<?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%">Marconi, Caterina</style></author><author><style face="normal" font="default" size="100%">Di Buduo, Christian A</style></author><author><style face="normal" font="default" size="100%">LeVine, Kellie</style></author><author><style face="normal" font="default" size="100%">Barozzi, Serena</style></author><author><style face="normal" font="default" size="100%">Faleschini, Michela</style></author><author><style face="normal" font="default" size="100%">Bozzi, Valeria</style></author><author><style face="normal" font="default" size="100%">Palombo, Flavia</style></author><author><style face="normal" font="default" size="100%">McKinstry, Spencer</style></author><author><style face="normal" font="default" size="100%">Lassandro, Giuseppe</style></author><author><style face="normal" font="default" size="100%">Giordano, Paola</style></author><author><style face="normal" font="default" size="100%">Noris, Patrizia</style></author><author><style face="normal" font="default" size="100%">Balduini, Carlo L</style></author><author><style face="normal" font="default" size="100%">Savoia, Anna</style></author><author><style face="normal" font="default" size="100%">Balduini, Alessandra</style></author><author><style face="normal" font="default" size="100%">Pippucci, Tommaso</style></author><author><style face="normal" font="default" size="100%">Seri, Marco</style></author><author><style face="normal" font="default" size="100%">Katsanis, Nicholas</style></author><author><style face="normal" font="default" size="100%">Pecci, Alessandro</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Loss-of-function mutations in  cause a new form of inherited thrombocytopenia.</style></title><secondary-title><style face="normal" font="default" size="100%">Blood</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Blood</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2019</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2019 Mar 21</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">133</style></volume><pages><style face="normal" font="default" size="100%">1346-1357</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet count that may result in bleeding tendency. Despite progress being made in defining the genetic causes of ITs, nearly 50% of patients with familial thrombocytopenia are affected with forms of unknown origin. Here, through exome sequencing of 2 siblings with autosomal-recessive thrombocytopenia, we identified biallelic loss-of-function variants in  This gene encodes for a receptor-like PTP, PTPRJ (or CD148), which is expressed abundantly in platelets and megakaryocytes. Consistent with the predicted effects of the variants, both probands have an almost complete loss of PTPRJ at the messenger RNA and protein levels. To investigate the pathogenic role of PTPRJ deficiency in hematopoiesis in vivo, we carried out CRISPR/Cas9-mediated ablation of  (the ortholog of human ) in zebrafish, which induced a significantly decreased number of CD41 thrombocytes in vivo. Moreover, megakaryocytes of our patients showed impaired maturation and profound defects in SDF1-driven migration and formation of proplatelets in vitro. Silencing of  in a human megakaryocytic cell line reproduced the functional defects observed in patients' megakaryocytes. The disorder caused by  mutations presented as a nonsyndromic thrombocytopenia characterized by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. These platelet functional defects could be attributed to reduced activation of Src family kinases. Taken together, our data identify a new form of IT and highlight a hitherto unknown fundamental role for PTPRJ in platelet biogenesis.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">12</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30591527?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%">Sung, Yun J</style></author><author><style face="normal" font="default" size="100%">Winkler, Thomas W</style></author><author><style face="normal" font="default" size="100%">de Las Fuentes, Lisa</style></author><author><style face="normal" font="default" size="100%">Bentley, Amy R</style></author><author><style face="normal" font="default" size="100%">Brown, Michael R</style></author><author><style face="normal" font="default" size="100%">Kraja, Aldi T</style></author><author><style face="normal" font="default" size="100%">Schwander, Karen</style></author><author><style face="normal" font="default" size="100%">Ntalla, Ioanna</style></author><author><style face="normal" font="default" size="100%">Guo, Xiuqing</style></author><author><style face="normal" font="default" size="100%">Franceschini, Nora</style></author><author><style face="normal" font="default" size="100%">Lu, Yingchang</style></author><author><style face="normal" font="default" size="100%">Cheng, Ching-Yu</style></author><author><style face="normal" font="default" size="100%">Sim, Xueling</style></author><author><style face="normal" font="default" size="100%">Vojinovic, Dina</style></author><author><style face="normal" font="default" size="100%">Marten, Jonathan</style></author><author><style face="normal" font="default" size="100%">Musani, Solomon K</style></author><author><style face="normal" font="default" size="100%">Li, Changwei</style></author><author><style face="normal" font="default" size="100%">Feitosa, Mary F</style></author><author><style face="normal" font="default" size="100%">Kilpeläinen, Tuomas O</style></author><author><style face="normal" font="default" size="100%">Richard, Melissa A</style></author><author><style face="normal" font="default" size="100%">Noordam, Raymond</style></author><author><style face="normal" font="default" size="100%">Aslibekyan, Stella</style></author><author><style face="normal" font="default" size="100%">Aschard, Hugues</style></author><author><style face="normal" font="default" size="100%">Bartz, Traci M</style></author><author><style face="normal" font="default" size="100%">Dorajoo, Rajkumar</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">Manning, Alisa K</style></author><author><style face="normal" font="default" size="100%">Rankinen, 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Rainer</style></author><author><style face="normal" font="default" size="100%">Schupf, Nicole</style></author><author><style face="normal" font="default" size="100%">Scott, Robert A</style></author><author><style face="normal" font="default" size="100%">Sheu, Wayne H H</style></author><author><style face="normal" font="default" size="100%">Stančáková, Alena</style></author><author><style face="normal" font="default" size="100%">Takeuchi, Fumihiko</style></author><author><style face="normal" font="default" size="100%">van der Most, Peter J</style></author><author><style face="normal" font="default" size="100%">Varga, Tibor V</style></author><author><style face="normal" font="default" size="100%">Wang, Heming</style></author><author><style face="normal" font="default" size="100%">Wang, Yajuan</style></author><author><style face="normal" font="default" size="100%">Ware, Erin B</style></author><author><style face="normal" font="default" size="100%">Weiss, Stefan</style></author><author><style face="normal" font="default" size="100%">Wen, Wanqing</style></author><author><style face="normal" font="default" size="100%">Yanek, Lisa R</style></author><author><style face="normal" font="default" size="100%">Zhang, Weihua</style></author><author><style face="normal" font="default" size="100%">Zhao, Jing Hua</style></author><author><style face="normal" font="default" size="100%">Afaq, Saima</style></author><author><style face="normal" font="default" size="100%">Alfred, Tamuno</style></author><author><style face="normal" font="default" size="100%">Amin, Najaf</style></author><author><style face="normal" font="default" size="100%">Arking, Dan</style></author><author><style face="normal" font="default" size="100%">Aung, Tin</style></author><author><style face="normal" font="default" size="100%">Barr, R Graham</style></author><author><style face="normal" font="default" size="100%">Bielak, Lawrence F</style></author><author><style face="normal" 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size="100%">Chauhan, Ganesh</style></author><author><style face="normal" font="default" size="100%">Christensen, Kaare</style></author><author><style face="normal" font="default" size="100%">Cocca, Massimiliano</style></author><author><style face="normal" font="default" size="100%">Collins, Francis S</style></author><author><style face="normal" font="default" size="100%">Connell, John M</style></author><author><style face="normal" font="default" size="100%">de Mutsert, Renée</style></author><author><style face="normal" font="default" size="100%">de Silva, H Janaka</style></author><author><style face="normal" font="default" size="100%">Debette, Stéphanie</style></author><author><style face="normal" font="default" size="100%">Dörr, Marcus</style></author><author><style face="normal" font="default" size="100%">Duan, Qing</style></author><author><style face="normal" font="default" size="100%">Eaton, Charles B</style></author><author><style face="normal" font="default" size="100%">Ehret, 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face="normal" font="default" size="100%">Gupta, Preeti</style></author><author><style face="normal" font="default" size="100%">Hagenaars, Saskia P</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">He, Jiang</style></author><author><style face="normal" font="default" size="100%">Heikkinen, Sami</style></author><author><style face="normal" font="default" size="100%">Heng, Chew-Kiat</style></author><author><style face="normal" font="default" size="100%">Hirata, Makoto</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Howard, Barbara V</style></author><author><style face="normal" font="default" size="100%">Hunt, Steven</style></author><author><style face="normal" font="default" size="100%">Irvin, Marguerite R</style></author><author><style face="normal" font="default" size="100%">Jia, Yucheng</style></author><author><style face="normal" font="default" size="100%">Joehanes, Roby</style></author><author><style face="normal" font="default" size="100%">Justice, Anne E</style></author><author><style face="normal" font="default" size="100%">Katsuya, Tomohiro</style></author><author><style face="normal" font="default" size="100%">Kaufman, Joel</style></author><author><style face="normal" font="default" size="100%">Kerrison, Nicola D</style></author><author><style face="normal" font="default" size="100%">Khor, Chiea Chuen</style></author><author><style face="normal" font="default" size="100%">Koh, Woon-Puay</style></author><author><style face="normal" font="default" size="100%">Koistinen, Heikki A</style></author><author><style face="normal" font="default" size="100%">Komulainen, Pirjo</style></author><author><style face="normal" font="default" size="100%">Kooperberg, Charles</style></author><author><style face="normal" font="default" size="100%">Krieger, Jose E</style></author><author><style face="normal" font="default" size="100%">Kubo, Michiaki</style></author><author><style face="normal" font="default" size="100%">Kuusisto, Johanna</style></author><author><style face="normal" font="default" size="100%">Langefeld, Carl D</style></author><author><style face="normal" font="default" size="100%">Langenberg, Claudia</style></author><author><style face="normal" font="default" size="100%">Launer, Lenore J</style></author><author><style face="normal" font="default" size="100%">Lehne, Benjamin</style></author><author><style face="normal" font="default" size="100%">Lewis, Cora E</style></author><author><style face="normal" font="default" size="100%">Li, Yize</style></author><author><style face="normal" font="default" size="100%">Lim, Sing Hui</style></author><author><style face="normal" font="default" size="100%">Lin, Shiow</style></author><author><style face="normal" font="default" size="100%">Liu, Ching-Ti</style></author><author><style 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face="normal" font="default" size="100%">Froguel, Philippe</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">Horta, Bernardo Lessa</style></author><author><style face="normal" font="default" size="100%">Hung, Yi-Jen</style></author><author><style face="normal" font="default" size="100%">Jonas, Jost B</style></author><author><style face="normal" font="default" size="100%">Kato, Norihiro</style></author><author><style face="normal" font="default" size="100%">Kooner, Jaspal S</style></author><author><style face="normal" font="default" size="100%">Laakso, Markku</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Liang, Kae-Woei</style></author><author><style face="normal" font="default" size="100%">Magnusson, Patrik K E</style></author><author><style face="normal" font="default" size="100%">Newman, Anne B</style></author><author><style face="normal" font="default" size="100%">Oldehinkel, Albertine J</style></author><author><style face="normal" font="default" size="100%">Pereira, Alexandre C</style></author><author><style face="normal" font="default" size="100%">Redline, Susan</style></author><author><style face="normal" font="default" size="100%">Rettig, Rainer</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh J</style></author><author><style face="normal" font="default" size="100%">Scott, James</style></author><author><style face="normal" font="default" size="100%">Shu, Xiao-Ou</style></author><author><style face="normal" font="default" size="100%">van der Harst, Pim</style></author><author><style face="normal" font="default" size="100%">Wagenknecht, Lynne E</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Watkins, Hugh</style></author><author><style face="normal" font="default" size="100%">Weir, David R</style></author><author><style face="normal" font="default" size="100%">Wickremasinghe, Ananda R</style></author><author><style face="normal" font="default" size="100%">Wu, Tangchun</style></author><author><style face="normal" font="default" size="100%">Zheng, Wei</style></author><author><style face="normal" font="default" size="100%">Kamatani, Yoichiro</style></author><author><style face="normal" font="default" size="100%">Laurie, Cathy C</style></author><author><style face="normal" font="default" size="100%">Bouchard, Claude</style></author><author><style face="normal" font="default" size="100%">Cooper, Richard S</style></author><author><style face="normal" font="default" size="100%">Evans, Michele K</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Kardia, Sharon L R</style></author><author><style face="normal" font="default" size="100%">Kritchevsky, Stephen B</style></author><author><style face="normal" font="default" size="100%">Levy, Daniel</style></author><author><style face="normal" font="default" size="100%">O'Connell, Jeff R</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">van Dam, Rob M</style></author><author><style face="normal" font="default" size="100%">Sims, Mario</style></author><author><style face="normal" font="default" size="100%">Arnett, Donna K</style></author><author><style face="normal" font="default" size="100%">Mook-Kanamori, Dennis O</style></author><author><style face="normal" font="default" size="100%">Kelly, Tanika N</style></author><author><style face="normal" font="default" size="100%">Fox, Ervin R</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Fornage, Myriam</style></author><author><style face="normal" font="default" size="100%">Rotimi, Charles N</style></author><author><style face="normal" font="default" size="100%">Province, Michael A</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Tai, E Shyong</style></author><author><style face="normal" font="default" size="100%">Wong, Tien Yin</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Reiner, Alex P</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Zhu, Xiaofeng</style></author><author><style face="normal" font="default" size="100%">Bierut, Laura J</style></author><author><style face="normal" font="default" size="100%">Gauderman, W James</style></author><author><style face="normal" font="default" size="100%">Caulfield, Mark J</style></author><author><style face="normal" font="default" size="100%">Elliott, Paul</style></author><author><style face="normal" font="default" size="100%">Rice, Kenneth</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Morrison, Alanna C</style></author><author><style face="normal" font="default" size="100%">Cupples, L Adrienne</style></author><author><style face="normal" font="default" size="100%">Rao, Dabeeru C</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">CHARGE Neurology Working Group</style></author><author><style face="normal" font="default" size="100%">COGENT-Kidney Consortium</style></author><author><style face="normal" font="default" size="100%">GIANT Consortium</style></author><author><style face="normal" font="default" size="100%">LifeLines Cohort Study</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Hum Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am. J. Hum. