118 research outputs found

    Complicações neurológicas associadas ao SARS-CoV-2 (COVID-19) no Brasil: Organização do grupo NEUROCOVID-RIO e achados preliminares

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    We live in moments of uncertainty due to the serious pandemic promoted by the Sars-CoV-2 virus. Furthermore, in our country, other viruses are there, such as H1N1, Dengue, Zika, Chikungunya, Measles, Yellow Fever, which often leave us perplexed by the differential diagnosis of different neurological syndromes that may, eventually, be associated. We created the NEUROCOVID-RIO Group comprising currently 44 health experts from several areas of the neurological sciences from different hospitals and laboratories from various institutions, including public and private universities. A database in which mathematical instruments are applied, including artificial intelligence, was organized. Preliminary findings show that well defined neurological syndromes seems to be more associated to Zika and Chikungunia viruses than with Sars-Cov-2

    Familial Amyloid Polyneuropathy: A Proposal for an Epidemiological Study Through the Creation of a Virtual Platform

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    Amyloidosis are characterized by mutations in the gene coding for transthyretin (TTR), located on chromosome 18. TTR is a set of four 127-aminoacid polypeptides structured as homotetrameric protein of 56 kDa with a secondary ß sheet structure. It plays the role of thyroxin (T4) carrier, and has a bindingdomain for retinol (vitamin A). It is synthesized in the liver, although a small quantity is also produced by the choroid plexus, and retinal cells. Mutations of this gene result in loss of tetramer stability. Insoluble amyloid fibrils (AF) are formed and deposited in tissues and organs. The abnormal aggregation ofTTR protein trigger several syndromes, such as familial amyloid polyneuropathy (FAP-TTR), cardiomyopathies (CMP), and senile systemic amyloidosis (SSA). It is estimated there are 5,000 to 10,000 cases of FAP-TTR globally. Objective: The study intends to develop an online platform for the diagnosis of FAP-TTR. The aim is to facilitate the diagnosis process and promote a tool for epidemiological study.Methods: The project was based on a literature review featuring clinical and epidemiological evidence for the development of a practical platform (applied research). Results: It was elaborated a platform containing a questionnaireto allow a more dynamic, cheaper, and efficient operation, mediated by a better characterization of the disease to enable its early diagnosis. Conclusion: The platform might become a valuable resource for the characterization, diagnosis, and future epidemiological study of FAP-TTR

    Neuroartropatia de Charcot secundária à siringomielia: relato de caso

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    A neuroartropatia de Charcot é uma das complicações da siringomielia, podendo ocasionar deformidades osteoarticulares e incapacidade funcional, com comprometimento das atividades da vida diária. Relatamos um caso de paciente com neuroartropatia de Charcot do ombro associada a siringomielia e malformação de Arnold-Chiari tipo I, acompanhado no Instituto Nacional de Traumatologia e Ortopedia do Rio de Janeiro, RJ, Brasi

    Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

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    Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme (R)). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in Sao Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.Inst Fernandes Figueira FIOCRUZ, Dept Med Genet, Rio De Janeiro, RJ, BrazilUniv Fed Fluminense, Dept Neurol & NeuroUPC, BR-22031171 Rio De Janeiro, RJ, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilUniv Fed Rio Grande do Norte, Dept Neurol, Caiaco, RN, BrazilClin Marrone, Porto Alegre, RS, BrazilUniv Cuiaba, Dept Neurol, Cuiaba, MT, BrazilUniv Sao Paulo, Dept Neurociencias, BR-14049 Ribeirao Preto, SP, BrazilHosp Base Dist Fed, Serv Neurol, Brasilia, DF, BrazilUniv Fed Parana, Serv Doencas Neuromusculares, BR-80060000 Curitiba, Parana, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilWeb of Scienc

