Repositório Científico do Instituto Nacional de Saúde
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Relatório de Atividades 2025
Publication . Instituto Nacional de Saúde Doutor Ricardo Jorge
O relatório de atividades do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) apresenta uma síntese das principais iniciativas, ações e projetos desenvolvidos ao longo do ano de 2025.
O principal objetivo deste documento relaciona-se com a avaliação dos resultados alcançados, a sistematização da informação relevante, bem como a identificação dos principais desafios. Reflete, igualmente, o trabalho colaborativo entre os diferentes departamentos técnico-científicos e outras unidades orgânicas e funcionais do Instituto. Adicionalmente, salientam-se os seguintes objetivos específicos: Avaliar a execução do Quadro de Avaliação e Responsabilização e do Plano de Atividades de 2025, enquadrado nos objetivos estratégicos definidos no Plano Estratégico 2024-2026, através da aferição do grau de concretização dos objetivos operacionais definidos; Disponibilizar informação institucional relativa à execução orçamental, contemplando a alocação de recursos humanos, financeiros e técnicos; Apresentar, de forma quantitativa e qualitativa, os dados referentes às funções essenciais do Instituto, dos Departamentos Técnico-Científicos, do Museu da Saúde, do Laboratório de Análises de Dopagem, das Direções de Serviços e das Áreas de Apoio à Gestão.
Towards Safer Insect-Based Feed and Food: Toxicokinetics of Cadmium, Arsenic and Lead in the Black Soldier Fly Larvae
Publication . Alvito, P.; Prodana, M.; Silva, A.R.; Mostafaie, A.; Pinto, J.; Verissimo, P.; Coelho, I.; Rego, A.; Brooks, B.; Loureiro, S.; Cardoso, D.
Insects are rich in protein, lipids, and other nutrients, and they possess an exceptionally efficient bioconversion capacity. Besides these benefits, a significant advantage, particularly within the context of a circular bioeconomy, is their ability to utilize a wide range of food sources in rearing facilities, including residual biomass, thereby avoiding competition with key food commodities (e.g., wheat and soybean). However, before utilizing alternative feedstocks such as bio-waste, it is crucial to ensure the safety of these insects as food and feed. This study aimed to assess the uptake and elimination of common contaminants—cadmium (Cd), arsenic (As), and lead (Pb)—by the larvae of black soldier fly (Hermetia illucens) from feed substrates. A two-phase bioaccumulation study was conducted: a 5-day uptake phase where larvae were fed a contaminated substrate, followed by a 5-day elimination phase with a clean substrate. The substrate used was the Gainesville diet, spiked with cadmium chloride (CdCl2), sodium arsenite (NaAsO2), and lead nitrate (Pb(NO3)2) at concentrations of 2 mg/kg for Cd and As, and 10 mg/kg for Pb, based on EU regulatory limits for feed. The control group consisted of organisms exposed to clean substrate during the 10-day experiment. A 16-hour light/8-hour dark photoperiod and a temperature of 25±2°C were maintained during the exposure. Daily sampling was carried out, followed by a 12-hour depuration time, and lyophilization. Inductively coupled plasma mass spectrometry was used for metal quantification. Data from both the uptake and elimination phases were used for toxicokinetic modelling. The kinetic bioaccumulation factors were 1.21 for As, 1.45 for Pb, and 6.13 for Cd. Results indicated that the larvae accumulated these metals at concentrations exceeding the permissible levels (2 and/or 10 mg/kg dry substrate). The highest uptake rate was for Cd, followed by As and Pb. However, larvae reached safe internal concentrations for use as food for other animals after being moved to a clean substrate during: 2 days for As, 4 days for Pb, and 5 days for Cd. Fromt the obtained results, we recommend implementing this depuration period after exposure to bio-waste, although the duration should be adapted depending on the particular contaminants involved. Toxicokinetic studies are valuable for assessing the safety of insects for feed and food, and they can be useful tools to define the conditions that will assure sustainable use of insects in bio-waste management.
Avaliação da ingestão de aditivos alimentares em adolescentes portugueses: resultados da monitorização em 2022
Publication . Nunes, Inês; Fernandes, Paulo; Vasco, Elsa
O aumento da comercialização de produtos alimentares processados reflete-se no crescimento do consumo de aditivos alimentares. O presente trabalho teve como objetivo avaliar e caracterizar a ingestão de aditivos alimentares, por adolescentes entre os 11 e os 17 anos, por comparação da Ingestão Diária Estimada (IDE) com a Dose Diária Admissível (DDA), identificando os aditivos alimentares que passam a uma fase de avaliação mais detalhada e os alimentos que mais contribuem para a ingestão.
