Browsing by Issue Date, starting with "2018-08"
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- Autism Spectrum Disorders in the European Union (ASDEU): final report: main results of the ASDEU project - 28/08/2018Publication . ASDEU ConsortiumASDEU is a pilot project funded by the European Parliament and managed by the European Commission. As the origin of this pilot project was a European Parliament decision, the EC defined and launched a call for tenders as an administrative instrument to manage that decision. This administrative circumstance providessome clues about how the tenders – the Instituto de Salud Carlos III and their coordination - has designed the structure of this final report. Conversely to other types of projects, which are structured based on decisions, linked hypotheses and methods defined by the own researchers, this call for tenders comprised several aims and commitments with the unique link that they were dealing with autism. In this way classic epidemiological questions such as prevalence estimation, problems around the early detection and intervention, economic costs, ASD policies proposals and coordination with other big European projects were included in the tenders. In addition, traditional projects activities such as coordination, dissemination and evaluation had to be implemented. In this complex framework, we decide to format the final report taking into account all these considerations and to present it using the following scheme: 1. Each aim/main task are answered in separated files/documents to facilitate their reading and understanding, instead of presenting a big document where methods and results are mixed. 2. Hence, a total of 10 documents/reports have been developed. One per each WP and main tasks (WP1_prevalence, WP1_costs WP2 to WP8) plus a main report showing the summary of results and a file with heavy annexes from the WP1 prevalence task. 3. All WP/Task reports have the same basic structure with a cover page, including funders, coordinator, title and date of the presentation to the EC; table of contents, a brief summary of that particular and specific report, the core of the report and their annexes. 4. Details of each individual report – if needed - have been also described at the beginning of the particular report (i.e.: prevalence report). Main results of the ASDEU project: This report aims to show the main findings and recommendations achieved across tasks and work packages. Comprehensive details about methods and works developed, including specific numerical data, are included in the report of each task and/or WP (separate documents).
- Autism Spectrum DisorderPublication . Moura Vicente, Astrid; Vilela, Joana; Marques, Ana Rita1) Identification of neurotransmitter and synaptic gene variants in ASD patients; 2) Are genetic variants targeting noncoding RNAs contributing to ASD risk?; 3) An integrative system biology approach to delineate complex genotype-phenotype associations in ASD; 4) Mining of genes relevant for ASD in large databases.
- Sugars determination by UPLC-MS/MS and relation with acrylamide formation in breadPublication . Jesus, Susana; Delgado, Inês; Motta, Carla; Brandão, Carlos; Castanheira, IsabelStatement of the Problem: Acrylamide is a carcinogenic contaminant produced during food processing at high temperatures. This contaminant is a Maillard Reaction product that results from a reaction between asparagine and reducing sugars. Therefore, the determination of sugar profile is an important form to understand the formation of acrylamide in foods, such as bread, potatoes or coffee. In the particular case of bread, it is important to understand the effect of fermentation on the formation of acrylamide. Until now, several techniques have been developed to determine saccharides in food, GC-MS, HPLC-DAD, HPLC-FLD, HPLC-ELSD. However, these methods have disadvantages, such as low selectivity and some methods require derivatization. Therefore, the aim of the present work was to develop a method to analyze the mono and disaccharides by UPLC-MS/MS in flour and bread dough.
- Whole genome sequencing association studies of lipids levelsPublication . Rossi, N.; Falchi, M.; Bourbon, M.; Visconti, A.Aim: Dyslipidemias are a known heritable risk factor for cardiovascular disease (CVD), being characterized by high circulating concentrations of total and LDL cholesterol and triglycerides, and/or low HDL-cholesterol levels.
