Browsing by Issue Date, starting with "2025-09"
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- 6th International Conference on Food Contaminants: Challenges on Emerging Contaminants and Planetary Health: Book of AbstractsPublication . Vasco, Elsa; Alvito, PaulaThe 6th International Conference on Food Contaminants (ICFC2025), focused on Challenges in Emerging Contaminants and Planetary Health, was held in person from 25–26 September 2025 at the auditorium of the Museu de Eletricidade, Casa da Luz, in Funchal, Madeira, Portugal. The conference addressed the growing challenge posed by emerging contaminants (ECs) in food and the environment, emphasising how their spread through the food chain threatens food safety and public health. Discussions explored policies to reduce exposure to food contaminants, examined the health impacts of chemical and biological contaminants—including occurrence, exposure assessment, and biomonitoring—highlighted advances in analytical methods for detecting emerging contaminants, and considered the full spectrum of their toxicity. These interconnected themes framed a comprehensive dialogue on safeguarding both human health and the wider ecosystem. This multidisciplinary meeting provided a dynamic forum for established experts and early-career researchers to exchange the latest knowledge on food contaminants and their implications for human and planetary health. The scientific programme featured one keynote lecture, five invited lectures, 14 oral presentations, 43 poster presentations, and two round-table discussions. A Best Poster Award was also presented.
- EVITA – Epidemiologia e Vigilância dos Traumatismos e Acidentes: relatório 2023Publication . Alves, Tatiana; Silva, Susana; Rodrigues, Emanuel; Braz, Paula; Aniceto, Carlos; Mexia, Ricardo; Matias Dias, CarlosRelatório EVITA – Epidemiologia e Vigilância dos Traumatismos e Acidentes relativo ao ano de 2023. O sistema EVITA é um sistema de recolha e análise de dados sobre os acidentes domésticos e de lazer que implicaram recurso às urgências das unidades do Serviço Nacional de Saúde (SNS). Em Portugal, a notificação dos acidentes domésticos e de lazer (ADL) realiza-se através do sistema de vigilância EVITA, criado em 2000 na continuidade do sistema ADELIA (Acidentes Domésticos e de Lazer – Informação Adequada), sob a coordenação do Departamento de Epidemiologia do INSA. Este sistema conta com a colaboração da entidade Serviços Partilhados do Ministério da Saúde. Os objetivos do sistema EVITA são: a) fornecer informação essencial sobre a epidemiologia dos ADL em Portugal; b) manter um sistema de vigilância que permita a caracterização dos ADL, a identificação das situações de risco, os agentes envolvidos, bem como os produtos perigosos que propiciem a ocorrência de ADL; c) manter uma base de dados disponível para a comunidade cientifica, a partir da qual seja possível realizar estudos epidemiológicos na área dos ADL, e avaliar políticas de prevenção baseadas na evidência. O presente relatório apresenta a análise descritiva dos dados recolhidos pelo sistema EVITA no decurso do ano de 2023. Evidenciam-se, dessa análise, os seguintes resultados: - Uma proporção de ADL superior no sexo feminino nos grupos etários acima dos 55 anos; - Uma frequência mais elevada de ADL ocorridos na habitação, com destaque para o sexo masculino dos 0-44 anos e para o sexo feminino a partir dos 75 anos; - A proporção de ADL ocorridos em “Escola, área institucional e recintos públicos” foi mais elevada no sexo masculino entre os 0 e os 54 anos, e a partir dos 55 anos no sexo feminino; - O “Mecanismo de lesão” mais frequente foi a “Queda”; - Cerca de 57% de todos os ADL envolveram uma “Contusão, hematoma”; - A parte do corpo lesada referida com maior frequência foram os “Membros”.
