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- Allergic rhinitis and work productivity: Preliminary analysis of data from the MASK-air applicationPublication . Ferreira, Laura; Pinto, Bernardo Sousa; Alves, Sandra Maria; Amaral, Rita; Alves, Sandra Maria; Amaral, RitaAllergic rhinitis is a health condition more prevalent in developed countries that can impact the activities and quality of life of affected individuals1. Although its impact on work productivity is recognized2, there is still a need for a more detailed understanding and quantification. This cross-sectional observational study investigates the relationship between allergic rhinitis and work productivity, using data from the MASK-air mobile designed for monitoring allergic rhinitis and related respiratory conditions3. To investigate the association between the severity of allergic rhinitis symptoms and the impact on work productivity. Data was collected through the MASK-air mobile application4,5 that contains demographic, environmental and symptom variables on a daily basis, with users providing information on a scale of 0 to 100 each day. A sample of 1000 random observations of users from 30 countries, recorded between May 2015 and December 2023 was analysed. Participants were selected based on specifics criteria, including a minimum age of 15 or 16 (depending on the digital consent age in each country) and self-reported diagnosis of allergic rhinitis. Descriptive statistics and the Spearman correlation coefficient6 between symptoms and impact on productivity were calculated. The sample showed a balanced distribution between sexes, with 435 individuals identified as female (53.5%) and 378 individuals as male (46.5%). The mean age of participants was 41.41 ± 14.50 years. The data included participants from various countries; the most frequent was from Mexico with 141 participants (17.3%), followed by Lithuania with 91 participants (11.9%), and Germany with 79 participants (9.7%). Regarding comorbidities, 535 participants (65.6%) reported having conjunctivitis, and 310 participants (38.1%) reported being asthmatic. Additionally, 200 participants (20%) used immunotherapy. A strong positive correlation was observed between work impact and the severities of global allergic symptoms (ρs= 0.82, p < 0.0001) and nasal symptoms (ρs= 0.77, p < 0.0001); and a moderate correlation was observed between work impact and the severities of ocular symptoms (ρs= 0.69, p < 0.0001) and asthma (ρs= 0.48, p< 0.0001). This study offers an initial understanding of how symptoms of allergic rhinitis affect work productivity. Identifying other associated factors will allow targeting health interventions and policies to improve the well-being and performance of workers affected by this condition.
- 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.
- Comprehensive multi-omics database for highly infectious viruses: a focus on HIV, Ebola and SARS-CoV-2Publication . Lima, A. S.; Carneiro, J.; Sousa, S.; Sá, Vítor Júlio; Pratas, D.Highly infectious viruses, such as HIV, Ebola, and SARS-CoV-2, continue to pose significant threats to global health, underlining the urgent need for new therapeutic approaches. Recent advancements in genomic and proteomic databases, along with 3D homology modelling, have enabled detailed simulations of virus-host interactions, providing insights into infection mechanisms and helping identify potential therapeutic targets. This study aimed to create a unified database of highly infectious viruses and to conduct structural analyses of key viral proteins to explore potential therapeutic strategies. Structural information for proteins involved in the infection process was sourced from the Protein Data Bank and UniProt, while 3D homology models for significant viral variants were generated using AlphaFold. The quality of these models was assessed using AlphaFold-specific metrics, including pLDDT (per-residue confidence scores) and PAE (predicted aligned error), ensuring the structural reliability for further analyses. Identification of the most relevant structural changes was done through alanine scanning in Schrödinger’s Biologic Suite, with posterior studies on how those changes affected the infection process. Simulations of virus-host interactions were conducted using docking algorithms, namely HADDOCK, with visualizations performed using PyMOL. This integrative approach highlights high-confidence therapeutic targets and provides a foundation for developing novel effective treatments for highly infectious diseases.
- Dermocosmética: qualidade na produção e análise comparativaPublication . Neves, Joana; Oliveira, Ana Isabel; Nascimento, Ana Paula; Cunha, Sofia; Nogueira, Lúcia; Silva, Manuel; Prudêncio, Cristina; Vieira, MónicaOs cosméticos podem ser utilizados na higiene pessoal ajudando a melhorar a aparência. Para a sua produção, é necessário o cumprimento de normas específicas que garantam a qualidade do produto, pelo que o design da estrutura onde estes são produzidos é um fator determinante.
