Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese

UHRF1BP1 encodes a highly conserved protein with unknown function. Previously, a coding variant in this gene was found to be associated with systemic lupus erythematosus (SLE) in populations of European ancestry (rs11755393, R454Q, P=2.22 x 10??, odds ratio=1.17). In this study, by a combination of genome-wide study and replication involving a total of 1230 patients and 3144 controls, we confirmed the association of this coding variant to SLE in Hong Kong Chinese. We also identified another coding variant in this gene that independently contributes to SLE susceptibility (rs13205210, M1098T, P=4.44 x 10??, odds ratio=1.49). Cross-population confirmation establishes the involvement of this locus in SLE and indicates that distinct alleles are contributing to disease susceptibility.     

腔隙性脑梗塞患者脑内微出血的发生、分布及其意义

目的 探讨脑内微出血在腔隙性梗塞病人中的发生率及在脑内各区域的分布情况,以及与其他微小血管病变包括脑白质改变和腔隙性梗塞之间的关系。方法 连续入选腔隙性脑梗塞病人82例。记录一般临床资料、实验室检查及神经精神功能评分包括入院时的美国国立卫生研究院卒中评分(NIHSS)和发病三个月时的Barthel生活指数(BI)和简易精神状态量表(MMSE)。所有病人均进行头颅MR检查观察脑内微出血的数目及部位,脑白质改变的程度和腔隙性脑梗塞的数目及部位。数据处理均采用SPSS软件进行。结果 22例患者(27％)存在脑内微出血,数目由1～42个,分布于脑内不同部位包括皮层-皮层下、丘脑基底节区、小脑和脑干。微出血的数目与腔隙性梗塞的数目以及脑白质改变的程度显著相关(r=0.297,0.552;P=0.007,<0.001)。3个月时微出血组病人的MMSE和BI有低于无微出血组病人的趋势(22.56 vs 24.53,16.71 vs 19.11),但无统计学差异(P=0.162,0.052)。结论 脑内微出血在腔隙性脑梗塞中发生率较高,且与脑白质改变的严重程度以及腔隙性梗塞的数目相关。提示脑内微出血是另外一种微小血管病损的标志,可能代表着更为严重的小血管壁的损害,更为直接地提示出血倾向,在腔隙性脑梗塞的治疗及预防过程中应予以相应的重视。     

Understanding the role of tumor stem cells in glioblastoma multiforme: a review article

It has been hypothesized that cancer stem cells (CSC) may account for the pathogenesis underlying various tumors, including GBM. Markers of these CSCs can be potentially used as therapeutic targets. In this review, we discuss the most recent information regarding CSCs, their molecular biology and their potential role in GBM.