Dos 49 aditivos presentes nos alimentos questionados no questionário de consumo alimentar online (QCAonline), 29 estão associados a indivíduos com a IDE superior à DDA. Destes, apenas sete aditivos alcançam uma percentagem acima de 1%, de indivíduos, da população total, com IDE superior à DDA. É relevante destacar que o indivíduo que registou o maior consumo (relação IDE/DDA) está associado ao aditivo E 250, com uma ingestão 11 vezes superior ao valor da DDA, sendo as salsichas o principal alimento que contribuiu para este valor.
O caso de estudo destaca a importância da monitorização regular da ingestão de aditivos alimentares, para numa primeira abordagem, identificar aqueles cuja ingestão diária estimada é superior ao limite aceitável, aditivos estes que serão numa segunda fase alvo de estudos mais refinados.
Familial Hypercholesterolaemia In Children And Adolescents: A European Atherosclerosis Society Consensus Statement
Publication . Wiegman, Albert; Bourbon, Mafalda; Freiberger, Tomas; Gidding, Samuel S; Greber-Platzer, Susanne; Groselj, Urh; Holven, Kirsten B.; Hudgins, Lisa C.; Humphries, Steve E.; Hutten, Barbara A.; Ibarretxe, Daiana; Pederiva, Cristina; Peretti, Noel; Raal, Frederick J.; Ramaswami, Uma; Sanin, Veronika; Santos, Raul D.; Steinhagen-Thiessen, Elisabeth; Watts, Gerald F.; Perkins, Rosie; Benn, Marianne; Binder, Christoph J.; Romeo, Stefano; Lennep, Jeanine E. Roeters van
Familial hypercholesterolaemia (FH) is a common genetic disorder characterized by lifelong elevated LDL cholesterol (LDL-C) concentrations. FH exists in two forms: heterozygous FH (HeFH), which affects around 1 in 300 people worldwide, and homozygous FH (HoFH), which affects around 1 in 300 000. Individuals with FH are at increased risk of premature atherosclerotic cardiovascular disease (ASCVD) and death, and those with HoFH are, if untreated, at extreme risk of ASCVD manifestations even before adulthood. Early diagnosis and treatment in childhood can extend or normalize life expectancy, but limited awareness, underdiagnosis, and undertreatment remain major challenges. This consensus statement aims to address these challenges, supported by increased knowledge of the pathogenesis of FH and the availability of an increasing range of lipid-lowering therapies (LLTs) that can be used from early ages. To increase the detection rate of FH, all countries are encouraged to establish a paediatric screening programme and, given that current diagnostic criteria often fail to identify children with an FH-causing genetic variant, revised diagnostic criteria are presented. Updated LDL-C treatment goals are proposed, and the importance of starting LLTs before puberty in children with HeFH, and, if needed, from 6 years, is highlighted. Guidance on how to manage FH is provided, including treatment algorithms for use in children with either HeFH or HoFH and a discussion on how to promote a smooth transition to adult care. Early detection and optimal treatment as advocated in this consensus statement are crucial to improving life expectancy for children and adolescents with FH.
Lynch Syndrome: An update of underlying molecular mechanisms, phenotypes and methods to classify variants of uncertain significance
Publication . Rodrigues, Paulo; Matos, Paulo; Gonçalves, João; Jordan, Peter
In 2022, colorectal cancer (CRC) was the third most common type of cancer worldwide and the second most common in Europe. CRC ranked as the second leading cause of cancer-related deaths both worldwide and in Europe, with 904,019 and 247,966 deaths, respectively. The majority of CRC cases are sporadic (60–75%); however, 10–35% of CRC are estimated to result from the interaction of heritable and environmental factors. Among these, 5–6% are caused by inherited variants in genes that predispose to the development of CRC. Among the known inherited causes, Lynch Syndrome (LS), formerly known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is the most frequent and accounts for approximately 3% of all CRC. Here we review and update on multiple aspects of LS in the context of CRC, including its genetic and molecular basis, current guidelines for molecular screening and variant classification. Furthermore, we review functional assays that have been used to determine the biological impact of genetic variants of uncertain significance (VUS) and discuss future perspectives in the field.