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Blood Pressure</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Continental Population Groups</style></keyword><keyword><style  face="normal" font="default" size="100%">Diastole</style></keyword><keyword><style  face="normal" font="default" size="100%">Epistasis, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Reproducibility of Results</style></keyword><keyword><style  face="normal" font="default" size="100%">Smoking</style></keyword><keyword><style  face="normal" font="default" size="100%">Systole</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 03 01</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">102</style></volume><pages><style face="normal" font="default" size="100%">375-400</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Genome-wide association analysis advanced understanding of blood pressure (BP), a major risk factor for vascular conditions such as coronary heart disease and stroke. Accounting for smoking behavior may help identify BP loci and extend our knowledge of its genetic architecture. We performed genome-wide association meta-analyses of systolic and diastolic BP incorporating gene-smoking interactions in 610,091 individuals. Stage 1 analysis examined ∼18.8 million SNPs and small insertion/deletion variants in 129,913 individuals from four ancestries (European, African, Asian, and Hispanic) with follow-up analysis of promising variants in 480,178 additional individuals from five ancestries. We identified 15 loci that were genome-wide significant (p &lt; 5 × 10) in stage 1 and formally replicated in stage 2. A combined stage 1 and 2 meta-analysis identified 66 additional genome-wide significant loci (13, 35, and 18 loci in European, African, and trans-ancestry, respectively). A total of 56 known BP loci were also identified by our results (p &lt; 5 × 10). Of the newly identified loci, ten showed significant interaction with smoking status, but none of them were replicated in stage 2. Several loci were identified in African ancestry, highlighting the importance of genetic studies in diverse populations. The identified loci show strong evidence for regulatory features and support shared pathophysiology with cardiometabolic and addiction traits. They also highlight a role in BP regulation for biological candidates such as modulators of vascular structure and function (CDKN1B, BCAR1-CFDP1, PXDN, EEA1), ciliopathies (SDCCAG8, RPGRIP1L), telomere maintenance (TNKS, PINX1, AKTIP), and central dopaminergic signaling (MSRA, EBF2).&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29455858?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%">Guerriero, Stefano</style></author><author><style face="normal" font="default" size="100%">Pascual, M Angela</style></author><author><style face="normal" font="default" size="100%">Ajossa, Silvia</style></author><author><style face="normal" font="default" size="100%">Rodriguez, Ignacio</style></author><author><style face="normal" font="default" size="100%">Zajicek, Michal</style></author><author><style face="normal" font="default" size="100%">Rolla, Martino</style></author><author><style face="normal" font="default" size="100%">Rams, Noelia Llop</style></author><author><style face="normal" font="default" size="100%">Yulzari, Vered</style></author><author><style face="normal" font="default" size="100%">Bardin, Ron</style></author><author><style face="normal" font="default" size="100%">Buonomo, Francesca</style></author><author><style face="normal" font="default" size="100%">Comparetto, Ornella</style></author><author><style face="normal" font="default" size="100%">Perniciano, Maura</style></author><author><style face="normal" font="default" size="100%">Saba, Luca</style></author><author><style face="normal" font="default" size="100%">Mais, Valerio</style></author><author><style face="normal" font="default" size="100%">Alcazar, Juan Luis</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Learning curve for the ultrasonographic diagnosis of deep endometriosis using a structured off-line training program.</style></title><secondary-title><style face="normal" font="default" size="100%">Ultrasound Obstet Gynecol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Ultrasound Obstet Gynecol</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 Nov 13</style></date></pub-dates></dates><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;The aim of the present study was to assess the learning curves of trainees during a structured off-line/hands-on training program on the diagnosis of deep infiltrating endometriosis (DIE).&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;A two-week training program was conducted. One day was devoted to theoretical issues and guided off-line analysis of 10 volumes of three-dimensional (3D) ultrasound. During the following days, five sessions of real-time sonographic examinations were performed in a DIE referral center Ultrasound unit. In between sessions, the trainees analyzed four off-line sets, containing twenty-five 3D volumes each. At the end of each set, misinterpreted volumes were assessed with the trainer. One trainer and 4 trainees (all post-graduated Ob/Gyn with at least 5 years of experience in ultrasonography in Obstetrics and Gynecology but with no experience in DIE sonographic examinations) participated in the study. Presence or absence of DIE at surgery was considered as gold standard for the trainees. Trainee's results were evaluated by learning curve cumulative summation (LC-CUSUM) and the deviations of the level of trainees' performance at the control stage by CUSUM (standard CUSUM) for different locations of DIE.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The trainees reached competence on average after 17 evaluations (range 21-14) for bladder locations, after 39 evaluations (range 60-30) for rectosigmoid locations, after 25 evaluations (range 34-14) for forniceal locations, after 44 evaluations (range 66-25) for utero-sacral locations (USL), after 21 evaluations (range 43-14) for rectovaginal septum (RVS) locations respectively, and kept the process under control with error levels of less than 4.5% until the end of the test. The overall accuracy for each trainee at the different locations ranged from 0.91 to 0.96 for bladder DIE, from 0.80 to 0.94 for recto-sigmoid DIE, from 0.90 to 0.94% for forniceal DIE, from 0.79 to 0.82 for utero-sacral ligaments DIE and from 0.89 to 0.97 for recto-vaginal septum DIE.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;The suggested two-weeks learning program based on a mix of off-line and live sessions is feasible and suggests a good performance in training for the diagnosis of DIE. This article is protected by copyright. All rights reserved.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30426587?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%">Pomicino, Laura</style></author><author><style face="normal" font="default" size="100%">Maccacari, Elena</style></author><author><style face="normal" font="default" size="100%">Buchini, Sara</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Levels of anxiety in parents in the 24 hr before and after their child's surgery: A descriptive study.</style></title><secondary-title><style face="normal" font="default" size="100%">J Clin Nurs</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J Clin Nurs</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adaptation, Psychological</style></keyword><keyword><style  face="normal" font="default" size="100%">Anxiety</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Longitudinal Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Parents</style></keyword><keyword><style  face="normal" font="default" size="100%">Perioperative Period</style></keyword><keyword><style  face="normal" font="default" size="100%">Surgical Procedures, Operative</style></keyword><keyword><style  face="normal" font="default" size="100%">Surveys and Questionnaires</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 Jan</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">27</style></volume><pages><style face="normal" font="default" size="100%">278-287</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;AIMS AND OBJECTIVES: &lt;/b&gt;To (i) investigate pre- and postoperative anxiety levels in parents of surgical patients; (ii) identify factors that affect parental anxiety; and (iii) analyse assistance provided and overall parental satisfaction to assess whether and how this aspect can impact their anxiety level.&lt;/p&gt;&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Surgery as an event generates anxiety in children and their parents. Children who are anxious before surgery are likely to develop more postoperative psychological and physiological complications than those who are not. The role parents play in influencing emotional states of their children has been well demonstrated. However, specific national programmes aimed at helping parents develop new models for coping are relatively inexistent in Italy.&lt;/p&gt;&lt;p&gt;&lt;b&gt;STUDY DESIGN: &lt;/b&gt;Longitudinal study.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;One hundred and one parents of children undergoing surgery at a healthcare facility in Padua, Italy, completed the Italian version of the State-Trait Anxiety Inventory Form Y questionnaire. They also answered questions about their parents' socio-demographic situation, the amount and quality of preoperative information received, assistance provided and their overall satisfaction with this information.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The preoperative level of anxiety in parents who were interviewed was higher than Italian normative data, especially in Pediatric Cardiac Surgery and Pediatric Urology departments. Mothers had a significantly higher level of anxiety than fathers. Communicating possible complications of surgical procedures increased anxiety, while providing information about pre- and postsurgery nutrition and pain management and providing local anaesthetic on children decreased parental anxiety. Parents expressed a sufficiently high level of satisfaction although they defined the hospital environment as uncomfortable.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Aspects of care that can make hospitalisation less traumatic for parents are as follows: greater support, involving them in the treatment process, improving hospital department admission procedures and providing thorough preoperative information.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RELEVANCE TO CLINICAL PRACTICE: &lt;/b&gt;Healthcare professionals are encouraged to pay attention to communication modalities providing detailed information to parents.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1-2</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28544343?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%">Pascolo, Lorella</style></author><author><style face="normal" font="default" size="100%">Venturin, Irene</style></author><author><style face="normal" font="default" size="100%">Gianoncelli, Alessandra</style></author><author><style face="normal" font="default" size="100%">Bortul, Roberta</style></author><author><style face="normal" font="default" size="100%">Zito, Gabriella</style></author><author><style face="normal" font="default" size="100%">Giolo, Elena</style></author><author><style face="normal" font="default" size="100%">Salomè, Murielle</style></author><author><style face="normal" font="default" size="100%">Bedolla, Diana E</style></author><author><style face="normal" font="default" size="100%">Altissimo, Matteo</style></author><author><style face="normal" font="default" size="100%">Zweyer, Marina</style></author><author><style face="normal" font="default" size="100%">Ricci, Giuseppe</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Light element distribution in fresh and frozen-thawed human ovarian tissues: a preliminary study.</style></title><secondary-title><style face="normal" font="default" size="100%">Reprod Biomed Online</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Reprod. Biomed. Online</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Cryopreservation</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Microscopy, Electron, Transmission</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Preservation</style></keyword><keyword><style  face="normal" font="default" size="100%">Ovarian Follicle</style></keyword><keyword><style  face="normal" font="default" size="100%">Ovary</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 08</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">37</style></volume><pages><style face="normal" font="default" size="100%">153-162</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;RESEARCH QUESTION: &lt;/b&gt;Does synchrotron X-ray fluorescence (XRF) provide novel chemical information for the evaluation of human ovarian tissue cryopreservation protocols?&lt;/p&gt;&lt;p&gt;&lt;b&gt;DESIGN: &lt;/b&gt;Tissues from five patients undergoing laparoscopic surgery for benign gynaecological conditions were fixed for microscopic analysis either immediately or after cryopreservation. After fixation, fresh and slowly frozen samples were selected by light microscopy and transmission electron microscopy, and subsequently analysed with synchrotron XRF microscopy at different incident energies.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The distributions of elements detected at 7.3 keV (S, P, K, Cl, Fe, and Os) and 1.5 keV (Na and Mg) were related to the changes revealed by light microscopy and transmission electron microscopy analyses. The light elements showed highly informative findings. The S distribution was found to be an indicator of extracellular component changes in the stromal tissues of the freeze-stored samples, further revealed by the transmission electron microscopy analyses. Low-quality follicles, frequent in the freeze-thawed tissues, showed a high Na level in the ooplasm. On the contrary, good-quality follicles were detected by a homogeneous Cl distribution. The occurrence of vacuolated follicles increased after cryopreservation, and the XRF analyses showed that the vacuolar structures contained mainly Cl and Na.