不同电子病历系统间的数据交换—通过HL7messages交换MML(Medical Markup Language)3.0医疗文档

MML(Medical Markup Language)，作为一套不同医疗信息系统之间的交换规格于1995年在日本被开发。1999年正式公布版本2．21，使用XML作为标记语言。之后随着大规模的实证实验，版本2．21被进一步修改，2001年升级为包含12个模块的版本2．3。而最新版本3．0是在HL7Clinical Document Architeeture(CDA)基础上开发而成，它将版本2．3的结构分割并重新定义，以便于用MML记述的信息能在HL7CDALevel One中表达。开发的结果表明，采用MML版本3．0形式记述的医疗文档可以通过HL7messages来进行信息交换。MML完整的规格及有关数据由日本非营利组织MedXML委员会公开和管理，具体可参照http：／／www．medxml.net／。目前，我们正在进行MML3．0的中国本地化作业，主要包括MML中所参照的表格的追加和修改以及医疗保险模块等的制作。     

电子病历系统与医务结算系统间的数据交换规格CLAIM(CLinical Accounting InforMation)汉化版的制作

CLinical Accounting InforMation(CLAIM)是日本开发的电子病历系统与医务结算系统间的数据交换规格。它使用eXtensible Markup Language(XML)作为标记语言,是不同医疗设施之间医疗数据交换规格Medical Markup Language(MML)的从属规格。CLAIM继承了MML2.x的基本结构,目前的版本2.1包括受理、预约、诊疗行为、结算金额等信息的两个模块和9个数据定义表格。考虑到中国现在还没有一个使用XML结构电子病历系统与医务结算系统之间信息的规格,鉴于CLAIM的柔韧性,我们制作了它的汉化版。由于日本的医务结算系统中采用"点数"制度,而中国的医院中没有此概念,另外,处方的书写形式等也与日本不同,所以我们重新制作了这两个模块,并相应的追加和修改了一些表格。CLAIM汉化版的制作将使中国医院的电子病历系统与医务结算系统之间有效而方便地进行数据交换成为可能。     

HL7之ORU消息的XML Schema构建

目的：建立HL7中ORU^R01消息的XML文档。同时，解决在创建XML Schema过程中出现的矛盾性问题，最终创建出一个有效的XML Schema模型。方法：本文对HL7中定义的检验信息的构建进行了深入的研究，同时以其中应用极为广泛的ORU^R01消息为例，将遵循HL7标准的信息转化为XML格式，建立了XML文档，同时，通过刘创建XML Schema过程中出现的矛盾性问题的产生机制进行深入剖析．最终解决了这一问题．并巧妙的利用组合结构最终创建了一个有效的XML Schema模型。结果和结论：HL7作为成熟且具备国际共识的医疗信息传递标准越来越受到医学界的重视，它规范了临床医学和管理信息的传输格式，极大的提高了医院信息系统之间数据信息共享的程度。XML则是INTERNET上数据交换的公认标准。将遵循HL7标准的信息转化为XML格式将极大的发挥以上两个标准的优势，同时让不同系统间的信息交换变得更加容易     

基于虚拟网络计算(VNC)协议的远程医疗绘制

远程医疗由于其广阔的发展前景 ,得到了广泛的应用与关注。远程实时绘制 ,作为远程医疗中的一个重要环节 ,对于实时诊断具有重要意义。我们采用VNC网络模型 ,在实验网络上对医学模型数据进行了绘制实验。结果表明 ,基于VNC网络协议的远程绘制 ,可以满足在一定条件下的远程医疗三维模型的实时绘制的要求 ,对于远程医疗 ,是一个有益的尝试     

