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Coelho A.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Dias A.,Hospital Prof Doutor Fernando Fonseca | Morais A.,Hospital Of Santa Maria | Nunes B.,INSA | And 4 more authors.
European Journal of Haematology | Year: 2014

Chronic haemolysis stands out as one of the hallmarks of sickle cell anaemia, a clinically heterogeneous autosomal recessive monogenic anaemia. However, the genetic architecture of this sub-phenotype is still poorly understood. Here, we report the results of an association study between haemolysis biomarkers (serum LDH, total bilirubin and reticulocyte count) and the inheritance of 41 genetic variants of ten candidate genes in a series of 99 paediatric SS patients (median current age of 9.9 yr) followed up in two general hospitals in Greater Lisboa area (median follow-up per patient of 5.0 yr). Although in a large number of tests a seemingly significant (i.e. P < 0.05) association was observed, the following ones were confirmed upon correction for multiple comparisons: (i) an increased serum LDH level was associated with haplotype 7 within VCAM1 gene; (ii) a lower total bilirubin was associated with the 3.7-kb deletion at HBA gene, rs2070744_T allele at NOS3 gene, and haplotype 9 within VCAM1 promoter; and (iii) a diminished reticulocyte count was associated with the 3.7-kb deletion at HBA, whereas an increased count was associated with rs1984112_G allele at CD36 gene. On the whole, our findings suggest a complex genetic architecture for the sickle cell anaemia haemolysis process involving multiple pathways, namely control of vascular cell adhesion, NO synthesis and erythrocyte volume and haemoglobinisation. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


Loureiro I.,New University of Lisbon | Miranda N.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Pereira Miguel J.M.,Institute Of Med Preventiva Da Faculdade Of Med Of Lisbon E Institute Nac Of Saude Doutor Ricardo Jorge
Revista Portuguesa de Saude Publica | Year: 2013

Health, a fundamental human right, is critical to human development. Traditionally it has been regarded as being mainly the responsibility of ministries of health. A better understanding of health determinants has showed that policies and actions of other social sectors are among the factors that most influence population's health. The movement of healthy cities is based in the concepts of co-production and responsibility for health. The municipalities integrating the Portuguese Network of Healthy Cities are committed to intentional planning to promote health, based in policies addressed to physical and cultural environment and to the educational process of communities, promoting participation, empowerment and equity. To promote the recognition of health impact of political decisions taken at different sectors and different levels - national, local - as well as health as a support for resilience against adversity, the project Capacity Building in Health Promotion [Projeto de Capacitação em Promoção da Saúde] - PROCAPS was decided by the National Institute of Health Dr. Ricardo Jorge, in collaboration with the Escola Nacional de Saúde Pública from the New University of Lisbon. This project started by studying the actual perception of the political members of municipalities about their role in health promotion and stimulating their responsibility in promoting the health of the populations. In this paper some results of the study and related actions taken are presented. Local policies and actions are proposed as well as processes of action-research and community based participatory research. © 2012 Escola Nacional de Saúde Pública. Published by Elsevier España, S.L. All rights reserved.


Dias M.G.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Camoes M.F.,University of Lisbon | Oliveira L.,Instituto Nacional Of Saude Doutor Ricardo Jorge
Accreditation and Quality Assurance | Year: 2012

For consistent interpretation of an analytical method result it is necessary to evaluate the confidence that can be placed in it, in the form of a measurement uncertainty estimate. The Guide to the expression of Uncertainty in Measurement issued by ISO establishes rules for evaluating and expressing uncertainty. Carotenoid determination in food is a complex analytical process involving several mass transfer steps (extraction, evaporation, saponification, etc.), making difficult the application of these guidelines. The ISO guide was interpreted for analytical chemistry by EURACHEM, which includes the possibility of using intra- and interlaboratory information. Measurement uncertainty was estimated based on laboratory validation data, including precision and method performance studies, and also, based on laboratory participation in proficiency tests. These methods of uncertainty estimation were applied to analytical results of different food matrices of fruits and vegetables. Measurement uncertainty of food carotenoid determination was 10-30% of the composition value in the great majority of cases. Higher values were found for measurements near instrumental quantification limits (e. g. 75% for β-cryptoxanthin, and 99% for lutein, in pear) or when sample chromatograms presented interferences with the analyte peak (e. g. 44% for α-carotene in orange). Lower relative expanded measurement uncertainty values (3-13%) were obtained for food matrices/analytes not requiring the saponification step. Based on these results, the saponification step should be avoided if food carotenoids are not present in the ester form. Food carotenoid content should be expressed taking into account the measurement uncertainty; therefore the maximum number of significant figures of a result should be 2. © 2012 Springer-Verlag.


