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- Programa Nacional de Diagnóstico Precoce: relatório de actividades em 2007Publication . Osório, Rui Vaz; Comissão Nacional para o Diagnóstico PrecoceRelatório de actividades desenvolvidas no âmbito do Programa Nacional de Diagnóstico Precoce no ano de 2007.
- Médicos-Sentinela : relatório de actividades 2006Publication . Departamento de EpidemiologiaEm 2006, colaboraram na rede 139 médicos de Clínica Geral. Ocorreram 8 adesões relativamente ao ano de 2005. No Continente a participação correspondeu a 2,4% do total de Clínicos Gerais a desempenhar funções nos Centros de Saúde do Continente.
- The effect of air-conditioning (AC) on the in hospital mortality during the 2003 heat-wave in Mainland PortugalPublication . Nunes, Baltazar; Paixão, Eleonora; Dias, Carlos Matias; Nogueira, Paulo; Falcão, José MarinhoThe August 2003 heat-wave accounted for an excess of more than 1900 deaths in Portugal. At the European level it is acknowledged that this heat-wave was responsible for an excess of about 70000 deaths. In both situations a considerable number of deaths seem to have occurred in hospitals. The aim of this study was to evaluate the association between hospital existence of AC and the in hospital mortality rate during the 2003 heat-wave in Portugal mainland. A historic cohort design was used, including all patients with aged 45 or more, hospitalized during the last 7 days before the beginning of 2003’s heat-wave, and, therefore exposed to excess heat only in hospital. The study endpoint was the survival of patients in the 18 days of the heat-wave plus two days. This endpoint was compared between patients in services with air-conditioning (AC+) against patients in services without air-conditioning (AC-). Data was obtained from the National Hospital Discharge Database. Information on the air-conditioning existence was obtained by a survey of hospital administrations during 2007. The association between the survival of patients and being hospitalized in AC+ services was assessed with a Cox regression model that has included the covariates sex, age, hospital region, type of service, and main diagnosis at discharge as potential confounders. From all the hospitals of Portugal mainland 41 (54%) participated in the study (2093 patients). Statistical significant differences were found between patients hospitalized in AC+ versus AC- services. The hazard ratio of death for patients in AC+ services versus patients in AC- services was 0.60 (95% CI=0.37-0.97). Our study indicates that patients (<=45 years) hospitalized in a service AC+ were protected from the heat excess effect with a 40% risk reduction of death. These results support the recommendations of hospital acclimatization issued by the Portuguese Heat Wave Contingency Plan.
- Cinco chaves para uma alimentação mais segura: manualPublication . Organização Mundial de Saúde; Instituto Nacional de Saúde Doutor Ricardo Jorge, IP (trad.)Todos os dias milhões de pessoas adoecem e alguns milhares acabam por falecer devido a doenças de origem alimentar que são possíveis de prevenir. A correcta preparação dos alimentos permite prevenir a maioria das doenças de origem alimentar. A Organização Mundial de Saúde (OMS) desenvolveu uma mensagem global de segurança alimentar, através de cinco regras chave que promovem a saúde, as Cinco Chaves para uma Alimentação mais Segura: 1.Mantenha a limpeza; 2.Separe alimentos crus de alimentos cozinhados; 3.Cozinhe bem os alimentos; 4.Mantenha os alimentos a temperaturas seguras; 5. Use água e matérias-primas seguras. Este manual de formação tem como objectivo promover a divulgação da informação contida no poster da OMS "Cinco Chaves para uma Alimentação mais Segura" através de esquemas de comunicação da mensagem. O manual disponibiliza igualmente indicações e sugestões para a adaptação do conteúdo programático a diferentes grupos alvo (ex: profissionais do sector da restauração, consumidores, crianças, etc.).