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;The study demonstrates that elemental imaging techniques, particularly revealing the distribution of light elements, could be useful in establishing new cryopreservation protocols.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29802069?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%">De Rose, Domenico Umberto</style></author><author><style face="normal" font="default" size="100%">Giliani, Silvia</style></author><author><style face="normal" font="default" size="100%">Notarangelo, Lucia Dora</style></author><author><style face="normal" font="default" size="100%">Lougaris, Vassilios</style></author><author><style face="normal" font="default" size="100%">Lanfranchi, Arnalda</style></author><author><style face="normal" font="default" size="100%">Moratto, Daniele</style></author><author><style face="normal" font="default" size="100%">Martire, Baldassarre</style></author><author><style face="normal" font="default" size="100%">Specchia, Fernando</style></author><author><style face="normal" font="default" size="100%">Tommasini, Alberto</style></author><author><style face="normal" font="default" size="100%">Plebani, Alessandro</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%">Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.</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><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">191</style></volume><pages><style face="normal" font="default" size="100%">75-80</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Leukocyte Adhesion Deficiency type 1 (LAD-1) is a rare primary immunodeficiency due to mutations in the gene encoding for the common β-chain of the β2 integrin family (CD18). Herein, we describe clinical manifestations and long-term complications of eight LAD-1 patients. Four LAD-1 patients were treated with hematopoietic stem cell transplantation (HSCT), while the remaining four, including two with moderate LAD-1 deficiency, received continuous antibiotic prophylaxis. Untreated patients presented numerous infections and autoimmune manifestations. In particular, two of them developed renal and intestinal autoimmune diseases, despite the expression of Beta-2 integrin was partially conserved. Other two LAD-1 patients developed type 1 diabetes and autoimmune cytopenia after HSCT, suggesting that HSCT is effective for preventing infections in LAD-1, but does not prevent the risk of the autoimmune complications.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29548898?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%">Gratton, Rossella</style></author><author><style face="normal" font="default" size="100%">Tricarico, Paola Maura</style></author><author><style face="normal" font="default" size="100%">Guimarães, Rafael Lima</style></author><author><style face="normal" font="default" size="100%">Celsi, Fulvio</style></author><author><style face="normal" font="default" size="100%">Crovella, Sergio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lopinavir/Ritonavir Treatment Induces Oxidative Stress and Caspaseindependent Apoptosis in Human Glioblastoma U-87 MG Cell Line.</style></title><secondary-title><style face="normal" font="default" size="100%">Curr HIV Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Curr. HIV Res.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">16</style></volume><pages><style face="normal" font="default" size="100%">106-112</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;BACKGROUND: &lt;/b&gt;Lopinavir and Ritonavir (LPV/r) treatment is widely used to prevent HIV mother-to-child transmission. Nevertheless, studies related to the impact of these compounds on patients, in particular in the foetus and newborns, are strictly required due to the controversial findings reported in the literature concerning possible neurologic side effects following the administration of these drugs.&lt;/p&gt;&lt;p&gt;&lt;b&gt;OBJECTIVES: &lt;/b&gt;In our study, we evaluated the impact of LPV/r treatment on the human glioblastoma U- 87 MG cell line.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;In order to evaluate the influence of Lopinavir and Ritonavir in terms of oxidative stress (ROS production), mitochondrial morphology and apoptotic cell death, the latter either in the presence or in the absence of caspase-3 and -9 inhibitors, we treated U-87 MG with increasing doses (0.1-1-10-25-50 µM) of Lopinavir and Ritonavir for 24h, either in single formulation or in combination. ROS production was measured by flow cytometry using H2DCFDA dye, mitochondrial morphology was evaluated using MitoRed dye and apoptotic cell death was monitored by flow cytometry using Annexin V-FITC and Propidium Iodide.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We observed that co-treatment with Lopinavir and Ritonavir (25 and 50 µM) promoted a significant increase in ROS production, caused mitochondrial network damage and induced apoptosis in a caspase-independent manner.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;Based on our findings, concordant with others reported in the literature, we hypothesize that LPV/r treatment could not be entirely free from side effects, being aware of the need of validation in in vivo models, necessary to confirm our results.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29804534?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%">Nocerino, Agostino</style></author><author><style face="normal" font="default" size="100%">Valencic, Erica</style></author><author><style face="normal" font="default" size="100%">Loganes, Claudia</style></author><author><style face="normal" font="default" size="100%">Pelos, Giorgio</style></author><author><style face="normal" font="default" size="100%">Tommasini, Alberto</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection.</style></title><secondary-title><style face="normal" font="default" size="100%">Pediatr Int</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Pediatr Int</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Anti-Bacterial Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Autoimmune Lymphoproliferative Syndrome</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%">Dose-Response Relationship, Drug</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunosuppressive Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Otitis Media</style></keyword><keyword><style  face="normal" font="default" size="100%">Pneumonia, Bacterial</style></keyword><keyword><style  face="normal" font="default" size="100%">Sirolimus</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 Mar</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">60</style></volume><pages><style face="normal" font="default" size="100%">315-317</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29480551?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%">Tricarico, Paola Maura</style></author><author><style face="normal" font="default" size="100%">Romeo, Alessandra</style></author><author><style face="normal" font="default" size="100%">Gratton, Rossella</style></author><author><style face="normal" font="default" size="100%">Crovella, Sergio</style></author><author><style face="normal" font="default" size="100%">Celsi, Fulvio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.</style></title><secondary-title><style face="normal" font="default" size="100%">Cell Physiol Biochem</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Cell. Physiol. Biochem.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Apoptosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Autophagy</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Line, Tumor</style></keyword><keyword><style  face="normal" font="default" size="100%">Macrolides</style></keyword><keyword><style  face="normal" font="default" size="100%">Mevalonate Kinase Deficiency</style></keyword><keyword><style  face="normal" font="default" size="100%">Microtubule-Associated Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Models, Biological</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Phosphotransferases (Alcohol Group Acceptor)</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Prenylation</style></keyword><keyword><style  face="normal" font="default" size="100%">Rats</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">41</style></volume><pages><style face="normal" font="default" size="100%">1649-1660</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;BACKGROUND/AIMS: &lt;/b&gt;Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be fully elucidated. Deficiency of prenylated proteins has been hypothesized as possible MKD pathogenic mechanism. Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;SH-SY5Y cells were transiently transfected, with the pCMV-6 plasmid containing MVK wild type and the two mutated sequences. Protein prenylation levels were evaluated using GFP-RhoA-F to assess farnesylation, and GFP-RhoA to evaluate geranylgeranylation; autophagy was measured by evaluating LC3 and p62 protein levels, while Annexin V-FITC and Propidium Iodide staining allowed apoptosis detection.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;MVK mutants' over-expression causes decreased levels of farnesylation and geranylgeranylation, and also increased LC3 lipidation in SH-SY5Y, with concomitant p62 accumulation. Treatment with bafilomycin A1 (an inhibitor of vacuolar H+-ATPase, a late autophagy inhibitor) further increase LC3-II and p62 levels, suggesting that degradation of autophagolysosome could be impaired. SH-SY5Y, with both MVK mutants, showed apoptosis increase; the presence of N301T associated with augmented cell death.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;We hypothesize that mevalonate pathway impairment causes alteration of farnesylation and geranylgeranylation proteins and alteration of the autophagic flux; these changes can induce apoptosis, possibly more relevant in the presence of N301T mutation.&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/28359055?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%">Bembich, Stefano</style></author><author><style face="normal" font="default" size="100%">Fiani, Giulia</style></author><author><style face="normal" font="default" size="100%">Strajn, Tamara</style></author><author><style face="normal" font="default" size="100%">Sanesi, Cecilia</style></author><author><style face="normal" font="default" size="100%">Demarini, Sergio</style></author><author><style face="normal" font="default" size="100%">Sanson, Gianfranco</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Longitudinal Responses to Weighing and Bathing Procedures in Preterm Infants.</style></title><secondary-title><style face="normal" font="default" size="100%">J Perinat Neonatal Nurs</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J Perinat Neonatal Nurs</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Baths</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Weight</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant Behavior</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant Care</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant, Newborn</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant, Premature</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Neonatal Nursing</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Jan/Mar</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">31</style></volume><pages><style face="normal" font="default" size="100%">67-74</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Knowledge of the effects of nursing-induced stress on short-term outcomes in preterm infants is limited. Effects of 2 standard nursing procedures-weighing and bathing-on autonomic and motor stability of preterm infants were studied during their hospitalization. Outcomes were evaluated during and after the procedures. Eleven preterm infants were observed between 32 and 35 weeks' postmenstrual age (PMA) (postnatal days range: 4-63). Neonatal responses were assessed according to the Synactive Theory of Development and nursing was performed taking into account Newborn Individualized Developmental Care and Assessment Program (NIDCAP) principles. Effects of the studied nursing procedures on infants' stability during and after their execution were evaluated by nonparametric statistics. During monitored procedures, stress responses in autonomic and motor systems were observed at all PMAs. However, after 32 weeks' PMA, preterm infants also showed an autonomic and motor stability recovery 5 minutes after procedure completion. Contrary to our hypothesis, preterm infants showed to be stressed by weighing and bathing procedures up to 35 weeks' PMA. However, if facilitated and supported after nursing conclusion by interventions such as swaddling and nesting, according to NIDCAP principles, they recovered autonomic and motor stability by 5 minutes after ending procedures.&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/28121761?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%">Wolf, H</style></author><author><style face="normal" font="default" size="100%">Arabin, B</style></author><author><style face="normal" font="default" size="100%">Lees, C C</style></author><author><style face="normal" font="default" size="100%">Oepkes, D</style></author><author><style face="normal" font="default" size="100%">Prefumo, F</style></author><author><style face="normal" font="default" size="100%">Thilaganathan, B</style></author><author><style face="normal" font="default" size="100%">Todros, T</style></author><author><style face="normal" font="default" size="100%">Visser, G H A</style></author><author><style face="normal" font="default" size="100%">Bilardo, C M</style></author><author><style face="normal" font="default" size="100%">Derks, J B</style></author><author><style face="normal" font="default" size="100%">Diemert, A</style></author><author><style face="normal" font="default" size="100%">Duvekot, J J</style></author><author><style face="normal" font="default" size="100%">Ferrazzi, E</style></author><author><style face="normal" font="default" size="100%">Frusca, T</style></author><author><style face="normal" font="default" size="100%">Hecher, K</style></author><author><style face="normal" font="default" size="100%">Marlow, N</style></author><author><style face="normal" font="default" size="100%">Martinelli, P</style></author><author><style face="normal" font="default" size="100%">Ostermayer, E</style></author><author><style face="normal" font="default" size="100%">Papageorghiou, A T</style></author><author><style face="normal" font="default" size="100%">Scheepers, H C J</style></author><author><style face="normal" font="default" size="100%">Schlembach, D</style></author><author><style face="normal" font="default" size="100%">Schneider, K T M</style></author><author><style face="normal" font="default" size="100%">Valcamonico, A</style></author><author><style face="normal" font="default" size="100%">Van Wassenaer-Leemhuis, A</style></author><author><style face="normal" font="default" size="100%">Ganzevoort, W</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">TRUFFLE Group</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Longitudinal study of computerized cardiotocography in early fetal growth restriction.