National Institute of Health Dr. Ricardo Jorge
Repositório Científico do Instituto Nacional de SaúdeNot a member yet
9086 research outputs found
Sort by
Multiparametric in vitro genotoxicity assessment of different variants of amorphous silica nanomaterials in rat alveolar epithelial cells
The hazard posed to human health by inhaled amorphous silica nanomaterials (aSiO2 NM) remains uncertain. Herein, we assessed the cyto- and genotoxicity of aSiO2 NM variants covering different sizes (7, 15, and 40 nm) and surface modifications (unmodified, phosphonate-, amino- and trimethylsilyl-modified) on rat alveolar epithelial (RLE-6TN) cells. Cytotoxicity was evaluated at 24 h after exposure to the aSiO2 NM variants by the lactate dehydrogenase (LDH) release and WST-1 reduction assays, while genotoxicity was assessed using different endpoints: DNA damage (single- and double-strand breaks [SSB and DSB]) by the comet assay for all aSiO2 NM variants; cell cycle progression and γ-H2AX levels (DSB) by flow cytometry for those variants that presented higher cytotoxic and DNA damaging potential. The variants with higher surface area demonstrated a higher cytotoxic potential (SiO2_7, SiO2_15_Unmod, SiO2_15_Amino, and SiO2_15_Phospho). SiO2_40 was the only variant that induced significant DNA damage on RLE-6TN cells. On the other hand, all tested variants (SiO2_7, SiO2_15_Unmod, SiO2_15_Amino, and SiO2_40) significantly increased total γ-H2AX levels. At high concentrations (28 µg/cm2), a decrease in G0/G1 subpopulation was accompanied by a significant increase in S and G2/M sub-populations after exposure to all tested materials except for SiO2_40 which did not affect cell cycle progression. Based on the obtained data, the tested variants can be ranked for its genotoxic DNA damage potential as follows: SiO2_7 = SiO2_40 = SiO2_15_Unmod > SiO2_15_Amino. Our study supports the usefulness of multiparametric approaches to improve the understanding on NM mechanisms of action and hazard prediction.This work was supported by the Portuguese Foundation for Science and Technology (FCT) through ERA-NET SIINN project NanoToxClass (SIINN/0001/2013). This work was also supported by the NanoBioBarriers project (POCI-01-0145-FEDER-031162), co-financed by the Operational Program for Competitiveness and Internationalization (POCI) through European Regional Development Funds (FEDER/FNR); and by the Spanish Ministry of Science and Innovation: MCIN/AEI/10.13039/501100011033 (Grant PID2020-114908GA-I00); and the Ministry of Education, Culture and Sport BEAGAL18/00142 to V. Valdiglesias. F. Brandão (SFRH/BD/101060/2014) and M.J. Bessa (SFRH/BD/12046/2016) are recipients of FCT PhD scholarships. The Doctoral Program in Biomedical Sciences of the ICBAS – University of Porto offered additional funds. S. Fraga thanks FCT for funding through program DL 57/2016 – Norma transitória (Ref. DL-57/INSA-06/2018). Thanks are also due to FCT/MCTES for the financial support to EPIUnit (UIDB/04750/2020) and ITR (LA/P/0064/2020).info:eu-repo/semantics/publishedVersio
Enhancing meat quality of weaned piglets with the dietary incorporation of Ulva lactuca and carbohydrases supplementation
Pubmed Free articleThe impact of the dietary incorporation of 7% Ulva lactuca, a green seaweed, on the quality and nutritional value of piglet’s meat was assessed. U. lactuca is rich in nutrients and bioactive compounds but its cell wall is composed of complex polysaccharides that reduce their bioavailability. Therefore, the effect of supplementing piglet diets with exogenous carbohydrases was also assessed here. A total of 40 male weaned piglets were divided into four dietary groups, each with 10 piglets: control (wheat, maize and soybean meal-based diet), UL (7% U. lactuca replacing the control diet), UL +R (UL and 0.005% Rovabio®), and UL +E (UL and 0.01% ulvan lyase). The piglets