National Institute of Health Dr. Ricardo Jorge
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The ageing process in older adults’ narratives of family violence
No full textPurpose – The purpose of this paper is to examine, through a qualitative lens, how community elder abuse
and the ageing process are represented in the older adults’ narratives reporting abuse perpetrated by
family members.
Design/methodology/approach – A qualitative study of a convenience sample of 22 interviews from
24 older adults (two couples) aged 60 years or older who had experienced one or more types of abuse and
had sought help about the victimisation experience. A general inductive approach of thematic content
analysis was employed.
Findings – The four main emergent themes related to the passage of time or the perception of becoming old
within the process of abuse were: abuse grown old, abuse after entering later life, vulnerability to abuse and
responses to abuse. Ageing was found to be associated with an increase vulnerability to abuse and an
important element in shaping how older adults experience, report and cope with victimization. The social and
contextual issues of being older also influenced the decision of ending (or not) the abuse and the victims’
repertoire of responses.
Originality/value – Despite the little suitability of chronological age to define and delimit elder abuse,
understanding the phenomenon demands the recognition of ageing (both as a process and as a product) in
order to more accurately identify aetiology processes and develop interventions.info:eu-repo/semantics/publishedVersio
Regulatory RNAs targeted by Copy Number Variation in Autism Spectrum Disorder
No full textIntroduction: Autism Spectrum Disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with an unclear etiology. Genetic factors are estimated to account for ~50-80% of the familial ASD risk but most of the genetic determinants are still not known. Several copy number variants (CNVs) targeting ASD candidate genes explain some ASD cases. Still, further exploration of noncoding RNAs targeted by CNVs is necessary. MicroRNA (miRNA) and long noncoding RNA (lncRNA) are regulatory molecules, abundantly expressed in the brain, that play an important role during early stages of neural development. Thus, they are strong candidates for ASD. The goal of this work is to identify miRNA and lncRNA genes targeted by CNVs in a cohort of ASD patients and examine their target genes and biological pathways.
Methods: We compared the frequency of miRNA and lncRNA genes targeted by CNVs in a cohort of 2446 ASD subjects and 9649 ancestry-matched control subjects. Genetic data from ASD patients was obtained from the Autism Genome Project and the control group from the Database of Genomic Variant (DGV). Both cases and controls were quantified using the same detection method. AGP data was transformed to hg19 annotation followed by functional annotation using the most recent dataset from MIRBASE. Statistical analysis was performed using Fisher’s exact test followed by Bonferroni correction (p-value<0.05).
Results: We found 9 miRNAs exclusively targeted by CNVs in ASD subjects and 7 miRNAs more frequently targeted by CNVs in ASD subjects, when compared to controls. From these, only 2 were already known to be associated with ASD. Interestingly, we identified 4 novel miRNAs associated with ASD that were previously described to be associated with Schizophrenia, a disorder that presents some phenotypic overlap with ASD. Putative targets of these 16 miRNAs were enriched for ASD risk genes described in SFARI database. Gene enrichment analysis indicates that these genes are involved in neurodevelopmental processes, which is consistent with literature. In addition, we also found 102 novel lncRNAs more frequently targeted by CNVs in ASD.
Discussion: These results support our hypothesis that genetic variants targeting noncoding regulatory RNAs are involved in ASD pathophysiology. This innovative approach will allow the identification of novel biomarkers and drug targets in ASD, which can contribute to a better diagnosis and treatment.N/
How mRNA translation can modulate nonsense-mediated decay
No full textAbout one third of the gene mutations found in human genetic disorders, including cancer, result in premature translation-termination codons (PTCs) and the rapid degradation of the corresponding mRNAs by nonsense-mediated decay (NMD). However, we have found that human mRNAs with a PTC in close proximity to the translation initiation codon (AUG-proximal PTC) can substantially escape NMD, which contradicts the current models for this mechanism. In fact, our data support a model in which cytoplasmic poly(A)-binding protein 1 (PABPC1) is brought into close proximity with an AUG-proximal PTC via interactions with the translation initiation complexes. This proximity of PABPC1 to the AUG-proximal PTC allows PABPC1 to interact with eukaryotic release factor 3 (eRF3) with a consequent enhancement of the termination reaction and repression of the NMD response. Here, I will provide strong evidence that the eukaryotic initiation factor 3 (eIF3) is involved in delivering eIF4G-associated PABPC1 into the vicinity of the AUG-proximal PTC, and I will dissect the biochemical interactions of the eIF3 subunits in bridging PABPC1/eIF4G complex to the 40S ribosomal subunit.FCT/PTDC/BIMONC/4890/2014N/
