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- Relatório REVIVE 2024 - Culicídeos, Ixodídeos e Flebótomos: Rede de Vigilância de VetoresPublication . Centro de Estudos de Vetores e Doenças Infeciosas Doutor Francisco CambournacRelatório REVIVE - Rede de Vigilância de Vetores relativo às atividades desenvolvidas em 2024, que apresenta os resultados da vigilância de culicídeos, ixodídeos e flebótomos. O programa REVIVE visa monitorizar a atividade de artrópodes hematófagos, caracterizar as espécies e sua ocorrência sazonal, e identificar agentes patogénicos importantes em saúde pública. Das atividades apresentadas no presente relatório, destaca-se o seguinte: REVIVE – Culicídeos: - Participaram as cinco Regiões de Saúde e a Direção Regional de Saúde da Madeira, entidades que realizaram colheitas de mosquitos em 241 concelhos de Portugal; - No total foram identificados 38522 mosquitos de 18 espécies, assim como 65802 ovos de espécies invasoras. Nas amostras em que foi pesquisada a presença de flavivírus e alfavírus patogénicos para o Homem, os resultados foram negativos; - O mosquito invasor Aedes aegypti está presente na Região Autónoma da Madeira desde 2005. Outra espécie de mosquitos invasor, Aedes albopictus, foi identificado, pela primeira vez, na região Norte de Portugal em 2017, no Algarve em 2018, no Alentejo em 2022, na região de Lisboa em 2023 e na região Centro em 2024. Estas espécies são vetoras de vírus como dengue, Zika e chikungunya, e têm vindo a aumentar a sua distribuição geográfica nestas regiões. Aedes albopictus foi identificado em 20 concelhos do país em 2024; - No âmbito do REVIVE – Culicídeos foi feita a vigilância em cinco aeroportos internacionais, dois aeródromos, catorze portos e dez outros pontos de entrada de acordo com o Regulamento Sanitário Internacional. REVIVE – Ixodídeos - Participaram as cinco Regiões de Saúde e a Direção Regional de Saúde da Madeira, entidades que realizaram colheitas de carraças em 218 concelhos; - No total foram identificadas 4797 carraças. Para além de 12 espécies de Ixodidae já anteriormente identificadas em Portugal, foram identificados exemplares exóticos de Argasidae que foram classificados como Argas e Ornithodoros spp.; - Nas 1378 carraças utilizadas na pesquisa de Borreliae Rickettsia, em 6,7% e 22,7% respetivamente, foi detetado DNA destes agentes. Nem todas as espécies detetadas são patogénicas para o Homem. - Em 2024 destaca-se assim a deteção de quatro espécies de Borreliae quatro espécies de Rickettsia, já associadas a casos de doença no Homem em Portugal: afzelii, B. garinii, B. lusitaniae e B. valaisiana, agentes etiológicos da borreliose de Lyme; R. conorii agente da febre escaro-nodular; R. monacensis e R. raoultii sem denominação da doença e R. slovaca, agente responsável de TIBOLA. A pesquisa do vírus da febre hemorrágica Crimeia-Congo (CCHFV) foi realizada em 124 exemplares de carraças do género Hyalomma com resultados negativos. REVIVE – Flebótomos - Participaram as cinco Regiões de Saúde, com colheitas realizadas em 50 concelhos; - No total foram colhidos 1046 flebótomos, tendo sido identificados exemplares pertencentes às espécies Phlebotomus ariasi, Ph. perniciosus, Ph. Sergente e Sergentomyia minuta; - Nos 616 flebótomos pesquisados para a presença de flebovírus e de Leismania spp. foi detetada a presença de Leishmania infantum num pool.