一种N端缺失的rhGM-CSF(7～127)在大肠杆菌中的表达与调控

在ｈＧＭ－ＣＳＦ结构与功能研究的基础之上，通过应用ＰＣＲ介导的缺失与突变和基因重组等技术，构建了表达ｒｈＧＭ－ＣＳＦ（７～１２７）的三种原核表达载体ｐＢＶ２２０／ＧＭ－ＴＧＡ，ｐＢＶ２２０／ＧＭ－ＴＡＡ和ｐＢＶ２２０／ＧＭ－３′ＵＴＲ。在三种载体内，ｈＧＭ－ＣＳＦ（７～１２７）ｃＤＮＡ的５′端均缺失６个氨基酸，３′端则分别为天然终止密码ＴＧＡ，突变终止密码ＴＡＡ和ＴＧＡ加３′ＵＴＲ。ＳＤＳ－ＰＡＧＥ表明三种载体表达ｒｈＧＭ－ＣＳＦ（７～１２７）的水平分别为２１％，１８．８％和２５％。经过用ＰＣｇｅｎｅ软件和Ｚｕｌｃｅｒ算法分析ｈＧＭ－ＣＳＦ（７～１２７）－３′ＵＴＲｍＲＮＡ的二级结构，表明３′ＵＴＲ在终止密码ＴＧＡ附近形成两个茎－环结构，它可能与ｐＢＶ２２０／ＧＭ－３′ＵＴＲ载体高表达ｒｈＧＭ－ＣＳＦ（７～１２７）有关。表达产物ｒｈＧＭ－ＣＳＦ（７～１２７）经弱阴离子ＤＥＡＥ交换层析纯化后，纯度达到９２％，比活性为８×１０７Ｕ／ｍｇ。     

Wilson病双(多)胞胎家系的临床和基因突变研究

目的 观察双(多)胞胎Wilson病家系的临床和基因突变特点.方法 收集双(多)胞胎Wilson病家系的临床资料,留取其全血标本,提取基因组DNA,应用短串联重复(short tandem repeats,STR)分型判定双胞胎是否为同卵双生,用DNA测序法检测ATP7B基因各外显子的突变.结果 5个双胞胎家系的患者均符合Wilson病的诊断标准.STR分型提示4个家系为同卵双生,1个家系为异卵双生.3个双胞胎家系的患者均以肝症状起病,另外2个家系的患者以脑症状起病.在4个家系的患者中检出ATP7B基因的突变,均位于第8和(或)第13外显子,其中1个家系的患者同时携带第8外显子p.R778W杂合突变和第13外显子p.P992L纯合突变,其父母分别为p.R778W杂合突变和p.P992L杂合突变的携带者,因此该家系的患者发生了杂合丢失现象.有1个家系的2例患者及其父母亲各外显子均未检出突变.1个三胞胎家系中的1名女性成员为脑症状起病的Wilson病患者,1名男性为无症状的亚临床型Wilson病患者,另1例女性成员未患病,这3位成员及其母亲均检出第13外显子p.P992L杂合突变.结论 本研究结果进一步证实了遗传因素在Wilson病发病中的主要作用.杂合丢失现象是除点突变外Wilson病的另一种发病机制.     

白细胞介素7(IL-7)选择性剪接变异体的筛选和序列测定

目的：寻找人肿瘤细胞选择性的白细胞介素7（Interleukin-7）剪接变异体。方法：运用自行设计的IL-7引物，采用逆转录聚合酶链反应（RT-PCR）技术，分离正常肝组织、原发肝癌组织、正常胃组织和胃癌组织IL-7mRNA，再对电泳所获条带进行克隆、测序。结果：正常肝组织、原发肝癌组织、正常胃组织和胃癌组织都能检测到IL-7mRNA，而且从肝癌组织、胃癌组织中各分离出一条新带，经亚克隆及测序，证实这两条带分别是人IL-7基因eDNA第四外显子（肝癌组织）和第五外显子（胃癌组织）缺乏所致。结论：肝癌组织和胃癌组织存在不同选择性IL-7剪接变异体。这些变异体的发现，为肿瘤病人的免疫调节紊乱以及肿瘤病人的临床免疫治疗提供了新的研究方向。     

ACE2-Ang(1-7)-Mas轴的生物学功能及其下游信号通路

ACE2-Ang(1-7)-Mas轴具有拮抗ACE-AngⅡ-AT1R经典轴的作用,参与体内众多的生理反应.在循环、泌尿和消化等系统及炎性反应中发挥着重要的保护作用.ACE2-Ang(1-7)-Mas轴功能的发挥与其信号通路密切相关.探讨此调节轴的生物学功能及其信号传导通路将为相关疾病的治疗提供新的思路.     

