National Institute of Health Dr. Ricardo Jorge
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Guidance on minimum information requirements (MIR) from designing to reporting human biomonitoring (HBM)
No full textHuman biomonitoring (HBM) provides an integrated chemical exposures assessment considering all routes and sources of exposure. The accurate interpretation and comparability of biomarkers of exposure and effect depend on harmonized, quality-assured sampling, processing, and analysis. Currently, the lack of broadly accepted guidance on minimum information required for collecting and reporting HBM data, hinders comparability between studies. Furthermore, it prevents HBM from reaching its full potential as a reliable approach for assessing and managing the risks of human exposure to chemicals.
The European Chapter of the International Society of Exposure Science HBM Working Group (ISES Europe HBM working group) has established a global human biomonitoring community network (HBM Global Network) to develop a guidance to define the minimum information to be collected and reported in HBM, called the “Minimum Information Requirements for Human Biomonitoring (MIR-HBM)”. This work builds on previous efforts to harmonize HBM worldwide.
The MIR-HBM guidance covers all phases of HBM from the design phase to the effective communication of results. By carefully defining MIR for all phases, researchers and health professionals can make their HBM studies and programs are robust, reproducible, and meaningful. Acceptance and implementation of MIR-HBM Guidelines in both the general population and occupational fields would improve the interpretability and regulatory utility of HBM data. While implementation challenges remain—such as varying local capacities, and ethical and legal differences at the national levels, this initiative represents an important step toward harmonizing HBM practice and supports an ongoing dialogue among policymakers, legal experts, and scientists to effectively address these challenges. Leveraging the data and insights from HBM, policymakers can develop more effective strategies to protect public health and ensure safer working environments.No financial assistance was received in support of this work
Vigilância Laboratorial da Tuberculose em Portugal: relatório 2024
No full textRelatório de Vigilância Laboratorial da Tuberculose em Portugal referente ao ano de 2024, elaborado pelo Laboratório Nacional de Referência de Micobactérias (LNR-TB) do Departamento de Doenças Infeciosas do INSA. O documento faz a análise de possíveis relações filogenéticas de todas as estirpes de MTC (complexo Mycobacterium tuberculosis) isoladas no INSA desde 2020.
Em 2019, e com a disseminação dos métodos de sequenciação genómica de nova geração, o LNR-TB implementou metodologias baseadas em sequenciação do genoma total (WGS, whole genome sequencing) para efetuar, de forma sistemática e rotineira, a previsão de resistências e vigilância molecular dos casos de Tuberculose multirresistente (TB-RR/MR). Atualmente, tem capacidade instalada para efetuar esta análise genómica a todas as estirpes enviadas para diagnóstico, para informar, em tempo real, clínicos e Autoridades de Saúde do perfil completo de resistências aos antibacilares e relações filogenéticas associadas a eventuais cadeias de transmissão ativas.
Para além disso, e dado que se tem assistido a um ressurgimento dos casos de lepra a nível mundial, em 2023, o LNR-TB implementou um método de diagnóstico molecular de Mycobacterium leprae, que possibilita a deteção precoce dos casos, essencial para o controlo da doença e para a melhoria da resposta terapêutica
Synopsis of the molecular diagnosis of disorders of sexual development in the Department of Human Genetics of INSA: from early studies to the relevance of a multigenic approach through next-generation sequencing
No full textFlavouring group evaluation 418 (FGE. 418): 3‐[3‐(2‐isopropyl‐5‐methyl‐cyclohexyl)‐ureido]‐butyric acid ethyl ester
