Faculdade de Medicina e Ciências Biomédicas
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Percorrer Faculdade de Medicina e Ciências Biomédicas 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
- AI-enhanced adaptive testing with cognitive diagnostic feedback and its association with performance in undergraduate surgical education: a pilot studyPublication . Gonçalves, Nuno Silva; Collares, Carlos; Pêgo, José MiguelBackground: Effective feedback in the cognitive domain is essential for surgical education but often limited by resource constraints and traditional assessment formats. Artificial Intelligence (AI) has emerged as a catalyst for innovation, enabling automated feedback, real-time cognitive diagnostics, and scalable item generation, thereby transforming how future surgeons learn and are assessed. Methods: An item bank of 150 multiple-choice questions was developed using AI-assisted item generation and difficulty estimation. A formative Computerized Adaptive Testing (CAT), balanced across three cognitive domains (memory, analysis, and decision) and surgical topics, was delivered via QuizOne® 3–5 days before the summative Progress Test. A total of 147 students participated, of whom 116 completed the formative CAT. Performance correlations, group comparisons, analysis of covariance (ANCOVA), and regression analyses were conducted. Results: Students who voluntarily completed CAT showed higher Progress Test scores, though causality cannot be established due to self-selection bias (p = 0.021), with the effect persisting after adjusting for prior academic performance (ANCOVA p = 0.041). Memory skills were the strongest predictors of summative outcomes (R2 = 0.180, β = 0.425), followed by analysis (R2 = 0.080, β = 0.283); decision was not significant (R2 = 0.029, β = 0.170). Conclusion: AI-enhanced CAT–Cognitive Diagnostic Modeling (CDM) represents a promising formative approach in undergraduate surgical education, being associated with higher summative performance and providing individualized diagnostic feedback. Refining feedback presentation and enhancing decisionmaking assessment could further optimize its educational impact.
- Biomarkers for predicting malignant transformation of premalignant lesions of the larynx: a systematic reviewPublication . Rodrigo, Juan P.; Lima-Souza, Reydson Alcides de; López, Fernando; Stenman, Göran; Agaymy, Abbas; Quer, Miquel; Paleri, Vinidh; Leivo, Ilmo; Nadal, Alfons; Zidar, Nina; Mariano, Fernanda V.; Hellquist, Henrik; Gale, Nina; Ferlito, AlfioBackground/Objectives: Premalignant laryngeal lesions carry a variable risk of malignant transformation to squamous cell carcinoma. Identifying reliable biomarkers that predict malignant transformation could improve patient management and surveillance strategies. The objective of this work is to perform a systematic review of the literature on biomarkers that predict malignant transformation of premalignant laryngeal lesions. Methods: We conducted a systematic review following PRISMA 2020 guidelines. The PubMed, Scopus and Embase databases, and Google Scholar were searched for studies published between January 2011 and November 2025. Studies investigating biomarkers that predict malignant transformation of histopathologically confirmed premalignant laryngeal lesions were included. Risk of bias was assessed using the ROBINS-I tool. Results: From 166 initially identified records, 11 studies met the inclusion criteria, including 730 patients. These studies investigated diverse biomarker categories such as protein markers (cortactin, FAK, NANOG, SOX2, CSPG4), immune markers (tumor-infiltrating lymphocytes, immune gene signatures), microRNAs (miR-183-5p, miR-155-5p, miR-106b-3p), and genetic markers (chromosomal instability, PIK3CA amplification and mutations, FGFR3 mutations). Five studies provided adequate follow-up data on transformation outcomes. Most studies showed a moderate to serious risk of bias primarily due to limited confounder control and incomplete reporting. Conclusions: While several promising biomarker candidates have been identified, the evidence base remains limited due to small sample sizes, heterogeneous methodologies, and inadequate follow-up data. Cortactin/FAK protein expression and immune signatures are the most promising but require validation in larger, well-designed prospective cohorts.
- Challenges and insights in the measurement of clinical reasoning skills: Implications for instructional design and assessmentPublication . Collares, CarlosDear Editor Among the original contributions in the recent paper from Hornos et al. (2024), the introduction of cognitive diagnostic modelling (CDM) as an alternative to unidimensional item response theory (IRT) for evaluating clinical reasoning skills was a truly innovative step. Unidimensional IRT analysis of the data collected by Hornos et al. (2024) revealed a low percentage of explained variance, echoing a previous concern about its inherent reductionism (Collares, 2023). While IRT is suitable for ranking students and adjusting scores to different difficulty levels, it falls short in providing nuanced insights compared to CDM. CDM’s ability to offer skill-specific feedback and accommodate the multidimensional complexity of clinical reasoning makes it a compelling choice.
