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  • 1
    ISSN: 1530-0358
    Keywords: FAP ; APC ; RFLP ; CHRPE ; Presymptomatic diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Predictive carrier testing for the inherited disorder of familial adenomatous polyposis (FAP) can be conducted using DNA markers linked to the FAP locus. The presence of characteristic hypertrophic retinal lesions has been advocated as useful biomarkers for FAP. We have compared molecular linkage and retinal screening techniques by evaluating the presymptomatic carrier risk of 40 at-risk individuals from 15 FAP families. Linkage analysis was informative in all and retinal lesion analysis in 25 cases. For informative at-risk population, predictive diagnosis by both techniques was completely concordant and identified 15 members at “high” and 10 at “low” risk of inheriting FAP. Because of the unique advantages offered by each technique, a strategy integrating both techniques will increase the number of FAP families that can be screened presymptomatically. Identification of individuals at high risk of polyposis will improve their clinical surveillance and further reduce the incidence of colorectal cancer in FAP families.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1530-0358
    Keywords: Quality of life ; Ulcerative colitis ; Crohn's disease ; Inflammatory bowel disease ; Pelvic pouch ; Ileostomy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Health-related quality of life (HRQOL) is a quantitative measurement of subjective perception of health state, including emotional and social aspects. It can be reliably measured with several valid instruments. Previous reviews of the literature suggested inadequate attention to HRQOL in studies of interventions in inflammatory bowel disease. PURPOSE: This study was undertaken to assess the current status of the quality of measurement of HRQOL in studies of inflammatory bowel disease and to review the clinical conclusions warranted by the literature. METHOD: Medline was searched for articles relating to ulcerative colitis, Crohn's disease, or inflammatory bowel disease and quality of life since 1981. The articles found were reviewed for citations of further articles. The adequacy of HRQOL measure was assessed and graded, and the study design was categorized to assess the strength of the literature on the whole. RESULTS: A trend was found toward higher quality of HRQOL measurement in the period 1988 to 1994 compared with 1981 to 1987. Most of the improvement was because of increased use of standardized and multidomain but unvalidated and unpublished questionnaires for measurement. CONCLUSIONS: Confidence in the following clinical conclusions in studies of surgical interventions in inflammatory bowel disease is limited by study design: that pelvic pouch is not inferior to ileostomy, that specific domains of HRQOL are differentially affected by different surgical procedures, and (with less confidence) that surgery is helpful in Crohn's disease. Medical studies have demonstrated that high quality HRQOL measures can be integrated into randomized, prospective trials. Clinically equivalent treatments have shown differential effects on HRQOL: 9 mg daily of budesonide is superior to 15 mg, and hydrocortisone foam enemas are superior to prednisolone. Home parenteral nutrition has received modest support, limited again by study design. It is recommended that standard tests of HRQOL be used to increase comparability of studies and to increase the quality of this literature in general. In particular the Inflammatory Bowel Disease Questionnaire, Rating Form of Inflammatory Bowel Disease Concerns, and Direct Questioning of Objectives are recommended.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1530-0358
    Keywords: Coping ; Social support ; Inflammatory bowel disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract PURPOSE: The purpose of this study was to examine the association between coping behavior at the time of surgery and inflammatory bowel disease-related quality of life after surgery. We also investigated the relationship between perceived social support and both coping style and postsurgical quality of life. Finally, the value of the Medical Outcomes Study Social Support Scale for preoperative screening was assessed. METHODS: Eighty-six subjects who had surgery during a 12-month period completed the Inflammatory Bowel Disease Questionnaire, the Ways of Coping, a measure of inflammatory bowel disease symptom severity, and the Medical Outcomes Study Social Support Scale. Analysis of variance was used to test an association between Ways of Coping score and membership in a high quality of life (Inflammatory Bowel Disease Questionnaire 〉 mean) or low quality of life (Inflammatory Bowel Disease Questionnaire 〈 mean) cohort. Comparison of group means between the high quality of life and low quality of life cohorts identified Ways of Coping behavior scales that differed between the high quality of life and low quality of life cohorts. Stepwise linear regression analysis was then used to determine the independent contribution of 1) current inflammatory bowel disease symptoms, 2) current perceived social support, and 3) identified coping behaviors (self-control, self-blame, and escape, summed as a single index named “maladaptive coping”) to postsurgical quality of life. The sensitivity, specificity, and negative predictive value of the Medical Outcomes Study Social Support Scale were assessed. RESULTS: The lower quality of life group distinguished itself by more frequent use of maladaptive coping. Regression analysis revealed that current inflammatory bowel disease-related symptoms, current perceived social support, and maladaptive coping behaviors at the time of surgery each made a highly significant independent contribution to postsurgical quality of life. The sensitivity of the Medical Outcomes Study Social Support Scale in identifying patients with poor postsurgical quality of life was 81 percent, and the specificity was 77 percent. The negative predictive value was 93 percent. CONCLUSIONS: Three coping behaviors which seem to be maladaptive (self-control, self-blame, and escape) are associated with lower quality of life after surgery for inflammatory bowel disease. These coping behaviors make a contribution to postsurgical quality of life independent of the negative effect on quality of life of inflammatory bowel disease symptoms. Perceived social support is a third factor that makes an independent contribution to postsurgical quality of life. The Medical Outcomes Study Social Support Scale has properties associated with an effective screening tool and merits further investigation as an instrument to screen presurgically for individuals at higher risk of poor subjective outcome of inflammatory bowel disease surgery.
    Type of Medium: Electronic Resource
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