Translational Bioinformatics and Clinical Research (Biomedical) Informatics

Translational bioinformatics and clinical research (biomedical) informatics are the primary domains related to informatics activities that support translational research. Translational bioinformatics focuses on computational techniques in genetics, molecular biology, and systems biology. Clinical research (biomedical) informatics involves the use of informatics in discovery and management of new knowledge relating to health and disease. This article details 3 projects that are hybrid applications of translational bioinformatics and clinical research (biomedical) informatics: The Cancer Genome Atlas, the cBioPortal for Cancer Genomics, and the Memorial Sloan Kettering Cancer Center clinical variants and results database, all designed to facilitate insights into cancer biology and clinical/therapeutic correlations.     

我国护理信息学研究热点的共词聚类分析

目的 分析我国2000年以来护理信息学领域的研究热点,为护理信息学的发展及未来研究提供参考。方法 系统检索并筛选中国知网、万方、维普以及中国生物医学文献数据库收录的护理信息学相关研究文献,限定检索时间为2000年1月至2021年9月。利用Bicomb2.0软件统计相关研究文献中的高频关键词,采用SPSS25.0软件生成高频关键词聚类分析树状图,进行共词聚类分析。结果 共纳入相关文献3 644篇,提取35个高频关键词。共词聚类分析得到7个研究热点,分别是信息技术在护理教育中的应用、移动护理在临床护理及护理管理中应用的满意度、电子护理病历在ICU护理质量管理中的应用、手术室护理安全的信息化管理、护士/护生信息素养及影响因素、标准化护理术语在社区护理中的应用以及糖尿病患者的远程延续性护理。结论 近20年来我国护理信息学相关研究呈现出多元化和分散性的特点,未来应积极在全球视野下探索本土化护理信息学的发展方向,汲取有益经验,为我国护理信息学相关研究提供参考。     

高职院校开设《实用护理信息技术》的探索研究

目的提高高职护生护理信息能力,促进护理教学与临床护理工作的对接。方法以广泛调研为基础,参考国内外相关文献,经专家讨论,确定高职护生《实用护理信息技术》课程并实施于132名二年级高职护生,采用考核成绩、护理信息能力量表、课程满意度调查表评价课程实施的效果。结果课程结束后,护生理论知识与操作能力考核成绩、护理信息能力量表得分显著提高(均P0.01);超过80%护生对课程内容、教学方法等满意,但72.0%护生对课时安排满意度低。结论《实用护理信息技术》课程可以提高护生的护理信息能力,实现护理教学与临床护理工作的对接,为临床培养实用型护理人才。     

Clinical relevance of informatics systems

Clinical informatics is a rapidly growing field at the intersection between healthcare and information technology, with the goal of enhancing the quality of care provided by utilizing healthcare data effectively. Already playing a crucial role throughout many facets of our healthcare provision, informatics has increasingly significant implications for the safe and effective delivery of perioperative and critical care through enabling access to information and tools to support decision-making, as well as improving patient and systematic safety and reduce medical errors. Awareness of the latest developments in informatics therefore allows the benefits it affords to be safely and effectively embraced into our practice.     

Health informatics and the importance of coding

Health informatics can be defined as ‘The knowledge, skills and tools which enable information to be collected, managed, used and shared, to support the delivery of healthcare and to promote health.’ The use of computers in informatics requires standardized codes to identify synonymous medical terms. The International Statistical Classification of Diseases and Related Health Problems, 10th revision, (ICD-10) is used internationally to code morbidity and mortality; the Office of Population Censuses and Surveys Classification of Surgical Operations and Procedures, 4th revision, (OPCS-4) is used in the UK to code operations and procedures; Read codes and Clinical Terms Version 3 (CTV3) are used in primary care systems. Systemized Nomenclature of Medicine Clinical Terminology (SNOMED CT) incorporates all these coding systems. ICD-10 and OPCS-4 are fundamental to Payment by Results, the method by which healthcare providers in the NHS in England are paid.     

Role of Informatics in Patient Safety and Quality Assurance

Quality assurance encompasses monitoring daily processes for accurate, timely, and complete reports in surgical pathology. Quality assurance also includes implementation of policies and procedures that prevent or detect errors in a timely manner. This article presents uses of informatics in quality assurance. Three main foci are critical to the general improvement of diagnostic surgical pathology. First is the application of informatics to specimen identification with lean methods for real-time statistical control of specimen receipt and processing. Second is the development of case reviews before sign-out. Third is the development of information technology in communication of results to assure treatment in a timely manner.     

