FCB2-Artigos (em revistas ou actas indexadas)
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- Tert expression in meningiomas predicts progression-free survival independent of tert promoter mutationPublication . Gui, Chloe; Wang, Justin; Patil, Vikas; Landry, Alexander; Castelo-Branco, Pedro; Singh, Olivia; Tabori, Uri; Aldape, Kenneth; Behling, Felix; Barnholtz-Sloan, Jill; Horbinski, Craig; Tabatabai, Ghazaleh; Ajisebutu, Andrew; Liu, Jeff; Patel, Zeel; Yakubov, Rebeca; Kaloti, Ramneet; Ellenbogen, Yosef; Wilson, Christopher; Cohen-Gadol, Aaron; Tatagiba, Marcos; Sloan, Andrew; Holland, Eric; Chambless, Lola; Gao, Andrew; Chotai, Silky; Makarenko, Serge; Yip, Stephen; Nassiri, Farshad; Zadeh, GelarehWhile TERT promoter mutation (TPM) has been es¬tablished as a marker of clinically aggressive meningiomas, this alteration is rare and found in less than 5% of all cases. However, a larger subset of meningiomas may exhibit aberrant TERT expression in the absence of TPMs. This study investigated the effect of TERT gene expression on clinical outcome in meningioma patients. METHODS: Clinical and mo¬lecular data were retrospectively collected on 1241 meningiomas, split into a Toronto discovery cohort and a multi-institutional validation co¬hort. Sanger sequencing and bulk RNA sequencing were used to determine TPM status and TERT gene expression. The effect of TERT expression on progression-free survival (PFS) was assessed using Kaplan-Meier and Cox regression analysis. RESULTS: While meningiomas with TPM showed expectedly higher TERT gene expression compared to wildtype (TP-WT) cases (p<0.0001), TERT expression was still detected in 28.7% (157/547) of TP-WT meningiomas. Meningiomas with TERT expression showed sig¬nificantly worse PFS compared to meningiomas without any TERT expres¬sion. In fact, WHO grade 1 meningiomas with TERT expression had PFS outcomes resembling WHO grade 2 meningiomas lacking TERT expression (p=0.59). In turn, WHO grade 2 meningiomas with TERT expression had clinical outcomes similar to WHO grade 3 meningiomas without TERT ex¬pression (p=0.42). Furthermore, the proportion of meningiomas expressing TERT as well as overall TERT expression levels increased with increasing WHO grade. Multivariable analysis showed that TERT expression was sig-nificantly associated with worse PFS even when controlling for other known predictors of clinical outcome including TPM, CDKN2A/B loss, 1p/22q status and WHO grade (HR 1.85 [95% CI 1.33-2.57], p=0.00024). CON¬CLUSION: TERT expression is a novel independent biomarker of outcome for meningiomas identifiable in up to one-third of cases that may be utilized to reclassify tumors to a higher WHO grade.
- Reinfection incidence following surgical intervention for infected aortic bypass: a meta-analysisPublication . Brazuna, Márcio; Costa, Marta Gonçalves; Marreiros, Ana; Andrade, Leonardo Araújo; Andrade, José Paulo; Neves, João RochaBackground Infection of vascular grafts after aortic revascularization surgery is a serious complication with high morbid ity and mortality. This systematic review and meta-analysis aims to determine reinfection incidence in patients undergoing surgical intervention for infected aortic bypass grafts and identify key risk factors in the literature. Materials and Methods This systematic review and meta-analysis followed PRISMA guidelines. Three electronic databases, PubMed/MEDLINE, Scopus, and Web of Science were used to search studies published after January 1, 2000, that assessed reinfection rates following surgical intervention for infected aortic bypass grafts. Random-effects meta-analysis was per formed to calculate pooled incidence of major outcomes.Results: Our systematic review included 30 studies with a total of 2,341 patients. Overall reinfection rate was 12.7% (95% CI: 8.6%–16.9%). In terms of morbidity 34.1% had acute kidney injury, 23.8% needed amputation, and 29.4% developed acute limb ischemia. The 30-day mortality rate was 27.8% (95% CI: 13.2%–42.4%).The medical approach to treatment varied significantly, however, the majority involved total removal of the infected prosthesis. The main microorganisms isolated in primary infections were mostly Staphylococcus and Enterococ cus species, with a notable representation of gram-negative bacteria.Conclusion: Reinfection rates after surgical treatment of infected aortic bypass grafts were relatively high and constitute a challenge of high clinical impact. This is further demon strated by the high 30-day mortality rate. The significant variation in treatment approaches observed above also highlights the lack of formalized management protocols. Further studies are needed to determine the best surgical approach and patientrelated risk factors to optimize outcomes in this difficult population.
