DGH - Documentos de orientação técnica
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- Análise 2D no SAMESPORS: guia práticoPublication . Neves, SofiaObjective: Through an 2D analysis, the serum proteome of Cystic Fibrosis (CF) will be study by comparing the proteins expression level in healthy versus CF carriers and CF patients. The software “Progenesis SameSpots” will be use for the 2D image analysis.
- Informação de Apoio à Pessoa com Doença RaraPublication . Comissão Interministerial da Estratégia Integrada para as Doenças Raras (2015-2020)Compilação de informação útil para apoiar a pessoa com doença rara, ao longo de todas as fases do ciclo de vida. Neste manual poderá encontrar-se informação sintetizada sobre o acesso aos cuidados de saúde no Serviço Nacional de Saúde, à educação, aos apoios e respostas sociais, bem como aos produtos de apoio atualmente disponiveis.
- Estratégia Integrada para as Doenças Raras (2015-2020): proposta de agenda de investigação, desenvolvimento e inovação em doenças rarasPublication . Comissão Interministerial da Estratégia Integrada para as Doenças Raras (2015-2020)Esta proposta surge na sequência do 'Simpósio Doenças Raras - 2017: com a investigação, um mundo de possibilidades' realizado no INSA em Lisboa em 15.12.2017. Apresentam-se algumas recomendações de caráter geral e o resultado do levantamento de lacunas de conhecimento a carecer de particular atenção em termos de ID&I. Reconhece-se a vantagem de este contributo vir a ser considerado no processo de construção (em curso) de uma Agenda de Investigação e Inovação "Saúde, Investigação Clínica e Translacional".
- Draft Best Practice Guidelines for Molecular Analysis in Fragile X SyndromePublication . Biancalana, Valérie; Steinbach, Peter; Stenhouse, Su; European Molecular Genetics Quality Network; Clinical Molecular Genetics SocietyDraft guidelines prepared following discussions at the EMQN workshop, 23-24 November 2001, Strasbourg, France. These guidelines have been fully updated and were published in January 2006
- Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophiesPublication . Abbs, S.; Tuffery-Giraud, S.; Bakker, E.; Ferlini, A.; Sejersen, T.; Mueller, C.R.Introduction: A meeting of 29 senior scientists from Europe, the USA, India and Australia, was held in Naarden, The Netherlands on November 14–16, 2008, to establish consensus Best Practice Guidelines for molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD/BMD). New therapeutic trials for DMD demand accurate diagnosis of the disorder, especially where the therapy is targeted towards specific mutations. These guidelines aim to help diagnostic laboratories attain that accuracy by describing the minimum standards for acceptable molecular diagnostic testing of DMD. For the different types of clinical referral received by a molecular diagnostic laboratory, the guidelines recommend the appropriate tests to be carried out, interpretation of the results and how those results should be reported.
- Childhood leukemia and environmental factorsPublication . Health Council of the NetherlandsEvery year, about 80 children in Belgium and 140 children in the Netherlands are diagnosed with leukaemia. A longstanding question is which role environmental factors play in the occurrence of this disease. An extensive evaluation of the scientific knowledge on a wide range of possible factors, jointly undertaken by the Belgian Superior Health Council and the Dutch Health Council within the framework of the European Science Advisory Network for Health (EuSANH), shows in general limited evidence for causal links with leukaemia in children. The possibilities for protective measures are therefore also limited, especially given the complex interplay between genetic susceptibilities and environmental exposures, both natural and man-made. It is highly likely that most cases of leukaemia cannot be prevented, and it will probably never be possible to explain individual cases of childhood leukaemia.