<?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%">Pastore, Serena</style></author><author><style face="normal" font="default" size="100%">Ferrara, Giovanna</style></author><author><style face="normal" font="default" size="100%">Monasta, Lorenzo</style></author><author><style face="normal" font="default" size="100%">Meini, Antonella</style></author><author><style face="normal" font="default" size="100%">Cattalini, Marco</style></author><author><style face="normal" font="default" size="100%">Martino, Silvana</style></author><author><style face="normal" font="default" size="100%">Alessio, Maria</style></author><author><style face="normal" font="default" size="100%">La Torre, Francesco</style></author><author><style face="normal" font="default" size="100%">Teruzzi, Barbara</style></author><author><style face="normal" font="default" size="100%">Gerloni, Valeria</style></author><author><style face="normal" font="default" size="100%">Breda, Luciana</style></author><author><style face="normal" font="default" size="100%">Taddio, Andrea</style></author><author><style face="normal" font="default" size="100%">Lepore, Loredana</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Chronic nonbacterial osteomyelitis may be associated with renal disease and bisphosphonates are a good option for the majority of patients.</style></title><secondary-title><style face="normal" font="default" size="100%">Acta Paediatr</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Acta Paediatr.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2016</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2016 Jul</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">105</style></volume><pages><style face="normal" font="default" size="100%">e328-33</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;AIM: &lt;/b&gt;The aim of this Italian study was to describe the clinical features, treatment options and outcomes of a cohort of patients with chronic nonbacterial osteomyelitis (CNO).&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;This was a retrospective cohort study. Laboratory data, diagnostic imaging, histological features and clinical course are reported.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We enrolled 47 patients diagnosed with CNO. Bone pain was the leading symptom, and multifocal disease was present in 87% of the patients. The majority of the bone lesions were located in the appendicular skeleton (58%). Extraosseous manifestations were present in 34% of the patients, and renal involvement was detected in four patients. Inflammatory indices were increased in 80%, and bone x-rays were negative in 15% of the patients. Nonsteroidal anti-inflammatory drugs (NSAIDs) were the first therapy for all patients, achieving clinical remission in 27%. A good response to NSAIDs was significantly associated with a better prognosis. Bisphosphonates were used in 26 patients, with remission in 73%. Only six patients (13%), all with spine involvement, developed sequelae.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;We found a possible association between CNO and renal disease. Bisphosphonates were more likely to lead to clinical remission when NSAIDs and corticosteroids had failed. Vertebral localisation was the only risk factor for potential sequelae.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">7</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/27059298?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%">Cancrini, Caterina</style></author><author><style face="normal" font="default" size="100%">Puliafito, Pamela</style></author><author><style face="normal" font="default" size="100%">Digilio, Maria Cristina</style></author><author><style face="normal" font="default" size="100%">Soresina, Annarosa</style></author><author><style face="normal" font="default" size="100%">Martino, Silvana</style></author><author><style face="normal" font="default" size="100%">Rondelli, Roberto</style></author><author><style face="normal" font="default" size="100%">Consolini, Rita</style></author><author><style face="normal" font="default" size="100%">Ruga, Ezia Maria</style></author><author><style face="normal" font="default" size="100%">Cardinale, Fabio</style></author><author><style face="normal" font="default" size="100%">Finocchi, Andrea</style></author><author><style face="normal" font="default" size="100%">Romiti, Maria Luisa</style></author><author><style face="normal" font="default" size="100%">Martire, Baldassarre</style></author><author><style face="normal" font="default" size="100%">Bacchetta, Rosa</style></author><author><style face="normal" font="default" size="100%">Albano, Veronica</style></author><author><style face="normal" font="default" size="100%">Carotti, Adriano</style></author><author><style face="normal" font="default" size="100%">Specchia, Fernando</style></author><author><style face="normal" font="default" size="100%">Montin, Davide</style></author><author><style face="normal" font="default" size="100%">Cirillo, Emilia</style></author><author><style face="normal" font="default" size="100%">Cocchi, Guido</style></author><author><style face="normal" font="default" size="100%">Trizzino, Antonino</style></author><author><style face="normal" font="default" size="100%">Bossi, Grazia</style></author><author><style face="normal" font="default" size="100%">Milanesi, Ornella</style></author><author><style face="normal" font="default" size="100%">Azzari, Chiara</style></author><author><style face="normal" font="default" size="100%">Corsello, Giovanni</style></author><author><style face="normal" font="default" size="100%">Pignata, Claudio</style></author><author><style face="normal" font="default" size="100%">Aiuti, Alessandro</style></author><author><style face="normal" font="default" size="100%">Pietrogrande, Maria Cristina</style></author><author><style face="normal" font="default" size="100%">Marino, Bruno</style></author><author><style face="normal" font="default" size="100%">Ugazio, Alberto Giovanni</style></author><author><style face="normal" font="default" size="100%">Plebani, Alessandro</style></author><author><style face="normal" font="default" size="100%">Rossi, Paolo</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Italian Network for Primary Immunodeficiencies</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Clinical features and follow-up in patients with 22q11.2 deletion syndrome.