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Registros recuperados: 8
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Education, tobacco smoking, alcohol consumption, and IL-2 and IL-6 gene polymorphisms in the survival of head and neck cancer BJMBR
López,R.V.M.; Zago,M.A.; Eluf-Neto,J.; Curado,M.P.; Daudt,A.W.; da Silva-Junior,W.A.; Zanette,D.L.; Levi,J.E.; de Carvalho,M.B.; Kowalski,L.P.; Abrahão,M.; de Góis-Filho,J.F.; Boffetta,P.; Wünsch-Filho,V..
The association of education, tobacco smoking, alcohol consumption, and interleukin-2 (IL-2 +114 and -384) and -6 (IL-6 -174) DNA polymorphisms with head and neck squamous cell carcinoma (HNSCC) was investigated in a cohort study of 445 subjects. IL-2 and IL-6 genotypes were determined by real-time PCR. Cox regression was used to estimate hazard ratios (HR) and 95% confidence intervals (95%CI) of disease-specific survival according to anatomical sites of the head and neck. Mean age was 56 years and most patients were males (87.6%). Subjects with 5 or more years of schooling had better survival in larynx cancer. Smoking had no effect on HNSCC survival, but alcohol consumption had a statistically significant effect on larynx cancer. IL-2 gene +114 G/T (HR =...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Smoking; Alcohol; Interleukin; Head and neck cancer; Cancer prognosis; Survival analysis.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011001000005
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Epidemiological studies in the information and genomics era: experience of the Clinical Genome of Cancer Project in São Paulo, Brazil BJMBR
Wünsch-Filho,V.; Eluf-Neto,J.; Lotufo,P.A.; da Silva Jr.,W.A.; Zago,M.A..
Genomics is expanding the horizons of epidemiology, providing a new dimension for classical epidemiological studies and inspiring the development of large-scale multicenter studies with the statistical power necessary for the assessment of gene-gene and gene-environment interactions in cancer etiology and prognosis. This paper describes the methodology of the Clinical Genome of Cancer Project in São Paulo, Brazil (CGCP), which includes patients with nine types of tumors and controls. Three major epidemiological designs were used to reach specific objectives: cross-sectional studies to examine gene expression, case-control studies to evaluate etiological factors, and follow-up studies to analyze genetic profiles in prognosis. The clinical groups included...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Multicenter studies; Large-scale studies; Molecular epidemiology; Data control quality; Cancer epidemiological studies.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000400016
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Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3 BJMBR
Marques Jr.,W.; Davis,M.B.; Abou-Sleiman,P.M.; Marques,V.D.; Silva Jr.,W.A.; Zago,M.A.; Sobreira,C.S.; Barreira,A.A..
The spinal muscular atrophies (SMA) or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual manifestations, such as an abnormal sweating pattern, and gastrointestinal and sexual dysfunctions, suggesting concomitant involvement of the autonomic nervous system. We propose a new disease category for this disorder, `hereditary motor and autonomic neuronopathy', and attribute the term, `survival of motor and autonomic neurons 1' (SMAN1) to the respective locus that was mapped to a 14.5 cM region on...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Spinal muscular atrophy; Hereditary motor neuronopathies; Autonomic neuropathies.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001100022
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Urinary iron excretion induced by intravenous infusion of deferoxamine in ß-thalassemia homozygous patients BJMBR
Boturão-Neto,E.; Marcopito,L.F.; Zago,M.A..
The purpose of the present study was to identify noninvasive methods to evaluate the severity of iron overload in transfusion-dependent ß-thalassemia and the efficiency of intensive intravenous therapy as an additional tool for the treatment of iron-overloaded patients. Iron overload was evaluated for 26 ß-thalassemia homozygous patients, and 14 of them were submitted to intensive chelation therapy with high doses of intravenous deferoxamine (DF). Patients were classified into six groups of increasing clinical severity and were divided into compliant and non-compliant patients depending on their adherence to chronic chelation treatment. Several methods were used as indicators of iron overload. Total gain of transfusion iron, plasma ferritin, and urinary...
