was carried out in August 2022 and had the following inclusion criteria: texts in the format of scientific article with full text, published in the pandemic period (2020 - 2022), in English, Portuguese and Spanish. Duplicate articles, review research, and reflective articles were excluded. Results: We found 134 articles and after applying the criteria and evaluation of the textual corpus, we obtained a sample of 19 studies. The analysis unfolded in the creation of 03 categories, to mention: changes in lifestyle during remote work; implications related to mental health and isolation and implications related to the work process. Teleworking was a valuable tool because it provided business continuity and operation during the COVID-19 pandemic as the worker's physical and mental health was greatly affected. Conclusion: Teleworking proved to be an important way of working against the COVID-19 pandemic. Although it was an indispensable tool for maintaining jobs and continuing the functioning of companies during the pandemic, the physical and mental health of the worker was greatly affected in this period.

Propósito: identificar las implicaciones del teletrabajo para los trabajadores en el periodo pandémico de covid-19.Métodos: Se trata de una revisión integrada de la literatura con búsquedas en la Web de Ciencia, Scopus, Medline via pubmed, Lilacs, Scielo y el Índice Acumulativo a las bases de datos de Enfermería y Literatura de Salud Aliada, utilizando los descriptores teletrabajo, las pandemias, la salud ocupacional con operador Y. La búsqueda se llevó a cabo en agosto de 2022 y pudo contar con los siguientes criterios de inclusión: textos en formato de artículo científico con texto completo, publicados en el período de la pandemia (2020-2022), en español, portugués e inglés. Se excluyeron artículos duplicados, encuestas de revisión y artículos reflexivos. Resultados: se encontraron 134 artículos, y tras la aplicación de los criterios de valoración del corpus textual, se obtuvo una muestra de 19 estudios. El análisis ha dado lugar a la creación de 30 categorías, por citar: cambios en el estilo de vida durante el trabajo a distancia; consecuencias relacionadas con la salud mental y el aislamiento y consecuencias relacionadas con el proceso de trabajo. El teletrabajo era un instrumento valioso porque ofrecía continuidad y funcionamiento de las operaciones durante la pandemia del Covid-19, ya que la salud física y mental del trabajador se veía inmensamente afectada. Conclusión: el teletrabajo ha demostrado ser una importante modalidad de trabajo frente a la pandemia del Covid-19. Aunque fue un instrumento indispensable para mantener el empleo y continuar el funcionamiento de las empresas durante la pandemia, la salud física y mental del trabajador se ha visto muy afectada en este período.

Guidelines for Parkinson's disease treatment: consensus from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology - motor symptoms.

The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.

Guidelines for Parkinson's disease treatment: consensus from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology - motor symptoms / Diretrizes para o tratamento da doença de Parkinson: consenso do Departamento Científico de Transtornos do Movimento da Academia Brasileira de Neurologia - sintomas motores

ABSTRACT The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.

Resumo O tratamento da doença de Parkinson (DP) constitui um desafio, especialmente por ser considerado muito individualizado. A Academia Brasileira de Neurologia (ABN) identificou a necessidade de disseminar o conhecimento sobre o manejo do tratamento da DP, adaptando as melhores evidências à realidade brasileira. Assim, foi realizada uma revisão sobre as principais orientações de tratamento publicadas, baseada nas recomendações elaboradas por um grupo de especialistas em transtornos do movimento do departamento científico da ABN.

Induction of Ticlike Involuntary Movements in Rats by Striatotomy and Subsequent Neurochemical Sensitization.

OBJECTIVE: It has been proposed that Tourette syndrome is associated with dysfunction in widespread cortical areas and globus pallidus externus hyperactivity secondary to dopaminergic hyperactivity and serotonergic/dynorphinergic hypoactivity. The main objective of this study was to test this hypothesis by developing an animal model of Tourette syndrome via striatotomy, followed by administration of drugs that mimic the neurotransmitter environment, so as to induce globus pallidus externus hyperactivity. METHODS: Rats were assigned to 3 groups: stereotactic striatotomy (STT) and striatal sham -lesion (SHAM) groups, treated with anterior and posterior striatum procedures in both hemispheres, and a group of nonoperated animals (NAIVE). Postoperatively, all rodents were blindly administered 3 drug protocols: levodopa/benserazide; levodopa/benserazide/ergotamine/naloxone (MIX); and saline. The animals were filmed at the peak action of these drugs. The videos were evaluated by a single blinded researcher. RESULTS: Six types of involuntary movements (IMs) were observed: cephalic, trunk jerks, oromandibular, forepaw jerks, dystonic, and locomotive. The number of animals with IM and the mean number of IM after both levodopa/benserazide and MIX was significantly higher in the STT compared with the SHAM and NAIVE groups. In the SHAM and NAIVE, MIX was superior to levodopa/benserazide in the induction of IM. In the STT, MIX was superior to levodopa/benserazide in the induction of trunk jerks. Appendicular IM were more common after posterior than after anterior striatotomy. CONCLUSIONS: These results show that striatotomy, followed by administration of levodopa/benserazide alone or associated with ergotamine and naloxone, is efficacious in inducing IM, supporting the hypothesis that led to this study.

