FCB2-Artigos (em revistas ou actas indexadas)
URI permanente para esta coleção:
Conteúdo: Artigos em revistas ou actas de conferências indexadas
a) incluídas na
a) incluídas na
- » Web of Science
- (v. www.webofknowledge.com)
- » ERIH
- (European Research Index for Humanities: erihplus)
- » Latindex
- (Sistema Regional de Información para Revistas Científicas de América Latina, Caribe, España y Portugal: https://latindex.org/latindex/)
- » Scielo
- (Scientific Electronic Library Online: www.scielo.org)
- » Scopus SJR
- (SCImago Journal & Country Rank: www.scimagojr.com)
Navegar
Entradas recentes
- Widespread metastatic uveal melanoma with gastrointestinal and gallbladder involvement: a case reportPublication . de Oliveira, Raquel; Portugal, Margarida; Roseira, Joana; Peixe, BrunoMelanoma is a malignant tumour arising from melanocytes, with cutaneous melanoma accounting for the vast majority of cases. Less frequently, melanomas originate from extracutaneous melanocytes, including those of the uveal tract. Although primary gastrointestinal melanomas exist, gastrointestinal involvement by melanoma more commonly represents metastatic disease. Recognition of gastrointestinal metastatic lesions and their variable endoscopic appearance has become increasingly relevant with the advances in systemic therapies. Case Presentation: We report a case of a 74-year-old man referred for investigation of irondeficiency anaemia. Esophagogastroduodenoscopy revealed multiple flat, dark millimetric lesions in the distal oesophagus, stomach, and duodenum. Histopathological examination with immunohistochemistry revealed melanoma. Cross-sectional imaging and positron emission tomography demonstrated widespread metastatic disease involving the liver, lungs, brain, bone, and gallbladder, as well as a hypermetabolic intraocular lesion. Ophthalmological and dermatological evaluation was consistent with primary uveal melanoma, with no evidence of a cutaneous primary. The patient experienced rapid neurological deterioration due to brain metastases and died shortly after diagnosis. Conclusion: Gastrointestinal metastases of melanoma are rare, particularly in uveal melanoma, and are often clinically silent. Endoscopic findings are heterogeneous and may be detected during the investigation of nonspecific symptoms such as anaemia. This case highlights the importance of recognising and sampling atypical pigmented gastrointestinal lesions, as endoscopy may play a key role in the diagnosis of advanced melanoma and prompt multidisciplinary management.
- Lewy bodies are not associated with neuronal or synaptic loss in dementia with lewy bodiesPublication . Hawksworth, Jade I.; Kirkby‐Geddes, Eddie; Thom, Searlait; O'Neill, Joe; Ikwue, Amelia; Wood, Lucy; Outeiro, Tiago; Erskine, DanielAims: The misfolding and accumulation of the protein α-synuclein (αSyn) into cytoplasmic inclusions termed Lewy bodies (LBs) and Lewy neurites is the defining neuropathological feature of LB diseases, such as Parkinson's disease (PD) and dementia with Lewy bodies (DLB). The loss of neurons and/or synapses has been postulated to underlie the clinical syndrome of DLB. The present study sought to elucidate the relationship between LB burden and neuronal and synaptic loss in DLB. Methods: Post-mortem brain tissue from the cingulate gyrus and inferior temporal gyrus, two regions vulnerable to LB pathology, was obtained from DLB (N=20) and control cases (N=20). Formalin-fixed paraffin-embedded tissue was stained to quantify LB, Alzheimer-type pathology and a neuronal marker. Frozen tissue from the contralateral hemisphere was processed for immunoblotting to compare the abundance of synaptic markers across cases. Results: Across both regions, no evidence of reduced total neuronal density was observed, but a modest reduction in parvalbumin interneurons was observed in the cingulate gyrus, and there were only modest reductions in some synaptic markers in DLB. LB burden was markedly variable across DLB cases but was not associated with any synaptic marker abundance or neuronal density. Conclusions: Taken together, these findings do not support an association between LB density and neuronal or synaptic loss in DLB, even in regions with particularly high burdens of LBs, such as the cingulate gyrus. These findings suggest that the link between αSyn proteinopathy and disease requires further investigation.
