New Standards and Enhanced Utility for Family Health History Information in the Electronic Health Record: An Update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup

Family health history is a complex, multifaceted tool for assessing disease risk that can offer insight into the interplay between inherited and social factors relevant to patient care. Family health history tools in electronic health records can enable the user to collect, represent, and interpret structured data that properly supports clinical decisions. If these data can be made interoperable, important health information can be shared with minimal duplication of effort among entities involved in the continuum of patient care. This paper reviews the efforts by the American Health Information Community''s Family Health History Multi-Stakeholder Workgroup to create a core data set for family health history information and to determine requirements to promote incorporation of such information in electronic health records. The Workgroup is a component of the U.S. Department of Health and Human Services'' Personalized Health Care Initiative.     

基于CDA的临床数据中心文档构建及XDS共享模式研究

临床文档共享是整合医院内部异构系统、构建临床数据中心和实现信息集成的重要手段。结合HL7 CDA文档架构和国家相关数据标准以及规范,对临床文档的结构和语义进行标准化和本地化定义,支持异构系统之间临床文档的互操作,并基于1HEXDS文档共享模式进一步实现跨系统临床文档交互,提高临床质量。最后对结构化临床文档的数据可用性以及科研检索、数据安全性和保密性等进行初步讨论。     

Analysis of the process of representing clinical statements for decision-support applications: a comparison of openEHR archetypes and HL7 virtual medical record

Delivering patient-specific decision-support based on computer-interpretable guidelines (CIGs) requires mapping CIG clinical statements (data items, clinical recommendations) into patients’ data. This is most effectively done via intermediate data schemas, which enable querying the data according to the semantics of a shared standard intermediate schema. This study aims to evaluate the use of HL7 virtual medical record (vMR) and openEHR archetypes as intermediate schemas for capturing clinical statements from CIGs that are mappable to electronic health records (EHRs) containing patient data and patient-specific recommendations. Using qualitative research methods, we analyzed the encoding of ten representative clinical statements taken from two CIGs used in real decision-support systems into two health information models (openEHR archetypes and HL7 vMR instances) by four experienced informaticians. Discussion among the modelers about each case study example greatly increased our understanding of the capabilities of these standards, which we share in this educational paper. Differing in content and structure, the openEHR archetypes were found to contain a greater level of representational detail and structure while the vMR representations took fewer steps to complete. The use of openEHR in the encoding of CIG clinical statements could potentially facilitate applications other than decision-support, including intelligent data analysis and integration of additional properties of data items from existing EHRs. On the other hand, due to their smaller size and fewer details, the use of vMR potentially supports quicker mapping of EHR data into clinical statements.     

HL7 Clinical Document Architecture,Release 2

Clinical Document Architecture, Release One (CDA R1), became an American National Standards Institute (ANSI)–approved HL7 Standard in November 2000, representing the first specification derived from the Health Level 7 (HL7) Reference Information Model (RIM). CDA, Release Two (CDA R2), became an ANSI-approved HL7 Standard in May 2005 and is the subject of this article, where the focus is primarily on how the standard has evolved since CDA R1, particularly in the area of semantic representation of clinical events. CDA is a document markup standard that specifies the structure and semantics of a clinical document (such as a discharge summary or progress note) for the purpose of exchange. A CDA document is a defined and complete information object that can include text, images, sounds, and other multimedia content. It can be transferred within a message and can exist independently, outside the transferring message. CDA documents are encoded in Extensible Markup Language (XML), and they derive their machine processable meaning from the RIM, coupled with terminology. The CDA R2 model is richly expressive, enabling the formal representation of clinical statements (such as observations, medication administrations, and adverse events) such that they can be interpreted and acted upon by a computer. On the other hand, CDA R2 offers a low bar for adoption, providing a mechanism for simply wrapping a non-XML document with the CDA header or for creating a document with a structured header and sections containing only narrative content. The intent is to facilitate widespread adoption, while providing a mechanism for incremental semantic interoperability.     

