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: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