Toll-like receptor 10 controls TLR2-induced cytokine production in monocytes from patients with Parkinson's disease.

Peripheral inflammation, particularly mediated by monocytes, can cause neuroinflammation in Parkinson's disease (PD). We investigated the mechanism of TLR2-induced cytokine impairment in peripheral monocytes from PD patients and the association between the presence of CD14+ TLR10+ monocytes and PD severity. Peripheral blood mononuclear cells from PD patients and healthy individuals were evaluated for TLR expression on monocyte subsets (CD14 and CD16 expression) using flow cytometry. Moreover, cytokines were evaluated using flow cytometry after stimulation with Pam3 Cys (TLR2/TLR1 agonist) in the absence or presence of neutralizing antibodies to TLR10. The severity of PD was assessed using the unified PD rating scale (UPDRS) and motor activity, anxiety (BAI), depression (BDI), and fatigue (PD Fatigue Scale-16) scales. The frequency of CD14+ TLR10+ monocytes and expression intensity of TLR2 and TLR10 were higher in patients with PD than healthy individuals. The frequency of intermediate monocytes (CD14++ CD16+ ) was not significantly increased in patients with PD, but was the main monocyte subset expressing TLR10. The TLR2/TLR1-impaired cytokine production (IL-6, TNFα, IL-8, and IL-10) in PD patients was reversed by neutralizing TLR10. The high frequency of total CD14+ TLR10+ monocytes was associated with a reduction in the severity of PD according to the evaluation of motor and nonmotor symptoms. Peripheral monocytes from patients with PD showed phenotypic and functional alterations. The expression of TLR10 on monocytes can protect against PD by controlling TLR2-induced cytokine production. Furthermore, data suggested that a low frequency of CD14+ TLR10+ monocytes indicates the severity of PD. The results identified new opportunities for the development of novel PD neuroprotective therapies.

Acesso de trabalhadores de um território aos serviços ofertados pela unidade básica de saúde / Access of workers of a territory to the services offered by the basic health unit / Acceso de los trabajadores de un territorio a los servicios ofrecidos por la unidad básica de salud

Objetivo: analisar as condições do acesso de trabalhadores terceirizados às atividades de saúde realizadas em uma Unidade Básica de Saúde em seu território de abrangência. Método: estudo de natureza descritiva e qualitativa, com coleta de dados realizada por meio de entrevistas semi-estruturadas com 15 trabalhadores, no segundo semestre de 2018, após autorização do comitê de ética em pesquisa. A análise foi realizada a partir do referencial teórico-conceitual da análise de conteúdo temático-categorial. Resultados: após análise, emergiram duas categorias temáticas, a citar: Entraves na absorção de trabalhadores do território nas unidades básicas de saúde e Estratégias para a busca de serviços de saúde: serviços particulares e emergências como porta de entrada. Conclusão: percebeu-se que os participantes enfrentam grandes desafios para alcançar a porta de entrada do SUS, sobretudo, devido a inabilidade dos serviços de saúde no atendimento a indivíduos trabalhadores inseridos no território de responsabilidade sanitária.

Objective: to analyze the conditions of outsourced workers' access to health activities carried out in a Basic Health Unit in their territory. Method: descriptive qualitative study, with Data collection was carried out through semi-structured interviews with 15 workers in the second half of 2018, after research ethics committee approval. Analysis was performed from the theoretical-conceptual framework of thematic-categorical content analysis. Results: After analysis, two thematic categories emerged: Barriers in the absorption of workers from the territory in health units and Strategies for the search for health services: private services and emergencies as a gateway. Conclusion: It was noticed that the participants face major challenges to reach the gateway of SUS, especially due to the inability of health services in the care of working individuals inserted in the territory of health responsibility.

