National Institute of Health Dr. Ricardo Jorge
Repositório Científico do Instituto Nacional de SaúdeNot a member yet
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Avaliação de conhecimentos, atitudes e práticas em relação a mosquitos enquanto vetores de doença numa comunidade estudantil em Lisboa
Get PDFIntrodução:
Os agentes infeciosos transmitidos por mosquitos vetores que provocam doenças como o dengue, Zika ou chikungunya são uma ameaça à saúde pública. Os mosquitos das espécies Aedes aegypti e Ae. albopictus são atualmente os principais vetores e responsáveis por surtos na região europeia (WHO, 2020). Torna-se crucial avaliar o conhecimento, atitudes e práticas em relação aos mosquitos e às doenças associadas, de modo a aumentar a adesão da população às medidas de controlo. Alguns exemplos destas medidas são a eliminação de criadouros domésticos, o uso de inseticidas e a aplicação da Técnica do Inseto Estéril (SIT), que consiste num método de controlo biológico com a aplicação de insetos machos estéreis em áreas alvo de intervenção, com o objetivo de suprimir a população (IAEA, 2023).
Objetivos:
Avaliar os conhecimentos, atitudes e práticas em relação aos mosquitos vetores, doenças associadas e medidas de controlo numa comunidade estudantil em Lisboa.
Metodologia:
Foi desenvolvido um questionário com recurso à ferramenta Google Forms e dividido em quatro secções: 1. Perceção sobre mosquitos na zona de residência, 2. Avaliação do conhecimento sobre mosquitos, 3. Prevenção individual e controlo vetorial e 4. Dados do participante. Este questionário foi aplicado à população alvo de uma escola de ensino superior localizada em Lisboa e divulgado em 2021 internamente via email, tendo ficado disponível à participação durante todo o mês de março. Posteriormente, foi feita uma análise descritiva dos resultados através da determinação da frequência absoluta e relativa.
Resultados:
Obteve-se um total de 140 questionários completos, dos quais 81% dos participantes correspondiam ao género feminino e 73% tinha uma idade inferior a 25 anos. Verificou-se que apenas duas pessoas acertaram todas as questões de conhecimento. Em relação à questão da técnica SIT, 86% dos participantes desconheciam esta técnica, contudo, 73% concorda totalmente com a sua aplicação. Apenas 13 participantes identificam que são os mosquitos do género feminino que picam e conhecem a técnica SIT e apenas um destes 13 participantes não concorda com a aplicação desta técnica. Em relação às práticas verificou-se que 16% dos participantes adotam medidas de proteção individual contra mosquitos e medidas de controlo nas suas residências e que cinco destes não considera estas medidas suficientes e eficazes. Outro resultado foi o facto de 7,1% dos participantes afirmarem extrema preocupação pelos mosquitos transmitirem doenças, contudo apenas cinco adotam medidas de proteção tanto individual como de controlo. Em relação ao nível de incomodidade, 89% dos participantes não sente qualquer incómodo em relação aos mosquitos e 25% dos participantes que sentem desconforto alteram as suas atividades ao ar livre.
