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- Carbapenem-non-susceptible Enterobacteriaceae in Europe: conclusions from a meeting of national expertsPublication . Grundmann, H.; Livermore, D.M.; Giske, C.G.; Canton, R.; Rossolini, G.M.; Campos, J.; Vatopoulos, A.; Gniadkowski, M.; Toth, A.; Pfeifer, Y.; Jarlier, V.; Carmeli, Y.; CNSE Working Group
- Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility?Publication . Navarro-Costa, Paulo; Plancha, Carlos E.; Gonçalves, JoãoThe azoospermia factor (AZF) regions consist of three genetic domains in the long arm of the human Y chromosome referred to as AZFa, AZFb and AZFc. These are of importance for male fertility since they are home to genes required for spermatogenesis. In this paper a comprehensive analysis of AZF structure and gene content will be undertaken. Particular care will be given to the molecular mechanisms underlying the spermatogenic impairment phenotypes associated to AZF deletions. Analysis of the 14 different AZF genes or gene families argues for the existence of functional asymmetries between the determinants; while some are prominent players in spermatogenesis, others seem to modulate more subtly the program. In this regard, evidence supporting the notion that DDX3Y, KDM5D, RBMY1A1, DAZ, and CDY represent key AZF spermatogenic determinants will be discussed.
- Influência, a curto prazo, da publicidade televisiva nas escolhas alimentares em crianças de idade pré-escolarPublication . Rodrigues, Ana Sofia; Rito, Ana Isabel; Silva, Miguel Oliveira daObjectivo: O presente trabalho tem como objectivo investigar os efeitos, a curto prazo, da publicidade televisiva de alimentos “saudáveis” e “HFSS – high in fat, sugar and salt” (ricos em gordura, açúcar e sal) nas escolhas alimentares infantis, e avaliar se a idade, o estado nutricional e os hábitos de visionamento televisivo são factores determinantes nestes efeitos. Métodos: Trata-se de um ensaio aleatório e controlado, com um grupo de controlo (não exposto a publicidade) e dois grupos de intervenção, um exposto a anúncios de alimentos HFSS e outro exposto a anúncios de alimentos saudáveis. Noventa crianças de idade pré-escolar foram distribuídas aleatoriamente pelos três grupos, e após as condições experimentais foram avaliadas as suas escolhas alimentares. Resultados: As crianças expostas a anúncios de alimentos HFSS escolheram mais vezes os alimentos publicitados no seu grupo do que as restantes, sendo que as escolhas das crianças mais novas e das que apresentavam peso normal e maiores hábitos de visionamento televisivo foram as mais influenciadas pela publicidade. Adicionalmente, quando os alimentos seleccionados foram analisados individualmente, um hambúrguer e um chocolate (alimentos HFSS) foram mais escolhidos pelas crianças expostas a anúncios destes alimentos comparativamente com as restantes, sendo que o risco relativo desta escolha foi menor para as crianças que visionaram anúncios de alimentos saudáveis. Os anúncios de alimentos HFSS foram mais eficazes do que os de alimentos saudáveis ao persuadir as crianças relativamente às suas escolhas alimentares. No entanto, não foram encontradas diferenças, entre os grupos, no que respeita à densidade energética e de certos nutrientes nas escolhas alimentares das crianças. Conclusões: Pode concluir-se que a publicidade de alimentos HFSS parece incentivar as crianças a escolher os alimentos anunciados, pelo que a exposição à televisão deverá ser limitada, principalmente nas crianças mais novas. Apesar da publicidade de alimentos saudáveis não ter sido tão eficaz ao influenciar as escolhas alimentares infantis, poderá ser uma estratégia com interesse na prevenção da obesidade infantil.
- Médicos-Sentinela: relatório de actividades 2008Publication . Departamento de EpidemiologiaA Rede Médicos-Sentinela (MS) é constituída por médicos de Clínica Geral/Medicina Familiar (CG) cuja actividade profissional é desenvolvida, na sua maioria, em Centros de Saúde do Serviço Nacional de Saúde, começando no entanto a tomar expressão a prática clínica estruturada em Unidades de Saúde Familiares. Com efeito no ano em análise identificaram-se 47 Médicos–Sentinela cuja prática se desenvolvia, dispersa por 22 Unidades de Saúde Familiar.
