ULS_10.1-MED-Artigos
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- The muscle cells in pelvic floor dysfunctions: systematic reviewPublication . Vieira, Ana Margarida Duarte da Silva; Faleiro, Maria Leonor; Mascarenhas-Saraiva, Miguel; Pais, Sandraackground/Aims: The pelvic floor muscles are important structures involved in pelvic floor tone, pelvic organ support, and continence. The aim of this study was to perform an update on the pelvic floor muscle structure and function alterations of women with pelvic floor dysfunctions. Methods: A systematic search was undertaken in two electronic databases, PubMed/Medline and Ovid Discovery to find manuscripts (in English), published between 1 January 2002 and 31 July 2022, including all clinical studies using the following search terms: “muscle” or “extracellular matrix *” and “pelvic floor dysfunction *”. All clinical trials, observational, or animal studies examining the muscle and reporting pelvic floor dysfunction as a primary outcome were included. Case reports, literature reviews, conference papers and theses, and unpublished data were excluded. To ensure that no eligible articles were overlooked, the reference lists of all included papers underwent manual scrutiny. The bias level was estimated using Newcastle–Ottawa Scale (NOS) for cohort and case-control studies. A qualitative synthesis was performed. Results: The significant qualitative and quantitative heterogeneity between the studies did not allow for a quantitative analysis. Of the 30 articles selected with a total of 5592 women, 15 referred to the analysis of structural muscle defects, which included 3365 participants with urinary incontinence, pelvic organ prolapse, fecal incontinence, cistocele, rectocele, and sexual dysfunction; 10 manuscripts referred to the study of pelvic floor muscle function with a population of 2042 women, such as urinary incontinence, pelvic organ prolapse, fecal incontinence, and sexual dysfunction; and 5 papers evaluated cellular and/or molecular changes affecting the pelvic floor muscles, like urinary incontinence, pelvic organ prolapse, and rectocele, which included a total of 185 participants. Women with pelvic floor muscle defects are at greater risk of pelvic floor dysfunctions, and inversely, women with pelvic floor dysfunctions have more pelvic floor muscle defects than women without pelvic floor dysfunctions. These patients demonstrate a reduction in muscle tone, contraction strength, and resistance, a compromised neuromuscular activity, and an alteration of the normal composition and organization of the muscle cells. Conclusions: Women with pelvic floor dysfunction have anatomical muscle defects, disturbance of muscle function and cellular changes involving muscle cells and nerve fibers.
- Analysis of TERT association with clinical outcome in meningiomas: a multi-institutional cohort study.Publication . Gui, Chloe; Wang, Justin Z.; Patil, Vikas; Landry, Alexander P.; Castelo-Branco, Pedro; Singh, Olivia; Tabori, Uri; Aldape, Kenneth; Behling, Felix; Barnholtz-Sloan, Jill S.; Horbinski, Craig; Tabatabai, Ghazaleh; Ajisebutu, Andrew; Liu, Jeff; Patel, Zeel; Yakubov, Rebeca; Kaloti, Ramneet; Ellenbogen, Yosef; Wilson, Christopher; Cohen-Gadol, Aaron; Tatagiba, Marcos; Holland, Eric C.; Sloan, Andrew E.; Chotai, Silky; Chambless, Lola B.; Gao, Andrew; Makarenko, Serge; Yip, Stephen; Nassiri, Farshad; Zadeh, GelarehBackground TERT promoter mutation is a rare biomarker in meningiomas associated with aberrant TERT expression and reduced progression-free survival. Although high TERT expression is characteristic of tumours with TERT promoter mutations, it has also been observed in tumours with wildtype TERT promoters. This study aimed to investigate the prevalence and prognostic association of TERT expression in meningiomas.
