National Institute of Health Dr. Ricardo Jorge
Repositório Científico do Instituto Nacional de SaúdeNot a member yet
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REVIVE 2023 and risks to public health in Portugal: surveillance of ticks and pathogens transmitted to humans
Get PDFAs carraças são um dos vetores mais importantes de agentes patogénicos
para o Homem, com impacto crescente em saúde pública em todo o mundo.
Os agentes infeciosos transmitidos por carraças incluem vírus, como o vírus
da encefalite transmitida por carraças e da febre hemorrágica Crimeia-Congo,
bactérias, tais como os agentes etiológicos da borreliose de Lyme, febre
escaro nodular, outras rickettsioses e anaplasmose humana e parasitas protozoários
que causam a babesiose. As doenças associadas a carraças estão
a emergir e reemergir sendo um dos principais fatores, identificado particularmente
no hemisfério norte, o alargamento da distribuição geográfica destes
artrópodes que funcionam como vetores. Em Portugal, a vigilância das
carraças e dos agentes infeciosos transmitidos é assegurada pela Rede de
Vigilância de Vetores (REVIVE). Neste artigo apresentam-se, de forma resumida,
os resultados das carraças colhidas em humanos e dos agentes etiológicos
detetados durante o ano de 2023. Nos 430 ixodídeos colhidos em
humanos não foram identificadas espécies exóticas. A pesquisa de borrélia,
rickettsia e CCHV por métodos moleculares foi efetuada em todos os
espécimes de carraça colhidos e identificados, tendo sido observada respetivamente
a prevalência anual de 6,7%, 32,8% e 0%. O REVIVE-carraças
contribui para o conhecimento da fauna de ixodídeos de Portugal e do seu
papel de vetor, representando a componente entomológica indispensável à
avaliação do risco de transmissão de doenças potencialmente graves dos
programas de vigilância epidemiológica.Ticks are one of the most important vectors of pathogenic agents to
humans, with a growing impact on public health worldwide. The infectious
agents transmitted by ticks include viruses, such as the tick-borne encephalitis
virus and the Crimean-Congo hemorrhagic fever virus, bacteria,
such as the causative agents of Lyme borreliosis, Mediterranean spotted
fever, other rickettsioses, and human anaplasmosis, and protozoan
parasites that cause babesiosis. Tick-borne diseases are emerging and
re-emerging, with one of the main factors, particularly identified in the
northern hemisphere, being the expansion of the geographical distribution
of these arthropod vectors. In Portugal, tick surveillance and monitoring of
the infectious agents they transmit are ensured by the Vector Surveillance
Network (REVIVE). This article briefly presents the results of ticks collected
from humans and the etiological agents detected during the year 2023. No exotic species were identified among the 430 ticks collected from humans.
The analysis for Borrelia, Rickettsia, and CCHV using molecular methods
was carried out on all collected and identified tick specimens, with an
annual prevalence of 6.7%, 32.8%, and 0%, respectively. REVIVE-ticks
contribute to the knowledge of the ixodid fauna of Portugal and their role as
vectors, representing the essential entomological component for assessing
the risk of transmission of potentially serious diseases in epidemiological
surveillance programs.info:eu-repo/semantics/publishedVersio
Relatório de Atividades 2022
No full textConselho Diretivo do INSA: Fernando de Almeida (Presidente), Cristina Abreu Santos (Vogal).Relatório de atividades de 2022 homologado.O presente instrumento de gestão do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) relativo ao ano de 2022 tem três grandes objetivos: 1) Averiguar a concretização do Quadro de Avaliação e Responsabilização (QUAR) e do Plano de Atividades (PA) de 2022, nomeadamente, avaliar a estratégia assumida através dos seus objetivos estratégicos, verificando o grau de realização dos programas e dos objetivos operacionais que foram propostos nestes documentos; 2) Disponibilizar informação institucional relativa à execução do orçamento, à alocação de recursos humanos, financeiros e técnicos; 3) Demonstrar quantitativa, e qualitativamente, a informação relativa às funções essenciais do Instituto, aos Departamentos Técnico Científicos (DTC), ao Museu da Saúde e aos Serviços de Suporte.info:eu-repo/semantics/publishedVersio
