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- Mapping susceptibility to air pollution and its association with birth defects: a tool for public health interventionPublication . Aniceto, Carlos; Braz, Paula; Machado, Ausenda; Dias, Carlos MatiasEpidemiological studies evaluating the relation of environmental air pollution (AP) and birth defect (BD) are relevant to public health. Some limitations on these studies may derive from multiple factors contributing to the spatial variation of AP. This study aimed to integrate multifactorial AP indicators into an index and explore its application in a case-control study conducted in Portugal between 2016 and 2021. Spatial multicriteria analysis was employed to identify areas susceptible to AP. Variables included: (i) Euclidean distance to industrial units; (ii) kernel estimation of industrial units density; (iii) land occupation; (iv) Euclidean distance to main roads; and (v) areas conductive to radiation fog formation. Variables were classified into high, moderate, and low susceptibility. An AP susceptibility map was generated using the weighted linear combination method, with the analytic hierarchy process assigning weights to the variables. Georeferenced BD cases and controls were overlaid with environmental exposure variables and the AP index. Three AP susceptibility areas were identified: consolidated urban, peri-urban area, and a residential–industrial area. In areas of high susceptibility, 47 cases (29%) and 65 controls (31%) were observed; and in areas of low susceptibility 25 cases (15%) and 21 controls (10%) were observed. The development of the AP susceptibility map has been demonstrated to be a valuable tool for identifying patterns, generating hypotheses regarding the potential environmental exposure of NB to AP agents during pregnancy. When integrated into more complex analyses, these findings may contribute to assess the potential risk factors that play a major role in BD.
- A genetic variant in the 3′-UTR of PIWIL4 confers risk for extreme phenotypes of male infertility by altering miR-215 and miR-136 binding affinityPublication . González-Muñoz, Sara; Cerván-Martín, Miriam; Guzmán-Jiménez, Andrea; Rodríguez-Martín, Ana Isabel; Garrido, Nicolás; Castilla, José A.; Gonzalvo, M. Carmen; Clavero, Ana; Molina, Marta; Vilches, Miguel Ángel; Espuch-Oliver, Andrea; Maldonado, Vicente; García-Peña, María Luisa; Galiano-Gutiérrez, Noelia; Santamaría, Esther; González, Cristina; Quintana-Ferraz, Fernando; Gómez, Susana; Amorós, David; Martínez-Granados, Luis; Ortega-González, Yanira; Burgos, Miguel; Pereira-Caetano, Iris; Pinto, Graça S.; Aguiar, Ana; Pereira, Isabel S.; López-Rodrigo, Olga; Bassas, Lluís; Seixas, Susana; Gonçalves, João; Lopes, Alexandra M.; Larriba, Sara; Bossini-Castillo, Lara; Carmona, F. David; Palomino-Morales, Rogelio J.Study question: What is the functional impact of the rs508485 genetic polymorphism, located in the 3'-untranslated region (UTR) region of the PIWIL4 gene, on non-obstructive azoospermia (NOA)? Summary answer: The rs508485 genetic variant contributes to the pathogenesis of extreme patterns of NOA by modulating PIWIL4 expression through microRNA (miRNA) interactions. What is known already: Male infertility represents a significant global health challenge with profound societal and economic consequences. One of the most severe forms of male infertility is NOA, which is characterized by severe spermatogenic failure (SPGF) of idiopathic origin in most cases. Cumulating knowledge increasingly suggests that this idiopathic form of NOA may represent a multifactorial condition involving complex interactions between genetic and environmental factors. The PIWI protein subfamily, particularly PIWIL4, plays a pivotal role in spermatogenesis by processing PIWI-interacting RNAs, which silence retrotransposons to protect genomic integrity. Genetic variations in this gene have been found to be associated with susceptibility to NOA. Study design, size, duration: A case-control study was conducted in a European cohort including 1516 infertile men with SPGF and 2451 fertile controls. Logistic regression and functional assays were employed to investigate the functional role of the rs508485 polymorphism in PIWIL4. Participants/materials, setting, methods: Participants were genotyped for the rs508485 polymorphism. Associations between the polymorphism and NOA phenotypes, including Sertoli cell-only (SCO) syndrome and testicular sperm extraction (TESE) outcomes, were assessed. In silico tools predicted miRNA binding effects, which were subsequently validated using luciferase reporter assays. Main results and the role of chance: The T allele of rs508485 was significantly associated with the SCO phenotype (P = 2.69E-03, OR = 1.34) and unfavourable TESE outcomes (P = 1.09E-03, OR = 1.54). In silico analyses predicted that the rs508485 variant might alter binding sites in the 3'-UTR region of PIWIL4 for different miRNAs, such as hsa-miR-215-3p and hsa-miR-136-3p. Functional validation using luciferase assays confirmed that these miRNAs differentially bind to the T and C alleles of this polymorphism, influencing PIWIL4 regulation. Large scale data: N/A. Limitations, reasons for caution: The study is limited to a single genetic polymorphism and functional assays were performed in vitro. Additional studies are required to validate these findings across diverse populations and explore additional genetic interactions. Wider implications of the findings: These findings highlight the critical role of miRNA regulation in extreme forms of male infertility by influencing the expression of essential spermatogenesis genes, such as PIWIL4. Our study sheds light on the genetic mechanisms underlying spermatogenesis and suggests potential therapeutic targets for NOA.
