Browsing by Issue Date, starting with "2023-11"
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- 15.ª Reunião Anual PortFIR - Alimentação de base vegetal: Balanço entre nutrição, produção, processamento e custo: Resumo da reuniãoPublication . Brazão, Roberto; Fernandes, Paulo; Lopes, Andreia; Dias, Maria da GraçaResumo da 15.ª Reunião Anual PortFIR subordinada ao tema “Alimentação de base vegetal | Balanço entre nutrição, produção, processamento e custo”. A publicação apresenta as comunicações e abstracts/posters submetidos, bem como os resultados da avaliação ao grau de satisfação dos participantes no evento.
- As quedas nas crianças e jovens até aos 14 anos de idade enquanto acontecimento observado no sistema EVITA: dados 2022Publication . Alves, Tatiana; Silva, Susana; Braz, Paula; Rodrigues, Emanuel; Neto, Mariana; Mexia, Ricardo; Matias-Dias, Carlos
- Anemia de células falciformes: avaliação da hemoglobina fetal num grupo de crianças angolanas antes e após tratamento com hidroxiureiaPublication . Almeida, Priscilla; Costa, Alcina; Seuanes, Filomena; Romão, Raquel; Brito, Miguel; Silva, Isabel Moreira da; Miranda, Armandina
- IL-6 induces the overexpression of genes involved in the regulation of apoptosis and cell-cell adhesion in polarized colorectal cancer cellsPublication . Alves, Bárbara; Pereira, Joana F.; Ferrão, José; Vieira, Luís; Matos, Paulo; Jordan, Peter; Gonçalves, VâniaIntroduction: An inflammatory microenvironment was identified as a critical tumor-promoting condition for cells harboring tumor-initiating mutations. Cancer cells respond to pro-inflammatory signals with changes in their transcriptome, namely upregulating the expression of pro-tumorigenic transcript variants. A paradigmatic example is the variant RAC1B. We found increased RAC1B levels in samples from inflammatory bowel disease patients or following experimentally-induced acute colitis in mouse models and showed it to be overexpressed in colorectal tumors. Recently, we found that the overexpression of RAC1B in polarized Caco-2 colorectal cancer (CRC) cells was triggered by the presence of pro-inflammatory interleukin (IL)-6. Here we describe the use of RNA-seq to characterize the transcriptome-wide changes induced in CRC cells by exposure to IL-6. Methods: Total RNA isolated from control and IL-6-stimulated cells was subjected to library preparation and paired-end sequencing. Sequencing fastq files were first processed and quality controlled. Salmon was used to align raw reads to the human reference transcriptome (hg38) and to perform transcript quantification. Differentially expressed genes (DEGs) were identified using DESeq2, by analyzing the summarized counts per gene comparing control and IL-6 stimulation conditions. We have also performed an analysis for biological process enrichments by Gene Ontology. Selected DEGs in significantly enriched categories were validated by semiquantitative (sq)RT-PCR. Results and discussion: We show that the most significant IL-6-induced transcriptional changes were associated with the upregulation of a cluster of 18 genes, mostly associated with the regulation of apoptosis and CEACAM-mediated cell-cell adhesion. Using sqRT-PCR, we validated the upregulation of three of these genes in IL-6 treated Caco2-cells, but, interestingly, found their expression to be instead downregulated in primary tumors of the CRC TCGA dataset. Conclusion: Exposure of polarized Caco-2 CRC cells to IL-6 causes upregulation of pro-tumorigenic genes, which, paradoxically, appear to be downregulated in primary CRC tumors. Further studies will be required to clarify the impact of these results in CRC development.
- Influência do background migratório no excesso de peso infantil: estudo COSI Portugal 2018/2019Publication . Mendes, Sofia; Rito, Ana
- Contaminação de superfícies por fungos em habitação: um risco para a saúdePublication . Júlio, Cláudia; Rosa, Nuno; Almeida, Cristina; Pais, Aida; Cano, Manuela
- Distress among healthcare professionals during the first two years of COVID-19 pandemic in PortugalPublication . Costa, Alexandra; Fialho, Mónica; Rasga, Célia; Martiniano, Hugo; Santos, Osvaldo; Virgolino, Ana; Vicente, Astrid; Heitor, Maria JoãoThe COVID-19 pandemic increased existing psychosocial risk factors among healthcare professionals (HCPs). Integrated into a wider project, the main objective of this study was to characterize Portuguese HCPs mental health (MH), estimate the percentage of symptoms of anxiety, depression, post-traumatic stress disorder (PTSD), and burnout, and identify risk and protective factors. Methods: A cross-sectional online survey and a longitudinal assessment were conducted in 2020 (T0) and 2021 (T1). Sociodemographic and occupational variables, as well as protection behaviors and pandemic-context data were collected from a large non-probabilistic sample of HCPs in Portugal. MH outcomes were assessed using instruments with sound psychometric properties. Risk and protective factors were evaluated through simple and multiple logistic regression models. Results: A total of 2027 HCPs participated in the survey in T0; 1843 in T1. Despite the percentage of moderate to severe symptoms had decreased from T0 to T1: 26.1% and 23.3% for anxiety (T0 and T1, respectively; p = 0.028), 25.3% and 23.7% for depression, 22.7% and 19.1% for PTSD (p = 0.003), and 29.8% to 29.5% for burnout, a considerable proportion of HCPs reported symptoms of distress in both years. Being a woman, working in a COVID-19-treatment frontline position and the perception of work-life imbalance increased the odds of distress (in both T0 and T1), whilst high resilience, good social/family support, and hobbies/lifestyle maintenance were found to be MH protective factors. Conclusions: The longitudinal approach of our study allowed following-up changes in HCPs mental health and show that performing as an HCP during the pandemic may result in long-term effects on MH. Our results also provide evidence to support interventions targeting gender and professional sub-groups. Further studies are needed to understand the potential long-lasting psychological burden related to COVID-19 among HCPs.