Ang-(1-7)与肺高压状态下肺血管平滑肌细胞的增生

背景：Ang-(1-7)虽然具有抗血管平滑肌细胞增殖作用,但在不同的血管床中其作用可能存在差异。直接给予外源性Ang-(1-7)是否可抑制肺动脉高压大鼠肺血管平滑肌细胞的增殖尚不清楚。 目的：探讨Ang-(1-7)对野百合碱诱导的肺动脉高压大鼠肺血管平滑肌细胞增殖的影响。 方法：雄性SD大鼠颈部一次性注射60 mg/kg野百合碱制备肺动脉高压模型。24 h后,分别经微泵持续泵入Ang-(1-7)(治疗组)或生理盐水(模型组),并设立未造模的对照组。给药2,4周,测定大鼠的右心室收缩压、心室质量、肺小动脉管壁厚度占管径的百分比及管壁面积占血管总面积的百分比。免疫组织化学方法检测肺血管平滑肌细胞α-平滑肌肌动蛋白及增殖细胞核抗原的表达。 结果与结论：野百合碱诱导2周,与对照组比较,模型组大鼠右心室收缩压、各心室的质量无明显变化,肺小动脉管壁厚度占管径的百分比、管壁面积占血管总面积的百分比、增殖细胞核抗原阳性率显著增高,α-平滑肌肌动蛋白显著降低;野百合碱诱导4周,模型组大鼠右心室收缩压、各心室的质量、肺小动脉管壁厚度占管径的百分比、管壁面积占血管总面积的百分比、增殖细胞核抗原阳性率均显著增高,α-平滑肌肌动蛋白显著降低。而治疗组上述指标与对照组比较差异无显著性意义   (P > 0.05)。说明在野百合碱诱导的肺动脉高压模型中,在肺动脉压增高之前已有肺血管形态学的变化,Ang-(1-7)可通过减轻肺血管平滑肌细胞的增生抑制大鼠肺动脉压的升高。     

韦克斯勒记忆量表第四版中文版(成人版)的修订

目的:修订韦克斯勒记忆量表第四版(WMS-IV)中文版(成人版),并考察其效度和信度。方法:将全国16岁以上人口作为取样总体,以年龄、性别、教育程度为主要变量按比例分层取样,选取16~69岁有效样本1561人,应用WMS-IV中文版(成人版)对样本进行个别记忆测验。该量表包括5个基本分量表(逻辑记忆、词语配对、图形重置、视觉再现、空间叠加),用于导出5个指数分;还包含1个简明认知状况测验的可选分量表。同时施测韦氏成人智力量表第四版(WAIS-IV)中文版来检验效标效度。选取样本中95名被试间隔22天后重测WMS-IV中文版(成人版)。结果:验证性因子分析表明量表的二因素结构拟合较好(χ2/df=14.77/4,RM SEA=0.04,NFI=0.99,NNFI=0.99,RFI=0.99,AGFI=0.99,SRM R=0.02);各指数分与WAIS-IV中文版工作记忆指数的相关系数为0.50~0.64,各指数分及总记忆商与总智商的相关系数为0.61~0.73(均P<0.05)。各分量表得分、过程分、指数分及总记忆商的平均信度系数分别为0.79~0.93、0.67~0.86、0.93~0.97;分量表得分、指数分及总记忆商的重测信度分别为0.40~0.69、0.68~0.76、0.78;各再认分量表分类判定的一致性系数均>0.90;评分者一致性>0.95。结论:WM S-IV中文版(成人版)具有良好的效度和信度,可以在中国成人群体中进行应用。     