mRNA Surveillance and Translational Control Mechanisms
No full textAbout mRNA surveillance and translational control mechanisms.N/
Exploring the Implementation of Health Impact Assessment in Portuguese Public Health System
No full textHealth Impact Assessment (HIA) is a proactive, evidence-based approach that integrates health considerations into decision-making across sectors to prevent adverse effects and promote health equity. While global interest in HIA is growing, its implementation varies by country. In Portugal, despite existing legal frameworks and some previous capacity-building efforts, HIA is not fully institutionalized, and its practice within the Public Health System (PHS) remains largely undocumented. To address this, we conducted an online survey targeting regional and local PHS professionals to assess their awareness, experience, and perceptions of the barriers and facilitators to effective HIA implementation. The results obtained from 187 valid answers gathered from the survey revealed a strikingly low level of HIA awareness and practice within the Portuguese PHS, underscoring the urgent need for improved training and capacity building. Furthermore, the survey identified strong professional interest in HIA initiatives, suggesting significant potential for developing HIA specialized educational programs. Overall, the findings call for stronger political leadership at the governmental level to establish HIA as a key tool for achieving sustainable development goals. Finally, the study emphasizes the potential for international collaboration, particularly with Portuguese-speaking countries, to adapt these insights to their own contexts.Highlights: - This is the first study in Portugal to assess the level of Health Impact Assessment awareness and its implementation within the Public Health System. - Up to almost 70% of respondents reported having no prior knowledge of HIA before the survey, and only 5% indicated their institution implement/had implemented health impact studies. - Training was identified by almost 80% of respondents as the best strategy to improve HIA implementation, highlighting the need for targeted educational initiatives. - The survey findings revealed a high level of interest in HIA capacity-building, with 76% of professionals expressing interest in specialized online training programs. - The results emphasize the importance of collaboration between the Health and Environment sectors in Portugal and suggest potential for leveraging international partnerships, particularly with Portuguese-speaking countries, to adapt these insights
Occurrence of home and leisure accidents during the COVID-19 pandemic: data from the ECOS panel survey
No full textDada a possibilidade da pandemia da COVID-19 e as medidas associadas terem alterado os padrões de risco e de utilização dos serviços de saúde, tornou-se pertinente avaliar o seu impacto na ocorrência de Acidentes Domésticos e de Lazer (ADL) na população portuguesa. Para tal, foram recolhidos dados através de um inquérito ao painel ECOS, em 2021, analisando-se as prevalências por sexo, grupo etário, região, nível de escolaridade e situação face ao trabalho.
Estimou-se que 11,2% da população sofreu pelo menos um ADL no ano anterior à entrevista. Apesar de não se terem encontrado diferenças estatisticamente significativas entre os diferentes subgrupos sociodemográficos, foi observada uma maior frequência entre indivíduos sem escolaridade ou com o ensino básico (12,4%) e entre trabalhadores por conta de outrem (45,2%), tendo, ainda, cerca da metade dos acidentes ocorrido dentro da habitação (46,3%), e sobretudo na cozinha (39,1%), seguindo-se os que ocorreram na rua (28,2%).
Dos participantes que referiram ter sofrido um ADL, as estimativas indicam que 47,6% tiveram necessidade de cuidados de saúde e, destes, 98,3% referiram ter recebido os cuidados de que necessitavam, recorrendo ao serviços de urgência do Serviço Nacional de Saúde (SNS) (62,1%). Como consequência dos ADL, 10,7% dos indivíduos faltaram ao trabalho ou à escola, sendo que 11,0% destes registaram ausências prolongadas, iguais ou superiores a 90 dias. Os resultados reforçam a importância de prever respostas adequadas aos traumatismos por ADL, na preparação de emergências de saúde pública.Given the possibility that the COVID-19 pandemic and its associated measures altered risk patterns and the use of healthcare services, it became relevant to assess their impact on the occurrence of Home and Leisure Accidents (HLA) in the Portuguese population. To this end, data collected through the ECOS panel survey were used, and prevalence estimates were analysed by sex, age group, region, educat ional level, and employment status.
It was found that 11,2% of the population experienced at least one HLA in the year preceding the interview, with no statistically significant differences observed between the various sociodemographic subgroups.
Never theless, HLAs were slightly more frequent among individuals with no education or with basic education (12,4%) and among employees (45,2%).
Around half of the accidents occurred inside the home (46,3%), particularly in the kitchen (39,1%), followed by those occurring in the street (28,2%).
