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CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results.

INTRODUCTION: Survival of patients with congenital heart disease has dramatically improved after surgical repair became available 40 years ago. Instead of a mortality of 85% during childhood following the natural course, over 85% of these infants are now expected to reach adulthood. However, data on long-term outcome is scarce due to the lack of large, national registries. Moreover, little is known about the genetic basis of congenital heart defects. In 2000, the Interuniversity Cardiology Institute of the Netherlands and the Netherlands Heart Foundation have taken the initiative to develop a national registry and DNA-bank of patients with congenital heart disease in the Netherlands named CONCOR. OBJECTIVES: The aims of the CONCOR project are to facilitate investigation of the prevalence and long-term outcome of specific congenital heart defects and their treatment, to develop an efficient organisational structure for the improvement of healthcare for patients with congenital heart disease, and to allow investigation of the molecular basis of congenital heart defects. METHODS: After informed consent, research nurses enter data of participating patients into the CONCOR database using a web application. Data is transferred over the Internet via a secure connection. About 20 ml blood is withdrawn from the patient, and the DNA is isolated and stored. From each participating patient family history on congenital heart disease is obtained. RESULTS: Within two and a half years more than 4200 patients have agreed to participate. More than 99% of the patients that were asked have given their consent to participate in CONCOR. From 60% of these patients DNA has already been obtained. Mean age of the patients included is 34 years; more than 85% of the patients are younger than 45 years. Late complications occur frequently and the incidence increases with advancing age. 18% of the patients are known with supraventricular or ventricular arrhythmias. 2% of the included patients suffered a cerebrovascular accident, 139 (3%) had endocarditis. 6% of the patients has pulmonary hypertension or Eisenmenger syndrome. More than 15% of the patients reported an affected family member with congenital heart disease in the first, second, or third degree. 6% has an affected first-degree relative, and 4% a second-degree relative. Already 10 research projects have started using the CONCOR data and DNA. CONCLUSION: The population of patients with congenital heart disease is young and rapidly growing. Late complications occur frequently and the incidence increases with advances age. The CONCOR registry and DNA-bank facilitates research on prevalence and long-term outcome and allows investigation of the molecular basis of congenital heart disease.

Academies and Institutes↗

Protecting medical data for decision-making analyses.

In this paper, we present a procedure for data protection, which can be applied before any model building based analyses are performed. In medical environments, abundant data exist, but because of the lack of knowledge, they are rarely analyzed, although they hide valuable and often life-saving knowledge. To be able to analyze the data, the analyst needs to have a full access to the relevant sources, but this may be in the direct contradiction with the demand that data remain secure, and more importantly in medical area, private. This is especially the case if the data analyst is outsourced and not directly affiliated with the data owner. We address this issue and propose a solution where the model-building process is still possible while data are better protected. We consider the case where the distributions of original data values are preserved while the values themselves change, so that the resulting model is equivalent to the one built with original data.

Algorithms↗

Modeling and teaching techniques for conceptual and logical relational database design.

This paper proposes a series of techniques to be used in teaching database design. Common ERD notations are discussed. The authors developed an ERD notation, adapted from the Unified Modeling Language, which facilitates student learning of the database design process. The paper presents a specific step by step process for representing the ERD components as tables and for normalizing the resulting set of tables.

Computer Simulation↗

Development of a computerized laboratory alerting system.

Using the capabilities of the HELP medical information system at LDS Hospital, a Computerized Laboratory Alerting System (CLAS) was developed. CLAS monitors and alerts for the presence of life-threatening conditions in hospitalized patients which are indicated by laboratory test results. Alerts are posted on computer terminals on the hospital's nursing divisions, where they are reviewed and acknowledged by hospital staff so that appropriate treatment can be rapidly instituted. CLAS was evaluated to determine its effectiveness in relaying alerts to the clinical staff, and improvements were made to develop an effective user interface. Initial average alert response times on nursing divisions ranged from 5.1 to 58.2 hr. The average alert response time dropped to 3.6 hr when alert review was integrated with laboratory result review, and to 0.1 hr after installation of a flashing light to notify hospital staff of the presence of new alerts.

Clinical Laboratory Information Systems↗

Experiences from the use of data-driven decision support in different environments.

The paper reports experiences from the implementation and use of data-driven decision support based on the Arden Syntax in three different environments: in a health-care centre, in a clinical laboratory, and in a research department. Methods and tools used for realization of decision support systems (DSSs) are shortly presented, and integration aspects of the DSS with running clinical applications and existing patient databases are discussed. The application areas are also described, together with validation procedures for the developed knowledge modules.

Artificial Intelligence↗

A system for automated procedure documentation.

