Marli Teresinha Viapiana Camelier
Universidade Federal do Rio Grande do Sul
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Featured researches published by Marli Teresinha Viapiana Camelier.
Clinica Chimica Acta | 2011
Marli Teresinha Viapiana Camelier; Maira Graeff Burin; Jurema Fatima de Mari; Taiane Alves Vieira; Giórgia Marasca; Roberto Giugliani
BACKGROUND Mucopolysaccharidosis IVA (MPS IVA), or Morquio Syndrome type A, is an autosomal recessive disease caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS), resulting in excessive lysosomal storage of keratan sulfate in many tissues and organs. This accumulation causes a severe skeletal dysplasia with short stature, and affects the eye, heart and other organs, with many signs and symptoms. Morquio A syndrome is estimated to occur in 1 in 200,000 to 300,000 live births. Clinical trials with enzyme replacement therapy for this disease are in progress, and it is probable that the treatment, when available, would be more effective if started early. We describe an innovative fluorometric method for the assay of GALNS in dried blood spots (DBS). METHODS We used dried blood spots (DBS) as the enzyme source and compared it with leukocytes samples, having studied 25 MPS IVA patients and 54 healthy controls. We optimized the assay conditions, including incubation time and stability of DBS samples. To eppendorf type tubes containing a 3-mm diameter blood spot we added elution liquid and substrate solution. After 2 different incubations at 37°C, the amount of hydrolyzed product was compared with a calibrator to allow the quantification of the enzyme activity. Results in DBS were compared to the ones obtained in leukocytes using the standard technique. RESULTS The fluorescent methodology was validated in our laboratory and the assay was found sensitive and specific, allowing reliable detection of MPS IVA patients. The use of DBS simplifies the collection and transport steps, and is especially useful for testing patients from more remote areas of large countries, and when samples need to cross country borders. CONCLUSION This assay could be easily incorporated into the protocol of reference laboratories and play a role in the screening for MPS IVA, contributing to earlier detection of affected patients.
Clinica Chimica Acta | 2015
Marli Teresinha Viapiana Camelier; J. De Mari; Maira Graeff Burin; Gabriel Civallero; Roberto Giugliani
BACKGROUND Lysosomal storage diseases (LSD) are a group of genetic conditions which could present a vast spectrum of abnormalities that may include skeletal abnormalities, organ dysfunction, neuronal involvement, and tissue accumulation of complex molecules, among other manifestations. Definitive diagnosis of LSD is generally obtained by specific enzyme assays performed in leukocytes, fibroblasts, or more recently, dried-blood filter paper (DBFP) samples. METHODS We recently introduced dried-leukocytes filter paper (DLFP) as an alternative source of enzyme to assay heparan sulfamidase and galactocerebrosidase activities, which could not be measured in DBFP samples using fluorometric methods. We present a new fluorometric methods on DLFP samples, for evaluation of α-glucosidase (GAA), β-glucosidase (GBA), and N-acetylgalactosamine-6-sulfatase (GALNS) activities, key enzyme assays for the identification of patients with Pompe disease (PD), Gaucher disease (GD), and Morquio A disease (MD), respectively. RESULTS We show a clear discrimination between confirmed PD, GD, and MD patients and healthy controls. CONCLUSIONS We conclude that the assays of GAA, GBA, and GALNS on DLFP are reliable and useful methods for the identification of PD, GD, and MD diseases, respectively. As sample preparation is feasible in standard biochemical laboratories and transportation is very simple, it could enable patients living in remote areas to be investigated, diagnosed and eventually treated with the specific therapies available for these diseases.
Cell Proliferation | 2010
A. S. De Mello; Franciele Rachel Provin; K. Michelin‐Tireli; Marli Teresinha Viapiana Camelier; Janice Carneiro Coelho
Objectives: The Epstein–Barr virus (EBV) is utilized as a tool in the study of cellular biology because of its capacity to transform B‐lymphocytes. For this reason, EBV is used in conservation of human B‐lymphocytes for long periods for subsequent evaluation of lysosomal hydrolase activity. Lymphoblastoid cell lines have several advantages for use over other cell types, such as prompt availability and possibility to develop, characterize and standardize cell banks, to test effects of promising pharmaceutical reagents. The study below presents biochemical data that demonstrate validity of lymphoblastoid cell lines for diagnosis of GM1‐gangliosidosis, Gaucher, Fabry and Pompe diseases and mucopolysaccharidosis type I.
BioMed Research International | 2011
A. S. de Mello; F. B. Mendes; K. Michelin‐Tireli; Marli Teresinha Viapiana Camelier; Janice Carneiro Coelho
Background. The Epstein-Barr virus (EBV) was used as an agent of B lymphocyte proliferation for subsequent diagnosis of lysosomal storage disease. Due to the constant handling of long-preserved samples in our cell bank, we decided to observe the behavior and then compare cultured and frozen samples for at least one years cryopreservation. Methods. Twenty-five samples from healthy individuals were used to assess the possible changes in activity of enzymes β-galactosidase, β-glucosidase, α-iduronidase, α-galactosidase, and α-glucosidase. Transmission electron microscopy was used to confirm cell transformation of B lymphocytes into EBV-infected cells, generating lymphoblastoid cell lines. Results. Transmission electron microscopy findings confirmed previous reports in the literature that is, significant and evident morphological changes in the nucleus occur after day 12 and the consequent cell transformation into EBV-infected cells. After thawing and subsequent treatment with the five enzymes utilized, we observed no significant changes in samples cryopreserved for more than one year, as compared to samples cultured for 12 days.
Molecular Genetics and Metabolism | 2015
Marli Teresinha Viapiana Camelier; Gabriel Civallero; Jurema Fatima de Mari; Maira Graeff Burin; Roberto Giugliani
Archive | 2013
Fernanda Medeiros Sebastião; Marli Teresinha Viapiana Camelier; Fernanda Bender; Carla Streit; Maira Graeff Burin
Archive | 2010
Andressa Gomes; Giórgia Marasca; Fernanda Bender; Fernanda Medeiros; Regis Rolim Guidobono; Kristiane Michelin Tirelli; Jurema Fatima de Mari; Marli Teresinha Viapiana Camelier; Marcelle Carniel; Roberto Giugliani; Maira Graeff Burin
Archive | 2010
Fernanda Bender; Andressa Gomes; Roberto Giugliani; Maira Graeff Burin; Kristiane Michelin Tirelli; Regis Rolim Guidobono; Marcelle Carniel; Marli Teresinha Viapiana Camelier; Fernanda Medeiros; Giórgia Marasca; Jurema Fatima de Mari
Archive | 2009
Franciane Brackmann Mendes; Alexandre Silva de Mello; Franciele Rachel Provin; Kristiane Michelin; Marli Teresinha Viapiana Camelier
Archive | 2007
Gabriela Broilo Ferreira; Maira Graeff Burin; Kristiane Michelin Tirelli; Marli Teresinha Viapiana Camelier; Regis Rolim Guidobono; Jurema Fatima de Mari; Fernanda Hendges de Bitencourt; Bruna Doleys Cardoso; Juarez Mendes Huve; Roberto Giugliani; Janice Carneiro Coelho
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Ida Vanessa Doederlein Schwartz
Universidade Federal do Rio Grande do Sul
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