Percorrer por autor "Ribeiro, Inês"
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- Assessing the utility of the REVEL Score: A comprehensive evaluation across diverse genomic and clinical contextsPublication . Ribeiro, Inês; Abreu, Maria; Leão, Marta; Abreu, Miguel; Faria, Brigida Monica; Faria, Brigida MonicaInterpreting germline variant pathogenicity is challenging, even with increased access to genomic data and in silico prediction tools. The REVEL score, an ensemble method combining 13 prediction tools, has become a key resource for classifying missense variants. This study evaluates REVEL's accuracy using gnomAD data, focusing on three aspects: its agreement with ClinVar classifications, its reliability with variants of moderate-to-high prevalence in gnomAD 4.0 (which are generally benign), and its effectiveness across gene pathogenicity mechanisms, such as gain of function and loss of function. This analysis will determine REVEL's utility in diverse clinical settings. It was optimized data processing by selecting 20 genes from the OMIM-morbid database, representing a variety of disorders and disease mechanisms. To test the accuracy of REVEL, it was selected genes with varying features, focusing on pathogenicity mechanisms (such as gain of function, loss of function, or dominant negative), inheritance patterns (autosomal dominant, autosomal recessive, or X-linked), and disorder frequencies. This approach allowed us to evaluate REVEL's performance across diverse gene characteristics and clinical scenarios.It was mapped each gene's REVEL score to its gnomAD frequency, ClinVar classification, and canonical transcript position, and accuracy was tested using Python and Biopython. Our preliminary analysis showed that the REVEL score performed well for variants with medium-to-high prevalence in gnomAD. REVEL scores were generally consistent with ClinVar classifications, with high accuracy across most gene type, but some care should be taken upon analysing Clinvar classification, as some may have used REVEL or some of its components during interpretation. The tool was effective regardless of pathogenicity mechanisms, inheritance patterns, or disorder frequencies, suggesting broad utility in genomic analysis.
- Avaliação de impacto na saúde resultante do aumento do turismo na cidade do PortoPublication . Ribeiro, Inês; Miraglia, Simone Georges El Khouri; Vieira, Mariana; Abe, Karina CamasmieDados fornecidos pelo Instituto Nacional de Estatística (INE) (2022), revelam que no ano de 2021 chegaram a Portugal mais de 9,6 milhões de turistas, correspondendo assim a um acréscimo de 48,4% relativamente ao ano anterior. Com o aumento do turismo veio uma maior abundância no que diz respeito à utilização de transportes privados terrestres como uso preferencial entre os turistas. Um dos exemplos é o uso da rede automóvel Uber, uma vez que a cidade do Porto está presente no ranking onde são mais pronunciados os pedidos de viagens de estrangeiros, sendo que em 2021 se encontrava no 12º lugar.
- Biodegradation of mono-, di- and trifluoroacetate by microbial cultures with different originsPublication . Alexandrino, Diogo A.M.; Ribeiro, Inês; Pinto, Luís M.; Cambra, Rafael; Oliveira, Rui S.; Pereira, Filipe; Carvalho, Maria F.This work focused on the biodegradation of three structurally related fluoroacetates (FAs), mono- (MFA), di- (DFA) and trifluoroacetate (TFA), using as microbial inocula samples collected from a site with a long history of industrial contamination and activated sludge obtained from a municipal wastewater treatment plant. Biodegradation experiments were carried out under different modes of substrate supplementation, which included (i) FAs fed as sole carbon sources; (ii) FAs (only for DFA and TFA) fed in co-metabolism with sodium acetate; and (iii) mixtures of MFA with DFA or TFA. Biodegradation of the target compounds was assessed through fluoride ion release. Defluorination was obtained in the cultures fed with MFA, while DFA and TFA were recalcitrant in all tested conditions. When present in mixture, DFA was shown to inhibit biodegradation of MFA, while TFA had no effect. A total of 13 bacterial isolates obtained from MFA degrading cultures were found to degrade 20mgL-1 of this compound, as single strains, when supplemented as a sole carbon source. Sequencing of the 16S rRNA gene indicated that among these degrading bacteria only Delftia acidovorans had been previously reported to be able to degrade MFA. This work shows that, despite their similar chemical structures, biodegradation of the three tested FAs is very distinct and draws attention to the unknown impacts that the accumulation of DFA and TFA may have in the environment as a result of their high recalcitrance.
