9 documents found, page 1 of 1

Referenciais de formação: Competências transversais nucleares (Vol. 3)

Um Caso Clínico de Infeção por Parvovírus B19 num Adulto Imunocomprometido

A infeção por parvovírus B19 (quinta doença exantematosa) é comum na infância. Em adultos, os sintomas desta infeção dependem do estado imunológico e hematológico dos doentes. Os adultos imunocompetentes apresentam geralmente síndrome gripal e artralgias transitórias. Contudo, nos doentes com anemia crónica, pode ocorrer crise aplástica transitória e consequentemente anemia grave. Nos imunossuprimidos, esta inf...

Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Mac...

Spinocerebellar ataxias are dominantly inherited neurodegenerative disorders with no disease-modifying treatment. We previously identified the selective serotonin reuptake inhibitor citalopram as a safe and effective drug to be repurposed for Machado-Joseph disease. Pre-symptomatic treatment of transgenic (CMVMJD135) mice strikingly ameliorated mutant ataxin-3 (ATXN3) pathogenesis. Here, we asked whether citalo...

Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Re...

Polyglutamine (PolyQ) diseases are a group of neurodegenerative disorders caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the coding region of specific genes. This leads to the production of pathogenic proteins containing critically expanded tracts of glutamines. Although polyQ diseases are individually rare, the fact that these nine diseases are irreversibly progressive over ...

Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-J...

Machado-Joseph disease (MJD) is an inherited neurodegenerative disease, caused by a CAG repeat expansion within the coding region of ATXN3 gene, and which currently lacks effective treatment. In this work we tested the therapeutic efficacy of chronic treatment with valproic acid (VPA) (200mg/kg), a compound with known neuroprotection activity, and previously shown to be effective in cell, fly and nematode model...

Limited effect of chronic valproic acid treatment in a mouse model of Machado-J...

Machado-Joseph disease (MJD) is an inherited neurodegenerative disease, caused by a CAG repeat expansion within the coding region of ATXN3 gene, and which currently lacks effective treatment. In this work we tested the therapeutic efficacy of chronic treatment with valproic acid (VPA) (200mg/kg), a compound with known neuroprotection activity, and previously shown to be effective in cell, fly and nematode model...

Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in an...

Polyglutamine diseases are a class of dominantly inherited neurodegenerative disorders for which there is no effective treatment. Here we provide evidence that activation of serotonergic signalling is beneficial in animal models of Machado-Joseph disease. We identified citalopram, a selective serotonin reuptake inhibitor, in a small molecule screen of FDA-approved drugs that rescued neuronal dysfunction and red...

Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients

Leber's hereditary optic neuropathy (LHON) is a maternal hereditary disease that causes blindness due to optic atrophy, with typical onset during the second or third decade of life and affects predominantly males. The primary etiological factor relates to mutations in the mitochondrial genome. The purposes of this study were the screening of the most common mutations associated with LHON by PCR-RFLP (G11778A, G...

Motivadores intrínsecos na administração pública: A centralidade da motivação p...

O aperfeiçoamento de ferramentas motivacionais será uma técnica eficaz na melhoria do desempenho dos trabalhadores da Administração Pública (AP). Este estudo enfatiza a importância da motivação intrínseca, especificamente, da motivação para o serviço público (MSP) para o desempenho individual, mostra também qual o papel da liderança neste contexto. Observámos que uma das três dimensões da variável MSP, o “Dever...