中国X连锁视网膜色素变性家系RPGR新突变

目的 检测分析被诊断为X连锁视网膜色素变性（XLRP）的三个中国家系内的基因突变。设计 基因研究。研究对象 三个中国XLRP家系共27位受试者（其中18人为男性）。方法 由同一医生收集家系成员的详细临床资料并进行眼部检查，采集三个家系的先证者及有条件采血者的外周静脉血，提取基因组DNA。应用PCR技术扩增RPGR和RP2基因的全部外显子和内含子交界区序列，包括RPGR基因15号外显子开放阅读框，产物直接测序进行突变分析。主要指标 临床特征及基因测序结果。结果 基因筛查证实了两个RPGR基因的新型无义突变(c.1541C>G;p.S514X 和 c.2833G>T;p.E945X) 及一个错义突变(c.607G>C;p.A203P)。基因型-表型的相关性分析表明家系3患者在接近ORF15下游位置存在突变，这种突变导致视锥细胞功能的早期丧失。ORF15无义突变的女性携带者临床表型重，呈现出部分显性遗传的特点。结论 本研究证实了三种RPGR基因的新型突变，这一结果扩展了RPGR的突变谱及表型谱。     

解剖锁定钢板联合同种异体腓骨治疗肱骨近端骨折疗效的Meta分析

文题释义：肱骨近端骨折：肱骨近端包括肱骨头及大结节、小结节，中老年人骨质疏松及低能量损伤可导致肱骨近端骨折。 同种异体腓骨：取自于人体异体，经过加工处理，去除其免疫原性，保留其骨性结构，可用于移植修复骨缺损，起到支撑作用。 背景：肱骨近端骨折是临床常见骨折，但对肱骨近端内侧柱缺乏支撑的骨折目前仍是治疗难点，并发症常见，失败率较高。 目的：比较解剖锁定钢板联合同种异体腓骨与单纯解剖锁定钢板治疗肱骨近端骨折的疗效。 方法：使用计算机检索PubMed、Embase、Cochrane Library、Google Scholar、中国知网、万方、维普数据库，检索时间均从建库到2020年2月。检索国内外关于对比研究解剖锁定钢板联合同种异体腓骨与单纯解剖锁定钢板治疗肱骨近端骨折疗效的文献。2名研究员根据纳入和排除标准分别独立筛选文献，提取数据，评估文献中的偏倚风险。纳入12篇相关文献使用RevMan 5.2软件将以下指标进行Meta分析，包括影像学数据、功能评分和并发症。结果与结论：①通过文献检索、根据纳入和排除标准，12篇文献纳入研究，其中11篇为回顾性队列研究，1篇为随机对照研究；纳入研究文献质量高，但GRADE证据质量级别较低。②共纳入958例患者，其中解剖锁定钢板联合同种异体腓骨组411例，单纯解剖锁定钢板组547例；③Meta分析结果显示，解剖锁定钢板联合同种异体腓骨组术后1年肱骨头高度差值(MD=-2.40，95%CI：-2.49至-2.31)、颈干角差值(MD= -6.14，95%CI：-6.62至-5.67)、目测类比评分(MD=-0.22，95%CI：-0.35至-0.08)、肩关节功能评分(MD=4.12，95%CI：2.18-6.06)，上肢伤残评分(MD=-10.32，95%CI：-13.44至-7.19)、术后2年的目测类比评分(MD=-0.37，95%CI：-0.55至-0.19)、肩关节功能评分(MD=5.07，95%CI：2.86-7.27)、总体并发症(OR=0.31，95%CI：0.20-0.48)及肱骨头螺钉切出(OR=0.25，95%CI：0.11-0.55)均明显优于单纯解剖锁定钢板组(P < 0.05)，肱骨头坏死(OR=0.94，95%CI：0.47-1.88)，两组间差异无显著性意义(P > 0.05)；④因此，较弱的证据提示，肱骨近端解剖锁定钢板联合同种异体腓骨治疗肱骨近端骨折的短期疗效优于解剖锁定钢板，可减少并发症的发生，促进功能恢复。ORCID: 0000-0002-8486-3932(阳运康) 中国组织工程研究杂志出版内容重点：人工关节；骨植入物；脊柱；骨折；内固定；数字化骨科；组织工程     

Myeloid-derived suppressor cell (MDSC) key genes analysis in rat anti-CD28-induced immune tolerance kidney transplantation

BackgroundIn the field of transplantation, inducing immune tolerance in recipients is of great importance. Blocking co-stimulatory molecule using anti-CD28 antibody could induce tolerance in a rat kidney transplantation model. Myeloid-derived suppressor cells (MDSCs) reveals strong immune suppressive abilities in kidney transplantation. Here we analyzed key genes of MDSCs leading to transplant tolerance in this model.MethodsMicroarray data of rat gene expression profiles under accession number {"type":"entrez-geo","attrs":{"text":"GSE28545","term_id":"28545"}}GSE28545 in the Gene Expression Omnibus (GEO) database were analyzed. Running the LIMMA package in R language, the differentially expressed genes (DEGs) were found. Enrichment analysis of the DEGs was conducted in the Database for Annotation, Visualization and Integrated Discovery (DAVID) database to explore gene ontology (GO) annotation and their Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Their protein-protein interactions (PPIs) were provided by STRING database and was visualized in Cytoscape. Hub genes were carried out by CytoHubba.ResultsThree hundred and thirty-eight DEGs were exported, including 27 upregulated and 311 downregulated genes. The functions and KEGG pathways of the DEGs were assessed and the PPI network was constructed based on the string interactions of the DEGs. The network was visualized in Cytoscape; the entire PPI network consisted of 192 nodes and 469 edges. Zap70, Cdc42, Stat1, Stat4, Ccl5 and Cxcr3 were among the hub genes.ConclusionsThese key genes, corresponding proteins and their functions may provide valuable background for both basic and clinical research and could be the direction of future studies in immune tolerance, especially those examining immunocyte-induced tolerance.