J Pediatr Gastroenterol Nutr
June 2022
Objectives: Over the last several decades, there has been a tendency towards a predominance of less symptomatic forms of coeliac disease (CD) and an increase in the patient age at diagnosis. This study aimed to assess the clinical presentation and diagnostic process of paediatric CD in Spain.
Methods: A nationwide prospective, observational, multicentre registry of new paediatric CD cases was conducted from January 2011 to June 2017.
Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by variants in FAS-mediated apoptosis related genes and is characterized by lymphadenopathy, splenomegaly and autoimmunity. A total of six different variants in CASP10 have been described as potential causative of disease, although two of them have recently been considered polymorphisms. The high allele frequency of these variants in healthy population in addition to the broad clinical spectrum of the disease difficult the interpretation of their pathogenicity.
View Article and Find Full Text PDFObjectives: This study aims to describe the clinical presentation and outcome of patients diagnosed with acute ileitis in our pediatric emergency department.
Methods: We performed a retrospective study of all patients diagnosed with terminal ileitis by abdominal ultrasonography findings in our pediatric emergency department, over the years 2013 and 2014. Patients with previous diagnosis of inflammatory bowel disease (IBD) were excluded.