were fed the diets for 2 weeks. The results showed that incorporating U. lactuca in piglet diets did not influence most of the meat quality traits (P >0.05). However, the incorporation of U. lactuca with the commercial carbohydrase (UL +R) increased the amount of the docosahexaenoic acid (DHA; 22:6n-3) in their meat (P =0.011) compared with the control, by 54%. In addition, meat from piglets fed seaweed diets showed a nearly two-fold increase in iodine contents (P <0.001). Meat tenderness, juiciness and overall acceptability of piglets fed the control diet and the UL diet were lower than those fed the diets containing seaweed and carbohydrases (P <0.001). Overall, the findings indicate that 7% U. lactuca in the diets of weaned piglets had no major detrimental effects on meat quality and their carbohydrase supplementation has the potential to improve meat sensory traits.Funding: This research was funded by Fundação para a Ciência e a Tecnologia (FCT), Portugal, through PTDC/CAL-ZOO/30238/2017 grant, associated with a post-doc contract to M.C., and PhD fellowships to J.M. P. (SFRH/BPD/116816/2016) and D.M.R. (SFRH/BD/143992/2019). CIISA (UIDB/00276/2020), AL4AnimalS (LA/P/0059/2020) and LEAF (UIDB/04129/2020) grants, also from FCT, are also acknowledged. The authors acknowledge Teresa Costa from Indukern, Lda. (Sintra, Portugal), for the Rovabio® Excel AP kind donation. The graphical abstract was created using BioRender.com (https://biorender.com/).info:eu-repo/semantics/publishedVersio
Impact of climate change on environmental health: possible effects on One Health
O conceito One Health reconhece a interconexão entre pessoas, ani- mais, plantas e ambiente, indicando que a saúde humana está ligada a todos os seres vivos e ao ambiente em geral. Neste contexto, é fácil perceber que são muitos os fatores que podem afetar a saúde humana. Este artigo tem como objetivo apontar alguns fatores com capacidade de causar problemas de saúde ambiental, assim como despertar a consciência e sensibilizar a população, de que todos temos um papel ativo no impacto que as nossas ações têm na saúde global. A sobreexploração dos recursos naturais, as diversas e contínuas fontes de poluição e as alterações climáticas são alguns exemplos de pressões ambientais com reflexos na saúde pública. Em consequência, desen- volvem-se atualmente esforços para contornar e mitigar alguns destes danos, como sejam o recurso à reutilização de águas residuais tratadas para usos não potáveis, o controlo de compostos químicos usados por exemplo na agricultura (ex. os azóis), a aplicação de métodos de análi- se capazes de identificar a origem das contaminações, entre outros. É crucial sensibilizar a população sobre o impacto dos comportamentos individuais e coletivos na qualidade do ambiente e na saúde humana.The "One Health" concept recognizes the interconnection between people, animals, plants and the environment, indicating that human health is linked to all living beings and the environment in general. In this context, it is easy to see there are many factors that can affect human health.
This article aims to point out some factors capable of causing Environmen- tal Health problems, as well as raising awareness and sensitizing the population that we all have an active role in the impact that our actions have on global health.
The overexploitation of natural resources, the diverse and continuous sour- ces of pollution and climate change are some examples of environmental pressures with consequences for public health. As a result, efforts are currently being made to overcome and mitigate some of these damages, such as the reuse of treated wastewater for non-potable uses, the control of chemical compounds used, for example, in agriculture (e.g. azoles), the application of analysis methods capable of identifying the origin of contamination, among others.
