<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Pontillo, Alessandra</style></author><author><style face="normal" font="default" size="100%">Di Toro, Nicola</style></author><author><style face="normal" font="default" size="100%">Edomi, Paolo</style></author><author><style face="normal" font="default" size="100%">Shadlow, A</style></author><author><style face="normal" font="default" size="100%">Ammadeo, A</style></author><author><style face="normal" font="default" size="100%">Gattorno, M</style></author><author><style face="normal" font="default" size="100%">Not, T</style></author><author><style face="normal" font="default" size="100%">Lepore, L</style></author><author><style face="normal" font="default" size="100%">Crovella, S</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Anti-α-enolase Antibodies in Serum from Pediatric Patients Affected by Inflammatory Diseases: Diagnostic and Pathogenetic Insights.</style></title><secondary-title><style face="normal" font="default" size="100%">Int J Rheumatol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Int J Rheumatol</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2011</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2011</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">2011</style></volume><pages><style face="normal" font="default" size="100%">870214</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Human glycolytic enzyme α-enolase was associated with human diseases and with inflammation. An ELISA test was developed to measure anti-α-enolase AAE IgG and AAE IgA in the serum from patients affected by inflammatory diseases with the purpose to evaluate it as a novel diagnostic marker. 80 healthy blood donors and 194 paediatric patients affected by Juvenile idiopathic arthritis (JIA), celiac disease (CD), Crohn's Disease (CrD), hereditary periodic fever (HPF), and PFAPA syndrome were included in the study. HPF patients showed high levels of AAE antibodies, whereas JIA, CD, and CrD presented only partial results. Benign fevers such as PFAPA were almost negative for AAE Abs. These findings suggested that the genetic dysfunction of inflammasome associated with HPF could lead to the formation of AAE Abs that could be used for an early and easy diagnosis.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22007226?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Pelagatti, M A</style></author><author><style face="normal" font="default" size="100%">Meini, A</style></author><author><style face="normal" font="default" size="100%">Caorsi, R</style></author><author><style face="normal" font="default" size="100%">Cattalini, M</style></author><author><style face="normal" font="default" size="100%">Federici, S</style></author><author><style face="normal" font="default" size="100%">Zulian, F</style></author><author><style face="normal" font="default" size="100%">Calcagno, G</style></author><author><style face="normal" font="default" size="100%">Tommasini, A</style></author><author><style face="normal" font="default" size="100%">Bossi, G</style></author><author><style face="normal" font="default" size="100%">Sormani, M P</style></author><author><style face="normal" font="default" size="100%">Caroli, F</style></author><author><style face="normal" font="default" size="100%">Plebani, A</style></author><author><style face="normal" font="default" size="100%">Ceccherini, I</style></author><author><style face="normal" font="default" size="100%">Martini, A</style></author><author><style face="normal" font="default" size="100%">Gattorno, M</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene.</style></title><secondary-title><style face="normal" font="default" size="100%">Arthritis Rheum</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Arthritis Rheum.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Antirheumatic Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Biological Therapy</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Familial Mediterranean Fever</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Fever</style></keyword><keyword><style  face="normal" font="default" size="100%">Follow-Up Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Health Surveys</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Interleukin 1 Receptor Antagonist Protein</style></keyword><keyword><style  face="normal" font="default" size="100%">Longitudinal Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Lymphadenitis</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Pharyngitis</style></keyword><keyword><style  face="normal" font="default" size="100%">Quality of Life</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, Tumor Necrosis Factor</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, Tumor Necrosis Factor, Type I</style></keyword><keyword><style  face="normal" font="default" size="100%">Recurrence</style></keyword><keyword><style  face="normal" font="default" size="100%">Retrospective Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Steroids</style></keyword><keyword><style  face="normal" font="default" size="100%">Syndrome</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2011</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2011 Apr</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">63</style></volume><pages><style face="normal" font="default" size="100%">1141-50</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;OBJECTIVE: &lt;/b&gt;To analyze the long-term impact of the R92Q mutation of TNFRSF1A in children with periodic fever, in comparison with children with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with TNFRSF1A structural mutations and children with periodic fever of unknown origin fulfilling the criteria for periodic fever, aphthosis, pharyngitis, and adenitis syndrome (PFAPA).&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;The extracellular region of TNFRSF1A was analyzed in 720 consecutive children with periodic fever, using denaturing high-performance liquid chromatography and DNA sequencing. Followup data on 11 pediatric patients with TNFRSF1A structural mutations (cysteine or T50M), 23 pediatric patients with an R92Q substitution, and 64 pediatric patients with PFAPA were collected during routine clinic visits. The 50-item Child Health Questionnaire was used to assess health-related quality of life (HRQOL).&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The frequency of typical TRAPS-related clinical manifestations was significantly lower and the impact of the disease on HRQOL was significantly reduced in patients with the R92Q mutation compared with TRAPS patients carrying structural mutations of TNFRSF1A. Followup data on 11 TRAPS patients with TNFRSF1A structural mutations (mean followup 7.9 years), 16 patients with theR92Q substitution (mean followup 7.3 years), and 64 patients with PFAPA (mean followup 5.2 years) were available. Patients with R92Q mutations and patients with PFAPA displayed a higher rate of self-resolution or amelioration of the fever episodes than did TRAPS patients with structural mutations.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;Although some cases may progress to a more chronic disease course, the majority of children with an R92Q mutation of the TNFRSFA1 gene show a milder disease course than that in children with TNFRSFA1 structural mutations and have a high rate of spontaneous resolution and amelioration of the recurrent fever episodes.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/21225694?dopt=Abstract</style></custom1></record></records></xml>