- Nutritional valorization of fermented melon by-products: novel sustainable ingredients?Publication . Domingues, Mariana S.; Silva, M.A.; Pestana, José M.; Costa, Helena Soares; Albuquerque, T.G.Although often disregarded as by-products of melon processing, both the peel and seeds contain valuable nutrients and bioactive compounds, making them promising candidates for fermentation studies. To investigate the feasibility and effectiveness of lactic and alcoholic fermentation applied to melon peel, seeds, and by-products, with the goal of evaluating their potential for developing valueadded products and promoting sustainability in melon processing. During 2023, melon by-products, seeds and peels were collected in a hotel in the Lisbon region. After adding 2% salt (lactic fermentation) or 2% sucrose (alcoholic fermentation) of the total weight of melon by-products/seeds or peels, bags were sealed under vacuum and maintained for 7 days at 27 °C ± 1 °C. Samples were homogenized in a blender, 3dehydrated (55 °C; 12h), homogenized and sieved to obtain flour. The energy and carbohydrates content were calculated after the determination of the nutritional composition (moisture, ash, total protein and fat, dietary fibre and s alt) of the fermented products. Six products were obtained: lactic/alcoholic fermented melon by-products flour, lactic/alcoholic fermented melon peel flour, and lactic/alcoholic fermented melon seed flour. According to Regulation (EU) No. 1924/2006, all products (100%) are rich in dietary fiber (>6 g/100 g), and 83% are high in protein (>20% of energy value). Additionally, lactic/alcoholic fermented melon peel flour has a low-fat content. This study emphasizes that cost-effective processes, such as fermentation, can simultaneously reduce waste and generate value-added products, promoting sustainability in melon processing and the development of innovative functional food ingredients.
- The potential bias introduced into COVID-19 vaccine effectiveness studies at primary care level due to the availability of SARS-CoV-2 tests in the general populationPublication . Lanièce Delaunay, Charlotte; Nunes, Baltazar; Monge, Susana; de Lange, Marit; Túri, Gergő; Machado, Ausenda; Latorre-Margalef, Neus; Mlinarić, Ivan; Lazar, Mihaela; Botella Rocamora, Paloma; Erdwiens, Annika; Sève, Noémie; Domegan, Lisa; Martínez-Baz, Iván; Hooiveld, Mariëtte; Oroszi, Beatrix; Guiomar, Raquel; Sperk, Maike; Kurečić Filipović, Sanja; Pascu, Catalina; Linares Dopido, Juan Antonio; Dürrwald, Ralf; Rameix-Welti, Marie-Anne; McKenna, Adele; Castilla, Jesús; van Hagen, Cheyenne; Knol, Mirjam; Bacci, Sabrina; Kaczmarek, Marlena; Kissling, Esther; VEBIS Primary Care Vaccine Effectiveness GroupBackground: With SARS-CoV-2 self-tests, persons with acute respiratory infections (ARI) can know their COVID-19 status. This may alter their decision to consult a general practitioner (GP), potentially biasing COVID-19 vaccine effectiveness (VE) studies. We explore bias mechanisms, simulate magnitude, and verify control methods. Methods: We used directed acyclic graphs (DAGs) to illustrate the bias mechanisms. Based on the European primary care VEBIS multicentre test-negative design (TND) study, we simulated populations with varying true VE (20%-60%), proportions of persons with ARI self-testing (10%-30%), effect of COVID-19 vaccination on self-testing (1.5-2.5), and effect of self-test result on GP consultation (0.5-2). We performed 5000 runs per scenario, estimating VE among those consulting a GP. We calculated bias as true VE minus mean simulated VE, unadjusted and adjusted for self-testing, using logistic regression. Results: DAGs suggested collider stratification bias if vaccination had an effect on self-testing and if self-test results affected GP consultation. Bias was -12% to 18% at 20% true VE, with the most extreme associations and 30% self-testing. With 60% true VE and 10%-20% self-testing, bias was lower. Bias was higher (-18% to 45%) if both positive and negative self-test results affected GP consultation. Adjusting for self-testing removed the bias. Conclusions: Self-testing may bias COVID-19 VE TND studies in primary care if self-testing is high, particularly with low VE. We recommend primary care TND VE studies collect self-testing information to eliminate potential bias. Observational studies are needed to understand the relationship between vaccination, self-testing, and GP consultation, in these studies' source population.
