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| Bachega,T.A.S.S.; Billerbeck,A.E.C.; Madureira,G.; Marcondes,J.A.M.; Longui,C.A.; Leite,M.V.; Arnhold,I.J.P.; Mendonça,B.B.. |
| We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%). The most frequent point mutations were I2 splice (41.8% in salt wasting - SW), I172N (32.6% in simple virilizing - SV) and V281L (40.2% in the late onset form - LO). The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Brazilian patients; CYP21 mutations; Genotype; Phenotype. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011 |
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| Atta,A.M.; Estevam,P.; Paraná,R.; Pereira,C.M.; Leite,B.C.O.; Sousa-Atta,M.L.B.. |
| Hepatitis C, a worldwide viral infection, is an important health problem in Brazil. The virus causes chronic infection, provoking B lymphocyte dysfunction, as represented by cryoglobulinemia, non-organ-specific autoantibody production, and non-Hodgkin's lymphoma. The aim of this research was to screen for the presence of antiphospholipid autoantibodies in 109 Brazilian hepatitis C virus carriers without clinical history of antiphospholipid syndrome. Forty healthy individuals were used as the control group. IgA, IgG, and IgM antibodies against cardiolipin and β2-glycoprotein I were measured with an enzyme-linked immunosorbent assay, using a cut-off point of either 20 UPL or 20 SBU. While 24 (22.0%) hepatitis C carriers had moderate titers of IgM... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hepatitis C virus; Antiphospholipid antibody; Brazilian patients. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000600009 |
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| DAlmeida,J.; Maliska,C.; Pellegrini,P. M.; Penas,M. E.; Collares,R. A.; Cruz,M. G. A.. |
| The present study was carried out at the Army Central Hospital, Rio de Janeiro, Brazil, from September 2000 to December 2001, employing diethylenetriamine penta-acetic acid labeled with technetium-99m (99mTc-DTPA) to evaluate the renal function of nineteen symptomatic patients infected with S. haematobium during a peace mission in Mozambique. Results evidenced that the most frequent clinical manifestations were hematuria (68.4%) and low back pain (68.4%) and 73.7% patients had altered dynamic renal scintigraphy expressed by an increase in the excretory phase independently of the symptoms duration; furthermore, none of them had mechanical obstructive pattern. Schistosoma haematobium glomerulopathy could be considered a pathological finding without... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Schistosomiasis; Schistosoma haematobium; Renal radionuclide imaging; Brazilian patients; 99mTc-DTPA. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1678-91992007000300010 |
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