Conclusão:
Os resultados evidenciam a importância de manter a população informada e de a integrar em atividades que visem o aumento do conhecimento em relação aos vetores e às doenças associadas, uma vez que um elevado número das doenças transmitidas por vetores pode ser evitável através de medidas de proteção e mobilização da comunidade (WHO, 2020).N/
Evolution of the risk perception of infection by COVID-19 – Evidence from the COVID-19 Barometer: Social Opinion
Get PDFSince the beginning of the COVID-19 pandemic, several non-phar-maceutical interventions (NPI) have been adopted worldwide in an attempt to keep the growing transmission of the virus under control. Several factors might influence the effectiveness of NPI. This study aimed to evaluate the evolution of the perception of the risk of infection by COVID-19 in Portugal between March 2020 and March 2022, and to identify associated factors. We used the "Covid-19 Barometer: Social Opinion" barometer, which was launched at the beginning of the pan-demic in Portugal to identify and monitor the evolution of the Portuguese population's perception of the pandemic and its impact on daily life and was online during two years. We also considered COVID-19 incidence, stringency data, COVID-19 variants’ prevalence and Google searches on COVID-19.The outcome considered was the per-ceived risk of infection by COVID-19, which was classified into low versus high/moderate. The explanatory variables from the Barometer were grouped into dimensions: general factors (socio-demographic and health-related variables), adherence to protection measures, vaccine hesitancy and coping mechanisms.Considering the nature of this study and the outcome variable, generalized linear models were used to study the temporal evolution of the considered variables – in particular, mixed effects logistic regressions. One model was fit per group of vari-ables/dimension. Preliminary results show that, linked to a higher risk perception are lower levels of education, poor health status and working full-time at the workplace (as opposed to remote working) – the last two with a growing tendency over time. On the other hand, individuals with a previous COVID-19 diagnosis and a better mental health status are more likely to perceive lower risks, a propensity that diminishes over time.Students and unemployed individuals are also more likely to have a lower perception of risk, when compared to employed individuals of the same age and sex. Additionally, there is in general a higher probabil-ity of perceiving a lower risk of infection as time progresses.Ackowledgments: This work is partially financed by
national funds through FCT – Fundação para a Ciência e
a Tecnologia under the project UIDB/00006/2020.N/
Epidemiology and genetic diversity of invasive Neisseria meningitidis strains circulating in Portugal from 2003 to 2020
Get PDFInvasive meningococcal disease (IMD) continues to be a public health problem due to its epidemic potential, affecting mostly children. We aimed to present a detailed description of the epidemiology of IMD in Portugal, including insights into the genetic diversity of Neisseria meningitidis strains. Epidemiological analysis included data from the Portuguese National Reference Laboratory of Neisseria meningitidis during 2003 to 2020. Since 2012, N. meningitidis isolates have also been assessed for their susceptibility to antibiotics and were characterized by whole genome sequencing. During 2003–2020, 1392 confirmed cases of IMD were analyzed. A decrease in the annual incidence rate was observed, ranging from 1.99 (2003) to 0.39 (2020), with an average case fatality rate of 7.1%. Serogroup B was the most frequent (69.7%), followed by serogroups C (9.7%), Y (5.7%), and W (2.6%). Genomic characterization of 329 isolates identified 20 clonal complexes (cc), with the most prevalent belonging to serogroup B cc41/44 (26.3%) and cc213 (16.3%). Isolates belonging to cc11 were predominantly from serogroups W (77.3%) and C (76.5%), whereas cc23 was dominant from serogroup Y (65.7%). Over the past 4 years (2017–2020), we observed an increasing trend of cases assigned to cc213, cc32, and cc11. Regarding antimicrobial susceptibility, all isolates were susceptible to ceftriaxone and 61.8% were penicillin-nonsusceptible, whereas 1.4% and 1.0% were resistant to ciprofloxacin and rifampicin. This is the first detailed study on the epidemiology and genomics of invasive N. meningitidis infections in Portugal, providing relevant data to public health policy makers for a more effective control of this disease.info:eu-repo/semantics/publishedVersio
ClinVar Analysis of APOB Variants Associated with Familial Hypercholesterolemia
No full textFamilial hypercholesterolemia (FH) is an autosomal semi dominant disorder of lipid metabolism characterized by elevated LDL cholesterol levels associated with an increased cardiovascular risk. FH can be caused by variants in LDLR, APOB, and PCSK9 genes. Although most of the cases are due to variants in the LDLR gene, the APOB gene is responsible for 5-10% of the cases. The number of variants in this gene has been increasing due to Next Generation Sequencing; however, for most of these variants, their effect on the LDLR cycle is not known. The aim of this work was to evaluate the APOB variants reported in ClinVar associated with familial hypercholesterolemia.
