简介:摘要对南京医科大学附属儿童医院内分泌科2018年10月接诊的1例Weaver综合征患儿的临床资料进行回顾性分析。患儿,女,9岁2月龄,因"发现生长较快9年"就诊。患儿出生后发现生长较快,智力反应欠佳,言语不清,视物不清,脸型长,前额突,眼距宽,内眦赘皮,鼻梁塌陷,双手足有指垫,走路步态不协调,双足呈内"八"字。基因检测:EZH2基因15号外显子c.1720A>G(p.K574E)杂合变异,国内外尚未见报道,经Sanger测序验证,未检测到患儿父母携带该变异,由于该病系常染色体显性遗传,且患儿父母及胞哥均无相应症状,因此推断该突变为自发突变。结合患儿的特殊面容、临床表现及分子遗传学结果,诊断为Weaver综合征。
简介:AbstractThe LIM domain only 1 (LMO1) gene belongs to the LMO family of genes that encodes a group of transcriptional cofactors. This group of transcriptional cofactors regulates gene transcription by acting as a key "connector" or "scaffold" in transcription complexes. All LMOs, including LMO1, are important players in the process of tumorigenesis. Unique biological features of LMO1 distinct from other LMO members, such as its tissue-specific expression patterns, interacting proteins, and transcriptional targets, have been increasingly recognized. Studies indicated that LMO1 plays a critical oncogenic role in various types of cancers, including T-cell acute lymphoblastic leukemia, neuroblastoma, gastric cancer, lung cancer, and prostate cancer. The molecular mechanisms underlying such functions of LMO1 have also been investigated, but they are currently far from being fully elucidated. Here, we focus on reviewing the current findings on the role of LMO1 in tumorigenesis, the mechanisms of its oncogenic action, and the mechanisms that drive its aberrant activation in cancers. We also briefly review its roles in the development process and non-cancer diseases. Finally, we discuss the remaining questions and future investigations required for promoting the translation of laboratory findings to clinical applications, including cancer diagnosis and treatment.
简介:摘要:本文研究了一种高强度耐腐蚀钢筋的焊接方法,包括打磨待焊接钢筋端面以使端面平整,将待焊接的两根钢筋待焊接端放入压接器,根据钢筋直径进行预压调整两端面之间距离;对两根钢筋焊接端进行加热,在经过测温间隔时间后,温度传感器检测两根钢筋焊接端的温度;两根钢筋焊接端的温度达到压接要求后,压接器对两根钢筋待焊接端进行加压以使焊接端面粘合;在确认两钢筋的缝隙完全粘合后,改用中性焰加热,达到加压要求后对两根钢筋焊接端进行第三次加压,当接缝处出现满足连接要求形变后停止加热;运用风冷冷却接缝处直至温度降到安全范围。本文通过预设矩阵与计算方法确定压接过程中各设备运行状态,提升了焊接方法成功率。
简介:摘要:为应对电网企业领导人员日常考核针对性不强、结果运用不理想等问题,探索建立“3+3+1”领导人员日常考核机制,以求全面掌握领导人员日常“整体轮廓”,为领导人员选拔任用提供重要保证。
简介:摘要:目的:探讨细胞间粘附分子-1 (Intercellular adhesion molecule-1, ICAM-1)在胎盘粘连植入组织中的表达模式及其在侵入性胎盘发病机制中的作用。方法:采用酶联免疫吸附试验检测2018年6月至2019年6月期间我院20例产妇静脉血中可溶性ICAM-1(sICAM-1)的表达水平,根据sICAM-1的平均值将另外随机选取的200例产妇分为高、低表达组,计算两组侵入性胎盘发生率。采用免疫组化染色检测40例侵入性胎盘组织和40例正常胎盘组织中的ICAM-1表达。结果:sICAM-1高表达组的的侵入性胎盘发生率(5.26%)显著高于低表达组(0.62%)(χ2=4.497,p=0.034)。ICAM-1蛋白在侵入性胎盘组的阳性率(77.50%)显著高于对照组(32.50%)(Z =-4.214,p
简介:摘要:徐州早熟优质梨苏翠1号是一个新品种,由江苏省农业科学院果树研究所把华酥梨作为母本,翠冠梨作为父本杂交而成。 其梨垂直根相对来说比较发达粗壮,侧根部位相对来说比较少,整个根系有着比较强的再生能力,受到创伤之后很容易恢复,且长出全新根系,而且很容易出现根蘖,其经济寿命和树龄相对来说都比较长,有着多重价值,是特别优异的新品。结合这样的情况,本文重点分析徐州早熟优质梨苏翠1号拱棚架栽培要点等相关内容。