Percorrer por autor "Ferreira, Sara"
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- Find Project: Results of 8 YearsPublication . da Silva Gaspar, Paulo Jorge Miranda; Neiva, Raquel; Sousa e Silva, Lisbeth Elena; Guimarães, Fábio; Diogo, Luisa; Ferreia, Ana Cristina; Miranda, Ana; Antunes, Diana; Louro, Pedro; Ribeiro, Sara; Garcia, Paula; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, Patrícia; Sousa, Sérgio; Ferreira, Sara; Silva, Carmen; Lopes, Altina; Pereira, Cristina; Nogueira, Célia; Alves, Sandra; Leão Teles, Elisa; Vilarinho, LauraIntrodução e Objectivos: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years or even missed. The FIND PROJECT was designed to claim awareness to the red flags of MPSs at pediatric age and to provide an useful tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy.
- Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II PatientsPublication . Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Duarte, Ana Joana; Gaspar, Paulo; Rocha, Hugo; Encarnação, Marisa; Ribeiro, Diogo; Barbosa Almeida, Matilde; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Amaral, Olga; Diogo, Luísa; Ferreira, Sara; Santos, Constança; Martins, Esmeralda; Prata, Maria João; Pereira de Almeida, Luís; Alves, Sandra; Coutinho, Maria FranciscaAmong the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we present our results on the establishment and characterization of two MPS II patient-derived stem cell line(s) from deciduous baby teeth. To the best of our knowledge, this is the first time a stem cell population has been isolated from LSD patient samples obtained from the dental pulp. Taking into account our results on the molecular and biochemical characterization of those cells and the fact that they exhibit visible and measurable disease phenotypes, we consider these cells may qualify as a valuable disease model, which may be useful for both pathophysiological assessments and in vitro screenings. Ultimately, we believe that patient-derived dental pulp stem cells (DPSCs), particularly those isolated from human exfoliated deciduous teeth (SHEDs), may represent a feasible alternative to induced pluripotent stem cells (iPSCs) in many labs with standard cell culture conditions and limited (human and economic) resources.
- A Multiplex Biomarker panel: A powerful tool for LSDs DiagnosisPublication . Neiva, Raquel; da Silva Gaspar, Paulo Jorge Miranda; Sousa e Silva, Lisbeth Elena; Gonçalves, Isabel; Ferreira, Sara; Diogo, Luisa; Vilarinho, LauraIntrodução / Descrição do Caso: Lysosomal Storage Disorders (DLSs) are a set of rare, chronic and multisystemic pathologies with a variable mode of presentation and severity. Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease caused by pathogenic variants in SMPD1 gene. The disease manifestations frequently involve hepatosplenomegaly with progressive organ dysfunction, interstitial lung disease, and bleeding. The cellular damage caused by sphingomyelin accumulation can be irreversible and can lead to life-threatening complications with reduced life expectancy. ASMD can be underestimate and the diagnostic odyssey arise from an overlap in symptomology with other diseases, including primary hepatic disease, Gaucher disease, NPC, and lysosomal acid lipase deficiency.
- Nirsevimab Effectiveness Against RSV-Related Hospitalisations in Children Under 24 Months: A Test-Negative Case-Control Study in Portugal, 2024-2025Publication . Gaio, Vânia; Henriques, Camila; Lança, Miguel; Marques, Rita; Marques, Raquel; Rodrigues, Marta; Almeida, Sofia; Sousa, Beatriz; Freitas, Margarida; Amaral, Diana; Ferreira, Sara; Azevedo, Inês; von Hafe, Madalena; Gonçalves, Rafaela; Viseu, Regina; Bandeira, Teresa; Constant, Carolina; Malato, Madalena; Carvalho, Inês; Rodrigues, Jorge; Farinha, Margarida; Nunes, Teresa; Graça, Teresa; Gomez, Sofia; Soares, Sara; Neves, João Farela; Paixão, Paulo; Piscalho, Inês; Loureiro, Ana; Freitas, Cristina; Alves, José; Soares, Diana; Lopes, Paulo; Machado, Ausenda; Guiomar, Raquel; Rodrigues, Ana Paula; VigiRSV GroupWe assessed Nirsevimab effectiveness (NE) against respiratory syncytial virus (RSV)-related hospitalisation in eligible children (< 2 years) using a test-negative case-control design within the VigiRSV network (weeks 43/2024 to 16/2025). Among 341 participants (median age: 2 months; 91.2% without known chronic condition), 137 (40.2%) tested RSV-positive. Adjusted NE against RSV-related hospitalisation was 78.5% (95%CI: 59.3-89.0). Sensitivity analyses confirmed the robustness of the results. These findings support Nirsevimab's effect in a predominantly healthy infant population and contribute to informing public health decisions for RSV immunisation.