- Characterization of knowledge, attitudes, comfort, and perception of discrimination regarding sexual and/or gender minoritized people: comparison between two cohorts of medical students - 2018–2023Publication . Macedo, Ana; Ferreira, João; Gutierrez, Ana Rita; Gato, JorgeObjectives: Despite progress made in the medical field to address the health concerns ofsexual and gender minoritized identities, LGBTQIAþ individuals continue to experience dis-crimination in healthcare. This study aims to evaluate the effects of incorporating a seminaron gender identity and sexual orientation into the medical curriculum of a PortugueseMedical School, after 5 years. The study’s main objective was to compare the changes in stu-dents’ knowledge, attitudes, comfort, and perception of discrimination against LGBTQIAþ,pre and post-intervention.Methods: A total of 313 students in their third, fourth, fifth, and sixth year at a PortugueseMedical School were assessed in 2018 (pre-intervention) and 2023 (post-intervention). Thedata collected were analyzed regarding age, gender identity, sexual orientation, number offriends or family members who identify themselves as LGBTQIAþ, and level of religiosity.Results: The overall knowledge regarding LGBTQIAþ people specific health aspects improvedfrom the 2018 cohort to the 2023 cohort, with significant differences in questions regardinggender identity (OR ¼ 2.0, p ¼ .007), sexual orientation (OR ¼ 2.9, p <.001), and mentalhealth (OR ¼ 3.2, p <.001). The perceived discrimination against homosexual patients wassimilar in both cohorts, with approximately 60% of respondents from both groups agreeingthat homosexual patients were discriminated against in healthcare.Conclusion: Although the perception of discrimination against LGBTQIAþ people in health-care remained high across the two cohorts, positive changes were observed regarding stu-dents’ overall knowledge of LGBTQIAþ individuals’ health, clinical preparation and comfortin treating LGBTQIAþ people, and attitudes toward lesbian women and gay men. Theseresults reinforce the need to develop training and information strategies targeting medicalstudents, promoting greater knowledge and, above all, increasing contact and clinical prac-tice with LGBTQIAþ people, since relationships and personal contact are the most differenti-ating aspects for nondiscrimination.
- Chromenone derivatives as CRM1 inhibitors for targeting glioblastomaPublication . Princiotto, Salvatore; Jiménez, Lucía; Domínguez, Lucía; Sequeira, João G. N.; Mourato Paulo, Cristiana Isabel; Orea-Soufi, Alba; da Silva Santos, Bruno Filipe; Dallavalle, Sabrina; Machuqueiro, Miguel; Ferreira, Bibiana; Link, WolfgangGlioblastoma (GBM) is one of the most aggressive and deadly cancers. Due to the complexity and redundancy within signaling networks in GBM, targeted inhibitors of specific pathways have shown only limited success. The nuclear export receptor chromosome region maintenance 1 (CRM1) has recently emerged as a promising therapeutic target, as its inhibition can simultaneously disrupt multiple key oncogenic drivers. Herein, whether chromenone derivatives, known for detecting thiol-containing molecules, can function as CRM1 inhibitors is explored. Several chromenonebased derivatives are synthesized and it is demonstrated that they inhibit CRM1-driven nuclear export in a structure- and dose-dependent manner. A preliminary structure–activity relationship is established, providing a rationale for selective CRM1 binding based on molecular docking studies. Additionally, it is showed that the active chromenone derivatives effectively inhibit the nuclear export of endogenous nuclear export signal-containing substrates in GBM cells. Several of these compounds exhibit selective cytotoxicity againstGBM cell lines, highlighting their potential as targeted therapies for GBM.
- Description of the Hamburg Alexander Leukodystrophy Cohort—Insights into Practical Classification and the Care SituationPublication . Kokaly, Nadia; Guerreiro, Helena; Bredow, Janna; Dreha-Kulaczewski, Steffi; Ohlenbusch, Andreas; Köhler, Wolfgang; Reinhardt, Tabea; Schön, Gerhard; Volk, Alexander E.; Sigel, Helen; Bley, AnnetteBackground: Alexander disease (AxD) is a rare severe leukodystrophy that has no cure to date. A pathogenic gain-of-function variant in the GFAP gene affects the astrocytes and subsequently the function of the white matter in the CNS. Methods: We retrospectively analyzed the most frequent symptoms of nine AxD cases, classified them according to published classifications, and described the need of care and support. Results: The description of the courses of disease of nine cases with AxD reflects the broad spectrum of different phenotypes of AxD, with often occurring apnoea. Data about care and support for AxD patients indicate a high and heterogeneous need of support. Treatment with steroids reduced symptoms in two patients. Some patients showed lasting improvement during their course of disease. Conclusions: The course of AxD is very heterogeneous. Thus, we extracted relevant key features to describe the severity of the disease, namely feeding problems, epilepsy, age-appropriate motor function, failure to thrive, age-appropriate language and apnoea. We recommend early evaluation for clinical care and support. For some AxD patients, treatment with steroids may alleviate symptoms. Further development of efficient treatments is necessary
- Developing a toolkit for building a community hospital clinical research programPublication . Rego, Kian; Orlando, Elaina; Archambault, Patrick; Geagea, Anna; Mitra, Anish R.; Vazquez-Grande, Gloria; Marticorena, Rosa M.; Patterson, Lisa; DiDiodato, Giulio; Rewa, Oleksa G.; Senaratne, Janek; Law, Madelyn; Binnie, Alexandra; Tsang, JenniferPurpose Although health research in Canada is primarily conducted in academic hospitals, most patients receive their care in community hospitals. The benefits of increasing research capacity in community hospitals include improved study recruitment, increased generalizability of results, broader patient access to novel therapies, better patient outcomes, enhanced staff satisfaction, and improved organizational efficiency.