</style></title><secondary-title><style face="normal" font="default" size="100%">J Pediatr</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Pediatr.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Abnormalities, Multiple</style></keyword><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Age Factors</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%">Chromosomes, Human, Pair 22</style></keyword><keyword><style  face="normal" font="default" size="100%">Delayed Diagnosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Developmental Disabilities</style></keyword><keyword><style  face="normal" font="default" size="100%">DiGeorge Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease Progression</style></keyword><keyword><style  face="normal" font="default" size="100%">Early Diagnosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Follow-Up Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Testing</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%">Infant, Newborn</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Monitoring, Physiologic</style></keyword><keyword><style  face="normal" font="default" size="100%">Prospective Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Retrospective Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Risk Assessment</style></keyword><keyword><style  face="normal" font="default" size="100%">Severity of Illness Index</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Time Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">164</style></volume><pages><style face="normal" font="default" size="100%">1475-80.e2</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 investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease.&lt;/p&gt;&lt;p&gt;&lt;b&gt;STUDY DESIGN: &lt;/b&gt;A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations (P = .015) and speech disorders (P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24657119?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%">Mazza, Cinzia</style></author><author><style face="normal" font="default" size="100%">Buzi, Fabio</style></author><author><style face="normal" font="default" size="100%">Ortolani, Federica</style></author><author><style face="normal" font="default" size="100%">Vitali, Alberto</style></author><author><style face="normal" font="default" size="100%">Notarangelo, Lucia D</style></author><author><style face="normal" font="default" size="100%">Weber, Giovanna</style></author><author><style face="normal" font="default" size="100%">Bacchetta, Rosa</style></author><author><style face="normal" font="default" size="100%">Soresina, Annarosa</style></author><author><style face="normal" font="default" size="100%">Lougaris, Vassilios</style></author><author><style face="normal" font="default" size="100%">Greggio, Nella A</style></author><author><style face="normal" font="default" size="100%">Taddio, Andrea</style></author><author><style face="normal" font="default" size="100%">Pasic, Srdjan</style></author><author><style face="normal" font="default" size="100%">de Vroede, Monique</style></author><author><style face="normal" font="default" size="100%">Pac, Malgorzata</style></author><author><style face="normal" font="default" size="100%">Kilic, Sara Sebnem</style></author><author><style face="normal" font="default" size="100%">Ozden, Sanal</style></author><author><style face="normal" font="default" size="100%">Rusconi, Roberto</style></author><author><style face="normal" font="default" size="100%">Martino, Silvana</style></author><author><style face="normal" font="default" size="100%">Capalbo, Donatella</style></author><author><style face="normal" font="default" size="100%">Salerno, Mariacarolina</style></author><author><style face="normal" font="default" size="100%">Pignata, Claudio</style></author><author><style face="normal" font="default" size="100%">Radetti, Giorgio</style></author><author><style face="normal" font="default" size="100%">Maggiore, Giuseppe</style></author><author><style face="normal" font="default" size="100%">Plebani, Alessandro</style></author><author><style face="normal" font="default" size="100%">Notarangelo, Luigi D</style></author><author><style face="normal" font="default" size="100%">Badolato, Raffaele</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.</style></title><secondary-title><style face="normal" font="default" size="100%">Clin Immunol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Clin. Immunol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</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%">Heterozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Polyendocrinopathies, Autoimmune</style></keyword><keyword><style  face="normal" font="default" size="100%">Time Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</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%">139</style></volume><pages><style face="normal" font="default" size="100%">6-11</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails. We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy. We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease. Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2 years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/21295522?dopt=Abstract</style></custom1></record></records></xml>