- Sitosterolemia In iberoamerican countries: 16 new cases and phenotype genotype analysisPublication . Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Medeiros, Ana Margarida; Graça, Rafael; Bañares, Virginia G.; Araujo, Maria Beatriz; Vilagut, Ferrán Trías; Soler, Cristina; Meavilla, Silvia; Toledo, Maria J. Benitez; Volpe, Camila Garcia; Reyes, Ximena; Dell'Oca, Nicolás; Martins, Paula; Marado, Diana; Vilarinho, Laura; Dias, Aureliano Jorge; Ferreira, Ana Cristina; Padeira, Gonçalo; Casañas, Marta; Alegre-González, Diana; Lozano, José Mosquera; Aguiar, Patrício; Gonçalves, Filipa Sousa; Ernaga, Ander; Apellaniz-Ruiz, Maria; Rubi, Rodrigo; Figueroa, Nahún Muñoz; Vasquez, Norma Alejandra; Valdivielso, Pedro; Bourbon, Mafalda; ElsevierBackground: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature cardiovascular disease. As happens with familial hypercholesterolemia (FH), sitosterolemia is subdiagnosed and is frequently confounded with FH, resulting in inappropriate management. This study aims to describe newly identified cases across Iberoamerican countries and to highlight the need for improved diagnostic strategies. Methods: We report 16 cases of molecularly confirmed sitosterolemia from 5 Iberoamerican countries (Argentina, Mexico, Portugal, Spain, and Uruguay), including 12 index cases and 4 relatives identified by cascade screening. Clinical, biochemical, and molecular data were collected and analyzed. β-sitosterol levels were measured when possible, and variant classification followed American College of Medical Genetics and Genomics (ACMG) guidelines with disease-specific adaptations. Results: Fifteen individuals had biallelic variants in ABCG8 and 1 had a homozygous frameshift variant in ABCG5. Ten distinct ABCG8 variants were identified, including 7 nonsense and 3 missense variants. Xanthomas were observed in 56% of cases. Most cases were initially diagnosed as FH, with a diagnostic delay of up to 30 years. Treatment with ezetimibe, alone or combined with statins, led to biochemical and clinical improvement, including xanthoma regression in some cases. Conclusion: Sitosterolemia remains underdiagnosed due to lack of systematic screening and clinical overlap with FH. Our findings highlight the importance of including ABCG5/8 in genetic testing panels and of recognizing clinical clues for early diagnosis, enabling targeted treatment and prevention of adverse outcomes. Adapted ACMG variant classification improves interpretability for ABCG5/8-related sitosterolemia.
- Whole-genome sequencing-based surveillance system for Mycobacterium tuberculosis in PortugalPublication . Pinto, Miguel; Macedo, RitaTo improve TB surveillance and diagnosis, the Portuguese National Reference Laboratory (NRL) began implementing whole-genome sequencing (WGS) for all RR/MDR-TB cases in 2019. Since 2020, this approach has been expanded to indiscriminately include all received isolates. We describe the current WGS-based surveillance system in Portugal, framed in prospective and retrospective data (n = 1171), upgraded for antimicrobial resistance (AMR) prediction and epidemiological analysis. This system relies on three main steps: QC/QA and contamination assessment, with a novel data filtering step; genotyping and AMR prediction; and dynamic SNP-based approach, maximizing variable sites under analysis. While lineage 4 was the most prevalent (84.3 %) followed by lineage 2 (9.1 %), less common EU/EEA sub-lineages (e.g., lineages 3 and 6) showcased cross-border transmissions. Molecular clusters (n = 157) displayed distinct AMR profiles and diverse possible epidemiological contexts. Among the pipeline upgrades, we highlight: i) the novel filtering step that allowed the improvement of 123 out of 128 contaminated samples; ii) tolerating missing data per site more than doubled core variable site resolution; iii) automatic maximization of shared variable sites for in-depth cluster analysis, key for consolidating genetic links in epidemiological investigation. This study highlights the importance of sustained prospective genomic surveillance towards strengthening TB management and diagnosis in Portugal.
- Physiologically based toxicokinetic models in aggregate exposure: A reviewPublication . Lamon, L.; Paini, A.; Siccardi, M.; Doyle, J.; McNamara, C.; Galea, K.S.; Ghosh, M.; Louro, Henriqueta; Silva, Maria Joao; El Yamani, N.; Dusinska, M.; Moeller, R.; Duca, R.C.; Cubadda, F.; Viegas, S.; Martins, C.; Price, P.This literature review explores the application of Physiologically Based Kinetic (PBK) models in aggregate exposure (AE) assessment across different chemical classes. It builds on the screening of 1119 publications and the identification of 40 relevant articles. The most frequently studied chemicals include volatile organic compounds and plant protection products, with metals, personal care products, persistent organic pollutants and plasticisers also represented. Most studies reported in this review are applied to human populations and build on human biomonitoring (HBM) data to enhance model reliability. However, some studies use animal models (primarily rat models) and apply cross-species extrapolation to the human AE scenario. Occupational exposure is taken into consideration as part of the AE scenario in a few studies. Many of the reviewed studies are designed in support of chemical risk assessment (CRA), illustrating the wide applicability of PBK models. The review discusses the joint role of HBM data and PBK model in AE scenarios, highlighting its importance for a reliable risk assessments. The studies identified and discussed in this review suggest a broad interpretation of AE. The diversity across case reported studies is attributed to varying interpretations and existing definitions of AE. Finally, the roles of forward and reverse dosimetry in refining AE assessments are discussed, highlighting their importance for future research. This scoping review provides a comprehensive overview of PBK model applications in addressing AE, serving as a valuable foundation for future research and development aimed at advancing human health protection towards the Next-Generation Risk Assessment (NGRA).
