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| Registros recuperados: 12 | |
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| Pereira,F.S.; Jardim,L.B.; Netto,C.B.; Burin,M.G.; Cecchin,C.; Giugliani,R.; Matte,U.S.. |
| Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the a-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fabry disease; Lysosomal disorders; A-Galactosidase A; Globotriaosylceramide storage; GLA gene. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007001200002 |
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| Giacomazzi,J.; Aguiar,E.; Palmero,E.I.; Schmidt,A.V.; Skonieski,G.; Duarte Filho,D.; Bock,H.; Saraiva-Pereira,M.L.; Schuler-Faccini,L.; Camey,S.A.; Caleffi,M.; Giugliani,R.; Ashton-Prolla,P.. |
| Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: STK15 F31I polymorphism; Breast cancer risk; Mammographic density. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400004 |
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| Castilhos,R.M.; Blank,D.; Netto,C.B.O.; Souza,C.F.M.; Fernandes,L.N.T.; Schwartz,I.V.D.; Giugliani,R.; Jardim,L.B.. |
| Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopathies and to present validating data for JOA in these diseases. A new scale, Severity Score System for Progressive Myelopathy (SSPROM), covering motor disability, sphincter dysfunction, spasticity, and sensory losses. Inter- and intra-rater reliabilities were measured. External validation was tested by applying JOA, the Expanded Disability Status Scale (EDSS), the Barthel index, and the Osame Motor... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Japanese Orthopaedic Association; Severity Score System for Progressive Myelopathy; Mucopolysaccharidosis; Mucolipidosis; Adrenomyeloneuropathy; Progressive myelopathies. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000700001 |
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| Balestrin,R.C.; Baldo,G.; Vieira,M.B.; Sano,R.; Coelho,J.C.; Giugliani,R.; Matte,U.. |
| GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated frequency of 1:17,000. The enzyme is secreted and can be captured by deficient cells and targeted to the lysosomes. There is no effective treatment for GM1 gangliosidosis. To determine the efficiency of an expression vector for correcting the genetic defect of GM1 gangliosidosis, we tested transfer of the ß-Gal gene (Glb1) to fibroblasts in culture using liposomes. ß-Gal cDNA was cloned into the expression vectors pSCTOP and pREP9. Transfection was performed using 4 µL lipofectamine 2000 and 1.5-2.0 µg DNA. Cells (2 x 10(5)/well) were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: GM1 gangliosidosis; SS-galactosidase deficiency; Gene therapy; Lysosomal storage disorder; Lipofectamine. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000400005 |
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| C. Neto,E.; Schulte,J.; Rubim,R.; Lewis,E.; DeMari,J.; Castilhos,C.; Brites,A.; Giugliani,R.; Jensen,K.P.; Wolf,B.. |
| Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Newborn screening; Biotinidase deficiency; Biotinidase; Mutations; Enzyme assay. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000300001 |
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| Brustolin,S.; Giugliani,R.; Félix,T.M.. |
| Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Homocysteine; Hyperhomocysteinemia; Folate metabolism; Single nucleotide polymorphism; Susceptibility genes. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000100001 |
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| Burlamaque-Neto,A.C.; Santos,G.R.; Lisbôa,L.M.; Goldim,J.R.; Machado,C.L.B.; Matte,U.; Giugliani,R.. |
| In Brazil, scientific research is carried out mainly at universities, where professors coordinate research projects with the active participation of undergraduate and graduate students. However, there is no formal program for the teaching/learning of the scientific method. The objective of the present study was to evaluate the comprehension of the scientific method by students of health sciences who participate in scientific projects in an academic research laboratory. An observational descriptive cross-sectional study was conducted using Edgar Morin complexity as theoretical reference. In a semi-structured interview, students were asked to solve an abstract logical puzzle - TanGram. The collected data were analyzed using the hermeneutic-dialectic analysis... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Scientific method; Complexity; Academic scientific research. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000200001 |
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| Jobim,P.F.C.; Prado-Lima,P.A.S.; Schwanke,C.H.A.; Giugliani,R.; Cruz,I.B.M.. |
| Epidemiological investigations suggest that T102C polymorphism of gene 5-HT2A may be associated with mean life span because diseases and behaviors related to this polymorphism, such as schizophrenia, suicide, aggression, and addiction, may potentially shorten mean life span. A sample of 687 individuals without previous neuropsychiatric disease was genotyped and separated into 3 groups according to their gender and age: 14-45 years old, 46-64 years old and 65-100 years old. Molecular genotyping was performed using the technique of polymerase chain reaction followed by restriction fragment length polymorphism using HpaII restriction enzyme. 5-HT2A genotype frequencies were: TT = 21.5% (148), CC = 16.6% (114) and TC = 61.9% (425) and allele frequencies were T... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mean life span; Serotonin; Receptor 2A; T102C polymorphism. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001100012 |
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| Giacomazzi,J.; Aguiar,E.; Palmero,E.I.; Schmidt,A.V.; Skonieski,G.; Filho,D.D.; Bock,H.; Saraiva-Pereira,M.L.; Ewald,I.P.; Schuler-Faccini,L.; Camey,S.A.; Caleffi,M.; Giugliani,R.; Ashton-Prolla,P.. |
| Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genetic polymorphisms; Estrogen receptor gene; Progesterone receptor gene; Breast cancer susceptibility. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001000002 |
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| Burin,M.; Dutra-Filho,C.; Brum,J.; Mauricio,T.; Amorim,M.; Giugliani,R.. |
| This study was designed to evaluate the effect of different conditions of collection, transport and storage on the quality of blood samples from normal individuals in terms of the activity of the enzymes ß-glucuronidase, total hexosaminidase, hexosaminidase A, arylsulfatase A and ß-galactosidase. The enzyme activities were not affected by the different materials used for collection (plastic syringes or vacuum glass tubes). In the evaluation of different heparin concentrations (10% heparin, 5% heparin, and heparinized syringe) in the syringes, it was observed that higher doses resulted in an increase of at least 1-fold in the activities of ß-galactosidase, total hexosaminidase and hexosaminidase A in leukocytes, and ß-glucuronidase in plasma. When the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage diseases; Lysosomal enzymes; Inborn errors of metabolism; Reference laboratories; Storage of blood samples; Sample handling. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000000900003 |
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| Registros recuperados: 12 | |
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