Quantitative information regarding competency in performing procedures is invaluable in attesting to a house officer's abilities when assessments need to be made. Thus, the means by which procedures, proficiency, and experience can be recorded and organized in an automated fashion need not be any further away than the nearest micro-computer. The procedure documenting system (PDS) automates the documenting of procedures and quantitative information pertaining to these procedures, and shortens the time demanded of the house officer to document procedures from a mean of 5.5 to 1.9 min. This paper is a description of the work done to automate the recording of procedures performed by housestaff at a teaching hospital and the acceptance by housestaff. This computer program takes the specific information and places it into a specialized database so that house officers can have detailed documentation attesting to their proficiency in various procedures. In addition, the program director can access the database to document the quantity of procedures to which an individual house officer has attained competence.

Automation↗

Clinical workstations: identifying clinical requirements and understanding clinical information.

A preliminary exploration of the problem of defining and meeting users' needs, this paper draws the bulk of its content from experiences in the PEN&PAD project in the UK. This program has been researching and developing prototype clinical workstations for direct use in patient care by health care professionals, chiefly doctors. Focusing more on general issues rather than the specific functional requirements embodied in the PEN&PAD prototypes, the paper begins with a brief summary of the goals of PEN&PAD and then outlines the three main axes of the work: user-centred design, medical concept and medical record models, and user interfaces and architectures. The remainder of the paper then concentrates on the first of these topics--working with users to define functional requirements.

Computer Systems↗

User metaphors for health care professional workstations.

The problem encountered by health care professionals and software developers has been a lack of demonstrable visions (prototypes) for Computer-based Patient Record (CPR) and Clinical Information System (CIS) applications. This deficiency has resulted in a quest for and consideration of models, metaphors, and mind maps for the Healthcare Professional Workstation (HPW)--the access mechanism for the CPR and the CIS. The familiar physician desktop and traditional paper-based metaphors are not adequate for all aspects of clinical information processes. In the clinical care environment, the flowsheet is a transporting metaphor because many different applications and tasks can be 'transported' into the flowsheet. 3D Rooms, Gopher and Genes are familiar and transporting metaphors to be exploited for HPWs. Using transporting metaphors for HPW software emphasizes commonality and de-emphasizes diversity. Each model and metaphor has an associated mind map. Only the mental model, mental metaphor or mind map for HPW software is important. Metaphors communicate real-world analogies, and communication is at the core of what defines usability. A mind map facilitates communication by building a model in the user's mind. The barriers to HPWs are not technical; they are related to economics, ownership of patient information, liability and information standards.

Computer Systems↗

Design and processing issues for the health care professional workstation: summary and recommendations.

The health care professional workstation is a window to a heterogeneous set of functions that need to be ported to various types of hardware for different types of users. Processing aspects, which belong with the interface, storage and communication, to the architectural dimension of the workstation should not be considered outside of a more comprehensive model including the user, function and time dimensions. Several recommendations, which could provide the appropriate environment for development and help maintain a viable approach as the variables change along the four dimensions of the workstation model, are proposed. They concern the adaptation of the enterprise infrastructure to integrate workstations, the need for a reference architecture for health care workstation development and recommendations for the evaluation and dissemination of results.

Computer Communication Networks↗

An architecture for a health care provider's workstation.

This paper presents an architecture for a health care provider's workstation designed to assist health care providers in performing their daily activities. The design is based on the concept of a clinician's associate which acts as an intelligent intermediary between the provider and a diverse collection of clinical, administrative, and educational information sources. The architecture is designed to be hardware platform independent, to work across different I/O capabilities, and to be open, allowing specialized applications to be easily integrated with the system and their functionality delivered through a common user environment.

Computer Communication Networks↗

Sharing and communicating health care information: summary and recommendations.

Sharing and communicating information is a fundamental task in modern medicine. The health care system of the western world is based on teamwork of professionals who participate in the care of patients. Exchange of information (not just data) requires the communicating parties to agree on a communication channel, an exchange protocol, and a common language. The language includes an alphabet, words, phrases, and symbols that express and assign meaning, understood by all. The most common forms of communication are the spoken word and the paper-based patient record. Computers and communication systems improve the sharing of health care information by overcoming the limitations imposed by the dimensions of time and location. However, natural language is still too complex and too ambiguous for current computing devices to handle the complex interactions between health care professional and patients. A simpler 'language' is needed that uses domain specific vocabularies (and/or codes), well-defined exchange protocols for data, information, knowledge, and, in the future, perhaps even wisdom. This simpler 'language' is expected to handle most of the routine information exchange but not eliminate natural language. It is essential that health care information systems preserve and incorporate natural language expressions and integrate them with structured vocabularies. Today, agreeing on standard data exchange protocols and domain specific vocabularies and codes is our greatest challenge. However, standards alone are not sufficient. Acceptance of the standards by the health care professionals, verifications in clinical environments, and implementation agreements by the medical informatics industry are essential. The group on 'Sharing and Communication of Health Care Information' addressed the issues raised above and unanimously recommends a number of steps that will improve the sharing of information. In addition, specific recommendations are offered to governments, health care institutions, and to developers of health care information systems.

