Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. Methods: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. Results: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. Conclusions: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.info:eu-repo/semantics/publishedVersio

Chronic granulomatous disease caused by a novel mutation in a 2-month-old boy with multifocal splenic abscesses.

International audienc

Chronic granulomatous disease caused by a novel mutation in a 2-month-old boy with multifocal splenic abscesses.

International audienc

Current position of atopy patch test in the diagnosis of food allergy in children.

Nova Science Publishers, Inc. New Yor

THERAPEUTIC APPROACH TO A CHILD WITH ACUTE RESPIRATORY DISTRESS SYNDROME: A REPORT OF TWO CASES

The course of a respiratory disorder in a child may end up in respiratory failure. There are also acute non-respiratory diseases which have a great influence on the respiratory functions and often lead to the acute lung injury and sometimes to the acute respiratory distress syndrome (ARDS). A feature of respiratory function deterioration is changed in the surfactant system. We often see inhibition of its synthesis or damage to its structure. Therapy of children suffering from ARDS should be complex and rapid. Despite many recently published studies explaining the principle of this disorder, the mortality of ARDS is still very high (30-50%). There are several studies documenting successful administration of exogenous surfactant as part of a complex combined therapy of patients with ARDS, which leads to decreased mortality, improved oxygenation, and decreased need for aggressive artificial pulmonary ventilation. The authors of this article present their own experience with administration of exogenous surfactant in therapy of children with ARDS