Browsing by Author "Oliveira, Raquel"
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- Common mechanistic pathways in rare congenital syndromes with primary microcephalyPublication . Jorge, Xavier; Milagre, Ines; Ferreira, Anita; Calado, Sofia; Oliveira, Raquel; Carvalhal, SaraPrimary microcephaly is an often-seen phenotype in several rare congenital syndromes. It is characterised by a smaller brain size at birth compared to the norm. The causes of this malformation are not fully understood, but genetic testing suggests a connection with defective genes involved in mitotic regulation and proteins related to DNA repair and replication pathways. Cohesinopathies represent a group of rare syndromes, where several subtypes exhibit spontaneous railroad chromosomes and primary microcephaly. This includes Roberts Syndrome, Warsaw Breakage Syndrome and a recently characterised syndrome caused by mutations in the BUB1 gene. Currently, we are examining fibroblast cells from patients with these syndromes to identify common mechanistic pathways. In this context, we have identified a new promising candidate: Topoisomerase II alpha, a protein responsible for resolving of the DNA catenation both in the DNA replication and mitosis. Defective localisation of Topoisomerase II alpha may contribute to the observed mitotic defects in these cells. We are currently exploring the impact of these defects on brain development using reprogramming techniques to assess proper neuronal differentiation.
- Ethics 4.0: ethical dilemmas in healthcare mediated by social robotsPublication . Soares, Antonio; Piçarra, Nuno; Giger, Jean-Christophe; Oliveira, Raquel; Arriaga, PatríciaThis study examined people's moral judgments and trait perception toward a healthcare agent's response to a patient who refuses to take medication. A sample of 524 participants was randomly assigned to one of eight vignettes in which the type of healthcare agent (human vs. robot), the use of a health message framing (emphasizing health-losses for not taking vs. health-gains in taking the medication), and the ethical decision (respect the autonomy vs. beneficence/nonmaleficence) were manipulated to investigate their effects on moral judgments (acceptance and responsibility) and traits perception (warmth, competence, trustworthiness). The results indicated that moral acceptance was higher when the agents respected the patient's autonomy than when the agents prioritized beneficence/nonmaleficence. Moral responsibility and perceived warmth were higher for the human agent than for the robot, and the agent who respected the patient's autonomy was perceived as warmer, but less competent and trustworthy than the agent who decided for the patient's beneficence/nonmaleficence. Agents who prioritized beneficence/nonmaleficence and framed the health gains were also perceived as more trustworthy. Our findings contribute to the understanding of moral judgments in the healthcare domain mediated by both healthcare humans and artificial agents.
- Food-related quality of life and its predictors in inflammatory bowel diseasePublication . Oliveira, Raquel; Martins, Viviana; Sousa, Helena Tavares; Roseira, JoanaBackground Inflammatory bowel disease (IBD) is associated with dietary restrictions and food- and drink-driven daily life limitations. Food-related quality of life (FR-QoL) is still an under-addressed issue in IBD. Aim We aimed to study determinants of FR-QoL in an IBD cohort, namely objective measures of disease activity. Methods A cross-sectional case-control study was conducted in a Tertiary Hospital, including adult patients with IBD (cases) and blood donors or subjects referred for colorectal polypectomies (controls). Participants answered an anonymous multimodal questionnaire including sociodemographic and clinical data, the validated FR-QoL-29, and the SIBDQ tools. Patients' disease activity was previously assessed by a physician using symptom-based scores and biomarkers (Harvey-Bradshaw index, partial Mayo score, fecal calprotectin). Results A total of 239 patients with IBD and 126 controls were included. Patients with active disease had poorer FR-QoL than patients in remission (80.0 [56.0-99.0] vs. 103.5 [81.0-129.9], p < 0.001). Still, patients with IBD had significantly lower FR-QoL compared with controls (99.0 [76.0-126.0] vs. 126.0 [102.8-143.0], p < 0.001), irrespective of disease activity. FR-QoL correlated with health-related quality of life, measured by SIBDQ (r = 0.490, p < 0.001), and was significantly impaired by patients' depressive humor (84.0 [61.0-112.0] vs. 108.0 [88.0-130.5], p < 0.001). Globally, FR-QoL compromise was mostly related to persistent worries about food, concerns about food-related symptoms, and life disruption due to eating and drinking. Conclusions Patients with IBD showed significant FR-QoL impairment, irrespective of disease type and activity. Related psychosocial factors, such as the patient's affective status and fear around eating, warrant a need for a multidisciplinary approach to IBD, including tailored nutritional counseling.