- Development and psychometric validation of the Minho suture assessment scale (Minho-SAS) for medical studentsPublication . Gonçalves, Nuno Silva; Sousa, Rita Matos; Collares, Carlos; Pereira, Vítor Hugo; Pêgo, José Miguel; Anderson, M. BrownellIntroduction: Even though mastery of suturing is a core technical skill in surgical education, existing tools for its assessment often lack psychometric validation or are not specifically designed for undergraduate training. The aim of this study was to develop and validate the Minho Suture Assessment Scale (Minho-SAS), a structured instrument to evaluate fundamental suturing competencies in medical students. The research question was whether the Minho-SAS demonstrates validity and reliability as a psychometric tool. Methods: The development process involved collaboration with multidisciplinary surgical teams and experienced practitioners to ensure content validity. Data from a cohort of medical students were utilized for psychometric evaluation. Dimensionality was assessed using parallel analysis, Bayesian information criterion, unidimensional congruence, item unidimensional congruence, explained common variance, item explained common variance and mean of item residual absolute loadings. Validity based on internal structure was assessed with Rasch model analysis and factor analysis from the tetrachoric correlation matrix. Reliability was assessed using Rasch model standard errors of measurement to obtain a conditional reliability curve and Cronbach's alpha and McDonald's omega internal consistency coefficients. Results: Analyses supported a unidimensional structure for the Minho-SAS. The single-factor solution explained 39.96% of variance, and Rasch measures accounted for 29.15% (16.43% by persons, 12.72% by items). Residual correlations, factor loadings, and item fit statistics were within acceptable ranges. Reliability indices were satisfactory: Rasch reliability = 0.706; McDonald's omega = 0.889; Cronbach's alpha = 0.883. Conclusion: The Minho-SAS is a robust instrument specifically tailored for assessing fundamental suturing skills among medical students. Rasch model analysis yielded less favorable results than factor analysis, yet still acceptable. While demonstrating considerable potential, further exploration of Minho-SAS across diverse populations and educational settings is crucial to affirm its broader applicability and impact in medical education and clinical practice.
- Dextran as an adjunct in carotid endarterectomy: a systematic review and meta-analysisPublication . Silva-Vieira,Duarte; Pereira-Neves, António; Nzwalo, Hipólito; Myrcha, Piotr; Neves, João RochaBackground: Carotid endarterectomy (CEA) is a widely used surgical procedure to prevent stroke in patients with carotid artery stenosis. Dextran, an antithrombotic agent with antihemostatic properties, has been proposed as an adjunctive therapy to reduce thromboembolic complications during CEA. However, its effectiveness and safety remain controversial. This systematic review and meta-analysis aim to assess the incidence of thromboembolic and hemorrhagic complications in patients undergoing CEA with dextran administration. Methods: A systematic search was conducted in MEDLINE, Scopus, and Web of Science for studies evaluating the postoperative effects of dextran in CEA patients. Random-effects metaanalysis was performed to estimate the pooled incidence of adverse events, and heterogeneity was assessed through meta-regression analysis. The quality of the included studies was evaluated using the National Heart, Lung, and Blood Institute Study Quality Assessment Tool for observational studies and the Cochrane Risk-of-Bias 2 tool for randomized controlled trials (RCTs). Results: Ten studies, including a total of 149,540 patients, met the inclusion criteria. Of these, 9 were observational cohort studies (6 retrospective and 3 prospective), while one was an RCT. The meta-analytical incidence of stroke following CEA with dextran was 0.7% at 30 days post operatively (95% confidence interval, 0.3e1.1%), with moderate heterogeneity (I2 ¼ 50.79%, P ¼ 0.002). Meta-regression analysis indicated that geographic region significantly contributed to heterogeneity (P ¼ 0.010), while other clinical covariates, such as diabetes, hypertension, and coronary artery disease, were not associated with significant variations in outcomes. Dextran was primarily administered selectively to high-risk patients, with variations in dosing protocols across studies. Conclusion: The use of dextran in CEA was associated with a low incidence of thromboembolic events. However, some heterogeneity among studies highlights the need for further large-scale RCTs to clarify its efficacy and safety. Given the potential risks of dextran, including hemorrhage and renal complications, individualized patient selection and standardized administration protocols are recommended.