Objetivo: Analizar las condiciones de acceso de los trabajadores subcontratados a actividades de salud realizadas en una Unidad Básica de Salud en su territorio. Método: Estudio descriptivo cualitativo. La recolección de datos se realizó a través de entrevistas semiestructuradas con 15 trabajadores en la segunda mitad de 2018. El análisis se realizó desde el marco teórico-conceptual del análisis de contenido temático-categórico. Resultados: El análisis surgió para la construcción de dos categorías temáticas, a saber: Barreras en la absorción de trabajadores del territorio en unidades de salud y Estrategias para la búsqueda de servicios de salud: servicios privados y emergencias como puerta de entrada. Conclusión: Se observó que los participantes enfrentan grandes desafíos para llegar a la puerta de entrada del SUS, especialmente debido a la incapacidad de los servicios de salud en el cuidado de las personas que trabajan insertadas en el territorio de responsabilidad de salud.

Estratégias protetivas, administrativas e ambientais para a saúde dos trabalhadores durante a pandemia / Estrategias de protección, administrativas y ambientales para la salud de los trabajadores durante la pandemia / Protective, administrative and environmental strategies for workers' health during the pandemic

Objetivo: identificar publicações com indicativos de enfrentamento que enfatizem as estratégias protetivas, administrativas e ambientais descritas na literatura científica utilizadas para a prevenção e controle da infecção pelo novo Coronavírus, em trabalhadores da saúde. Método: revisão integrativa de literatura realizada em junho de 2020 em sete bases de dados da área da saúde. Utilizou-se como descritores: "Health Personnel", "Covid-19", "Decision Making, Organizational", "Containment of Biohazards", "Personal Protective Equipment" "Risk Management". Resultados: amostra de 13 artigos, os quais observou-se a todas estratégias preconizadas pela Organização Mundial de Saúde no enfrentamento às doenças de contexto pandêmico. Conclusões: a associação de estratégias não foi recorrente. A gravidade situação se desdobrou como terreno fértil para a construção de experiências inovadoras e colaborativas.(AU)

Objective: to identify publications with coping indications that emphasize the protective, administrative and environmental strategies described in the scientific literature used for the prevention and control of infection by the new coronavirus, in health workers. Method: integrative literature review carried out in June 2020 in seven health databases. It was used as descriptors: "Health Personnel", "Covid-19", "Decision Making, Organizational", "Containment of Biohazards", "Personal Protective Equipment" "Risk Management". Results: 13 articles, which observed all strategies recommended by the World Health Organization coping with pandemic diseases Conclusions: the association of strategies was not recurrent. The seriousness of the situation has unfolded as a fertile ground for the construction of innovative and collaborative experiences.(AU)

Objetivo: identificar publicaciones con indicaciones de afrontamiento que enfaticen las estrategias protectoras, administrativas y ambientales descritas en la literatura científica utilizada para la prevención y control de la infección por el nuevo coronavirus, en trabajadores de salud. Método: revisión integradora de la literatura realizada en junio de 2020 en siete bases de datos de salud. Se utilizaron los siguientes descriptores: "Health Personnel", "Covid-19", "Decision Making, Organizational", "Containment of Biohazards", "Personal Protective Equipment" "Risk Management". Resultados: muestra de 13 artículos, que observaron todas las estrategias recomendadas por la Organización Mundial de la Salud para hacer frente a las enfermedades en un contexto pandémico. Conclusiones: la asociación de estrategias no fue recurrente. La gravedad de la situación se ha desplegado como un terreno fértil para la construcción de experiencias innovadoras y colaborativas.(AU)

Prevalence of multiple sclerosis in Goiânia, Goiás, Brazil.

OBJECTIVE: Multiple sclerosis (MS) prevalence, in some cities in Brazil, was estimated and was found to range from 0.75 to 30.7/100,000. The reasons for such a large variation in rates of prevalence are not clear, but environment and genetics help to explain this phenomenon. METHODS: A cross-sectional study using three sources of case ascertainment to estimate the prevalence of MS in the city of Goiânia in December, 2015. RESULTS: A total of 318 MS patients was found after removing overlapping sources. The prevalence of MS was 22.4/100,000 population. CONCLUSION: Our study was the first in Goiás and the third in the midwest region, and we found a great increase in the prevalence of MS in the region. It is necessary to perform other studies using the same methodology for a more accurate evaluation of the true prevalence of MS in Brazil.

Prevalence of multiple sclerosis in Goiânia, Goiás, Brazil / Prevalência de esclerose múltipla em Goiânia, Goiás, Brasil

ABSTRACT Multiple sclerosis (MS) prevalence, in some cities in Brazil, was estimated and was found to range from 0.75 to 30.7/100,000. The reasons for such a large variation in rates of prevalence are not clear, but environment and genetics help to explain this phenomenon. Methods: A cross-sectional study using three sources of case ascertainment to estimate the prevalence of MS in the city of Goiânia in December, 2015. Results: A total of 318 MS patients was found after removing overlapping sources. The prevalence of MS was 22.4/100,000 population. Conclusion: Our study was the first in Goiás and the third in the midwest region, and we found a great increase in the prevalence of MS in the region. It is necessary to perform other studies using the same methodology for a more accurate evaluation of the true prevalence of MS in Brazil.