Relative vaccine effectiveness against COVID-19 hospitalisation in persons aged ≥ 65 years: results from a VEBIS network, Europe, October 2021 to July 2023
Get PDFVEBIS-Lot 4 working group: James Humphreys, Alexis Sentís, Joris Van Loenhout, Pierre Hubin, Katrine Finderup Nielsen, Chiara Sacco, Daniele Petrone, Patrizio Pezzotti, Itziar Casado, Aitziber Echeverria, Camino Trobajo-Sanmartín, Stijn Andeweg, Anja Bråthen Kristoffersen, Irina Kislaya, Patricia Soares, Carlos Dias, Ausenda Machado.Since 2021, the Vaccine Effectiveness, Burden and Impact Studies of coronavirus disease 2019 (COVID-19) and influenza (VEBIS) project monitors vaccine effectiveness (VE) in real-world conditions to inform vaccination programmes in the European Union/European Economic Area (EU/EEA) countries [1]. One project aims to monitor real-time COVID-19 VE using electronic health registries (EHR) in multiple countries, with initial findings previously published [2-4]. We report pooled VE results against hospitalisation due to COVID-19 by number of doses received and time since vaccination in a community-dwelling resident population aged ≥ 65 years between October 2021 and July 2023.info:eu-repo/semantics/publishedVersio
Anomalias Congénitas: Defeitos do Tubo Neural
Get PDFO infográfico Anomalias Congénitas: Defeitos do Tubo Neural (DTN) evidencia o facto da prevenção primária dos DNT em Portugal estar comprometida, devido à baixa proporção de mulheres que inicia a toma de ácido fólico antes da gravidez. O infográfico apresentado abrange o período 2017-2018 e tem como fonte de dados o Registo Nacional de Anomalias Congénitas – RENAC (dados de mulheres com nascimentos com AC) e a Rede Médicos-Sentinela – RMS (dados de mulheres com nascimentos sem AC).info:eu-repo/semantics/publishedVersio
Boletim Epidemiológico Observações: Vol. 13, Nº 35, jan-abr 2024
No full textObservações é uma publicação científica do INSA, IP, que visa contribuir para o conhecimento da saúde da população, os fatores que a influenciam, a decisão e a intervenção em Saúde Pública, assim como a avaliação do seu impacte na população portuguesa. Através do acesso público e gratuito a resultados científicos gerados por atividades de observação em saúde, monitorização e vigilância epidemiológica nas áreas de atuação do Instituto - Alimentação e Nutrição, Doenças Infeciosas, Genética Humana, Saúde Ambiental, Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Epidemiologia, Investigação em Serviços e Políticas de Saúde - é dada especial atenção à disseminação rápida de informação relevante para a resposta a temas de relevo para a saúde da população portuguesa, tendo como principal alvo todos os profissionais, investigadores e decisores intervenientes na área da Saúde Pública em Portugal.info:eu-repo/semantics/publishedVersio
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Get PDFBackground: Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to assess whether machine learning algorithms outperform clinical diagnostic criteria (signs, history, and biomarkers) and the recommended screening criteria in the United Kingdom in identifying individuals with FH-causing variants, presenting a scalable screening criteria for general populations.
Methods and results: Analysis included UK Biobank participants with whole exome sequencing, classifying them as having FH when (likely) pathogenic variants were detected in their LDLR, APOB, or PCSK9 genes. Data were stratified into 3 data sets for (1) feature importance analysis; (2) deriving state-of-the-art statistical and machine learning models; (3) evaluating models' predictive performance against clinical diagnostic and screening criteria: Dutch Lipid Clinic Network, Simon Broome, Make Early Diagnosis to Prevent Early Death, and Familial Case Ascertainment Tool. One thousand and three of 454 710 participants were classified as having FH. A Stacking Ensemble model yielded the best predictive performance (sensitivity, 74.93%; precision, 0.61%; accuracy, 72.80%, area under the receiver operating characteristic curve, 79.12%) and outperformed clinical diagnostic criteria and the recommended screening criteria in identifying FH variant carriers within the validation data set (figures for Familial Case Ascertainment Tool, the best baseline model, were 69.55%, 0.44%, 65.43%, and 71.12%, respectively). Our model decreased the number needed to screen compared with the Familial Case Ascertainment Tool (164 versus 227).
