Faculdade de Medicina e Ciências Biomédicas
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- 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.
- 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.
- Frailty and outcomes in elderly ICU patients: insights from a portuguese cohortPublication . Lourenço, Eva; Rodrigues, Isabel; Sampaio, Mário; da Costa, EmiliaBackground: Frailty is a key determinant of outcomes in critically ill elderly patients, but data from Portugal remain limited. To our knowledge, this is the first study to examine the prevalence and prognostic impact of frailty among elderly ICU patients in a Portuguese hospital setting. Objective: To determine the prevalence of frailty among elderly patients admitted to an intensive care unit (ICU) in southern Portugal and to examine its crude associations with illness severity, organ support, and mortality outcomes. Methods: We conducted a retrospective cohort study including 125 patients aged ≥ 65 years admitted to the polyvalent ICU of Hospital de Faro over the last six months of 2024. Data included demographics, comorbidities, Charlson Comorbidity Index (CCI), severity scores (SOFA, SAPS II, APACHE II), and frailty status assessed by the Clinical Frailty Scale (CFS). Outcomes were the need for organ support, ICU and hospital mortality, and length of stay. Results: Frailty (CFS ≥ 5) was identified in 30.4% of patients. Frail patients were older, had higher comorbidity burden (CCI), and presented with significantly higher severity scores at admission. They also required more invasive support, including vasopressors and invasive mechanical ventilation, while acute kidney injury (AKI) requiring renal replacement therapy (RRT) was similar between groups. ICU mortality was significantly higher among frail patients (50.0% vs. 31.0%), as was hospital mortality (76.3% vs. 33.3%). Length of ICU stay did not differ, although frail patients tended to have longer hospitalizations overall. Conclusions: Frailty was highly prevalent and strongly associated with increased severity, greater need for organ support, and higher mortality. Routine frailty assessment at ICU admission may enhance prognostic accuracy and support patient-centered decision-making.
- Genetic diversity of rotavirus A causing diarrhea in patients admitted to the Clinic University Hospital in Valencia, Spain (2022-2024)Publication . Conjo, Carolina da Glória Dinis; Ferreira, Bibiana I.; Gomez, Javier Buesa; Deus, Nilsa deA diarreia é uma das principais causas de mortalidade infantil em todo o mundo, e o rotavírus destaca-se como o principal agente etiológico associado. Neste contexto, muitos países introduziram a vacina contra o rotavírus no seu calendário de vacinação infantil, incluindo a Espanha. No entanto, a carga das doenças diarreicas continua elevada. Existe uma lacuna de informação em relação a infecção por rotavírus em pacientes que não tenham idade pediátrica e muitos fatores podem estar implicados na suscetibilidade a infeção por rotavírus entre eles os fatores genéticos do hospedeiro denominados Histo Blood Group Antigens (HBGA´s), que podem reconhecer agentes entéricos que modulam doenças entéricas infecciosas, conferindo risco ou suscetibilidade à população. Foi realizada uma análise transversal de dados de base hospitalar, de abril de 2022 a fevereiro de 2024, em 136 pacientes atendidos com diarreia no Hospital Clínico Universitário de Valência. A triagem inicial das amostras foi feita por Real-Time PCR no Hospital Clínico Universitário de Valencia, 136 amostras foram positivas para Rotavírus A (RVA) e testadas por RT-PCR para a identificação do genótipo no laboratório de Microbiologia da Universidade de Valência. A maior diversidade de estirpes de rotavírus foi encontrada em crianças menores de 2 anos e os genótipos mais comuns nesta faixa etária foram G4P[8] e G12P[8]. Cerca de 26,5% das amostras eram não tipificáveis, 16,9% correspondiam a G4P[8], 16,2% eram NTP[8] e 11,8% eram G12P[8]. A sazonalidade foi associada à distribuição das estirpes de rotavírus (p-valor<0,001), com maior pico de infecção em maio, julho e abril de 2023. O status secretor do gene FUT2 foi determinado em 7,7% (2/26) das amostras testadas. A presente análise mostrou uma alta proporção de infecção e diversidade genotípica em crianças com menos de 24 meses de idade. No futuro, será necessário investigar a diversidade genética e a dinâmica evolutiva das estirpes de rotavírus. Embora o estudo tenha encontrado dificuldades na determinação do status secretor para FUT2 a partir das amostras fecais, apresentou informações inovadoras sobre o potencial e as limitações desta abordagem.
- 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.
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