- Association of acute COVID-19 severity and long COVID fatigue and quality of life: prospective cohort multicenter observational studyPublication . Pires, Ligia; Marreiros, Ana; Saraiva, Cátia; Reis, Cláudia; Neves, Djamila; Guerreiro, Cláudia; Tomé, José Boleo; Luz, Maria Inês; Pereira, Margarida Isabel; Barroso, Ana Sofia; Ferreira, Jorge; Gonzalez, Lucía Méndez; Moniri, Armin; Drummond, Marta; Berger-Estilita, JoanaLong COVID, or post-COVID-19 condition, is characterized by symptoms persisting beyond 12 weeks after severe acute respiratory syndrome coronavirus 2 infection, affecting individuals regardless of acute disease severity. Fatigue – often linked with depression and anxiety – is among its most debilitating manifestations. However, the associations between fatigue subtypes (physical vs mental), mental health symptoms, and acute disease severity on long-term health-related quality of life (HRQoL) remain unclear. This study examines the relationships between long COVID fatigue, depression, anxiety, acute disease severity, and HRQoL in a post-COVID-19 cohort. This prospective observational cohort study was conducted across 5 Portuguese hospitals between November 2020 and June 2022. Adults (≥18 years) with confirmed severe acute respiratory syndrome coronavirus 2 infection ≥6 months prior and fulfilling World Health Organization criteria for long COVID were included. Acute Coronavirus disease 2019 (COVID-19) severity was classified per World Health Organization definitions. The sampling strategy included patients across the severity spectrum. At 3 months postinfection (T1), patients received physician-led clinical assessments. At 6 months (T2), they attended in-person follow-up visits, completing standardized forms and validated questionnaires assessing post-acute sequelae. Fatigue was reported both binarily (yes/no) and via the chalder fatigue scale (11-item version). Anxiety and depression were assessed using the hospital anxiety and depression scale; post-traumatic stress disorder symptoms with the 14-item post-traumatic stress scale; and HRQoL with the EuroQol-5 dimensions. Descriptive statistics, analysis of variance, chi-square, and correlation analyses (Pearson’s or Spearman’s) were used to evaluate associations. Analyses were performed using SPSS (v27; IBM Corp., Amonk). Among 208 patients, fatigue was significantly associated with anxiety and depression (P < .001). Physical fatigue correlated more strongly with depression (r = 0.65, P < .001) and anxiety (r = 0.58, P < .001) than mental fatigue (r = 0.50 and R = 0.48, respectively; P < .001). Surprisingly, severe acute COVID-19 cases reported lower fatigue (CFQ: 13.3 ± 8.4) than mild (17.7 ± 7.2) or moderate (17.4 ± 8.0) cases (P < .005), and higher HRQoL (EuroQol visual analog scale: 74.3 ± 20.3, P = .002). Anxiety symptoms were more common in mild cases (P < .001); post-traumatic stress disorder symptoms did not differ by severity. Long COVID fatigue – especially physical – is strongly linked to depression and anxiety. Mild/moderate acute COVID-19 cases show greater fatigue and lower HRQoL than severe cases, highlighting the need for tailored long-term care regardless of initial severity.
- Molecular detection of multiple antimicrobial resistance genes in helicobacter pylori-positive gastric samples from patients undergoing upper gastrointestinal endoscopy with gastric biopsy in Algarve, PortugalPublication . Nunes, Francisco José Viegas Cortez; Aguieiras, Catarina; Calhindro, Mauro; Louro, Ricardo; Peixe, Bruno; Queirós, Patrícia; Castelo-Branco, Pedro; Mateus, Teresa LetraBackground/Objectives: Helicobacter pylori (H. pylori) is a common gastric pathogen linked to gastritis, gastroduodenal ulcers, and gastric cancer. Rising antimicrobial resistance (AMR) poses challenges for effective treatment and has prompted the WHO to classify H. pylori as a high-priority pathogen. This study aimed to detect the prevalence of AMR genes in H. pylori-positive gastric samples from patients in Algarve, Portugal, where regional data is scarce. Methods: Eighteen H. pylori-positive gastric biopsy samples from patients undergoing upper gastrointestinal endoscopy were analyzed. PCR and sequencing were used to identify genes associated with resistance to amoxicillin (Pbp1A), metronidazole (rdxA, frxA), tetracycline (16S rRNA mutation) and clarithromycin (23S rRNA). Sequence identity and homologies were verified using tBLASTx and the Comprehensive Antibiotic Resistance Database (CARD). Results: Out of the 18 H. pylori-positive samples, 16 (88.9%) contained at least one AMR gene. The most frequent genes were rdxA (83.3%) and frxA (66.7%) for metronidazole resistance, and the 16S rRNA mutation (66.7%) for tetracycline. Resistance to amoxicillin and clarithromycin was detected in 27.8% and 16.7% of cases, respectively. Most samples (72.2%) had multiple resistance genes. A significantly strong association was found between female sex and the presence of the rdxA gene (p = 0.043). Conclusions: The study reveals a high prevalence of H. pylori resistance genes in Algarve, particularly against metronidazole and tetracycline. These findings highlight the need for local surveillance and tailored treatment strategies. Further research with larger populations is warranted to assess regional resistance patterns and improve eradication efforts.