Conclusions: Our machine learning-derived model provides a higher pretest probability of identifying individuals with a molecular diagnosis of FH compared with current approaches. This provides a promising, cost-effective scalable tool for implementation into electronic health records to prioritize potential FH cases for genetic confirmation.FCT-Fundação para a Ciência e Tecnologia do Ministério da Ciência, Tecnologia e Ensino Superior (SFRH/BD/108503/2015).info:eu-repo/semantics/publishedVersio
Preclinical assessment of an antibiotic-free cationic surfactant-based cellulose hydrogel for sexually and perinatally transmitted infections
No full textSexually transmitted infections and urogenital-perinatal infections are significant health challenges owing to their asymptomatic nature, multidrug-resistant pathogens, and lack of effective vaccines. Surfactants are under investigation as potential antimicrobial agents and alternatives to traditional antibiotics. Here, we discovered that N-dodecylpyridinium bromide (C12PB), a cationic quaternary ammonium surfactant, has very low potential to induce antimicrobial resistance with no antibiotic cross-resistance or inflammation in vitro. Therefore, we developed a preclinical antibiotic-free cationic surfactant-based cellulose hydrogel for treating sexually transmitted infections. The C12PB-hydrogels provided sustained surfactant release, enhancing their biocompatibility and antibacterial activity without inflammation or epithelial disruption of the vaginal tract. In a preclinical model of Neisseria gonorrhoeae infection, a single application of the C12PB-hydrogel showed a 2- to 3-fold reduction in infection. This lays the foundation for the future development of C12PB-hydrogels for sexually transmitted infections, demonstrating potent antibacterial activity and minimal risk of antimicrobial resistance or inflammation.Highlights: - The C12PB-hydrogel reduces the risk of sexually transmitted infections; - Low antimicrobial resistance potential was demonstrated; -
Inflammation or epithelial disruption was not observed; - Potent against Neisseria gonorrhoeae with no vaginal microbiome alterations.Progress and potential: Our study reveals an antibiotic-free cationic surfactant-based cellulose hydrogel, the C12PB-hydrogel, demonstrating potent antibacterial activity and minimal risk of antimicrobial resistance or inflammation for treating sexually and perinatally transmitted infections. Our preclinical model showed a significant reduction in Neisseria gonorrhoeae infection with no effect on the native vaginal microbiome, representing a promising alternative treatment strategy in the face of rising antibiotic resistance and the urgent need for effective, safe antimicrobials. Our findings not only lead to safer sexual health interventions but also highlight the importance of materials science combined with biology and preclinical testing in addressing global health challenges and aligning with sustainable healthcare goals.This work was financially supported by the Foundation for Science and Technology of the Portuguese Ministry of Science and Higher Education (PTDC/BIA-MIC/31561/2017) through national funds and co-funded by FEDER under the PT2020 Partnership to A.N. and O.V.V. B.B.M., J. Conniot, and J. Conde acknowledge the European Research Council’s Starting Grant (ERC-StG-2019-848325). R.D.A.C. was supported by the FCT project PTDC/BIA-MIC/31561/2017. O.V.V. was supported by CEEC INST ref
Interventions for increasing energy efficiency in hospitals (Protocol)
No full textProtocol - InterventionThis is a protocol for a Cochrane Review (intervention). The objectives are as follows:
The main objective is to assess the effectiveness of interventions designed to increase energy efficiency in hospitals.info:eu-repo/semantics/publishedVersio
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance
No full textBackground: Implementation of clinical metagenomics and pathogen genomic surveillance can be particularly challenging due to the lack of bioinformatics tools and/or expertise. In order to face this challenge, we have previously developed INSaFLU, a free web-based bioinformatics platform for virus next-generation sequencing data analysis. Here, we considerably expanded its genomic surveillance component and developed a new module (TELEVIR) for metagenomic virus identification.
Results: The routine genomic surveillance component was strengthened with new workflows and functionalities, including (i) a reference-based genome assembly pipeline for Oxford Nanopore technologies (ONT) data; (ii) automated SARS-CoV-2 lineage classification; (iii) Nextclade analysis; (iv) Nextstrain phylogeographic and temporal analysis (SARS-CoV-2, human and avian influenza, monkeypox, respiratory syncytial virus (RSV A/B), as well as a "generic" build for other viruses); and (v) algn2pheno for screening mutations of interest. Both INSaFLU pipelines for reference-based consensus generation (Illumina and ONT) were benchmarked against commonly used command line bioinformatics workflows for SARS-CoV-2, and an INSaFLU snakemake version was released. In parallel, a new module (TELEVIR) for virus detection was developed, after extensive benchmarking of state-of-the-art metagenomics software and following up-to-date recommendations and practices in the field. TELEVIR allows running complex workflows, covering several combinations of steps (e.g., with/without viral enrichment or host depletion), classification software (e.g., Kaiju, Kraken2, Centrifuge, FastViromeExplorer), and databases (RefSeq viral genome, Virosaurus, etc.), while culminating in user- and diagnosis-oriented reports. Finally, to potentiate real-time virus detection during ONT runs, we developed findONTime, a tool aimed at reducing costs and the time between sample reception and diagnosis.
