BackgroundThe genetic and immunological factors that contribute to differences in susceptibility and progression between sub-types of inflammatory and autoimmune diseases continue to be elucidated. Inflammatory bowel disease and juvenile idiopathic arthritis are both clinically heterogeneous and known to be due in part to abnormal regulation of gene activity in diverse immune cell types. Comparative genomic analysis of these conditions is expected to reveal differences in underlying genetic mechanisms of disease.MethodsWe performed RNA-Seq on whole blood samples from 202 patients with oligoarticular, polyarticular, or systemic juvenile idiopathic arthritis, or with Crohn’s disease or ulcerative colitis, as well as healthy controls, to characterize differences in gene expression. Gene ontology analysis combined with Blood Transcript Module and Blood Informative Transcript analysis was used to infer immunological differences. Comparative expression quantitative trait locus (eQTL) analysis was used to quantify disease-specific regulation of transcript abundance.ResultsA pattern of differentially expressed genes and pathways reveals a gradient of disease spanning from healthy controls to oligoarticular, polyarticular, and systemic juvenile idiopathic arthritis (JIA); Crohn’s disease; and ulcerative colitis. Transcriptional risk scores also provide good discrimination of controls, JIA, and IBD. Most eQTL are found to have similar effects across disease sub-types, but we also identify disease-specific eQTL at loci associated with disease by GWAS.ConclusionJIA and IBD are characterized by divergent peripheral blood transcriptomes, the genetic regulation of which displays limited disease specificity, implying that disease-specific genetic influences are largely independent of, or downstream of, eQTL effects.Electronic supplementary materialThe online version of this article (10.1186/s13073-018-0558-x) contains supplementary material, which is available to authorized users.

BackgroundCompleting therapy for childhood cancer is an exciting milestone. However, this adjustment can be extremely stressful for patients and their families as they transition from cancer patient to survivor. A better understanding of the patient and family experience and their needs during this transition is crucial for developing guidelines and leveraging support for future patients and families.ProcedureParticipants were recruited from across the United States using a maximum variation sampling strategy. Families were eligible if they had a child diagnosed with cancer before age 15 and had completed treatment at least 1 year prior to their interview. Participants completed a 90–180‐minute semi‐structured interview either in person or virtually. Interviews focused on the experiences of getting a diagnosis, experiences with treatment, information seeking, impact of cancer on the family, social support, and transitions to survivorship. Inductive thematic analysis revealed a wide variety of themes. This paper examines the transition from active cancer therapy into survivorship.ResultsIdentified primary themes included (i) feelings about transitioning off therapy; (ii) coping with lingering effects; and (iii) experiences of transitioning off therapy and survivorship care. Subthemes highlighted the need for more support for both patients and families during this transition.ConclusionPatients and families desire more support during the transition off therapy. Suggestions included access to additional resources, earlier transition to receiving survivorship care, and more holistic survivorship care. Further research is needed to determine best models and feasibility of delivering this desired support to all patients and families.

Aims and Objectives:To describe the facilitators and barriers of getting from 'something's not right' to a childhood cancer diagnosis from the perspective of parents living in the United States of America. Background:It is common for families to experience long trajectories from when they first notice symptoms to receiving a childhood cancer diagnosis. Understanding this trajectory within the social and cultural contexts of the United States healthcare system is the first step in developing strategies for reducing this timeframe and mitigating some of the psychosocial impact for parents in receiving a childhood cancer diagnosis. This study examines the interpretations and meanings parents attributed to their child's symptoms, their decisions regarding seeking medical care, interactions with healthcare providers and the time course of events.Design: An inductive qualitative inquiry. Methods:In-depth, semi-structured interviews with 55 participants representing 39 unique cases of childhood cancer were conducted. Data were analysed using an inductive thematic approach. COREQ guidelines were followed.Results: Participants described multiple barriers and facilitators in their path to receiving a childhood cancer diagnosis. Facilitators included noticing something 'wasn't right' and physician in agreement that symptoms were unusual; acute symptoms requiring action; advocating for a diagnosis; and obtaining a second opinion. Barriers included parents having to interpret symptoms in the context of daily life; physician dismissiveness even when symptoms persisted; and not feeling they could question their physician's assessment. Conclusion:Families experience multiple facilitators and barriers in their trajectory to receiving a childhood cancer diagnosis.

Background: The prevalence of Celiac Disease (CD) in Juvenile Idiopathic Arthritis (JIA) has been reported to be 0.1% to 7% in various small studies. As a result of the limited number of research and their inconclusive results there are no clear recommendations for routine CD screening in asymptomatic patients with JIA. Our aim is to estimate the prevalence of IgA deficiency and tissue transglutaminase (tTG) IgA in a cohort of JIA followed in two large academic medical centers. Methods: Serum was collected and stored from all subjects and analyzed in a reference laboratory for total IgA (Quantitative Nephelometry) and tTG IgA antibody levels (Semi-Quantitative Enzyme-Linked Immunosorbent Assay). Fisher’s exact tests were performed for statistical significance. Risk estimates (odds ratios) with 95% confidence intervals were calculated. Results: 808 JIA and 140 controls were analyzed. Majority were non-Hispanic whites (72% vs 68% p=ns). A total of 1.2% of cases were IgA deficient compared to none of the controls (p=0.373). After excluding IgA deficient subjects, 2% of cases had tTG IgA >4u/mL compared to 3.6% of controls (p=0.216) (OR = 0.5; 95% C.I= 0.1-1.4); and 0.8% of cases had tTG IgA >10u/mL compared to 1.4% of controls (p=0.627) (OR=0.5; 95%C.I=0.1-2.9). Conclusions: Using the largest JIA cohort to date to investigate prevalence of celiac antibodies, the prevalence of positive tTG IgA was 0.8% and of IgA deficiency was 1.2%. The results did not demonstrate a higher prevalence of abnormal tTG IgA in JIA. The study did not support the routine screening of asymptomatic JIA patients for Celiac Disease (CD).