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IFI16 encodes a nucleic acid-sensor which detects latent EBV and triggers inflammasome activation. We analysed IFI16 variants in two multiple sclerosis (MS) case-control cohorts from Italy and Spain; results were combined with a previous study. A risk variant for celiac disease/rheumatoid arthritis, a polymorphic exon 7 duplication, and a copy number variant (CNV) in the 5' region were genotyped. No significant association was detected, although heterogeneity was noted for the 5' CNV in the Italian plus GeneMSA cohorts and the Spanish sample. Thus, IFI16 variants do not contribute to MS susceptibility, although some heterogeneity may exist for the 5' CNV., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Background: Eosinophilic oesophagitis has emerged as a common cause of oesophageal symptoms., Aims: To document practice variation in care provided to eosinophilic oesophagitis patients in Spain and to assess adherence to available guidelines., Methods: A prospective survey-based registry including data from all patients receiving care from gastroenterologists and allergists throughout Spain was developed., Results: Data from 705 patients (82% adults, male:female ratio 4.1:1) were collected from 26 Spanish hospitals. 42.7% received care in teaching hospitals. Adults presented dysphagia and food impaction more frequently; vomiting and weight loss predominated in children (p < 0.01). A mean diagnostic delay of 54.7 and 28.04 months was documented for adults and children, respectively. Normal endoscopic exams were reported in 27.6% and directly related to the experience in managing the disease (p < 0.05). Paediatric patients, non-teaching hospitals and greater experience in managing eosinophilic oesophagitis were associated with increased frequency in eosinophil count reports and with taking gastric and duodenal biopsies (p < 0.001). Initial therapy consisted of topical steroids (61.7% of patients), proton pump inhibitors (52.4%), dietary modifications (51.26%) and endoscopic dilation (7.2%). Referrals to allergy units occurred more frequently in teaching hospitals (p = 0.003) where food restrictions generally followed allergy test results (p < 0.001)., Conclusions: Availability of facilities and the physician's experience constituted the most important factors in explaining differences in patient management., (Copyright © 2013 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)