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- Association between the adrenoreceptor β2 gene and pediatric asthma severity – a study of the PACMAN cohortPublication . Caleiro, Maria Leonor; Soares, Patricia; Antunes, Marilia"Pharmacogenetics of Asthma medication in Children: Medication with Anti-Inflammatory effects" (PACMAN) is an observational retrospective pharmacy-based study carried out in 2009, in the Netherlands, aiming to investigate the effects of genetic variation on treatment response to asthma medication in children and to identify (profiles of) SNPs that characterize response phenotypes. Data on respiratory symptoms and medication use, including medication type and amount, was collected from pharmaceutical records of asthmatic children and data on the children’s sex, age, genetic traits, and ethnicity. We aimed to assess the association between asthma severity and the Arg16Glu polymorphism of the β2 adrenoreceptor gene (ADRB2). This gene is expressed in bronchial muscle cells, which is involved in the physiological response of the airway response and has been associated with clinical drug response and asthma exacerbations. We used the PACMAN data and considered the dispensing of oral corticosteroid prescriptions as a proxy of the disease severity since corticoids are commonly used in uncontrolled asthmatic states (exacerbations). We considered two different genetic models – additive and genotypic, which can be translated for analysis purposes into a numeric format, corresponding to the number of copies of the minor allele, and categorical (each genotype representing a category), respectively. We used models of the class of the Generalized Linear Mixed Models for count data with excess of zeros, namely zero-inflated and hurdle models, considering a Negative Binomial distribution to account for overdispersion. Both models included the polymorphism in the zero and count components and were adjusted for children’s baseline characteristics. In both approaches to deal with the excess of zeros, a significant effect of the polymorphism was found only in the binary component of the models. In the count component, only sex and age showed a significant effect. This points towards the existence of an effect of the polymorphism in the presence of asthma exacerbations, with not shown effect in the frequency of OCS prescription.
- Molecular characterization of a new CYP21A2 allele and classification of its pathogenicityPublication . Gomes, Susana; Saraiva, Jorge; Gonçalves, JoãoBackground: The CYP21A2 gene, coding for 21-Hydroxylase (21-OH), is located on 6p21.3 within the major histocompatibility complex, and integrated in a cluster of genes (RP1, C4A, C4B, TNXB) and pseudogenes (RP2, CYP21A1P, TNXA). This genomic region is variable in size and gene copy number. Due to the high homology between genes and their pseudogenes, recombination is common, deletions, insertions and duplications are frequent. The great diversity of this cluster and rare alleles contributes to additional difficulties on molecular analysis and pathogenicity classification. Methods: The CYP21A cluster was characterized using genomic DNA obtained from four healthy brothers (parents not available). Two long-PCR products, specific for each CYP21A2 copy of a trimodular allele (with two CYP21A2 copies), and for a normal/bimodular allele present in this family, were characterized by Sanger cycling sequencing and MLPA (MRC-Holland, P050-C1 kit). Results: The molecular studies revealed that one sister, who asked for genetic counselling, has a very rare trimodular allele, with two CYP21A2 genes. One of these genes has a deletion covering exons 4 to 7 and an insertion of exons 4 to 7 of the pseudogene (CYP21A1P) which has the pathogenic variants c.518T>A, c.710T>A, c.713T>A, c.719T>A, c.844G>T and c.923dupT, all in phase. This alteration can be described as: CYP21A2ex4_7delinsCYP21A1Pex4_7. Conclusion: The developed molecular approach, which was specifically designed for this family and included segregation analysis of all brothers, allowed the characterization of a new CYP21A2 trimodular allele that, even containing six pathogenic variants, is non-pathogenic as it also has (in phase) a normal CYP21A2 copy.
