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  • Programa Nacional de Avaliação Externa da Qualidade - Testes Rápidos (POCT)
    Publication . Faria, Ana Paula
    Boas Práticas na utilização dos testes rápidos: Execução, Registos, Controlo de Qualidade - Agenda: 1.Definição e Conceitos 2.Objetivo 3.Controlo de Qualidade 4.Participação em programas de Avaliação Externa da Qualidade 5.Interpretação dos resultados de Avaliação Externa da Qualidade
    2020-08Other Restricted access Show more
  • Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
    Publication . Cerván-Martín, Miriam; Suazo-Sánchez, M. Irene; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; Castilla, José A.; Gonzalvo, M. Carmen; Clavero, Ana; Vicente, F. Javier; Maldonado, Vicente; Burgos, Miguel; Barrionuevo, Francisco J.; Jiménez, Rafael; Sánchez-Curbelo, Josvany; López-Rodrigo, Olga; Peraza, M. Fernanda; Pereira-Caetano, Iris; Marques, Patricia I.; Carvalho, Filipa; Barros, Alberto; Bassas, Lluís; Seixas, Susana; Gonçalves, João; Larriba, Sara; Lopes, Alexandra M.; Palomino-Morales, Rogelio J.; Carmona, F. David; Calhaz-Jorge, Carlos; Aguiar, Ana; Nunes, Joaquim; Sousa, Sandra; Graça Pinto, Maria; Correia, Sónia; Pacheco, Alberto; González, Cristina; Gómez, Susana; Amorós, David; Aguilar, Jesús; Quintana, Fernando
    Objective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic association study. Setting: Not applicable. Patient(s): Five hundred five cases (455 infertile patients diagnosed with NOA and 50 with SO) and 1,050 healthy controls from Spain and Portugal. Intervention(s): None. Main outcome measure(s): Genomic DNA extraction from peripheral blood mononuclear cells, genotyping of the SOHLH2 polymorphisms rs1328626 and rs6563386 using the TaqMan allelic discrimination technology, case-control association analyses using logistic regression models, and exploration of functional annotations in publicly available databases. Result(s): Evidence of association was observed for both rs6563386 with SO and rs1328626 with unsuccessful sperm retrieval after testicular sperm extraction (TESE-) in the context of NOA. A dominant effect of the minor alleles was suggested in both associations, either when the subset of patients with the manifestation were compared against the control group (rs6563386/SO: P=.021, odds ratio [OR] = 0.51; rs1328626/TESE-: P=.066, OR = 1.46) or against the group of patients without the manifestation (rs6563386/SO: P=.014, OR = 0.46; rs1328626/TESE-: P=.012, OR = 2.43). The haplotype tests suggested a combined effect of both polymorphisms. In silico analyses evidenced that this effect could be due to alteration of the isoform population. Conclusion(s): Our data suggest that intronic variation of SOHLH2 is associated with spermatogenic failure. The genetic effect is likely caused by different haplotypes of rs6563386 and rs1328626, which may predispose to SO or TESE- depending on the specific allelic combination.
    2020-08Journal article Restricted access Show more
  • Genotoxicity study of human astrocytes exposed to oleic acid-coated iron oxide nanoparticles
    Publication . Valdiglesias, Vanessa; Fernández-Bertólez, Natalia; Costa, Carla; Brandão, Fátima; Teixeira, Joao Paulo; Pásaro, Eduardo; Laffon, Blanca
    Iron oxide nanoparticles (ION) have attracted much attention in last decade for their utility in several biomedical applications such as magnetic resonance imaging, hyperthermia-based cancer therapy, and targeted drug/gene delivery. Particularly, previous works showed that ION can cross the blood-brain barrier, making them especially useful as diagnostic and therapeutic tools, specifically in central nervous system diseases (reviewed in Kiliç et al., 2017). Although oleic acid-coated ION (O-ION) show in general good stability and biocompatibility, toxicological studies about their effect in human nervous cells are scant so far. Neurotoxicity assessment is therefore crucial to establish safety conditions for O-ION biomedical uses. Hence, the main objective of this work was to assess the potential genotoxic damage induced on human glial cells (A172 astrocytes) by exposure to O-ION.
