Consulta: creatorFacets:"Coelho,Janice Carneiro"
Registros recuperados: 6
Data/hora: 02/06/2024 03:39:24

Effect of amikacin, cephalothin, clindamycin and vancomycin on in vitro fibroblast growth
Provedor de dados: Genetics and Molecular Biology
Autores: Souza,Fernanda Timm Seabra; Mello,Alexandre Silva de; Michelin,Kristiane; Coelho,Janice Carneiro.
The effect of four antibiotics (amikacin, clindamycin, cephalothin and vancomycin) was investigated considering that bacterial infection in fibroblasts cultures is a very frequent event. The investigation included the effect of the antibiotics on fibroblast growth and on the activity of the enzyme glucocerebrosidase. The antibiotics were added to the fibroblast cultures and cell growth was evaluated by counting the number of cells and their viability. After cell harvesting, the enzyme activity and content of protein were measured. The results allowed us to conclude that none of the antibiotics affected the cellular number nor the cellular viability. The content of protein decreased when cephalothin and clindamycin were added to the cultures, and...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Amikacin; Cephalothin; Clindamycin; Vancomycin; Fibroblasts; Cell culture.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300023

Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil
Provedor de dados: Genetics and Molecular Biology
Autores: Santos,Cláudia Maria Carvalho dos; Correia,Patrícia Santana; Rosa,Antônio Abílio Santa; Vaniazzi,Elde; Coelho,Janice Carneiro; Burin,Maira Graeff; Giugliani,Roberto; Fensom,Anthony H.; Oliveira,Cesário Paulo Honório de; Oliveira,Maria Lúcia Costa  de; Llerena Jr.,Juan Clinton.
We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC) for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM) in high-risk children, carried out in Rio de Janeiro.
Tipo: Info:eu-repo/semantics/article
Ano: 1998
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400005

Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
Provedor de dados: Genetics and Molecular Biology
Autores: Coelho,Janice Carneiro; Giugliani,Roberto.
Skin biopsies are frequently indicated for investigation and/or confirmation of genetic disorders. Although relatively simple and noninvasive, these procedures require care in order to increase probability of success and to avoid patient discomfort and unnecessary repeated analyses and associated laboratory fees. The present report highlights the importance of skin biopsies in genetic disorder diagnosis and presents general rules for collecting, storing, transporting and processing samples. We recommend its reading to professionals intending to use this important and sometimes fundamental diagnostic tool.
Tipo: Info:eu-repo/semantics/article
Ano: 2000
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200004

Population analysis of the GLB1 gene in South Brazil
Provedor de dados: Genetics and Molecular Biology
Autores: Baiotto,Cléia; Sperb,Fernanda; Matte,Ursula; Silva,Cláudia Dornelles da; Sano,Renata; Coelho,Janice Carneiro; Giugliani,Roberto.
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: GM1 gangliosidosis; Beta-galactosidase; GLB1 gene; Founder effect; Linkage disequilibrium.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100009

Quantification of glucosylceramide in plasma of Gaucher disease patients
Provedor de dados: Brazilian Journal of Pharmaceutical Sciences
Autores: Muller,Maria Viviane Gomes; Petry,André; Vianna,Luciene Pinheiro; Breier,Ana Carolina; Michelin-Tirelli,Kristiane; Pires,Ricardo Flores; Trindade,Vera Maria Treis; Coelho,Janice Carneiro.
Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in clinical research laboratories. Comparison of the glucosylceramide content in plasma from Gaucher disease patients, submitted to enzyme replacement therapy or otherwise, against that from normal individuals was also carried out. The glucosylceramide, separated from other glycosphingolipids by high performance thin layer chromatography (HPTLC) was chemically developed (CuSO4 / H3PO4) and the respective band confirmed by immunostaining (human anti-glucosylceramide antibody / peroxidase-conjugated secondary...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Glucosylceramide; Blood plasma analysis; Gaucher disease.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-82502010000400005

Use of a commercial agarose gel for analysis of urinary glycosaminoglycans in mucopolysaccharidoses
Provedor de dados: Brazilian Journal of Pharmaceutical Sciences
Autores: Breier,Ana Carolina; Cé,Jaqueline; Coelho,Janice Carneiro.
ABSTRACT Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by deficiency of enzymes that degrade glycosaminoglycans (GAGs). Urinary excretion of GAGs is a common feature of MPS, and is considered their major biomarker. We aimed to adapt the GAG electrophoresis method to a commercial agarose gel which would be able to separate urinary GAGs in a simpler way with good sensitivity and reproducibility. Urine samples from patients previously diagnosed with MPS I, IV, and VI were used as electrophoretic standards. Samples from patients on enzyme replacement therapy (ERT) were also assessed. Commercial agarose gel electrophoresis was effective, showing proper definition and separation of GAG bands. Detection sensitivity exceeded 0.1...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Mucopolysaccharidoses/tests/treatment; Electrophoresis/monitoring method; Glycosaminoglycans/use.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-82502016000400693