ABC-RI
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Àcerca do Centro de Investigação Biomédica do Algarve => ABC-RI
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Percorrer ABC-RI por Objetivos de Desenvolvimento Sustentável (ODS) "04:Educação de Qualidade"
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- Activity induced genes expression is impaired in polyglutamine spinocerebellar ataxiasPublication . Torquato Afonso, Inês; Vilhena Catarino Brito, David; Bading, Hilmar; Nóbrega, ClévioPolyglutamine Spinocerebellar ataxias (SCAs) are a group of 6 incurable genetic disorders, caused by an expansion of the trinucleotide cytosine-adenine-guanine in their causative genes, which produces a protein with an expanded glutamine region. This project focuses on the study of Spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) (1), which are rare dominantly inherited disorders that primarily impair the cerebellum therefore leading to motor ataxia. Activity-induced inhibitor of death (AID), are a group of pro-survival 9 genes which were found to be neuroprotector in several neurological disorders, including stroke, glaucoma, AD, HD, and ALS (2). In this project, we aim to investigate about the relevance of the expression of AID genes for cerebellum function and whether their expression levels are impaired in SCA2 and SCA3
- Annexin A2 regulates AKT upon H2O2-dependent signaling activation in cancer cellsPublication . Castaldo, Stéphanie Anais; Ajime, Tom; Serrão Fernandes, Lina Gisela; Anastácio, Fábio; Rosa, Joana Teixeira; Giacomantonio, Carman Anthony; Howarth, Alison; Hill, Richard; Madureira, PatriciaHydrogen peroxide (H2O2) is a main second messenger in oncogenic signaling networks including the Ras and the growth factor receptor pathways. This is achieved predominantly through the oxidation of redox-sensitive cysteine (Cys) residues in proteins resulting in changes to their structure and function. We previously identified annexin A2 (ANXA2) as a redox regulatory protein that plays an important cellular role during oxidative stress and also promoting tumorigenesis. Here we investigated the role of ANXA2 in the regulation of H2O2-dependent signaling that drives tumor progression. We show that depletion of ANXA2 leads to the enhanced activation of AKT following either EGF/EGFR stimulation or oncogenic Ras transformation. The phosphatase and tensin homologue (PTEN) protein negatively regulates the PI3K/AKT pathway. We demonstrate that ANXA2 via its reactive Cys-8 residue, binds to PTEN and that the co-expression of PTEN and ANXA2, but not ANXA2 Cys-8-Ala mutant, inhibits AKT phosphorylation on Ser 473. These results indicate that ANXA2 is important for PTEN regulation within the PI3K/AKT signaling cascade. Furthermore, we also reveal that ANXA2 inversely regulates the expression of the peroxidase, peroxiredoxin 2, in a reactive oxygen species dependent manner.
- Food insecurity in higher education studentsPublication . Paula, Aline de; Carneiro, Beatriz; Mendes, Inês; Pacheco, Mariana; Gonçalves, Marta; Pinto, Ezequiel; Palma Mateus, MariaFood insecurity (FI) indicates a situation in which there is no regular access to food in satisfactory quantity and quality. To characterize FI in students from Portuguese higher education institutions, a study was conducted in a non-random sample of students, with an online questionnaire consisting of sociodemographic questions and the Portuguese version of the IF scale. There were 200 valid questionnaires and 27.5% of the participants were classified as having some degree of FI. Participants with FI reported fewer visits to the family’s home (p = 0.024) and less financial resources (p < 0.001). The results indicate that interventions are needed in this area.
- Gamification on mathematics engagement and motivation in secondary school and higher education: a systematic review and meta-analysisPublication . Ratinho, Elias; Figueiredo, Mauro; Estêvão, Maria Dulce da Mota Antunes de Oliveira ; Faísca, Luís; Martins, CátiaThis systematic review and meta-analysis examined the effects of gamification on students’ motivation and engagement in mathematics at the secondary and higher education levels. A literature search (April 2025) followed by an updated search (November 2025) across ten databases identified 45 studies for qualitative synthesis and 11 for meta-analysis. The review followed PRISMA 2020 guidelines with a pre-registered protocol, and study quality was appraised with the Mixed Methods Appraisal Tool. Meta-analytic results using a three-level Correlated and Hierarchical Effects model with robust variance estimation showed a significant small-to-moderate positive effect on motivation (g = .383, 95% CI [.11, .66], p = .0218). Motivation was assessed more consistently than engagement that could not be included in the meta-analysis due to the lack of validated measures. The systematic review indicates that gamification supports motivation and engagement, with only four studies reporting negative effects. Most interventions used digital platforms (e.g., Kahoot!; Classcraft) and common game elements such as points, leaderboards and instant feedback. Overall, gamification appears promising for enhancing motivation and engagement in mathematics when designs are aligned with students’ needs, balancing competition with mastery and cooperation. Therefore, educators should limit excessive competition and prioritize personal progress and cooperative tasks that foster social interaction. Future studies should employ validated measures, larger samples, and examine both motivation and engagement to strengthen the evidence base and guide effective implementation in education.
