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基于中国人Lynch综合征临床标准的家族性结直肠癌胚系突变谱多中心研究
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作者 杨梦园 朱丽珍 +7 位作者 张鼎 吴斌 顾艳宏 吴涛 张敬东 邱萌 潘杰 袁瑛 《中国肿瘤临床》 CAS CSCD 北大核心 2022年第23期1215-1223,共9页
目的:Lynch综合征作为一种常染色体显性遗传的恶性肿瘤综合征,基于肿瘤家族史对患者进行初筛是目前Lynch综合征筛查的主要手段。本研究旨在明确符合中国人Lynch综合征临床标准的结直肠癌患者最终确诊为Lynch综合征的比例,以及二代测序在... 目的:Lynch综合征作为一种常染色体显性遗传的恶性肿瘤综合征,基于肿瘤家族史对患者进行初筛是目前Lynch综合征筛查的主要手段。本研究旨在明确符合中国人Lynch综合征临床标准的结直肠癌患者最终确诊为Lynch综合征的比例,以及二代测序在Lynch综合征临床诊断中的应用。方法:2017年2月至2019年10月纳入85例就诊于国内7家医院(浙江大学医学院附属第二医院、北京协和医院、江苏省人民医院、北京大学第一医院、辽宁省肿瘤医院、四川大学华西医院和温州市中心医院)无血缘关系的符合中国人Lynch综合征临床标准的结直肠癌患者,利用含61个已报道与遗传性肿瘤相关基因的二代测序平台检测入组先证者的胚系突变。对于检出的临床意义不明的基因变异,通过一代测序、多重荧光PCR毛细管电泳检测肿瘤组织微卫星状态等手段判读该变异的致病意义。结果:符合中国人Lynch综合征临床标准的结直肠癌患者中,28.2%检测出Lynch综合征关键基因已知致病性或疑似致病性胚系突变,另外15.3%患者携带上述基因的临床意义不明的变异。通过对这些变异进行分析,本研究认为MLH1基因c.2240_2255 delCTGATCTATACAAAGT通读突变为遗传性结直肠癌的致病性突变;然而目前尚缺乏充足证据证明MLH3基因第2~11号外显子大片段重复与遗传性结直肠癌的发生存在密切联系。结论:本研究发现同样基于符合中国人Lynch综合征临床标准的结直肠癌患者,与既往利用一代测序的研究报道相比,二代测序并未提高Lynch综合征的确诊率。但是,二代测序会带来大量临床意义不明的突变。需要谨慎对待尚未明确的基因突变检测结果,必要时应该进行更深入的家系研究和更全面的分子检测以明确这些突变的致病意义。 展开更多
关键词 LYNCH综合征 MLH1基因 通读突变 二代测序
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Progress of anti-checkpoint therapy in metastatic colorectal cancer
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作者 lizhen zhu Xuefeng Fang +1 位作者 Chenhan Zhong Ying Yuan 《Oncology and Translational Medicine》 2016年第4期143-144,共2页
In the immune system,antigen-presenting cells,especially dendritic cells,process tumor antigens and present them to anti-tumor CD8+ cytotoxic T cells and CD4+ helper T cells,thereby promoting the proliferation and act... In the immune system,antigen-presenting cells,especially dendritic cells,process tumor antigens and present them to anti-tumor CD8+ cytotoxic T cells and CD4+ helper T cells,thereby promoting the proliferation and activity of these cells to kill tumor cells. 展开更多
关键词 结直肠癌 检查点 转移性 抗原提呈细胞 治疗 树突状细胞 免疫系统 肿瘤抗原
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A 7-year-old girl with giant congenital biliary dilatation
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作者 Xiaolei Xu Cancan Gao +2 位作者 lizhen zhu Xiaobin Feng Haining Fan 《Hepatobiliary Surgery and Nutrition》 SCIE 2023年第2期298-299,共2页
A 7-year-old girl presented to our out-patient clinic with complaints of abdominal mass and pain with yellowish skin for over 3 months.The patient was also accompanied by clinical manifestations such as nausea and vom... A 7-year-old girl presented to our out-patient clinic with complaints of abdominal mass and pain with yellowish skin for over 3 months.The patient was also accompanied by clinical manifestations such as nausea and vomiting,skin itching and clay-colored stools.She denied any past history of gastrointestinal bleeding or trauma.Examination revealed a non-tender swelling as it moved with breathing(Panel A). 展开更多
关键词 CONGENITAL NAUSEA VOMITING
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Identification and selection of resistance to Bemisia tabaci among 550 cotton genotypes in the field and greenhouse experiments 被引量:1
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作者 lizhen zhu Jianying LI +6 位作者 Zhongping XU Hakim MANGHWAR Sijia LIANG Suli LI Muna ALARIQI Shuangxia JIN Xianlong ZHANG 《Frontiers of Agricultural Science and Engineering》 2018年第2期236-252,共17页
Plants have developed sophisticated systems to cope with herbivore challenge, including morphological barriers and secondary metabolites to reduce damage. In this study, 550 Gossypium genotypes were evaluated for whit... Plants have developed sophisticated systems to cope with herbivore challenge, including morphological barriers and secondary metabolites to reduce damage. In this study, 550 Gossypium genotypes were evaluated for whitefly(Bemisia tabaci) resistance in five experiments including two in the field and three in the greenhouse, with23 resistant and 19 susceptible genotypes selected.Whitefly-resistance index determination showed that a leaf having a high density of hairs had resistance to whitfly egg/nymph production. Longer leaf hairs were also important for resistance. This study revealed that okra shaped leaves reduced adult whitefly oviposition preference, while glabrous leaves and high hair density helped not only in the reduction of the adults but also decreased oviposition preference. Gossypol was also observed to be involved in the reduction of adult whitefly development and/or survival. 展开更多
关键词 Bemisia tabaci Gossypium genotypes GOSSYPOL leaf hair density leaf hair length
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