LIS检验系统在临床应用中的优点

随着网络技术的飞速发展和普及，计算机技术和信息技术在医学领域的应用经历了三十多年的研究与发展，越来越多的计算机在医院得以广泛应用，这是医院实现科学化、现代化管理的必经之路。自从LIS（Laboratory Information System）检验系统在我院运行以来，深受广大护理人员的欢迎。利用LIS管理下的标本采集过程大大减少了护士的工作量，提高了工作质量，避免了各环节的人为差错，便于标本的管理，具有广阔的应用前景。     

无脑回畸形儿1例报告并文献复习

目的探讨无脑回畸形的临床特征及其致病基因LIS1基因的检测特点。方法回顾性分析1例无脑回畸形患儿的临床、实验室检查及基因检测结果,同时复习相关文献。结果女性,5月龄,确诊癫痫20 d,3 d内再次抽搐发作30余次入院,抽搐发作表现为双眼凝视、上翻,口唇、面色发绀,口吐白沫,四肢强直,意识丧失,约2~3 min自行缓解。外周血白细胞计数13.67×109/L,血红蛋白108 g/L,红细胞计数3.90×1012/L,淋巴细胞10.26×109/L;心肌酶谱、肝肾功能均正常;血氨23μmol/L,乳酸2.11 mmol/L;长程视频脑电图显示高度失律,频繁部分性发作,有时继发全身阵挛发作。头部MRI提示无脑回畸形。口服左乙拉西坦片,约27 mg/(kg·d),托吡酯片约6.5 mg/(kg·d),目前暂无发作。患儿LIS1基因检测发现c.232del G杂合突变,导致蛋白移码突变(p.E78Nfs X25);患儿父母均未见突变。结论无脑回畸形患儿可合并癫痫,可能由LIS1基因突变所致,该基因c.232del G位点突变在国内外未见报道。     

利用VCS集群软件保障医院信息系统安全运行

本文介绍了利用VCS集群软件重新构建SAN结构的新服务器、磁盘阵列的方法和实施步骤;利用VCS集群软件解决了数据库逻辑错误引起的系统运行异常故障,保证了医院信息系统的安全运行。     

基于HIS的健康体检信息系统的设计与应用

通过介绍HIS的应用现状,对健康体检系统开发的必要性和应用前景进行了描述.通过临床应用,总结了该系统的工作流程特点、开发技术、系统内容及应用情况和应用效果,对系统的改进和发展方向提出了具体要求.     

实验室信息管理系统在医院信息系统中的应用

本文扼要地介绍了LIS以及LIS工作流程,总结了我院LIS应用体会,建立LIS需注意解决的问题,以及LIS的成功实施,给检验科、患者、临床部门、医院等带来的诸多好处。     

Microtubule-based nuclear movement occurs independently of centrosome positioning in migrating neurons

During neuronal migration in the developing brain, it is thought that the centrosome precedes the nucleus and provides a cue for nuclear migration along the microtubules. In time-lapse imaging studies of radially migrating granule cells in mouse cerebellar slices, we observed that the movements of the nucleus and centrosome appeared to occur independently of each other. The nucleus often migrated ahead of the centrosome during its saltatory movement, negating the supposed role of the centrosome in pulling the nucleus. The nucleus was associated with dynamic microtubules enveloping the entire nucleus and stable microtubules extending from the leading process to the anterior part of the nucleus. Neither of these perinuclear microtubules converged at the centrosome. Disruption or excess formation of stable microtubules attenuated nuclear migration, indicating that the configuration of stable microtubules is crucial for nuclear migration. The inhibition of LIS1 function, a regulator of a microtubule motor dynein, specifically blocks nuclear migration without affecting the coupling of the centrosome and microtubules in the leading process, suggesting that movements of the nucleus and centrosome are differentially regulated by dynein motor function. Thus, the nucleus moves along the microtubules independently of the position of the centrosome in migrating neurons.     

LIS在门诊采血工作中的应用体会

随着HIS和LIS的日益普及和完善及条形码技术在检验医学中的日趋应用,LIS近几年在国内迅速发展起来。我院从2007年开始将"数字化"作为医院发展工作的重点,经过3年多的不懈努力,医院具备了网络运行环境,基本实现了无纸化。其中临     

检验信息系统应用于临床护理工作探讨

文章详述了实行检验信息系统（LIS）后护理工作流程的改变及为临床各方面工作带来的优点,同时指出护理工作中仍需注意的事项,并展望了LIS系统的发展前景。     

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)

Classical lissencephaly (LIS) and subcortical band heterotopia (SBH) are related cortical malformations secondary to abnormal migration of neurons during early brain development. Approximately 60% of patients with classical LIS, and one patient with atypical SBH have been found to have deletions or mutations of the LIS1 gene, located on 17p13.3. This gene encodes the LIS1 or PAFAH1B1 protein with a coiled‐coil domain at the N‐terminus and seven WD40 repeats at the C‐terminus. It is highly conserved between species and has been shown to interact with multiple proteins involved with cytoskeletal dynamics, playing a role in both cellular division and motility, as well as the regulation of brain levels of platelet activating factor. Here we report 65 large deletions of the LIS1 gene detected by FISH and 41 intragenic mutations, including four not previously reported, the majority of which have been found as a consequence of the investigation of 220 children with LIS or SBH by our group. All intragenic mutations are de novo, and there have been no familial recurrences. Eight‐eight percent (36/41) of the mutations result in a truncated or internally deleted protein—with missense mutations found in only 12% (5/41) thus far. Mutations occurred throughout the gene except for exon 7, with clustering of three of the five missense mutations in exon 6. Only five intragenic mutations were recurrent. In general, the most severe LIS phenotype was seen in patients with large deletions of 17p13.3, with milder phenotypes seen with intragenic mutations. Of these, the mildest phenotypes were seen in patients with missense mutations. Hum Mutat 19:4–15, 2002. © 2001 Wiley‐Liss, Inc.