Browsing by Issue Date, starting with "2016-05"
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- Quando suspeitar de uma dislipidemiaPublication . Bourbon, MafaldaThe familial dyslipidaemia are under diagnosed and so it is necessary an effort from all health professional to identify these high risk patients in order to provide the best counseling and treatment to reduce their elevated cardiovascular/hepatic/neurologic risk. A novel diagnosis method (by NGS) is being implemented in order to study a larger panel of genes for dyslipidaemia to improve patient diagnosis
- Prevalence of Aspergillus section Fumigati in portuguese slaughterhouses: a fungal and mycotoxin concernPublication . Viegas, Carla; Faria, Tiago; Sabino, Raquel; Quintal Gomes, Anita; Viegas, SusanaWithin the Aspergillus genus, Aspergillus fumigatus species is one of the most ubiquitous saprophytic fungi and is considered the section of species with higher clinical relevance. This section is the most common cause of invasive aspergillosis and a major source of infection-related mortality in immunocompromised patients. One of the most abundant metabolites produced by this fungus is the metabolite gliotoxin, which exhibits a diverse array of biologic effects on the immune system. The aim of the present work was to determine the prevalence of Aspergillus section Fumigati by cultural and molecular methods in poultry; swine/bovine; and large animal (bovine and horses) slaughterhouses. Air samples were collected through an impaction method, while surface samples were collected by the swabbing method and subject to further macro and microscopic observations. In addition, we collected air samples using the impinger method in order to perform real-time quantitative PCR (qPCR) amplification of genes from A. fumigatus complex. Aspergillus section Fumigati was present only in Stacker, Bleeding and Evisceration air collected from the Poultry Slaughterhouse (10 – 30 CFU.m3), and in air from the Gut Room collected in the Bovine Slaughterhouse (10 CFU.m3). Molecular tools amplified successfully DNA from the A. fumigatus complex in six sampling sites where the presence of this fungal species was not identified by conventional methods. Besides suggesting A. fumigatus complex as an indicator of harmful fungal contamination in this occupational setting, this study also indicates that conventional and molecular tools should be used as a combined strategy to ensure a proper characterization of fungal occupational exposure. Moreover, in the considered slaughterhouses, fungal contamination results pinpoint to co-exposure to other mycotoxins. In fact, occupational exposure to aflatoxin B1 has already been detected in Poultry Slaughterhouse. Therefore, there is a need for considering possible interactions between mycotoxins and fungi and this should be taken into account in the risk assessment process.
- Alimentação para um corpo saudávelPublication . Viegas, Silvia; Fernandes, Paulo; Coelho, Mariana; Brazão, RobertoInformação sobre cuidados a ter com a alimentação para ter um corpo saudável.
- Socioeconomic inequalities in childhood overweight: heterogeneity across five countries in the WHO European childhood obesity surveillance initiative (COSI-2008)Publication . Lissner, L.; Wijnhoven, T.M.A.; Mehlig, K.; Sjöberg, A.; Kunesova, M.; Yngve, A.; Petrauskiene, A.; Duleva, V.; Rito, A.I.; Breda, J.BACKGROUND: Excess risk of childhood overweight and obesity occurring in socioeconomically disadvantaged families has been demonstrated in numerous studies from high-income regions, including Europe. It is well known that socioeconomic characteristics such as parental education, income and occupation are etiologically relevant to childhood obesity. However, in the pan-European setting, there is reason to believe that inequalities in childhood weight status may vary among countries as a function of differing degrees of socioeconomic development and equity. SUBJECTS AND METHODS: In this cross-sectional study, we have examined socioeconomic differences in childhood obesity in different parts of the European region using nationally representative data from Bulgaria, the Czech Republic, Lithuania, Portugal and Sweden that were collected in 2008 during the first round of the World Health Organization (WHO) European Childhood Obesity Surveillance Initiative. RESULTS: Heterogeneity in the association between parental socioeconomic indicators and childhood overweight or obesity was clearly observed across the five countries studied. Positive as well as negative associations were observed between parental socioeconomic indicators and childhood overweight, with statistically significant interactions between country and parental indicators. CONCLUSIONS: These findings have public health implications for the WHO European Region and underscore the necessity to continue documenting socioeconomic inequalities in obesity in all countries through international surveillance efforts in countries with diverse geographic, social and economic environments. This is a prerequisite for universal as well as targeted preventive actions.
- Exposure and power of food marketing to children in Portugal, through TV, radio and websites – a pilot studyPublication . Cardoso, Rafael; Rito, Ana; Jewel, JO; Breda, JoãoINTRODUCTION: Marketing of foods high in fat, salt and sugar (HFSS) has been idenDfied as a significant risk factor for childhood obesity and for the development of diet-related noncommunicable diseases. The World Health OrganizaDon (WHO) has been providing guidance to Member States to reduce food marketing pressure on children. Portugal has adopted legislation early 2016 to restrict food marketing to children in a series of platorms, ranging from school premises, to TV channels, Radio stations and Internet. EvaluaDng and monitoring its implementation is pivotal to ensure that effective action is taken. OBJECTIVE: To conduct a pilot study to idenDfy the most frequently used TV channels, radio stations and websites among children; To assess the marketiong of HFSS foods on TV and Radio using the WHO Regional Office for Europe nutrient profile model.
