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) "04:Educação de Qualidade"
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- Activity induced genes expression is impaired in polyglutamine spinocerebellar ataxiasPublication . Torquato Afonso, Inês; Vilhena Catarino Brito, David; Bading, Hilmar; Nóbrega, ClévioPolyglutamine Spinocerebellar ataxias (SCAs) are a group of 6 incurable genetic disorders, caused by an expansion of the trinucleotide cytosine-adenine-guanine in their causative genes, which produces a protein with an expanded glutamine region. This project focuses on the study of Spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) (1), which are rare dominantly inherited disorders that primarily impair the cerebellum therefore leading to motor ataxia. Activity-induced inhibitor of death (AID), are a group of pro-survival 9 genes which were found to be neuroprotector in several neurological disorders, including stroke, glaucoma, AD, HD, and ALS (2). In this project, we aim to investigate about the relevance of the expression of AID genes for cerebellum function and whether their expression levels are impaired in SCA2 and SCA3
- Development and psychometric validation of the Minho suture assessment scale (Minho-SAS) for medical studentsPublication . Gonçalves, Nuno Silva; Sousa, Rita Matos; Collares, Carlos; Pereira, Vítor Hugo; Pêgo, José Miguel; Anderson, M. BrownellIntroduction: Even though mastery of suturing is a core technical skill in surgical education, existing tools for its assessment often lack psychometric validation or are not specifically designed for undergraduate training. The aim of this study was to develop and validate the Minho Suture Assessment Scale (Minho-SAS), a structured instrument to evaluate fundamental suturing competencies in medical students. The research question was whether the Minho-SAS demonstrates validity and reliability as a psychometric tool. Methods: The development process involved collaboration with multidisciplinary surgical teams and experienced practitioners to ensure content validity. Data from a cohort of medical students were utilized for psychometric evaluation. Dimensionality was assessed using parallel analysis, Bayesian information criterion, unidimensional congruence, item unidimensional congruence, explained common variance, item explained common variance and mean of item residual absolute loadings. Validity based on internal structure was assessed with Rasch model analysis and factor analysis from the tetrachoric correlation matrix. Reliability was assessed using Rasch model standard errors of measurement to obtain a conditional reliability curve and Cronbach's alpha and McDonald's omega internal consistency coefficients. Results: Analyses supported a unidimensional structure for the Minho-SAS. The single-factor solution explained 39.96% of variance, and Rasch measures accounted for 29.15% (16.43% by persons, 12.72% by items). Residual correlations, factor loadings, and item fit statistics were within acceptable ranges. Reliability indices were satisfactory: Rasch reliability = 0.706; McDonald's omega = 0.889; Cronbach's alpha = 0.883. Conclusion: The Minho-SAS is a robust instrument specifically tailored for assessing fundamental suturing skills among medical students. Rasch model analysis yielded less favorable results than factor analysis, yet still acceptable. While demonstrating considerable potential, further exploration of Minho-SAS across diverse populations and educational settings is crucial to affirm its broader applicability and impact in medical education and clinical practice.
