Riscos laborais associados à manipulação de nanomateriais

De um modo geral, os nanomateriais manufaturados (NM) são definidos como materiais fabricados deliberadamente e que contêm partículas com pelo menos uma dimensão externa na gama de tamanhos compreendida entre 1 e 100 nanómetros (Comissão Europeia, 2011). A sua pequena dimensão confere-lhes propriedades físicas, químicas e biológicas que podem diferir bastante das propriedades dos materiais com a mesma composição química mas utilizados numa escala não nanométrica. São as propriedades mecânicas, óticas, elétricas e magnéticas inerentes aos materiais na escala “nano” que os tornam vantajosos para as mais diversas aplicações industriais e biomédicas. Contudo, a enorme expansão que tem vindo a acontecer ao nível da síntese, produção industrial e utilização de NMs contrasta com uma ainda insuficiente avaliação de risco para a saúde humana e para o ambiente. Efectivamente, A European Agency for Safety and Health at Work (EU-OSHA,2009) considerou a exposição a NM como o risco emergente mais premente no contexto da saúde ocupacional, estimando que entre 300.000 a 400.000 postos de trabalho lidavam já directamente com as nanotecnologias. Neste seminário será abordada a possibilidade de exposição ocupacional ao longo do ciclo de vida dos NM, bem como as suas potenciais implicações para a saúde dos trabalhadores. Nesta palestra são apresentados alguns estudos realizados no Instituto Nacional de Saúde Doutor Ricardo Jorge que produziram evidência científica que poderá contribuir para o esforço internacional da regulação da produção e aplicação de nanomateriais, salvaguardando a saúde humana face às suas aplicações inovadoras.

Looks Like FH But it’s not FH: Extended Lipid Profile of Paediatric Clinical FH Patients Reveals a Different Lipid Profile in FH Negative Patients

Aim: Familial Hypercholesterolemia (FH) is a common autosomal dominant disorder, caused by mutations in genes involved in cholesterol’s clearance (LDLR, APOB, PCSK 9). Clinical diagnosis is usually based on high total cholesterol or LDL-C levels and family history of premature coronary heart disease. Using an extended lipid profile of paediatric dyslipidemic patients, we aim to identify biomarkers for a better diagnosis of FH in clinical settings.

Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients

Aims: Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in defective catabolism of LDL leading to premature coronary heart disease. Presently, more than 1700 different mutations in the LDLR gene have been described as causing FH but the majority of them remain without functional characterization. In the Portuguese Familial Hypercholesterolemia Study (PFHS), 123 LDLR alterations were found in 243 index patients and their relatives up to date. Until now, 70 of these alterations already have a final classification of pathogenic and 15 have been proved by in vitro studies to be non-pathogenic. The aim of the present work is to functionally characterize 16 LDLR missense alterations found in Portuguese FH patients and worldwide.

Using percentiles to diagnose familial hypercholesterolemia in Portugal

Aims: Familial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism, clinically characterised by high levels of low-density lipoprotein cholesterol (LDL-C) that leads to cholesterol accumulation in tendons and arteries, premature atherosclerosis and increased risk of premature coronary heart disease. In 1999, the Portuguese FH Study was established at the National Institute of Health to identify the genetic cause of hypercholesterolemia in individuals with a clinical diagnosis of FH and to perform an epidemiologic study to determine the prevalence and distribution of FH in Portugal. In the last 16 years, a genetic defect was identified in 749 patients, representing 3. 7 % of the cases estimated to exist in Portugal. Index patients were included in this study using the Simon Broome (SB) criteria. However, there are different FH clinical criteria to diagnose index cases. Since there are no clinical criteria to identify relatives with FH, the aim of this work was to investigate if a diagnostic tool based on population specific 95 th percentile improves the clinical identification of Portuguese FH patients comparing with SB criteria.

Seasonal influenza vaccine effectiveness in Portugal: results from the EuroEVA project 2015/16

The EuroEVA study aimed to estimate the 2015-16 end of season influenza vaccine effectiveness for all population and for the influenza vaccination target group. The presented results resulted from implementation of the study during 2015/2016 season.