- Transcriptomic analysis and epigenetic regulators in human oocytes at different stages of oocyte meiotic maturationPublication . Caniçais, Carla; Sobral, Daniel; Vasconcelos, Sara; Cunha, Mariana; Pinto, Alice; Guimarães, Joana Mesquita; Santos, Fátima; Barros, Alberto; Dória, Sofia; Marques, C. JoanaHuman oocytes are highly specialized cells with the capacity to store and regulate mRNAs during oocyte maturation, in preparation for post-fertilization steps. Here we performed single-oocyte transcriptomic analysis of human oocytes in three meitoic maturation stages - Germinal Vesicle (GV; n = 6), Metaphase I (MI; n = 6) and Metaphase II (MII; n = 7). Single-oocyte transcriptomic analysis revealed that the total number of expressed genes progressively decreased from GV to MII stages, with 9660 genes being transcribed in GV, 8734 in MI and 5889 in MII. The same tendency was observed for the number of uniquely expressed genes, with 1328 uniquely expressed genes in GV, 401 in MI and 72 in MII. GO analysis of the uniquely expressed genes showed distinct terms in GV oocytes such as transferase activity, organonitrogen compound metabolic process and ncRNA processing. Analysis of Differentially Expressed Genes (DEGs) between the three maturation stages revealed 1165 DEGs between GV and MII oocytes, with 635 being upregulated and 528 downregulated, 42 DEGs between GV and MI, with 38 being upregulated and 4 downregulated, and no significant changes in gene expression between MI and MII oocytes. Comprehensive analysis of epigenetic regulators showed high expression of several histone-modifying enzymes, namely deacetylases, acetylases, lysine demethylases and methyltransferases, and DNA methylation regulators, namely the maintenance methyltransferase DNMT1 and its co-regulators DPPA3 and UHRF1. Some of these epigenetic regulators were differentially expressed between maturation stages, namely SIRT3, SIRT6, KDM3AP1, KMT2E, DNMT1, DPPA3 and the MEST and RASGRF1 imprinted genes. Our study contributes with important information on the transcriptional landscape of human oocytes in different stages of meiotic maturation, providing important insights into candidate biomarkers of human oocyte quality.
- Serine metabolism disorder - one more metabolic aetiology of cerebral palsyPublication . Santos, Helena; Almeida, N.; Murteira, F.; Miranda, J. Rocha; Pereira, S. Aires; Santos, F.; Nogueira, Célia; Wortmann, S.; Wevers, R.; Vilarinho, LauraIntroduction: Cerebral palsy (CP) refers to a group of neurological disorders caused by damaage or abnormalities of the developing brain, disrupting its ability to control movement and maintain posture and balance. Usually attributed to labour occurrences, metabolic and genetic disorders are increasingly being identified as main aetiological factors. Serine metabolism disorder involving SLC1A4 gene encoding for ASCT1 transporter are being described as one of the metabolic aetiologies associated to cerebral palsy. Results/Case report: We present a 21-year-old female, born at term from non-consanguineous parents. Low Apgar scores, diagnosed with dystonic cerebral palsy. She developed progressive microcephaly, severe psychomotor delay, no language, non-epileptic startle episodes, agitation, scoliosis, oropharyngeal dysphagia and MALT gastric lymphoma. Brain MRI showed marked postero-anterior graded hypomyelination, thin corpus callosum, mild brainstem hypoplasia. Metabolic investigation showed normal mitochondrial respiratory chain activity and mild mtDNA depletion (60%). Mitochondrial disorders gene panel and clinical exome were inconclusive. The patient was proposed to trio whole genome sequencing (WGS) in ZOEMBA® - International genomic discovery study, and two probably pathogenic biallelic variants c.272T>C (p.Leu91Pro) and c.1277del (p.Gly426Glufs*22) were identified in SLC1A4 gene, encoding for ASCT1 transporter. Conclusion: ASCT1 transporter is a brain serine transporter encoded by SLC1A4 gene, and responsible for SPATCCM - spastic tetraplegia, thin corpus callosum, and progressive microcephaly disorder (MIM #616657). Serine, although a non-essential aminoacid, needs to by synthesized in the brain and shuttle from astrocytes to neuron by this transporter. The clinical phenotype of ASCT1 defect is similar to defects in L-serine biosynthesis. Serine supplementation therapy was proposed as a possible therapeutic tool but only if started before neurological damage occurs.(1)
