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Koppe T.,Federal University of Rio Grande do Sul | Vairo F.,Federal University of Rio Grande do Sul | Vairo F.,Hospital Of Clinicas Of Porto Alegre Hcpa | Camargo M.,Federal University of Rio Grande do Sul | And 5 more authors.
Molecular Genetics and Metabolism Reports | Year: 2015

β2-Microglobulin is the major prognostic factor in multiple myeloma, a known comorbidity of Gaucher disease. We evaluated herein serum β2-microglobulin levels of 31 type 1 Gaucher patients; for 8/31 patients, pre- and post-treatment comparisons were made. Thirteen patients (on treatment = 6) had high levels of β2-microglobulin, and showed higher chitotriosidase activity and Severity Score Index, and lower concentration of platelets, than patients with normal levels. Levels of β2-microglobulin correlated with chitotriosidase activity (ρ = 0.65; p < 0.01), platelets (ρ = - 0.42; p = 0.02) and α1- (ρ = 0.43; p = 0.02) and α2-protein bands (ρ = - 0.40; p = 0.03). Regarding pre- and post-treatment values, median β2-microglobulin levels decreased after treatment (pre- = 2931 ng/mL; post- = 1970 ng/mL; p < 0.01). Our data suggest that levels of serum β2-microglobulin are frequently elevated in type 1 Gaucher patients, correlate with severity of the disease and decrease after treatment. © 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license.


Alegra T.,Federal University of Rio Grande do Sul | Koppe T.,Federal University of Rio Grande do Sul | Acosta A.,Complexo Hospitalar Universitario Professor Edgard Santos | Acosta A.,Federal University of Bahia | And 15 more authors.
Meta Gene | Year: 2014

Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II biochemical abnormalities may hinder prenatal diagnosis,we suggest DNA analysis should be performed whenever possible. © 2014 The Authors.

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