</style></title><secondary-title><style face="normal" font="default" size="100%">Ultrasound Obstet Gynecol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Ultrasound Obstet Gynecol</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Cardiotocography</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%">Fetal Growth Retardation</style></keyword><keyword><style  face="normal" font="default" size="100%">Fetal Heart</style></keyword><keyword><style  face="normal" font="default" size="100%">Heart Rate, Fetal</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%">Longitudinal Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Cerebral Artery</style></keyword><keyword><style  face="normal" font="default" size="100%">Pregnancy</style></keyword><keyword><style  face="normal" font="default" size="100%">Pregnancy Outcome</style></keyword><keyword><style  face="normal" font="default" size="100%">Pulsatile Flow</style></keyword><keyword><style  face="normal" font="default" size="100%">Survival Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Ultrasonography, Prenatal</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Jul</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">50</style></volume><pages><style face="normal" font="default" size="100%">71-78</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;To explore whether, in early fetal growth restriction (FGR), the longitudinal pattern of fetal heart rate (FHR) short-term variation (STV) can be used to identify imminent fetal distress and whether abnormalities of FHR recordings are associated with 2-year infant outcome.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;The original TRUFFLE study assessed whether, in early FGR, delivery based on ductus venosus (DV) Doppler pulsatility index (PI), in combination with safety-net criteria of very low STV on cardiotocography (CTG) and/or recurrent FHR decelerations, could improve 2-year infant survival without neurological impairment in comparison with delivery based on CTG monitoring only. This was a secondary analysis of women who delivered before 32 weeks and had consecutive STV data recorded &gt; 3 days before delivery and known infant outcome at 2 years of age. Women who received corticosteroids within 3 days of delivery were excluded. Individual regression line algorithms of all STV values, except the last one before delivery, were calculated. Life tables and Cox regression analysis were used to calculate the daily risk for low STV or very low STV and/or FHR decelerations (below DV group safety-net criteria) and to assess which parameters were associated with this risk. Furthermore, it was assessed whether STV pattern, last STV value or recurrent FHR decelerations were associated with 2-year infant outcome.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;One hundred and forty-nine women from the original TRUFFLE study met the inclusion criteria. Using the individual STV regression lines, prediction of a last STV below the cut-off used by the CTG monitoring group had sensitivity of 42% and specificity of 91%. For each day after study inclusion, the median risk for low STV (CTG group cut-off) was 4% (interquartile range (IQR), 2-7%) and for very low STV and/or recurrent FHR decelerations (below DV group safety-net criteria) was 5% (IQR, 4-7%). Measures of STV pattern, fetal Doppler (arterial or venous), birth-weight multiples of the median and gestational age did not usefully improve daily risk prediction. There was no association of STV regression coefficients, a low last STV and/or recurrent FHR decelerations with short- or long-term infant outcomes.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;The TRUFFLE study showed that a strategy of DV monitoring with safety-net criteria of very low STV and/or recurrent FHR decelerations for delivery indication could increase 2-year infant survival without neurological impairment. This post-hoc analysis demonstrates that, in early FGR, the daily risk of abnormal CTG, as defined by the DV group safety-net criteria, is 5%, and that prediction is not possible. This supports the rationale for CTG monitoring more often than daily in these high-risk fetuses. Low STV and/or recurrent FHR decelerations were not associated with adverse infant outcome and it appears safe to delay intervention until such abnormalities occur, as long as DV-PI is within normal range. Copyright © 2016 ISUOG. Published by John Wiley &amp; Sons Ltd.&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/27484356?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%">Naviglio, Samuele</style></author><author><style face="normal" font="default" size="100%">Soncini, Elena</style></author><author><style face="normal" font="default" size="100%">Vairo, Donatella</style></author><author><style face="normal" font="default" size="100%">Lanfranchi, Arnalda</style></author><author><style face="normal" font="default" size="100%">Badolato, Raffaele</style></author><author><style face="normal" font="default" size="100%">Porta, Fulvio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency.</style></title><secondary-title><style face="normal" font="default" size="100%">J Clin Immunol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Clin. Immunol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Hematopoietic Stem Cell Transplantation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunologic Deficiency Syndromes</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">STAT1 Transcription Factor</style></keyword><keyword><style  face="normal" font="default" size="100%">Treatment Outcome</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Oct</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">37</style></volume><pages><style face="normal" font="default" size="100%">701-706</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;PURPOSE: &lt;/b&gt;Complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare autosomal recessive condition characterized by impairment of intracellular signaling from both type I and type II interferons (IFN). Affected patients are prone to early severe mycobacterial and viral infections, which usually result in death before 18 months of age. We previously reported a patient affected by complete STAT1 deficiency who underwent hematopoietic stem cell transplantation (HSCT). Here, we describe the transplantation procedures and long-term outcomes.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;The patient, who had suffered multiple life-threatening mycobacterial and viral infections in the first years of life, underwent HSCT at 4 years of age from a partially matched (HLA compatibility 8/10) unrelated donor after a myeloablative conditioning regimen consisting of busulfan, cyclophosphamide, and anti-thymocyte globulin.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Hematological reconstitution was detected at d+15, with full donor engraftment demonstrated by molecular analysis of leukocytes. Several complications occurred in the post-transplantation phase, including acute graft versus host disease, posterior reversible encephalopathy, thrombotic thrombocytopenic purpura, bilateral keratoconjunctivitis with complete loss of vision, and chronic lower limb lymphedema. Analysis of STAT1 in CD3 cells at 90 and 120 days after HSCT by flow cytometry showed normal STAT1 phosphorylation levels in response to IFN-α.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Notably, no severe infections occurred after discharge (day + 90) during a 9-year follow-up, suggesting that normal response to IFNs in hematopoietic cells is sufficient to provide protection in humans.&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/28815344?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%">Zupin, L</style></author><author><style face="normal" font="default" size="100%">Robino, A</style></author><author><style face="normal" font="default" size="100%">Navarra, C O</style></author><author><style face="normal" font="default" size="100%">Pirastu, N</style></author><author><style face="normal" font="default" size="100%">Di Lenarda, R</style></author><author><style face="normal" font="default" size="100%">Gasparini, P</style></author><author><style face="normal" font="default" size="100%">Crovella, S</style></author><author><style face="normal" font="default" size="100%">Bevilacqua, L</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">LTF and DEFB1 polymorphisms are associated with susceptibility toward chronic periodontitis development.</style></title><secondary-title><style face="normal" font="default" size="100%">Oral Dis</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Oral Dis</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%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged, 80 and over</style></keyword><keyword><style  face="normal" font="default" size="100%">beta-Defensins</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Chronic Periodontitis</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Lactoferrin</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Oct</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">23</style></volume><pages><style face="normal" font="default" size="100%">1001-1008</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;Chronic periodontitis is a common pathological condition that affects the supporting tissue of the teeth, leading to progressive alveolar bone destruction and teeth loss. The disease is caused by bacteria and derives from an altered host immune and inflammatory response, also involving different factors such as the oral hygiene, smoking, and genetic background. The innate immune response, the first line of host defense, could also play an important role in the susceptibility to chronic periodontitis. In this study, we evaluated the possible association between periodontal disease and seven genetic variations within DEFB1 and LTF genes, encoding for β-defensins 1 and lactoferrin (two members of oral innate immune system), in an Italian isolated population.&lt;/p&gt;&lt;p&gt;&lt;b&gt;SUBJECTS AND METHODS: &lt;/b&gt;DEFB1 5'UTR g. -52G&gt;A (rs1799946), g. -44C&gt;G (rs1800972), g. -20G&gt;A (rs11362), 3'UTR c*5G&gt;A (rs1047031), c*87A&gt;G (rs1800971), LTF p.Ala29Thr (rs1126477), and p.Lys47Arg (rs1126478) single nucleotide polymorphisms (SNPs) were analyzed in 155 healthy individuals and 439 chronic periodontitis patients from North-East Italy.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Significant associations were found between periodontitis and g. -20G&gt;A (rs11362) and g. -44C&gt;G (rs1800972) SNPs in DEFB1 gene as well as p.Ala29Thr (rs1126477) and p.Lys47Arg (rs1126478) SNPs in LTF gene.&lt;/p&gt;&lt;p&gt;&lt;b&gt;DISCUSSION: &lt;/b&gt;Our results suggest the involvement of DEFB1 and LTF genetic variations in the susceptibility toward development of periodontitis.&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/28485077?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%">Ziberna, Fabiana</style></author><author><style face="normal" font="default" size="100%">De Lorenzo, Giuditta</style></author><author><style face="normal" font="default" size="100%">Schiavon, Valentina</style></author><author><style face="normal" font="default" size="100%">Arnoldi, Francesca</style></author><author><style face="normal" font="default" size="100%">Quaglia, Sara</style></author><author><style face="normal" font="default" size="100%">De Leo, Luigina</style></author><author><style face="normal" font="default" size="100%">Vatta, Serena</style></author><author><style face="normal" font="default" size="100%">Martelossi, Stefano</style></author><author><style face="normal" font="default" size="100%">Burrone, Oscar R</style></author><author><style face="normal" font="default" size="100%">Ventura, Alessandro</style></author><author><style face="normal" font="default" size="100%">Not, Tarcisio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lack of Evidence of Rotavirus-Dependent Molecular Mimicry as a Trigger of Celiac Disease.</style></title><secondary-title><style face="normal" font="default" size="100%">Clin Exp Immunol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Clin. Exp. Immunol.</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 Aug 22</style></date></pub-dates></dates><language><style face="normal" font="default" size="100%">ENG</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;New data suggest the involvement of Rotavirus (RV) in triggering autoimmunity in celiac disease (CD) by molecular mimicry between the human-transglutaminase protein and the dodecapeptide (260-271 aa) of the RV protein VP7 (pVP7). To assess the role of RV in the onset of CD, we measured the anti-pVP7 antibodies in the sera of children with CD and of control groups. We analysed serum samples of 118 biopsy proven CD patients and 46 patients with potential-CD; 32 children with other gastrointestinal diseases; 107 no-CD children and 107 blood donors. By ELISA assay, we measured IgA-IgG antibodies against the synthetic peptides pVP7, the human transglutaminase-derived peptide (476-487 aa) which shows an homology with VP7 protein and a control peptide. The triple-layered RV particles (TLPs), containing the VP7 protein, and the double-layered RV-particles (DLPs), lacking the VP7 protein were also used as antigens in ELISA assay. Antibody reactivity to the RV-TLPs was positive in 22/118 (18%) CD patients and in both paediatric (17/107, 16%) and adult (29/107, 27%) control groups, without showing a statistically significant difference among them (p=0.6, p=0.1). Biopsy-proven CD patients as well as the adult control group demonstrated a high positive antibody reactivity against both pVP7 (34/118, 29% CD patients; 66/107, 62% adult controls) and control synthetic peptides (35/118, 30% CD patients; 56/107, 52% adult controls) suggesting a non-specific response against RV pVP7. We show that children with CD do not have higher immune reactivity to RV, thus questioning the molecular mimicry mechanism as a triggering factor of CD. This article is protected by copyright. All rights reserved.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/27548641?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%">Zupin, Luisa</style></author><author><style face="normal" font="default" size="100%">Angelelli, Francesco</style></author><author><style face="normal" font="default" size="100%">Grasso, Domenico Leonardo</style></author><author><style face="normal" font="default" size="100%">Crovella, Sergio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lactoferrin gene polymorphisms in Italian patients with recurrent tonsillitis.</style></title><secondary-title><style face="normal" font="default" size="100%">Int J Pediatr Otorhinolaryngol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Int. J. Pediatr. Otorhinolaryngol.</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 Sep</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">88</style></volume><pages><style face="normal" font="default" size="100%">153-6</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;INTRODUCTION: &lt;/b&gt;Recurrent tonsillitis is an oral pathology characterized by inflammation of tonsils. The disease susceptibility depends upon environmental and host factors, specifically the innate immune response, the first line of host defence could play an important role. Among innate immunity members, lactoferrin, known for its antimicrobial properties, was previously correlated with the risk of oral pathology as periodontitis and dental caries.