RESUMO A prevalência de esclerose múltipla (EM) no Brasil foi estimada em algumas cidades e foi encontrada entre 0,75 e 30,7 / 100.000. As razões para tal grande variação nas taxas de prevalência não são claras, mas existem aspectos ambientais e genéticos para explicar esse fenômeno. Métodos: Foram utilizadas três fontes de averiguação de casos para estimar a prevalência de esclerose múltipla (EM) no município de Goiânia em dezembro de 2015. Resultados: Foram encontrados 318 casos de EM, retirando as sobreposições de fontes. A prevalência foi de 22,4 / 100.000. Conclusão: Nosso estudo foi o primeiro em Goiás e o terceiro na Região Centro-Oeste, e encontrou um grande aumento na prevalência de EM na região. É necessário realizar outros estudos utilizando a mesma metodologia para uma melhor avaliação da real prevalência da EM no Brasil.

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

Robust evidence on the involvement of genetic factors in the etiology of Parkinson's disease (PD) expands our knowledge about monogenic causes that contribute for this important neurodegenerative disorder. Mutations in the CHCHD2 gene have been linked to autosomal dominant forms of PD, although there is still lack of evidence for CHCHD2 variants leading to the disease in mixed populations as those from South America. To assess the contribution of CHCHD2 as a causal factor for familial PD in Brazil, one of the most heterogeneous populations in the world, we conducted the first molecular analysis of the CHCHD2 gene in a cohort of 122 index cases from Brazilian families with autosomal dominant forms of PD. Genomic DNA was isolated from peripheral blood and the 4 exons of the CHCHD2 gene, and their intron-exon boundaries were analyzed by bidirectional Sanger sequencing. No pathogenic or risk variants were found, suggesting that genetic variants of CHCHD2 are not a common cause of familial PD in Brazilian patients.

Oral health knowledge of parents of children and adolescents with congenital heart disease / Conhecimento dos pais de crianças e adolescentes com cardiopatia congênita sobre saúde oral

ABSTRACT Objective: To assess the knowledge on oral hygiene, infective endocarditis, and antibiotic prophylaxis of parents of children and adolescents with heart diseases assisted at the Hospital Ana Nery (reference hospital), Salvador, Bahia, Brazil. Methods: Cross-sectional study with 43 guardians of children and adolescents aged 2 through 16 years, performed with the application of a questionnaire. Results: In the sample of parents studied, 64% had completed high school and 47% had a monthly family income of up to one minimum wage. The majority (81%) reported knowing that oral infections may lead to heart complications, 42% knew that oralbacteria may migrate to the heart, and 51% knew the term infective endocarditis. When questioned about antibiotic prophylaxis, 93% had no knowledge about it and 88% did not know the reasons for using antibiotics before dental treatment. Conclusion: Parental knowledge was limited and fragmented. Further attention is required when transmitting information to parents, focusing on prevention strategies in order to guarantee the integral health of these children and adolescents.

RESUMO Objetivo: Avaliar o conhecimento sobre higiene bucal, endocardite infecciosa, e profilaxia antibiótica dos pais de crianças e adolescentes com cardiopatia congênita assistidas no Hospital Ana Nery, Salvador, Bahia. Métodos: Estudo transversal envolvendo 43 responsáveis de crianças e adolescentes de 2 a 16 anos, realizado através da aplicação de questionário. Resultados: Na amostra de pais estudada, 64% possuíam ensino médio completo e 47% tinham como renda familiar até um salário mínimo. A maioria (81%) afirmou ter conhecimento que infecções bucais podem levar a complicações cardíacas, 42% sabiam que bactérias da boca podem ir para o coração e 51 % conheciam o termo endocardite infecciosa. Quando questionados o que é profilaxia antibiótica, 93% não sabiam o que é e 88% desconheciam os motivos que levavam a necessidade do uso de antibióticos anteriormente a procedimentos odontológicos. Conclusão: O conhecimento dos pais mostrou-se limitado e fragmentado. É necessária maior atenção na transmissão da informação aos mesmos, focando em estratégias de prevenção a fim de garantir a saúde integral destas crianças e adolescentes.

Music Therapy Reduces Radiotherapy-Induced Fatigue in Patients With Breast or Gynecological Cancer: A Randomized Trial.