- Home mechanical ventilation in adults: clinical practice recommendations from the Portuguese respiratory society home mechanical ventilation assemblyPublication . Ribeiro, Carla; Gomes, Rita; Carreiro, Alexandra; Vieira, Ana Luísa; Seabra, Bárbara; Conde, Bebiana; Nogueira, Carla; Jácome, Cristina; Lages, Joana; Aguiar, Margarida; Grafino, Mónica; Pamplona, Paula; Cysneiros, Ana; Durães, Célia; Rodrigues, Cidália; Pimenta, Cidália; Cristóvão, Cristina; Rodrigues, Daniela; Ferreira, Diva; Gonçalves, Filipe; helena Chaves Ramos; Cravo, João; Silva, João Paulo; da Silva Cunha Granatin, Karl Jonathan; Méndez, Lucía; Zeller, Mafalda Van; Araújo, Márcia; Barata, Margarida; Raposo, Margarida; Redondo, Margarida; Jacob, Maria; Araújo, Maria João; Gonçalves, Miguel R.; Guia, Miguel; Faria, Nuno; Viegas, Pedro; Conde, Sara; Drummond, Marta; Pinto, PaulaBackground: The use of home mechanical ventilation (HMV) has been increasing worldwide, driven by widening of clinical applications and improved patient survival rates. In Portugal, recent data indicate an even faster growth, although national HMV recommendations have remained unchanged for 25 years. Research question: We aimed to provide an update in clinical practice guidelines for HMV in adults, applicable to the Portuguese context, grounded on the latest available evidence and experts' opinion. Study design and methods: A multidisciplinary panel with experience in HMV in the adult population was assembled. A comprehensive literature search was conducted during March 2023 regarding specific topics: equipment, ventilatory modes and interfaces, HMV initiation, follow-up and monitoring, disease specificities (neuromuscular diseases, obesity-hypoventilation syndrome, restrictive chest wall diseases; chronic obstructive pulmonary disease, and other diseases), home mechanical invasive ventilation, and palliative and end of life care. A 2-round Delphi process was conducted to establish consensus among panel members. A minimum agreement threshold of 80% was required. Results: Out of 88 recommendations initially included in the Delphi process, 61 were selected by consensus. Conclusion: Final recommendations grounded in the current level of evidence are outlined, and the key limitations and proposals for future research are discussed.
- Methylation status of the telomerase reverse transcriptase promoter in parotid tumours and adjacent parotid gland tissue: a pilot study on the implications for recurrence and development of malignancyPublication . Paiva Correia, Antonio; Apolónio, Joana; Nadal, Alfons; Brandão, José Ricardo; Silva, Nádia; Machado, Bianca; Archilla, Ivan; Castelo-Branco, Pedro; Hellquist, HenrikBackground/Objectives: The methylation of the hypermethylated oncological region (THOR) of human telomerase reverse transcriptase (hTERT) may forecast tumour aggressiveness. This pilot study aimed to evaluate THOR methylation as a potential biomarker for recurrence/malignant transformation in salivary gland pleomorphic adenomas (PA). Methods: THOR methylation was assessed by quantitative pyrosequencing in 96 parotid tissue samples (benign and malignant), including non-neoplastic parotid tissue, PA, recurrent PA (rPA), and carcinomas, along with their adjacent tissues. TERT promoter mutations (TPMs) were analysed by Sanger sequencing. Results: THOR methylation significantly differed across the seven groups. Malignant tissues showed higher THOR methylation than non-neoplastic tissues, whereas benign tumours showed no significant difference from non-neoplastic tissue. THOR methylation in rPA was closer to carcinoma than to normal tissue, similar in rPA and tissues adjacent to rPA, and higher in tissues adjacent to carcinomas than in non-neoplastic tissues. A subset of PA-adjacent tissues showed epigenetic alterations, suggesting an increased risk of recurrence or malignant transformation (5–15%). No TPMs were detected. Conclusions: THOR methylation may add information to differentiate normal from carcinogenic tissues and, as such, may be included in a biomarkers panel. Epigenetic alterations in PA-adjacent tissues with normal histology highlight the need for improved diagnostic markers.
