RESUMO
A major barrier for computer-based clinical decision support (CDS), is the difficulty in obtaining the patient information required for decision making. The information gap is often due to deficiencies in the clinical documentation. One approach to address this gap is to gather and reconcile data from related documents or data sources. In this paper we consider the case of a CDS system for colorectal cancer screening and surveillance. We describe the use of workflow analysis to design data reconciliation processes. Further, we perform a quantitative analysis of the impact of these processes on system performance using a dataset of 106 patients. Results show that data reconciliation considerably improves the performance of the system. Our study demonstrates that, workflow-based data reconciliation can play a vital role in designing new-generation CDS systems that are based on complex guideline models and use natural language processing (NLP) to obtain patient data.
RESUMO
Double heterozygotes for mutations in APC and a DNA mismatch repair gene are extremely rare. We report on an individual who had truncating mutations in APC and MLH1 whose clinical presentation initially resembled Familial Adenomatous Polyposis but then emerged as a novel phenotype with multiple jejunal carcinomas. We have reviewed the relevant literature on double heterozygotes and based on what has been reported to date, this phenotype was not anticipated. It may be useful for clinicians to be aware of this observation as clinical screening guidelines are proposed for such individuals.