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- System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical dataPublication . Asif, Muhammad; Moura, Astrid; Couto, Francisco M.Autism spectrum disorder (ASD) is a neurodevelopmental disorder of well known complexity. ASD is characterized by impaired social interaction and communication and by stereotyped behaviors, and a high heterogeneity in clinical and genetic presentation. It is hypothesized that such complex heterogeneous phenotypic behaviors are associated with genetic factors. To dissect the complex correlations between phenotype and genotype in ASD, in the current study we will use powerful machine learning and data mining algorithms, like decision trees. We will integrate clinical information (from the diagnostic instruments ADI-R: Autism Diagnostic Interview-Revised and ADOS: Autism Diagnostic Observation Schedule, as well as adaptive behavior scale VABS: Vineland Adaptive Behavior Scale and cognitive scales adapted to age and cognitive level) and genetic data (Copy Number Variants, CNVs) of 3000 ASD individuals with ASD. Data on this patient cohort was obtained by the Autism Genome Project international consortium, which included 335 Portuguese patients from our dataset. This analysis will identify autism behavior associations with genetic risk factors, and eventually allow categorization of patients and prognosis according to genotype. We will initially assess the effect of deletion and duplication events and de novo and transmitted CNVs in disease clinical presentation, and progress to analyze the association of CNVs containing candidate genes for ASD with disease phenotype. So far, the etiology of autism is not well understood due to interactions between multiple factors. Genetic, metabolic, gastrointestinal, immunological and neurobiological factors have been associated with ASD etiology. Therefore, we will use a system biology based approach for ASD analysis, which will integrate genetic, miRNA, neurobiology and clinical data to determine how multiple factors can influence the autism heterogeneity. This work will improve the accuracy of data mining techniques, by building specialized classifiers based on a machine learning approach), and by applying semantic enrichment analysis. These classifiers will help in rapid diagnosis of ASD. Moreover, we will provide a framework for autism analysis with knowledge graph based data organization. This framework will enlist classifiers, feature selection and cross validation methods for ASD analysis. We will also provide a comparative and testing phase to cross check the accuracy of framework. ASD is a complex disorder, therefore enhanced understanding of associations at multiple levels (genetic, miRNA, neurobiology, clinical and behavioral), will be useful to assist in ASD diagnosis and prognosis.
- 7ª Reunião Anual PortFIR "Fiabilidade da informação Alimentar - Indústria e Ciência, numa parceria para a Qualidade”: resumo da reuniãoPublication . Viegas, Silvia; Brazão, Roberto; Oliveira, Luísa; Calhau, Maria AntóniaResumo da 7ª Reunião Anual PortFIR, subordinada ao tema: "Fiabilidade da Informação Alimentar - Indústria e Ciência, numa parceria para a Qualidade”. A reunião foi realizada pelo Departamento de Alimentação e Nutrição (DAN) do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA, IP), em parceria com a GS1 Portugal, no dia 30 de outubro de 2014. Neste resumo apresenta-se as comunicações e abstrats/posters do evento bem como os indicadores do grau de satisfação e sugestões dos participantes. O programa PortFIR - Plataforma Portuguesa de Informação Alimentar -, inspirado na rede europeia EuroFIR (European Food Information Resource), visa a implementação de redes portuguesas de partilha de conhecimento em segurança alimentar e nutrição e a futura criação de um portal que incluirá bases de dados sustentáveis e de qualidade reconhecida sobre Composição de Alimentos, Contaminação de Alimentos e Consumos Alimentares.
- Avaliação das vias potenciais de exposição humana num estuário contaminado: o caso do Estuário do SadoPublication . Silva, Susana Pereira; Machado, Ausenda; Paixão, Eleonora; Caeiro, Sandra; Dias, Carlos Matias
- Contaminação do ambiente interior de creches e jardins-de-infância por ácaros do pó doméstico: estudo ENVIRHPublication . Cano, Manuela; Azevedo, Susana; Aguiar, Fátima; Mendes, Ana Sofia; Rosa, Nuno
- Carotenoids and α-tocopherol determination in common aromatic herbsPublication . Sanches-Silva, A.; Carvalho-Costa, D.; Albuquerque, T.G.; Reis, A.R.; Castilho, M.C.; Ramos, F.; Machado, A.V.; Costa, H.S.Aromatic herbs have long been recognised for their pleasant flavour and therapeutic properties. Nowadays there is an increasing interest on their study, especially in what concerns to their bioactive compounds with potential health benefits. The objective of this study was to analyse seven aromatic herbs regarding their content on carotenoids (zeaxanthin, lutein, β-cryptoxanthin, lycopene, α-carotene and β-carotene) and α-tocopherol. Samples were acquired in supermarkets of Lisbon in the dried form. The following aromatic herbs were selected for the study: basil (Ocimum basilicum L.), marjoram (Origanum majorana L.), oregano (Origanum vulgare L.), peppermint (Mentha piperita L.), rosemary (Rosmarinus officinalis L.), tarragon (Artemisia dracunculus L.) and thyme (Thymus vulgaris). Carotenoids were extracted from samples with hexane/ethanol, 4:3 (v/v). In the case of peppermint, thyme, basil and tarragon, two sample preparation procedures were compared, with and without saponification with methanolic KOH (10%, w/v) during 4 h. Ultra-High Performance Liquid Chromatography with diode array detection (UHPLC-DAD) was used for quantification. An Acquity UPLC® BEH C18 guard column (5.0 mm x 2.1 