Database, Registries and Monitoring of Congenital and Genetic Malformation. | ||||
| MEJ- Mansoura Engineering Journal | ||||
| Article 3, Volume 20, Issue 4, December 1995, Page 12-22 PDF (995.83 K) | ||||
| Document Type: Research Studies | ||||
| DOI: 10.21608/bfemu.2021.162259 | ||||
 View on SCiNiTO | ||||
| Authors | ||||
| Mohamed Nour El-Sayed Ahmed* 1; Nadia Hegazi1; Samia El-Temtamy1; Ehab Aboul-Ezz2; Najwa Abd El-Megid3; Ali El-Hazmi4 | ||||
| 1Department of Computer & Human Genetics at National Research Center., Cairo., Egypt. | ||||
| 2Department of Computers & Human Genetics at National Research Center., Cairo., Egypt. | ||||
| 3Department of Computer & Human Genetics National Research Center., Cairo., Egypt. | ||||
| 4College 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. | ||||
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