- A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaPublication . Gilling, M.; Lauritsen, M.B.; Møller, M.; Henriksen, K.F.; Vicente, A.M.; Oliveira, G.; Cintin, C.; Eiberg, H.; Andersen, P.S.; Mors, O.; Rosenberg, T.; Brøndum-Nielsen, K.; Cotterill, R.M.; Lundsteen, C.; Ropers, H.H.; Ullmann, R.; Bache, I.; Tümer, Z.; Tommerup, N.Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.
- Infecção VIH/SIDA : a situação em Portugal em 31 de Dezembro de 2007Publication . Centro de Vigilância Epidemiológica das Doenças Transmissíveis; Coordenação Nacional Para a Infecção VIH/SIDA
- Ceruloplasmin expression by human peripheral blood lymphocytes: a new link between immunity and iron metabolismPublication . Banha, J.; Marques, L.; Oliveira, R.; Martins, M. de F.; Paixão, E.; Pereira, D.; Malhó, R.; Penque, D.; Costa, L.Ceruloplasmin (CP) is a multicopper oxidase involved in the acute phase reaction to stress. Although the physiological role of CP is uncertain, its role in iron (Fe) homeostasis and protection against free radical-initiated cell injury has been widely documented. Previous studies showed the existence of two molecular isoforms of CP: secreted CP (sCP) and a membrane glycosylphosphatidylinositol (GPI)-anchored form of CP (GPI-CP). sCP is produced mainly by the liver and is abundant in human serum whereas GPI-CP is expressed in mammalian astrocytes, rat leptomeningeal cells, and Sertolli cells. Herein, we show using RT-PCR that human peripheral blood lymphocytes (huPBL) constitutively express the transcripts for both CP molecular isoforms previously reported. Also, expression of CP in huPBL is demonstrated by immunofluorescence with confocal microscopy and flow cytometry analysis using cells isolated from healthy blood donors with normal Fe status. Importantly, the results obtained show that natural killer cells have a significantly higher CP expression compared to all other major lymphocyte subsets. In this context, the involvement of lymphocyte-derived CP on host defense processes via its anti/prooxidant properties is proposed, giving further support for a close functional interaction between the immune system and the Fe metabolism.
- Familial hypercholesterolaemia in PortugalPublication . Bourbon, M.; Alves, A.C.; Medeiros, A.M.; Silva, S.; Soutar, A.K.; Investigators of Portuguese FH StudyFamilial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD). Although Portugal should have about 20,000 cases, this disease is severely under-diagnosed in our country, this being the first presentation of Portuguese data on FH. A total of 602 blood samples were collected from 184 index patients and 418 relatives from several centres throughout Portugal. Fifty-three different mutations were found in 83 index patients, 79 heterozygous and 4 with two defective LDLR alleles. Additionally, 4 putative alterations were found in 8 patients but were not considered mutations causing disease, mainly because they did not co-segregate with hypercholesterolaemia in the families. Three unrelated patients were found to be heterozygous for the APOB(3500) mutation and two unrelated patients were found to be heterozygous for a novel mutation in PCSK9, predicted to cause a single amino acid substitution, D374H. Cascade screening increased the number of FH patients identified genetically to 204. The newly identified FH patients are now receiving counselling and treatment based on the genetic diagnosis. The early identification of FH patients can increase their life expectancy and quality of life by preventing the development of premature CHD if patients receive appropriate pharmacological treatment.
- Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIICPublication . Coutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Ferreira, Célia; Lopes, Lurdes; Prata, Maria João; Alves, Sandra
- Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the youngPublication . Ellard, S.; Bellanné-Chantelot, C.; Hattersley, A.T.; European Molecular Genetics Quality Network (EMQN) MODY groupAIMS/HYPOTHESIS: Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes encoding the transcription factors hepatocyte nuclear factor-1 alpha and -4 alpha. A molecular genetic diagnosis often changes management, since patients with GCK mutations rarely require pharmacological treatment and HNF1A/4A mutation carriers are sensitive to sulfonylureas. These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results.