Next-Generation Sequencing vs Culture-Based Methods for Diagnosing Periprosthetic Joint Infection After Total Knee Arthroplasty: A Cost-Effectiveness Analysis

BackgroundPeriprosthetic joint infection (PJI) after total knee arthroplasty is challenging to diagnose. Compared with culture-based techniques, next-generation sequencing (NGS) is more sensitive for identifying organisms but is also less specific and more expensive. To date, there has been no study comparing the cost-effectiveness of these two methods to diagnose PJI after total knee arthroplasty.MethodsA Markov, state-transition model projecting lifetime costs and quality-adjusted life years (QALYs) was constructed to determine the cost-effectiveness from a societal perspective. The primary outcome was incremental cost-effectiveness ratio, with a willingness-to-pay threshold of $100,000/QALY. Sensitivity analyses were performed to evaluate parameter assumptions.ResultsAt our base case values, culture was not determined to be cost-effective compared to NGS, with an incremental cost-effectiveness ratio of $422,784 per QALY. One-way sensitivity analyses found NGS to be the cost-effective choice above a pretest probability of 45.5% for PJI. In addition, NGS was cost-effective if its sensitivity was greater than 70.0% and its specificity greater than 94.1%. Two-way sensitivity analyses revealed that the pretest probability and test performance parameters (sensitivity and specificity) were the largest factors for identifying whether a particular strategy was cost-effective.ConclusionThe results of our model suggest that the cost-effectiveness of NGS to diagnose PJI depends primarily on the pretest probability of PJI and the performance characteristics of the NGS technology. Our results are consistent with the idea that NGS should be reserved for clinical contexts with a high pretest probability of PJI. Further study is required to determine the indications and subgroups for which NGS offers clinical benefit.     

Health informatics and the importance of coding

Health informatics can be defined as ‘The knowledge, skills and tools which enable information to be collected, managed, used and shared, to support the delivery of healthcare and to promote health.’ The use of computers in informatics requires standardized codes to identify synonymous medical terms. ICD-10 is used internationally to code morbidity and mortality, OPCS-4 is used in the UK to code operations and procedures, Read codes and CTV3 are used in primary care systems. SNOMED CT incorporates all these coding systems. ICD-10 and OPCS-4 are fundamental to Payment by Results, the method by which healthcare providers in the NHS in England are paid.     

The diagnostic value of blood sample NGS in patients with early periprosthetic joint infection after total hip arthroplasty

The diagnostic value of next-generation sequencing (NGS) of blood samples from patients with periprosthetic joint infection (PJI) after total hip arthroplasty (THA) was evaluated by comparing it with drainage fluid NGS and bacterial culture. The study was designed as a retrospective diagnostic test. Thirty-six infected patients were diagnosed with PJI according to the Musculoskeletal Infection Society (MSIS) criteria and 57 volunteers were included in our study. NGS and bacterial culture were chosen to detect PJI after THA. Blood samples and drainage fluid were collected for NGS, and the drainage fluid, which was collected at the same time as the NGS drainage fluid sample, was used for bacterial culture. The primary outcomes of interest were sensitivity, specificity, and accuracy. In the infection group, 31 patients showed positive results by blood sample NGS, 33 patients showed positive results by drainage fluid NGS, and 17 patients showed positive bacterial culture results. In the control group, the results of 2 blood sample NGS, 16 drainage fluid NGS, and 3 bacterial cultures were positive. The sensitivity, specificity, and accuracy of the blood sample were 0.86, 0.96, and 0.92, respectively. The sensitivity, specificity, and accuracy of the drainage fluid samples were 0.92, 0.72, and 0.80, respectively. The sensitivity, specificity, and accuracy of bacterial culture were 0.47, 0.95, and 0.79, respectively. The study demonstrated that both the sensitivity and specificity of NGS were higher than those of bacterial culture, regardless of the kind of sample. Compared with drainage fluid NGS, the sensitivity of blood sample NGS was slightly lower (0.86 vs 0.92), but blood sample NGS showed higher specificity (0.96 vs 0.72). In total, the diagnostic value of blood sample NGS was superior to that of drainage fluid NGS and bacterial culture. The majority of infected patients could be identified by blood sample NGS. Moreover, because of its high specificity, blood sample NGS can not only detect infectious bacteria but also distinguish infectious from non-infectious bacteria, which is dramatically different from using drainage fluid NGS.     

Informatic nephrology

Biomedical informatics in Health (BIH) is the discipline in charge of capturing, handling and using information in health and biomedicine in order to improve the processes involved with assistance and management. Informatic nephrology has appeared as a product of the combination between conventional nephrology with BIH and its development has been considerable in the assistance as well as in the academic field. Regarding the former, there is increasing evidence that informatics technology can make nephrological assistance be better in quality (effective, accessible, safe and satisfying), improve patient’s adherence, optimize patient’s and practitioner’s time, improve physical space and achieve health cost reduction. Among its main elements, we find electronic medical and personal health records, clinical decision support system, tele-nephrology, and recording and monitoring devices. Additionally, regarding the academic field, informatics and Internet contribute to education and research in the nephrological field. In conclusion, informatics nephrology represents a new field which will influence the future of nephrology.     

