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Antonio Lucio Teixeira Juniorhttp://lattes.cnpq.br/2302805234722051Paulo Pereira ChristoPaula Luciana Scalzohttp://lattes.cnpq.br/3512252420123369Daiane Magalhaes2020-06-18T19:08:49Z2020-06-18T19:08:49Z2019-05-16http://hdl.handle.net/1843/33629Introdução: A doença de Fabry (DF) é uma importante causa de doença cerebrovascular em jovens (<55 anos), sendo responsável por cerca de 1 a 4% dos acidentes vasculares cerebrais (AVC) criptogênicos detectados nesta faixa etária. Objetivos: O objetivo geral do estudo consiste em estabelecer a frequência e as características clínicas dos pacientes com e sem redução enzimática da α- galactosidase A em pacientes entre 18 e 55 anos internados com AVC isquêmico (AVCi), em um hospital de referência em Belo Horizonte, Brasil. Métodos: O estudo foi desenvolvido no Hospital Risoleta Tolentino Neves, sediado em Belo Horizonte, estado de Minas Gerais, Brasil, entre março e setembro de 2018. Compreende um estudo transversal, observacional, no qual foram selecionados pacientes admitidos no serviço de neurologia do hospital citado com diagnóstico de acidente vascular cerebral isquêmico (AVCi), e idade entre 18 e 55 anos. Estes pacientes foram submetidos à mensuração da atividade da α-galactosidase A, com o direcionamento dos pacientes que apresentassem a atividade dessa enzima reduzida para o teste genético. Os pacientes também foram avaliados quanto as características demográficas, exame neurológico, classificação etiológica do AVCi e propedêutica complementar. Resultados: No período do estudo, 342 pacientes foram admitidos no Hospital Risoleta Tolentino Neves com o diagnóstico de AVC. Desse total, 74 pacientes jovens acometidos por AVCi foram incluídos no estudo. Destes, onze apresentaram redução da atividade da enzima α- galactosidase A, e dez algum polimorfismo genético não típico da DF. Dentre os fatores de risco para o AVCi identificados nessa população, foram predominantes: sedentarismo (85,1%), hipertensão arterial (60,8%), etilismo (39,2%) e tabagismo (39,2%). Ao ecocardiograma, a média da fração de ejeção do ventrículo esquerdo foi de 59,7% (DP ± 14,91), com tendência em ser inferior na população com redução da atividade da enzima α- !8 galactosidase A (p= 0,054). O grupo com redução da atividade enzimática também apresentou maior incidência de hipocinesia de segmento ventricular (p= 0,032, RR 1,50, IC 0,90 a 2,50). Conclusão: Os fatores de risco relacionados à ocorrência de AVC em jovens foram similares aos descritos na população idosa. A frequência de polimorfismos do gene da α-galactosidase A foi elevada, e apesar de não ter sido encontrada nenhuma mutação patogênica já reconhecida, estão associados a redução da atividade enzimática e piores desfechos neurológicos em alguns pacientes.Introduction: Fabry disease (FD) is an important cause of cerebrovascular disease in young people (<55 years), accounting for about 1 to 4% of the cryptogenic strokes detected in this age group. Objectives: The general objective of the study is to define the frequency and clinical characteristics of patients with enzymatic reduction of α-galactosidase A in patients between 18 and 55 years admitted with ischemic stroke, in a stroke center in Belo Horizonte, Brazil. Methods: The study was developed at Risoleta Tolentino Neves Hospital, located in Belo Horizonte, state of Minas Gerais, Brazil, between March and September 2018. It comprises a cross-sectional, observational study in which patients admitted to the neurology service of the mentioned hospital with a diagnosis of ischemic stroke and age between 18 and 55 years were selected. These patients were submitted to the measurement of α-galactosidase A activity, with the targeting of the patients who presented the activity of this reduced enzyme to the genetic test. Patients were also evaluated for demographic characteristics, neurological examination, etiological classification of stroke and diagnostic tests. Results: During the study period, 342 patients were admitted to the Risoleta Tolentino Neves Hospital with a diagnosis of stroke. Of this total, 74 young patients affected by stroke were included in the study. Of these, eleven showed reduced activity of the enzyme α-galactosidase A, and ten some genetic polymorphism not typical of FD. Among the risk factors for stroke identified in this population, the following were prevalent: sedentary lifestyle (85.1%), elevated blood pressure (60.8%), alcoholism (39.2%) and smoking (39.2%). On echocardiogram, the mean left ventricular ejection fraction was 59.7% (SD ± 14.91), with a tendency to be lower in the population with reduced activity of the enzyme α-galactosidase A (p = 0.054). The group with reduced enzyme activity also had a higher incidence of ventricular segment hypokinesia (p = 0.032, RR 1.50, CI 0.90 to 2.50). Conclusion: Risk factors related to the occurrence of stroke in young adults were similar to those described in the elderly population. The frequency of α-galactosidase A gene polymorphisms has been high, and although no known pathogen mutation has been found, there is a reduction in enzyme activity and worse neurological outcomes in some patients.FAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas GeraisporUniversidade Federal de Minas GeraisPrograma de Pós-Graduação em NeurociênciasUFMGBrasilICB - INSTITUTO DE CIÊNCIAS BIOLOGICAShttp://creativecommons.org/licenses/by-nd/3.0/pt/info:eu-repo/semantics/openAccessNeurociênciaAcidente Vascular CerebralIsquemiaDoença de Fabryalfa- Galactosidaseacidente vascular cerebralacidente vascular cerebral isquêmicodoença de Fabryenzima α- galactosidase AEstudo da frequência e das características do Acidente Vascular Cerebral Isquêmico (AVCI) em jovens, com e sem redução da atividade enzimática da α - galactosidase A, de um hospital de referência de Belo Horizonte, Brasilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisreponame:Repositório Institucional da UFMGinstname:Universidade Federal de Minas Gerais (UFMG)instacron:UFMGORIGINALTese Mestrado Daiane M_ALT final pdf.pdfTese Mestrado Daiane M_ALT final pdf.pdfapplication/pdf6179262https://repositorio.ufmg.br/bitstream/1843/33629/1/Tese%20Mestrado%20Daiane%20M_ALT%20final%20pdf.pdf65b163678ae9e0dca2d895f4d063611bMD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8805https://repositorio.ufmg.br/bitstream/1843/33629/2/license_rdf00e5e6a57d5512d202d12cb48704dfd6MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-82119https://repositorio.ufmg.br/bitstream/1843/33629/3/license.txt34badce4be7e31e3adb4575ae96af679MD531843/336292020-06-18 16:08:49.661oai:repositorio.ufmg.br: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Repositório InstitucionalPUBhttps://repositorio.ufmg.br/oaiopendoar:2020-06-18T19:08:49Repositório Institucional da UFMG - Universidade Federal de Minas Gerais (UFMG)false
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