FCB2-Artigos (em revistas ou actas indexadas)
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- Mental illness risk prediction in high school students using artificial neural networkPublication . Encarnação, Samuel; Vaz, Paula Fortunato; Vaz, Filipe; Fortunato, Álvaro; Monteiro, António Miguel de BarrosIntroduction: The sustainable development goals of the United Nations 2030 agenda, goal number 3 – Good health and well-being- align with student mental health. Objective: To conduct an artificial neural network (ANN) to predict the students' self-reported mental health dimensions. Methods: A cross-sectional and observational study enrolling sociodemographic and health state data from 2050 university students aged (18–30 years). Results: The best algorithm's result was by predicting the students' depressive state with 97 % accuracy (weighted average = [precision = 0.79 %, recall = 0.79 %, F-1 score 0 0.79 %, cross-validation (73 %)]), while dimensions such overall mental health self-perception (validation accuracy = 60 %) and lack of interest in performing their activities of daily living [(ADLs), validation accuracy = 67 %], presented inferior predictions. Conclusions: The ANN best predicted the university students' depressive state (73 %).
- Exploring the clinical benefits of genomic profiling for advanced solid tumors in Portugal.Publication . Tavares, Nuno; Damaso, Sara; Brás, Raquel Lopes; Guedes, Helena; Simões, Pedro; Rodrigues, Tania; Costa, Diogo Alpuim; Bonito, Nuno Antunes; Pratas, Edgar; Macedo, Daniela; Filipe, Frederico Ferreira; Martins Cavaco, Ana Cláudia; Pavanello, Marina; Costa, LuisBackground: Comprehensive genomic profiling (CGP) plays a significant role in precision oncology by pairing genomic alterations from different tumor types with molecularly targeted therapies. However, the evaluation of its real-world impact, clinical utility, and effects on quality of life remain unexplored. The FRONTAL study (Foundation medicine Real wOrld evideNce in porTugAL) is an ongoing multicentric academic study that aims to establish a national registry of portuguese patients with solid tumors that underwent CGP through Foundation Medicine tests (FoundationOne CDx, Liquid CDx, and Heme). Methods: The study enrolled portuguese patients diagnosed with advanced solid tumors who were not eligible for curative treatment at the time of recruitment. Patients who had previously done CGP evaluation could be included if the test was conducted within one year before the start of the study. CGP data was retrieved from the Foundation Medicine reports and clinical data from the medical records. Actionable genomic findings were reported if associated to therapies for the patient’s tumor type or with proven clinical benefit in other tumor types based on the NCCN Categories of Evidence and Consensus. In addition, quality of life questionnaires (QLQ-C30) were collected for a subset of patients. The primary outcome was a binary endpoint of disease control at 16 weeks of treatment, defined by the absence of progression at that timepoint. Results: Genomic and real-world clinical data were collected and analyzed for 146 patients ( . 70% of the cohort), from 10 different sites in Portugal. Several cancer types were included, with colorectal tumors being the most common (19%), followed by sarcomas (18%) and pancreatic tumors (12%). According to the Foundation Medicine reports, actionable molecular alterations were described in 52% of the cohort. Twenty-three percent of the patients had their therapeutic decision changed due to the CGP result. The most frequent alterations among these patients included high tumor mutational burden (TMB) and/or microsatellite instability (MSI) (35%), as well as pathogenic mutations in PIK3CA (15%) and ATM (12%). Forty-three percent of patients with changed therapy were reported to have achieved disease control at 16 weeks of treatment. Half of the patients with disease control had either high TMB, MSI, or BRAF mutations, reinforcing that evaluating actionable alterations with tissue-agnostic FDA approvals benefit oncology patients. Conclusions: The FRONTAL study highlights the clinical utility of CGP in advanced solid tumors. We identified actionable alterations in 52% of patients, leading to changes in treatment for 23% of the cohort. These findings support the value of CGP in guiding personalized therapies and emphasize the need for further research into its impact on patient outcomes and quality of life. Research Sponsor: None.
- Assessing the role of CT imaging in identifying candidates for neoadjuvant chemotherapy in right colon cancer: a critical analysisPublication . Lopes, João Leão; Soares, Ana Sofia S.; Mendes, Beatriz; Tomada, Elisa Paoluzzi; Cunha, Miguel F.; Melina Fernandez, Laura; Amorim, Edgar; Azevedo, José; Parvaiz, AmjadBackground and purpose Standard treatment for localized right colon cancer is radical surgery, followed by adjuvant chemotherapy for stage III or intermediate MSS and high-risk stage II tumours. Recent studies suggest a benefit from neoadjuvant chemotherapy (NAC), particularly for T4b and/or N+tumours. Patient selection for NAC relies on CT-based clinical staging, but the accuracy of CT in detecting high-risk features is variable, raising concerns about potential overtreatment. The study aims to demonstrate the accuracy of CT staging of the right colon with the purpose of indicating neoadjuvant CT. Methods Patients undergoing curative right hemicolectomy between 2013 and 2023 at two Portuguese institutions were included. All had preoperative CT; those receiving NAC were excluded. Sensitivity, specificity, positive predictive value, and negative predictive value of CT in identifying T4b and N+tumours were calculated by comparing clinical (cTNM) and pathological (pTNM) staging. Results Among 165 patients (48% male, mean age 70.5 years), CT showed low sensitivity (26%) but high specificity (91%) for pT4b tumours, with a tendency toward understaging. For nodal disease, sensitivity was 87% and specificity 41%. Only 57% of cT4b and/or cN+cases confirmed at least one unfavorable pathological factor, implying potential overtreatment in 43% of patients if NAC were applied solely based on CT findings. Conclusion CT remains the standard for clinical staging but demonstrates limited accuracy in identifying high-risk right colon cancers. NAC decisions should integrate additional criteria beyond CT findings to avoid overtreatment.