    2020-08Conference object Restricted access Show more
  • Completion of the sequence of the Aspergillus fumigatus partitivirus 1 genome
    Publication . Filippou, Charalampos; Coutts, Robert H. A.; Stevens, David A.; Sabino, Raquel; Kotta-Loizou, Ioly
    A Portuguese isolate of Aspergillus fumigatus was found to contain three double-stranded (ds) RNA elements ranging in size from 1.1 to 1.8 kbp and comprising the genome of a strain of Aspergillus fumigatus partitivirus 1 (AfuPV-1) previously thought to contain only the two largest dsRNA elements. The sequence of the smallest dsRNA element is described here, completing the sequence of the AfuPV-1 genome. Sequence analysis of the element revealed an open reading frame encoding a protein of unknown function similar in size and distantly related to elements previously identified in other members of the family Partitiviridae.
    2020-08Journal article Open access Show more
  • Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020
    Publication . Alm, Erik; Broberg, Eeva K; Connor, Thomas; Hodcroft, Emma B; Komissarov, Andrey B; Maurer-Stroh, Sebastian; Melidou, Angeliki; Neher, Richard A; O’Toole, Áine; Pereyaslov, Dmitriy; WHO European Region sequencing laboratories and GISAID EpiCoV group; WHO European Region sequencing laboratories and GISAID EpiCoV group
    We show the distribution of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three genomic nomenclature systems to all sequence data from the World Health Organization European Region available until 10 July 2020. We highlight the importance of real-time sequencing and data dissemination in a pandemic situation, compare the nomenclatures and lay a foundation for future European genomic surveillance of SARS-CoV-2.
    2020-08Journal article Open access Show more
  • Burden of disease associated with dietary exposure to carcinogenic aflatoxins in Portugal using human biomonitoring approach
    Publication . Martins, Carla; Vidal, Arnau; De Boevre, M.; De Saeger, Sarah; Nunes, Carla; Torres, Duarte; Goios, A.; Lopes, Carla; Alvito, Paula; Assunção, Ricardo
    Human biomonitoring is an important tool to assess human exposure to chemicals, contributing to describe trends of exposure over time and to identify population groups that could be under risk. Aflatoxins are genotoxic and carcinogenic food contaminants causing hepatocellular carcinoma, the third leading cause of cancer deaths worldwide. In Portugal, scarce data are available regarding exposure to aflatoxins and no previous study used human biomonitoring data to comprehensively characterize the associated burden of disease. 24 h urine and first-morning urine paired samples were collected by 94 participants and were analyzed by liquid chromatography–tandem mass spectrometry for the quantitative determination of aflatoxins (B1, B2, G1, G2 and M1). Deterministic and probabilistic models were developed to assess the Portuguese exposure to aflatoxins and to estimate the health impact of this exposure, estimating the attributed Disability-Adjusted Life Years (DALYs). Aflatoxins were detected in a maximum of 13% (AFB1), 16% (AFB2), 1% (AFG1), 2% (AFG2) and 19% (AFM1) of the urine samples. Data obtained through the probabilistic approach revealed an estimated mean probable daily intake of 13.43 ng/kg body weight per day resulting in 0.13 extra cases of hepatocellular carcinoma, corresponding to mean annual DALYs of 172.8 for the Portuguese population (10 291 027 inhabitants). The present study generated for the first time and within a human biomonitoring study, reliable and crucial data to characterize the burden associated to the exposure to aflatoxins of the Portuguese population. The obtained results constitute an imperative support to risk managers in the establishment of preventive policy measures that contribute to ensure public health protection.
    2020-08Journal article Restricted access Show more
  • Assessment of genotoxic effects of titanium dioxide nanoparticles on different human cell types
    Publication . Fernández-Bertólez, Natalia; Brandao, Fátima; Rosário, Fernanda; Bessa, Maria João; Fraga, Sónia; Pásaro, Eduardo; Teixeira, Joao Paulo; Costa, Carla; Laffon, Blanca; Vanessa, Valdiglesias
    The main objective of the present work was to assess the cellular uptake and potential genotoxicity (micronuclei induction) of TiO2 NPs on four diverse human cell lines.