Among those who had an accident, 47,6% reported healthcare needs, which were met in 98.3% of cases, predominantly through the emergency services of the National Health Service (62,1%). As a consequence of HLAs, 10,7% of individuals missed work or school, and 11,0% of these reported prolonged absences of 90 days or more. The findings highlight the importance of maintaining adequate responses to injuries resulting from HLAs, even in pandemic contexts
Assessment of the Genotoxic Hazard of Estuarine Sediments Using an Integrative Approach With LacZ Plasmid‐Based Transgenic Mice
No full textUnder the influence of multiple anthropogenic pressures, from industrial to agricultural activities, estuaries have long been regarded as particularly sensitive ecosystems to contamination. The present study aimed at investigating the genotoxic potential of a contaminated sediment sample from an urban and industrial area of the Sado Estuary, by combining the analysis of multiple endpoints in the LacZ plasmid‐based transgenic mouse model exposed for 28 days to contaminated estuarine sediment extracts through drinking water. The DNA and chromosome damaging effects were monitored in peripheral blood at 7‐day intervals using the standard and enzyme‐modified Comet assay, as well as the micronucleus assays in peripheral blood cells. After euthanasia, DNA damage was analyzed in several mouse tissues, and LacZ mutant frequencies were determined in the liver. Livers were also surveyed for histopathological analysis. A time‐dependent increase in micronuclei frequency was seen at all tested doses, in spite of no induction of DNA damage in any organ or mutation induction in the liver of exposed mice. The liver from mice exposed to sediment extracts did not reveal major alterations besides evidence of inflammation. Overall, the integration of the endpoints analyzed in the mice is suggestive of potential chronic, rather than acute, adverse effects in vivo, and points to the need for further research in the resident human population in the area. This experimental design can be used to assess the genotoxicity of complex environmental mixtures, understand how they work, and reduce costs and resources while speeding up data collection and interpretation.The authors would like to thank Edwin Zwart (RVIM, Bilthoven, The Netherlands) for support with the LacZ mutation assay and Andrew R. Collins (Oslo University, Norway) for supplying the FPG and ENDO III enzymes. The present research was funded by the Portuguese Foundation for Science and Technology (FCT) and co-financed by the European Community FEDER through the program COMPETE (project reference PTDC/SAU-ESA/100107/2008). This work was also financed by national funds from FCT in the scope of the project UIDP/04378/2020 and UIDB/04378/2020 of the Research Unit on Applied Molecular Biosciences—UCIBIO and the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB
The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG maturity level model
No full textThis article is part of the Research TopicToward a Decision-Centric Precision Public Health: Clinical, Operational, and Analytical Advances.Introduction: Genomics holds significant promise for prevention and clinical care yet integrating it into the national healthcare system (NHS) requires considerable system-wide changes. This study assessed the current stage of Italy in the use of genomics, to map critical areas for improvement and contribute to a strategic plan.
Methods: A total of 18 experts rated individually the level of maturity of the Italian NHS on a scale from 1 (lowest) to 5 (highest) using the B1MG Maturity Level Model tool. This instrument is an European matrix of 49 indicators grouped into eight domains: governance, economic aspects, ethics and legislation, public awareness, workforce skills, clinical organization, clinical guidelines, and data infrastructure. Consensus procedures were performed within each domain to finally agree on one maturity level per indicator.
Results: Despite a few national initiatives, Italy shows a local level of implementation in most indicators. Genomic medicine is considered a priority, but still lacks an updated strategy and investment plans. A higher maturity is reached for ethical and legal aspects, but there is a strong need to invest in workforce training, citizen engagement and literacy, and large-scale adoption of tools and novel technologies. Infrastructures and guidelines to improve data storage, management, analysis, interpretation, and sharing are not yet widespread available.
Discussion: Italy is at the beginning of its journey towards a sustainable implementation of genomics. An updated national strategy with coordinated actions and investment plans is needed to make progress in key areas, including personnel education, public engagement, technical infrastructure, and clinical organization.This work was supported by the Italian Ministry of Health-National Center for Disease Prevention and Control through the Italian project “Strategia Genomica italiana: istituzione di una cabina di regia a supporto dell’iniziativa europea 1+Million Genomes (1+MG) e Beyond 1+MG (B1MG) e del Coordinamento Interistituzionale per la Genomica in Sanità Pubblica” [Italian Genomics Strategy: establishment of a steering committee to support the European 1+Million Genomes (1+MG) and Beyond 1+MG (B1MG) initiative and the Interinstitutional Coordination Group for Genomics in Public Health], and the European Union—NextGenerationEU through the Italian Ministry of University and Research under PNRR—M4C2-I1.3 Project PE_00000019 "HEAL ITALIA" to Paolo Villari, Spoke 8, CUP B53C22004000006
SARS-CoV-2 Seroprevalence among hospital healthcare workers in comparison with the general population, 2021-2022
No full textOs profissionais de saúde (PS) desempenham um papel essencial na linha de frente durante emergências de saúde causadas por doenças infeciosas.