    Currents issues in cardiorespiratory care of patients with post-polio syndrome

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    Post-polio syndrome (PPS) is a condition that affects polio survivors years after recovery from an initial acute attack of the poliomyelitis virus. Most often, polio survivors experience a gradual new weakening in muscles that were previously affected by the polio infection. The actual incidence of cardiovascular diseases (CVDs) in individuals suffering from PPS is not known. However, there is a reason to suspect that individuals with PPS might be at increased risk. Method: A search for papers was made in the databases Bireme, Scielo and Pubmed with the following keywords: post polio syndrome, cardiorespiratory and rehabilitation in English, French and Spanish languages. Although we targeted only seek current studies on the topic in question, only the relevant (double-blind, randomized-controlled and consensus articles) were considered. Results and Discussion: Certain features of PPS such as generalized fatigue, generalized and specific muscle weakness, joint and/or muscle pain may result in physical inactivity deconditioning obesity and dyslipidemia. Respiratory difficulties are common and may result in hypoxemia. Conclusion: Only when evaluated and treated promptly, somE patients can obtain the full benefits of the use of respiratory muscles aids as far as quality of life is concerned.Ctr Univ Augusto Motta, Programa Posgrad Ciencias Reabilitacao, Rio De Janeiro, RJ, BrazilUniv Severino Sombra, Fac Med, Vassouras, RJ, BrazilUniv Fed Rio de Janeiro, Inst Psiquiatria, Lab Mapeamento Cerebral & EEG, BR-22290140 Rio De Janeiro, RJ, BrazilUniv Fed Fluminense, Hosp Univ Antonio Pedro, Niteroi, RJ, BrazilInst Fed Educ Ciencia & Tecnol Rio de Janeiro, Curso Fisioterapia, Rio De Janeiro, RJ, BrazilUniv Fed Piaui, Parnaiba, PI, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilWeb of Scienc

    Revisiting the term neuroprotection in chronic and degenerative diseases

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    Thanks to the development of several new researches, the lifetime presented a significant increase, even so, we still have many obstacles to overcome - among them, manage and get responses regarding neurodegenerative diseases. Where we are in the understanding of neuroprotection? Do we really have protective therapies for diseases considered degeneratives such as amyotrophic lateral sclerosis and its variants, Parkinson's disease, Alzheimer's disease and many others? Neuroprotection is defined by many researches as interactions and interventions that can slow down or even inhibit the progression of neuronal degeneration process. We make some considerations on this neuroprotective effect.Department of Neurology, Antonio Pedro University Hospital, Fluminense Federal University , NiteróiNeurology Service, Nova Iguaçu Hospital , PosseBrain Mapping Laboratory and Electroencephalogram, Federal University of Rio de JaneiroBrain Mapping and Functionality Laboratory, Federal University of PiauíSeverino Sombra University Center, School of Medicine , VassourasDepartment of Neurology, Federal University of São Paulo , BrazilDepartment of Neurology, Federal University of São Paulo , BrazilWeb of Scienc

    Currents issues in cardiorespiratory care of patients with post-polio syndrome

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    ABSTRACT Post-polio syndrome (PPS) is a condition that affects polio survivors years after recovery from an initial acute attack of the poliomyelitis virus. Most often, polio survivors experience a gradual new weakening in muscles that were previously affected by the polio infection. The actual incidence of cardiovascular diseases (CVDs) in individuals suffering from PPS is not known. However, there is a reason to suspect that individuals with PPS might be at increased risk. Method A search for papers was made in the databases Bireme, Scielo and Pubmed with the following keywords: post polio syndrome, cardiorespiratory and rehabilitation in English, French and Spanish languages. Although we targeted only seek current studies on the topic in question, only the relevant (double-blind, randomized-controlled and consensus articles) were considered. Results and Discussion Certain features of PPS such as generalized fatigue, generalized and specific muscle weakness, joint and/or muscle pain may result in physical inactivity deconditioning obesity and dyslipidemia. Respiratory difficulties are common and may result in hypoxemia. Conclusion Only when evaluated and treated promptly, somE patients can obtain the full benefits of the use of respiratory muscles aids as far as quality of life is concerned
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