Bar Coding and Tracking in Pathology

Bar coding and specimen tracking are intricately linked to pathology workflow and efficiency. In the pathology laboratory, bar coding facilitates many laboratory practices, including specimen tracking, automation, and quality management. Data obtained from bar coding can be used to identify, locate, standardize, and audit specimens to achieve maximal laboratory efficiency and patient safety. Variables that need to be considered when implementing and maintaining a bar coding and tracking system include assets to be labeled, bar code symbologies, hardware, software, workflow, and laboratory and information technology infrastructure as well as interoperability with the laboratory information system. This article addresses these issues, primarily focusing on surgical pathology.     

高通量基因测序植入前胚胎遗传学诊断和筛查技术规范(试行)

高通量基因测序技术的迅猛发展,极大地拓宽了人类胚胎植入前遗传学诊断/筛查(PGD/PGS)的适用范畴,提高了PGD/PGS的准确性。为了更规范地使用高通量基因测序技术进行PGD/PGS,中华医学会生殖医学分会制定此规范,以明确开展本项技术的基本条件、组织管理、临床流程与质量控制等方面的基本要求。     

Laboratory Information Systems

Laboratory information systems (LISs) supply mission-critical capabilities for the vast array of information-processing needs of modern laboratories. LIS architectures include mainframe, client-server, and thin client configurations. The LIS database software manages a laboratory’s data. LIS dictionaries are database tables that a laboratory uses to tailor an LIS to the unique needs of that laboratory. Anatomic pathology LIS (APLIS) functions play key roles throughout the pathology workflow, and laboratories rely on LIS management reports to monitor operations. This article describes the structure and functions of APLISs, with emphasis on their roles in laboratory operations and their relevance to pathologists.     

Is erectile dysfunction really a clinically useful predictor of cardiovascular disease?

OBJECTIVE: To evaluate the possible connection between erectile dysfunction (ED) and cardiovascular disease (CVD) in one of its more severe forms, namely myocardial infarction (MI). MATERIAL AND METHODS: The incidence of ED in men hospitalized due to MI (n=100) was compared with that reported in a questionnaire sent to an age-matched control population (n=129). RESULTS: The incidence of ED before MI (34%) was similar to that in the control population (30%). After MI, 53% reported ED. Smoking was much more common among the men with MI (82%) than among the controls (45%). Smoking was, however, only slightly more common among controls with (50%) than without (40%) ED. None of the men in the study group had consulted a physician due to ED before the MI and only 10/53 (19%) with ED after the MI had consulted a physician for this reason. Among the controls without a history of CVD, 18% reported ED, compared to 34% of the men before the MI but without clinical evidence of CVD and/or diabetes (p=NS). CONCLUSIONS: The well-known association between CVD and ED was confirmed. However, the lack of a sharp rise in the prevalence of ED prior to MI does not support the idea that ED is a clinically useful predictor of MI.     

Databases and the future of clinical trials in bladder cancer

As clinical trials continue to expand and evolve to include a wider range of collected information, the amount and variety of information available to clinical researchers has concurrently grown. This article describes a range of means to address this complexity and to accommodate the collection, storage, and integration of this information based on current approaches in biomedical informatics. By reviewing these current approaches, and drawing examples from actual practice within the clinical informatics community, a range of potential solutions and their potential impacts are discussed.     

The interplay of job demands,job resources and cognitive outcomes in informatics

The present study investigates the issue of match between job demands and job resources in the prediction of employees' cognitive well‐being. Job demands and job resources, as well as job‐related strains (and concepts concerned with positive well‐being), are not one‐dimensional concepts. At a very basic level they comprise physical, cognitive and/or emotional components. The triple match principle proposes that the strongest, interactive relationships between job demands and job resources are observed when job demands, job resources and strains are based on qualitatively identical dimensions. In this study, we specifically hypothesize that cognitive job resources are most likely to moderate the relationship between cognitive job demands and cognitive outcomes. Two measures of cognitive well‐being are included: learning motivation and professional efficacy. Using a web‐based questionnaire, data were collected in a sample of 207 informatics. Results partially confirm our hypotheses both in terms of main and in terms of interaction effects. Informatics with high cognitive job demands have a higher feeling of competence than informatics with low cognitive job demands. This effect is stronger when matching high cognitive job resources are available. These findings are in line with earlier research on the interaction effects in the prediction of employees' cognitive well‐being at work. Copyright © 2008 John Wiley & Sons, Ltd.     