- A randomized controlled trial assessing the release of circulating tumor and mesenchymal cells in no-touch radical nephrectomyPublication . Leitão, Tito Palmela; Corredeira, Patrícia; Rodrigues, Carolina; Piairo, Paulina; Miranda, Miguel; Martins Cavaco, Ana Cláudia; Kucharczak, Sandra; Antunes, Marília; Peixoto, Sara; Reis, José Palma dos; Lopes, Tomé; Diéguez, Lorena; Costa, LuísAbstract: Background: Circulating tumor cells (CTCs) may be the missing renal cell carcinoma (RCC) biomarker. No-touch (NT) resection has shown benefit in several tumors. Methods: A randomized controlled trial comparing CTC and circulating mesenchymal cell (CMC) release in no-touch (NT) vs. conventional (C) laparoscopic RN. Blood samples were collected at operation room arrival (S0), specimen extraction (S1), postoperative D1, and D30. CTCs were isolated and analyzed using RUBYchip™. Results: Thirty-four patients were included. No significant differences were found between groups in CTC and CMC counts, count variations between time points, complications, and survival. The total circulating cell detection rates in the NT, C, and overall RCC groups were 58.3%, 80.0%, and 70.4% at S0; 41.6%, 86.7%, and 66.7% at S1; 50.0%, 64.3%, and 60.0% at D1; and 54.5%, 42.9%, and 44.0% at D30, respectively. A progressive decrease in CMCs was observed in the C group after surgery, especially at D1 (4.78 to 1.64 CMCs/7.5 mL blood, p = 0.035). Healthy controls had no circulating cells; however, high CMC counts were found in chronic inflammation controls and oncocytoma patients, with no significant difference from RCC patients (p = 0.460). Conclusions: NT RN did not reduce circulating cell release nor improve survival compared to C RN.
- Selected papers from the XXI SPB national congress of biochemistry 2021Publication . Aureliano, Manuel; Cancela, M. Leonor; Costa, Ana R.; Antunes, Célia M.The XXI SPB National Congress of Biochemistry 2021 was held at the University of Évora in Portugal on 14–16 October 2021. Under challenging conditions, due to the COVID-19 pandemic, we managed to organize the National Congress of Biochemistry in a hybrid format, where at least 2/3 of the participants (130) came to Évora in person. With the pandemic under control, we carried out the Congress both successfully and safely. This was the main meeting point for Portuguese Biochemistry Society (SPB), fostering the discussion and dissemination of high-quality research in biochemistry, both fundamental and applied, taking place in Portugal. The scientific program under the title “Tuning Biochemistry with Life Sciences and Society” covered a broad range of boundaries, ranging from molecular mechanisms of diseases to drug discovery, as well as innovative biochemistry projects. Science and innovation were promoted through dialogue, sharing, and healthy confraternization.
- Transcriptomic profiling of zebrafish mutant for cdkl5 reveals dysregulated gene expression associated with neuronal, muscle, visual and skeletal developmentPublication . Varela, Tatiana da Conceição Domingos ; Domingos Varela, Débora Cristina; Conceição, Natércia; Cancela, M. LeonorZebrafish is a well-recognized model for studying human genetic disorders. Recently, we proposed the homozygous cdkl5sa21938 mutant zebrafish as a model of CDKL5 deficiency disorder (CDD), a developmental epileptic encephalopathy with diverse symptoms. This study aimed to explore Cdkl5-associated molecular mechanisms in zebrafish and assess their similarity to those in mammals. We conducted RNA sequencing on whole cdkl5−/− zebrafish and wild-type siblings at 5- and 35-days post-fertilization (dpf) to compare their gene expression profiles. Most significant differentially expressed genes (DEGs) were related to muscle, neuronal, and visual systems which are affected in CDD. Gene Ontology analysis revealed downregulated DEGs enriched in muscle development, extracellular matrix, and actin cytoskeleton functions at both stages, while upregulated DEGs were enriched in eye development functions at 35 dpf. The Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis revealed enrichment of downregulated DEGs in focal adhesion and extracellular matrix (ECM)-receptor interaction pathways at both stages. Neuronal development DEGs were mainly downregulated at both stages, while synaptic signaling DEGs were upregulated at 35 dpf. Crossing cdkl5−/− mutants with the Hb9:GFP transgenic line showed fewer motor neuron cells with shorter axons compared to the wild type, which may explain the impaired motor phenotype observed in zebrafish and CDD patients. Moreover, we identified key downregulated DEGs related to cartilage development at both stages and bone development at 35 dpf, potentially explaining the skeletal defects seen in zebrafish and CDD individuals. In conclusion, Cdkl5 loss in zebrafish leads to dysregulation of genes involved in CDKL5-associated functions in mammals, providing new insights into its less studied functions and phenotypes.