Percorrer por autor "Ribeiro, S."
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- Early Diagnosis of Mucopolysaccharidoses in PediatricsPublication . da Silva Gaspar, Paulo Jorge Miranda; Neiva, Raquel; Sousa e Silva, Lisbeth Elena; Diogo, Luisa; Ferreira, A.; Miranda, A.; Ribeiro, S.; Antunes, D.; Garcia, P.; Rodrigues, E.; Campos, T.; Janeiro, P.; Lopes, Altina; Pereira, Cristina; Nogueira, Célia; Sousa, S.; Ferreira, S.; Alves, Sandra; Leão Teles, Elisa; Vilarinho, LauraIntroduction: 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 redflags of MPSs at pediatric age and to provide a useful tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy.
- Early Diagnosis of Mucopolysaccharidoses in PediatricsPublication . Gaspar, Paulo; Neiva, Raquel; Silva, Lisbeth; Diogo, L.; Ferreira, A.; Miranda, A.; Ribeiro, S.; Antunes, D.; Garcia, P.; Rodrigues, E.; Campos, T.; Janeiro, P.; Lopes. Altina; Pereira, Cristina; Nogueira, Célia; Nogueira, C.; Sousa, S.; Ferreira, S.; Alves, S.; Teles, E.; Vilarinho, LauraIntroduction: 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 a useful tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy. Methods: MPSs clinical suspicious were addressed by performing seven distinct enzymatic assays in dried blood spots, in order to understand whether any of those specific enzymes was deficient. For positive cases, the identification of glycosaminoglycans and the molecular study is carried out. Results/Case report: In the first eight years of the project, we have identified 12 patients (five MPS I; one MPS II; two MPS IIIB, one MPS IVA, two GM1 and one MPS VI) out of the 385 samples studied. In the majority of the patients identified, the age of diagnosis was less than 3 years of age, which is much lower when compared to the mean age of diagnosis of 6 years old, reported by Pinto et al, 2004. Conclusion: These results, shows that this project was successful also in its educational component, by raising the concern and awareness for these multisystemic pathologies that are linked to high morbidity.
- Ongoing monkeypox virus outbreak, Portugal, 29 April to 23 May 2022Publication . Duque, M.P.; Ribeiro, S.; Martins, J.V.; Casaca, P.; Leite, P. P.; Tavares, M.; Mansinho, K.; Duque, L.M.; Fernandes, C.; Cordeiro, R.; Borrego, M.J.; Pelerito, A.; Lopes de Carvalho, I.; Núncio, S.; Manageiro, V.; Minetti, C; Machado, J.; Haussig, J.M.; Croci, R.; Spiteri, G.; Casal, A.S.; Mendes, D.; Souto, T.; Pocinho, S.; Fernandes, T.; Firme, A.; Vasconcelos, P.; Freitas, G.Up to 27 May 2022, Portugal has detected 96 confirmed cases of monkeypox. We describe 27 confirmed cases (median age: 33 years (range: 22–51); all males), with an earliest symptom onset date of 29 April. Almost all cases (n = 25) live in the Lisbon and Tagus Valley health region. Most cases were neither part of identified transmission chains, nor linked to travel or had contact with symptomatic persons or with animals, suggesting the possible previously undetected spread of monkeypox.