- Polypharmacy and the Use of Potentially Inappropriate Medications in Elderly People in Nursing Homes: A Cross-Sectional StudyPublication . Fest, Giulia; Costa, Lara; Pinto, Ezequiel; Leitao, Helena; Nascimento, TâniaPolypharmacy and the use of potentially inappropriate medications (PIM) are prevalent issues among institutionalized older adults, contributing to adverse drug events and decreased quality of life. This study aimed to describe the sociodemographic and clinical characteristics associated with polypharmacy and the use of PIM in elderly people in nursing homes. A cross-sectional descriptive study was conducted among 151 residents aged ≥ 65 years. Data was extracted from institutional records. The mean age of participants was 86.48 ± 8.00 years; 71.5% were female. Excessive polypharmacy was observed in 49.7% of residents. The mean number of medications was 9.66 ± 4.18, with nervous system drugs being the most prescribed (3.73 ± 2.31). PDDIs were detected in 94% of the sample and PIMs were present in 82.8% of residents. The most common PIMs were proton pump inhibitors (ATC A) and anxiolytics (ATC N). Binary logistic regression identified two independent predictors for PIMs: the total number of medications (AOR = 1.259) and the use of ATC A (Alimentary tract and metabolism) medications (AOR = 2.315). Conversely, age and sex were not significant predictors. The study reveals a critical prevalence of excessive polypharmacy, PIM use, and PDDIs among institutionalized elderly in the Algarve. These findings underscore the urgent need for systematic, multidisciplinary medication reviews in Portuguese nursing homes to promote safer and more rational prescribing practices.
- CRISPR-based functional genomics in pluripotent stem cellsPublication . Zahedi, SetarehThe integration of CRISPR-based functional genomics with pluripotent stem cell (PSC) technologies has been recognized as a transformative approach for investigating gene function, modeling human disease, and advancing regenerative medicine. The aim of this review is to provide a comprehensive evaluation of recent developments in CRISPR-Cas platforms, including gene knockouts, base and prime editing, and CRISPR activation or interference (CRISPRa/i), as applied to PSC systems. Studies employing human PSCs, including embryonic stem cells and induced pluripotent stem cells, have been examined to summarize methodologies for genome-wide screening, lineage tracing, and therapeutic engineering. Advances in editing efficiency, delivery strategies, and genomic safety have been reported, while limitations persist in the form of off-target modifications, epigenetic variability, and cell-type-specific responses. Notable applications include the generation of immune-evasive PSC lines, the development of organoid models for physiological and pathological studies, and the implementation of phenotypic screening for disease-relevant traits. Collectively, these technological and methodological advancements have established functional genomics of PSC-CRISPRSPR as a versatile and powerful framework for elucidating fundamental aspects of human biology, dissecting complex traits, and accelerating the translation of discoveries from experimental research to clinical implementation.
- Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxiasPublication . Nóbrega, Clévio; Marcelo, Adriana; Vieira da Conceição, André Filipe; Encarnação Estevam, Bernardo Alexandre; Rajado, Ana Teresa; Albuquerque Andrade de Matos, Carlos Adriano; Vilhena Catarino Brito, David; Torquato Afonso, Inês; Antunes Codêsso, José Miguel; Koppenol, Rebekah; Costa, Rafael Gomes da; Afonso Reis, Ricardo António; Paulino, Rodrigo; Gomes, TiagoPolyglutamine spinocerebellar ataxias (PolyQ SCAs) comprise a group of six inherited rare neurodegenerative diseases. They are caused by abnormal mutation of a CAG tract in six otherwise unrelated genes, leading to a complex cascade of molecular events that culminate in neuronal death. Based on decades of research in these diseases, this review identifies and categorizes the distinctive hallmarks involved in the molecular pathogenesis of PolyQ SCAs. We organized these molecular signatures into three groups: (i) primary hallmarks, which directly refer to the transcription and translation of the abnormally expanded gene and protein, respectively; (ii) secondary hallmarks, which include alterations in pathways and organelles that are implicated in the disease pathogenesis; and iii) end-stage hallmarks, which highlight the final events of the pathogenesis cascade in PolyQ SCAs. This framework is expected to provide a platform for understanding the complex network of molecular mechanisms involved in these diseases and to guide current and future efforts in developing therapies.