- European pilot interlaboratory comparison study on Mpox virus whole genome sequencingPublication . Fuchs, Jonas; Bertelli, Claire; Pillonel, Trestan; Cordeiro, Rita; Izopet, Jacques; Pasquier, Christophe; Lewandowski, Kuiama; Maks, Anastasija; Michel, Janine; Rodriguez-Sanchez, Belen; Sanches-Seco, Maria Paz; Ledesma, Juan; Sobral, Daniel; Vercauteren, Koen; de Block, Tessa; Rezende, Antonio Mauro; Brinkmann, Annika; Nitsche, Andreas; Greub, Gilbert; Panning, MarcusObjectives: Since 2022, distinct Mpox virus (MPXV) clades have been spreading across different geographic regions, causing a challenging epidemiological situation. Whole genome sequencing (WGS) proved to be instrumental for patient management and global public health. We report a pilot interlaboratory comparison study for MPXV WGS. Methods: We distributed noninfectious DNA samples, including the main MPXV clades I and II, to eight European laboratories. We included one cowpox (CPXV) sample as a specificity control. Participants were free to choose their WGS pipeline of choice to mimic a real-world scenario and were asked to report on the sequencing pipeline used, average genome coverage, and MPXV species, clade, and subclade assignments. Results: Seven of the eight invited laboratories reported results back. All participants largely identified the MPXV clades and reported high-quality genomes with minimal variations, specifically for MPXV clade IIb 2022 outbreak strains. However, reconstructed genomes showed high variability for nonclade IIb MPXV strains. The CPXV sample was correctly identified by three laboratories. Conclusions: Although results for MPXV clade IIb 2022 outbreak strains are reassuring, the inclusion of MPXV clade I and IIa strains highlights pitfalls for targeted sequencing approaches and subsequent bioinformatic analyses. Our findings underscore the need for standardized external quality assessment studies.
- Infográfico - Hipercolesterolemia Familiar 1999-2024Publication . Equipa do Estudo Português de Hipercolesterolemia FamiliarInfográfico desenvolvido no âmbito do Estudo Português de Hipercolesterolemia Familiar, que divulga os dados de Hipercolesterolemia Familiar entre 1999-2024. Coordenado e desenvolvido pelo INSA desde 1999, com a colaboração de vários clínicos de todo o país, este estudo permite identificar a causa genética da hipercolesterolemia (níveis de colesterol elevado desde o nascimento) numa família, para, com diagnóstico precoce e tratamento adequado, reduzir o seu risco cardiovascular.
- Distribution of the West Nile Virus vector, Culex pipiens, in mainland Portugal: A geospatial modelling studyPublication . Martinho, Júlia; Costa Osório, Hugo; Amaro, Fátima; Silva, Manuel; Marques Zé-Zé, Líbia Maria; Pereira Figueira Alves, Maria João; Nunes, Baltazar; Soares, PatriciaBackground: Culex pipiens, Portugal’s most abundant mosquito, is a vector for several pathogens including the West Nile virus. Understanding its spatial distribution can contribute to vector-borne diseases control and public health planning, given Portugal’s favourable climate. National-level data on its spatial distribution, especially in relation to climatic variables is limited. We aimed to predict the suitability of Culex pipiens distribution in mainland Portugal, considering climatic factors. Methods: A maximum entropy (Maxent) model was applied, using presence records for adult and larvae of Culex pipiens mosquitoes sampled across mainland Portugal between January 2017 and October 2023, as part of the REVIVE – Vector Surveillance Network program. Adults were sampled using CDC light traps and BG-Sentinel traps between May and October at random sites and year-round at point-of-entry sites. Larvae were sampled using dippers at breeding sites. Sampling bias was corrected by filtering presence records to one per 1 km2 cell grid. Climatic data, including temperature, precipitation and elevation, were used as predictors. Results: Out of 6,859 records, 354 unique sites were obtained after filtering and cell-duplicate removal. Suitable habitats seem to be primarily in the northern and central coastal regions. Temperature was the most important predictor. Convenience sampling bias may be present. Conclusions: Most West Nile virus case reports have come from southern Portugal, but Culex pipiens’s potential distribution covers the entire mainland territory, with seemingly higher distribution in the north. West Nile vector surveillance should be a priority in all regions to accurately assess transmission risk and implement effective control measures.