- Toxicological assessment of silica-coated iron oxide nanoparticles in human astrocytesPublication . Fernández-Bertólez, Natalia; Costa, Carla; Brandão, Fátima; Kiliç, Gözde; Duarte, José Alberto; Teixeira, Joao Paulo; Pásaro, Eduardo; Valdiglesias, Vanessa; Laffon, BlancaIron oxide nanoparticles (ION) have great potential for an increasing number of medical and biological applications, particularly those focused on nervous system. Although ION seem to be biocompatible and present low toxicity, it is imperative to unveil the potential risk for the nervous system associated to their exposure, especially because current data on ION effects on human nervous cells are scarce. Thus, in the present study potential toxicity associated with silica-coated ION (S-ION) exposure was evaluated on human A172 glioblastoma cells. To this aim, a complete toxicological screening testing several exposure times (3 and 24 h), nanoparticle concentrations (5-100 μg/ml), and culture media (complete and serum-free) was performed to firstly assess S-ION effects at different levels, including cytotoxicity - lactate dehydrogenase assay, analysis of cell cycle and cell death production - and genotoxicity - H2AX phosphorylation assessment, comet assay, micronucleus test and DNA repair competence assay. Results obtained showed that S-ION exhibit certain cytotoxicity, especially in serum-free medium, related to cell cycle disruption and cell death induction. However, scarce genotoxic effects and no alteration of the DNA repair process were observed. Results obtained in this work contribute to increase the knowledge on the impact of ION on the human nervous system cells.
- Quantitative Proteomic Analysis of Skeletal Muscle Detergent-Resistant Membranes in a Smith-Lemli-Opitz Syndrome MousePublication . Cardoso, Maria Luís; Vitorino, Rui; Reguengo, Henrique; Casal, Susana; Fernandes, Rui; Duarte, Isabel; Lamas, Sofia; Alves, Renato; Amado, Francisco; Marques, FranklimSmith-Lemli-Opitz syndrome (SLOS) is an inborn error of metabolism affecting the last step of cholesterol biosynthesis. It is characterized by a deficiency of the enzyme 7- dehydrocholesterol reductase and accumulation of 7-dehydrocholesterol (7DHC) in cells and body fluids. Given the similarities between 7DHC and cholesterol, 7DHC can be incorporated into cell membranes in lieu of cholesterol. Nevertheless, due to their structural differences and distinct affinity to other membrane components, this substitution alters membrane properties and one can expect to find abnormalities in membrane protein composition. In order to identify differences in membrane proteins that could facilitate our understanding of SLOS physiopathology, we isolated detergent-resistant membranes (DRMs) from the skeletal muscle of Dhcr7T93M/T93M mice and C57/BL6 controls and performed comparative proteomic analysis using iTRAQ for peptide quantification. A total of 133 proteins were identified in the DRM fraction: 17 (13%) proteins demonstrated increased expression in SLOS mice, whereas, 21 (16%) showed decreased expression. Characterization of functional point of view and bioenergetics pathway and transmembrane transport responded to the major differences between the two groups of animals.
- EurA1c: The European HbA1c Trial to Investigate the Performance of HbA1c Assays in 2166 Laboratories across 17 Countries and 24 Manufacturers by Use of the IFCC Model for Quality TargetsPublication . EurA1c Trial GroupBACKGROUND: A major objective of the IFCC Committee on Education and Use of Biomarkers in Diabetes is to generate awareness and improvement of HbA1c assays through evaluation of the performance by countries and manufacturers. METHODS: Fresh whole blood and lyophilized hemolysate specimens manufactured from the same pool were used by 17 external quality assessment organizers to evaluate analytical performance of 2166 laboratories. Results were evaluated per country, per manufacturer, and per manufacturer and country combined according to criteria of the IFCC model for quality targets. RESULTS: At the country level with fresh whole blood specimens, 6 countries met the IFCC criterion, 2 did not, and 2 were borderline. With lyophilized hemolysates, 5 countries met the criterion, 2 did not, and 3 were borderline. At the manufacturer level using fresh whole blood specimens, 13 manufacturers met the criterion, 8 did not, and 3 were borderline. Using lyophilized hemolysates, 7 manufacturers met the criterion, 6 did not, and 3 were borderline. In both country and manufacturer groups, the major contribution to total error derived from between-laboratory variation. There were no substantial differences in performance between groups using fresh whole blood or lyophilized hemolysate samples. CONCLUSIONS: The state of the art is that 1 of 20 laboratories does not meet the IFCC criterion, but there are substantial differences between country and between manufacturer groups. Efforts to further improve quality should focus on reducing between-laboratory variation. With some limitations, fresh whole blood and well-defined lyophilized specimens are suitable for purpose.