- Borrelia lusitaniae and Lyme borreliosis in Portugal: a contribution to the study of an emerging bacterial zoonosis with an impact on public healthPublication . Lopes de Carvalho, Isabel; Núncio, Maria Sofia; Carolino, M. ManuelaLyme borreliosis, is a tick-borne disease caused by Borrelia burgdorferi sensu lato, that is considered an emerging disease in some regions of the world, namely in Portugal. The B. burgdorferi s. l. complex includes 16 different species that are transmitted to the vertebrate host by the tick vector. The principal vector in Europe is Ixodes ricinus. LB is a multisystem disease involving many organs such as the skin, the nervous system, the joints, and the heart. The main goal of this project is to examine specific biological and molecular aspects of B. lusitaniae. The aims of this dissertation are divided into two main topics: Human infection and the eco-epidemiological study of B. burgdorferi s.l. in Portugal. Although LB is a mandatorily notifiable disease in Portugal, the evaluation of CEVDI/INSA data concerning human cases and the number of notified cases shows that this disease is clearly underreported in Portugal. In the period of 1999-2004, the estimated incidence was 0.4 per 100 000 inhabitants, which is relatively low when compared with some endemic countries. In this work it was reported an isolation of B. lusitaniae from a human patient presenting with a vasculitis-like syndrome that confirm the patogenicity of this genospecies. This clinical report supports also the hypothesis that the clinical manifestations associated with infection by B. lusitaniae include some clinical symptoms until this moment considered unspecific for LB. In a prospective study, twelve patients with clinical diagnostic of LB were analysed and enabled the first detection of B. afzelii DNA in a patient with neurological symptoms. A survey of ixodid ticks collected in Madeira Island and southern region revealed that both are hotspot regions for the presence of B. lusitaniae, however other Borrelia genospecies were detected in Madeira Island. Moreover, Ixodes ricinus species was confirmed as the principal vector of this zoonosis in Portugal. Other species such as Dermacentor marginatus were found to contain Borrelia DNA, but the ability of this tick to transmit B. burgdorferi is unknown. The sequences analysis of the isolates obtained from ticks from the southern region reveal that some recombinants strains are present which could indicate that an intersection in the allelic profiles of the B. lusitaniae populations exists. In this dissertation is also described the first report of dual infections of Rickettsia helvetica, R. monacensis and R. slovaca, each of which infected with B. lusitaniae, highlighting the increased likelihood of infection by multiple agents to humans. Concerning the study on migratory shorebirds the detection of B. garinii DNA was observed in three different genera (black-tailed godwits Limosa l. limosa, Icelandic black-tailed godwit Limosa l. islandica and little stints Calidris minuta) and also Francisella tularensis subsp. holarctica DNA in a little stint. The studies conducted in animal species prove the involvement of the small mammals, Apodemus sylvaticus, as a potential reservoir of B. lusitaniae with the first isolate from this animal species. Seropositive samples were obtained from M. spretus and R. rattus species. Phylogenetic analyses grouped this new isolate near other B. lusitaniae strains isolated within this dissertation and most closely aligned to the North African clade. Furthermore the importance of lizards (Teira dugessi) in the maintenance of B. burgdorferi s.l. was confirmed. Potential B. valaisiana isolation from lizard tissues and detection on parasitizing ticks was reported for the first time, but this observation needs conformation. B. lusitaniae DNA was also detected in lizard tissues and in ticks that are collected from them. However, the sequence data from lizards’ isolation suggest the co-existence of B. lusitaniae. This data indicates that there may exist a sylvatic cycle specific to the B. lusitaniae, maintained by a variety of hosts and reservoirs. Many aspects introduced and explored in this work will require more detailed investigations. However, this dissertation contributes to clarify some important epidemiological aspects of the clinical and laboratorial diagnosis of LB, a disease with impact in public health in Portugal.
- Mosquito species distribution in mainland Portugal 2005-2008Publication . Osório, Hugo C.; Amaro, Fátima; Zé-Zé, Líbia; Pardal, Sara; Mendes, Luísa; Ventim, Rita; Ramos, Jaime A.; Nunes, Sofia; Alves, M.J.; REVIVE workgroupInformation on distribution and relative abundance of the mosquito fauna of mainland Portugal has been collected by several surveillance programmes and projects over a long period. The work presented here documents additional information provided by capture of adult mosquitoes by the use of CDC light traps baited with CO2 in 48 localities in 13 districts in different parts of mainland Portugal during the period 2005-2008, and by larval surveys using dippers. More than 150,000 adult mosquitoes and 3,000 larvae belonging to 16 species were identified at the National Institute of Health / Centre for Vectors and Infectious Diseases Research. The three commonest species were Ochlerotatus caspius, Culex pipiens, and Cx. theileri. The most widespread species was Cx. pipiens, followed by Culiseta longiareolata. The composition and abundance of the different mosquito populations varied between geographical locations. Only larvae of two species, Cx. hortensis and Cx. laticinctus, were found. Some effects of collection methods on a complete picture of mosquito distribution and abundance are discussed.
- Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNAPublication . Azevedo, Olga; Vilarinho, Laura; Almeida, Filipa; Ferreira, Francisco; Guardado, Joana; Ferreira, Mariana; Lourenço, António; Medeiros, Rosa; Almeida, JoãoCardiomyopathy is a manifestation of mitochondrial cytopathies, but rarely constitutes the dominant feature, especially in adults. We report the case of a 59-year-old male with a personal and maternal history of diabetes and deafness, who presented with cardiomyopathy and kidney disease. We diagnosed the patient as having a mitochondrial cytopathy resulting from the 3243A>G mutation on the tRNALeu(UUR) gene in the mitochondrial DNA. The family history, broad spectrum of clinical manifestations and fluctuant clinical course provided clues to the diagnosis. We discuss the possible mechanisms underlying the phenotypic variability and fluctuant clinical course of mitochondrial disorders and the potential usefulness of coenzyme Q10 and L-carnitine in 3243A>G mutation patients.
- Programa Nacional de Diagnóstico Precoce: Relatório 2009Publication . Osório, Rui Vaz; Vilarinho, LauraRelatório do Programa Nacional de Diagnóstico Precoce relativo ao ano de 2009. O Programa Nacional de Diagnóstico Precoce tem como objectivo primário, o rastreio neonatal de doenças cujo tratamento precoce permita evitar nas crianças rastreadas, atraso mental, situações de coma e alterações neurológicas ou metabólicas graves e definitivas.
- Prevenção de lesões infantis: fichas técnicasPublication . Organização Mundial da Saúde; Contreiras, Teresa; Von Amann, Gregória; Quintela, Maria JoãoUma estratégia compreensiva para a saúde e desenvolvimento das crianças deverá incluir todas as principais causas de doença e incapacidade, e como tal deverá contemplar os acidentes. O actual enfoque nos cuidados de saúde primários indica uma oportunidade de reestruturação dos programas de saúde das crianças. O sucesso destes programas deverá ser medido, não só pelos tradicionais indicadores de mortalidade por doenças infecciosas mas também por indicadores de acidentes fatais e não fatais.