The ClinVar repository was consulted on May 2023 for this analysis, and all APOB variants submitted associated with FH were extracted. Variants submitted with no associated condition (“not specified”, “not provided”) or associated with other conditions (“Hypobetalipoproteinemia”, “Familial hypobetalipoproteinemia”, “Inborn genetic diseases”, “Cardiovascular phenotype”) were excluded. Information regarding classification, review status, and functional characterization was considered for this analysis
A total of 2586 APOB variants were identified associated with FH, most of which were reported simultaneously with another condition. A total of 844 variants were submitted only associated to FH condition. From these, the majority were missense variants (592), followed by synonymous alterations (169); 38 frameshifts and nonsense variants were found. In terms of ClinVar classification, 18 were classified as pathogenic, 8 as likely pathogenic, and 234 as likely benign. The remaining were considered variants of uncertain significance (VUS) (566) or presented conflicting interpretations of pathogenicity (18). Most APOB variants (708) presented a review status of clinical significance corresponding to one star (one submitter or multiple submitters with conflicting interpretations of evidence), with only 121 variants presenting two stars (multiple submitters with the same interpretation of the evidence); 15 variants did not present any star (submission did not include evidence). The great majority of these variants lack functional studies proving their effect.
The lack of evidence and knowledge about APOB variants compromises their correct classification and the diagnosis of FH, being crucial to share information regarding the variants between countries. Functional studies are very important to understand the effect of the variants in protein function and can contribute to changing a classification of VUS. It would be important develop specification for classification of APOB variants to for an accurate classification.N/
Encouraging greater empowerment for adolescents in consent procedures in social science research and policy projects
Get PDF(This article belongs to the Special Issue: The CO‐CREATE Project:Co‐creating policy with youth)Ana Rito, Departamento de Alimentação e Nutrição do INSA.The United Nations Convention on the Rights of the Child emphasizes the importance of allowing children and adolescents to influence decisions that are important to them following their age and maturity. This paper explores the principles, practices, and implications around using parental versus child/adolescent consent when participating in social science research and policy development. Experiences from two studies are presented: The Confronting Obesity: Co-creating policy with youth (CO-CREATE) and the Health Behaviour in School-aged Children (HBSC) study, a World Health Organization (WHO) Collaborative Cross-National study. Although parental consent may be an important gatekeeper for protecting children and adolescents from potentially harmful research participation, it may also be considered an obstacle to the empowerment of children and adolescents in case they want to share their views and experiences directly. This paper argues that evaluation of possible harm should be left to ethics committees and that, if no harm related to the research participation processes is identified and the project has a clear perspective on collaborating with the target group, adolescents from the age of 12 years should be granted the legal capacity to give consent to participate in the research project. Collaboration with adolescents in the development of the research project is encouraged.We acknowledge and thank all the young people who participated in this study. The CO-CREATE project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No. 774210.info:eu-repo/semantics/publishedVersio
Avaliação da qualidade microbiológica de amostras de alimentos prontos para consumo vendidos em instalações ambulantes na região de Lisboa
No full textEstudo de avaliação da qualidade microbiológica de alimentos prontos para consumo - Street Food. Classificação do nível da qualidade microbiológica de acordo com os Valores-Guia INSA, 2019.N/
Global DNA methylation and Reactive Oxygen Species assessment after in vitro exposure to novel cellulose nanomaterials on intestinal cells