- Development of a cellprofiler pipeline to evaluate adipocyte differentiationPublication . Andrade, João; Torres, Sílvia; Coelho, Pedro; Coelho, PedroObesity is a complex chronic disease characterized by excessive body fat accumulation, with increasingly prevalence worldwide, burdening individuals and healthcare systems, thus urgent research is needed. (1,2) Adipocytes, the major cellular component of adipose tissue, are cells vastly used by the scientific community for in vitro studies of obesity. (3) Oil red O (ORO) staining and quantification is widely used for intracellular lipid staining and adipogenesis evaluation. Modern microscopy and image analysis software like CellProfiler enable efficient, high-throughput cellular image analysis, improving biological understanding and overcoming manual microscopy processing limitations. (4) The present work aimed to develop an in silico image-based method to evaluated lipid accumulation along the differentiation and adipogenesis of adipocytes. Briefly, 3T3-L1 preadipocytes were differentiated with a cocktail of insulin (10 µg/mL), dexamethasone (1 µM) and 3- isobutyl-1-methylxanthine (0.25 mM) and maintained in culture for 12 days. Brightfield contrast phase images, before and after ORO staining, were captured every two days. Lipid-droplet accumulation was evaluated by both CellProfiler analysis and ORO quantification. Throughout differentiation, 3T3-L1 cells exhibited adipocyte- like morphological changes, with increasing lipid accumulation, detected by ORO staining. CellProfiler automated image analysis was comparable to ORO staining quantification, both detecting, approximately after day 4, the presence and accumulation of lipid droplets. The results showed that along differentiation of 3T3-L1 cells into mature adipocytes, CellProfiler evaluation of lipid accumulation provided similar results as ORO staining. Altogether, automated in silico image-based protocols can be used to investigate adipogenic differentiation in vitro, overcoming the demanding conventional quantitative methods.
- Diabetic neuropathy and oxidative stress: a systematic review focused on oxidative stress biomarkers analysisPublication . Cunha, Sofia; Nascimento, Ana Paula; Vieira, Mónica; Prudêncio, CristinaDiabetic neuropathy is a worldwide disease with great impact in modern society. Diabetes may lead to the overproduction of reactive oxygen species, resulting in an imbalance in body’s redox homeostasis. Oxidative stress is pointed as an important phenomenon associated with several disease states, including diabetic neuropathy.
- A Farmácia Caseira – uma estratégia de desenvolvimento de competências transversais em bioestatística em farmáciaPublication . Cruz, Agostinho; Alves, Sandra Maria; Nascimento, Ana Paula; Santos, Marlene; Correia, Patrícia Carla dos Santos; Jesus, Ângelo; Ferraz Oliveira, Rita; Pinho, Cláudia; Pimenta, RuiEm todas as residências é prática comum a existência de medicamentos e produtos afins, que se encontram a uso, uso esporádico ou que se encontram já fora de uso, como resultado da sua aquisição por prescrição médica ou por iniciativa própria. Se refletirmos na necessidade da existência de boas práticas na organização e gestão desta “Farmácia Caseira”, facilmente verificamos da sua importância em termos não só económicos, mas, principalmente, em termos de saúde pública. Na Escola Superior de Saúde do Instituto Politécnico do Porto (ESS- P.Porto), a utilização da Farmácia Caseira como estratégia pedagógica tem um histórico de mais de 20 anos. Com o objetivo de promover a interdisciplinaridade o grupo de bioestatística utilizou estes dados no desenvolvimento de um conjunto de enunciados de cariz prático na Unidade Curricular (UC) de Fundamentos de Planeamento Experimental do curso de Farmácia, ESS- P.Porto. Estes enunciados permitiram a aplicação prática a dados reais recolhidos pelos estudantes dos conteúdos programáticos da UC (teoria das probabilidades, estatística descritiva e inferencial). Os dados, recolhidos anualmente pelos estudantes, são variáveis de caracterização: i) sociodemográfica do agregado familiar; ii) perfil dos medicamentos existentes na Farmácia Caseira; e iii) condições de armazenamento. A metodologia proposta permitiu: a) integrar a estatística no contexto de atuação dos futuros licenciados; b) enfatizar a componente conceptual da estatística; c) trabalhar com dados reais recolhidos pelos estudantes; d) desenvolver, para além das competências cognitivas, as competências atitudinais, estratégicas e de utilização de novas tecnologias no tratamento da informação. Os instrumentos desenvolvidos foram aplicados com sucesso tornando mais visível a utilidade da bioestatística aplicada à área da farmácia, melhorando a atitude face à aprendizagem da mesma, promovendo uma consciência crítica na análise e aplicação dos métodos estatísticos contribuindo para a formação de profissionais com maior autonomia e capacitados para uma prática baseada na evidência.
