FCB2-Artigos (em revistas ou actas indexadas)
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Percorrer FCB2-Artigos (em revistas ou actas indexadas) por Objetivos de Desenvolvimento Sustentável (ODS) "10:Reduzir as Desigualdades"
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- 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.
- 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.
- The burden of COVID-19 care in community and academic intensive care units in Ontario, Canada: a retrospective cohort studyPublication . Pestana, Daniel; Joshi, Divya; Duan, Erick; Fowler, Robert; Tsang, Jennifer; Binnie, AlexandraDuring the COVID-19 pandemic, neighbourhoods with high material deprivation and high proportions of racialized Canadians were disproportionately affected by COVID-19. Many of these neighbourhoods were served by community hospitals. We sought to compare the burden of COVID-19 care in community and academic intensive care units (ICUs) in Ontario, Canada. We included all adult patients admitted to Ontario ICUs with COVID-19 between 1 March 2020 and 31 July 2021 in a retrospective cohort study. We compared patient volumes, demographics, interventions, and outcomes between community hospital corporations (CHCs) and academic hospital corporations (AHCs). During the first three waves of the pandemic, 9,651 adult ICU admissions for COVID-19 were reported across 72 hospital corporations in Ontario: 6,902 (71.5%) in CHCs and 2,749 (28.5%) in AHCs. Days of ICU care per baseline ICU bed were highest in large CHCs ([ 10 baseline ICU beds) relative to AHCs and small CHCs (median [interquartile range], 73.7 [53.8–110.6] vs 42.2 [32.7–71.8] vs 21.4 [7.2–40.3]; Kruskal–Wallis test, P \ 0.001). Among direct ICU admissions, CHC patients had greater severity of illness whereas among transfer ICU admissions, AHC patients were more severely ill. In a multivariable logistic regression model, mortality was similar among patients with index admission to a CHC or AHC; however, patients with index admission to an AHC were more likely to receive extracorporeal membrane oxygenation (adjusted odds ratio, 6.16; 95% confidence interval, 4.72 to 8.11). During the pandemic, Ontario’s large CHCs provided significantly more days of ICU COVID-19 care per baseline ICU bed compared with AHCs and small CHCs. Equipping large CHCs to handle ICU surges during future emerging disease outbreaks should be a priority for pandemic preparedness.
- 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.
- 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.
- 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
- Detection of a pulmonary mass using lung ultrasound in pre-hospital carePublication . Miravent, Sérgio; Figueiredo, Teresa; Costa Vicente, Bianca IsabelAlthough lung ultrasound (LUS) has limitations in detecting pulmonary masses, especially small or deep-seated lesions that may be obscured by rib shadows or lung air content, screening ultrasound can still be a valuable tool for identifying these abnormalities in pre-hospital settings. It is especially helpful in situations where advanced tests like detailed blood analyses, biopsies, and the gold standard of computed tomography (CT) scans are not available. This portable, quick, and noninvasive technology can play a key role in detecting serious conditions and ensuring patients are referred to specialized care without unnecessary delays.
- Enhancing osteoporosis risk prediction using machine learning: a holistic approach integrating biomarkers and clinical dataPublication . Pires de Carvalho, Filipe Ricardo; Gavaia, PauloOsteoporosis (OP) affects approximately 18 % of the global population, with osteoporosis-associated fractures impacting up to 37 million people annually. While dual-energy X-ray absorptiometry (DXA) remains the gold standard for diagnosis, its limitations, including restricted availability and radiation exposure, highlight the need for alternative screening methods. We developed a machine learning model to predict OP risk using routinely collected clinical data, deliberately excluding DXA measurements to ensure broad accessibility. Using data from NHANES cycles 2007–2014, we analyzed 7924 participants aged 50 years and older, identifying 1636 OP cases (20.6 %) and 6288 normal cases (79.4 %) through comprehensive criteria incorporating both WHO densitometric standards (T-scores ≤ − 2.5) and anthropometric risk factors. We implemented a stacking ensemble model combining four specialized classifiers (Gradient Boosting, Random Forest, XGBoost, and LightGBM) with a logistic regression meta-classifier. The model achieved 93 % accuracy, an AUC of 0.94, and demonstrated robust performance through cross-validation (mean score: 0.929 ± 0.030). feature importance analysis revealed age (6.04 %), arm muscle circumference (5.61 %), and body weight (5.30 %) as the most influential predictors, followed by gender (3.28 %), BMI (2.71 %), and calcium intake (2.42 %). Additional significant predictors included folate (2.28 %), height (2.23 %), hand grip strength (2.21 %), and alkaline phosphatase (2.16 %). These biologically plausible relationships align with established clinical knowledge of OP risk factors. The model’s strong performance metrics and reliance on readily available clinical data suggest its potential as a practical screening tool, particularly in settings with limited DXA access. All code and implementation details are openly available on GitHub, facilitating integration into existing healthcare systems. This approach offers a promising pathway for enhancing early OP detection and risk assessment across diverse healthcare settings.
- 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.
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