Chronic recurrent multifocal osteomyelitis (CRMO) has been reported in association with inflammatory bowel disease (IBD), mostly in children. We describe the UK paediatric experience of CRMO and IBD and review the global literature. Three cases of CRMO and IBD were identified in UK children during the last 10 years. This adds to the previously published 24 cases worldwide (15 children). We provide further evidence for the true association of CRMO and IBD, and a greater understanding of disease course. CRMO may be considered a rare extraintestinal complication of IBD.

In PCD, rapid food reintroduction following 6-week EEN is safe and equally effective as longer food reintroduction. We propose that a rapid food reintroduction schedule be recommended as the most tolerable approach for food reintroduction. Relapse rate and duration of remission are uninfluenced by the type of food reintroduction.

No abstract

Background and AimsThe inflammatory bowel diseases (IBD) are particularly common among the Ashkenazi Jewish (AJ) population. Population-specific estimates of familial risk are important for counseling; however, relatively small cohorts of AJ IBD patients have been analyzed for familial risk to date. This study aimed to recruit a new cohort of AJ IBD patients, mainly from the UK, to determine the familial occurrence of disease.MethodsA total of 864 AJ IBD patients were recruited through advertisements, hospital clinics, and primary care. Participants were interviewed about their Jewish ancestry, disease phenotype, age of diagnosis, and family history of disease. Case notes were reviewed.ResultsThe 864 probands comprised 506 sporadic and 358 familial cases, the latter with a total of 625 affected relatives. Of the UK cases, 40% had a positive family history with 25% having at least one affected first-degree relative. These percentages were lower among those recruited through hospital clinics and primary care (33% for all relatives and 22% among first-degree relatives). Examining all probands, the relative risk of IBD for offspring, siblings, and parents was 10.5, 7.4, and 4, respectively. Age of diagnosis was significantly lower in familial versus sporadic patients with Crohn’s disease.ConclusionsThis study reports familial risk estimates for a significant proportion of the AJ IBD population in the UK. The high rate of a positive family history in this cohort may reflect the greater genetic burden for IBD among AJs. These data are of value in predicting the likelihood of future recurrence of IBD in AJ families.

Rare variants are thought to contribute to the genetics of inflammatory bowel disease (IBD), which is more common amongst the Ashkenazi Jewish (AJ) population. A family-based approach using exome sequencing of AJ individuals with IBD was employed with a view to identify novel rare genetic variants for this disease. Exome sequencing was performed on 960 Jewish individuals including 513 from 199 multiplex families with up to eight cases. Rare, damaging variants in loci prioritized by linkage analysis and those shared by multiple affected individuals within the same family were identified. Independent evidence of association of each variant with disease was assessed. A number of candidate variants were identified, including in genes involved in the immune system. The ability to achieve statistical significance in independent case/control replication data was limited by power and was only achieved for variants in the well-established Crohn’s disease gene, NOD2. This work demonstrates the challenges of identifying disease-associated rare damaging variants from exome data, even amongst a favorable cohort of familial cases from a genetic isolate. Further research of the prioritized rare candidate variants is required to confirm their association with the disease.Electronic supplementary materialThe online version of this article (10.1007/s00439-018-1927-7) contains supplementary material, which is available to authorized users.

Retrieval of these stents can be challenging and requires utilisation of various endoscopic grasping devices. With increasing use of ERCP and biliary stents this is being encountered more frequently. Most stents can be retrieved with conventional grasping devices like stent grabbers or biopsy forceps. However, some case may require the use of novel through the cholangioscope devices.We present a 37-year-old lady who presented with choledocholithiasis and 4 conventional ERCPs were not successful in clearing the CBD stones. At spy glass cholangiscopy we discovered a proximally migrated biliary stent. This video demonstrates a novel technique to retrieve the migrated biliary stent.

No abstract