<?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%">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%">Olivito, Biagio</style></author><author><style face="normal" font="default" size="100%">Taddio, Andrea</style></author><author><style face="normal" font="default" size="100%">Simonini, Gabriele</style></author><author><style face="normal" font="default" size="100%">Massai, Cristina</style></author><author><style face="normal" font="default" size="100%">Ciullini, Sara</style></author><author><style face="normal" font="default" size="100%">Gambineri, Eleonora</style></author><author><style face="normal" font="default" size="100%">de Martino, Maurizio</style></author><author><style face="normal" font="default" size="100%">Azzari, Chiara</style></author><author><style face="normal" font="default" size="100%">Cimaz, Rolando</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Defective FOXP3 expression in patients with acute Kawasaki disease and restoration by intravenous immunoglobulin therapy.</style></title><secondary-title><style face="normal" font="default" size="100%">Clin Exp Rheumatol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Clin. Exp. Rheumatol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Acute Disease</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%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Flow Cytometry</style></keyword><keyword><style  face="normal" font="default" size="100%">Forkhead Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunoglobulins, Intravenous</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mucocutaneous Lymph Node Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Reverse Transcriptase Polymerase Chain Reaction</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Messenger</style></keyword><keyword><style  face="normal" font="default" size="100%">T-Lymphocytes, Regulatory</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2010 Jan-Feb</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">28</style></volume><pages><style face="normal" font="default" size="100%">93-7</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;OBJECTIVES: &lt;/b&gt;The aims of this study were: 1) to investigate forkhead box P3 (FOXP3) expression in patients with Kawasaki disease (KD), exploring possible differences during the acute phase and after defervescence; 2) to evaluate a possible association of the FOXP3 single nucleotide polymorphism (SNP) 543 (SNP ID: rs2232367) with KD.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;FOXP3 expression was evaluated on 8 children with KD and 15 healthy children by flow cytometry and Real-Time polymerase chain reaction (RT-PCR). FOXP3 SNP 543 was genotyped by denaturing high-performance liquid chromatography (DHPLC) and sequencing on DNA samples from 58 additional children with KD and 114 healthy donors.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The frequencies of CD4+CD25 +FOXP3+ regulatory T cells were significantly (p=0.0002) lower during the acute phase of KD than in sex- and age-matched healthy donors (median % + SD: 4.8+/-1.3 vs. 7.7+/-1.7) and a similar tendency was revealed for FOXP3 mRNA transcripts (p&lt;0.0001). FOXP3 expression increased significantly, at both protein and mRNA levels, after intravenous immunoglobulin (IVIG) therapy treatment and achieving complete remission of disease (at least 48 hrs; median 9.5 days, range 2-30). Of the 58 patients screened, only one female subject (1.7%) carried the presence of 543 SNP in heterozygosis (C&gt;T; for a total of 1 allele out of 88), with no difference between KD patients and controls (0.0%, 0/203 alleles).&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Our data reinforce the notion of an impaired immunoregulation in KD, suggesting also a role of IVIG treatment in modifying the Treg compartment. FOXP3 SNP 543 does not seem to be involved in susceptibility to KD in Italian children.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1 Suppl 57</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/20412712?dopt=Abstract</style></custom1></record></records></xml>