- Advances in the diagnosis and understanding of mitochondrial cytopathies: a retrospective study of genetic and clinical variabilityPublication . Freitas, Keylene; Pinto, P. Lipari; Dias, P.; Florindo, C.; Gomes, D.; Oliveira, A.; Jotta, R.; Grazina, M.; Nogueira, Célia; Vilarinho, Laura; Gaspar, Ana; Janeiro, PatríciaIntroduction: Mitochondrial cytopathies (MCs) are a phenotypically heterogeneous group of inborn metabolic disorders (IMD) caused by mitochondrial respiratory chain dysfunction. Recent advances in molecular diagnostics have improved our understanding of these complex disorders. However, the extensive genetic and phenotypic heterogeneity of MCs remains only partially characterized and the correlations between specific genetic variants and clinical manifestations are just beginning to be unraveled. We hereby describe the phenotypic and genotypic variability of a cohort of 49 patients with MC.
- New Zebrafish Models for Mitochondrial DiseasesPublication . Nogueira, Célia; Laranjeira, Mateus; Pinho, Brígida; Marchese, Maria; Pereira, Cristina; Azevedo, L.; Oliveira, J.; Santorelli, Filippo; Vilarinho, LauraIntroduction: Mitochondrial diseases (MD) are rare disorders with clinical and genetic heterogeneity and no effective therapies. Next Generation Sequencing has advanced MD diagnosis, although the interpretation of variants of unknown significance (VUS) remains a challenge (1). Functional validation is crucial for determining VUS pathogenicity, and zebrafish has emerged as a valuable organism to model MD, due to its conserved physiology and genetic similarity to humans. This project aims to functionally characterize four previously identified VUS in ACAD9 and TSFM using zebrafish as an in vivo model.
- A European Network for Genomics in HealthcarePublication . Vicente, Astrid MouraThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- Session 4: Using and Upgrading the Genomics in Healthcare Maturity Level ModelPublication . Vicente, Astrid MouraThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- Red blood cell proteomic profiling in mild and severe obstructive sleep apnea patients before and after positive airway pressure treatmentPublication . Valentim-Coelho, Cristina; Saraiva, Joana; Osório, Hugo; Antunes, Marília; Vaz, Fátima; Neves, Sofia; Pinto, Paula; Bárbara, Cristina; Penque, DeborahObstructive Sleep Apnea (OSA) is characterized by recurrent-episodes of apneas/hypopneas during sleep, leading to recurrent intermittent-hypoxia and sleep fragmentation. Non-treated OSA can result in cardiometabolic diseases. In this study, we applied a shotgun-proteomics strategy to deeper investigate the red blood cell-(RBC) homeostasis regulation in the context of OSA-severity and their response to six months of positive airway pressure (PAP)-treatment. RBC-samples from patients with Mild/Severe-OSA before/after-PAP treatment and patients as simple-snoring controls were selected. The mass-spectrometry raw-data was analysed by MaxQuant for protein identification/quantification followed by statistical Linear Models-(LM) and Linear Mixed Models-(LMM) to investigate OSA-severity effect and interaction with PAP, respectively. The functional/biological network analysis were performed by DAVID-platform. The results indicated that key-enzymes of the Embden-Meyerhof-Parnas (EMP)-glycolysis and pentose phosphate pathway-(PPP) were differentially changed in Severe-OSA, suggesting that the O2-dependent metabolic flux through EMP and PPP maybe compromised in these cells due to severe intermittent hypoxia/reoxygenation-induced oxidative-stress events in these patients. The Rapoport-Luebering-glycolytic shunt showed a significant downregulation across OSA-severity maybe to increase hemoglobin-O2 affinity to adapt to O2 low availability in the lung, although EMP-glycolysis showed decreased only in Severe-OSA. Proteins of the immunoproteasome were upregulated in Severe-OSA maybe to respond to severe oxidative-stress. In Mild-OSA, proteins related to the ubiquitination/neddylation-(Ub/Ned)-dependent proteasome system were upregulated. After PAP, proteins of Glycolysis and Ub/Ned-dependent proteasome system showed reactivated in Severe-OSA. In Mild-OSA, PAP induced upregulation of immunoproteasome proteins, suggesting that this treatment may increase oxidative-stress in these patients. Once validated these proteins maybe candidate biomarkers for OSA or OSA-therapy response.