- Associação entre o Índice de Vulnerabilidade à Pobreza Energética e os Níveis de Tensão Arterial na População PortuguesaPublication . Rodrigues, Madalena; Gouveia, João Pedro; Sousa-Uva, MafaldaEm Portugal, estima-se que entre 1,8 e 3 milhões de pessoas vivam em situação de pobreza energética, estando entre 609 mil e 660 mil em condição severa. A exposição a temperaturas extremas dentro das habitações pode agravar problemas de saúde existentes e aumentar o risco de doenças cardiovasculares, como a hipertensão arterial, que afeta cerca de 36% da população portuguesa entre 25 e 74 anos. A pobreza energética resulta da combinação de baixos rendimentos, má eficiência energética das habitações e dificuldades no pagamento das faturas de energia. Este problema é intensificado pelas alterações climáticas, que elevam a frequência de eventos extremos. Apesar das preocupações expressas em políticas europeias, poucos estudos populacionais avaliaram a associação entre pobreza energética e saúde utilizando medidas objetivas. Este trabalho tem como objetivo estimar a associação entre o Índice de Vulnerabilidade à Pobreza Energética (IVPE) desenvolvido ao nível da freguesia (#3092) e os níveis de tensão arterial na população adulta portuguesa. Trata-se de um estudo epidemiológico, observacional, transversal e analítico, com dados do Inquérito Nacional de Saúde com Exame Físico 2015 (INSEF), abrangendo 4911 indivíduos de 25 a 74 anos. O IVPE foi categorizado em tercis (baixo, médio e alto) e as associações foram analisadas por regressão linear, ajustada para fatores sociodemográficos e económicos. Os resultados evidenciam que viver em áreas com elevada vulnerabilidade à pobreza energética está associado a um aumento significativo da tensão arterial. No contexto do arrefecimento, observou-se um acréscimo de 2,28% na Tensão Arterial Sistólica (TAS) e de 2,08% na Tensão Arterial Diastólica (TAD), enquanto para o aquecimento verificou-se um aumento significativo na TAS, mas sem relevância na TAD. Estes reforçam a pobreza energética como um fator de risco relevante para a saúde, sublinhando a necessidade de políticas públicas eficazes para mitigar os seus impactos. Num contexto de alterações climáticas e envelhecimento da população portuguesa, garantir condições habitacionais adequadas pode ser uma estratégia essencial para reduzir desigualdades sociais, promover a saúde e o bem-estar, bem como aliviar a pressão sobre os sistemas de saúde pública.
- CFTR modulator drugs can reduce the invasive properties of colorectal cancer cellsPublication . Vicente, Luana; Barros, Patrícia; Gonçalves, Vânia; Oliveira, Paula; Jordan, Peter; Matos, PauloIntroduction: Colorectal cancer (CRC) remains a leading cause of cancer-related mortality, driven by complex genetic, epigenetic, and microenvironmental factors. Recent findings implicate the cystic fibrosis transmembrane conductance regulator (CFTR) ion channel in CRC progression, as CFTR levels are notably reduced in sporadic CRCs, particularly in advanced and metastatic tumors, correlating with poorer patient outcomes. Additionally, cystic fibrosis (CF) patients, who carry CFTR mutations, have a 6-fold increased risk of early-onset CRC. Given recent advances in small-molecule modulators that restore CFTR function in CF patients, this study explored the potential of repositioning these modulators to address CFTR downregulation in sporadic CRC. Material and method: Using a panel of CRC cell lines, we investigated whether CFTR modulators can increase CFTR functional expression in cells with various genetic backgrounds and whether such improvements could reduce their oncogenic properties. Result and discussion: Our data show that treatment with the CFTR folding correctors VX-661 and VX-445 led to a significant, approximately three-fold increase in CFTR abundance in CRC cells expressing reduced but detectable levels of the channel. Additionally, these treatments significantly reduced the migratory and invasive behavior of Caco-2 and DLD-1 cells, particularly when combined with the CFTR potentiator VX-770. Our findings suggest that CFTR modulators may hinder the oncogenic properties of CRC cells. Further in vivo studies are necessary to fully assess their potential benefits for repositioning as a CRC treatment.
- Ensaios microbiológicos/Interpretação de resultadosPublication . Belo Correia, CristinaAvaliação da Qualidade microbiológica. Amostras: alimentos, superfícies do ambiente de preparação e distribuição alimentar, incluindo mãos de manipuladores de alimentos; Colheita da amostra testemunha e de amostras para vigilância da qualidade microbiológica; Parâmetros microbiológicos: indicadores de alteração, indicadores de higiene e patogénicos. Casos Práticos