简明儿童少年国际神经精神访谈儿童版的信效度

目的:评价适用于简明儿童少年国际神经精神访谈(Mini International Neuropsychiatric Interview for children and adolescents,MINI Kid)儿童版的信度和效度。方法:以北京大学第六医院门诊和病房患儿、某小学学生、某寄宿学校初中学生、四川地震后移居日照的儿童青少年共392人为研究对象,同时以学龄儿童情感障碍和精神分裂症问卷(The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version,K-SADS-PL)为诊断的金标准;由评定者盲法评定,评价MINIKid量表效度、重测信度和内部一致性信度。结果:量表的评定者间一致性Kappa值均在0.80以上,重测信度0.90。以K-SADS-PL为诊断金标准,对MINI Kid儿童版进行效度检验显示,诊断灵敏度分别为注意缺陷多动障碍(32.0%)、对立违抗障碍(30.9%)、品行障碍(78.6%)、儿童情感障碍及情绪问题(66.3%)、抽动障碍(58.5%)、精神病性障碍(93.6%)、创伤后应激障碍(79.2%);诊断特异度分别为注意缺陷多动障碍(95.8%)、对立违抗障碍(94.5%)、品行障碍(94.5%)、儿童情感障碍及情绪问题(66.8%)、抽动障碍(98.8%)、精神病性障碍(98.6%)、创伤后应激障碍(92.7%)。对全部完成儿童版和父母版的319名儿童的两个版本结果进行并联诊断,显示诊断灵敏度分别为注意缺陷多动障碍(86.5%)、对立违抗障碍(83.5%)、品行障碍(92.9%)、儿童情感障碍及情绪问题(73.7%)、抽动障碍(73.6%)、精神病性障碍(97.9%);诊断特异度分别为注意缺陷多动障碍(95.9%)、对立违抗障碍(88.8%)、品行障碍(91.1%)、儿童情感障碍及情绪问题(66.7%)、抽动障碍(98.5%)、精神病性障碍(98.5%)。结论:除儿童情感障碍及情绪问题外,简明儿童少年国际神经精神访谈儿童版单独使用有很高的特异度,但灵敏度偏低,建议与父母版并联使用,以提高灵敏度。     

Microbiological Common Language (MCL): a standard for electronic information exchange in the Microbial Commons

Although Biological Resource Centers (BRCs) traditionally have open catalogs of their holdings, it is quite cumbersome to access meta-information about microorganisms electronically due to the variety of access methods used by those catalogs. Therefore, we propose Microbiological Common Language (MCL), aimed at standardizing the electronic exchange of meta-information about microorganisms. Its application ranges from representing the online catalog of a single collection to accessing the results of StrainInfo integration and ad hoc use in other contexts. The abstract model of the standard precisely defines the elements of the standard, which enables implementation using a variety of representation technologies. Currently, XML and RDF/XML implementations are readily available. MCL is an open standard, and therefore greatly encourages input from the microbiological community.     

Reconciling disparate information in continuity of care documents: Piloting a system to consolidate structured clinical documents

BackgroundDue to the nature of information generation in health care, clinical documents contain duplicate and sometimes conflicting information. Recent implementation of Health Information Exchange (HIE) mechanisms in which clinical summary documents are exchanged among disparate health care organizations can proliferate duplicate and conflicting information.Materials and methodsTo reduce information overload, a system to automatically consolidate information across multiple clinical summary documents was developed for an HIE network. The system receives any number of Continuity of Care Documents (CCDs) and outputs a single, consolidated record. To test the system, a randomly sampled corpus of 522 CCDs representing 50 unique patients was extracted from a large HIE network. The automated methods were compared to manual consolidation of information for three key sections of the CCD: problems, allergies, and medications.ResultsManual consolidation of 11,631 entries was completed in approximately 150 h. The same data were automatically consolidated in 3.3 min. The system successfully consolidated 99.1% of problems, 87.0% of allergies, and 91.7% of medications. Almost all of the inaccuracies were caused by issues involving the use of standardized terminologies within the documents to represent individual information entries.ConclusionThis study represents a novel, tested tool for de-duplication and consolidation of CDA documents, which is a major step toward improving information access and the interoperability among information systems. While more work is necessary, automated systems like the one evaluated in this study will be necessary to meet the informatics needs of providers and health systems in the future.     