Lumbar spinal degenerative “microinstability”: hype or hope? Proposal of a new classification to detect it and to assess surgical treatment

Purpose

The stage of unstable dysfunction, also defined as “active discopathy” by Nguyen in 2015 and configuring the first phase of the degenerative cascade described by Kirkaldy-Willis, has specific pathoanatomical and clinical characteristics (low back pain) in the interested vertebral segment, without the presence of spondylolisthesis in flexion–extension radiography. This clinical condition has been defined as “microinstability” (MI). The term has currently not been recognized by the scientific community and is subject of debate for its diagnostic challenge. MI indicates a clinical condition in which the patient has a degeneration of the lumbar spine, causing low back pain, and radiological examinations do not show a spondylolisthesis.

Methods

We elaborated a clinical score test based on preoperative radiological examinations (static and dynamic X-Rays, CT and MRI) to detect and assess MI. Then, we enrolled 74 patients, all the levels from L1 to S1 were analysed, for a total amount of 370 retrospectively analysed levels. We excluded patients with degenerative scoliosis, as it is related to an advanced stage of degeneration. The test has been developed with the aim of furnishing quantitative data on the basis of the aforementioned radiological examinations and of elaborating a diagnosis and a treatment for the degenerative pathology in dysfunctional phase, responsible for low back pain.

Results

We performed a statistical analysis on the results obtained from the test in terms of significativity and predictive value with a 1-year follow-up, calculating the p value and the χ ² value.

Conclusions

In patients with low back pain and negative dynamic X-Rays, an accurate analysis of the radiological exams (CT, MRI, X-Rays) allows to formulate a diagnosis of suspect MI with a good predictive value. This situation opens many clinical and medicolegal scenarios. The preliminary results seem to validate the test with a good predictive value, especially towards ASD, but they need further studies. On the basis of the results obtained, the test seems to allow a good classification of the dysfunctional phase of the degenerative cascade, identifying and classifying MI as a pathologic entity, defining its pathoanatomical and clinical relevance and elaborating a treatment algorithm.

     

Expanding transplant outcomes research opportunities through the use of a common data model

The volume of solid organ transplant in the United States is increasing, providing improved quality of life and survival for patients with organ failure. The growth of transplant requires a systematized management of transplant outcomes assessment, especially with the movement toward value‐based care. However, there are several challenges to analyzing outcomes in the current registry‐based, transplant reporting system: (1) longitudinal data points are difficult to capture in outcomes models; (2) data elements are restricted to those that already exist in the registry data; and (3) there is a delay in the release of outcomes report. In this article, we propose an informatics approach to solve these problems by using a “common data model” to integrate disparate data sources, data elements, and temporal data points. Adopting such a framework can enable multicenter outcomes analyses among transplant centers, nationally and internationally.     

基因二代测序技术在假体周围感染诊断中的价值

目的通过与细菌培养及血清生物学标志对比,探讨二代测序技术(NGS)对人工关节置换术后假体周围感染(PJI)的诊断价值。 方法选取2017年7月到2019年12月在聊城市人民医院关节外科因假体周围感染或无菌性松动行关节翻修手术,排除初始关节液无法采集到,通过关节内注射生理盐水获得样本的患者及其他部位存在感染病灶的患者,共纳入患者35人(35例)根据美国肌骨骼感染协会(MSIS)的诊断标准,15例患者纳入感染组,20例患者纳入非感染组。术前两组患者常规检查血沉(ESR)、C反应蛋白(CRP)、降钙素原(PCT)、白介素6(IL-6)及D-二聚体(D-Dimer)。所有患者术前均行关节穿刺,穿刺液检测白细胞计数、白细胞分类、细菌培养及NGS。计算ESR、CRP、PCT、IL-6及D-Dimer的受试者操作特性曲线(ROC)的曲线下面积(AUC)。计算NGS、细菌培养及各项血清学标志物的诊断精确度、敏感性及特异性。 结果髋关节19例(54.3%),膝关节16例(45.7%)。男性21例(60.0%),女性14例(40.0%),年龄67.0(62.0,74.0)岁。感染组15例患者中NGS结果阳性14例(93.3%),细菌培养结果阳性7例(46.7%)。非感染组NGS结果阴18例(90.0%)。ESR及D二聚体的AUC分别为0.667和0.572(均为P>0.05)。CRP、IL-6及PCT的AUC分别为0.827、0.767及0.808(均为P<0.01)。NGS、细菌培养、CRP、IL-6及PCT的精确度分别为0.91、0.74、0.77、0.74及0.83。NGS与CRP、IL-6、PCT、细菌培养两两比较,总体检测结果差异有统计学意义(P<0.01)。NGS与CRP、IL-6、PCT、细菌培养两两比较,NGS敏感性更高(P<0.05)。NGS与CRP比较特异性更好(P<0.05)。NGS与IL-6、PCT及细菌培养比较,特异性差异无统计学意义(P>0.05)。 结论NGS比细菌培养及常用的血清学标志物有更高的精确度及敏感性,在PJI的诊断中具有更大的价值。