mm I.D., 1.7 µm particle size) and an Acquity UPLC® BEH C18 analytical column (50 mm x 2.1 mm I.D., 1.7 µm particle size) were selected for the separation. The mobile phase was a gradient of solvent (A) ultrapure water and solvent B [acetonitrile/methanol (containing 0.05 M ammonium acetate)/dichloromethane (75:20:5, v/v/v)]. The run time was 22 min and the flow-rate was 0.5 mL/min. Saponification is a common step for the determination of carotenoids in foods from plant origin because it allows the hydrolysis of carotenoid esters and carotenol esters, and eliminates chlorophylls and other interfering substances like unwanted lipids. However in the analysis of peppermint, thyme, basil and tarragon, saponification degraded carotenoids. Lutein was found in all the studied aromatic herbs (from 389 to 20739 µg/100 g of sample, for tarragon and thyme, respectively) and zeaxanthin in all except one. Remarkable amounts of lutein were found in thyme, indicating this particular herb as an excellent source of this carotenoid. The highest content of β-carotene was found for peppermint (1149 µg/100 g of sample) followed by marjoram (359 µg/100 g of sample). The quantification of β-carotene in rosemary, peppermint, marjoram and oregano indicates that these aromatic herbs present provitamin A activity. α- tocopherol was quantified in rosemary (9.3 mg/100 g of sample) and oregano (8.1 mg/100 g of sample). Comparing all the analysed herbs, rosemary presented the highest concentrations of α-tocopherol and zeaxanthin, and considerable concentrations of lutein. The intake of aromatic herbs may contribute for the total daily intake of antioxidants, which have positive health benefits, like prevention of cardiovascular disease and cancer, and may help to reduce the addition of sugar and salt to foods; therefore their consumption shall be encouraged and promoted.
- Underdiagnosis of Clostridium difficile across Europe: the European, multicentre, prospective, biannual, point-prevalence study of Clostridium difficile infection in hospitalised patients with diarrhoea (EUCLID)Publication . Davies, K.A.; Longshaw, C.M.; Davis, G.; Bouza, E.; Barbut, F.; Barna, Z.; Delmée, M.; Fitzpatrick, F.; Ivanova, K.; Kuipjer, E.; Macovei, I.S.; Mentula, S.; Mastrantonio, P.; von Müller, L.; Oleastro, M.; Petinaki, E.; Pituch, H.; Norén, T.; Nováková, E.; Nyc, O.; Rupnik, M.; Schmid, D.; Wilcox, M.H.BACKGROUND: Variations in testing for Clostridium difficile infection can hinder patients' care, increase the risk of transmission, and skew epidemiological data. We aimed to measure the underdiagnosis of C difficile infection across Europe. METHODS: We did a questionnaire-based study at 482 participating hospitals across 20 European countries. Hospitals were questioned about their methods and testing policy for C difficile infection during the periods September, 2011, to August, 2012, and September, 2012, to August, 2013. On one day in winter, 2012-13 (December, 2012, or January, 2013), and summer, 2013 (July or August), every hospital sent all diarrhoeal samples submitted to their microbiology laboratory to a national coordinating laboratory for standardised testing of C difficile infection. Our primary outcome measures were the rates of testing for and cases of C difficile infection per 10 000 patient bed-days. Results of local and national C difficile infection testing were compared with each other. If the result was positive at the national laboratory but negative at the local hospital, the result was classified as undiagnosed C difficile infection. We compared differences in proportions with the Mann-Whitney test, or McNemar's test if data were matched. FINDINGS: During the study period, participating hospitals reported a mean of 65·8 tests (country range 4·6-223·3) for C difficile infection per 10 000 patient-bed days and a mean of 7·0 cases (country range 0·7-28·7) of C difficile infection per 10 000 patient-bed days. Only two-fifths of hospitals reported using optimum methods for testing of C difficile infection (defined by European guidelines), although the number of participating hospitals using optimum methods increased during the study period, from 152 (32%) of 468 in 2011-12 to 205 (48%) of 428 in 2012-13. Across all 482 European hospitals on the two sampling days, 148 (23%) of 641 samples positive for C difficile infection (as determined by the national laboratory) were not diagnosed by participating hospitals because of an absence of clinical suspicion, equating to about 74 missed diagnoses per day. INTERPRETATION: A wide variety of testing strategies for C difficile infection are used across Europe. Absence of clinical suspicion and suboptimum laboratory diagnostic methods mean that an estimated 40 000 inpatients with C difficile infection are potentially undiagnosed every year in 482 European hospitals.
- Avaliação do potencial citotóxico e genotóxico de contaminantes de sedimentos do Estuário do Sado numa linha celular humanaPublication . Pinto, Miguel; Costa, Pedro Manuel; Louro, Henriqueta; Costa, Maria Helena; Lavinha, João; Caeiro, Sandra; Silva, Maria JoãoO presente estudo integra-se num projeto mais amplo que visa avaliar o risco ambiental – que inclui os riscos ecológicos e para a saúde humana - associado a este ambiente estuarino contaminado. Em particular, este estudo teve como objetivo caracterizar o potencial citotóxico e genotóxico de sedimentos colhidos em vários locais de pesca do Estuário do Sado numa linha celular humana, tendo em vista uma avaliação de eventuais efeitos nefastos para a saúde humana.
- Impacto das microcistinas no crescimento de bactérias aquáticasPublication . Miguéns, Diana; Salvador, Daniel; Valério, Elisabete
- 4º Congresso Ibérico de Cianotoxinas − Lisboa, 8-10 julho 2015Publication . Churro, Catarina; Pereira, Paulo