- 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.
- 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
- Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart diseasePublication . Tabrizi, Fateme; Khatami, Mehri; Heidari, Mohammad Mehdi; Bragança, José; Tatari, Hasan; Namnabat, Hasan; Hadadzadeh, Mehdi; Shirazi, Mohammad Ali NavabiBackground Congenital heart disease (CHD) is the most prevalent developmental defect and principal cause of infant mortality and affects cardiac and large blood vessel structures in approximately 1% of live births worldwide. To date, numerous studies have related critical genetic dysfunctions to the pathogenesis of CHDs. However, the genetic basis underlying CHD remains largely unknown. In the present study, we investigated the association of nucleotide variations in coding and noncoding regions of the HAND1 gene with the risk of CHD. The HAND1 gene, encoding a helix-loop-helix transcription factor, is particularly relevant for mechanisms underlying CHD since it plays a significant role in heart development. Methods and results The genomic DNA of 150 unrelated pediatric patients with CHD was screened by PCR-SSCP and direct sequencing. Four novel and heterozygous missense mutations were identified in the first exon, with three causing amino acid substitutions (p.Val149Met, p.Tyr142His, and p.Leu146Met). In-silico analysis also indicated their deleterious impact on protein structure and function. In addition, we identified five novel nucleotide variants in the 3′UTR region (c.*461, c.*342, c.*529, c.*448, c.*593), potentially altering the target sites of miRNAs. These changes include the loss of certain target sites and the acquisition of new ones. Conclusions These findings confirm the phenotypic association between CHDs and HAND1 mutations and can pave the way for developing new preventive and therapeutic strategies.
- 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.
- Maternal thyroid hormone is required to develop the hindbrain vasculature in zebrafishPublication . Trindade, Marlene; Silva, Nádia; Rodrigues, Joana; Kawakami, Koichi; Campinho, Marco AntónioThyroid hormone (TH) signaling is important and necessary for proper neurodevelopment. Inadequate levels of maternally derived THs (MTH) supply affect target gene expression profiles, which are fundamental for the brain’s normal growth, maturation, and function. The monocarboxylate transporter 8 (SLC16A2, MCT8) is the main TH transporter present in the brain during embryonic development, and mutations in this transporter lead to a rare and debilitating human condition known as the Allan-Herndon-Dudley Syndrome (AHDS). This mutation affects the capacity for intracellular transport of the hormone, leading to impaired brain development that constitutes the main pathophysiological basis of AHDS. Like humans, zebrafish embryos express slc16a2 that transports exclusively T3 at zebrafish physiological temperature. Studies in zebrafish Mct8 knockdown (KD) models found impaired hindbrain vasculature development. Here, using zebrafish Mct8 KD and knockout (KO) models, we shed light on the maternal T3 (MT3)-dependent developmental mechanism behind hindbrain vasculature development. We first demonstrate that MT3-regulates hindbrain vegfaa expression. We provide evidence that hindbrain neurons are not the source of vegfaa, instead, restricted pax6a+ neuroprogenitor cells (NPCs) instruct central arteries (CtAs) ingression into the hindbrain. Therefore, MT3 acts as an integrator, providing the regulatory cues necessary for the timely ingression of the CtAs into the hindbrain.
- 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.
- P0463 Distinct hepcidin dynamics in crohn’s disease and ulcerative colitis: links to iron homeostasis and inflammatory activityPublication . Magro, F.; Santos, M. P. Ministro dos; Sousa, Helena Tavares; Roseira, Joana; Fernandes, S. R.; Crespo, R.; Dias, S.; Beatriz, D.; Dias, C. C.; Miranda, R.; Santiago, M.; Portela, F.Background: Hepcidin, the master regulator of systemic iron metabolism, is influenced by iron availability and inflammation.1 In inflammatory bowel disease (IBD), iron deficiency and anaemia are common, yet how hepcidin is regulated in relation to disease phenotype, iron status and inflammatory burden remains incompletely understood.2 We aimed to characterise hepcidin regulation in ulcerative colitis (UC) and Crohn’s disease (CD) according to iron status and inflammatory markers. Methods: In this cross-sectional multicentre study, 589 individuals were enrolled (178 healthy controls, 130 UC, 281CD). Patients were stratified by iron status and activity. Serum hepcidin, iron parameters, and inflammatory and clinical data were collected. Iron deficiency was defined using the ECCO criteria2 , which focuses on ferritin, and a combined ferritin and transferrin saturation definition. Group comparisons, correlations, and multivariable linear regressions were performed. Results: Hepcidin correlated positively with C-reactive protein (CRP) in CD (r=0.125; p=0.038) and negatively with faecal calprotectin (FCAL) in UC (r=-0.311; p.