Background and AimsAn expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.MethodsA total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally.ResultsMolecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES.ConclusionsOur results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.

Procalcitonin is better than CRP, WBC, and ANC to confirm or dismiss the presence of an IBI in infants aged younger than 3 months presenting with FWS to the ED. However, it could not identify almost 30% of infants with IBI. Most patients diagnosed with IBI (10 of 11) presented abnormal values in at least one of the analytical parameters and/or physical appearance. Four of 5 patients with IBI and well appearing presented abnormal results in at least one of the analytical parameters. Therefore, the development of tools combining different tests including the new biomarkers could increase the reliability of the tests for the diagnosis of IBI in these patients.

Objectives: The aim of the study was to describe the experience with teduglutide of several Spanish hospitals in pediatric patients with SBS (SBS). Methods: Seventeen pediatric patients with intestinal failure associated with SBS were treated with teduglutide. Patients received 0.05 mg · kg−1 · day−1 of subcutaneous teduglutide. Patients’ demographics and changes in parenteral nutrition (PN) needs, fecal losses, and citrulline level initially and at 3, 6, and 12 months were collected, as well as any adverse events. Results: Patients were receiving 55 ml · kg−1 · day−1 and 33 kcal · kg−1 · day−1 of parenteral supplementation on average at baseline (2 patients received only hydroelectrolytic solution). A total of 12/17 patients achieved parenteral independence: 3 patients after 3 months of treatment, 4 patients at 6 months, and 5 after 12 months. One patient discontinued treatment 1 year after the beginning as no changes in parenteral support or fecal losses were obtained. All others decreased their intravenous requirements by 50%. One patient suffered an episode of cholecystitis, and another one with a pre-existing cardiac disease, developed a cardiac decompensation. Conclusions: Teduglutide seems to be a safe and effective treatment in the pediatric SBS population with better results than in the pivotal study as well as in the adult population.

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We assessed the success rate of vancomycin catheter lock therapy (VLT) in combination with systemic antimicrobials in patients with staphylococcal catheter‐related bloodstream infection (C‐RBSI). Over a 6‐year period, we retrospectively collected clinical and microbiological data from patients with long‐term central venous catheters and staphylococcal C‐RBSI who were treated with systemic antimicrobials and VLT. We then assessed the success rate of VLT based on two criteria: 1) catheter retention time> 3 months and 2) catheter in place until end of use. We found 217 staphylococcal C‐RBSI episodes, 115 (53.0%) of which were managed with conservative therapy. Of these, 76 (66.1%) were treated with VLT (85.5% coagulase‐negative staphylococci and 14.5% Staphylococcus aureus). The success rate of VLT was 42.1% with criterion 1 and 71.1% with criterion 2. We did not find statistically significant differences between success and failure in the majority of the clinical data recorded. We only found differences for crude mortality in criterion 1 and for parenteral nutrition in criterion 2. The success of catheter retention using VLT was moderate, reaching slightly more than 70% when the catheter was kept in place until the end of use.

Pleural effusion secondary to vascular perforation and leakage of total parenteral nutrition (TPN) is a rare complication of central lines. We report such a case and urge physicians to familiarize with recognition and management of this rare complication as both TPN and central catheter lines are widely used techniques.