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- Infecção por vírus West Nile [Flavivírus] em Portugal. Considerações acerca de um caso clínico de síndrome febril com exantemaPublication . Alves, M.J.; Poças, J.M.; Luz, T.; Amaro, F.; Zé-Zé, Líbia; Osório, H.O vírus West Nile [WN] é um flavivírus transmitido por mosquitos e agente etiológico de febre e de doença neuroinvasiva. O vírus WN mantém-se na natureza em ciclos enzoóticos que envolvem mosquitos ornitofílicos, como vectores primários, e algumas espécies de aves como reservatório primário. A sua presença em Portugal é conhecida, surgindo esporadicamente alguns casos de infecção em equinos e humanos. Em 2010 foi identificado um caso humano detectado em toda a época de actividade de mosquitos nesse ano. Neste caso a paciente apresentava quadro febril com hiperpirexia muito irregular, por vezes com calafrios e picos de febre superiores a 39ºC, cefaleias, mialgias, adinamia e astenia acentuada, adenomegalias volumosas e dolorosas na região cervical, assim como exantema eritematoso difuso com maior expressão no tronco. Os exames laboratoriais identificaram seroconversão de anticorpos IgM contra o vírus West Nile.
- Genetic and virulence characterization of Toxoplasma gondii strains isolated from pigeons in Lisbon regionPublication . Vilares, Anabela; Gargate, M.J.; Ferreira, I.; Martins, S.; Waap, H.; Ângelo, H.habitat with cats and humans, bands are observed in recreational areas such as urban parks, playgrounds and parks. The interaction between cats, birds and human population is quite evident favoring the fecal-oral transmission of T. gondii between the definitive host and intermediate hosts, in the urban cycle of the parasite. The results of the inoculation in vivo of the brain homogenates showed pigeon isolation rates (58.5%) significantly higher when compared with previous studies, including the preliminary study in 2006 that the isolation rate in mice was 39,1% (9/23) (Waap 2008) and another that was not achieved any isolation in mouse (Godoi 2010). The genotypic analysis revealed a majority of strains of type II, which is consistent with what has been described in Portugal, the rest of Europe and the USA (Ajzenberg 2005, Fazaeli 2000, Honoré 2000, Howe 1997, Waap 2008) . We also isolated strains of type III and type I. The identification of type III strains in animals have been reported by other authors, but the type I have been rarely found in animals has not been previously described in Portugal except in a preliminary study of our team at the 2008 (Waap 2008). The type I strains are usually associated with high virulence in laboratory mice, leading to death within days. This strain was identified by molecular biology and has not been isolated in vivo. The difficulty in isolation of strain may be related to the small number of cysts of the type I strains can develop, these type strains are considered low cystogenic. Genetic characterization of strains of T. gondii is far from its terminus, more sequences of different genes should be studied to help the understanding of the molecular epidemiology and genetic characterization of T. gondii, a relevant parasite for which these data are lacking. The combination of data from humans and animals, through the use of high resolution genetic characterization should improve our perceptive of T. gondii, which will be ultimately beneficial for the control of T. gondii transmission.
- Portuguese experience on cascade screening of index patients with FHPublication . Medeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.
- Influence of LPL, APOAIV, APOAV, APOCIII and USF1 polymorphisms in a Portuguese population with clinical diagnosis of familial combined hyperlipidaemiaPublication . Santos, T.; Rato, Q.; Gaspar, I.M.; Bourbon, Mafalda
- Analysis of Genetic Markers for Cardiovascular Disorders in a Portuguese population with Familial HypercholesterolaemiaPublication . Gomes, A.; Santos, T.; Costa, L.; Bourbon, M.Familial Hypercholesterolaemia is a genetic disorder characterized by an increase in TC and LDLC leading to premature atherosclerosis (ATH) and cardiovascular disorders (CVD) but not all FH patients develops premature CVD. Early identification of FH patients at an even increased risk of developing CVD is important. Genetic markers could improve risk stratification for this patients. Inflammation has been considered to be involved in the pathogenesis of CVD and genetic and oxidative stress markers may also contribute to ATH and CVD outcome.
- Are There Differences in the Type of High-sodium Food Groups and Level of Consumption among African Migrant and Native Hypertensive Medicated Patients, Followed at Primary Care Level in Lisbon?Publication . Pinto, A.; Violeta, A.; Almeida, A.; Cardoso, I.; Fernandes, M.; Guerra, F.; Guiomar, S.; Nicola, P.; Rocha, E.
- Cardiovascular risk assessment of pediatric dyslipidemic patientsPublication . Medeiros, A.M.; Alves, A.C.; Bourbon, M.
- Functional studies of LDLR mutationsPublication . Alves, Ana Catarina; Silva, Sónia; Patel, Dilip; Rui, Malhó; Soutar, Anne Katherine; Bourbon, Mafalda
- Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levelsPublication . Martins, Rute; Proença, Daniela; Silva, Bruno; Barbosa, Cristina; Silva, Ana Luísa; Faustino, Paula; Romão, LuísaNonsense-mediated decay (NMD) is an mRNA surveillance pathway that selectively recognizes and degrades defective mRNAs carrying premature translation-termination codons. However, several studies have shown that NMD also targets physiological transcripts that encode full-length proteins, modulating their expression. Indeed, some features of physiological mRNAs can render them NMD-sensitive. Human HFE is a MHC class I protein mainly expressed in the liver that, when mutated, can cause hereditary hemochromatosis, a common genetic disorder of iron metabolism. The HFE gene structure comprises seven exons; although the sixth exon is 1056 base pairs (bp) long, only the first 41 bp encode for amino acids. Thus, the remaining downstream 1015 bp sequence corresponds to the HFE 39 untranslated region (UTR), along with exon seven. Therefore, this 39 UTR encompasses an exon/exon junction, a feature that can make the corresponding physiological transcript NMD-sensitive. Here, we demonstrate that in UPF1-depleted or in cycloheximide-treated HeLa and HepG2 cells the HFE transcripts are clearly upregulated, meaning that the physiological HFE mRNA is in fact an NMD-target. This role of NMD in controlling the HFE expression levels was further confirmed in HeLa cells transiently expressing the HFE human gene. Besides, we show, by 39-RACE analysis in several human tissues that HFE mRNA expression results from alternative cleavage and polyadenylation at four different sites – two were previously described and two are novel polyadenylation sites: one located at exon six, which confers NMD-resistance to the corresponding transcripts, and another located at exon seven. In addition, we show that the amount of HFE mRNA isoforms resulting from cleavage and polyadenylation at exon seven, although present in both cell lines, is higher in HepG2 cells. These results reveal that NMD and alternative polyadenylation may act coordinately to control HFE mRNA levels, possibly varying its protein expression according to the physiological cellular requirements.
- Amianto - Risco atual de exposiçãoPublication . Proença, Maria do Carmo