Depth‐resolved surface coil MRS (DRESS)‐localized dynamic 31P‐MRS of the exercising human gastrocnemius muscle at 7 T

Dynamic ³¹P‐MRS with sufficiently high temporal resolution enables the non‐invasive evaluation of oxidative muscle metabolism through the measurement of phosphocreatine (PCr) recovery after exercise. Recently, single‐voxel localized ³¹P‐MRS was compared with surface coil localization in a dynamic fashion, and was shown to provide higher anatomical and physiological specificity. However, the relatively long TE needed for the single‐voxel localization scheme with adiabatic pulses limits the quantification of J‐coupled spin systems [e.g. adenosine triphosphate (ATP)]. Therefore, the aim of this study was to evaluate depth‐resolved surface coil MRS (DRESS) as an alternative localization method capable of free induction decay (FID) acquisition for dynamic ³¹P‐MRS at 7 T. The localization performance of the DRESS sequence was tested in a phantom. Subsequently, two dynamic examinations of plantar flexions at 25% of maximum voluntary contraction were conducted in 10 volunteers, one examination with and one without spatial localization. The DRESS slab was positioned obliquely over the gastrocnemius medialis muscle, avoiding other calf muscles. Under the same load, significant differences in PCr signal drop (31.2 ± 16.0% versus 43.3 ± 23.4%), end exercise pH (7.06 ± 0.02 versus 6.96 ± 0.11), initial recovery rate (0.24 ± 0.13 mm /s versus 0.35 ± 0.18 mm /s) and maximum oxidative flux (0.41 ± 0.14 mm /s versus 0.54 ± 0.16 mm /s) were found between the non‐localized and DRESS‐localized data, respectively. Splitting of the inorganic phosphate (Pi) signal was observed in several non‐localized datasets, but in none of the DRESS‐localized datasets. Our results suggest that the application of the DRESS localization scheme yielded good spatial selection, and provided muscle‐specific insight into oxidative metabolism, even at a relatively low exercise load. In addition, the non‐echo‐based FID acquisition allowed for reliable detection of ATP resonances, and therefore calculation of the specific maximum oxidative flux, in the gastrocnemius medialis using standard assumptions about resting ATP concentration in skeletal muscle. Copyright © 2014 John Wiley & Sons, Ltd.     

Localization of EFA6 (exchange factor for ARF6) isoform D in steroidogenic testicular Leydig cells of adult mice

EFA6 (exchange factor for ARF6) activates Arf6 (ADP ribosylation factor 6) by exchanging ADP to ATP and the resulting activated form of Arf6 is involved in the membrane trafficking and actin remodeling of cells. Our previous study has shown the selective expression/localization of EFA6D in steroidogenic adrenocortical cells in situ of adult mice. In view of the previous finding, the present study was undertaken to examine its localization in mouse Leydig cells representing another steroidogenic cell species in order to further support the possible involvement of the EFA6/Arf6 cascade via membrane trafficking in the regulation of steroidogenesis and/or secretion. A distinct band for EFA6D with the same size as that of the brain was detected in the testis of adult mice. In immuno-light microscopy, immunoreactivity for EFA6D was seen throughout the cytoplasm in most Leydig cells without any distinct accumulation along the plasmalemma. Lack of immunoreactivity for EFA6D was seen in the seminiferous tubular epithelium. In immuno-electron microscopy, the immune-labeling was seen in sporadic/focal patterns on plasma membranes and some vesicles and vacuoles subjacent to the plasma membranes. More constant and rather predominant is the labeling on numerous mitochondria. No immuno-labeling was seen in lipid droplets. The present study suggests that EFA6D is somehow involved in regulation of the synthesis and/or secretion of testosterone through the membrane-traffic by activation of Arf6. In addition, EFA6D is suggested to play in mitochondria some yet unidentified roles rather independent of Arf6-activation, which remains to be elucidated.