No full textThanks to P.Alvito, R.Assunção and M.Silva(Food Safety Department, INSA) for support with the in vitro digestion.Abstract disponível em: https://omp.uv.es/index.php/PUV/catalog/book/537Innovative cellulose nanomaterials (CNMs) find applications in multiple food-related products. However, it is recognized that nanomaterials (NMs) may cause adverse effects frequently by biological mechanisms that include production of intrinsic reactive oxygen species (ROS), or epigenetic alterations, by changes in gene expression through alterations in DNA methylation. To contribute to the safety assessment of two types of micro/nanofibrillated celluloses (CMF/CNFs) derived from industrial Eucalyptus globulus kraft, intracellular ROS levels and global DNA methylation patterns were evaluated using human intestinal cell models exposed to these CNMs. A harmonized protocol for in vitro simulation of human digestion was applied to incorporate the effect of potential changes in the physicochemical properties of CNMs due to the digestion process. After exposure of intestinal cells to digested and undigested CNMs samples (concentrations from 3.1 to 200 μg/mL, 3h and 24h), ROS levels were determined using the 2,7-dichlorofluorescein diacetate probe and fluorescence detection. The global DNA methylation was assessed after 24h exposure, using the methylated DNA Quantification Kit(colorimetric, Abcam) to quantify the levels of methylated cytosines (5-methylcytosine) in CpG dinucleotides. No increased ROS were observed after exposure to CNMs with and without digestion. Conversely, the preliminary results showed significant increased methylation of DNA after exposure to the CMF, without digestion, as compared to the negative control. No effect could be observed for digested sample, possibly due to the high background of the digestion product per se. Our preliminary findings seem to suggest the occurrence of biological effects of CNMs in intestinal cells that require further investigation, as may lead to a toxic impact on gastrointestinal cells, of concern for human health.Funded by FCT/MCTES through national funds (PTDC/SAU-PUB/29481/2017; PTDC/SAUPUB/ 32587/2017 and UIDB/00009/2020; UIDP/00009/2020); NV holds a FCT/MCTES PhD grant 2020.07168.BD.info:eu-repo/semantics/publishedVersio
Familial Hypercholesterolaemia in Children and Adolescents from 48 Countries: a cross-sectional study
Get PDFEuropean Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration: complete collaboration members are listed in the appendix (pp 4–9). INSA collaboration members: Mafalda Bourbon, Ana Catarina Alves, Ana Margarida Medeiros.Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies.
Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia.
Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified.
Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life.The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration received funding from the Pfizer Independent Grant for Learning and Change 2014 (16157823) and investigator-initiated research grants to the European Atherosclerosis Society–Imperial College London from Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron.info:eu-repo/semantics/publishedVersio
Laboratory quality improvement project (ProMeQuaLab): One Health in Portuguese-speaking Countries
Get PDFA abordagem de “Uma só Saúde” é essencial para identificar, monitorizar, controlar, prevenir e erradicar as doenças transmissíveis entre o homem e os animais, permitindo uma vigilância epidemiológica eficaz. A qualidade dos dados de diagnóstico laboratorial de doenças de origem humana e ani- mal, é imprescindível para a vigilância epidemiológica de base laboratorial eficaz das zoonoses.
O ProMeQuaLab (Projeto da Melhoria da Qualidade Laboratorial) visa a ca- pacitação de técnicos no diagnóstico laboratorial, para avaliação, monitori- zação e otimização do desempenho das metodologias utilizadas, de modo a gerar informação harmonizada, padronizada e comparável, que possa ser partilhada para ser avaliada epidemiologicamente.
As atividades na área clínica humana já realizadas neste projeto desde 2015, foram alargadas à área veterinária desde 2023, com planeamento de aplica- ção de questionários para caracterizar os laboratórios veterinários, avaliar o seu nível de implementação do controlo da qualidade, identificar necessida- des de formação, e implementar melhoria da capacidade instalada e forma- ção de profissionais.
Os documentos já produzidos e os profissionais já formados no âmbito das atividades do ProMeQuaLab serão multiplicadores do conhecimento para aplicação na área veterinária.