PubMed | University of Lisbon and Instituto Nacional Of Saude Doutor Ricardo Jorge
Type: Journal Article | Journal: Cellular and molecular life sciences : CMLS | Year: 2016

Cellular models are important tools in various research areas related to colorectal biology and associated diseases. Herein, we review the most widely used cell lines and the different techniques to grow them, either as cell monolayer, polarized two-dimensional epithelia on membrane filters, or as three-dimensional spheres in scaffold-free or matrix-supported culture conditions. Moreover, recent developments, such as gut-on-chip devices or the ex vivo growth of biopsy-derived organoids, are also discussed. We provide an overview on the potential applications but also on the limitations for each of these techniques, while evaluating their contribution to provide more reliable cellular models for research, diagnostic testing, or pharmacological validation related to colon physiology and pathophysiology.


D'Antuono F.,Campus Universitario Of Science Degli Alimenti | Sanches-Silva A.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Costa H.S.,Instituto Nacional Of Saude Doutor Ricardo Jorge
Nutrition Bulletin | Year: 2010

The Sustainable exploitation of bioactive components from the Black Sea Area traditional foods (BaSeFood) is a 3-year collaborative research programme, funded by the 7th Framework Programme, launched on the 1st of April 2009. The project, which is coordinated by Dr Filippo D'Antuono (University of Bologna), consists of a research consortium of 13 partners, namely Italy (two), the United Kingdom, Greece, Portugal, Serbia and six Black Sea area countries: Russian Federation, Ukraine (two), Romania, Bulgaria, Turkey and Georgia. BaSeFood will contribute scientifically by studying the bioactive compounds within traditional foods of the Black Sea area using rigorous analytical and biological assays. The vast array of characteristics of traditional foods will be considered, as well as any associated consumer-perceived benefits, related to health claims, so that they can be properly understood by the consumer and exploited by food processors to produce more healthy traditional foods. © 2010 The Authors. Journal compilation © 2010 British Nutrition Foundation.


Valente A.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Albuquerque T.G.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Sanches-Silva A.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Costa H.S.,Instituto Nacional Of Saude Doutor Ricardo Jorge
Food Research International | Year: 2011

Ascorbic acid (AA) is a water-soluble vitamin mainly present in fruits and vegetables. Food Composition Databases (FCDB) provide detailed information on nutritionally important components in foods. However, in some FCDB there is a significant lack of information on vitamin C content. The aim of this study is to produce new data for FCDB by measuring the AA content in 26 types of exotic fruits and to evaluate the nutritional value of these fruits as a source of vitamin C. In this study, the analytical method used to measure ascorbic acid content is an economic, rapid and previously validated High Performance Liquid Chromatography (HPLC) method. Ascorbic acid content per 100. g of edible portion ranged between 0.925 ± 0.018. mg for kiwano and 117 ± 1.64. mg for arbutus. For all the analyzed exotic fruits and considering a mean daily consumption of 100. g/day, twelve of them provide more than 30% of the Dietary Reference Intake. About a quarter of the analyzed exotic fruits are not found in any of the five FCDB considered in this study. The worldwide global market is expanding the production and consumption of fresh fruits and vegetables, mostly exotic, increasing the need of updating the food composition databases with high quality data. The analytical results obtained in this study are an important source of reliable data to be included in the Portuguese food composition database. © 2011 Elsevier Ltd.


