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排序方式: 共有225条查询结果,搜索用时 15 毫秒
1.
Gregory D Kirk Paul C Turner Yunyun Gong Olufunmilayo A Lesi Maimuna Mendy James J Goedert Andrew J Hall Hilton Whittle Pierre Hainaut Ruggero Montesano Christopher P Wild 《Cancer epidemiology, biomarkers & prevention》2005,14(2):373-379
High rates of hepatocellular carcinoma (HCC) in The Gambia, West Africa, are primarily due to a high prevalence of chronic hepatitis B virus infection and heavy aflatoxin exposure via groundnut consumption. We investigated genetic polymorphisms in carcinogen-metabolizing (GSTM1, GSTT1, HYL1*2) and DNA repair (XRCC1) enzymes in a hospital-based case-control study. Incident HCC cases (n = 216) were compared with frequency-matched controls (n = 408) with no clinically apparent liver disease. Although the prevalence of variant genotypes was generally low, in multivariable analysis (adjusting for demographic factors, hepatitis B virus, hepatitis C virus, and TP53 status), the GSTM1-null genotype [odds ratio (OR), 2.45; 95% confidence interval (95% CI), 1.21-4.95] and the heterozygote XRCC1-399 AG genotype (OR, 3.18; 95% CI, 1.35-7.51) were significantly associated with HCC. A weak association of the HYL1*2 polymorphism with HCC was observed but did not reach statistical significance. GSTT1 was not associated with HCC. The risk for HCC with null GSTM1 was most prominent among those with the highest groundnut consumption (OR, 4.67; 95% CI, 1.45-15.1) and was not evident among those with less than the mean groundnut intake (OR, 0.64; 95% CI, 0.20-2.02). Among participants who had all three suspected aflatoxin-related high-risk genotypes [GSTM1 null, HLY1*2 (HY/HH), and XRCC1 (AG/GG)], a significant 15-fold increased risk of HCC was observed albeit with imprecise estimates (OR, 14.7; 95% CI, 1.27-169). Our findings suggest that genetic modulation of carcinogen metabolism and DNA repair can alter susceptibility to HCC and that these effects may be modified by environmental factors. 相似文献
2.
Aganna E Zeharia A Hitman GA Basel-Vanagaite L Allotey RA Booth DR Hawkins PN Thacker C Syndercombe-Court D McDermott MF 《Arthritis and rheumatism》2002,46(1):245-249
OBJECTIVE: To investigate genetic susceptibility to recurrent fevers, generalized severe myalgia, and migratory erythema in an Israeli Arab child with no family history of similar disease. METHODS: DNA sequencing of exons 1-6 of the TNFRSF1A gene (formerly TNFR1) was performed in the patient and his parents to determine the presence of the autosomal-dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus were used to genotype all available members of the patient's family. The TNFRSF1A gene was subsequently screened in 69 healthy Arab controls and 96 Caucasian controls. Formal forensic paternity testing was performed on the child. RESULTS: We found a de novo missense mutation in exon 3 of the TNFRSF1A gene, involving a novel C-->T transition encoding a Cys70Arg (C70R) variant, in the Israeli Arab patient. Eight of the common familial Mediterranean fever (FMF) gene MEFV mutations were excluded. This mutation was not present in the parents or siblings, or among the 69 healthy Arab controls. However, another TNFRSF1A variant, Pro46Lys (P46L), was present in 1 of the Arab controls. CONCLUSION: We have identified a TNFRSF1A mutation associated with periodic fever in an Arab patient, and a TNFRSF1A variant, which is variably pathogenic in Caucasians, in an Arab control. This is the first report of a de novo mutation in periodic fevers in general, and also of TRAPS in the Arab population. These findings demonstrate the need to include TRAPS in the differential diagnosis of recurrent fevers in this population. 相似文献
3.
