Database, Registries and Monitoring of Congenital and Genetic Malformation.

Document Type : Research Studies

Authors

1 Department of Computer & Human Genetics at National Research Center., Cairo., Egypt.

2 Department of Computers & Human Genetics at National Research Center., Cairo., Egypt.

3 Department of Computer & Human Genetics National Research Center., Cairo., Egypt.

4 College of Medicine and King Khalid University Hospital., Riyadh., Saudi Arabia.

Abstract

With technical and industrial advances which have become a significant part of today's economic growth, remarkable advances have been made in the development and use of technical capabilities that enhance the endeavor of the medical profession. The developed countries have adopted the essential ''corner stone'' of database and registries development for monitoring birth defects. The use of National and Regional Registries has become ''a must'' to have a database that is necessary for rehabilitation, control and prevention programs. In Saudi Arabia, towards this objective, a study to establish a database and national registry to monitor birth defects and determine frequency, type, distribution and magnitude of the problem has been initiated in coordination with the Department of Human Genetics and the Computer department at the National Research Center aiming at developing an Arab Registry for Congenital and Genetic Malformation. The Prince Center for Disability Research (PSCDR)as well as the outpatient clinic for the human genetics department have developed a comprehensive research plan to study various aspects of handicaps and to assess the present care delivery status and consequently devise the most appropriate and applicable plan of care. Specific forms have been designed or collection of relevant information. The completeness and accuracy of reporting is ascertained by close supervision and adequate training of the team (composed of doctors, nurses and social workers) and a system by  which uniformity of diagnosis can be curtained. It is expected that the data derived from this study will establish a regional registries of the handicapped, incorporating congenital and genetic anomalies in Arabs and will provide the basis for further research in prevention and care programs combating the handicap problem. Towards this goal, this paper uses a pediatric knowledge base acquired from medical geneticists and proposes a system containing mainly three modules a knowledge base module, a knowledge processing module, and an interface module. This endeavor concentrates mainly on the genetic symptoms knowledge base representation that allows the knowledge processing module to perform diagnosis advise according to the abnormal features and assist in detecting new syndromes. The system can be extended and gene    or the medical problem domains. 

Main Subjects

MEJ- Mansoura Engineering Journal
Volume 20, Issue 4
VOL 20 has two issues issue 4 consist of two parts from (September to December)
December 1995
Pages 12-22

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