Importance of family history in type 2 black South African diabetic patients

OBJECTIVE—To assess the family history of diabetes in type 2 black South African diabetics with emphasis on the parental phenotype.DESIGN—Prospective case-control study in which family histories were obtained from patients.SETTING—Diabetic clinic of a provincial teaching hospital in the Transkei region of South Africa.SUBJECTS—A total of 1111 type 2 diabetics attending the diabetic clinic and 687 controls.MAIN OUTCOME MEASURES—History of diabetes in parents, siblings, maternal and paternal grandparents, aunts, and uncles.RESULTS—Altogether 27.3% of diabetic subjects had a family history of diabetes compared with 8.4% in the control group (p<0.01). Among the group with positive family history 82.6% reported only one diabetic family member, while 17.4% reported at least two relatives; 6.6% had a diabetic relative from both maternal and paternal sides, and 87.8% had first degree relative with diabetes. Among them there was a significant maternal aggregation with 64.7% of patients having a diabetic mother compared with 27% who had a diabetic father (p<0.01). No maternal effect was observed among the second and third degree relatives. Patients with positive family history had an earlier onset of diabetes than those without family history (p<0.01).CONCLUSION—These data suggest that type 2 diabetes is heritable in black South African diabetics. It is also likely that maternal influences may play an important part.     

糖尿病家族史与妊娠期糖尿病的相关性

目的:探讨糖尿病家族史与妊娠糖尿病的关系。方法:于2004年12月～2005年9月对天津市区怀孕26～30周孕妇行口服50 g葡萄糖筛查试验,阳性妇女共896人,再行75 g口服葡萄糖耐量试验,发现妊娠糖尿病妇女共367例,并对这些妇女做糖尿病家族史调查。结果:糖尿病家族史是妊娠糖尿病的高危因素,妊娠糖尿病妇女有糖尿病家族史者占31.88%,两代母系(母亲及外祖母)遗传倾向明显大于两代父系(父亲及祖父)。结论:妊娠糖尿病与家族遗传有关,并且妊娠糖尿病的发生具有母系遗传大于父系遗传的倾向。     

Development of a provisional domain model for the nursing process for use within the health level 7 reference information model

ObjectiveSince 1999, the Nursing Terminology Summits have promoted the development, evaluation, and use of reference terminology for nursing and its integration into comprehensive health care data standards. The use of such standards to represent nursing knowledge, terminology, processes, and information in electronic health records will enhance continuity of care, decision support, and the exchange of comparable patient information. As part of this activity, working groups at the 2001, 2002, and 2003 Summit Conferences examined how to represent nursing information in the Health Level 7 (HL7) Reference Information Model (RIM).DesignThe working groups represented the nursing process as a dynamic sequence of phases, each containing information specific to the activities of the phase. They used Universal Modeling Language (UML) to represent this domain knowledge in models. An Activity Diagram was used to create a dynamic model of the nursing process. After creating a structural model of the information used at each stage of the nursing process, the working groups mapped that information to the HL7 RIM. They used a hierarchical structure for the organization of nursing knowledge as the basis for a hierarchical model for “Findings about the patient.” The modeling and mapping reported here were exploratory and preliminary, not exhaustive or definitive. The intent was to evaluate the feasibility of representing some types of nursing information consistently with HL7 standards.MeasurementsThe working groups conducted a small-scale validation by testing examples of nursing terminology against the HL7 RIM class “Observation.”ResultsIt was feasible to map patient information from the proposed models to the RIM class “Observation.” Examples illustrate the models and the mapping of nursing terminology to the HL7 RIM.ConclusionIt is possible to model and map nursing information into the comprehensive health care information model, the HL7 RIM. These models must evolve and undergo further validation by clinicians. The integration of nursing information, terminology, and processes in information models is a first step toward rendering nursing information machine-readable in electronic patient records and messages. An eventual practical result, after much more development, would be to create computable, structured information for nursing documentation.     