- Effectiveness of an intervention program for informal carers of children admitted to a rehabilitation centrePublication . Morais, Sónia; Pimenta, Rui Esteves; Morais, Carminda; Macedo, Rui; Ribeiro, Inês; Ferreira, Pedro Lopes; Pimenta, Rui; Macedo, RuiHealth literacy improves informal caregivers’ knowledge and ability to provide care. The aim of this study is to analyze the impact of a group-based intervention on the health literacy of informal caregivers of children with special health needs (SHNs). The intervention focuses on movement, hydrotherapy, walking, and relaxation, with three evaluation stages. Participants included 34 informal caregivers of children with SHNs, recruited at a Physical Medicine and Rehabilitation Service. We collected sociodemographic data of the participants and measured their health literacy through the short-form version of the European Health Literacy Survey Questionnaire (HLS-EU-Q16). Around 70% of the participants were female, with a mean age of 41.06 ± 4.98 years, and nearly 85% were married or in a de facto union. About 26% were unemployed, and more than 65% had completed secondary education or higher. The mean scores of the HLS-EU-Q16 were statistically significantly higher throughout the intervention, with differences over the evaluation stages [F(2,56) = 75.55; p < 0.05]. A structured, dynamic, and group-based intervention plan showed improvements in the health literacy of the participants, with an increase in the percentage of participants with sufficient and excellent levels of health literacy at the end of the intervention.
- Empowerment and knowledge as determinants for quality of life: a contribution to a better type 2 diabetes self-managementPublication . Ferreira, Pedro L.; Morais, Carminda; Pimenta, Rui; Ribeiro, Inês; Amorim, Isabel; Alves, Sandra MariaThe purpose of this study was to assess how knowledge and empowerment impact the quality of life (QoL) of a person with type 2 diabetes, leading to better communication and disease management. We conducted a descriptive and observational study of individuals with type 2 diabetes. The Diabetes Empowerment Scale-Short Form (DES-SF), Diabetes Knowledge Test (DKT), and EQ-5D-5L were used, in addition to sociodemographic and clinical characteristics. Evaluating the variability in the DES-SF and DKT in relation to the EQ-5D-5L and identifying possible sociodemographic and clinical determinants were conducted using univariate analyses followed by a multiple linear regression model to test whether the factors significantly predicted QoL. A total of 763 individuals were included in the final sample. Patients aged 65 years or older had lower QoL scores, as well as patients who lived alone, had less than 12 years of education, and experienced complications. The insulin-treated group showed higher scores in DKT than the non-insulin-treated group. It was also found that being male, being under 65 years of age, having no complications present, and having higher levels of knowledge and empowerment predicted higher QoL. Our results show that DKT and DES are still determinants of QoL, even after adjusting for sociodemographic and clinical characteristics. Therefore, literacy and empowerment are important for the improvement of the QoL of people with diabetes, by enabling them to manage their health conditions. New clinical practices focused on education, increasing patients’ knowledge, and empowerment may contribute to better health outcomes.
- Exploring actinobacterial diversity in Ruta graveolens: Phylogenetic identification and bioactive potential investigationPublication . Ferreira, Sílvia; Ribeiro, Inês; Oliveira, Rui S.; Carvalho, M. FátimaMedicinal plants and their components have been utilized in traditional medicine for centuries and have significantly influenced the development of modern medicine. Ruta graveolens, a Rutaceae medical plant, is known for its antibacterial, anti-inflammatory and cytotoxic properties. Actinobacteria are a rich source of compounds exhibiting diverse biological activities and potential therapeutic applications. The aim of this study was to perform the phylogenetic identification of a collection of actinobacterial strains previously isolated from R. graveolens and to investigate their bioactive potential. Actinobacterial strains previously isolated from stem, roots and leaves of R. graveolens were grown in Actinomycete Isolation Agar (AIA) or Starch-Casein-Nitrate-Agar (SCN). DNA from grown cultures was extracted and phylogenetically identified through 16S rRNA gene sequencing. For each strain, organic extracts were performed and used for the screening of antimicrobial activity, using the disk diffusion test, against four reference bacteria (Staphylococcus aureus, Bacillus subtilis, Salmonella typhimurium, Escherichia coli) and one yeast (Candida albicans). Thirty-two actinobacterial isolates were so far identified. Most of the strains was identified as Tsukamurella tyrosinosolvens, constituting 13 out of 32 isolates, followed by 8 Streptomyces sp., 7 Brevibacterium sediminis, 3 Microbacterium ginsengiterrae, and one Gordonia hydrophobica. The organic extracts obtained from each isolate were tested for their antimicrobial activity. Up to moment, no significant bioactivity was detected in the reference strains screened in this study. A collection of 32 actinobacterial strains was obtained from various parts of the medicinal plant R. graveolens. Though no relevant antimicrobial activity was yet found, extracts of these actinobacteria open new opportunities to explore their bioactive potentials with therapeutic applications.
