BackgroundBased on age of presentation, celiac disease (CD) is categorised as pediatric CD and adult CD. It however remains unclear if these are genetically and/or phenotypically distinct disorders or just different spectrum of the same disease. We therefore explored the common genetic components underlying pediatric and adult CD in a well characterized north Indian cohort.MethodsA retrospective analysis of children (n = 531) and adult (n = 871) patients with CD between January 2001 and December 2010 was done. The database included basic demographic characteristics, clinical presentations, associated diseases and complications, if any. The genotype dataset was acquired for children (n = 217) and adult CD patients (n = 340) and controls (n = 736) using Immunochip. Association analysis was performed using logistic regression model to identify susceptibility genetic variants.ResultsThe predominant form of CD was classical CD in both pediatric and adult CD groups. There was remarkable similarity between pediatric and adult CD except for quantitative differences between the two groups such as female preponderance, non-classical presentation, co-occurrence of other autoimmune diseases being more common amongst adult CD. Notably, same HLA-DQ2 and –DQ8 haplotypes were established as the major risk factors in both types of CD. In addition, a few suggestively associated (p < 5 × 10−4) non-HLA markers were identified of which only ANK3 (rs4948256-A; rs10994257-T) was found to be shared and explain risk for ~45 % of CD patients with HLA allele.DiscussionOverall phenotypic similarity between pediatric and adult CD groups can be explained by contribution of same HLA risk alleles. Different non-HLA genes/loci with minor risk seem to play crucial role in disease onset and extra intestinal manifestation of CD. None of the non-HLA risk variants reached genome-wide significance, however most of them were shown to have functional implication to disease pathogenesis. Functional relevance of our findings needs to be investigated to address clinical heterogeneity of CD.ConclusionsThis present study is the first comparative study based on common genetic markers to suggest that CD in pediatric age group and in adults are the spectrum of the same disease with novel and shared genetic risk determinants. Follow-up fine mapping studies with larger study cohorts are warranted for further genetic investigation.Electronic supplementary materialThe online version of this article (doi:10.1186/s12920-016-0211-8) contains supplementary material, which is available to authorized users.
Background: Emerging evidences show that severe acute malnutrition is prevalent in infants below 6 months of age. This study is focused on the prognostic factors which decide the outcome of management of these infants in a hospital.Methods: Admitted patient for severe acute malnutrition and related complications were observed during their stay in the hospital. Detailed history to find out contributing factors that cause severer acute malnutrition in this age group was taken. Anthropometry, related morbidities were recorded and outcome was assessed.Results: A total of 115 infants of 1 to 6months of age were enrolled to study. Birth characteristics such as birth weight (p-value 0.0133), prematurity (p-value 0.023), birth spacing (p-value 0.0064), infant feeding characteristics as giving pre-lacteal feed(p-value 0.011), exclusive breast feeding (p-value 0.0473), deprivation of colostrum (p-value 0.003), maternal characteristics as age at first conception (p-value <0.0001), maternal literacy status ( p-value 0.0453); presence of sepsis, incomplete immunization, presence of bilateral pedal edema, visible severe wasting, all these variables were found to affect the recovery of an infant during hospital stay.Conclusions: The present study helps to identify significant risk factors associated with severe acute malnutrition in less than 6 months old infants which can be included in management, prevention and policy making in future.
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