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;89 Italian children presenting recurrent tonsillitis and 95 healthy children were genotyped for two LTF non-synonymous polymorphisms, called Thr29Ala and Arg47Lys, in order to investigate their potential role in recurrent tonsillitis susceptibility.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;no different allele, genotype and haplotype frequency distributions were detected comparing patients and controls.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;data from the current study indicate that LTF polymorphisms might not be involved in recurrent tonsillitis development in our Italian population. However, since the importance of lactoferrin in oral immunity has been previously assessed, further studies should be necessary to unravel the potential role of LTF genetic variants in oral cavity.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/27497404?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%">Monasta, Lorenzo</style></author><author><style face="normal" font="default" size="100%">Knowles, Alessandra</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Letter to the editor: Outbreak of a new measles B3 variant in the Roma/Sinti population with transmission in the nosocomial setting, Italy, November 2015 to April 2016.</style></title><secondary-title><style face="normal" font="default" size="100%">Euro Surveill</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Euro Surveill.</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 7</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">21</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><issue><style face="normal" font="default" size="100%">27</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/27418558?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%">Zupin, Luisa</style></author><author><style face="normal" font="default" size="100%">Polesello, Vania</style></author><author><style face="normal" font="default" size="100%">Coelho, Antônio Victor Campos</style></author><author><style face="normal" font="default" size="100%">Boniotto, Michele</style></author><author><style face="normal" font="default" size="100%">Arraes, Luiz Claudio</style></author><author><style face="normal" font="default" size="100%">Segat, Ludovica</style></author><author><style face="normal" font="default" size="100%">Crovella, Sergio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lactotransferrin gene functional polymorphisms do not influence susceptibility to human immunodeficiency virus-1 mother-to-child transmission in different ethnic groups.</style></title><secondary-title><style face="normal" font="default" size="100%">Mem Inst Oswaldo Cruz</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Mem. Inst. Oswaldo Cruz</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Acquired Immunodeficiency Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Brazil</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Ethnic Groups</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotyping Techniques</style></keyword><keyword><style  face="normal" font="default" size="100%">HIV-1</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">India</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant, Newborn</style></keyword><keyword><style  face="normal" font="default" size="100%">Infectious Disease Transmission, Vertical</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Lactoferrin</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Real-Time Polymerase Chain Reaction</style></keyword><keyword><style  face="normal" font="default" size="100%">Retrospective Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Zimbabwe</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Apr</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">110</style></volume><pages><style face="normal" font="default" size="100%">222-9</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Lactotransferrin, also known as lactoferrin, is an iron binding glycoprotein that displays antiviral activity against many different infectious agents, including human immunodeficiency virus (HIV)-1. Lactotransferrin is present in the breast milk and in the female genitourinary mucosa and it has been hypothesised as a possible candidate to prevent mother-to-child HIV-1 transmission. To verify if two functional polymorphisms, Thr29Ala and Arg47Lys, in the lactotransferrin encoding gene (LTF) could affect HIV-1 infection and vertical transmission, a preliminary association study was performed in 238 HIV-1 positive and 99 HIV-1 negative children from Brazil, Italy, Africa and India. No statistically significant association for the Thr29Ala and Arg47Lys LTF polymorphisms and HIV-1 susceptibility in the studied populations was found. Additionally LTF polymorphisms frequencies were compared between the four different ethnic groups.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25946246?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%">Pederiva, F</style></author><author><style face="normal" font="default" size="100%">Guida, E</style></author><author><style face="normal" font="default" size="100%">Codrich, D</style></author><author><style face="normal" font="default" size="100%">Scarpa, M G</style></author><author><style face="normal" font="default" size="100%">Olenik, D</style></author><author><style face="normal" font="default" size="100%">Schleef, J</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Laparoscopic orchiopexy: short term outcomes. Experience of a single centre.</style></title><secondary-title><style face="normal" font="default" size="100%">Minerva Pediatr</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Minerva Pediatr.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Oct 27</style></date></pub-dates></dates><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;BACKGROUND: &lt;/b&gt;Increased infertility and smaller volume accompany undescended testis. Timing of orchiopexy is still a matter of debate. We evaluated the growth of nonpalpable testes after laparoscopic orchiopexy according to age at surgery, intraoperative findings and type of procedure.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Forty-one boys undergoing laparoscopy for nonpalpable testes were retrospectively reviewed and divided into two groups, ≤ 18 months and &gt; 18 months, according to their age at surgery.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;At follow-up, 14 testes in the younger group had normal size, while 3 atrophied either after single (2) or two stage procedure (1). Similarly, in older boys 11 testes grew normally, while 5 atrophied after both procedures.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;Most of the nonpalpable testes grew normally after laparoscopic orchiopexy and the postoperative volume seemed independent from the surgical strategy. Both techniques led to a few cases of testicular hypotrophy In our experience, the age at surgery did not affect the outcome in terms of testicular growth.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26505958?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%">Day, Felix R</style></author><author><style face="normal" font="default" size="100%">Ruth, Katherine S</style></author><author><style face="normal" font="default" size="100%">Thompson, Deborah J</style></author><author><style face="normal" font="default" size="100%">Lunetta, Kathryn L</style></author><author><style face="normal" font="default" size="100%">Pervjakova, Natalia</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Stolk, Lisette</style></author><author><style face="normal" font="default" size="100%">Finucane, Hilary K</style></author><author><style face="normal" font="default" size="100%">Sulem, Patrick</style></author><author><style face="normal" font="default" size="100%">Bulik-Sullivan, Brendan</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Johnson, Andrew D</style></author><author><style face="normal" font="default" size="100%">Elks, Cathy E</style></author><author><style face="normal" font="default" size="100%">Franceschini, Nora</style></author><author><style face="normal" font="default" size="100%">He, Chunyan</style></author><author><style face="normal" font="default" size="100%">Altmaier, Elisabeth</style></author><author><style face="normal" font="default" size="100%">Brody, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Franke, Lude L</style></author><author><style face="normal" font="default" size="100%">Huffman, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Keller, Margaux F</style></author><author><style face="normal" font="default" size="100%">McArdle, Patrick F</style></author><author><style face="normal" font="default" size="100%">Nutile, Teresa</style></author><author><style face="normal" font="default" size="100%">Porcu, Eleonora</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Rose, Lynda M</style></author><author><style face="normal" font="default" size="100%">Schick, Ursula M</style></author><author><style face="normal" font="default" size="100%">Smith, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Teumer, Alexander</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Vuckovic, Dragana</style></author><author><style face="normal" font="default" size="100%">Yao, Jie</style></author><author><style face="normal" font="default" size="100%">Zhao, Wei</style></author><author><style face="normal" font="default" size="100%">Albrecht, Eva</style></author><author><style face="normal" font="default" size="100%">Amin, Najaf</style></author><author><style face="normal" font="default" size="100%">Corre, Tanguy</style></author><author><style face="normal" font="default" size="100%">Hottenga, Jouke-Jan</style></author><author><style face="normal" font="default" size="100%">Mangino, Massimo</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Tanaka, Toshiko</style></author><author><style face="normal" font="default" size="100%">Abecasis, Goncalo R</style></author><author><style face="normal" font="default" size="100%">Andrulis, Irene L</style></author><author><style face="normal" font="default" size="100%">Anton-Culver, Hoda</style></author><author><style face="normal" font="default" size="100%">Antoniou, Antonis C</style></author><author><style face="normal" font="default" size="100%">Arndt, Volker</style></author><author><style face="normal" font="default" size="100%">Arnold, Alice M</style></author><author><style face="normal" font="default" size="100%">Barbieri, Caterina</style></author><author><style face="normal" font="default" size="100%">Beckmann, Matthias W</style></author><author><style face="normal" font="default" size="100%">Beeghly-Fadiel, Alicia</style></author><author><style face="normal" font="default" size="100%">Benitez, Javier</style></author><author><style face="normal" font="default" size="100%">Bernstein, Leslie</style></author><author><style face="normal" font="default" size="100%">Bielinski, Suzette J</style></author><author><style face="normal" font="default" size="100%">Blomqvist, Carl</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Bogdanova, Natalia V</style></author><author><style face="normal" font="default" size="100%">Bojesen, Stig E</style></author><author><style face="normal" font="default" size="100%">Bolla, Manjeet K</style></author><author><style face="normal" font="default" size="100%">Borresen-Dale, Anne-Lise</style></author><author><style face="normal" font="default" size="100%">Boutin, Thibaud S</style></author><author><style face="normal" font="default" size="100%">Brauch, Hiltrud</style></author><author><style face="normal" font="default" size="100%">Brenner, Hermann</style></author><author><style face="normal" font="default" size="100%">Brüning, Thomas</style></author><author><style face="normal" font="default" size="100%">Burwinkel, Barbara</style></author><author><style face="normal" font="default" size="100%">Campbell, Archie</style></author><author><style face="normal" font="default" size="100%">Campbell, Harry</style></author><author><style face="normal" font="default" size="100%">Chanock, Stephen J</style></author><author><style face="normal" font="default" size="100%">Chapman, J Ross</style></author><author><style face="normal" font="default" size="100%">Chen, Yii-Der Ida</style></author><author><style face="normal" font="default" size="100%">Chenevix-Trench, Georgia</style></author><author><style face="normal" font="default" size="100%">Couch, Fergus J</style></author><author><style face="normal" font="default" size="100%">Coviello, Andrea D</style></author><author><style face="normal" font="default" size="100%">Cox, Angela</style></author><author><style face="normal" font="default" size="100%">Czene, Kamila</style></author><author><style face="normal" font="default" size="100%">Darabi, Hatef</style></author><author><style face="normal" font="default" size="100%">De Vivo, Immaculata</style></author><author><style face="normal" font="default" size="100%">Demerath, Ellen W</style></author><author><style face="normal" font="default" size="100%">Dennis, Joe</style></author><author><style face="normal" font="default" size="100%">Devilee, Peter</style></author><author><style face="normal" font="default" size="100%">Dörk, Thilo</style></author><author><style face="normal" font="default" size="100%">Dos-Santos-Silva, Isabel</style></author><author><style face="normal" font="default" size="100%">Dunning, Alison M</style></author><author><style face="normal" font="default" size="100%">Eicher, John D</style></author><author><style face="normal" font="default" size="100%">Fasching, Peter A</style></author><author><style face="normal" font="default" size="100%">Faul, Jessica D</style></author><author><style face="normal" font="default" size="100%">Figueroa, Jonine</style></author><author><style face="normal" font="default" size="100%">Flesch-Janys, Dieter</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Garcia, Melissa E</style></author><author><style face="normal" font="default" size="100%">García-Closas, Montserrat</style></author><author><style face="normal" font="default" size="100%">Giles, Graham G</style></author><author><style face="normal" font="default" size="100%">Girotto, Giorgia G</style></author><author><style face="normal" font="default" size="100%">Goldberg, Mark S</style></author><author><style face="normal" font="default" size="100%">González-Neira, Anna</style></author><author><style face="normal" font="default" size="100%">Goodarzi, Mark O</style></author><author><style face="normal" font="default" size="100%">Grove, Megan L</style></author><author><style face="normal" font="default" size="100%">Gudbjartsson, Daniel F</style></author><author><style face="normal" font="default" size="100%">Guenel, Pascal</style></author><author><style face="normal" font="default" size="100%">Guo, Xiuqing</style></author><author><style face="normal" font="default" size="100%">Haiman, Christopher A</style></author><author><style face="normal" font="default" size="100%">Hall, Per</style></author><author><style face="normal" font="default" size="100%">Hamann, Ute</style></author><author><style face="normal" font="default" size="100%">Henderson, Brian