- Assessing antibiotic resistance in Gram negative bacteria from animals and the wider environmentPublication . Jones-Dias, Daniela; Caniça, Manuela; Nogueira, IsabelThe alarming increase in the levels of antibiotic resistant bacteria in clinical practice launched the call for a broader understanding of this event. This Ph.D. thesis aimed to unravel the main mobile antibiotic resistance determinants circulating in Gram negative bacteria from non-human sources, showing the contribution of mobile genetic elements for the overall process. The susceptibility and molecular epidemiological studies performed on different collections of bacterial isolates showed the predominance of multidrug resistant Escherichia coli in animals of different origins, soil and vegetables. E. coli and other species of Gram negative bacteria were related with carriage of diverse antibiotic resistance genes [e.g. blaCTX-M-1, blaCTX-M-15, blaCMY-2, blaGES-11, qnrS1, aac(6’)-Ib-cr, strAB, tet, drfA, aadA, mcr-1] that were associated with a transferable genetic support. Indeed, an assortment of mobile genetic elements (e.g. IncI1 and IncF plasmids, ISEcp1 insertion sequences, Tn402 and Tn7 transposons and class 1, 2 and 3 integrons) was detected in the genetic proximity of those antibiotic resistance genes, suggesting their profound involvement, not only in interspecies dispersion, but also in the movement of the genes within the cell. Specific genomic investigation of two Enterobactericeae isolates and the proteomic study of a third, underscored the potential of massive omic approaches to study antibiotic resistance as a global process. One of the key findings released from these studies is that antibiotic resistance is not only linked to virulence and pathogenicity, but can also be connected to core bacterial metabolic processes. The results obtained throughout this thesis extend our knowledge on the distribution of mobile antibiotic resistance genes in animals, environment and, ultimately, in the food chain. If the gathered results increased our concerns towards the current distribution of antibiotic resistant bacteria, they can also be an encouragement to address this problem at a global scale.
- O contributo da refeição escolar para a ingestão de minerais: estudo preliminarPublication . Nascimento, Ana; Santiago, Susana; Santos, Mariana; Calhau, Maria AntóniaO almoço escolar constitui uma oportunidade importante para a aprendizagem de hábitos alimentares saudáveis, sendo as refeições escolares equilibradas associadas ao aumento da concentração dos alunos na sala de aula, melhores resultados académicos e redução do número de dias em que as crianças ficam doentes. Os minerais constituem um grupo fundamental de nutrientes, não podem ser sintetizados pelo organismo e, por isso, têm que ser fornecidos pela alimentação. Este trabalho tem como objetivo determinar a composição em minerais, de refeições escolares colhidas em escolas do 1º ciclo do ensino básico público, na região metropolitana de Lisboa, de modo a avaliar os seu contributo para a dose diária recomendada. Foram analisadas 13 refeições constituidas por: sopa, prato principal de carne ou peixe, acompanhamento, salada, sobremesa e pão de mistura. As amostras foram submetidas a uma digestão ácida por micro-ondas. Os minerais Cobre, Manganês, Ferro, Zinco, Magnésio, Cálcio, Fósforo, Sódio e Potássio, foram determinados por espectrometria de emissão atómica acoplada com plasma indutivo (ICP-OES).Entre os minerais analisados, o Sódio e Potássio foram os mais abundantes, com teores entre 190 - 268 mg/100 g e 46,9 - 193 mg/100 g, respetivamente. Verificou-se que as refeições analisadas contribuem com mais de 50% da dose diária recomendada para o Sódio e 100% da dose diária recomendada para o Potássio. Relativamente ao Cálcio e Ferro as refeições analisadas fornecem 11% e 12 % da dose diária recomendada. O almoço escolar deve fornecer os nutrientes essenciais e, simultaneamente, permitir o desenvolvimento de preferências alimentares saudáveis, variadas e equilibradas. Este estudo permitiu conhecer o perfil de minerais do almoço, servido em escolas na região metropolitana de Lisboa. Este diagnóstico da situação poderá fundamentar a elaboração de programas de intervenção em saúde e de educação alimentar.
- Good Practices in the field of Health Promotion and Chronic Disease PreventionPublication . Costa, Luciana; Kunkel, ThomasBackground; Approach and Concept; Methods (Country reviews; Definition of Good Practice Criteria; Identification of Good Practice Examples; Identification of transferable practices / elements); Outputs
- Validação da sequenciação de nova geração (NGS) no diagnóstico molecular de formas hereditárias de cancro da mama e colorretalPublication . Theisen, Patrícia; Silva, Catarina; Pereira-Caetano, Iris; Rodrigues, Pedro; Isidro, Glória; Vieira, Luís; Gonçalves, JoãoIntrodução: O cancro da mama e o cancro colorretal constituem, entre as patologias oncológicas, duas das principais causas de morte. Cinco a 10% destes casos estão associados a alterações germinais em genes reconhecidamente associados a suscetibilidade para desenvolvimento de formas hereditárias de cancro da mama e de cancro colorretal. Objetivos: O presente trabalho teve como objetivo validar a metodologia de sequenciação de nova geração (NGS), por comparação com os resultados obtidos previamente pelo método de Sanger, para diversas variantes presentes em diferentes genes - BRCA1, BRCA2, TP53, APC, MUTYH, MLH1, MSH2 e STK11 - que conferem suscetibilidade para desenvolvimento de cancro da mama e/ou colorretal. Métodos: Foram sequenciadas por NGS 64 amostras de DNA de utentes com suspeita clínica de predisposição hereditária para cancro da mama ou colorretal, utilizando o painel de sequenciação TruSight Cancer (análise de 94 genes) e a plataforma MiSeq (Illumina). A análise bioinformática dos resultados foi realizada com recurso aos softwares MiSeq Reporter, VariantStudio e Isaac Enrichment (Illumina).
- Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patientsPublication . Alves, A.C.; Azevedo, S.; Benito-Vicente, A.; Etxebarria, A.; Barros, P.; Medeiros, A.M.; Martín, C.; Bourbon, MafaldaAims: 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.