PURPOSE: To investigate the influence of music therapy on the reduction of fatigue in women with breast or gynecological malignant neoplasia during radiotherapy, since it is one of the most frequent side effects of this type of treatment, and may interfere with self-esteem, social activities, and quality of life. EXPERIMENTAL DESIGN: Randomized controlled trial (control group [CG] and music therapy group [MTG]) to assess fatigue, quality of life, and symptoms of depression in women undergoing radiotherapy using the Functional Assessment of Cancer Therapy: Fatigue (FACT-F) version 4, Functional Assessment of Cancer Therapy-General (FACT-G) version 4, and Beck Depression Inventory in 3 separate times, namely, during the first week of radiotherapy, on the week of the intermediary phase, and during the last week of radiotherapy. Individual 30- to 40-minute sessions of music therapy with the presence of a trained music therapist were offered to participants. RESULTS: In this study, 164 women were randomized and 116 (63 CG and 53 MTG) were included in the analyses, with mean age of 52.90 years (CG) and 51.85 years (MTG). Participants in the MTG had an average of 10 music therapy sessions, totaling 509 sessions throughout the study. FACT-F results were significant regarding Trial Outcome Index ( P = .011), FACT-G ( P = .005), and FACT-F ( P = .001) for the MTG compared with the CG. CONCLUSIONS: Individual music therapy sessions may be effective to reduce fatigue related to cancer and symptoms of depression, as well as to improve quality of life for women with breast or gynecological cancer undergoing radiotherapy. Further well-designed research studies are needed to adequately determine the effects of music therapy on fatigue.

TLR4 and TLR2 activation is differentially associated with age during Parkinson's disease.

Parkinson's disease (PD) is an age-related neurodegenerative disease characterized by loss of dopaminergic neurons associated with neuroinflammation. Toll-like receptors (TLRs) are expressed in peripheral blood leukocytes and also in neurons and glial cells mediating inflammation. This study aimed to investigate the peripheral blood leukocyte response to TLR2 and TLR4 agonists in young and elderly PD patients. Two groups of patients with PD were evaluated (≤ 55 years old and ≥ 65 years old), age-matched with healthy controls (n = 26). Severity of PD was evaluated by Unified Parkinson's Disease Rating Scale (UPDRS). Whole blood cultures were stimulated with lipopolysaccharide (LPS), a TLR4 agonist or Pam3Cys (Pam), a TLR2 agonist. Tumor necrosis factor alpha (TNFα) and interleukin 10 (IL-10) were measured by immunoenzimatic assay. 6 h-TNFα production was increased after TLR4 stimulation, mainly in young PD patients, whereas TLR2-induced TNFα and IL-10 levels were decreased in PD patients independent of age (p < 0.05). A reverse correlation between LPS-induced TNFα production and age was observed in PD patients and controls, but TNFα induced by TLR2 agonist was not associated with age of PD patients or controls. TNFα production induced by TLR4 but not by TLR2 was reversely associated with the age at PD onset and disease duration. No associations between UPDRS scores and cytokine levels were detected. In conclusion, TLR4 and TLR2 responses seem to be differentially affected during PD. Data suggest that TLR2 deficiency in periphery is independent of age of the patients, age at PD onset, or PD duration.

Cognitive evaluation of patients with glaucoma and its comparison with individuals with Alzheimer's disease.

PURPOSE: To evaluate the cognitive performance of patients with glaucoma and compare it to individuals with Alzheimer's disease (AD). METHODS: This is a prospective, cross-sectional and case-control study. All subjects were assessed using the Mini-Mental State Examination (MMSE) and its subtests verbal fluency, word list memory, delayed recall of the word list, word list recognition test, Boston naming and constructive praxis from Consortium to Establish a Registry for Alzheimer's Disease (CERAD). The results were compared among the groups. RESULTS: A total of 50 healthy elderly with a mean age of 71.2 ± 5.2 years; 41 patients with glaucoma (72.2 ± 4.4 years); and 21 patients with AD (79.0 ± 7.6 years) were included. There was a reduction in all cognitive assessment tests evaluated, both for patients with glaucoma, and for those with AD compared with controls (p < 0.001 for all). Comparing the patients with glaucoma and AD, it was noted that the last had lower cognitive function (p < 0.001), except for the CERAD tests Boston (p = 0.1) and praxis (p = 0.6). Glaucoma patients, however, presented results of cognitive tests similar to those described for patients with mild AD, including lower values for MMSE (21.9 ± 3.7), Boston (10.6 ± 2.6) and praxis (5.9 ± 2.3). CONCLUSION: Glaucoma patients had reduction in cognition when compared to normal individuals. They were similar to the values reported in the literature for patients with mild AD, mostly, and also in some subjects with the presence of advanced AD.