No full textThe EFSA Panel on Food Additives and Flavourings (FAF) was requested to evaluate the safety of 3‐[3‐(2‐isopropyl‐5‐methyl‐cyclohexyl)‐ureido]‐butyric acid ethyl ester [FL‐no: 16.136] as a new flavouring substance, in accordance with Regulation (EC) No 1331/2008. The substance has not been reported to occur naturally and it is chemically synthesised. The information provided on the manufacturing process, the composition and the stability of [FL‐no: 16.136] was considered sufficient. The chronic dietary exposure to [FL‐no: 16.136] estimated using the added portions exposure technique (APET) is calculated to be 860 μg/person per day for a 60‐kg adult and 540 μg/person per day for a 15‐kg 3‐year‐old child. [FL‐no: 16.136] did not show genotoxic effects in bacterial mutagenicity and mammalian cell micronucleus assays in vitro. No ADME studies on [FL‐no: 16.136] were provided. In a prenatal developmental toxicity study, no maternal or fetal toxicity was observed in rats dosed up to 1000 mg/kg body weight (bw) per day. In a 90‐day toxicity study in rats, no adverse effects were observed. In this study, the Panel considered that the NOAEL is 777 and 923 mg/kg bw per day (the highest dose tested) for male and female rats, respectively. Considering the lowest NOAEL of 777 mg/kg bw per day, as a reference point, adequate margins of exposure of 55 × 103 and 21 × 103 were calculated for adults and children, respectively, when considering the chronic APET dietary exposure estimates. The Panel concluded that the use of 3‐[3‐(2‐isopropyl‐5‐methylcyclohexyl)‐ureido]‐butyric acid ethyl ester [FL‐no: 16.136] as a flavouring substance under the proposed conditions of use does not raise a safety concern at the dietary exposure estimates calculated using the APET approach
Infográfico - Envelhecimento e Saúde em Portugal: Quem Somos e Como Envelhecemos
No full textTrata-se do primeiro infográfico de uma série que pretende contribuir para o conhecimento da dinâmica do envelhecimento da população portuguesa através da integração e síntese de informação sobre saúde.
Portugal é um dos países mais envelhecidos da União Europeia dos 27 (UE27), contando, desde 2022, com mais de 2 milhões e 500 mil pessoas idosas (idade igual ou superior a 65 anos), correspondendo a cerca de um quarto da população residente em Portugal.
A atualização do conhecimento demográfico e social da população idosa e do processo de envelhecimento em Portugal, bem como das respetivas necessidades de saúde e modelos de atuação adequados à sua satisfação, tendo em vista a integração da informação resultante e sua divulgação, são linhas de investigação em desenvolvimento pelo Grupo de Trabalho sobre Envelhecimento e Saúde do Departamento de Epidemiologia do INSA, com a finalidade de disponibilizar evidência de apoio à seleção e implementação de estratégias que promovam o envelhecimento saudável e sustentável
Coffee Pulp from Azores: A Novel Phytochemical-Rich Food with Potential Anti-Diabetic Properties
No full text(This article belongs to the Special Issue Bioactive Compounds in Foods: New and Novel Sources, Characterization, Strategies, and Applications)Coffee pulp, a by-product of wet coffee processing, shows significant potential in the food and health domains, but its real applications remain underexplored. This work investigated the chemical composition and bioactive properties of coffee pulp from São Miguel Island (Azores, Portugal). The studied coffee pulp exhibited high fiber content (52% dw), mostly insoluble; notable mineral levels (10.6%), mainly K, Ca, and Mg; and 6% dw of total amino acids, with hydroxyproline, aspartic acid, glutamic acid, and leucine in higher amounts. Despite containing low fat (1.6% dw), mainly saturated, it also showed considerable amounts of polyunsaturated fatty acids with a favorable n6/n3 ratio (1.40) and vitamin E (α-, β-, and γ-tocopherols). Its antioxidant capacity can be partially explained by the chlorogenic acid content (9.2 mg/g dw), and caffeine (0.98%) was present in similar amounts to those observed in some arabica coffee beans. A decrease in glucose uptake in Caco-2 cells was found, but not in fructose, suggesting selective inhibition of SGLT1 and potential antidiabetic effects. These results show that Azorean coffee pulp has potential as a sustainable and bioactive ingredient for incorporation into functional foods or dietary supplements.Acknowledgments: J.A.B.P. gives thanks to FCT/MCTES and ESF (European Social Fund) through NORTE 2020 (Programa Operacional Região Norte) for her PhD grant, ref. SFRH/BD/07329/2021. L.E.S. is grateful to LAQV-Tecnologias e Processos Limpos-UIDB/50006/2020 for her grant (REQUIMTE 2023-49). N.A. and R.C.A. thanks FCT for funding through the Scientific Employment Stimulus—Individual Call (CEECIND/08492/2022 and CEECIND/01120/2017, respectively). The authors thank Quinta do Avô João (Azores, Portugal) for kindly providing the sample for the study
HBM4EU e-waste study – Occupational exposure assessment to chromium, cadmium, mercury and lead during e-waste recycling
No full textProcessing of electronic waste (e-waste) causes the release of toxic substances which may lead to occupational exposure.