Tipo: Info:eu-repo/semantics/article Palavras-chave: SS-Thalassemia; Iron overload; Deferoxamine; Iron excretion.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002001100009
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miRNA expression profiles in chronic lymphocytic and acute lymphocytic leukemia BJMBR
Zanette,D.L.; Rivadavia,F.; Molfetta,G.A.; Barbuzano,F.G.; Proto-Siqueira,R.; Falcão,R.P.; Zago,M.A.; Silva-Jr,W.A..
MicroRNAs (miRNAs) are a class of small endogenous RNAs that play important regulatory roles by targeting mRNAs for cleavage or translational repression. miRNAs act in diverse biological processes including development, cell growth, apoptosis, and hematopoiesis, suggesting their association with cancer. We determined the miRNA expression profile of chronic and acute lymphocytic leukemias (CLL and ALL) using the TaqMan® MicroRNA Assays Human Panel (Applied Biosystems). Pooled leukemia samples were compared to pooled CD19+ samples from healthy individuals (calibrator) by the 2-DDCt method. Total RNA input was normalized based on the Ct values obtained for hsa-miR-30b. The five most highly expressed miRNAs were miR-128b, miR-204, miR-218, miR-331, and...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Non-coding RNA; MicroRNA; Hematopoietic malignancies; Leukemia; MiR-331.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007001100003
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The X-X-/E+E+ genotype of the XbaI/EcoRI polymorphisms of the apolipoprotein B gene as a marker of coronary artery disease in a Brazilian sample BJMBR
Scartezini,M.; Zago,M.A.; Chautard-Freire-Maia,E.A.; Pazin-Filho,A.; Marin-Neto,J.A.; Hotta,J.K.S.; Nascimento,A.J.; Dos-Santos,J.E..
Studies that consider polymorphisms within the apolipoprotein B (apo B) gene as risk factors for coronary artery disease (CAD) have reported conflicting results. The aim of the present study was to search for associations between two DNA RFLPs (XbaI and EcoRI) of the apo B gene and CAD diagnosed by angiography. In the present study we compared 116 Brazilian patients (92 men) with CAD (CAD+) to 78 control patients (26 men) without ischemia or arterial damage (CAD-). The allele frequencies at the XbaI (X) and EcoRI (E) sites did not differ between groups. The genotype distributions of CAD+ and CAD- patients were different (chi²(1) = 6.27, P = 0.012) when assigned to two classes (X-X-/E+E+ and the remaining XbaI/EcoRI genotypes). Multivariate logistic...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Apo B XbaI/EcoRI polymorphisms; Coronary artery disease; CAD risk.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000300012
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HFE gene mutations in coronary atherothrombotic disease BJMBR
Calado,R.T.; Franco,R.F.; Pazin-Filho,A.; Simões,M.V.; Marin-Neto,J.A.; Zago,M.A..
Although iron can catalyze the production of free radicals involved in LDL lipid peroxidation, the contribution of iron overload to atherosclerosis remains controversial. The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) related to hereditary hemochromatosis provides an opportunity to address the question of the association between iron overload and atherosclerosis. We investigated the prevalence of HFE mutations in 160 survivors of myocardial infarction with angiographically demonstrated severe coronary atherosclerotic disease, and in 160 age-, gender- and race-matched healthy control subjects. PCR amplification of genomic DNA followed by RsaI and BclI restriction enzyme digestion was used to determine the genotypes. The frequency...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hemochromatosis; HFE gene; Atherosclerosis; Myocardial infarction; Risk factor.
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000000300007
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The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil BJMBR
Alberto,F.L.; Figueiredo,M.S.; Zago,M.A.; Araújo,A.G.; Dos-Santos,J.E..
Familial hypercholesterolemia (FH) is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr) gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities of the LDLr gene, and the point mutation in the codon 3500 of the apolipoprotein B-100 gene. None of the 59 patients presented the apoB-3500 mutation, suggesting that familial defective ApoB-100 (FDB) is not a major cause of inherited hypercholesterolemia in Brazil. A novel 4-kb deletion in the LDLr gene, spanning from intron 12 to intron 14, was characterized in one...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Familial hypercholesterolemia; LDL receptor gene; Lebanese mutation; Haplotype analysis; ApoB-100 gene; Alu sequences.
Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000600009
Registros recuperados: 8
Primeira ... 1 ... Última
 

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