It is crucial to raise awareness among the population about the impact of individual and collective behaviors on the quality of the environment and human health.info:eu-repo/semantics/publishedVersio
Genotypic and phenotypic characterization of pathogenic Escherichia coli, Salmonella spp., and Campylobacter spp., in free-living birds in mainland Portugal
As aves são potenciais portadoras de microrganismos patogénicos que afetam os seres humanos, e podem ser disseminadoras de perigos no ambiente de produção primária de géneros alimentícios de origem vege- tal e animal. Este trabalho teve como objetivo avaliar a ocorrência, em fezes de aves em liberdade, em Portugal, de três bactérias zoonóticas causadoras de infeções no Homem. Para tal, foi avaliada a presença de Escherichia coli (E. coli), Salmonella spp. e Campylobacter spp. em 108 amostras individuais de fezes de aves e em uma amostra em pool de 50 amostras de fezes de gaivotas. Foi efetuada a caracterização fenotípica dos isolados (serotipagem e perfis de resistência a antibióticos) e dete- tados genes específicos associados à patogenicidade e à resistência a antimicrobianos, por PCR e/ou sequenciação total do genoma (WGS). Isolados de E. coli patogénicos, Salmonella spp. e Campylobacter spp. foram detetados em 8,9%, 2,8% e 9,9% das amostras, respetivamente. A resistência a antimicrobianos foi testada em 54 isolados de E. coli, tendo sido detetada em 14 (25,9%). Onze destes isolados revelaram a presença de fatores de virulência, E.coli patogénicos. Dez dos isolados de E. coli revelaram ser resistentes a múltiplos antimicrobianos (MDR) e sete eram produtores de β-lactamases de espectro alargado (ESBL). Re- lativamente aos isolados de Salmonella spp. (n=3) e Campylobacter spp. (n=9), apenas uma estirpe de Campylobacter jejuni foi identificada como MDR. A maioria dos serotipos e/ou Sequence Types (ST) identificados já tinham sido referenciados como associados a doença humana. Estes resultados mostram que as aves que fazem parte da fauna portuguesa podem ser portadoras de bactérias patogénicas capazes de causar do- ença humana, algumas delas resistentes a antimicrobianos críticos.Birds are potential carriers of pathogens that affect humans and that may be spread in the primary production environment of foodstuffs of plant and animal origin. Aiming to evaluate the occurrence of three important bacteria that may cause human disease, in free-living birds, in Portugal, we investigated 108 individual faecal samples from free-living birds and one pooled sample of gull faeces (n=50) for the presence of Escherichia coli (E. coli), Salmonella spp. and Campylobacter spp.. Viru- lence and antimicrobial resistance (AMR) genes were detected by PCR and/or Whole Genome Sequencing (WGS), and phenotypic (serotyping and AMR profiles) characterization was performed. Overall, 8.9% of samples tested positive for pathogenic E. coli, 2.8% for Salmonella spp., and 9.9% for Campylobacter spp. AMR was performed on 54 E. coli isolates being detected in 14 (25.9%) of them. Eleven of the AMR E. coli isolates contained several virulence factors, pathogenic E. coli. Ten of the tested E. coli isolates were multidrug resistant (MDR), and seven of them were Extended-spectrum β-lactamase (ESBL) producers. Among Salmonella spp. (n=3) and Campylobacter spp. (n=9), only one strain of Campylobacter jejuni was identified as MDR. Most of the identified serotypes/sequence types (ST) had already been associated with human disease. These results show that free-living birds in Portugal may act as carriers of foodborne pathogens linked to human disease, some of them resistant to critically important antimicrobials.info:eu-repo/semantics/publishedVersio
One Health and the Cooperation with the Community of Portuguese Speaking Countries (CPLP)
O conceito One Health / Uma Só Saúde transmite uma abordagem integrada e colaborativa para a saúde humana, animal e ambiental. É o reconhecimento que a saúde de pessoas,
animais e ecossistemas estão intimamente interligados e que
a preservação da saúde de um componente influencia diretamente os outros.
Isso inclui a prevenção e controle de doenças infeciosas, vigilância epidemiológica, saúde ambiental e a promoção da
saúde em todas as suas dimensões. (...) No contexto da CPLP (Comunidade dos Países de Língua Portuguesa), o conceito One Health / Uma Só Saúde tem sido debatido e considerado como uma estratégia importante para
lidar com desafios de saúde compartilhados pelos países-membros. (...). Foi imbuído deste espírito e na linha do PECS-CPLP
2023-2027 que o Instituto Nacional de Saúde Doutor Ricardo
Jorge - Portugal (INSA) e o Instituto Nacional de Saúde Pública
de Cabo Verde (INSP), com o apoio do Secretariado Executivo
da Comunidade dos Países de Língua Oficial Portuguesa
(CPLP), organizaram, de 12 a 14 de outubro, a I Conferência
“One Health / Uma Só Saúde” da CPLP, em Cabo Verde – na
Cidade de Santa Maria - SAL.info:eu-repo/semantics/publishedVersio
Editorial for Special Issue Foodborne Pathogens: Infections and Pathogenesis
(This Editorial belongs to the Special Issue Foodborne Pathogens: Infections and Pathogenesis)Foodborne microorganisms substantially impact food safety and contribute considerably to the public health and economic burden of infectious diseases worldwide [...].info:eu-repo/semantics/publishedVersio
Morte súbita neonatal num recém-nascido com perturbação do desenvolvimento intelectual ligada ao X tipo Nascimento por delecção do gene UBE2A
Introdução: A perturbação do desenvolvimento intelectual ligada ao X (PDIX) tipo Nascimento é uma síndrome genética rara caracterizada por défice intelectual, dismorfismos craniofaciais característicos e anomalias congénitas, nomeadamente defeitos cardíacos e do tracto génito-urinário.