- Knockout of the LRRK2-counteracting RAB phosphatase PPM1H disrupts axonal autophagy and exacerbates alpha-synuclein aggregationPublication . Fricke, Michel; Mechel, Anna; Evers, Lennart; Twellsieck, Björn; Grein, Jessica M.; Cima-Omori, Maria-Sol; Al-Azzani, Mohammed; Outeiro, Tiago; Zweckstetter, Markus; Holzbaur, Erika L.F.; Boecker, C. AlexanderParkinson disease (PD)-associated mutations in the LRRK2 gene hyperactivate LRRK2 kinase activity, leading to increased phosphorylation of a subset of RAB GTPases, which are master regulators of intracellular trafficking. In neurons, processive retrograde transport of autophagosomes is essential for autophagosome maturation and effective degradation of autophagosomal cargo in the axon. Here, we show that knockout of the LRRK2-counteracting RAB phosphatase PPM1H causes a gene-dose-dependent disruption of the axonal transport of autophagosomes, leading to impaired degradation of axonal alpha-synuclein (aSyn), a key protein in PD pathophysiology. Defective autophagosome transport and impaired aSyn degradation correlate with increased aSyn aggregation in primary PPM1H knockout neurons exposed to preformed fibrils of aSyn, an effect that is dependent on LRRK2 kinase activity. These findings mechanistically link LRRK2- mediated RAB hyperphosphorylation to defective autophagosomal degradation and enhanced aggregation of aSyn, positioning the LRRK2-RAB axis as a key driver of PD pathophysiology.
- Autistic vs. control differences in MRI scan quality across ABIDE-II sitesPublication . Pinheiro, João; Afonso, Beatriz; Seiça, Emanuel Cortesão de; Gonçalves, Rita; Ribeiro, Luís; Reis, JoanaBackground: Head motion and variability in scan quality remain major methodological challenges in autism neuroimaging. Large multi-site datasets such as ABIDE-II provide a unique opportunity to systematically quantify diagnostic differences in MRI data quality and assess the influence of site-level heterogeneity. Methods: Functional MRI Quality Assessment Protocol (QAP) metrics were combined with phenotypic data from ABIDE-II. Participants were classified as autistic (ASD) or typically developing (TD). Key quality metrics—including mean framewise displacement (mFD), proportion of volumes exceeding 0.20 mm (FD > 0.20), signal-to-noise ratio (SNR), and entropy focus criterion (EFC)—were analyzed alongside age, sex, IQ, and site. Group differences were evaluated using non parametric tests and linear mixed-effects models with site as a random factor. Additional analyses examined site-level heterogeneity and the impact of quality-control (QC) thresh olds on sample composition. Results: The final sample included 1277 participants (579 ASD; 698 TD) across 14 sites. ASD participants exhibited significantly greater head motion (median mFD = 0.101 vs. 0.081 mm; p < 1 × 10−10) and modest reductions in signal quality (lower SNR, higher EFC). Elevated motion in ASD was observed in 12 of 14 sites, although effect sizes varied substantially. Mixed-effects models confirmed that diagnosis remained a significant predictor of motion after adjusting for covariates. In contrast, signal-quality differences were small and largely explained by site effects. Simulated QC procedures disproportionately excluded ASD participants, with exclusion rates up to 31% compared to 18% in TD. Conclusions: ASD participants show consistently higher head motion, while signal-quality differences are minimal and largely site-driven. Standard QC procedures disproportionately exclude ASD individuals, highlighting the need for improved motion handling and more balanced quality-control strategies in multi-site studies.
- Exploring the perspectives of professionals involved in refugee and asylum seekers’ reception and integration on access and utilization of healthcare: a qualitative studyPublication . Pinto de Oliveira, Ana; Loesch, Regina; Conceição, Cláudia; Fronteira, InêsBackground In recent years, the number of displaced persons due to conflict, persecution, and environmental crises has significantly increased, leading to a large influx of refugees and asylum seekers in European countries, including Portugal. While the Portuguese National Health Service guarantees universal access to healthcare, numerous barriers still hinder the effective access and use of health services by refugee populations, particularly for the prevention and management of non-communicable diseases. This qualitative study aimed to explore the perspectives of professionals involved in refugee reception and integration regarding barriers to accessing and utilizing healthcare, with a particular focus on non-communicable diseases. Methods A qualitative study informed by phenomenological principles was conducted. Semi-structured interviews were conducted with individual participants from December 2022 to March 2023, transcribed verbatim, and analysed using reflexive thematic analysis, informed by phenomenological principles. Results Thirteen professionals from healthcare, reception, and integration sectors participated. Participants described a high burden of non-communicable diseases, particularly mental health conditions, alongside common risk factors such as unhealthy diets, sedentary lifestyles, and psychosocial distress. Barriers to healthcare access included cultural and linguistic challenges, bureaucratic complexity, and socioeconomic constraints. Facilitators - though less mentioned - included the involvement of cultural mediators, flexible service delivery, and intersectoral collaboration. Both refugees and professionals were described as adopting informal strategies to navigate systemic barriers. Conclusion This study provides insight into how professionals perceive refugees and asylum seekers’ health needs and their access to healthcare in Portugal. Findings highlight the interplay of structural, linguistic, cultural, and socioeconomic factors shaping healthcare utilisation, informing the development of more equitable and culturally responsive health strategies.