E</style></author><author><style face="normal" font="default" size="100%">Hocking, Lynne J</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Homuth, Georg</style></author><author><style face="normal" font="default" size="100%">Hooning, Maartje J</style></author><author><style face="normal" font="default" size="100%">Hopper, John L</style></author><author><style face="normal" font="default" size="100%">Hu, Frank B</style></author><author><style face="normal" font="default" size="100%">Huang, Jinyan</style></author><author><style face="normal" font="default" size="100%">Humphreys, Keith</style></author><author><style face="normal" font="default" size="100%">Hunter, David J</style></author><author><style face="normal" font="default" size="100%">Jakubowska, Anna</style></author><author><style face="normal" font="default" size="100%">Jones, Samuel E</style></author><author><style face="normal" font="default" size="100%">Kabisch, Maria</style></author><author><style face="normal" font="default" size="100%">Karasik, David</style></author><author><style face="normal" font="default" size="100%">Knight, Julia A</style></author><author><style face="normal" font="default" size="100%">Kolcic, Ivana</style></author><author><style face="normal" font="default" size="100%">Kooperberg, Charles</style></author><author><style 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size="100%">Mägi, Reedik</style></author><author><style face="normal" font="default" size="100%">Mannermaa, Arto</style></author><author><style face="normal" font="default" size="100%">Manz, Judith</style></author><author><style face="normal" font="default" size="100%">Margolin, Sara</style></author><author><style face="normal" font="default" size="100%">Marten, Jonathan</style></author><author><style face="normal" font="default" size="100%">Martin, Nicholas G</style></author><author><style face="normal" font="default" size="100%">Masciullo, Corrado</style></author><author><style face="normal" font="default" size="100%">Meindl, Alfons</style></author><author><style face="normal" font="default" size="100%">Michailidou, Kyriaki</style></author><author><style face="normal" font="default" size="100%">Mihailov, Evelin</style></author><author><style face="normal" font="default" size="100%">Milani, Lili</style></author><author><style face="normal" font="default" size="100%">Milne, Roger L</style></author><author><style face="normal" font="default" size="100%">Müller-Nurasyid, Martina</style></author><author><style face="normal" font="default" size="100%">Nalls, Michael</style></author><author><style face="normal" font="default" size="100%">Neale, Benjamin M</style></author><author><style face="normal" font="default" size="100%">Nevanlinna, Heli</style></author><author><style face="normal" font="default" size="100%">Neven, Patrick</style></author><author><style face="normal" font="default" size="100%">Newman, Anne B</style></author><author><style face="normal" font="default" size="100%">Nordestgaard, Børge G</style></author><author><style face="normal" font="default" size="100%">Olson, Janet E</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Peterlongo, Paolo</style></author><author><style face="normal" font="default" size="100%">Peters, Ulrike</style></author><author><style face="normal" font="default" size="100%">Petersmann, Astrid</style></author><author><style face="normal" font="default" size="100%">Peto, Julian</style></author><author><style face="normal" font="default" size="100%">Pharoah, Paul D P</style></author><author><style face="normal" font="default" size="100%">Pirastu, Nicola N</style></author><author><style face="normal" font="default" size="100%">Pirie, Ailith</style></author><author><style face="normal" font="default" size="100%">Pistis, Giorgio</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Porteous, David</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Pylkäs, Katri</style></author><author><style face="normal" font="default" size="100%">Radice, Paolo</style></author><author><style face="normal" font="default" size="100%">Raffel, Leslie J</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Rudolph, Anja</style></author><author><style face="normal" font="default" size="100%">Ruggiero, Daniela</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia F</style></author><author><style face="normal" font="default" size="100%">Sanna, Serena</style></author><author><style face="normal" font="default" size="100%">Sawyer, Elinor J</style></author><author><style face="normal" font="default" size="100%">Schlessinger, David</style></author><author><style face="normal" font="default" size="100%">Schmidt, Marjanka K</style></author><author><style face="normal" font="default" size="100%">Schmidt, Frank</style></author><author><style face="normal" font="default" size="100%">Schmutzler, Rita K</style></author><author><style face="normal" font="default" size="100%">Schoemaker, Minouk J</style></author><author><style face="normal" font="default" size="100%">Scott, Robert A</style></author><author><style face="normal" font="default" size="100%">Seynaeve, Caroline M</style></author><author><style face="normal" font="default" size="100%">Simard, Jacques</style></author><author><style face="normal" font="default" size="100%">Sorice, Rossella</style></author><author><style face="normal" font="default" size="100%">Southey, Melissa C</style></author><author><style face="normal" font="default" size="100%">Stöckl, Doris</style></author><author><style face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Swerdlow, Anthony</style></author><author><style face="normal" font="default" size="100%">Taylor, Kent D</style></author><author><style face="normal" font="default" size="100%">Thorsteinsdottir, Unnur</style></author><author><style face="normal" font="default" size="100%">Toland, Amanda E</style></author><author><style face="normal" font="default" size="100%">Tomlinson, Ian</style></author><author><style face="normal" font="default" size="100%">Truong, Therese</style></author><author><style face="normal" font="default" size="100%">Tryggvadottir, Laufey</style></author><author><style face="normal" font="default" size="100%">Turner, Stephen T</style></author><author><style face="normal" font="default" size="100%">Vozzi, Diego</style></author><author><style face="normal" font="default" size="100%">Wang, Qin</style></author><author><style face="normal" font="default" size="100%">Wellons, Melissa</style></author><author><style face="normal" font="default" size="100%">Willemsen, Gonneke</style></author><author><style face="normal" font="default" size="100%">Wilson, James F</style></author><author><style face="normal" font="default" size="100%">Winqvist, Robert</style></author><author><style face="normal" font="default" size="100%">Wolffenbuttel, Bruce B H R</style></author><author><style face="normal" font="default" size="100%">Wright, Alan F</style></author><author><style face="normal" font="default" size="100%">Yannoukakos, Drakoulis</style></author><author><style face="normal" font="default" size="100%">Zemunik, Tatijana</style></author><author><style face="normal" font="default" size="100%">Zheng, Wei</style></author><author><style face="normal" font="default" size="100%">Zygmunt, Marek</style></author><author><style face="normal" font="default" size="100%">Bergmann, Sven</style></author><author><style face="normal" font="default" size="100%">Boomsma, Dorret I</style></author><author><style face="normal" font="default" size="100%">Buring, Julie E</style></author><author><style face="normal" font="default" size="100%">Ferrucci, Luigi</style></author><author><style face="normal" font="default" size="100%">Montgomery, Grant W</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Spector, Tim D</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Alizadeh, Behrooz Z</style></author><author><style face="normal" font="default" size="100%">Ciullo, Marina</style></author><author><style face="normal" font="default" size="100%">Crisponi, Laura</style></author><author><style face="normal" font="default" size="100%">Easton, Douglas F</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo P</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Kardia, Sharon L R</style></author><author><style face="normal" font="default" size="100%">Kraft, Peter</style></author><author><style face="normal" font="default" size="100%">McKnight, Barbara</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Morrison, Alanna C</style></author><author><style face="normal" font="default" size="100%">Reiner, Alex P</style></author><author><style face="normal" font="default" size="100%">Ridker, Paul M</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Völzke, Henry</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Weir, David R</style></author><author><style face="normal" font="default" size="100%">Yerges-Armstrong, Laura M</style></author><author><style face="normal" font="default" size="100%">Price, Alkes L</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Visser, Jenny A</style></author><author><style face="normal" font="default" size="100%">Ong, Ken K</style></author><author><style face="normal" font="default" size="100%">Chang-Claude, Jenny</style></author><author><style face="normal" font="default" size="100%">Murabito, Joanne M</style></author><author><style face="normal" font="default" size="100%">Perry, John R B</style></author><author><style face="normal" font="default" size="100%">Murray, Anna</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">PRACTICAL Consortium</style></author><author><style face="normal" font="default" size="100%">kConFab investigators</style></author><author><style face="normal" font="default" size="100%">AOCS Investigators</style></author><author><style face="normal" font="default" size="100%">Generation Scotland</style></author><author><style face="normal" font="default" size="100%">EPIC-InterAct Consortium</style></author><author><style face="normal" font="default" size="100%">LifeLines Cohort Study</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat. Genet.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">47</style></volume><pages><style face="normal" font="default" size="100%">1294-303</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural menopause (ANM). We identified 44 regions with common variants, including two regions harboring additional rare missense alleles of large effect. We found enrichment of signals in or near genes involved in delayed puberty, highlighting the first molecular links between the onset and end of reproductive lifespan. Pathway analyses identified major association with DNA damage response (DDR) genes, including the first common coding variant in BRCA1 associated with any complex trait. Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">11</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26414677?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%">Benelli, Elisa</style></author><author><style face="normal" font="default" size="100%">Bruno, Irene</style></author><author><style face="normal" font="default" size="100%">Belcaro, Chiara</style></author><author><style face="normal" font="default" size="100%">Ventura, Alessandro</style></author><author><style face="normal" font="default" size="100%">Berti, Irene</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Legius syndrome: case report and review of literature.</style></title><secondary-title><style face="normal" font="default" size="100%">Ital J Pediatr</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Ital J Pediatr</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">41</style></volume><pages><style face="normal" font="default" size="100%">8</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;A 8-month-old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance, since few days after birth, of numerous café-au-lait spots (seven larger than 5 mm); no other sign evocative of NF 1 was found. Her family history was remarkable for the presence of multiple café-au-lait spots in the mother, the grandfather and two aunts. The family had been already examined for NF 1, but no sign evocative of the disease was found. We then suspected Legius syndrome, a dominant disease characterized by a mild neurofibromatosis 1 phenotype. The diagnosis was confirmed by the finding of a mutation in SPRED1 gene, a feedback regulator of RAS/MAPK signaling. Here, we discuss the differential diagnosis of cafè-au-lait spots and we briefly review the existing literature about Legius syndrome.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25883013?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%">Carbone, Federico</style></author><author><style face="normal" font="default" size="100%">Burger, Fabienne</style></author><author><style face="normal" font="default" size="100%">Roversi, Gloria</style></author><author><style face="normal" font="default" size="100%">Tamborino, Carmine</style></author><author><style face="normal" font="default" size="100%">Casetta, Ilaria</style></author><author><style face="normal" font="default" size="100%">Seraceni, Silva</style></author><author><style face="normal" font="default" size="100%">Trentini, Alessandro</style></author><author><style face="normal" font="default" size="100%">Padroni, Marina</style></author><author><style face="normal" font="default" size="100%">Bertolotto, Maria</style></author><author><style face="normal" font="default" size="100%">Dallegri, Franco</style></author><author><style face="normal" font="default" size="100%">Mach, François</style></author><author><style face="normal" font="default" size="100%">Fainardi, Enrico</style></author><author><style face="normal" font="default" size="100%">Montecucco, Fabrizio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Leptin/adiponectin ratio predicts poststroke neurological outcome.</style></title><secondary-title><style face="normal" font="default" size="100%">Eur J Clin Invest</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Eur. J. Clin. Invest.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">45</style></volume><pages><style face="normal" font="default" size="100%">1184-91</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;BACKGROUND AND AIMS: &lt;/b&gt;Different adipokines have been associated with atherosclerotic plaque rupture and cardiovascular events, such as acute ischaemic stroke (AIS). However, the potential role of these molecules in postischaemic brain injury remains largely unknown.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS AND METHODS: &lt;/b&gt;We performed a substudy analysis on nonobese patients with first atherothrombotic stroke (n = 35) from a recently published prospective cohort. Primary endpoint was to investigate the predictive value of serum leptin/adiponectin ratio on neurological recovery at 90 days after AIS. The secondary endpoint was the predictive value of serum adipokine levels of clinical and radiological outcomes at a shorter follow-up (at days 1 and 7 after AIS). The radiological evaluation included ischaemic lesion volume and haemorrhagic transformation (HT). The clinical examination was based on National Institutes of Health Stroke Scale (NIHSS) and modified Rankin Scale (mRS).