- Personalized Medicine: towards implementation in healthcarePublication . Cardoso, Maria LuisThe presentation titled "Personalised Medicine: Towards Implementation in Healthcare" explored the integral role of personalized medicine within the broader concept of Person-Centered Care. The fundamental principles guiding this approach include recognizing each individual's uniqueness, addressing their specific needs, ensuring informed consent, and involving them in decisions related to their therapies. Personalized medicine, as defined in the European Council Conclusion on personalized medicine for patients, involves characterizing individuals' phenotypes and genotypes to tailor therapeutic strategies, evaluate predisposition to diseases, and deliver timely prevention. Over the last few decades, significant advancements in genetics, including the development and application of innovative technologies, have led to a profound understanding of genetic information and molecular mechanisms underlying hereditary diseases. The impact of advances in genetic diagnostics and testing on healthcare has been substantial, resulting in more efficient and accurate testing methods. The transition from genetics to genomics has particularly influenced healthcare systems globally, giving rise to genomic medicine. The benefits of genomic medicine encompass accurate diagnosis, reduced number of medical appointments, exams and the long "diagnostic odyssey, personalized cancer treatment based on genetic profiles, improved effectiveness and reduced adverse drug reactions through pharmacogenomics, and evaluation of genetic risk profiles for chronic diseases. Genomic data has also facilitated the matching of patients with appropriate clinical trials, contributing to more equitable treatments for diverse ethnicities. The presentation emphasized that genomics is already enabling precise prediction, diagnosis, and treatment of diseases. The Declaration of Cooperation, "Towards access to at least 1 million sequenced genomes in the EU by 2022," was highlighted. Signed by the Portuguese Ministry of Health in 2018, the initiative involves 25 EU countries, the UK, and Norway. Its primary goal is to provide secure access to genomic and clinical data across Europe, fostering collaborative investigation of diseases and enhancing the competitiveness of the EU in predictive, preventive, and participatory healthcare. The strategy to achieve the 1+MG initiative includes obtaining clinical data from patients and general citizens, with the Genome of Europe Project contributing with at least 500,000 genomes. This multi-country project aims to build a collective reference genome cohort representing the genetic composition of the European population. In 2021, the Portuguese government established the multidisciplinary Commission PT-MedGen to define the roadmap for implementing the Portuguese National Strategy for Genomic Medicine. This strategy aligns with the 1+MG initiative, outlining objectives, stages, activities, goals, deadlines, expected results, and investment needs for the successful implementation of genomic medicine in Portugal.
- Exosomal microRNAs as possible biomarkers for a rare disease affecting lipidsPublication . Encarnação, Marisa; David, Hugo; Ribeiro, Isaura; Vieira, Luís; Carneiro Silva, Catarina; Martins, Esmeralda; Cardoso, Maria Teresa; Futerman, Anthony H.; Quelhas, Dulce; Alves, SandraExosomes mediate the communication between cells and the characterization of their content can provide important insights into health and disease. Their cargo includes proteins, lipids and nucleic acids (including microRNAs (miRNAs)). miRNAs regulate many cellular processes, including metabolism. (...)
- Avaliação de conhecimentos, atitudes e práticas em relação a mosquitos enquanto vetores de doença numa comunidade estudantil em LisboaPublication . Simplício, Leonor; Soares, Patricia; Anjos, João; Almeida-Silva, Marina; Osório, HugoIntrodução: 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).
- A importância da Avaliação Externa da Qualidade em Microbiologia do Ar (2010-2022)Publication . Cano, Manuela; Faria, Ana Paula; Correia, Helena; Rosa, Nuno; Almeida, Cristina; Júlio, CláudiaA legislação nacional veio impor regras de eficiência dos sistemas de climatização de edifícios que permitem melhorar o desempenho energético e garantir uma boa qualidade do ar interior, estabelecendo, entre outros, requisitos de qualidade do ar através da adoção de concentrações máximas de referência para poluentes químicos e microbiológicos (bactérias e fungos) e obrigando à realização de auditorias periódicas à qualidade de ar interior (QAI) em edifícios. Face ao aumento significativo das auditorias à QAI surgiu a necessidade de harmonizar procedimentos de amostragem/análise e encontrar soluções para a obtenção de resultados comparáveis. A Unidade de Ar e Saúde Ocupacional (UASO) implementou os procedimentos necessários à acreditação dos ensaios de acordo com o referencial da norma ISO/IEC 17025, indicador inequívoco de competência técnica. Face à inexistência de programas de avaliação externa da qualidade (AEQ), a UASO, em colaboração com o Programa Nacional de Avaliação Externa da Qualidade (PNAEQ), organizou em 2010 o programa piloto de AEQ – Microbiologia do Ar- contagem de bactérias e fungos, e em 2012 o programa de Microbiologia do Ar – Identificação de fungos, que se mantêm atualmente em funcionamento. Objetivo: Harmonização dos procedimentos e avaliação do desempenho dos Laboratórios no Programa Nacional de Avaliação externa da Qualidade em Microbiologia do Ar, entre 2010 e 2022