- Commentary to concerns regarding the assessment of clinical reasoning in medical studentsPublication . Collares, Carlos; Pleguezuelos, Eduardo; Hornos, EduardoWe thank Supianto [1] for the thoughtful remarks on Hornos et al. [2]. We welcome the opportunity to clarify our methodological choices and findings. We respectfully disagree with the assertion that Cronbach’s alpha and McDonald’s omega are reliability coefficients that should be limited to knowledge-based tests. These internal consistency methods to estimate reliability have broad applications across different types of educational and psychological assessments using multiitem measurement scales. Furthermore, McDonald’s omega offers advantages over Cronbach’s alpha as it accounts for factor loadings [3], making it more suitable for complex constructs like clinical reasoning.
- Autoantibodies against myelin oligodendrocyte glycoprotein in a subgroup of patients with psychotic symptomsPublication . Burgt, Nikita A. van de; Kulsvehagen, Laila; Mané-Damas, Marina; Lutz, Luc; Lecourt, Anne-Catherine; Monserrat, Clara; Vinke, Anita M.; Küçükali, Cem İ.; Zong, Shenghua; Hoffmann, Carolin; González-Vioque, Emiliano; Arango, Celso; Leibold, Nicole K.; Losen, Mario; Molenaar, Peter C.; Tüzün, Erdem; Beveren, Nico J. M. van; Mané, Anna; Rouhl, Rob P. W.; Amelsvoort, Therese A. M. J. van; Pröbstel, Anne-Katrin; Martinez-Martinez, PilarThe presence of autoantibodies against myelin oligodendrocyte glycoprotein (MOG) is a hallmark of MOG antibody-associated disease (MOGAD), a recently defined demyelinating disease entity presenting with core clinical features of optic neuritis, myelitis, and acute disseminated encephalomyelitis. Although MOG antibodies have also been described in a small number of patients with other conditions, including mental disorders, their prevalence and clinical specificity in patients with isolated psychotic symptoms remain unclear. Here, we screened sera from 262 patients with at least one psychotic episode and 166 control subjects for the presence of MOG antibodies of the immunoglobulin G (IgG) isotype with a live cell-based assay. Serum reactivity to additional antigens was assessed by immunohistochemistry. Four patients, representing 1.5% of the patient cohort, and one control individual, representing. 0.6% of the healthy control cohort, were seropositive for MOG-IgG antibodies. Of the four MOG-IgG seropositive patients, three experienced visual hallucinations. Overall, MOG antibodies were detected at a low frequency in patients with psychotic episodes. While we cannot exclude the possibility of false-positive results or seroconversion due to secondary myelin damage, the association with visual hallucinations in three out of four MOG-IgG seropositive patients may point toward an underlying autoimmune etiology.
- 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.
- How artificial intelligence can enable personalized mesenchymal stem cell–based therapeutic strategies in systemic lupus erythematosusPublication . Kumar, Sushmitha Rajeev; He, Khor Kai; Lokanathan, Yogeswaran; Gaurav, Anand; Yusoff, Khatijah; Macedo, M. Fatima; Bhassu, SubhaMesenchymal Stromal Cells (MSCs) are increasingly recognized as promising candidates for treating Systemic Lupus Erythematosus (SLE) due to their immunomodulatory and regenerative properties. However, their therapeutic efficacy remains inconsistent, largely due to the heterogeneity of MSC origins, culture conditions, cell quality, host immune interactions, and the influence of immunosuppressive treatments. Artificial Intelligence (AI) offers powerful tools to address these challenges by optimising MSC modification and application. This review explores how AI can identify optimal genetic and epigenetic targets, predict MSC behaviour under different environmental and priming conditions, and design personalise therapies tailored to individual patients. Moreover, AI enables the analysis of extensive datasets to refine dosing strategies and improve the integration of MSC therapy with immunosuppressants. By enhancing the precision, consistency, and personalisation of MSC-based interventions, AI has the potential to significantly improve therapeutic outcomes in SLE, advancing the field toward more effective and patient-centred autoimmune disease management.
- 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.