Most patients diagnosed with celiac in childhood receive no medical or dietary supervision after transition to adulthood. One-third are not compliant with diet; the primary motivating factor for those who do comply is avoidance of symptoms rather than fear of complications. The prevalence of preventable and treatable disorders in these young adults highlights a failure of health services after transition from pediatric to adult health care.
The hypothesis that mucosal inflammation in celiac disease may have a sensitizing effect or may predispose to IBS-type symptoms is supported by these results. Failure to attain optimal subjective well-being is common in celiac patients, particularly in those with coexisting IBS. Compliance with a gluten-free diet confers some benefit.
Linkage of IBD to the pericentromeric region of chromosome 16 has been widely confirmed by analyses of multiple populations. The NOD2 gene is located in the peak region of linkage on chromosome 16 and thought to be involved in the activation of nuclear factor (NF) jB in response to bacterial components. Mutations in the NOD2 gene are found to be strongly associated with susceptibility to Crohn's disease (CD). A total of 65 Irish CD families were genotyped to determine if NOD2 mutations conferred susceptibility to CD and the prevalence of these mutations in sporadic and familial forms of the disease. The Irish population is relatively homogenous and thus may provide advantages in genetic studies of complex diseases. We confirmed the IBD1 locus as a susceptibility locus for IBD within the Irish population by linkage analysis followed by linkage disequilibrium studies. No significant evidence of linkage was observed to the previously identified regions on chromosomes 1, 12 and 14. In all, 131 CD affected families were then genotyped for seven of the previously published NOD2 single-nucleotide polymorphisms (SNPs). Allelic transmission distortion was investigated using the pedigree disequilibrium test (PDT). SNP13 (3020insC) was found to be associated with CD (P ¼ 0.0186). Patients who possessed a rare allele of SNP8, 12 or 13 presented earlier when compared to patients without rare variants (mean age, 20.1 vs 24 years, P ¼ 0.011) and the rare allele of SNP13 was observed to be predominantly linked to ileal disease (P ¼ 0.02). This report confirms the importance of NOD2 as a susceptibility gene for CD within the Irish population.
In this series of patients with Addison's disease, a higher co-morbidity with coeliac disease was observed than in any previously studied endocrine condition. We recommend that coeliac serology (anti-endomysial and tissue transglutaminase antibody) testing be incorporated routinely into the autoimmune screen for other conditions in patients with Addison's disease.
BackgroundThe recent growth of arts and humanities in medical education shows recognition that these disciplines can facilitate a breadth of thinking and result in personal and professional growth. However creative work can be a challenge to incorporate into a busy curriculum. Offering the option of creative media as a way of reflecting is an example of how this can occur. This study aimed to examine the medical student response to being given this option to explore a visit to a patient in a hospice.MethodsThis was a mainly qualitative study. In the 2012 academic programme, the class of 86 students were given the option of using a creative medium to explore their responses to both the visit and their developing communication skills. Students were required to write an accompanying commentary if submitting the creative work option. Sixty-four percent of the class chose a creative medium e.g. poetry, visual art, narrative prose, music. These students were asked to take part in research including completing a short on-line survey and consenting for their creative work and commentaries to be further examined. The creative works were categorised by genre and the commentaries analysed using inductive thematic analysis.ResultsSeventeen students completed the on-line survey and fifteen consented to their work being used for this research. Thematic analysis of the student commentaries revealed the following themes: effectiveness for expressing emotion or ideas that are difficult to articulate; engaging and energising quality of the task; time for reflection; flexibility for individual learning styles and therapeutic value.ConclusionsTeaching the art of communicating at end-of-life is challenging especially when it involves patients, and teachers want to ensure students gain as much as possible from the experience. Offering the option to use creative media means that students can choose a medium for reflection that best suits them as individuals and that can enable them to benefit as much as possible from their experience.
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