- An integrative review of potential diagnostic biomarkers for complex regional pain syndromePublication . Lopes, Revelino; Santos, André; Gomes, Teresa; Ribeiro, Júlia; Rodrigues, Ivone; Paiva, Bruno; Nzwalo, Isa; Catamo Vaz, Deise Haua da Silva; Baco, Jamal; Buque, Helena Agostinho; Botelho, Marta; Pais, Sandra; Nzwalo, HipólitoBackground: Complex regional pain syndrome (CRPS) is a rare, chronic, painful, neurological, debilitating disorder. Despite the substantial impact on quality of life, diagnosis remains challenging due to its complex pathophysiology and subjective clinical criteria. This integrative review aims to synthesize current research on potential diagnostic biomarkers for CRPS. Methods: A systematic search was conducted using the PubMed and Scopus databases to identify relevant studies published until January 2025. Inclusion criteria focused on adult CRPS patients, with studies examining diagnostic or predictive biomarkers. Results: Key findings highlight the role of inflammatory and immune-related biomarkers, such as elevated levels of cytokines (IL-6, TNF-alpha), immune cell infiltration, and specific autoantibodies. Neuropeptides, including substance P and calcitonin gene-related peptide, were associated with pain sensitization in acute phases, though their levels normalized in chronic stages. Additionally, genetic and epigenetic markers, brain imaging, and neurophysiological alterations provided insights into CRPS pathogenesis, emphasizing the dynamic nature of these biomarkers across disease stages. Conclusions: This review underscores the need for further research to integrate these biomarkers into diagnostic frameworks, which could enhance early diagnosis and treatment strategies for CRPS.
- Old habits die hard: Can AI help bring coronary angiography Into the 21st Century?Publication . Menezes, Miguel Nobre; Oliveira, Catarina Simões; Silva, João Lourenço; Silva, Beatriz Valente; Marques, João Silva; Guerreiro, Cláudio; Guedes, João Pedro; Oliveira-Santos, Manuel; Oliveira, Arlindo L.; Pinto, Fausto J.Coronary angiography (CAG) was pioneered in the 1950s by Eduardo Coelho (who performed the first nonselective in vivo CAG in 1952 at the Santa Marta Hospital in Lisbon, Portugal) and Frank Mason Sones Jr (who performed the first selective CAG in vivo in 1958 at the Cleveland Clinic in Ohio, USA). Sones further developed the technique by contributing to the development of the C-arm, enabling multiangular views and a comprehensive assessment of coronary artery anatomy and disease. This approach remains essentially the same today. When interpreting CAG images, an essential step is the assessment of the severity/significance of coronary lesions, paramount for considering revascularization. Furthermore, the presence of significant lesions increases the risk of cardiovascular events and symptoms, rendering optimal medical therapy mandatory for addressing both.
- Impact of elexacaftor/tezacaftor/ivacaftor on the small airways in cystic fibrosisPublication . Silva, Sofia Campos; Barroso, Andreia; Cunha, Maria; Fragoso, Elsa; Azevedo, PilarObjective: To evaluate the impact of the elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) combination on the small airways in adults with cystic fibrosis (CF), a genetic disorder that primarily affects the respiratory system, leading to progressive lung disease. In CF, the small airways play a critical role, contributing to chronic symptoms such as cough, sputum production, and dyspnea. Methods: This was a single-center, retrospective observational study of adults with CF treated with ELX/TEZ/IVA for 12 months. We compared the patients who were homozygous for the F508del mutation of the CF transmembrane conductance regulator (CFTR) gene with those who were heterozygous for that mutation, in terms of lung function outcomes (FEV1, FEF25-75%, and the RV/TLC ratio) and the extent of non-homogeneous ground-glass opacity. Among the patients within the cohort, the same parameters were evaluated separately in those who had advanced lung disease and in those who had previously undergone CFTR modulator therapy. Results: There was a significant post-treatment improvement in lung function, with a median increase of 0.42 L/s in the FEF25-75% (p < 0.001) and a 5% reduction in the mean RV/TLC ratio (p < 0.001). There was a trend toward a higher improvement the F508del homozygous patients. A significant reduction in non-homogeneous ground-glass opacity was observed in 79.5% of the patients. Among the patients with advanced lung disease, there were notable post-treatment improvements in all of the parameters assessed. Conclusions: Our results highlight the positive impact that ELX/TEZ/IVA treatment can have on small airway function in patients with CF, with potential benefits even for those with advanced lung disease. Further research is needed in order to evaluate the long-term effects of this treatment and its relationship with patient-reported outcomes.
- Pregnancy outcomes in systemic sclerosis: experience of a rheumatology-obstetric multidisciplinary clinicPublication . Chícharo, Ana Teodósio; Lopes, Ana Rita; Barreira, Sofia; Martins, Patrícia; Machado, Ana Rita Cruz; Pinto, Luísa; Capela, SusanaSystemic sclerosis (SSc) is a rare multisystemic connective tissue disease (CTD). It is mainly characterized by progressive fibrosis and non-inflammatory vasculopathy. Women diagnosed with SSc seem to be at increased risk of developing adverse pregnancy outcomes (APO), but maternal and perinatal outcomes remain poorly understood in these patients, with no data yet available from Portuguese centers.