Goncalves B.,University of Trás os Montes e Alto Douro | Borges O.,Delegacao Regional de Agricultura do Nordeste Transmontano | Costa H.S.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Bennett R.,University of Trás os Montes e Alto Douro | And 2 more authors.
Food Chemistry | Year: 2010

The aim of this research was to study the processing effects (roasting and boiling) on primary and secondary metabolite composition of fruits from the following chestnut (Castanea sativa Mill.) cultivars (cvs.) of three Protected Designation of Origin (PDO) areas in the Trás-os-Montes e Alto Douro region (Portugal): PDO Terra Fria (cvs. Aveleira, Boaventura, Côta, Lamela and Trigueira), PDO Padrela (cvs. Judia, Lada, Longal and Negra) and PDO Soutos da Lapa (cvs. Longal and Martaínha). The cooking processes significantly (p < 0.0001) affected primary and secondary metabolite composition of the chestnuts. Roasted chestnuts had higher protein contents, insoluble and total dietary fibre and lower fat contents whilst boiled chestnuts had lower protein, but higher fat contents. Cooking increased citric acid contents, especially in roasted chestnuts. On the other hand, raw chestnuts had higher malic acid contents than cooked chestnuts. Moreover, roasted chestnuts had significantly higher gallic acid and total phenolics contents, and boiled chestnuts had higher gallic and ellagic acids contents, when compared to raw chestnuts. The present data confirms that cooked chestnuts are a good source of organic acids and phenolics and have low fat contents, properties that are associated with positive health benefits. © 2010 Elsevier Ltd. All rights reserved.


Albuquerque T.G.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Costa H.S.,Instituto Nacional Of Saude Doutor Ricardo Jorge | Castilho M.C.,University of Coimbra | Sanches-Silva A.,Instituto Nacional Of Saude Doutor Ricardo Jorge
Trends in Food Science and Technology | Year: 2011

Partially hydrogenated vegetable oils containing trans fatty acids (TFA) have been used in the food industry, due to its low cost compared with other fats and availability to extend the shelf-life of products, as well as to impart desirable characteristics to the food.A compilation of the available information on sample preparation and analytical methods for the determination of TFA in foodstuffs was the basis of the present extensive bibliographic review. This review contributes for a better understanding of the analytical approaches adopted to determine TFA and to follow the tendency over the years to enhance the knowledge toward TFA contents found in foodstuffs. © 2011 Elsevier Ltd.


PubMed | Hospital Garcia Of Orta, Hospital Of Santa Maria, Instituto Nacional Of Saude Doutor Ricardo Jorge, Hospital Of Santo Antonio Dos Capuchos and Hospital Sao Francisco Xavier
Type: | Journal: Blood cells, molecules & diseases | Year: 2016

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5-UTR of HAMP gene (c.-25G>A). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.


PubMed | University of Porto and Instituto Nacional Of Saude Doutor Ricardo Jorge
Type: | Journal: Journal of microbiological methods | Year: 2016

Cyanobacteria are phytoplanktonic organisms widely occurring in freshwaters, being frequently associated with the production of toxins, namely microcystins (MCs). MCs are produced non-ribosomally by a multienzyme complex (mcy genes). It has been reported that environmental factors, such as light intensity, can influence toxin production. The aim of this study was to assess the influence of light intensity in the transcription of the mcyA gene and corresponding production of microcystins in toxic isolates of Planktothrix agardhii, where little is known, and compare them to Microcystis aeruginosa. For that purpose, cultures were exposed to three different light intensities (4, 20 and 30 mol photons m(-2) s(-1)) for 18 days at 20 1 C. The growth was followed daily using absorbance readings. Samples were collected at each growth stage for cell counting, microcystins quantification and RNA extraction. The level of transcripts was quantified by RT-qPCR and the relative expression determined using 16S rDNA, gltA and rpoC1 as reference genes. The most stable reference genes in M. aeruginosa were rpoC1 and gltA, whereas in P. agardhii were 16S rDNA and gltA. There was a correspondence between the growth rate and light intensity in M. aeruginosa and P. agardhii. The growth rates for both species were lower at 4 and higher at 30 mol photons m(-2) s(-1). Microcystin concentration per cell was similar between light intensities in M. aeruginosa and over time, while in P. agardhii it was higher in the stationary phase at 4 mol photons m(-2) s(-1). There were differences in the expression of mcyA between the two species. In M. aeruginosa, the highest levels of expression occurred at 4 mol photons m(-2) s(-1) in the adaptation phase, whereas for P. agardhii it was at 4mol photons m(-2) s(-1) in the exponential growth phase. Our results indicate that the light intensities tested had distinct influences on the growth, microcystin production and mcyA expression levels, presenting considerable differences in M. aeruginosa and P. agardhii.

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