    2020-08Conference object Restricted access Show more
  • Heat-related mortality at the beginning of the twenty-first century in Rio de Janeiro, Brazil
    Publication . Geirinhas, João L.; Russo, Ana; Libonati, Renata; Trigo, Ricardo M.; Castro, Lucas C.O.; Peres, Leonardo F.; Magalhães, Mônica de Avelar F.M.; Nunes, Baltazar
    Temperature record-breaking events, such as the observed more intense, longer-lasting, and more frequent heat waves, pose a new global challenge to health sectors worldwide. These threats are of particular interest in low-income regions with limited investments in public health and a growing urban population, such as Brazil. Here, we apply a comprehensive interdisciplinary climate-health approach, including meteorological data and a daily mortality record from the Brazilian Health System from 2000 to 2015, covering 21 cities over the Metropolitan Region of Rio de Janeiro. The percentage of absolute mortality increase due to summer extreme temperatures is estimated using a negative binomial regression modeling approach and maximum/minimum temperature-derived indexes as covariates. Moreover, this study assesses the vulnerability to thermal stress for different age groups and both genders and thoroughly analyzes four extremely intense heat waves during 2010 and 2012 regarding their impacts on the population. Results showed that the highest absolute mortality values during heat-related events were linked to circulatory illnesses. However, the highest excess of mortality was related to diabetes, particularly for women within the elderly age groups. Moreover, results indicate that accumulated heat stress conditions during consecutive days preferentially preceded by persistent periods of moderate-temperature, lead to higher excess mortality rather than sporadic single hot days. This work may provide directions in human health policies related to extreme climate events in large tropical metropolitan areas from developing countries, contributing to altering the historically based purely reactive response.
    2020-08Journal article Restricted access Show more
  • Functional effects of differentially expressed microRNAs in A549 cells exposed to MWCNT-7 or crocidolite
    Publication . Ventura, Célia; Vieira, Luís; Silva, Catarina; Sousa-Uva, António; Silva, Maria João
    Multi-walled carbon nanotubes (MWCNT) are engineered nanomaterials widely used in industrial and biomedical applications. Yet, MWCNT inhalation may induce pulmonary adverse effects, and the MWCNT-7 (Mitsui-7) has been classified as possibly carcinogenic to humans. However, its molecular mechanisms of action are poorly understood and there are no biomarkers of exposure for occupational monitoring. Several pulmonary diseases, including lung cancer, have been associated with alterations in microRNA expression that are used as biomarkers of disease progression, and differentially-expressed microRNAs (DE miRNAs) can also allow understanding the molecular effects induced by a toxicant. In this study, we identify DE miRNAs in A549 alveolar epithelial cells following 24 h exposure to MWCNT-7 or crocidolite, as well as their enriched cellular functional pathways. These indicate that both materials change cell survival, differentiation and proliferative properties under the influence of AMPK, FoxO, TGF-β and Hippo pathways, and their metabolic activity and cell-to-cell communication. In addition, MWCNT-7 affects the actin cytoskeleton, ubiquitin mediated proteolysis, and ECM-receptor interactions; crocidolite the PI3K-Akt and mTOR pathways, endocytosis, and central carbon metabolism. Since deregulation of these pathways may be related to carcinogenesis, an interaction network of DE miRNAs and corresponding target cancer-related genes was constructed, highlighting the carcinogenic potential of Mitsui-7.
    2020-08-01Journal article Restricted access Show more
  • Aspergillosis in albatrosses
    Publication . Melo, Aryse Martins; Silva Filho, Rodolfo Pinho da; Poester, Vanice Rodrigues; Fernandes, Cristina Gevehr; von Groll, Andrea; Stevens, David A; Sabino, Raquel; Xavier, Melissa Orzechowski
    Aspergillosis is a respiratory fungal disease of importance in captive marine birds. The aim of this study was to describe the occurrence of aspergillosis in Thalassarche melanophris during rehabilitation events and to identify the etiological agent. All the albatrosses that were received for rehabilitation and died within a 2-year period were included in the study. The proportionate mortality rate caused by aspergillosis was 21.4% (3/14). One of the etiological agents was Aspergillus flavus/oryzae lineage, and the other was A. fumigatus sensu stricto. Our study suggests that aspergillosis can act as a limiting factor in the rehabilitation of albatrosses.
    2020-08-01Journal article Restricted access Show more