- Relatório mensal ICARO (Importância do CAlor: Repercussões sobre os Óbitos) - Julho 2018Publication . Silva, Susana PereiraO mês de julho de 2018 foi classificado, relativamente à temperatura do ar, como muito frio pelo IPMA e não teve nenhum período de calor extremo identificado pelo Sistema ICARO uma vez que o Índice-Alerta-ICARO nunca ultrapassou o valor 1. A análise preliminar do excesso de mortalidade obtida através do sistema de Vigilância Diária da Mortalidade (VDM) não permitiu estimar quaisquer excessos de mortalidade em Portugal e em Portugal Continental. O mesmo acontece com a estratificação dos dados de Portugal Continental por região de saúde, por grupo etário e por sexo. Esta ausência de excessos e concordante com o facto de não ter sido identificado, pelo sistem ICARO, nenhum período de calor extremo no mês de julho de 2018.
- Fasciola Hepatica Extract Induces Cell Death of Mammalian CellsPublication . Ferreira, Stephanie; Fernandes, Ruben; Botelho, Monica CBackground: Fascioliasis is a neglected tropical disease that affects poor people from poor and developing countries. In the world, it has been estimated that at least 2.6 million people are affected with this disease. The International agency for Research on Cancer, states that O. viverrini and C. sinensis, also liver flukes, are considered as definitive causes of cholangiocarcinoma. However, fascioliasis caused by F. hepatica has not been associated with cancer to date. There are not any known causative associations between this parasite and liver cancer (cholangiocarcinoma). Methods: Chine Hamster Ovary (CHO) cells were treated with F. haepatica extracts and cell proliferation was assessed by using the indirect method for estimating cell number based on the mitochondrial activity with MTS cell proliferation reagent. We observed unexpected death of these cells when treated with F. haepatica extracts. Results and Conclusion: We now hypothesize that this parasite could be used as a medically-important trematode pathogen in cancer therapy.
- Retrospective validation of whole genome sequencing-enhanced surveillance of listeriosis in Europe, 2010 to 2015Publication . Van Walle, Ivo; Björkman, Jonas Torgny; Cormican, Martin; Dallman, Timothy; Mossong, Joël; Moura, Alexandra; Pietzka, Ariane; Ruppitsch, Werner; Takkinen, Johanna; European Listeria Wgs Typing GroupBackground and aim: The trend in reported case counts of invasive Listeria monocytogenes (Lm), a potentially severe food-borne disease, has been increasing since 2008. In 2015, 2,224 cases were reported in the European Union/European Economic Area (EU/ EEA). We aimed to validate the microbiological and epidemiological aspects of an envisaged EU/EEAwide surveillance system enhanced by routine whole genome sequencing (WGS). Methods: WGS and core genome multilocus sequence typing (cgMLST) were performed on isolates from 2,726 cases from 27 EU/ EEA countries from 2010–15. Results: Quality controls for contamination, mixed Lm cultures and sequence quality classified nearly all isolates with a minimum average coverage of the genome of 55x as acceptable for analysis. Assessment of the cgMLST variation between six different pipelines revealed slightly less variation associated with assembly-based analysis compared to reads-based analysis. Epidemiological concordance, based on 152 isolates from 19 confirmed outbreaks and a cluster cutoff of seven allelic differences, was good (sensitivity > 95% for two cgMLST schemes of 1,748 and 1,701 loci each; PPV 58–68%). The proportion of sporadic cases was slightly below 50%. Of remaining isolates, around one third were in clusters involving more than one country, often spanning several years. Detection of multi-country clusters was on average several months earlier when pooling the data at EU/EEA level, compared with first detection at national level. Conclusions: These findings provide a good basis for comprehensive EU/EEA-wide, WGS-enhanced surveillance of listeriosis. Time limits should not be used for hypothesis generation during outbreak investigations, but should be for analytical studies.
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