- Food-related quality of life in inflammatory bowel disease: translation and validation of food-related quality of life to the portuguese language (FR-QoL-29-Portuguese)Publication . Oliveira, Raquel; Martins, Viviana Maria Varajão; Teixeira, Laetitia; Sousa, Helena Tavares; Roseira, JoanaFood-related quality of life (FR-QoL) has been shown to be an important patient-reported outcome in inflammatory bowel disease (IBD). We aimed to translate and validate a Portuguese version of the FR-QoL-29. Methods: This was a case-control cross-sectional study undertaken at a tertiary hospital. After obtaining the original authors' authorization, both forward and backward translations of the original FR-QoL-29 were performed by bilingual researchers. After an IBD expert's revision and the input of a small group of patients, a final version was obtained. Portuguese IBD patients were prospectively recruited from the outpatient clinic of a tertiary hospital and completed the questionnaire at two timepoints (0 and 4 weeks). Reliability (internal consistency, test-retest, and intraclass correlation [ICC]), validity (content and convergent validity, and hypothesis testing using Spearman's correlations), and responsiveness (Student t tests) were analysed. Results: 239 patients (mean age 50.1 [SD = 15.3 years], 56.5% female) and 87 (36.4%) patients answered the questionnaire at the first and second timepoints, respectively; 126 controls answered the questionnaire. Overall, the FR-QoL-29-Portuguese showed excellent internal consistency (Cronbach's alpha = 0.97) and good test-retest reliability (ICC = 0.78 [95% CI: 0.64-0.85]). FR-QoL moderately correlated with health-related quality of life, measured by the SIBDQ-PT (R = 0.49; p < 0.05). Lastly, the questionnaire revealed appropriate responsiveness when patients reported an overall improvement in general well-being (mean improvement 25.88 [SD = 32.50]; p < 0.05). Discussion/Conclusions: We present an adaptation and validation of the FR-QoL-29 tool for Portuguese IBD patients. The FR-QoL-29-Portuguese is a reliable and valid tool shown to be responsive to changes in general well-being.
- Inter rater disagreements in applying the montreal classification for Crohn's disease: the five nations survey studyPublication . Ukashi, Offir; Amiot, Aurelien; Laharie, David; Menchén, Luis; Gutiérrez, Ana; Fernandes, Samuel; Pessarelli, Tommaso; Correia, Fábio; Gonzalez‐Muñoza, Carlos; López‐Cardona, Julia; Calabrese, Giulio; Ferreiro‐Iglesias, Rocio; Degabli, Natalie Tamir; Dussias, Nikolas Konstantine; Mousa, Amjad; Oliveira, Raquel; Richard, Nicolas; Veisman, Ido; Sharif, Kassem; Ben‐Horin, Shomron; Soutullo‐Castiñeiras, Carlos; Dragoni, Gabriele; Rotulo, Silvia; Favale, Agnese; Calméjane, Louis; Bazin, Thomas; Elosua, Alfonso; Lopes, Sara; Felice, Carla; Mauriz, Violeta; Rodrigues, Inês Coelho; Jougon, Julia; Botto, Inês; Sousa, Helena Tavares de; Bertani, Lorenzo; Abadía, Paula Ripoll; De Bernardi, Alice; Zabana, Yamile; Serra‐Ruiz, Xavier; Viola, Anna; Acosta, Manuel Barreiro de; Yanai, Henit; Armuzzi, Alessandro; Magro, Fernando; Kopylov, UriBackground: The Montreal classification has been widely used in Crohn's disease since 2005 to categorize patients by the age of onset (A), disease location (L), behavior (B), and upper gastrointestinal tract and perianal involvement. With evolving management paradigms in Crohn's disease, we aimed to assess the performance of gastroenterologists in applying the Montreal classification. Methods: An online survey was conducted among participants at an international educational conference on inflammatory bowel diseases. Participants classified 20 theoretical Crohn's disease cases using the Montreal classification. Agreement rates with the inflammatory bowel diseases board (three expert gastroenterologists whose consensus rating was considered the gold standard) were calculated for gastroenterologist specialists and fellows/specialists with ≤ 2 years of clinical experience. A majority vote < 75% among participants was considered a notable disagreement. The same cases were classified using three large language models (LLMs), ChatGPT‐4, Claude‐3, and Gemini‐1.5, and assessed for agreement with the board and gastroenterologists. Fleiss Kappa was used to assess within‐group agreement. Results: Thirty‐eight participants from five countries completed the survey. In defining the Montreal classification as a whole, specialists (21/38 [55%]) had a higher agreement rate with the board compared to fellows/young specialists (17/38 [45%]) (58% vs. 49%, p = 0.012) and to LLMs (58% vs. 18%, p < 0.001). Disease behavior classification was the most challenging, with 76% agreement among specialists and fellows/young specialists and 48% among LLMs compared to the inflammatory bowel diseases board. Regarding disease behavior, within‐group agreement was moderate (specialists: k = 0.522, fellows/young specialists: k = 0.532, LLMs: k = 0.577; p < 0.001 for all). Notable points of disagreement included: defining disease behavior concerning obstructive symptoms, assessing disease extent via video capsule endoscopy, and evaluating treatment‐related reversibility of the disease phenotype. Conclusions: There is significant inter‐rater disagreement in applying the Montreal classification, particularly for disease behavior in Crohn's disease. Improved education or revisions to phenotype
