Navegando por Autor "CAVALEIRO, Rosely Maria dos Santos"
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Artigo de Periódico Acesso aberto (Open Access) Mucopolysaccharidoses in northern Brazil: targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy(2011) VIANA, Gustavo Monteiro; LIMA, Nathalia Oliveira de; CAVALEIRO, Rosely Maria dos Santos; ALVES, Erik Artur Cortinhas; SOUZA, Isabel Cristina Neves de; FEIO, Raimunda Helena; LEISTNER-SEGAL, Sandra; SCHWARTZ, Ida Vanessa Doederlein; GIUGLIANI, Roberto; SILVA, Luiz Carlos Santana daMucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers.Tese Acesso aberto (Open Access) Nanofiltração de hormônios e metais pesados em nanotubos de carbono e de boro por dinâmica molecular(Universidade Federal do Pará, 2020-02-27) CAVALEIRO, Rosely Maria dos Santos; CHAVES NETO, Antonio Maia de Jesus; http://lattes.cnpq.br/3507474637884699; https://orcid.org/0000-0002-9730-3512Sewage treatment stations receive various effluents and perform the selective filtering of molecules that can, if they persist in the water, contaminate or the environment. Selection processes initiated by larger sections down to nanoparticles. Among the molecules called emerging contaminants are hormones and heavy metals that impact on graves consequences on organisms by endocrine-disrupting action. When surface waters receive effluents with traces of contamination and hormones or heavy metals, they will cause diseases in living beings, especially in pregnant women and children, as well as interfering in the chains of DNA, also affecting the next generations. This study of molecular tests carried out with nanofiltration: water with hormones and water with heavy metals filtered through carbon nanotubes and boron nitrogen, under the action of 8 (eight) electric fields lasting 100 (hundred) ps. The study hormones were: estrone, estradiol, estriol, progesterone, ethinylestradiol, levonorgestrel, diethylbestrol, and heavy metal ions: lead, cadmium, iron, zinc, and mercury. Each of the hormone molecules and the heavy metal were filtered through two nanotubes, under the same boundary conditions. The selected results that allow creating nanofiltration systems that can be removed micropollutants using carbon nanotubes or boron nitride activated by the uniform electrical fields from 10-5 a.u. to 10-8 a.u.