Conclusions: The accessibility, versatility, and functionality of INSaFLU-TELEVIR are expected to supply public and animal health laboratories and researchers with a user-oriented and pan-viral bioinformatics framework that promotes a strengthened and timely viral metagenomic detection and routine genomics surveillance. INSaFLU-TELEVIR is compatible with Illumina, Ion Torrent, and ONT data and is freely available at https://insaflu.insa.pt/ (online tool) and https://github.com/INSaFLU (code).This study was partially supported by the TELEVIR project, the European Union’s Horizon 2020 Research and Innovation programme under grant agreement No 773830: One Health European Joint Programme. The improvement of the computational capacity of the online tool and its integration in INSA genomic surveillance workflows was also co-funded by the European Union through the Health Emergency Preparedness and Response (HERA) grant “Grant/2021/PHF/23776″ and the project “Sustainable use and integration of enhanced infrastructure into routine genome-based surveillance and outbreak investigation activities in Portugal” (https://www.insa.min-saude.pt/category/projectos/geneo/) on behalf of EU4H programme (EU4H-2022-DGA-MS-IBA-1). The development of the findONTime tool and a few platform updates performed in 2023 were also co-financed through the DURABLE project. The DURABLE project has been co-funded by the European Union, under the EU4Health Programme (EU4H), Project no. 101102733. IZSLER participation was partially funded by the Italian national Research program no. B93C22001210001: CCM-SURVEID—Studio pilota per la sorveglianza di potenziali minacce da malattie infettive emergenti (EIDs) di origine virale mediante una piattaforma diagnostica basata sul sequenziamento metagenomico di nuova generazione (mNGS). CISA-INIA-CSIC participation was partially funded by MCIN/AEI/10.13039/501100011033 and by the EU “NextGenerationEU”/PRTR” through the Spanish project no. PLEC2021-007968: Development of New Technologies to Track Emerging Infectious Threats in Wildlife and the Environment (NEXTHREAT). Rafael Mamede was supported by the Fundação para a Ciência e Tecnologia (FCT) (grant 2020.08493.BD)
Scientific opinion on the extension of the authorisation of use of the food additive steviol glycosides (E 960a–d) and the modification of the acceptable daily intake (ADI) for steviol
No full textThe EFSA Panel on Food Additive and Flavourings (FAF Panel) evaluated the safety of proposed changes to the currently permitted uses of the food additive steviol glycosides (E 960a-d) and of a proposed modification of the current acceptable daily intake (ADI) from 4 mg/kg body weight (bw) per day to 6 or 16 mg/kg bw per day, expressed as steviol equivalents. Currently, steviol glycosides (E 960a-d) are authorised in the EU in 32 different food categories (FCs). An extension of use was proposed for four new uses within FC 7.2 'Fine bakery wares'. In addition, an increase of the maximum permitted levels (MPLs) for FC 14.1.3 'Fruit nectars' and for three uses within FC 14.1.4 'Flavoured drinks' was requested. Consequently, the Panel updated the exposure estimates using the protocol for assessing exposure to sweeteners, developed to consider the specificities related to consumers' exposure to this functional class of food additives. Considering the proposed extension of use and increase of the MPLs, together with the currently authorised uses (at the MPLs) of E 960a-d, the highest 95th percentiles of exposure are 4.1 and 6.9 mg/kg bw per day for infants and toddlers, respectively. Based on the currently available absorption, distribution, metabolism and excretion (ADME) dataset for steviol glycosides (E 960a-d), the Panel concluded that that there is insufficient justification to increase the current ADI of 4 mg/kg bw per day, expressed as steviol equivalents. With respect to the proposed extension of use and increase of the MPLs, the Panel concluded that the calculated, conservative, dietary exposure would result in an increased exceedance of the ADI for toddlers at the 95th percentile.info:eu-repo/semantics/publishedVersio