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Glioma is the most common malignant primary brain tumors with poor prognosis. Genome wide association studies (GWAS) of glioma in populations with Western European ancestry were completed in the US and UK. However, our previous results strongly suggest the genetic heterogeneity could be important in glioma risk. To systematically investigate glioma risk–associated variants in Chinese population, we performed a multistage GWAS of glioma in the Han Chinese population, with a total of 3,097 glioma cases and 4,362 controls. In addition to confirming two associations reported in other ancestry groups, this study identified one new risk-associated locus for glioma on chromosome 12p11.23 (rs10842893, pmeta = 2.33x10-12, STK38L) as well as a promising association at 15q15-21.1 (rs4774756, pmeta = 6.12x10-8, RAB27A) in 3,097 glioma cases and 4,362 controls. Our findings demonstrate two novel association between the glioma risk region marked by variant rs10842893 and rs4774756) and glioma risk. These findings may advance the understanding of genetic susceptibility to glioma.  相似文献   
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Introduction

Mosaic loss of chromosome Y (mLOY) is the most commonly detectable mosaic chromosomal event in cancers; however, its underlying relationship with tumorigenesis is still unclear.

Methods

We conducted a mendelian randomization study to systematically investigate the effect of mLOY on lung cancer based on a published genome-wide association study and inferred the causal relationship between mLOY and lung cancer. Kaplan-Meier and Cox regression analyses were used to evaluate the effect of mLOY on lung cancer prognosis.

Results

We discovered that genetically defined mLOY was a protective factor against lung cancer development in nonsmokers but not in smokers (lifelong nonsmokers: OR = 0.80, 95% confidence interval [CI]: 0.69–0.93, p = 4.03×10–3; smokers: OR = 0.96, 95% CI: 0.89–1.04, p =2.90 × 10–1, pHeterogeneity = 3.83 × 10–2). A U-shaped curve between the copy number level of chromosome Y and lung cancer risk was fitted (p for linearity Wald = 8.81 × 10–10) to support the idea that heavy mLOY caused by acquired damaging environmental factors may have effects on lung cancer that are different from those of genetically defined mLOY, whereas genetically predicted mLOY was linearly associated with a decreased lung cancer risk (p for linearity Wald = 0.15). In addition, increased genetically defined mLOY was also significantly associated with a better outcome of lung cancer (HR = 0.86, 95% CI: 0.75–0.98, p = 2.03 × 10–2).

Conclusions

In summary, we propose a "two-sides" model: “natural” mLOY reduces the risk and ensures a better prognosis of lung cancer, although the effect can be abolished by an aberrant loss of chromosome Y caused by environmental risk factors. Our results reveal a complex relationship between mLOY and lung cancer and provide important implications for the prevention of lung cancer.  相似文献   
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Background and aimsThere are concerns that energy drinks (EDs) are contributing to upward trends in overweight, obesity, and cardiometabolic conditions in young people. We investigated cross-sectional and prospective associations between frequency of ED-intake in young-adults and (i) body mass index (BMI) and (ii) Metabolic Syndrome (MetS) and its components.Methods and resultsParticipants from the Raine Study at 20-years (n = 1236) and 22 years (n = 1117) self-reported ED-intake, dietary intake, and physical activity, and had blood and anthropometric measures taken. Regression modelling examined associations between ED-intake and BMI, MetS and its components. There was a positive, but not significant, cross-sectional association with BMI and likelihood of MetS with frequent ED use at 20-years (BMI: β = 0.19; MetS: OR = 1.11) and 22-years (BMI: β = 0.51; MetS: OR = 1.28). There were no associations in the prospective analysis. After adjustment, significant associations existed between occasional ED-intake and lower HDL-cholesterol (β = −0.07) and higher fasting triglycerides (β = 0.16) at 20-years, and lower fasting triglycerides at 22-years (β = −0.10), but no significant associations in the prospective analyses.ConclusionNo significant associations existed between frequency of ED-intake, and BMI, MetS or its individual components over two years (ages 20–22 years). Future studies should include volume of EDs consumed and longer follow-up.  相似文献   
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中国肺癌筛查与早诊早治指南(2021,北京)   总被引:2,自引:0,他引:2  
肺癌是中国发病率和死亡率最高的恶性肿瘤。筛查与早诊早治是降低人群肺癌死亡率的有效措施。制定符合中国国情的肺癌筛查与早诊早治指南,将极大推进中国肺癌筛查的同质性和优质性,提高肺癌筛查的效果。指南受国家卫生健康委员会疾病预防控制局委托与指导,由国家癌症中心发起,联合多学科专家共同制定。指南整合近年来国内外在肺癌筛查与早诊早治方面的新进展,同时考虑中国国情和肺癌筛查的实际经验,根据世界卫生组织指南制定手册的原则和方法,针对肺癌筛查过程中的筛查人群、技术、流程等给出了详细的循证推荐,旨在规范肺癌筛查与早诊早治实践,提升中国肺癌防控效果。  相似文献   
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近年来,高通量组学技术迅速发展,人群队列与样本资源逐渐累积,互联网和信息技术飞速进步,大数据开发工具不断涌现,健康医疗大数据为流行病学研究提供了丰富的数据资源和广阔的科研平台。本文将分析大数据时代流行病学研究的机遇和挑战,展望未来学科的发展方向。流行病学应抓住机遇,开辟新方向、发展新方法,推动医学基础研究成果向公共卫生和临床实践的转化应用,实现"健康中国"的美好愿景。  相似文献   
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Cyasterone was demonstrated potential inhibition effect in mouse skin carcinoma cells in published report. However, the molecular mechanisms of the cyasterone on cells remain unknown. Herein, we investigated the effects of cyasterone-induced apoptosis in A549 and MGC823 cells in vitro. MTT assay showed that cyasterone caused a significantly decreasing of the proliferation of A549 and MGC823 cells in a time-and dose-dependent manner with IC50 values of 38.50 ± 3.73 μg/mL on A549 cells and 32.96 ± 1.24 μg/mL on MGC823 cells at 48 h, respectively. Hoechst staining and TUNEL staining results indicated the quintessential apoptosis features in immunofluorescence image. Apoptosis and cell cycle were determined by flow cytometry. Cyasterone treatment triggered inhibition of epidermal growth factor receptor- phosphatidylinositol 3 kinase/protein kinase B (EGFR-AKT) signaling pathways and activation of P38 pathways. Furthermore, cyasterone inhibited MGC823 cells xenografted tumor growth in vivo with few changes in body weights. In conclusion, our findings provide the evidence that cyasterone inhibits growth of A549 and MGC823 cells, via regulating EGFR signaling pathway. Our results indicated that cyasterone, a natural EGFR inhibitor, maybe a promising anti-cancer agent.  相似文献   
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