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) "03:Saúde 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.
- Drug-related glomerular phenotypes: a global pharmacovigilance perspectivePublication . Baptista, Alexandre; Macedo, Ana; Marreiros, Ana; Coelho, André; Perazella, Mark A.Abstract: Introduction: Adverse drug reactions are a significant problem in modern society, stemming from the increase in prescribed medications, over-the-counter drugs, and overall polypharmacy. Glomerular disorders are one of the frequently reported renal conditions associated with medication use. VigiBase is a significant tool for evaluating events associated with drug use, and, to the authors’ knowledge, no study has yet assessed this database to identify the primary medications associated with glomerular disorders. Materials and Methods: We collected data from VigiBase for 54 years and evaluated data based on global frequencies, disproportionality (IC025 values), nephrotoxic potential, and physiopathological mechanisms. Results: Over the evaluation period, 33.932.051 spontaneous notifications of adverse drug reactions reported in VigiBase were assessed, from which 106.775 notifications of drug-associated glomerular disorders were extracted. The isolated medications were classified as ‘potential nephrotoxins’ (47.0%), with 40% of the medications lacking scientific references to report any association with the development of glomerular disorders. Among the evaluated medications, Inotersen (IC025 of 8.3), Penicillamine (IC025 6.8), Bevacizumab (IC025 5.9) and Lenvatinib (IC025 5.4) were identified as having the strongest association with these glomerular disorders. For medications classified as ‘non-nephrotoxic’, a high disproportionality index was observed, suggesting drugs that might be considered as new potential nephrotoxins. Conclusions: Drug-induced glomerular disorders were significantly associated with medications that had no established nephrotoxic role but demonstrated a high disproportionality index in VigiBase. These newly alleged nephrotoxic drugs warrant further evaluation in dedicated studies to assess their true nephrotoxic potential.
- 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.
- Risk factors for non-communicable diseases in refugees, asylum seekers, and subsidiary protection beneficiaries resettled or relocated in Portugal between 2015 and 2020Publication . Pinto de Oliveira, Ana; Conceição, Cláudia; Fronteira, InêsAbstract: Non-communicable diseases, previously thought of as a problem of high-income countries, now coexist in low- and middle-income countries, including the countries of origin for many refugees traveling to Europe. We aimed to describe the prevalence of risk factors for non-communicable diseases among refugees, asylum seekers, and subsidiary protection beneficiaries resettled or relocated in Portugal between 2015 and 2020 and compare these to the prevalence of risk factors in the 12 months before they left their country of origin. A cross-sectional study was conducted between 2019 and 2020 of all refugees, asylum seekers, and subsidiary protection beneficiaries attending a Lisbon, Portugal refugee center. Behavioral and biological risk factors were assessed using the WHO STEPwise modified questionnaire. A descriptive statistical analysis was conducted, which included 80 respondents, mainly men, with an average age of of 30.3 ± 9.8 years. The prevalence of several behavioral risk factors for non-communicable diseases among refugees, asylum seekers, and subsidiary protection beneficiaries was higher at the time of the study than in the 12 months before leaving the country of origin. Differences between men and women were noted in tobacco (49.1% vs. 25.9%) and alcohol use (43.4% vs. 18.5%) in the receiving country. Overweight and obesity also showed differences by gender (7.5% vs. 11.1% and 39.6% vs. 48.1%). The prevalence of suicidal ideation and suicidalplanning was high, and varied from 6.3% and 20% in the country of origin to 16.3% and 38.5% respectively in the receiving country, however the prevalence of suicide attempts was lower in the receiving country (66.7%) compared to the country of origin (100.0%). Information on health and social determinants is critical to identify priorities and increase access to access to gender-specific health and community level interventions, including mental health, to reduce risk factors associated with refugee relocation and resettlement.
- Sarcopenia in women with anorectal dysfunctions—a female sarcopelvic studyPublication . Vieira, Ana Margarida Duarte da Silva; Pais, Sandra; Martins, Viviana; Castelo, Barbara; Saraiva, Miguel MascarenhasAnorectal dysfunctions (ARDs) include fecal incontinence (FI) and functional defecation disorders (FDDs). The pelvic floor muscles play a central role in the physiology of continence and defecation. We aimed to investigate the prevalence of sarcopenia in a female group with anorectal dysfunctions and compare them with a healthy female age-matched group. As secondary objectives, the relationship between anorectal dysfunction outcomes and sarcopenia was analyzed. Methods: We conducted a single-center cross-sectional, interventional, controlled, and double-blind study involving female adults admitted to an ARD outpatient clinic assessed for FI and/or FDD. A control group was also included of age-matched women without ARD. Sarcopenia was evaluated in the entire cohort, according to the latest criteria. Statistical analysis was performed using SPSS software v.29, considering a confidence interval of 95%. Results: A total of 130 participants were included, equally divided by the two groups. The median age was 64 years. Both groups were also similar regarding body mass index (BMI), physical activity index values, and dietary patterns. Among the 130 investigated women, there were no cases of confirmed sarcopenia or severe sarcopenia, but 15 women (11.5%) had probable sarcopenia or dynapenia. The case group had significantly more probable sarcopenia than women in the control group (14 (21.5%) vs. 1 (1.5%), p < 0.001). The presence of relevant comorbidities, such as irritable bowel syndrome (IBS), urinary incontinence (UI), and meat dietary pattern (MDP), was a risk factor for probable sarcopenia. The binomial logistic regression analysis showed that probable sarcopenia (OR 3.9; CI 1.1–14.1, p = 0.039) was associated with a worse treatment response. Conclusions: Probable sarcopenia or dynapenia was significantly more prevalent in women with ARD and was a predictive factor of a worse treatment response, regardless of the ARD severity. Concomitant UI, MDP, IBS, and psychiatric conditions were significantly associated with dynapenia. The inclusion of the evaluation of sarcopenia in these patients should be considered.
- 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.