National Health Institute Doutor Ricardo Jorge

IP, Portugal

National Health Institute Doutor Ricardo Jorge

IP, Portugal
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Coelho I.,National Health Institute Doutor Ricardo Jorge | Rego A.,National Health Institute Doutor Ricardo Jorge | Gueifao S.,National Health Institute Doutor Ricardo Jorge | Nascimento A.C.,National Health Institute Doutor Ricardo Jorge | Castanheira I.,National Health Institute Doutor Ricardo Jorge
Journal of Chemometrics | Year: 2017

Multivariate analysis was applied to test the adequacy of pooling samples versus single units as a sampling strategy to estimate dietary intake and risk assessment of chemical elements in nonalcoholic beverages. The contents of 18 minerals and trace elements (Cr, Mn, Cu, Zn, As, Se, Mo, Sr, Co, Cd, Sn, Pb Fe, Mg, Ca, P, Na, and K) in fruit juices and nectars were determined by inductively coupled plasma–optical emission spectrometry and inductively coupled plasma–mass spectrometry. Arsenic speciation was done with high-performance liquid chromatographer-inductively coupled plasma–mass spectrometry. The data obtained in pooled samples and single units were then studied by analysis of variance and least significant difference tests, Spearman's correlation, principal component analysis, and cluster analysis. Analysis of variance and least significant difference tests were used to evaluate analytical data from pooled samples and single units. Values of individual units and pooled samples were statistically different with the exception of Se (P <.05), illustrating pooling as an inadequate strategy. Spearman's correlation displayed significant correlations between the following pairs: P-K (0.924), Mo-K (0.888), Mo-P (0.876), and Ca-Mg (0.846), indicating that chemical elements could be from the same source, having a natural occurrence, or the same exposure sources. By applying principal component analysis and cluster analysis, it was possible to classify juices and nectars by fruit type and geographical origin. It was observed that 2 principal components accounted for 59% of the total variance in the data. Cluster analysis classified samples into 5 clusters. Combined chemometric tools are suited to select appropriate laboratory sampling strategies for risk assessment. Application of chemometric methods to analytical data may be useful to group samples by similar characteristics for the purpose of Total Diet Studies. Copyright © 2017 John Wiley & Sons, Ltd.

Roquette R.,Nova IMS Information Management School | Roquette R.,National Health Institute Doutor Ricardo Jorge | Painho M.,Nova IMS Information Management School | Nunes B.,National Health Institute Doutor Ricardo Jorge | Nunes B.,New University of Lisbon
Geospatial Health | Year: 2017

Cancer is a major concern among chronic diseases today. Spatial epidemiology plays a relevant role in this matter and we present here a review of this subject, including a discussion of the literature in terms of the level of geographic data aggregation, risk factors and methods used to analyse the spatial distribution of patterns and spatial clusters. For this purpose, we performed a websearch in the Pubmed and Web of Science databases including studies published between 1979 and 2015. We found 180 papers from 63 journals and noted that spatial epidemiology of cancer has been addressed with more emphasis during the last decade with research based on data mostly extracted from cancer registries and official mortality statistics. In general, the research questions present in the reviewed papers can be classified into three different sets: i) analysis of spatial distribution of cancer and/or its temporal evolution; ii) risk factors; iii) development of data analysis methods and/or evaluation of results obtained from application of existing methods. This review is expected to help promote research in this area through the identification of relevant knowledge gaps. Cancer’s spatial epidemiology represents an important concern, mainly for public health policies design aimed to minimise the impact of chronic disease in specific populations. © R. Roquette et al., 2017 Licensee PAGEPress, Italy.

PubMed | University of Groningen, University of Cincinnati, Alberta Health Services, Baylor College of Medicine and 61 more.
Type: Journal Article | Journal: Nature genetics | Year: 2016

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.

Carvalho C.L.,University of Évora | Carvalho C.L.,National Health Research Institute | Lopes de Carvalho I.,National Health Institute Doutor Ricardo Jorge | Ze-Ze L.,National Health Research Institute | And 2 more authors.
Comparative Immunology, Microbiology and Infectious Diseases | Year: 2014

In recent years, several emerging zoonotic vector-borne infections with potential impact on human health have been identified in Europe, including tularaemia, caused by Francisella tularensis. This remarkable pathogen, one of the most virulent microorganisms currently known, has been detected in increasingly new settings and in a wide range of wild species, including lagomorphs, rodents, carnivores, fish and invertebrate arthropods. Also, a renewed concern has arisen with regard to F. tularensis: its potential use by bioterrorists. Based on the information published concerning the latest outbreaks, the aim of this paper is to review the main features of the agent, its biology, immunology and epidemiology. Moreover, special focus will be given to zoonotic aspects of the disease, as tularaemia outbreaks in human populations have been frequently associated with disease in animals. © 2014 Elsevier Ltd.

Correia V.,National Health Institute Doutor Ricardo Jorge | Santos L.A.,National Health Institute Doutor Ricardo Jorge | Santos L.A.,University of Lisbon | Giria M.,University of Lisbon | And 3 more authors.
Journal of Medical Virology | Year: 2015

Neuraminidase inhibitors (NAIs) oseltamivir and zanamivir are currently the only effective antiviral drugs available worldwide for the management of influenza. The potential development of resistance is continually threatening their use, rationalizing and highlighting the need for a close and sustained evaluation of virus susceptibility. This study aimed to analyze and characterize the phenotypic and genotypic NAIs susceptibility profiles of A(H1N1)pdm09 viruses circulating in Portugal from 2009 to 2010/2011. A total of 144 cases of A(H1N1)pdm09 virus infection from community and hospitalized patients were studied, including three suspected cases of clinical resistance to oseltamivir. Oseltamivir resistance was confirmed for two of the suspected cases. Neuraminidase (NA) H275Y resistant marker was found in viruses from both cases but for one it was only present in 26.2% of virus population, raising questions about the minimal percentage of resistant virus that should be considered relevant. Cross-decreased susceptibility to oseltamivir and zanamivir (2-4 IC50 fold-change) was detected on viruses from two potentially linked community patients from 2009. Both viruses harbored the NA I223V mutation. NA Y155H mutation was found in 18 statistical non-outlier viruses from 2009, having no impact on virus susceptibility. The mutations at NA N369K and V241I may have contributed to the significantly higher baseline IC50 value obtained to oseltamivir for 2010/2011 viruses, compared to viruses from the pandemic period. These results may contribute to a better understanding of the relationship between phenotype and genotype, which is currently challenging, and to the global assessment of A(H1N1)pdm09 virus susceptibility profile and baseline level to NAIs. © 2014 Wiley Periodicals, Inc.

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