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Biomedical subjects

B McCauley

Publications and source records attributed to B McCauley.

7 recordsLinked to original sources

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.

A YAC/STS map has been assembled spanning 22 Mb across Xq12-q21.31, between markers DXS1125 and DXS95. In addition to the landmark loci for the X-inactivation center XIST and the ATRX, ATP7A, phosphoglycerate kinase, POU3F4, and choroideremia genes, the candidate disease gene regions for torsion dystonia 3 and two X-linked mental retardation syndromes are included. Also, the human voltage-dependent anion channel gene (HVDAC1) has been placed near DXS986. The current map incorporates 211 YACs from five different libraries, formatted with 185 STSs that comprise 26 genetic linkage markers, 60 newly-developed YAC-end STSs, and eight ESTs. The multiple clone coverage and average resolution of one STS per 120 kb provide resources for disease gene searches and are facilitating complete sequencing of the region.

Base Sequence↗

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content.

A YAC/STS map of the X chromosome has reached an inter-STS resolution of 75 kb. The map density is sufficient to provide YACs or other large-insert clones that are cross-validated as sequencing substrates across the chromosome. Marker density also permits estimates of regional gene content and a detailed comparison of genetic and physical map distances. Five regions are detected with relatively high G + C, correlated with gene richness; and a 17-Mb region with very low recombination is revealed between the Xq13.3 [XIST] and Xq21.3 XY homology loci.

Base Composition↗

Incorporation of the Arden Syntax within the reimplementation of a closed-loop decision support system.

The initial implementation of a clinical decision support system, although extremely successful and popular with users, suffered from response time and operational support difficulties. As part of the redesign of the system, which uses closed-loop rules to propose laboratory and other investigations, the decision was taken to move to Arden Syntax for the expression of such rules, although in some areas the current standard was felt to be either inadequate or inelegant. Such limitations have been overcome by the development of local extensions to the Arden Syntax, which are described and where appropriate proposed as possible enhancements of the standard. The use of common UNIX tools in the creation of a compiler which converts Arden Medical Logic Modules to M (MUMPS) code is also discussed.

Decision Making, Computer-Assisted↗

Computerised protocols for laboratory investigation and their effect on use of medical time and resources.

AIMS: To devise a computerised management system protocol which not only proposes the laboratory investigations to be performed on each patient but also performs related clinical functions. METHODS: The system was designed by senior members of staff. The protocols defined all laboratory investigations including haematology, biochemistry, immunology and cross-matching, and included static and dynamic rules. Patients can be changed to different or additional protocols, as required; likewise proposed tests can be deleted or added. The software is written in MUMPS and runs on a 386 PC running MSM MUMPS under MSDOS. RESULTS: The number of clinical chemistry tests requested per patient per day fell by 9.5% (p less than 0.01) for transplant recipients and by 28.8% (p less than 0.01) for non-transplant recipients. The average time spent by junior medical staff requesting laboratory investigations and enquiring about results fell from 10 minutes per patient per day to 4.1 minutes (p less than 0.001). CONCLUSIONS: The introduction of this system in no way abrogates clinicians' responsibility for the management of patients, because all proposed investigations must be confirmed or modified by the authorising doctor. The system allows for the audit of requesting patterns and subsequent improvement in protocols by recording any alterations made to the proposed investigations. Significant benefits in terms of better use of house officer time and medical resources were also achieved.

Clinical Laboratory Information Systems↗