&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;At day 1 after AIS, serum leptin and leptin/adiponectin ratio were increased and inversely correlated with both radiological and clinical parameters at all follow-up time points. Once identified the best cut-off points by receiver operating characteristic (ROC) analysis, risk analysis showed that higher circulating leptin improved neurological recovery at day 90. In addition, leptin/adiponectin ratio maintained statistical significance after adjustment for age, gender and thrombolysis, also predicting the occurrence of HT in the first 7 days after AIS (adjusted OR 0·15 [95% CI 0·03-0·83); P = 0·030]).&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Higher leptin/adiponectin ratio at day 1 predicted better neurological outcomes in patients with atherothrombotic AIS and might be potentially useful as a prognostic biomarker of the disease.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">11</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26381386?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%">Muzzi, E</style></author><author><style face="normal" font="default" size="100%">Battelino, S</style></author><author><style face="normal" font="default" size="100%">Gregori, M</style></author><author><style face="normal" font="default" size="100%">Pellegrin, A</style></author><author><style face="normal" font="default" size="100%">Orzan, E</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Life-threatening unilateral hearing impairments. Review of the literature on the association between inner ear malformations and meningitis.</style></title><secondary-title><style face="normal" font="default" size="100%">Int J Pediatr Otorhinolaryngol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Int. J. Pediatr. Otorhinolaryngol.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Dec</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">79</style></volume><pages><style face="normal" font="default" size="100%">1969-74</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;BACKGROUND: &lt;/b&gt;Bacterial meningitis is a life threatening disease that can be triggered by a CSF leak through an inner ear malformation. Early identification of the specific type of cochleovestibular dysplasia and the associated risk of meningitis is of vital importance.&lt;/p&gt;&lt;p&gt;&lt;b&gt;OBJECTIVES: &lt;/b&gt;The objective of this review is to collect and discuss available data on the association between inner ear malformations and meningitis in children.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Electronic databases were crosschecked for obtaining relevant papers published in the last 20 years, and further cases were identified by hand searching through the references. Demographic data were extracted from full texts, together with information on the severity of hearing impairment, the type of inner ear anomaly, the site of cerebrospinal fluid leak, the number of recurrent meningitis episodes.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Sixty-seven cases of meningitis related to inner ear malformation have been identified among 45 papers. Mean age at presentation is 3.60±3.00 (range 0.1-14) years. Average diagnostic delay from the first episode of meningitis is 3.44±3.41 (range 0.00-10.00) years. The number of meningitis episodes that occurred before the correct diagnosis and definitive surgical treatment is 3.27±1.81 (range 1.00-10.00). Unilateral hearing impairment affects 70% of patients. Six patients had normal hearing at presentation. Two children are dead from inner-ear-malformation-related meningitis among reviewed reports.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;A high number of paediatric patients carrying inner ear malformations, especially when associated with unilateral hearing impairment, could be at risk to develop recurrent bacterial meningitis. Universal newborn hearing screening programs should prompt a diagnostic work-up even in the case of unilateral hearing impairment, in order to prevent inner ear malformation-related meningitis.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">12</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26453271?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%">Lucafo, M</style></author><author><style face="normal" font="default" size="100%">De Iudicibus, S</style></author><author><style face="normal" font="default" size="100%">Di Silvestre, A</style></author><author><style face="normal" font="default" size="100%">Pelin, M</style></author><author><style face="normal" font="default" size="100%">Candussio, L</style></author><author><style face="normal" font="default" size="100%">Martelossi, S</style></author><author><style face="normal" font="default" size="100%">Tommasini, A</style></author><author><style face="normal" font="default" size="100%">Piscianz, E</style></author><author><style face="normal" font="default" size="100%">Ventura, A</style></author><author><style face="normal" font="default" size="100%">Decorti, G</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Long noncoding RNA GAS5: a novel marker involved in glucocorticoid response.</style></title><secondary-title><style face="normal" font="default" size="100%">Curr Mol Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Curr. Mol. Med.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Proliferation</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Glucocorticoids</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Leukocytes, Mononuclear</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Methylprednisolone</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, Glucocorticoid</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Long Noncoding</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription, Genetic</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">15</style></volume><pages><style face="normal" font="default" size="100%">94-9</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Glucocorticoids (GCs) exert their effects through regulation of gene expression after activation in the cytoplasm of the glucocorticoid receptor (GR) encoded by NR3C1 gene. A negative feedback mechanism resulting in GR autoregulation has been demonstrated through the binding of the activated receptor to intragenic sequences called GRE-like elements, contained in GR gene. The long noncoding RNA growth arrest-specific transcript 5 (GAS5) interacts with the activated GR suppressing its transcriptional activity. The aim of this study was to evaluate the possible role of GAS5 and NR3C1 gene expression in the antiproliferative effect of methylprednisolone in peripheral blood mononuclear cells and to correlate the expression with individual sensitivity to GCs. Subjects being poor responders to GCs presented higher levels of GAS5 and NR3C1 in comparison with good responders. We suggest that abnormal levels of GAS5 may alter GC effectiveness, probably interfering with the mechanism of GR autoregulation.&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/25601472?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%">De Seta, F</style></author><author><style face="normal" font="default" size="100%">Parazzini, F</style></author><author><style face="normal" font="default" size="100%">De Leo, R</style></author><author><style face="normal" font="default" size="100%">Banco, R</style></author><author><style face="normal" font="default" size="100%">Maso, G P</style></author><author><style face="normal" font="default" size="100%">De Santo, D</style></author><author><style face="normal" font="default" size="100%">Sartore, A</style></author><author><style face="normal" font="default" size="100%">Stabile, G</style></author><author><style face="normal" font="default" size="100%">Inglese, S</style></author><author><style face="normal" font="default" size="100%">Tonon, M</style></author><author><style face="normal" font="default" size="100%">Restaino, S</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lactobacillus plantarum P17630 for preventing Candida vaginitis recurrence: a retrospective comparative study.</style></title><secondary-title><style face="normal" font="default" size="100%">Eur J Obstet Gynecol Reprod Biol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Eur. J. Obstet. Gynecol. Reprod. Biol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Administration, Intravaginal</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%">Antifungal Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Candidiasis, Vulvovaginal</style></keyword><keyword><style  face="normal" font="default" size="100%">Clotrimazole</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Lactobacillus plantarum</style></keyword><keyword><style  face="normal" font="default" size="100%">Microbiota</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Probiotics</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%">Secondary Prevention</style></keyword><keyword><style  face="normal" font="default" size="100%">Vagina</style></keyword><keyword><style  face="normal" font="default" size="100%">Vaginal Creams, Foams, and Jellies</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 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">182</style></volume><pages><style face="normal" font="default" size="100%">136-9</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;BACKGROUND: &lt;/b&gt;Recurrence is a frequent complaint of patients with vulvovaginal candidiasis (VVC). Although the pathogenesis of VVC remains a controversial issue, disruption of the balance between the vaginal microbiota may facilitate overgrowth by Candida. Some probiotic bacterial strains can suppress Candida albicans; Lactobacillus plantarum P17630 is able to attach to vaginal epithelial cells and significantly reduce the adhesion of C. albicans.&lt;/p&gt;&lt;p&gt;&lt;b&gt;OBJECTIVE: &lt;/b&gt;To evaluate the effect of the application of Lactobacillus plantarum P17630 in restoring the vaginal microbiota and prevention of relapses among women with acute VVC undergoing conventional (azole) local and main therapy.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Retrospective comparative study. We recruited 89 women with a diagnosis of VVC, who were placed into two groups on the basis of reported treatment. The control group was treated with a daily dose of 2% clotrimazole vaginal cream at bedtime for 3 days, followed by vaginal application of a capsule containing lubricant once a day for 6 days and then once a week for another 4 weeks. The probiotic group was treated with the same azole-based protocol but followed by vaginal application of a capsule containing Lactobacillus plantarum P17630 (&gt;10₈ CFU) once a day for 6 days and then once a week for another 4 weeks beginning the day following clotrimazole discontinuation. Clinical and diagnostic patterns were monitored for three months of follow-up.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;At the end of study the probiotic-treated women showed a statistically significant increase in Lactobacillus values &quot;+++&quot; (80% versus 40%, p&lt;0.001) and a better subjective resolution of symptoms such as vaginal discomfort described as burning or itching (90% versus 67.5%, p&lt;0.03). Among controls there was a non-significant increase at 3 months of recurrence of infection, but a significant increase of women with value of pH=5 or &gt;5.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;Although the results of different studies are controversial, most have suggested use of probiotics in the prevention or treatment of VVC, and no adverse effects have been reported. Our data with L. plantarum P17630 (Gyno-Canesflor - Bayer) confirm the role of this specific strain as a potential empirical preventive agent for reducing vaginal discomfort after conventional treatment of acute VVC and shifting the vaginal milieu toward a predominance of lactobacilli with an improvement of the vaginal pH value.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25305660?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%">Celeghini, Claudio</style></author><author><style face="normal" font="default" size="100%">Not, Tarcisio</style></author><author><style face="normal" font="default" size="100%">Norcio, Alessia</style></author><author><style face="normal" font="default" size="100%">Monasta, Lorenzo</style></author><author><style face="normal" font="default" size="100%">Secchiero, Paola</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Levels of circulating TNF-related apoptosis-inducing ligand in celiac disease.</style></title><secondary-title><style face="normal" font="default" size="100%">Exp Ther Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Exp Ther Med</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 Dec</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">8</style></volume><pages><style face="normal" font="default" size="100%">1906-1908</style></pages><language><style face="normal" font="default" size="100%">ENG</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;It has previously been demonstrated that the circulating levels of TNF-related apoptosis-inducing ligand (TRAIL) are significantly lower in patients with type 1 diabetes (T1D) than in normal age- and gender-matched controls. Since celiac disease (CD) is often associated with T1D, a retrospective study was performed to analyze the sera of a cohort of pediatric subjects: i) patients with CD at onset (n=100); ii) patients with potential CD (n=45); iii) patients with CD associated with other auto-immune diseases (n=17); and iv) patients with eosinophilic esophagitis (n=15). Among the patients with CD, 49 were also analyzed after six months on a gluten-free diet, while data were also available for 13 patients after one year on a gluten-free diet. No significant differences were found in the circulating levels of TRAIL between the patients with CD and the patients with either eosinophilic esophagitis or potential CD. Patients with CD associated with other auto-immune diseases showed significantly lower levels of TRAIL when compared with patients with CD alone. The gluten-free diet did not significantly modify the levels of circulating TRAIL at 6 or 12 months. Thus, although T1D and CD share common immunological features, the circulating levels of TRAIL show a significant difference between the two pathologies, and do not appear to be modulated in CD.&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/25371753?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%">De Azevêdo Silva, Jaqueline</style></author><author><style face="normal" font="default" size="100%">Pancotto, João Alexandre Trés</style></author><author><style face="normal" font="default" size="100%">Donadi, Eduardo Antônio</style></author><author><style face="normal" font="default" size="100%">Crovella, Sergio</style></author><author><style face="normal" font="default" size="100%">Sandrin-Garcia, Paula</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">LIG4 and RAD52 DNA repair genes polymorphisms and systemic lupus erythematosus.</style></title><secondary-title><style face="normal" font="default" size="100%">Mol Biol Rep</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Mol. Biol. Rep.