- Vigilância da resistência aos antibióticos em Portugal de 2015 a 2022Publication . Manageiro, Vera; Paiva, José Artur; Caniça, Manuela; participantes EARS-Net-Portugal
- The use of gene-specific classification guidelines VS ACMG 2015: MODY case studyPublication . Dario, Paulo; Vaz, Margarida; Gaspar, Gisela; Bourbon, MafaldaMaturity Onset Diabetes of the Young (MODY) is a form of diabetes characterized as a dominant monogenic disorder. It is caused by pathogenic or likely pathogenic variants in any of the 14 genes currently associated with the disease. Since 2015 our laboratory has employed the classification algorithm guidelines established by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) for variant classification. However the process of variant classification under these guidelines can be intricate and time intensive. To address these limitations the Monogenic Diabetes Variant Classification Expert Panel (MDEP VCEP) has developed specialized guidelines for classifying MODY variants particularly those found in the GCK, HNF1A, and HNF4A genes. Our objective is to determine whether variants initially classified as VUS under the 2015 ACMG guidelines can achieve a definitive classification when re-evaluated using the specific criteria set forth by the MDEP guidelines. In this study we conducted a comparative analysis of two variants identified in patients from the Portuguese MODY Study: HNF1A c.599 G>A/(p.Arg200Gln) and GCK c.1268 T>A/p.(Phe423Tyr). The HNF1A variant was reclassified as Pathogenic, a decision influenced not only by the updated guidelines but also by collaborative data sharing between institutions This robust evidence included the number of affected individuals and their phenotypes, what lead to the upgrade of the variant classification. While the classification of the GCK variant remained VUS, it has not yet been curated by the MDEP group, so it is possible that a future re-evaluation with additional evidence can lead to a definitive classification. In conclusion, the implementation of disease specific guidelines has improved the precision of variant classification, as evidenced by the reclassification of at least one variant in our MODY Diabetes Study. The MDEP group continues to review and update variant classifications submitted to ClinVar sharing their findings.
- Mark-Release-Recapture of Aedes albopictus in Portugal: the influence of climatic factorsPublication . Soares, Patricia; Carvalho, Danilo O.; Silva, Susana Pereira; Gomez Pacheco, Maylen; Amaro, Fátima; Amaro F.; Osório, HugoAedes albopictus mosquitoes spread diseases like dengue, Zika, yellow fever, and chikungunya. The Sterile Insect Technique (SIT), which is based on production of male sterile mosquitoes through radiation and in the release in target areas, can be used as a prevention and control tool against Ae. albopictus native populations. Mark-Release-Recapture trials (MRR) estimate the number of mosquitoes to release during the SIT, but weather conditions can affect results. Thus, we aimed to understand the influence of climatic factors on mosquito collection. MRRs were conducted in October 2022 in Faro, Southern Portugal. Mosquito sterilisation, marking and transport followed protocols from the International Atomic Energy Agency. Releases occurred weekly for three consecutive weeks at two different sites, and mosquitoes were collected using Human Landing Collections (HLC) one, two, four and six days after release. Climatic data, such as temperature, humidity, wind intensity (moderate 15-35 km/h vs weak <15 km/h) and precipitation, were obtained from the Portuguese Institute of the Sea and the Atmosphere. We used generalised linear models with a negative binomial family and log function to estimate factors associated with the number of captured mosquitoes, estimated prevalence ratios (PRs), and the 95% confidence intervals (CI). We released 84 000 marked sterile male mosquitoes and recaptured 528 marked males (0.7%) by HLC. The prevalence of captured mosquitoes was 23% lower when the wind intensity was moderate compared with a weak wind intensity (PR: 0.77, 95% CI: 0.61−0.98). We did not find a statistically significant association between the number of captured mosquitoes and humidity (PR: 0.98, 95% CI: 0.96−1.00), temperature (PR: 1.03, 95% CI: 0.83−1.28) and precipitation (PR: 1.07, 95% CI: 0.60−2.03). Conclusion: It is crucial to plan MRRs carefully and consider weather conditions during their execution to avoid underestimating the population needed for the SIT and compromising the effectiveness of this control method.