Communication↗

New opportunities for processing the OSI-7 layer protocols using parallel processing (transputers).

The attractiveness of the OSI-7 layer model is closely dependent upon a highly ambitious intent to promote a series of quasi-universal standards to coordinate the communication between heterogeneous applications, whatever the distributed architectures might be. However, a major criticism of the OSI-model is the performance and the handling of the presentation layer. This paper deals with the evaluation of parallel processing techniques operating at the upper levels of the OSI-model using transputers in a parallel co-processor. It is shown that the performance problem is highly dependent on the structure of the protocol stack and its implementation. With the object-oriented modularization of the protocol stack, an architecture of a possible co-processor using transputers is considered and its performance is considered adequate. An ideal configuration is briefly presented. A final performance appraisal of the parallelism effect is discussed with some insight into the future.

Computer Communication Networks↗

Development of an optically scanned consultation-liaison data base.

Every clinical service must record certain data about its patient care activities. In low-volume services, such as Psychiatric Inpatient Services, with perhaps 20-30 admissions per month, and an average patient stay of 2-4 weeks, a large amount of data on each patient can be obtained during the contact time with the patient. On the other hand, very large-volume psychiatric services, such as Emergency and Consultation-Liaison (C-L) Services, may not need or be able to gather such a large amount of data on every patient seen. This article describes the development of a brief, optically scannable, and computerized minimal data base form for patients seen by a very large division of C-L Psychiatry. The system is feasible and easily auditable for completeness and reliability. This data base has already served many important functions beyond providing an administrative statistical summary of services rendered. It is presented as a model for the development of similarly efficient data collection methods for other high-volume psychiatric services.

Computer Systems↗

Hash function performance on different biological databases.

Open hashing is used to demonstrate the effectiveness of several hashing functions for the uniform distribution of biological records. The three types of database tested include (1) genetic nomenclature, mutation sites and strain names, (2) surnames extracted from literature files and (3) a set of 1000 numeric ASCII strings. Several hash functions (hashpjw, hashcrc and hashquad) showed considerable versatility on all data sets examined while two hash functions, hashsum and hashsmc, performed poorly, on the same databases.

Clinical Laboratory Information Systems↗

KBSIM/FLUIDTHERAPY: a system for optimized design of fluid resuscitation in trauma.

An application of the KBSIM (Knowledge-Based SIMulation) system to the improved design of fluid resuscitation is described. The system integrates knowledge from three domains, viz. the pathophysiology of traumatized patients represented in a quantitative biodynamic model, the heuristics of fluid resuscitation of such patients as represented in 'production rules', and some 'metaknowledge' reflected in the design of a multi-window user interface. This technique of combining numerical simulation with symbolic reasoning has obvious advantages during the design process and in training, by giving the user a possibility to evaluate his measures by direct feedback from the system. This feature of the system to assist in evaluation of alternative resuscitation procedures should also be useful as a means for decision support.

Artificial Intelligence↗

Present status and performance of PACS at Kyoto University Hospital.

A pilot PACS project, named KIDS, has been running in Kyoto University Hospital. The purpose of the system is to establish a small PACS that includes all digital imaging modalities and to evaluate it. The project has been continued from the first phase (KIDS-1) to the second phase (KIDS-2). In the first phase, a small-scale PACS was developed. In the second phase, the expansion of coverage of modalities and completion of the image database was intended. At present, the database contains image data of 16264 patients amounting to 150 Gbytes. Simulation of the retrieval process to the database shows that 154.3 s per patient is required for retrieving his/her entire image data. This calculated value is close to the actual time.

Computer Communication Networks↗

PACS and the reporting system. Present status of PACS in the University of Tsukuba.

In the University of Tsukuba, PACS research is being carried out with a special emphasis on the reporting system. The radiological diagnostic system in Japan is not sufficiently developed and the number of diagnostic radiologists in Japan is not as large as in many European countries (M. Akisada, Present status of PACS activities in Japan. Med. Inform. 13 (1988) 289-293). With recognition of this fact, PACS research in Japan should also focus on the reporting system. Recently, the first PACS workstation was installed in the Department of Radiology of the University Hospital, but it has not yet been put to clinical use. Reports can be made on this workstation while viewing the properly provided digital images of MR and CT. As to the concepts of the reporting system, there are three important points. The first one is the double check system to maintain the standard quality of diagnostic performance. This system is expected to provide proper training and education to students and young doctors (S.E. Selzer, S.J. Hessel, P.G. Herman et al., Resident film interpretations and staff review. Am. J. Radiol. 137 (1981) 129-133). The second one is to develop a transcriber workstation, through which reports are easily handled as routine work. The last point is to provide a well-organized diagnostic coding system. For this purpose, a modified IRD (Index for Radiological Diagnosis, by the American College of Radiology) is assumed to be one of the best choices.

Computer Systems↗