A síndrome de tremor e ataxia associada ao X frágil (FXTAS)

FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.A FXTAS (síndrome de tremor e ataxia associada ao X frágil) é uma doença neurodegenerativa de início tardio que afeta principalmente homens acima dos 50 anos de idade, portadores de pré-mutação do gene FMR1. A mutação completa desse gene é responsável pela síndrome do cromossomo X frágil (SXF), a causa mais comum de deficiência mental herdada. Indivíduos afetados pela FXTAS geralmente apresentam tremor de intenção e ataxia de marcha que podem estar associados a sinais radiológicos ou neuropatológicos específicos. Outras características comumente observadas são parkinsonismo, declínio cognitivo, neuropatia periférica e disfunções autonômicas. Quase uma década após sua caracterização clínica, a FXTAS é mal conhecida por médicos no Brasil. Esta revisão apresenta o conhecimento atual sobre os aspectos clínicos, genéticos e diagnósticos da síndrome.FAPESP - Center for the Study of Human Genom

Educomunicação em Tempos de Pandemia:

Os textos que compõem esta obra são oriundos do VIII Colóquio Ibero-americano de Educomunicação (VIII CIEducom) e IX Colóquio Catarinense de Educomunicação (IX CCEducom), realizados em março de 2021. Em um ano no qual o vírus SARS-CoV-2 e variantes circularam por diversos territórios, Educomunicação em tempos de pandemia: práticas e desafios foi o tema discutido nos eventos. Este livro colocado à disposição do público é um modo de compartilhar caminhos e convidar pessoas curiosas a percorrerem, por meio das palavras e recursos gráficos, desafios identificados e estratégias para o enfrentamento deste inesperado período de pandemia

Dementia in Fragile X-associated Tremor/Ataxia Syndrome

Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient's grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG)90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition

Prevalência de sintomas depressivos em idosos na cidade de Tremembé, Brasil: resultados preliminares de um estudo epidemiológico

Depression is a heterogeneous mental disease classified as a set of disorders, which manifest with a certain duration, frequency and intensity. The prevalence of depression in the elderly ranges from 0.5 to 16%. Objective: To establish, in an epidemiological study, the prevalence of significant depressive symptoms in the population aged 60 years or older. Methods: Results of a cross-sectional epidemiological study, involving home visits, being carried out in the city of Tremembé, Brazil, were reported. The sample was randomly selected by drawing 20% of the population over 60 years from each of the city’s census sectors. In this single-phase study, the assessment included clinical history, physical and neurological examination, cognitive evaluation, the Cornell scale and the Patient Health Questionnaire for psychiatric symptoms. Scores greater than or equal to 8 on the Cornell scale were taken to indicate the presence of \ud depressive symptoms. Results: A total of 455 elders were assessed, and of these 169 (37.1%) had clinically significant depressive symptoms (CSDS). Depression prevalence was higher among women (p<0.001) and individuals with lower education (p=0.033). The Chi-square test for trends showed a significant relationship where lower socioeconomic status was associated with greater likelihood of depressive symptoms (p=0.005). Conclusion: The prevalence of depressive symptoms was high in this sample of the population-based study and was associated with female gender, low educational level and socioeconomic status. The assessment of the entire population sample must be completedDepressão é uma doença mental heterogênea classificada como um conjunto de transtornos, que se manifestam numa certa duração, frequência e intensidade. A prevalência de depressão em idosos varia de 0,5 a 16%. Objetivo: estabelecer a prevalência de sintomas depressivos significantes em estudo epidemiológico em população acima de 60 anos. Métodos: Estudo epidemiológico do tipo transversal, no qual estão sendo realizadas visitas domiciliares na cidade de Tremembé, Brasil. A amostra foi aleatória, através do sorteio de 20% da população acima de 60 anos de cada setor censitário do município. Este estudo é de única fase, sendo realizada anamnese, exames físico e neurológico, avaliação cognitiva e aplicação de escalas de Cornell e questionário Patient Health Questionnaire para verificar sintomas psiquiátricos. Foi adotado como critério da presença de sintomas depressivos, pontuação maior ou igual a 8 na escala de Cornell. Resultados: Foram avaliadas 455 pessoas e destas 169 (37,1%) apresentaram sintomas depressivos significativos clinicamente (SDSC). A maior prevalência foi entre as mulheres (p<0,001) e com escolaridade mais baixa (p=0,033). Quando realizado o teste de qui-quadrado de tendência, houve relação significativa, à medida que diminui o nível socioeconômico, aumenta a chance da presença de sintomas depressivos (p=0,005). Conclusão: A prevalência de sintomas depressivos foi elevada nesta amostra do estudo populacional e com associação com gênero feminino, baixo nível educacional e socioeconômico, mas há necessidade de finalizar toda amostragem.FAPESP 2012/04815-6

Prevalence of depressive symptoms among elderly in the city of Tremembé, Brazil: Preliminary findings of an epidemiological study

ABSTRACT Depression is a heterogeneous mental disease classified as a set of disorders, which manifest with a certain duration, frequency and intensity. The prevalence of depression in the elderly ranges from 0.5 to 16%. Objective To establish, in an epidemiological study, the prevalence of significant depressive symptoms in the population aged 60 years or older. Methods: Results of a cross-sectional epidemiological study, involving home visits, being carried out in the city of Tremembé, Brazil, were reported. The sample was randomly selected by drawing 20% of the population over 60 years from each of the city's census sectors. In this single-phase study, the assessment included clinical history, physical and neurological examination, cognitive evaluation, the Cornell scale and the Patient Health Questionnaire for psychiatric symptoms. Scores greater than or equal to 8 on the Cornell scale were taken to indicate the presence of depressive symptoms. Results: A total of 455 elders were assessed, and of these 169 (37.1%) had clinically significant depressive symptoms (CSDS). Depression prevalence was higher among women (p<0.001) and individuals with lower education (p=0.033). The Chi-square test for trends showed a significant relationship where lower socioeconomic status was associated with greater likelihood of depressive symptoms (p=0.005). Conclusion: The prevalence of depressive symptoms was high in this sample of the population-based study and was associated with female gender, low educational level and socioeconomic status. The assessment of the entire population sample must be completed