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Microcomputer-assisted diagnosis of inherited disorders of the skeleton
Several hundred inherited disorders of the skeleton have been delineated. Individually these conditions are rare, but as a group they cause much crippling and hardship. Several factors, including the rarity and complexity of the manifestations of these conditions, as well as semantic overlap, impede...
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| Format: | Thesis |
| Language: | English |
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Division of Human Genetics
2017
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| _version_ | 1867614230945988608 |
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| access_status_str | Open Access |
| author | Van Greunen, Francois |
| author2 | Beighton, Peter |
| author_browse | Beighton, Peter Van Greunen, Francois |
| author_facet | Beighton, Peter Van Greunen, Francois |
| author_sort | Van Greunen, Francois |
| collection | Thesis |
| description | Several hundred inherited disorders of the skeleton have been delineated. Individually these conditions are rare, but as a group they cause much crippling and hardship. Several factors, including the rarity and complexity of the manifestations of these conditions, as well as semantic overlap, impede the accurate diagnosis which is essential for effective treatment. In this regard, the adoption of microcomputers warrants evaluation as a high technology aid. Microcomputers have developed tremendous capabilities during recent years. The state of the art has become such that a diagnostic aid facility on such a device has been demonstrated in various disciplines of medicine and may also be feasible in the area of inherited skeletal disorders. The study which forms the basis of this thesis, concerns the investigation of this feasibility and has led to the development of an effective working model which sets the basis for microcomputer-aided diagnosis. The design features followed in this project are similar to those conventionally employed for "Expert systems" on mainframe computers. A comprehensive knowledge base consisting of over 200 skeletal disorders and 700 radiographic and clinical manifestations, has resulted. Furthermore, the application is capable of "learning", although inference as employed by the inference engines of real expert systems, is not employed. In this context learning implies that the knowledge base, with the passage of time, improves considerably when used by experts. Serendipitous findings in this regard are: • 1) Considerable improvement of existing profile descriptions can occur without any increased demands on computer memory and storage space; • 2) Growth of the knowledge base in the form of additional disease profiles can be effected with very modest inroads on memory and storage resources. The computerized diagnostic aid which resulted from this thesis, has been demonstrated to be successful in both the Department of Human Genetics of the University of Cape Town and the Department of Paediatrics of the Johannes Gutenberg University in Mainz. Evaluated both in terms of efficiency and utility, the system provides an enhancement to the specialist genetic diagnostician. These achievements have been effected by means of a unique newly developed application of compressed bit-mapping, attained by writing the applicable programs in Turbo Pascal and 8086- assembler languages. Calculations indicate that much larger data bases may possibly be implemented on present-day microcomputers by means of the methods developed in this project. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/25754 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:48:45.007Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2017 |
| publishDateRange | 2017 |
| publishDateSort | 2017 |
| publisher | Division of Human Genetics |
| publisherStr | Division of Human Genetics |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/25754 Microcomputer-assisted diagnosis of inherited disorders of the skeleton Van Greunen, Francois Beighton, Peter MacGregor, Ken Bones - Diseases - Diagnosis - Data processing Bone diseases - Diagnosis Bone Diseases - familial & genetic Diagnosis, Computer-Assisted Hereditary diseases - Diagnosis Several hundred inherited disorders of the skeleton have been delineated. Individually these conditions are rare, but as a group they cause much crippling and hardship. Several factors, including the rarity and complexity of the manifestations of these conditions, as well as semantic overlap, impede the accurate diagnosis which is essential for effective treatment. In this regard, the adoption of microcomputers warrants evaluation as a high technology aid. Microcomputers have developed tremendous capabilities during recent years. The state of the art has become such that a diagnostic aid facility on such a device has been demonstrated in various disciplines of medicine and may also be feasible in the area of inherited skeletal disorders. The study which forms the basis of this thesis, concerns the investigation of this feasibility and has led to the development of an effective working model which sets the basis for microcomputer-aided diagnosis. The design features followed in this project are similar to those conventionally employed for "Expert systems" on mainframe computers. A comprehensive knowledge base consisting of over 200 skeletal disorders and 700 radiographic and clinical manifestations, has resulted. Furthermore, the application is capable of "learning", although inference as employed by the inference engines of real expert systems, is not employed. In this context learning implies that the knowledge base, with the passage of time, improves considerably when used by experts. Serendipitous findings in this regard are: • 1) Considerable improvement of existing profile descriptions can occur without any increased demands on computer memory and storage space; • 2) Growth of the knowledge base in the form of additional disease profiles can be effected with very modest inroads on memory and storage resources. The computerized diagnostic aid which resulted from this thesis, has been demonstrated to be successful in both the Department of Human Genetics of the University of Cape Town and the Department of Paediatrics of the Johannes Gutenberg University in Mainz. Evaluated both in terms of efficiency and utility, the system provides an enhancement to the specialist genetic diagnostician. These achievements have been effected by means of a unique newly developed application of compressed bit-mapping, attained by writing the applicable programs in Turbo Pascal and 8086- assembler languages. Calculations indicate that much larger data bases may possibly be implemented on present-day microcomputers by means of the methods developed in this project. 2017-10-25T07:44:09Z 2017-10-25T07:44:09Z 1988 2017-07-25T09:42:04Z Master Thesis Masters MD http://hdl.handle.net/11427/25754 eng application/pdf Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| spellingShingle | Bones - Diseases - Diagnosis - Data processing Bone diseases - Diagnosis Bone Diseases - familial & genetic Diagnosis, Computer-Assisted Hereditary diseases - Diagnosis Van Greunen, Francois Microcomputer-assisted diagnosis of inherited disorders of the skeleton |
| thesis_degree_str | Master's |
| title | Microcomputer-assisted diagnosis of inherited disorders of the skeleton |
| title_full | Microcomputer-assisted diagnosis of inherited disorders of the skeleton |
| title_fullStr | Microcomputer-assisted diagnosis of inherited disorders of the skeleton |
| title_full_unstemmed | Microcomputer-assisted diagnosis of inherited disorders of the skeleton |
| title_short | Microcomputer-assisted diagnosis of inherited disorders of the skeleton |
| title_sort | microcomputer assisted diagnosis of inherited disorders of the skeleton |
| topic | Bones - Diseases - Diagnosis - Data processing Bone diseases - Diagnosis Bone Diseases - familial & genetic Diagnosis, Computer-Assisted Hereditary diseases - Diagnosis |
| url | http://hdl.handle.net/11427/25754 |
| work_keys_str_mv | AT vangreunenfrancois microcomputerassisteddiagnosisofinheriteddisordersoftheskeleton |