- Equilíbrio e risco de queda na pessoa idosa na comunidade – desenho colaborativo e validação de um jogo analógico na abordagem em fisioterapiaPublication . Tome, Ana Maria; Rosa, Marlene; Pais, Sandra; Tomás, Teresa; de Almeida Fontes, Ana PaulaO envelhecimento associa-se a declínio multissistémico das funções físicas, psicológicas, cognitivas e mentais, com destaque para a multimorbilidade, fragilidade, perda de equilíbrio e aumento do risco de queda. O exercício físico mostra evidência na prevenção desse declínio, mas nem todas as pessoas idosas se adaptam. O jogo sério, evidencia-se nos últimos anos como uma intervenção multifatorial potencialmente eficaz nesse declínio. Pretende-se, codesenvolver e explorar o efeito de uma intervenção multifatorial com mecânicas e elementos de jogo analógico, na performance relacionada com o equilíbrio e risco de queda, na pessoa, com 65 ou mais anos de idade na comunidade. Trata-se do segundo estudo - exploratório de codesign de jogo analógico com grupo focal - de um conjunto de quatro, incluídos num projeto de investigação, envolvendo indivíduos idosos da comunidade, inscritos em Universidades Sénior da Região do Algarve. Espera-se um contributo para a evidência científica (participada), de uma estratégia de intervenção para o equilíbrio e risco de queda, baseada no jogo. Conhecer as características da população alvo permitirá planificar adequadamente intervenções e estudos subsequentes. A utilização de uma metodologia com grupo focal possibilita obter informação qualitativa com envolvimento direto dos diferentes interessados. A cocriação, representa um valor acrescentado para a investigação e sucesso de utilização do jogo, permitindo capacitar e potenciar o envolvimento dos utilizadores. O estudo piloto, coadjuvará o desenho do estudo de intervenção, com o qual se espera contribuir para evidenciar um novo protocolo de intervenção com recurso ao jogo analógico, que será testado no estudo experimental.
- + Equilíbrio 65 - risco de queda em idosos na comunidade da região do algarvePublication . Tome, Ana Maria; Rosa, Marlene Cristina Neves; Pais, Sandra Cristina Cozinheiro Fidalgo Rafael Gamboa; Tomás, Maria Teresa Barreiros Caetano; de Almeida Fontes, Ana PaulaIntrodução - As quedas constituem uma das principais causas de morbilidade na população sénior. A identificação e caracterização dos fatores causais é basilar na intervenção. Objetivo - Caracterizar a população de indivíduos com 65 anos ou mais de idade, da comunidade, inscritos em universidades sénior, do ponto de vista sociodemográfico e dos fatores de risco e risco de queda. Metodologia –Estudo transversal observacional. Incluídos indivíduos com 65 ou mais anos de idade. Dados recolhidos por questionário de autopreenchimento e avaliação de risco de queda e capacidade funcional e cognitiva com instrumentos específicos: FES-I TUG-C, FRT e FAB. Resultados – Avaliados 128 participantes dos 65-92 anos de idade (74.95±6.13), 74.2% mulheres. 31,3% tem história de queda no último ano; 75% toma mais de um medicamento por dia; 97,7% refere comorbilidades crónicas; 14.8% e 13.3% apresentam TUG-C e FRT, respetivamente, compatíveis com risco muito elevado de queda. 74,2% tem medo de cair moderado ou elevado e 49,2% tem disfunção marcada das funções executivas Discussão – A elevada percentagem de fatores de risco, a prevalência de quedas anteriores, polimedicação, comorbilidades crónicas e baixo nível de atividade física, risco psicossocial e baixos níveis de escolaridade são sinais de risco. O elevado medo de cair, desempenho reduzido nos testes de equilíbrio estático e dinâmico e o declínio cognitivo evidenciam a importância de uma avaliação multidimensional do risco de queda. Conclusão – Este estudo permitiu um olhar mais consistente sobre a problemática do equilíbrio e risco de queda e possibilitou sinalizar e analisar os principais fatores de risco de queda, em idosos na comunidade numa região do Algarve.
