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Bittencourt,P.L.; Palácios,S.A.; Couto,C.A.; Cançado,E.L.R.; Carrilho,F.J.; Laudanna,A.A.; Kalil,J.; Gayotto,L.C.C.; Goldberg,A.C.. |
The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hemochromatosis; HFE mutations; Iron overload; HLA-A3 mutation; C282Y mutation; H63D mutation; Chromosome 6. |
Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000300007 |
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Leite,A.Z.A.; Sipahi,A.M.; Damião,A.O.M.C.; Garcez,A.T.; Buchpiguel,C.A.; Lopasso,F.P.; Lordello,M.L.L.; Agostinho,C.L.O.; Laudanna,A.A.. |
The pathogenesis of nonsteroidal anti-inflammatory drug (NSAID) enteropathy is a complex process involving the uncoupling of mitochondrial oxidative phosphorylation and inhibition of cyclooxygenase (COX). Rofecoxib, a selective inhibitor of COX-2, has shown less gastric damage, but the same beneficial effect is not clear in the case of the small bowel. Fifty-seven male Wistar rats (250-350 g) were divided into three groups (N = 19 each) to evaluate the effect of this NSAID on the rat intestine. The groups received 2.5 mg/kg rofecoxib, 7.5 mg/kg indomethacin or water with 5% DMSO (control) given as a single dose by gavage 24 h before the beginning of the experiment. A macroscopic score was used to quantify intestinal lesions and intestinal permeability was... |
Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Intestinal permeability; Enteropathy; Nonsteroidal anti-inflammatory drugs; Indomethacin; Rofecoxib; COX-2 inhibitor. |
Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000300007 |
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Mattar,R.; Alexandrino,A.M.; Laudanna,A.A.. |
The purpose of this study was to determine whether point mutations and loss of the p53 gene take place in ulcerative colitis which is histologically negative for dysplasia. DNA was extracted from 13 frozen rectal or colon biopsies and blood samples. Ulcerative colitis was classified histologically as active (10 cases) and inactive (3 cases). Exons 5-8 were amplified by PCR, treated with exonuclease and shrimp alkaline phosphatase and sequenced by the dideoxy chain termination method with the Sequenase Version 2.0 DNA sequencing kit. PCR products of intron 6 and exon 4 were digested with MspI and AccII, respectively, for RFLP analysis. No p53 gene mutation was detected in these cases. The number of informative patients for loss of heterozygosity (LOH) at... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: P53 gene; Ulcerative colitis; LOH; Mutation. |
Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000900005 |
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Werneck-Silva,A.L.; Sipahi,A.M.; Damião,A.O.M.C.; Buchpigue,C.A.; Iriya,K.; Laudanna,A.A.. |
The objective of the present study was to assess intestinal permeability in patients with infection caused by Strongyloides stercoralis. Twenty-six patients (16 women and 10 men), mean age 45.9, with a diagnosis of strongyloidiasis were evaluated. For comparison, 25 healthy volunteers (18 women and 7 men), mean age 44.9, without digestive disorders or intestinal parasites served as normal controls. Intestinal permeability was measured on the basis of urinary radioactivity levels during the 24 h following oral administration of chromium-labeled ethylenediaminetetraacetic acid (51Cr-EDTA) expressed as percentage of the ingested dose. The urinary excretion of 51Cr-EDTA was significantly reduced in patients with strongyloidiasis compared to controls (1.60 ±... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Intestinal permeability; 51Cr-EDTA; Strongyloidiasis; Small bowel. |
Ano: 2001 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000300009 |
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Deguti,M.M.; Sipahi,A.M.; Gayotto,L.C.C.; Palácios,S.A.; Bittencourt,P.L.; Goldberg,A.C.; Laudanna,A.A.; Carrilho,F.J.; Cançado,E.L.R.. |
The hypothesis of the role of iron overload associated with HFE gene mutations in the pathogenesis of nonalcoholic steatohepatitis (NASH) has been raised in recent years. In the present study, biochemical and histopathological evidence of iron overload and HFE mutations was investigated in NASH patients. Thirty-two NASH patients, 19 females (59%), average 49.2 years, 72% Caucasians, 12% Mulattoes and 12% Asians, were submitted to serum aminotransferase and iron profile determinations. Liver biopsies were analyzed for necroinflammatory activity, architectural damage and iron deposition. In 31 of the patients, C282Y and H63D mutations were tested by PCR-RFLP. Alanine aminotransferase levels were increased in 30 patients, 2.42 ± 1.12 times the upper normal... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fatty liver; Nonalcoholic steatohepatitis; Iron overload; HFE gene; Alanine aminotransferase. |
Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600009 |
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