- Biologic disease-modifying antirheumatic drugs survival in late-onset axial spondyloarthritis — data from a Portuguese registryPublication . Silva, Susana P.; Monteiro, Beatriz; Oliveira, Cláudia Pinto; Costa, Roberto Pereira da; Matos, Carolina Ochôa; Lopes, Mariana Diz; Gomes, Carlos Marques; Bernardes, Miguel; Santos, Mariana Emília; Gago, Laura; Abreu, Catarina; Fraga, Vanessa; Mendes, Beatriz; Rocha, Margarida Lucas; Soares, Catarina Dantas; Silva, Cândida; Santos, Helena; Valente, Paula; Silva, Lígia; Eugénio, Gisela; Barcelos, AnabelaObjectives Although axial spondyloarthritis (axSpA) typically begins before age 45, late-onset axSpA (lo-axSpA) has been widely recognized. While existing literature describes this subgroup, data on therapeutic approaches remain limited. Therefore, we aimed to evaluate the efficacy and safety of biologic DMARDs in patients with lo-axSpA.Methods We conducted a retrospective, multicentre, national cohort study using data from the Rheumatic Diseases Portuguese Register. A cut-off age of 45 years was applied to define lo-axSpA. Group differences between early- and late-onset disease activity scores were evaluated, and drug survival was assessed over 12 months. Predictors of drug discontinuation were identified using a Cox proportional hazards model.Results In total, 2256 patients were included, of whom 260 (11.5%) had lo-axSpA. Patients with late-onset disease exhibited significantly higher scores in the Ankylosing Spondylitis Disease Activity Score, Bath Ankylosing Spondylitis Disease Activity Index and Bath Ankylosing Spondylitis Functional Index at baseline, 3, 6 and 12 months. Despite these differences, both groups showed proportional reductions in disease activity scores, indicating a continuous decrease in disease activity over time. Although the late-onset group had a higher discontinuation rate during the first 12 months of treatment, lo-axSpA was not associated with an increased risk of therapy discontinuation. The primary reason for treatment discontinuation in both groups was inefficacy, with low rates of infections and other adverse events observed across the cohort.Conclusion Our study demonstrated that lo-axSpA is not associated with reduced treatment efficacy or compromised safety.
- Delphi consensus statement for the management of delayed post-polypectomy bleedingPublication . Rodríguez de Santiago, Enrique; de la Iglesia, Sandra Pérez; de Frutos, Diego; Marín-Gabriel, José Carlos; Mangas-SanJuan, Carolina; Honrubia López, Raúl; Uchima, Hugo; Aicart-Ramos, Marta; Rodríguez Gandía, Miguel Ángel; Valdivielso Cortázar, Eduardo; Zabala, Felipe Ramos; Álvarez, Marco Antonio; Solano Sánchez, Marina; González Santiago, Jesús Manuel; Albéniz, Eduardo; Hijos-Mallada, Gonzalo; Quismondo, Nerea Castro; Fraile-López, Miguel; Martínez Ares, David; Tejedor-Tejada, Javier; Hernández, Luis; Gornals, Joan B.; Quintana-Carbo, Sergi; Ocaña, Juan; Neves, João A. Cunha; Martínez Martínez, Juan; Pinilla, María López-Cerón; Abadía, Carlos Dolz; Pellisé, MaríaBackground: Delayed post-polypectomy bleeding (DPPB) is the most common adverse event following colonic polypectomy, yet its management remains highly heterogeneous and lacks standardization. A considerable number of colonoscopies performed for DPPB may be unnecessary and do not result in hemostatic intervention.Objectives: To develop evidence-based statements to guide clinical decision-making in DPPB.Design: Multidisciplinary Delphi consensus statement.Methods: A panel of 29 experts in gastroenterology, hematology, radiology, and surgery was assembled. Through a systematic review of the literature and a modified Delphi process, consensus statements were developed through iterative rounds of anonymous voting. Statements were revised following anonymous voting and feedback at each round. Those achieving 80% agreement were accepted.Results: The expert panel reached a consensus on 36 statements, covering areas such as antithrombotic management, bowel preparation, colonoscopy indications, and therapeutic hemostatic modalities. Key recommendations include guidance for managing self-limited bleeding and risk stratification to reduce the rate of unnecessary colonoscopies, as well as recommendations for hemodynamically unstable patients who may require primary angioembolization. A practical clinical algorithm is proposed.Conclusion: This document provides a consensus-based framework for managing DPPB. These recommendations aim to improve patient outcomes and optimize healthcare resources while fostering a standardized approach to this common adverse event.