Promover “Uma Só Saúde” exige ampliar oportunidades de formação e profis- sionais no diagnóstico laboratorial, fortalecendo laboratórios para oferecer ser- viços de alta qualidade e contribuir para promoção da saúde humana e animal.The One-Health approach is essential to identify, monitor, control, prevent and eradicate diseases communicable between humans and animals, enabling effective epidemiological surveillance. The quality of laboratory diagnostic data for diseases of human and animal origin is essential for effective laboratory-based epidemiological surveillance of zoonoses. ProMeQuaLab (Laboratory Quality Improvement Project) aims to train technicians in laboratory diagnosis to evaluate, monitor and optimize the performance of the methodologies used, in order to generate harmonized, standardized and comparable information, which can be shared for epidemiological investigation.
Activities in the human clinical area already carried out in this project since 2015, have been extended to the veterinary area since 2023, with planning to apply questionnaires to characterize veterinary laboratories, evaluate their level of implementation of quality control, identify training needs, and implement improvements in installed capacity and training of professionals.
The technical and scientific documents already produced and the profes- sionals already trained within the scope of ProMeQuaLab activities will be multipliers of knowledge for application in the veterinary field.
Promoting One Health requires expanding training opportunities and professio- nals in laboratory diagnosis, strengthening laboratories to offer high-quality services contributing to the promotion of human and animal health.info:eu-repo/semantics/publishedVersio
APOBEC3 deaminase editing in mpox virus as evidence for sustained human transmission since at least 2016
Get PDFHistorically, mpox has been characterized as an endemic zoonotic disease that transmits through contact with the reservoir rodent host in West and Central Africa. However, in May 2022, human cases of mpox were detected spreading internationally beyond countries with known endemic reservoirs. When the first cases from 2022 were sequenced, they shared 42 nucleotide differences from the closest mpox virus (MPXV) previously sampled. Nearly all these mutations are characteristic of the action of APOBEC3 deaminases, host enzymes with antiviral function. Assuming APOBEC3 editing is characteristic of human MPXV infection, we developed a dual-process phylogenetic molecular clock that-inferring a rate of ~6 APOBEC3 mutations per year-estimates that MPXV has been circulating in humans since 2016. These observations of sustained MPXV transmission present a fundamental shift to the perceived paradigm of MPXV epidemiology as a zoonosis and highlight the need for revising public health messaging around MPXV as well as outbreak management and control.Editor’s summary: In March 2022, an international epidemic of human Mpox was detected, showing that it was not solely a zoonotic infection. A hallmark of the approximately 88,000 cases that have been reported were TC>TT and GA>AA mutations in Mpox viruses, which were acquired at a surprisingly high evolutionary rate for a pox virus. Knowing that these types of mutation are a sign of activity by a host antiviral enzyme called APOBEC3, O’Toole et al. investigated whether the mutations reflected human-to-human transmission rather than repeated zoonotic spillover. Bayesian evolutionary analysis showed that Mpox virus recently diversified into several lineages in humans that display elevated numbers of mutations, signaling APOBEC exposure and sustained human-to-human transmission rather than zoonosis as the source of new cases. —Caroline AshWellcome Trust ARTIC (Collaborators Award 206298/Z/17/Z, ARTIC network) (Á.O.T.,
P.L., M.A.S., A.R.); European Research Council (grant agreement
no. 725422 – ReservoirDOCS) (P.L., M.A.S., A.R.); National
Institutes of Health (R01 AI153044) (P.L., M.A.S., A.R.); David and
Lucile Packard Foundation (M.W.); Research Foundation, Flanders–
Fonds voor Wetenschappelijk Onderzoek–Vlaanderen, G066215N,
G0D5117N and G0B9317N (P.L.); HORIZON 2020 EU grant 874850
MOOD (P.L.); HERA project (grant/2021/PHF/23776) supported
by the European Commission through the European Centre for
Disease Control and Prevention (V.B. and J.P.G.). The Nigeria Centre for Disease Control and Prevention
receives core funding from the Nigerian government.info:eu-repo/semantics/publishedVersio