国家卫生信息概念数据模型与HL7 RIM的映射研究

目的:确定国家卫生信息概念数据模型与HL7 RIM之间的关系,检验概念数据模型的范围. 方法:在深刻理解RIM中每一个类或概念的基本定义及其在RIM中的角色的基础上,使它们与国家卫生信息概念数据模型中的实体一一对应. 结果:在所选取用于映射的211个不同层次的RIM类或概念中,共有165个有相应的概念数据模型实体与之映射,占全部的78.20%. 结论:国家卫生信息概念数据模型与HL7 RIM有着很强的映射关系,国家卫生信息概念数据模型在概念水平上是与国际卫生信息模型保持一致的.     

Application of Portable CDA for Secure Clinical-document Exchange

Health Level Seven (HL7) organization published the Clinical Document Architecture (CDA) for exchanging documents among heterogeneous systems and improving medical quality based on the design method in CDA. In practice, although the HL7 organization tried to make medical messages exchangeable, it is still hard to exchange medical messages. There are many issues when two hospitals want to exchange clinical documents, such as patient privacy, network security, budget, and the strategies of the hospital. In this article, we propose a method for the exchange and sharing of clinical documents in an offline model based on the CDA—the Portable CDA. This allows the physician to retrieve the patient’s medical record stored in a portal device, but not through the Internet in real time. The security and privacy of CDA data will also be considered.     

多囊卵巢综合征患者临床表型与家族史的相关性研究

目的探讨多囊卵巢综合征（PCOS）患者不同临床表型与家族史的相关性,研究遗传因素在PCOS发病中的作用。方法选取2010-2011年于本院就诊的PCOS患者146例,根据体重指数（BMI）将患者分为肥胖型PCOS（BMI＞25kg/m^2）60例和非肥胖型PCOS（BMI＜25kg/m^2）86例。记录所有患者的年龄、身高、体重、月经史、多毛及痤疮情况,测定空腹血糖（FBG）和空腹胰岛素（FINS）水平;采用家系调查表收集患者家族史,并加以对照研究。结果两组患者年龄、多毛、痤疮情况均无统计学差异（均P＞0.05）。肥胖型PCOS患者胰岛素抵抗（IR）发生率高于非肥胖型患者（P＜0.01）。有家族肥胖史的患者更易发生肥胖型PCOS,而亚组分析提示父系肥胖会导致患者肥胖型PCOS患病风险增加（P＜0.05）,母系肥胖对PCOS的临床表型影响无统计学意义（P＞0.05）;两组患者其余家族史方面比较均无统计学差异（均P＞0.05）。结论 PCOS患者的临床表型与代谢性疾病家族史具有一定相关性,有家族肥胖史的患者更易得肥胖型PCOS,且父系肥胖影响更大,提示和代谢相关的遗传基因可能在PCOS家族遗传中扮演重要角色。     

Building Clinical Data Groups for Electronic Medical Record in China

This article aims at building clinical data groups for Electronic Medical Records (EMR) in China. These data groups can be reused as basic information units in building the medical sheets of Electronic Medical Record Systems (EMRS) and serve as part of its implementation guideline. The results were based on medical sheets, the forms that are used in hospitals, which were collected from hospitals. To categorize the information in these sheets into data groups, we adopted the Health Level 7 Clinical Document Architecture Release 2 Model (HL7 CDA R2 Model). The regulations and legal documents concerning health informatics and related standards in China were implemented. A set of 75 data groups with 452 data elements was created. These data elements were atomic items that comprised the data groups. Medical sheet items contained clinical records information and could be described by standard data elements that exist in current health document protocols. These data groups match different units of the CDA model. Twelve data groups with 87 standardized data elements described EMR headers, and 63 data groups with 405 standardized data elements constituted the body. The later 63 data groups in fact formed the sections of the model. The data groups had two levels. Those at the first level contained both the second level data groups and the standardized data elements. The data groups were basically reusable information units that served as guidelines for building EMRS and that were used to rebuild a medical sheet and serve as templates for the clinical records. As a pilot study of health information standards in China, the development of EMR data groups combined international standards with Chinese national regulations and standards, and this was the most critical part of the research. The original medical sheets from hospitals contain first hand medical information, and some of their items reveal the data types characteristic of the Chinese socialist national health system. It is possible and critical to localize and stabilize the adopted international health standards through abstracting and categorizing those items for future sharing and for the implementation of EMRS in China.     

