IL-2 Enhances Gut Homing Potential of Human Naive Regulatory T Cells Early in Life.

Recent evidence suggests early environmental factors are important for gut immune tolerance. Although the role of regulatory T (Treg) cells for gut immune homeostasis is well established, the development and tissue homing characteristics of Treg cells in children have not been studied in detail. In this article, we studied the development and homing characteristics of human peripheral blood Treg cell subsets and potential mechanisms inducing homing molecule expression in healthy children.

Pediatric-to-adult Transition and Medication Adherence in Patients with Inflammatory Bowel Disease.

Background: Medication nonadherence is common in inflammatory bowel disease and is associated with poor outcomes. There has been no study on pediatric-to-adult transition as a risk factor for nonadherence in inflammatory bowel disease, which has been demonstrated in other diseases. We aimed to assess whether transitioned (TR) patients have higher nonadherence rates than young adults (YAs) diagnosed in adulthood.

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Background & Aims: Severe forms of inflammatory bowel disease (IBD) that develop in very young children can be caused by variants in a single gene. We performed whole-exome sequence (WES) analysis to identify genetic factors that might cause granulomatous colitis and severe perianal disease, with recurrent bacterial and viral infections, in an infant of consanguineous parents.

Methods: We performed targeted WES analysis of DNA collected from the patient and her parents.

IL-10 Potentiates Differentiation of Human Induced Regulatory T Cells via STAT3 and Foxo1.

Foxp3(+) regulatory T cells (Tregs) play essential roles in maintaining the immune balance. Although the majority of Tregs are formed in the thymus, increasing evidence suggests that induced Tregs (iTregs) may be generated in the periphery from naive cells. However, unlike in the murine system, significant controversy exists regarding the suppressive capacity of these iTregs in humans, especially those generated in vitro in the presence of TGF-β.

Raised tacrolimus level and acute renal injury associated with acute gastroenteritis in a child receiving local rectal tacrolimus.

Local rectal application of tacrolimus in distal colitis, pouchitis and perianal Crohn's disease has previously been reported to be both effective and safe. We report a patient treated with per rectum local application of tacrolimus, who developed toxic levels of tacrolimus and acute renal injury during an episode of acute gastroenteritis. This case illustrates that local application of tacrolimus, although usually safe, may be associated with significantly raised tacrolimus levels and acute renal injury during acute gastroenteritis.

Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease.

Background And Aims: Defects in the interleukin 10 (IL-10) signalling pathway have been shown to cause very early onset inflammatory bowel disease (IBD). We report a patient with severe infantile-onset IBD with a compound heterozygous IL-10 receptor alpha subunit (IL-10RA) mutation, one of which was paternally-inherited and the other occurring de novo.

Methods: Deep sequencing of IL-10, IL-10RA and IL-10 receptor beta subunit (IL-10RB) were performed.

Prophylactic gastrectomy in a 16-year-old.

We performed a total gastrectomy in a 16-year-old asymptomatic CDH1 gene mutation carrier in whom two prior gastroscopies with biopsies were normal. The patient's mother died aged 39 years and her aunt died aged 21 years of gastric cancer. A germline CDH1 mutation (associated with hereditary diffuse gastric cancer) was initially identified in her mother at diagnosis and was later identified by predictive testing in this patient.

A prospective comparative pilot study comparing the urine collection pad with clean catch urine technique in non-toilet-trained children.

Introduction: There are many different methods for collecting urine from paediatric patients in emergency departments. Therefore, the aims of the study were to:

Methods: The three month study was a prospective non-randomised comparative paediatric pilot study. A purposeful sample of children, requiring a urine microscopy for clinical management, presenting to one district emergency department was enrolled in the study to compare two non-invasive techniques of urine collection.

Rectal juvenile polyp detected on (99m)Tc-pertechnetate abdominal scintigraphy (Meckel scan).

An 8-year-old boy presented with first episode of rectal bleeding. Initial hemoglobin was 9 g/dL. A Meckel scan showed a hyperemic focus in the lower pelvis.

Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence.

Familial multiple lipomatosis is rare. Several modes of inheritance have been proposed but no conclusive evidence shown, although some families have suggested autosomal dominant inheritance. The authors describe a family with multiple lipomatosis showing clear autosomal dominant inheritance, and no mutations within the NF1, SPRED1 or Cowden disease (PTEN) genes.