- Application of Cucumis melo L. peel flour in bakery productsPublication . Silva, M.A.; Albuquerque, T.G.; Alves, R.C.; Oliveira, M.B.P.P.; Costa, H.S.Cucumis melo L. is a very consumed fruit all over the world because it has excellent sensory and nutritional qualities, being a good source of bioactive compounds for humans. However, the peel and seeds are usually discarded 1,2,3. Food waste is considered a major problem with a direct impact on the economy, society and environment. The valorisation of these by-products could be an advantageous approach to face the increase in food waste since it can compromise the implementation of the concept of food sustainability. On the other hand, this valorisation would allow the development of new food products with beneficial properties for the health of the population. The aim of this study was to develop two formulations based on C. melo L. peel flour and to evaluate their nutritional composition, total phenolic content and antioxidant potential. In 2021, the C. melo L. samples were collected from melon production and distribution companies, located in Torres Vedras and Rio Maior (Portugal). The nutritional composition was analytically determined. The energy value and available carbohydrates were calculated. Antioxidant activity was determined using two different methods: 2,2-diphenyl-1-picrylhydrazyl (DPPH•) and ferric reducing antioxidant power (FRAP). Total phenolic content was also assessed by spectrophotometry and the results were expressed as gallic acid equivalents (GAE). According to the results, dietary fibre and available carbohydrates are the main constituents of the C. melo L. peel flour, 50 and 24 g/100 g, respectively. For DPPH•, 26 mg trolox equivalents/100 g were observed, while for FRAP, the value obtained was 863 mg trolox equivalents/100 g. C. melo L. peel flour presented a content of 249 mg GAE/100 g, for total phenolic compounds. The incorporation of C. melo L. peel flour allowed the development of a biscuit and a muffin with 15 and 13 g/100 g of dietary fibre, respectively. According to Regulation (EC) No 1924/2006 on nutrition and health claims, it is possible to say that the products developed can be considered high in fibre (> 6 g/100 g). In the case of the biscuit developed, the use of C. melo L. peel flour, allowed to have a content of total phenolic compounds of 250 mg GAE/100 g. Concerning the developed muffin, a total phenolic compounds content of 254 mg GAE/100 g, and 23 and 892 mg trolox equivalents/100 g for the DPPH• and FRAP method, respectively, were obtained. In conclusion, C. melo L. peel flour can be considered a good source of dietary fibre and total phenolic compounds, allowing the development of two formulations. The dietary fibre and phenolic compounds contents present in the developed food products can contribute to the valorization of C. melo L. peel flour since it is possible to nutritionally enrich different foods, reduce food waste, reduce the environmental impact and contribute to improving public health.
- Impact of renovations on EDC levels and school children's health: bridging science-policy gaps by addressing scientific uncertaintiesPublication . Hatem, G.; Salamova, A.; Haninnen, O.; Faria, A.M.; Costa, C.; Slezakova, K.; Teixeira, J.P.; Madureira, J.Building renovations may yield emissions of various air chemicals that can disrupt normal human endocrine functions. However, only a few endocrine disruptive health outcomes (e.g., respiratory, behavioural, or learning domains) have been comprehensively addressed among susceptible populations, particularly schoolchildren. This project investigates the role of school building renovations on childrenís exposure to indoor Endocrine Disrupting Chemicals (EDCs) and the associated respiratory and cognitive health risks.
- Vantagens de Participação no Programa Nacional de Avaliação Externa da Qualidade (PNAEQ)Publication . Ventura, Catarina; Cardoso, Ana; Correia, Helena; Cordeiro, Marina; Castro, Paulo; Pereira, Edna; Faria, Ana PaulaIntrodução: O Programa Nacional de Avaliação Externa da Qualidade (PNAEQ) foi implementado no Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal, em 1978. A participação é voluntária, e permite monitorizar e implementar a melhoria da qualidade analítica, e de um modo independente, garantir a qualidade dos serviços prestados. Objetivo: Apresentação das vantagens que a participação nos programas de Avaliação Externa da Qualidade (AEQ) do PNAEQ, tem para os participantes.
- Evolution of the risk perception of infection by COVID-19 – Evidence from the COVID-19 Barometer: Social OpinionPublication . Paixão, Inês; Antunes, Marília; Soares, PatriciaSince 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.