E Omoyinmi R Hamaoui A Pesenacker K Nistala H Moncrieffe S Ursu LR Wedderburn P Woo 《Rheumatology (Oxford, England)》2012,51(10):1881-1886
Objective. The role of the adaptive immune system has not been explored in detail compared with the innate immune system in systemic JIA (sJIA) pathogenesis. The aim of this study was to examine the phenotype of circulating peripheral blood CD4(+) T-cell subpopulations in a cross-sectional study of sJIA patients during disease remission on medication and during acute flare of the disease. Methods. Flow cytometry was used to examine the phenotype and cytokine production of IFNγ-, IL-4- and IL-17-producing CD4(+) T cells in the peripheral blood of 10 sJIA patients with active disease, 9 sJIA with inactive disease, 14 JIA patients with oligoarticular onset, 10 adult control subjects and 10 age-matched control subjects. In parallel, we examined the proportion of FoxP3(+) Tregs. Results. IFNγ- and IL-17-producing CD4(+) T cells and IL-17-producing CD3(+)CD4(-) T cells were present at higher proportions in the peripheral blood of sJIA patients, irrespective of their disease status. Our data also confirm the known increase of the proportions of IFNγ-producing Th1 cells with increasing age and suggest an increase with age in the IL-17-producing CD4(+) T-cell population. Conclusion. This study is the first to describe significantly higher proportions of Th1 and Th17 T helper cell subsets in the peripheral blood of sJIA patients. These proinflammatory cells may play a pathogenic role in sJIA. Our data also emphasize the importance of using paediatric age-matched control subjects when evaluating the T-cell cytokine profile in JIA. 相似文献
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5.
Milogević I Sudjić V Bumbasirević V Lesić A Damjanović G Bumbasirević M 《Acta chirurgica Iugoslavica》2005,52(2):67-71
Although described as early as in 1882, the fracture of the metacarpal bone basis is still a therapeutic challenge for first orthopedic surgeons. Several non-operative and operative methods in the treatment of this fracture have been described. The goal of this paper is to analyze nonoperatively treated patients with Bennett's fracture. A group of 50 patients of both sexes, with the fracture of the first metacarpal bone basis fractures and with the average follow-up of 9 (6-13) years, has been analyzed. After an orthopedic reposition, immobilization lasting 5 weeks was applied, followed by a physical therapy in the duration of 4 to 8 weeks. Numerically, according to Steel, both the subjective and objective state of the hand, as well as an x-ray finding, were assessed. The total hand function was excellent and good in 42 patients, satisfactory in 8, and none of the patients had unsatisfactory function of the hand. Regardless of present degenerative changes, the function of the hand was good, especially if reposition with fragment dislocation less than 2 mm was achieved. 相似文献
6.
Tomić S Krajcinović O Lesić A Bumbasirević V Bumbasirević M 《Acta chirurgica Iugoslavica》2005,52(2):61-65
The autors report their experience in the treatment of the "critical ischemia" in 8 patients with arterial occlusion of the lower limbs in endarteritis obliterans. All patients were treated by thickening of the tibia using the Ilizarov apparatus for distraction osteosynthesis. In all cases the operative treatment ensured lowering of the amputation level, forming of the functional stump and long-lasting remission of the illness. 相似文献
7.
Bumbasirević M Lesić A Tomić S Milićević M Djukić V Ivancević N Mitković M Bumbasirević V Sudjić V 《Acta chirurgica Iugoslavica》2005,52(2):15-22
The article describes injuries of soft and bone structures of the shoulder region, with special emphasis on the following clinical forms: instabilities and luxations of the glenohumeral joint, fractures of the proximal humerus, clavicle and the states of painful shoulder. Fractures and dislocations, but also significant entities - painful states caused not only by fractures but also by minor trauma such as tendinitises and m.supraspinatus tendon and bicipital tendon ruptures are discussed in more detail. Moreover, their consequences - painful and stiff shoulder - as well as modern diagnostic and therapeutic procedures applied in the painful shoulder treatment are also discussed. 相似文献
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9.
Wingate LR Van Orden KA Joiner TE Williams FM Rudd MD 《Journal of consulting and clinical psychology》2005,73(4):756-762
The current study examined compensation and capitalization treatment models with specific reference to problem-solving appraisal and problem-solving treatment of suicidal behavior (M. D. Rudd, T. Joiner, & M. H. Rajab, 2000). A sample of 98 young adults (mean age = 22), who had recently attempted suicide or ideated about suicide to the degree that they came to clinical attention, were randomly assigned to either problem-solving or control treatment. Participants with poorer problem-solving appraisal at baseline responded better than did participants with greater problem-solving appraisal to problem-solving treatment at 6-month follow-up, as would be predicted by the compensation model. Results suggest that treatment of suicidality for individuals with problem-solving skill deficits may be most effective by targeting these deficits rather than capitalizing on strengths. 相似文献
10.