- Assessing the role of children in the COVID-19 pandemic in Belgium using perturbation analysisPublication . Angeli, Leonardo; Caetano, Constantino Pereira; Franco, Nicolas; Coletti, Pietro; Faes, Christel; Molenberghs, Geert; Beutels, Philippe; Abrams, Steven; Willem, Lander; Hens, NielUnderstanding the evolving role of different age groups in virus transmission is essential for effective pandemic management. We investigated SARS-CoV-2 transmission in Belgium from November 2020 to February 2022, focusing on age-specific patterns. Using a next generation matrix approach integrating social contact data and simulating population susceptibility evolution, we performed a longitudinal perturbation analysis of the effective reproduction number to unravel age-specific transmission dynamics. From November to December 2020, adults in the [18, 60) age group were the main transmission drivers, while children contributed marginally. This pattern shifted between January and March 2021, when in-person education resumed, and the Alpha variant emerged: children aged under 12 years old were crucial in transmission. Stringent social distancing measures in March 2021 helped diminish the noticeable contribution of the [18, 30) age group. By June 2021, as the Delta variant became the predominant strain, adults aged [18, 40) years emerged as main contributors to transmission, with a resurgence in children’s contribution during September-October 2021. This study highlights the effectiveness of our methodology in identifying age-specific transmission patterns.
- Distinct exercise modalities on GUT microbiome in sarcopenic older adults: study protocol of a pilot randomized controlled trialPublication . Merelim, Ana Sofia; Zacca, Rodrigo; Moreira-Gonçalves, Daniel; Costa, Paulo P.; C. Baptista, LilianaBackground: Sarcopenia is a progressive and age-related skeletal muscle disease related to adverse health outcomes and to an increased economic burden. Recent evidence pinpoints the human gut microbiota (GM) as a contributing factor in the development of sarcopenia via the gut-muscle axis. To date, no study specifically analyzed the optimal type of exercise modality in older adults with sarcopenia considering the impact of GM composition in skeletal muscle mass and function. Therefore, the DEMGUTS study intents to explore the impact of three different exercise regimens on GM composition and gut-derived metabolites in older adults with sarcopenia. Methods:: This pilot single center three-arm parallel open-label randomized control trial (RCT) will randomly assign eligible participants to: (i) moderate aerobic exercise (AER); (ii) resistance exercise (RES); or (iii) concurrent exercise training (RES + AER). Participants will engage in a supervised center-based exercise intervention (12-weeks, 3 d/week, 60 min/d), and will be assessed at (i) baseline, (ii) end of intervention (14 weeks), and (iii) at close-out (26-weeks). The primary outcome will be the change in the relative abundance of Faecalibacterium prausnitzi and other short-chain fatty acid producing bacteria after the intervention (14-weeks). A set of complementary outcomes will also be assessed to broadly characterize the impact of each exercise intervention on body composition, skeletal muscle function, functional performance and general GM composition. Conclusion: Unraveling the impact of these exercise regimens on GM is crucial to help clarify the optimal exercise modality to manage sarcopenia disease, contributing to clinical guidance and enhancing exercise prescription in older adults with sarcopenia. Clinical trial registration identifier NCT06545123