- Rates of adverse events in patients with Ulcerative Colitis undergoing colectomy during treatment with Tofacitinib vs Biologics: A multicenter observational studyPublication . Dragoni, Gabriele; Innocenti, Tommaso; Amiot, Aurelién; Castiglione, Fabiana; Melotti, Laura; Festa, Stefano; Savarino, Edoardo Vincenzo; Truyens, Marie; Argyriou, Konstantinos; Noviello, Daniele; Molnar, Tamas; Bouillon, Vincent; Bezzio, Cristina; Eder, Piotr; Fernandes, Samuel; Kagramanova, Anna; Armuzzi, Alessandro; Oliveira, Raquel; Viola, Anna; Ribaldone, Davide Giuseppe; Drygiannakis, Ioannis; Viganò, Chiara; Calella, Francesca; Gravina, Antonietta Gerarda; Pugliese, Daniela; Chaparro, María; Ellul, Pierre; Vieujean, Sophie; Milla, Monica; Caprioli, FlavioINTRODUCTION: Patients with ulcerative colitis (UC) receiving immunosuppressive drugs are at substantial risk of colectomy. We aimed to assess the risk of postoperative complications of tofacitinib exposure before colectomy in comparison with biologics. METHODS: A multicenter, retrospective, observational study was conducted in patients with UC who underwent total colectomy for medically refractory disease, exposed to tofacitinib or a biologic before surgery. Primary outcome was the occurrence of any complication within 30 (early) and 90 (late) days after surgery. Secondary outcomes were the occurrence of infections, sepsis, surgical site complications, venous thromboembolic events (VTE), hospital readmissions, and redo surgery within the same timepoints. RESULTS: Three hundred one patients (64 tofacitinib, 162 anti-tumor necrosis factor-alpha agents, 54 vedolizumab, and 21 ustekinumab) were included. No significant differences were reported in any outcome, except for a higher rate of early VTE with anti-tumor necrosis factor-alpha agents (P = 0.047) and of late VTE with vedolizumab (P = 0.03). In the multivariate analysis, drug class was not associated with a higher risk of any early and late complications. Urgent colectomy increased the risk of any early (odds ratio [OR] 1.92, 95% confidence interval [CI] 1.06-3.48) complications, early hospital readmission (OR 4.79, 95% CI 1.12-20.58), and early redo surgery (OR 7.49, 95% CI 1.17-47.85). A high steroid dose increased the risk of any early complications (OR 1.96, 95% CI 1.08-3.57), early surgical site complications (OR 2.03, 95% CI 1.01-4.09), and early redo surgery (OR 7.52, 95% CI 1.42-39.82). Laparoscopic surgery decreased the risk of any early complications (OR 0.54, 95% CI 0.29-1.00), early infections (OR 0.39, 95% CI 0.18-0.85), and late hospital readmissions (OR 0.34, 95% CI 0.12-1.00). DISCUSSION: Preoperative tofacitinib treatment demonstrated a postoperative safety profile comparable with biologics in patients with UC undergoing colectomy.
- Rewired glycosylation activity promotes scarless regeneration and functional recovery in spiny mice after complete spinal cord transectionPublication . Nogueira-Rodrigues, Joana; Leite, Sérgio C.; Pinto-Costa, Rita; Sousa, Sara C.; Luz, Liliana L.; Sintra, Maria A.; Oliveira, Raquel; Monteiro, Ana C.; Pinheiro, Gonçalo; Vitorino, Marta; Silva, Joana A.; S, Simão; Vitor Fernandes, Dr; Provazník, Jan; Benes, Vladimir; Cruz, Célia D.; Safronov, Boris V.; Magalhães, Ana; Reis, Celso A.; Vieira, Jorge; Vieira, Cristina P.; Tiscórnia, Gustavo; Araujo, Ines; Sousa, Mónica M.Regeneration of adult mammalian central nervous system (CNS) axons is abortive, resulting in inability to recover function after CNS lesion, including spinal cord injury (SCI). Here, we show that the spiny mouse (Acomys) is an exception to other mammals, being capable of spontaneous and fast restoration of function after severe SCI, re-establishing hind limb coordination. Remarkably, Acomys assembles a scarless pro-regenerative tissue at the injury site, providing a unique structural continuity of the initial spinal cord geometry. The Acomys SCI site shows robust axon regeneration of multiple tracts, synapse formation, and electrophysiological signal propagation. Transcriptomic analysis of the spinal cord following transcriptome reconstruction revealed that Acomys rewires glycosylation biosynthetic pathways, culminating in a specific pro-regenerative proteoglycan signature at SCI site. Our work uncovers that a glycosylation switch is critical for axon regeneration after SCI and identifies beta 3gnt7, a crucial enzyme of keratan sulfate biosynthesis, as an enhancer of axon growth.