Descrição do caso: Recém-nascido do sexo masculino, admitido com 12 horas de vida na Unidade de Cuidados Intensivos Neonatais por hipoglicémia e dificuldade alimentar. Gestação vigiada, com diagnóstico pré-natal de agenésia renal esquerda. Parto eutócico às 36 semanas sem necessidade de manobras de reanimação e com somatometria ao nascimento adequada à idade gestacional. No exame objectivo destacava-se hipotonia axial e dismorfismos craniofaciais e dos membros (Figura 1): fendas palpebrais amendoadas, inclinadas para cima, hipertelorismo; dorso nasal côncavo, narinas antevertidas; boca larga com cantos voltados para baixo e lábios finos; pavilhões auriculares hipoplásicos; inserção proximal dos polegares; pés com primeiros dedos largos e sobreposição do segundo e terceiro dedos. Durante as primeiras duas semanas de vida apresentou quadro de hipertensão pulmonar, colestase, dificuldade alimentar e má progressão ponderal. Identificada comunicação interventricular perimembranosa, sem sinais de disfunção cardíaca. Sem outras malformações identificadas. Paragem cardiorrespiratória súbita ao 20º dia de vida, sem resposta a medidas de suporte avançado de vida. Exame anatomopatológico post-mortem não conclusivo quanto à causa de morte. O estudo genético (Array-CGH) identificou uma delecção de 386 kb na região Xq24, englobando o gene UBE2A e 6 genes contíguos, compatível com PDIX tipo Nascimento.
Conclusão: Actualmente, encontram-se descritos 58 casos de PDIX tipo Nascimento, dos quais apenas um com diagnóstico no período neonatal. Apesar de constituir uma entidade rara, apresenta um fenótipo característico, passível de ser identificado em idade precoce. O caso descrito corresponde ao primeiro relato de morte súbita neonatal num indivíduo com este síndrome, realçando a importância do reconhecimento clínico desta entidade. Um diagnóstico atempado permitirá uma abordagem clínica dirigida, o estabelecimento do prognóstico e o aconselhamento genético da família.N/
The power of 2,6-diaminopurine in correcting UGA nonsense codons in CFTR mRNA
[Comment]No abstract available.Work supported by INSA and UIDB/04046/2020 (DOI: 10.54499/UIDB/04046/2020 ) and UIDP/04046/2020 (DOI: 10.54499/UIDP/04046/2020) Centre grants from FCT, Portugal (to BioISI).info:eu-repo/semantics/publishedVersio
An integrated solution using bench spreadsheets to monitor Quality control indicators and performance in medicine laboratories
Laboratory Quality Control (LQC) in medical laboratories is a tool to monitor the procedures of pre analytical, intra analytical and post analytical phases. The data statistic analyze allow the quantification of the random errors using the variation coefficients (CV%) obtained by Internal Quality Control (IQC) and the systematic errors (bias%), from the results of External Quality Control (EQC). These results are combined to calculate the Total Error (TE) and Measurement of Uncertainty (MAU), that allows the knowledge of the precision and accuracy and follow the performance of laboratory by comparison with the quality specifications. The main objective is to present a tool as a bench spreadsheet developed in National Institute of Health Doctor Ricardo Jorge (INSA), aiming to help the national and portuguese speaking countries laboratories, to calculate the main indicators of the LQC: TE, Sigma level and MU using IQC and EQC results, in a simplified way.N/
Implementation of Internal Quality Control in Clinical Laboratories of Portuguese Speaking Countries
ProMeQuaLab (Laboratory Quality Improvement Project for Portuguese Speaking Countries) is an ongoing project started in 2015
aiming to improve the quality of laboratory results in Portuguese Speaking countries ( It focuses on training in laboratory quality
control, implementation and monitoring of quality indicators, and the organisation of a biennial congress.
In 2023 within the scope of ProMeQuaLab and in collaboration with the National Health Institute Doctor Ricardo Jorge ( and the
Faculty of Pharmacy of University of Lisbon, the Master's thesis "Development of tools and documentation for implementation of
laboratory Quality Control in Portuguese Speaking countries" is being carried out. AIMS: Development and application tools for implementation of Internal Quality Control in the areas of Clinical Chemistry and Haematology, in PLP laboratories, from February to August 2023info:eu-repo/semantics/publishedVersio