- Exploring the biosurfactant potential of Actinobacteria isolated from Ruta graveolensPublication . Ferreira, Sílvia; Ribeiro, Inês; Oliveira, Rui S.; Carvalho, Maria de FátimaBiosurfactants are surface-active compounds known for their emulsifying properties and numerous advantages, including low environmental toxicity, eco-friendliness, biodegradability and acceptability. These molecules are amphiphilic, containing both hydrophilic and hydrophobic ends, allowing them to interact at the aqueous-non-aqueous interface. Bacterial biosurfactants are interesting due to their various fields of applications, including biomedicine, cosmetics, food, pharmaceutics, water treatment and oil recovery. Actinobacteria are an important group of microorganisms with high potential for producing different bioactive metabolites including antimicrobial, anticancer and other pharmaceutical compounds. Medicinal plants,such as Ruta graveolens, are a rich source of bioactive compounds, and the association of actinobacteria endophytes with such plants are an attractive source for bioprospecting for novel compounds with biomedical and industrial applications. The purpose of this study was to explore the biosurfactant activity of actinobacterial strains previously isolated from R. graveolens. Fifteen previously isolated actinobacterial strains were inoculated into 100 mL Erlenmeyer flasks containing 30 mL of Kim’s broth supplemented with 3% filtered olive oil as a hydrophobic carbon source. After two weeks, biosurfactant productionwas analyzed by measuring the emulsification activity. Eight out of the 15 actinobacterial strains showed emulsification activity. All results were compared with a positive control consisting of Triton X100 (1mg/ml), and a negative control consisting in Kim’s broth. Almost all strains that revealed positive activity are affiliated to the actinobacterial species Tsukamurella tyrosinosolvens (7/8), with one strain belonging to the species Microbacterium gisengiterae. Comparative analysis with the positive control (with an emulsification activity of 60%), indicated that 3/8 samples showed high emulsification activity (>40%), 1 showed moderate activity (37%) and 4/8 showed low/moderate activity (20-30%). The subsequent phases of this study will involve analyzing if the potential biosurfactant compounds can reduce the surface tension and if they can represent new molecules.
- Functionalized liposomes and phytosomes loading Annona muricata L. aqueous extract: Potential nanoshuttles for brain-delivery of phenolic compoundsPublication . Mancini, Simona; Nardo, Luca; Gregori, Maria; Ribeiro, Inês; Mantegazza, Francesco; Delerue-Matos, Cristina; Masserini, Massimo; Grosso, ClaraMulti-target drugs have gained significant recognition for the treatment of multifactorial diseases such as depression. Under a screening study of multi-potent medicinal plants with claimed antidepressant-like activity, the phenolic-rich Annona muricata aqueous extract (AE) emerged as a moderate monoamine oxidase A (hMAO-A) inhibitor and a strong hydrogen peroxide (H2O2) scavenger.
- Isolation of Actinomycetes from marine sediments with potential to produce bioactive compoundsPublication . Ribeiro, Inês; Alexandrino, Diogo A. M.; Oliveira, Rui S.; Santos, Chiara; Pereira, Filipe; Mucha, Ana P.; Carvalho, Maria F.The various health problems experienced by the humanity, together with an increasing number of antibiotic-resistant microorganisms have been driven scientists to look for additional reserves of new bioactive substances. Actinomycetes are an important source of bioactive compounds with industrial and pharmaceutical interest. The distribution of this vast microbial group in the oceans is largely unexplored, making oceans an untapped and promising source of novel bioactive compounds.
- Neuron–microglia contact-dependent mechanisms attenuate methamphetamine-induced microglia reactivity and enhance neuronal plasticityPublication . Bravo, Joana; Ribeiro, Inês; Terceiro, Ana Filipa; Andrade, Elva B.; Portugal, Camila Cabral; Lopes, Igor M.; Azevedo, Maria M.; Sousa, Mafalda; Lopes, Cátia D. F.; Lobo, Andrea C.; Canedo, Teresa; Relvas, João Bettencourt; Summavielle, TeresaExposure to methamphetamine (Meth) has been classically associated with damage to neuronal terminals. However, it is now becoming clear that addiction may also result from the interplay between glial cells and neurons. Recently, we demonstrated that binge Meth administration promotes microgliosis and microglia pro-inflammation via astrocytic glutamate release in a TNF/IP3R2-Ca2+-dependent manner. Here, we investigated the contribution of neuronal cells to this process. As the crosstalk between microglia and neurons may occur by contact-dependent and/or contact-independent mechanisms, we developed co-cultures of primary neurons and microglia in microfluidic devices to investigate how their interaction affects Meth-induced microglia activation. Our results show that neurons exposed to Meth do not activate microglia in a cell-autonomous way but require astrocyte mediation. Importantly, we found that neurons can partially prevent Meth-induced microglia activation via astrocytes, which seems to be achieved by increasing arginase 1 expression and strengthening the CD200/CD200r pathway. We also observed an increase in synaptic individual area, as determined by co-localization of pre- and post-synaptic markers. The present study provides evidence that contact-dependent mechanisms between neurons and microglia can attenuate pro-inflammatory events such as Meth-induced microglia activation.