- The immune tumor microenvironment in gliomas: may CITED2 play a role?Publication . Teotónio Fernandes, Mónica AlexandraGliomas are the most common brain cancers, resulting from transformed glial cells. CITED2 is a co-transcriptional regulator previously implicated in several types of cancer, affecting both cellintrinsic processes and the microenvironment. Because in breast cancer it was shown to contribute to the recruitment of macrophages and their polarization to an immunosuppressive phenotype, a potential similar role was explored in gliomas. By analyzing publicly available databases using a set of bioinformatics tools, it was found that CITED2 is overexpressed in higher-grade gliomas and contributes to an adverse prognosis. In addition, CITED2 expression correlates with macrophage infiltration and a M2 phenotype.
- Investigating glioblastoma response to hypoxiaPublication . Chédeville, Agathe L.; Lourdusamy, Anbarasu; Monteiro, Ana Rita; Hill, Richard; Madureira, PatriciaGlioblastoma (GB) is the most common and deadly type of primary malignant brain tumor with an average patient survival of only 15–17 months. GBs typically have hypoxic regions associated with aggressiveness and chemoresistance. Using patient derived GB cells, we characterized how GB responds to hypoxia. We noted a hypoxia-dependent glycolytic switch characterized by the up-regulation of HK2, PFKFB3, PFKFB4, LDHA, PDK1, SLC2A1/GLUT-1, CA9/CAIX, and SLC16A3/MCT-4. Moreover, many proangiogenic genes and proteins, including VEGFA, VEGFC, VEGFD, PGF/PlGF, ADM, ANGPTL4, and SERPINE1/PAI-1 were up-regulated during hypoxia. We detected the hypoxic induction of invasion proteins, including the plasminogen receptor, S100A10, and the urokinase plasminogen activator receptor, uPAR. Furthermore, we observed a hypoxia-dependent up-regulation of the autophagy genes, BNIP-3 and DDIT4 and of the multi-functional protein, NDRG1 associated with GB chemoresistance; and down-regulation of EGR1 and TFRC (Graphical abstract). Analysis of GB patient cohorts’ revealed differential expression of these genes in patient samples (except SLC16A3) compared to non-neoplastic brain tissue. High expression of SLC2A1, LDHA, PDK1, PFKFB4, HK2, VEGFA, SERPINE1, TFRC, and ADM was associated with significantly lower overall survival. Together these data provide important information regarding GB response to hypoxia which could support the development of more effective treatments for GB patients.
- Methylation status of the telomerase reverse transcriptase promoter in parotid tumours and adjacent parotid gland tissue: a pilot study on the implications for recurrence and development of malignancyPublication . Paiva Correia, Antonio; Apolónio, Joana; Nadal, Alfons; Brandão, José Ricardo; Silva, Nádia; Machado, Bianca; Archilla, Ivan; Castelo-Branco, Pedro; Hellquist, HenrikBackground/Objectives: The methylation of the hypermethylated oncological region (THOR) of human telomerase reverse transcriptase (hTERT) may forecast tumour aggressiveness. This pilot study aimed to evaluate THOR methylation as a potential biomarker for recurrence/malignant transformation in salivary gland pleomorphic adenomas (PA). Methods: THOR methylation was assessed by quantitative pyrosequencing in 96 parotid tissue samples (benign and malignant), including non-neoplastic parotid tissue, PA, recurrent PA (rPA), and carcinomas, along with their adjacent tissues. TERT promoter mutations (TPMs) were analysed by Sanger sequencing. Results: THOR methylation significantly differed across the seven groups. Malignant tissues showed higher THOR methylation than non-neoplastic tissues, whereas benign tumours showed no significant difference from non-neoplastic tissue. THOR methylation in rPA was closer to carcinoma than to normal tissue, similar in rPA and tissues adjacent to rPA, and higher in tissues adjacent to carcinomas than in non-neoplastic tissues. A subset of PA-adjacent tissues showed epigenetic alterations, suggesting an increased risk of recurrence or malignant transformation (5–15%). No TPMs were detected. Conclusions: THOR methylation may add information to differentiate normal from carcinogenic tissues and, as such, may be included in a biomarkers panel. Epigenetic alterations in PA-adjacent tissues with normal histology highlight the need for improved diagnostic markers.