Protegê-los é crucial para garantir a sua saúde, manter a continuidade do atendimento aos pacientes e prevenir a transmissão durante a prestação de cuidados. Este estudo teve como objetivo estimar a tendência da seroprevalência de SARS-CoV-2 entre PS de uma coorte hospitalar entre maio de 2021 e junho de 2022 e compará-la com a tendência de seroprevalência na população geral com 40-49 anos. Adicionalmente, foi feita a caracterização dos PS de acordo com o seu estado de seropositividade relativa aos anticorpos IgG anti-nucleocapside (IgG Anti-N).
No âmbito de um estudo da efetividade das vacinas, os PS foram testados para deteção de anticorpos IgG anti-RBD/Spike contra o SARS-CoV-2 em três períodos: maio-junho de 2021, setembro-novembro de 2021 e maio-junho de 2022. No terceiro momento, também foram avaliados anticorpos IgG Anti-N. Para comparação com a população geral, foram usados os resultados de três fases do Inquérito Serológico Nacional à COVID-19 (ISN COVID-19): fevereiro-março de 2021, setembro-novembro de 2021 e abril-junho de 2022.
Um total de 977, 509 e 67 PS foram testados nos três momentos, com uma seroprevalência de 85%, 89% e 100%, respetivamente. Essas taxas foram semelhantes às encontradas na população geral portuguesa, exceto no primeiro período (85% versus 19% na população geral, grupo etário 40-49 anos). No terceiro momento, a seroprevalência pós-infeção (anticorpos IgG anti-nucleocápside) foi maior entre os PS do que na população geral (41% versus 27%). A idade menor e o contacto direto com pacientes com COVID-19 estavam associados à positividade para os anticorpos IgG anti-N.
A tendência crescente da seroprevalência nos PS segue a mesma tendência observada na população geral. Embora os períodos não coincidam exatamente, no 1º momento, a seroprevalência para SARS-CoV-2 mais elevada entre os PS esteve provavelmente associada à vacinação prioritária desse grupo. No 3º momento, a maior seroprevalência pós-infeção entre os PS indica um aumento na exposição e incidência de infeção nesse grupo após a onda da variante Ômicron. Considerando a diminuição da cobertura vacinal contra a COVID-19 entre os PS, é essencial continuar a monitorização da seroprevalência e a incidência de infeção por COVID-19 neste grupo.Healthcare workers (HCWs) are essential as front line responders during health emergencies caused by infectious diseases. Protecting them is crucial to ensure their health, maintain continuous patient care, and prevent transmission to patients. This study aimed to estimate the SARS-CoV-2 seroprevalence trend among HCWs from a Portuguese hospital cohort between May 2021 and July 2022 and to compare it with the seroprevalence trend in the general population aged 40-49 years.
Additionally, the characterization of HCWs with seroconversion was performed based on their positivity for anti-nucleocapsid (Ant i-N) IgG antibodies.
In the ambit of a vaccine effectiveness study, HCWs were screened for ant i-RBD/Spike IgG ant ibodies against SARS-CoV-2 in 3 moments: May-Jul2021, Sept-Nov2021, and May-Jun2022. At the last moment, Ant i-N IgG antibodies were also assessed. To compare with data on the general population, we used results from three national serological surveys (NSS) phases: Feb-March 2021; Sept-Nov2021; April-Jun2022.
A total of 977, 509 and 67 HCWs were screened in the 3 moments, and the SARS-CoV-2 seroprevalence was 85%, 89%, and 100%, respectively. These seroprevalences were similar to those found in the Portuguese general population, except for the 1st period (85% versus 18.8% in the general population, age group 40-49). At the last moment, the post-infection seroprevalence (anti-N IgG antibodies) was higher among HCWs than in the general population (41% versus 27%). A lower age and direct contact with COVID-19 patients were associated with anti-N IgG antibody positivity.
The increasing trend of seroprevalence among HCWs follows the same trend in the general population. Although the periods are not exactly coincident, in the 1st moment, higher SARS-CoV-2 seroprevalence was probably linked to priority vaccine uptake. In the 3rd moment, the higher post-infection seroprevalence among HCWs suggests a raised exposure and infection incidence in HCWs following the Omicron wave. Considering the decrease in COVID-19 vaccination coverage among HCWs, it is essential to continue monitoring seroprevalence and COVID-19 infection in this group