- Physiotherapy management following surgical neurolysis for a peroneal nerve injury: A case reportPublication . Almeida, Pedro Sérgio Costa da Silva; Tome, Ana Maria; Felicio, João Carlos Martins; de Almeida Fontes, Ana PaulaThe peroneal nerve becomes superficial near the head of the fibula, increasing its exposure to injury mechanisms. There is a need to improve knowledge on the influence of physiotherapy on peripheral nerve injury rehabilitation. The case involves a woman with 47 years who suffered a cut in the region of distal third of right common peroneal nerve. This injury resulted in the loss of sensitivity, strength, foot drop, and neuropathic pain after suturing. These symptoms persisted for six weeks, and she had to undergo surgery six weeks after the accident. Physiotherapy was initiated 1 month after the surgical intervention, incorporating manual therapy, electrical stimulation, functional and aerobic exercise, and patient education. The patient experienced sensory alterations, pain was eliminated, and functional recovery of gait and running was achieved. However, there were residual weaknesses in hallux extensor and dorsiflexors. This case study contributes to the development of peroneal nerve rehabilitation interventions.
- Immunomodulatory inhibition of osteoclastogenesis by a marine microalgal ethanol fraction targeting T-cells, antigen presentation, and macrophage fatePublication . Carletti, Alessio; Pes, Katia; Tarasco, Marco; Rosa, Joana; Poudel, Sunil; Pereira, Hugo; Louro, Bruno; Cancela, M. Leonor; Laizé, Vincent; Gavaia, PauloBackground: Targeting immune pathways to prevent bone loss represents a promising, yet underexplored therapeutic strategy. Methods: An ethanol-soluble fraction derived from the freeze-dried biomass of the marine microalga Skeletonema costatum (SKLT) was tested for its ability to modulate immune responses and inhibit osteoclastogenesis. Its effects were evaluated in a zebrafish model of bone regeneration, a medaka model of RANKLinduced osteoporosis, and in vitro using murine RAW 264.7 macrophages. Transcriptomic profiling of regenerating fin blastemas at 24 hours postamputation was performed to identify the affected molecular pathways. Results: In zebrafish, SKLT treatment suppressed the recruitment of osteoclast precursors and altered mineralization dynamics. Transcriptomic profiling revealed downregulation of genes involved in inflammation, antigen presentation, T-cell activation, and macrophage commitment towards osteoclastogenesis, accompanied by reduced expression of chemokines and cytokines that promote osteoclast precursor recruitment and fusion. In medaka, SKLT significantly reduced vertebral bone loss and enhanced neural arch mineralization in larvae with high RANKL expression. In vitro, SKLT inhibited proliferation and osteoclastic differentiation of murine RAW 264.7 macrophages exposed to RANKL without inducing cytotoxicity. Conclusion: These findings identify S. costatum as a source of bioactive immunomodulatory compounds capable of interfering with key osteoimmune mechanisms. Beyond providing proof of concept for their therapeutic potential in bone erosive disorders, this work opens avenues for isolating and characterizing the active molecules, optimizing their delivery, and evaluating their efficacy in preclinical mammalian models. Such strategies could expand the repertoire of safe, nutraceutical-based or adjuvant therapies for osteoporosis and other inflammation-driven skeletal diseases, complementing and potentially enhancing current antiresorptive and anabolic treatments.
- The vertebral column of flatfish: a reviewPublication . Azevedo, A. M. de; Losada, A. P.; Vázquez, S.; Witten, P. E.; Quiroga, M. I.; Gavaia, PauloFlatfish (Pleuronectiformes) encompass fascinating fish species known for their high gastronomical value, rearing performances, and market prices, which attract both economic and scientific interest. Despite these attributes, flatfish exhibit unique morphological, developmental, and biological features, as well as distinctive swimming movements, which require special approaches in skeletal biology research, an area that remains relatively unexplored for this diverse group of fishes. These unique features emerge during metamorphosis, at the end of the larval period, when bilateral symmetric pelagic larvae gradually become asymmetric and undergo various morphological and physiological changes. Consequently, the skeletal characteristics of these species include a certain degree of asymmetry in the skeletal structures. These fish also present acellular bone (bone devoid of osteocytes). Research on flatfish skeletons is crucial for improving animal welfare and promoting sustainable farming, as the literature indicates that more than 50% of the larvae and juveniles of different cultured flatfish can be affected by skeletal deformities. This review aims to compile the available studies on the development of vertebral column deformities in flatfish in an integrative manner, addressing state-of-the-art research on the etiology, diagnostics, and innovative studies on this issue. It also covers the fundamental aspects of teleost skeletal development, particularly the flatfish vertebral column.