- A morphometric characterization of early CHICK embryo elongationPublication . Maia-Fernandes, Ana C; Pais de Azevedo, Tomás; Martins, Nísia Borralho; Ventura Ramalhete, Sara Maria; Martins, G. G.; Palmeirim, Isabel; dos Santos Duarte, Guilhermina Isabel; Marreiros, Ana; Martel, Paulo; Andrade, RaquelThe chicken embryo has long been a pivotal model system to understand the cellular and molecular mechanisms driving amniote embryo development. Its easy access for in vivo experimentation, together with the development of ex ovo culture techniques, has made it a choice model system for elaborate experimental manipulations. Temporal progression of chick embryo development is classically categorized using the Hamburger and Hamilton staging system (Hamburger, V., & Hamilton, 1951). However, this offers limited temporal resolution when comparing embryos within the same developmental stage and may further be hindered by experimental conditions that directly impact the morphological structures used for stage identification. Here, we performed timelapse imaging of early chick embryonic stages HH4 to HH10 and obtained quantitative elongation data of multiple embryonic portions, yielding two valuable and freely accessible data resources for the chick research community. We identified length measurements capable of describing developmental time, thus enabling the alignment of independent embryos with temporal resolution. Notably, the head-fold (C-HF) showed a strong time correlation, even though it elongates above the primary embryonic axis. A morphometric characterization of HH stages further showed that C-HF length can discriminate HH stages of development, albeit with limited resolution. Finally, we present ChEEQ: Chicken Embryo Elongation Quantification (https://colab.research.google.co m/github/EmbryoClock/ChickElong/blob/main/ChEEQ/ChEEQ.ipynb), a new morphometric tool describing HH4-HH10 embryo elongation, that allows the comparison of user-input data with our reference dataset and is capable of inferring quantitative alterations to embryo developmental time using length measurements alone. Together, these resources open new avenues for investigating vertebrate embryo elongation and quantitatively assessing the effects of experimental interventions on development.
- Neuroimaging and pathology biomarkers in parkinson’s disease and parkinsonismPublication . Cilia, Roberto; Arnaldi, Dario; Ballanger, Bénédicte; Ceravolo, Roberto; Micco, Rosa De; Del Sole, Angelo; Eleopra, Roberto; Endo, Hironobu; Fasano, Alfonso; Hoenig, Merle C.; Horsager, Jacob; Lehéricy, Stéphane; Leta, Valentina; Moda, Fabio; Nolano, Maria; Outeiro, Tiago; Parkkinen, Laura; Pavese, Nicola; Quattrone, Andrea; Ray, Nicola J.; Reich, Martin M.; Rektorová, Irena; Strafella, Antonio P.; Tagliavini, Fabrizio; Tessitore, Alessandro; van Eimeren, ThiloThe “Neuroimaging and Pathology Biomarkers in Parkinson’s Disease” course held on 12–13 September 2025 in Milan, Italy, convened an international faculty to review state-ofthe- art biomarkers spanning neurotransmitter dysfunction, protein pathology and clinical translation. Here, we synthesize the four themed sessions and highlights convergent messages for diagnosis, stratification and trial design. The first session focused on neuroimaging markers of neurotransmitter dysfunction, highlighting how positron emission tomography (PET), single photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI) provided complementary insights into dopaminergic, noradrenergic, cholinergic and serotonergic dysfunction. The second session addressed in vivo imaging of protein pathology, presenting recent advances in PET ligands targeting α- synuclein, progress in four-repeat tau imaging for progressive supranuclear palsy and corticobasal syndromes, and the prognostic relevance of amyloid imaging in the context of mixed pathologies. Imaging of neuroinflammation captures inflammatory processes in vivo and helps study pathophysiological effects. The third session bridged pathology and disease mechanisms, covering the biology of α-synuclein and emerging therapeutic strategies, the clinical potential of seed amplification assays and skin biopsy, the impact of co-pathologies on disease expression, and the “brain-first” versus “body-first” model of pathological spread. Finally, the fourth session addressed disease progression and clinical translation, focusing on imaging predictors of phenoconversion from prodromal to clinically overt stages of synucleinopathies, concepts of neural reserve and compensation, imaging correlates of cognitive impairment, and MRI approaches for atypical parkinsonism. Biomarker-informed pharmacological, infusion-based, and surgical strategies, including network-guided and adaptive deep brain stimulation, were discussed as examples of how multimodal biomarkers may inform personalized management. Across all sessions, the need for harmonization, longitudinal validation, and pathology-confirmed outcome measures was consistently emphasized as essential for advancing biomarker qualification in multicentre research and clinical practice.
- On the run—comparing bioimpedance analysis (BIA) using portable devicesPublication . Dias, Carina Vieira; Dias, Joana C.; Laranjo, Céu; Cardoso, Paulo; De Sousa-Coelho, Ana LuísaBioelectrical impedance analysis (BIA) is a non-invasive indirect method that allows for measurement of lean and fat body mass. The main goal of this exploratory study was to compare the results from two different portable BIA devices. We found that only fat-free mass and body fat mass were directly comparable between InBodyS10 (Teprel, Porto, Portugal) and seca mBCA 525 (Bacelar, Porto, Portugal) medical portable BIA devices.