The Clinical Document Architecture and the Continuity of Care Record: A Critical Analysis

Health care provides many opportunities in which the sharing of data between independent sites is highly desirable. Several standards are required to produce the functional and semantic interoperability necessary to support the exchange of such data: a common reference information model, a common set of data elements, a common terminology, common data structures, and a common transport standard. This paper addresses one component of that set of standards: the ability to create a document that supports the exchange of structured data components. Unfortunately, two different standards development organizations have produced similar standards for that purpose based on different information models: Health Level 7 (HL7)'s Clinical Document Architecture (CDA) and The American Society for Testing and Materials (ASTM International) Continuity of Care Record (CCR). The coexistence of both standards might require mapping from one standard to the other, which could be accompanied by a loss of information and functionality. This paper examines and compares the two standards, emphasizes the strengths and weaknesses of each, and proposes a strategy of harmonization to enhance future progress. While some of the authors are members of HL7 and/or ASTM International, the authors stress that the viewpoints represented in this paper are those of the authors and do not represent the official viewpoints of either HL7 or of ASTM International.     

中枢神经系统血管母细胞瘤家系及基因学研究

目的探讨家族性中枢神经系统血管母细胞瘤(hemangioblastoma,HB)的临床特点及Von Hippel-Lin-dau(VHL)基因突变情况。方法对一个家族性中枢神经系统血管母细胞瘤所有成员进行临床资料收集及分析,绘制系谱图;并对家系成员进行VHL基因测序。结果该家系有5例患病,其中3例患者均行手术治疗,2例患者因该病死亡。VHL基因检测未发现VHL基因突变。结论早期发现及治疗能降低HB的危害,发现家族性HB应对家系成员进行普查,并行VHL基因检测,确诊为VHL病的患者需终生随访,以便及时处理复发或新发病灶。     

高发家系性精神分裂症的家族遗传临床分析和随访

目的：探讨高发家系性精神分裂症的家族遗传情况及高发家族史与其临床特征和预后的关系。方法：对３８例高发家系性和５０ 例低发性精神分裂症患者进行家系调查、临床对照分析和随访,将有关结果行统计学处理。结果：高发家系性与低发性精神分裂症相比,其亲属患病率、患病病种集中程度以及发病年龄,起病诱因,阴性症状,复发率和预后等方面差异均有显著性（Ｐ＜ ０．０５）。结论：高发家族史与精神分裂症的一些临床特征和预后有关,分别以阴性症状和阳性症状为主的精神分裂症可能存在不同的遗传背景,家族史可用作精神分裂症的一个分类指标     

The Development of MML (Medical Markup Language) Version 3.0 as a Medical Document Exchange Format for HL7 Messages

Medical Markup Language (MML), as a set of standards, has been developed over the last 8 years to allow the exchange of medical data between different medical information providers. MML Version 2.21 used XML as a metalanguage and was announced in 1999. In 2001, MML was updated to Version 2.3, which contained 12 modules. The latest version—Version 3.0—is based on the HL7 Clinical Document Architecture (CDA). During the development of this new version, the structure of MML Version 2.3 was analyzed, subdivided into several categories, and redefined so the information defined in MML could be described in HL7 CDA Level One. As a result of this development, it has become possible to exchange MML Version 3.0 medical documents via HL7 messages.     