- How we are treating osteoporotic hip fractures (OHF)? A nationwide observational study in PortugalPublication . Alves, Carlos M. F. P.; Alves, Sandra; Pina, Maria F.Analyze changes in treatment of osteoporotic hip fractures (OHF) in Portugal, between 2000-2008. Discharges with diagnosis of hip fracture between 2000-2008 were collected from the national register of hospital discharges, mandatory for all Portuguese public hospitals. Chi-square test was used to access independence between sex, age groups, treatment and fatality. Linear regression was used to access temporal trends
- Impacto de uma experiência b-Learning em Problem Based LearningPublication . Miranda, Leonor; Faias, Joaquim; Pereira, Ilídio; Coelho, Tiago; Amorim, Humberta; Baylina, Pilar; Monteiro, Fátima; Curado, HenriqueFace aos desafios de otimizar o processo de ensino aprendizagem, numa convergência com as melhores práticas internacionais, foi realizada alguma experiência b-Learning (bL) num sistema pedagógico de Problem Based Learning (PBL), atualmente adotado pelo curso de Terapia ocupacional (TO) da Escola Superior de Tecnologia da Saúde do Porto (ESTSP). Esta iniciativa pretendeu confluir adequadamente com a reforma Bolonha1,2, com recomendações da European Network of Occupational Therapy in Higher Education3 e da Quality Assurance Agency for Higher Education4, e com algumas necessidades emergentes da melhoria contínua do processo de ensino aprendizagem do curso de TO5,6. Inclusive, a avaliação desta experiência visa contribuir para a identificação de oportunidades de melhoria.
- In-silico prediction of the complete ataxin-3 protein network relevant for Spinocerebellar Ataxia type 3 (SCA3)Publication . Batista, Paulo; Vieira, Jorge; Vieira, Cristina P.; Faria, Brígida Mónica; Faria, Brigida MonicaSpinocerebellar ataxia type 3, also known as Machado Joseph disease (SCA3/MJD), is the most common inherited ataxia worldwide and is caused by a pathogenic expansion of the polyglutamine (polyQ) tract, located at the C-terminal region of the ataxin-3 protein (1). The polyQ region is involved in the stabilization of protein- protein interactions (PPIs). Abnormal polyQ expansion results in structural changes of the ataxin-3 (2,3), implying different accessibility at specific interacting residues, needed for the normal protein activity. PolyQ proteins have large protein networks. Mapping of PPIs has been performed using high-throughput methods, that are known to produce false interactions (4). Therefore, the use of multiple interactomes comparisons (conserved interactions between pairs of proteins which have interacting homologs in another organism, as well as proteomic data from cell lines, patients, mutants expressing a human protein, and cross-species genetic screens (modifier screens), available at EvoPPI3 (5)), together with in-silico analyses, can be used to support PPIs, as well as identify novel interactors. In this work we will: 1- characterize ataxin-3 network (validating the proteins identified in main databases, as well as identify new putative interactors); 2- identifying the interactors that behave differently in the presence of an expanded polyQ using different 3D structure prediction methods and protein docking methods. Using EvoPPI3 and protein expression in tissues that matter to SCA3 for PPI retrieval and validation, as well as identification of new interactors. In-silico approaches for predicting protein binding differences between wildtype and expanded ataxin-3 forms will be performed, using different a) 3D protein structure predictions (namely ITASSER (6), AlphaFold (7), and D-ITASSER (8)) and b) protein docking methodologies (such as HADDOCK (9) and ClustPro (10). Using EvoPPI3, there are 422 ataxin-3 interactors in human main databases. From this, 250 proteins have been previously studied. Of the remaining 172 proteins, 158 have been reported from proteomic analyses of human cell lines and ataxin-3 patients (H. sapiens polyQ_22 database), and these could be true interactors. 28 proteins are in common when considering the polyQ, Mus musculus interlogs and Danio rerio interlogs, and these could be novel interactors to study. From the 158, 73 proteins bind more to the expanded form of ataxin-3 using AlphaFold, to confirm these results we used ITASSER, where we obtained 46 of the 73 that bind more to the expanded form. This study contributes significantly to understanding SCA3 pathology by delineating a network of ataxin-3 interactors and analysing their behaviour in the presence of an expanded polyQ stretch.