DGH - Materiais de difusão da cultura científica e de formação
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- Era uma vez...Viver em mutaçãoPublication . Almeida, Manuela Ferreira
- Tratamento Nutricional das patologias rastreadas no Programa Nacional de Diagnóstico PrecocePublication . Almeida, Manuela Ferreira
- Genética e CancroPublication . Jordan, PeterPeter Jordan, do Centro de Genética Humana do Instituto Nacional de Saúde Dr. Ricardo Jorge, fala sobre alterações genéticas que aumentam o risco de cancro, mas também sobre os avanços da ciência que têm permitido esclarecer os mecanismos da doença e originar novas formas terapêuticas.
- Premature ovarian insufficiency caused by FMR1 premutations may be underdiagnosedPublication . Marques, Isabel; Jorge, Paula; Santos, RosárioThe FMR1 gene [Xq27.3; MIM*309550] has an unstable region comprised of CGG triplets located the 5´untranslated region. Based on the number of those repeats alleles are classified as normal, intermediate, premutation or full mutation, respectively from triplet numbers between 5 to 49, 50 to 58, 59-200 or over 200 CGG triplets. Full mutation-size expansions are associated with the fragile X phenotype. The Fragile X Syndrome [FXS; MIM#300624] is the most common cause of inherited intellectual disability. In contrast, Premutation carriers do not have manifestations of FXS in cognitive deficits, but are at increased risk for development of the ‘‘Fragile X–associated disorders'’. Examples are the Fragile X tremor ataxia syndrome [FXTAS; MIM#300623] and Fragile X Primary Ovarian Insufficiency [FXPOI; MIM#311360] (Figure 1). The FXTAS affects predominantly older males and includes gait ataxia, intention tremor and cognitive impairment, FXPOI affects approximately 20% of females with FMR1 premutations and is characterized by onset of menopause before age 40. Interestingly, the repeat size alleles that have the highest risk of developing FXPOI are in the range of 80-99 CGGs and result in a reduction of 7 years in the menopause appearance. Studies show that women who have idiopathic POI have a 1/50 chance of being a FMR1 carrier, whereas affected women with a family history of POI, have a 1/15 chance of carrying this premutation [1, 2, 3].
- O seguimento de uma doença Crónica: a FenilcetonúriaPublication . Carmona, CarlaO seguimento de uma doença crónica por uma equipa multidisciplinar: caracterização do desenvolvimento neurocognitivo e socio-emocional.
- CitogenéticaPublication . Silva, Marisa
- Os nossos micromundosPublication . Amaral, OlgaSemana Aberta do INSA, 19 a 23 de Março de 2012, CGMJM-Porto. Tema: À descoberta...da Genética. Público alvo: alunos do ensino básico. Apresentação de abertura e introdução aos temas a abordar na sessão "mãos na massa" realizadas ao longo de toda a semana aberta.
- CitogenéticaPublication . Brito, Filomena
- Public Health GenomicsPublication . Lavinha, JoãoProfessional genomic and molecular medicine and consumer genetics. The health field concept and the public health wheel. The enterprise of Public Health Genomics (PHGEN). Genetic exceptionalism. Ethical benchmarks. Introduction and use of genome-based knowledge in the health services. Stakeholder involvement.
- Cancro familiar - testes genéticos e estratégiasPublication . Isidro, Glória