家族史及体重指数在儿童血脂紊乱筛查中的意义

目的:探讨将家族史联合肥胖用于筛查儿童血脂紊乱的意义.方法:通过整群抽样方法对北京地区6～18岁儿童青少年进行横断面流行病学调查.有效调查对象19 037例,其中男童9 495人,女童9 542人,根据年龄及性别分为学龄期男童、青春期男童、学龄期女童和青春期女童.检测受试儿童空腹末梢血总胆固醇(total cholesterol, TC)、甘油三酯(triglyceride, TG)以及身高、体重并计算体重指数.结果:在总受试儿童中,有家族史儿童占38%,肥胖儿童占4.9%,有家族史并肥胖儿童占2.5%,有家族史或肥胖儿童占40.4%.无肥胖且无家族史儿童、无肥胖但有家族史儿童、肥胖但无家族史儿童及肥胖且有家族史儿童各种血脂异常发生率分别为:高脂血症[7.9%]、9.6%、30.1%及31.5%;高胆固醇血症0.9%、1.5%、 3.3%及2.9%;高甘油三酯血症7.1%、8.6%、29.2%及31.3%;混合型高脂血症0.2%、0.5%、0.4%及2.7%.肥胖儿童发生血脂紊乱的危险性与非肥胖儿童相比各性别年龄分组OR值(95%可信区间)分别为:学龄期男童6.439 (4.178～9.925)、青春期男童6.287 (4.153～[9.518)、]学龄期女童5.063 (3.041～8.427)、青春期女童3.665 (2.536～5.296) (P均=0.000).有家族史儿童发生血脂紊乱的危险性与无家族史儿童相比各性别年龄分组OR值(95%可信区间)分别为:学龄期男童1.204[ (0.952～1.522)] (P =0.121)、青春期男童1.331 (1.047～1.692) (P=0.020)、学龄期女童1.095 (0.847～[1.416)] (P=0.490)、青春期女童1.260 (1.070～1.483)(P=0.005).在血脂紊乱儿童中,有家族史儿童占[43.8%,]肥胖儿童占15.8%,有家族史并肥胖儿童占8.2%,有家族史或肥胖儿童占51.3%.结论:家族史联合肥胖对于筛查儿童血脂紊乱有重要意义.     

Identifying Smokers with a Medical Extraction System

The Clinical Language Understanding group at Nuance Communications has developed a medical information extraction system that combines a rule-based extraction engine with machine learning algorithms to identify and categorize references to patient smoking in clinical reports. The extraction engine identifies smoking references; documents that contain no smoking references are classified as UNKNOWN. For the remaining documents, the extraction engine uses linguistic analysis to associate features such as status and time to smoking mentions. Machine learning is used to classify the documents based on these features. This approach shows overall accuracy in the 90s on all data sets used. Classification using engine-generated and word-based features outperforms classification using only word-based features for all data sets, although the difference gets smaller as the data set size increases. These techniques could be applied to identify other risk factors, such as drug and alcohol use, or a family history of a disease.     

抑郁症患者的家庭负担和家庭功能评价

目的 评价抑郁症患者的家庭负担和家庭功能.方法 采用家庭负担量表(FBS)和家庭关怀度指数问卷(APGAR),对150例符合DSM-Ⅳ诊断标准的抑郁症患者的家庭负担和家庭功能进行评定,并与248个一般家庭进行比较,从家庭的角度评价抑郁症造成的疾病负担.结果 抑郁症患者FBS的家庭经济负担、家庭日常活动、家庭休闲娱乐活动、家庭成员心理健康4个因子的阳性回答率较高(分别为57.1%、51.6%、61.9%、78.6%),家庭成员生理健康、家庭关系两个因子的阳性回答率较低(分别为28.6%、39.7%);农村患者的家庭经济负担因子评分显著高于城镇患者[(1.14±0.09)分;(0.89±0.07)分,t =2.687,P ＜0.05],而家庭成员心理健康因子评分显著低于城镇患者[(0.42±0.36)分;(0.60±0.58)分,t =3.375,P ＜0.01];患抑郁症前存在功能障碍的家庭比例与对照组比较差异无显著性(24.6%,17.3%,χ2＝0.108,P ＞0.05),患病后出现功能障碍的家庭比例显著高于患病前和对照组(63.4%,24.6%,17.3%, P ＜0.01);患病后APGAR总分及各因子分均比患病前显著降低(均P ＜0.01).结论 抑郁症造成严重的家庭负担和家庭功能障碍.