The study aimed to gather information on potential occupational exposure during e-waste recycling, with a focus on biomonitoring of chromium, cadmium, mercury and lead.
In eight European countries, 195 workers involved in the recycling of lead batteries, white goods, brown goods and metals and plastics were studied. These workers were compared to 73 controls with no direct involvement of e-waste recycling or other metal processing activities. The samples collected consisted of urine, blood and hair samples, along with personal air samples, hand wipes, settled dust samples and contextual information. Chromium, cadmium, mercury and lead was measured in urine, hair, air samples, hand wipes and settled dust; cadmium and lead in whole blood and chromium in red blood cells.
Results showed that lead exposure is of concern, with workers from all five types of e-waste showing exposure, with elevated measurements in all matrices. Internal exposure markers were positively correlated with markers of external exposure, indicating workers are not adequately protected. Exposure to mercury and cadmium was also observed but to a much lesser extent with raised cadmium concentrations in urine and blood of all workers when compared to controls and raised mercury concentrations were found in brown goods workers when compared to controls.
This study has highlighted exposure concerns when processing e-waste, particularly for lead across all waste categories studied, indicating a need for improved control measures in this sector.Highlights: - New European exposure data for chromium, cadmium, mercury and lead in e-waste workers; - Lead is the predominant exposure risk in e-waste workers, and is of a concern; - High positive correlations were found between all internal and external lead markers; - Low level mercury exposure was determined in brown goods workers; - Low-level cadmium exposure was found in all workers.This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 733032 and received co-funding from the authors organisations and/or ministries. In addition, the Finnish Work Environment fund provided co-funding (grant number 200345)
Functional genomics – the investigation of messenger RNA and its resulting protein within the scope of the Department of Human Genetics’ mission at INSA
No full textIRES-dependent translation of shorter p53 isoforms is affected by mutations in p53
No full textFull-length p53 (FLp53) is a tumour suppressor protein that has been considered a master regulator of many cellular functions. Several isoforms have been described for p53 so far and some of the functions of shorter p53 isoforms have been elucidated and they are different from and complement FLp53 activity. p53 is the most commonly mutated gene in cancer and depending on its mutation status p53 may act as a tumour suppressor or a proto-oncogene. Recently, we have shown that the most common p53 cancer mutants express a larger number and higher levels of shorter p53 protein isoforms that are translated from the mutated FLp53 mRNA (Candeias et al. EMBO R. 2016). Also, we found that cells expressing these shorter p53 isoforms exhibit mutant p53 “gain-of-function” cancer phenotypes, such as enhanced cell survival, proliferation, invasion and adhesion, altered mammary tissue architecture and invasive cell structures. Here, we found that some of these mutations affect the function of an Internal Ribosome Entry Site (IRES) in p53 mRNA. We investigated which mutations influence — by altering IRES structure and function — IRES-dependent translation of shorter p53 isoforms and to what extent this may lead to the onset or progression of some types of tumours.N/
Shorter p53 isoform expression through na Internal Ribosome Entry Site (IRES) in p53 mRNA
No full textThe tumour suppressor p53 gene is one of the most studied cancer-related genes. So far, many p53 isoforms have been identified either resulting from alternative splicing, alternative translation or alternative promoter usage. It is known that cap-dependent translation is repressed under stress conditions to preserve energy. Therefore, other translational mechanisms are required to keep the synthesis of stress-response proteins. Internal Ribosome Entry Sites (IRESes) were first discovered in viruses, and then observed in eukaryotes, as secondary structures present in RNA that were capable of recruiting ribosomes to the vicinity of an initiation codon inserted in an optimal environment allowing cap-independent translation of mRNAs. Translation of Δ40p53, a p53 isoform, is one example of this non-canonical mechanism due to the presence of an IRES near an alternative initiation codon (AUG40). Here, we will present a new IRES in p53 mRNA, including details on the localization and regulation of this IRES under normal and stress conditions.FCT/PTDC/BIM-ONC/4890/2014N/