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Brazil</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Ligases</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Repair</style></keyword><keyword><style  face="normal" font="default" size="100%">Ethnic Groups</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Linkage</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Haplotypes</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Lupus Erythematosus, Systemic</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Odds Ratio</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Rad52 DNA Repair and Recombination Protein</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</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">41</style></volume><pages><style face="normal" font="default" size="100%">2249-56</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Systemic lupus erythematosus (SLE) is a complex autoimmune disorder with a strong genetic background. Nevertheless, SLE might also be triggered due to environmental factors, such as UV light exposure. DNA double strand breaks (DSBs) may be induced secondarily by UV radiation, increasing DNA immunogenicity and in SLE patients DNA repair is diminished, allowing the accumulation of DSBs and genomic instability. LIG4 and RAD52 genes play important roles in DNA repair mechanisms and a recent microarray analysis showed their differential expression in active SLE patients. In this study we investigated a potential association between LIG4 and RAD52 single nucleotide polymorphisms (SNPs) and SLE predisposition in a Southeast Brazilian population. We assessed four Tag SNPs in LIG4 and three in RAD52 gene region, encompassing most of the gene sequence, in 158 SLE patients and 212 healthy controls. We also performed SNPs analysis considering clinical manifestation, gender and ethnicity in SLE patients. Our data did not show association between LIG4 and RAD52 SNPs and SLE, its clinical manifestations or ethnicity in the tested population. The analysis regarding ethnicity and SLE clinical manifestations indicated Caucasian-derived patients as more susceptible to cutaneous and hematological alterations than the African-derived. To our knowledge, this is the first association study involving LIG4 and RAD52 genes and SLE predisposition.&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/24415301?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%">Verrotti, Alberto</style></author><author><style face="normal" font="default" size="100%">Moavero, Romina</style></author><author><style face="normal" font="default" size="100%">Vigevano, Federico</style></author><author><style face="normal" font="default" size="100%">Cantonetti, Laura</style></author><author><style face="normal" font="default" size="100%">Guerra, Azzurra</style></author><author><style face="normal" font="default" size="100%">Spezia, Elisabetta</style></author><author><style face="normal" font="default" size="100%">Tricarico, Antonella</style></author><author><style face="normal" font="default" size="100%">Nanni, Giuliana</style></author><author><style face="normal" font="default" size="100%">Agostinelli, Sergio</style></author><author><style face="normal" font="default" size="100%">Chiarelli, Francesco</style></author><author><style face="normal" font="default" size="100%">Parisi, Pasquale</style></author><author><style face="normal" font="default" size="100%">Capovilla, Giuseppe</style></author><author><style face="normal" font="default" size="100%">Beccaria, Francesca</style></author><author><style face="normal" font="default" size="100%">Spalice, Alberto</style></author><author><style face="normal" font="default" size="100%">Coppola, Giangennaro</style></author><author><style face="normal" font="default" size="100%">Franzoni, Emilio</style></author><author><style face="normal" font="default" size="100%">Gentile, Valentina</style></author><author><style face="normal" font="default" size="100%">Casellato, Susanna</style></author><author><style face="normal" font="default" size="100%">Veggiotti, Pierangelo</style></author><author><style face="normal" font="default" size="100%">Malgesini, Sara</style></author><author><style face="normal" font="default" size="100%">Crichiutti, Giovanni</style></author><author><style face="normal" font="default" size="100%">Balestri, Paolo</style></author><author><style face="normal" font="default" size="100%">Grosso, Salvatore</style></author><author><style face="normal" font="default" size="100%">Zamponi, Nelia</style></author><author><style face="normal" font="default" size="100%">Incorpora, Gemma</style></author><author><style face="normal" font="default" size="100%">Savasta, Salvatore</style></author><author><style face="normal" font="default" size="100%">Costa, Paola</style></author><author><style face="normal" font="default" size="100%">Pruna, Dario</style></author><author><style face="normal" font="default" size="100%">Cusmai, Raffaella</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Long-term follow-up in children with benign convulsions associated with gastroenteritis.</style></title><secondary-title><style face="normal" font="default" size="100%">Eur J Paediatr Neurol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Eur. J. Paediatr. Neurol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Anticonvulsants</style></keyword><keyword><style  face="normal" font="default" size="100%">Attention Deficit Disorder with Hyperactivity</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%">Electroencephalography</style></keyword><keyword><style  face="normal" font="default" size="100%">Epilepsy</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gastroenteritis</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Longitudinal Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurologic Examination</style></keyword><keyword><style  face="normal" font="default" size="100%">Retrospective Studies</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 Sep</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">18</style></volume><pages><style face="normal" font="default" size="100%">572-7</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;BACKGROUND: &lt;/b&gt;The outcome of benign convulsions associated with gastroenteritis (CwG) has generally been reported as being excellent. However, these data need to be confirmed in studies with longer follow-up evaluations.&lt;/p&gt;&lt;p&gt;&lt;b&gt;AIM: &lt;/b&gt;To assess the long-term neurological outcome of a large sample of children presenting with CwG.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;We reviewed clinical features of 81 subjects presenting with CwG (1994-2010) from three different Italian centers with a follow-up period of at least 3 years.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Follow-up period ranged from 39 months to 15 years (mean 9.8 years). Neurological examination and cognitive level at the last evaluation were normal in all the patients. A mild attention deficit was detected in three cases (3.7%). Fourteen children (17.3%) received chronic anti-epileptic therapy. Interictal EEG abnormalities detected at onset in 20 patients (24.7%) reverted to normal. Transient EEG epileptiform abnormalities were detected in other three cases (3.7%), and a transient photosensitivity in one (1.2%). No recurrence of CwG was observed. Three patients (3.7%) presented with a febrile seizure and two (2.5%) with an unprovoked seizure, but none developed epilepsy.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;The long-term evaluation of children with CwG confirms the excellent prognosis of this condition, with normal psychomotor development and low risk of relapse and of subsequent epilepsy.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24780603?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%">Bianco, A M</style></author><author><style face="normal" font="default" size="100%">Vuch, J</style></author><author><style face="normal" font="default" size="100%">Girardelli, M</style></author><author><style face="normal" font="default" size="100%">Zanin, V</style></author><author><style face="normal" font="default" size="100%">Marcuzzi, A</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%">Letter: inflammatory bowel disease, complementary and alternative medicine, and genetics.</style></title><secondary-title><style face="normal" font="default" size="100%">Aliment Pharmacol Ther</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Aliment. Pharmacol. Ther.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Complementary Therapies</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Inflammatory Bowel Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Medication Adherence</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 May</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">35</style></volume><pages><style face="normal" font="default" size="100%">1110-1</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><issue><style face="normal" font="default" size="100%">9</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25099779?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%">Stocco, G</style></author><author><style face="normal" font="default" size="100%">De Iudicibus, S</style></author><author><style face="normal" font="default" size="100%">Cuzzoni, E</style></author><author><style face="normal" font="default" size="100%">Decorti, G</style></author><author><style face="normal" font="default" size="100%">Martelossi, S</style></author><author><style face="normal" font="default" size="100%">Ventura, A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Letter: TPMT activity and age in IBD patients.</style></title><secondary-title><style face="normal" font="default" size="100%">Aliment Pharmacol Ther</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Aliment. Pharmacol. Ther.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Azathioprine</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunosuppressive Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Inflammatory Bowel Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">Thioguanine</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 Apr</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">35</style></volume><pages><style face="normal" font="default" size="100%">966-7; author reply 967-9</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><issue><style face="normal" font="default" size="100%">8</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22436044?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%">Manna, Francesco</style></author><author><style face="normal" font="default" size="100%">Barbi, Egidio</style></author><author><style face="normal" font="default" size="100%">Murru, Flora</style></author><author><style face="normal" font="default" size="100%">Bussani, Rossana</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lingual schwannoma in pediatric patients.</style></title><secondary-title><style face="normal" font="default" size="100%">J Craniofac Surg</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J Craniofac Surg</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Diagnosis, Differential</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Magnetic Resonance Imaging</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurilemmoma</style></keyword><keyword><style  face="normal" font="default" size="100%">Tongue Neoplasms</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 Sep</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">23</style></volume><pages><style face="normal" font="default" size="100%">e454-6</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;We present the case of a 15-year-old boy who presented to our emergency department because of a soft lesion growing on the back of his tongue. On examination, a vegetant mass on the posteromidline lingual part of the body of the tongue was noticed: it was not painful, even if the boy reported discomfort because of its size; there was no bleeding or signs of infection. The magnetic resonance imaging showed the lesion as trilobated and capsulated, but was not diriment to define a diagnosis; excisional biopsy was performed under general anesthesia, and the mass was identified as a schwannoma. Schwannoma, or neurilemmoma, is a benign tumor originating from Schwann cells of the nerve sheath surrounding peripheral nerves. It is slow-growing, usually solitary, and encapsulated. Intraoral schwannomas are rare and account for 1% of lesions of the head and neck region. There is no sex predilection. The symptoms depend on size and location of the tumor. Recurrence is rare after complete surgical resection. The present study aimed to retrospectively describe our experience with a case of neurilemmoma of the tongue presenting in childhood, the diagnostic methods used, the surgical decision, and the treatment outcome and to analyze the data and review the literature available on this type of tumor. The etiology, clinical presentation, differential diagnosis, and management are discussed.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22976705?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%">Marcuzzi, Annalisa</style></author><author><style face="normal" font="default" size="100%">Zanin, Valentina</style></author><author><style face="normal" font="default" size="100%">Piscianz, Elisa</style></author><author><style face="normal" font="default" size="100%">Tricarico, Paola Maura</style></author><author><style face="normal" font="default" size="100%">Vuch, Josef</style></author><author><style face="normal" font="default" size="100%">Girardelli, Martina</style></author><author><style face="normal" font="default" size="100%">Monasta, Lorenzo</style></author><author><style face="normal" font="default" size="100%">Bianco, Anna Monica</style></author><author><style face="normal" font="default" size="100%">Crovella, Sergio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line.</style></title><secondary-title><style face="normal" font="default" size="100%">Int J Dev Neurosci</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Int. J. Dev. Neurosci.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Analysis of Variance</style></keyword><keyword><style  face="normal" font="default" size="100%">Apoptosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Caspases</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Line, Tumor</style></keyword><keyword><style  face="normal" font="default" size="100%">Diterpenes</style></keyword><keyword><style  face="normal" font="default" size="100%">Dose-Response Relationship, Drug</style></keyword><keyword><style  face="normal" font="default" size="100%">Drug Interactions</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Hydroxymethylglutaryl-CoA Reductase Inhibitors</style></keyword><keyword><style  face="normal" font="default" size="100%">Lovastatin</style></keyword><keyword><style  face="normal" font="default" size="100%">Neuroblastoma</style></keyword><keyword><style  face="normal" font="default" size="100%">Time Factors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 Oct</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">30</style></volume><pages><style face="normal" font="default" size="100%">451-6</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Mevalonic aciduria (MA), the most severe form of mevalonate kinase deficiency (MKD), is still an orphan drug disease and the pathogenetic mechanisms underlying neuronal dysfunction is still poorly understood. In our study we have investigated the apoptotic mechanism mediated by the exposure of the cultured neuroblastoma cell line, SH-SY5Y, to lovastatin in absence or in presence of the isoprenoid, geranylgeraniol, with the aim of unraveling the pathogenesis of MA. Lovastatin, blocks the mevalonate pathway inhibiting the 3-hydroxy-3-methylglutaryl-CoA reductase (HMG-CR), an enzyme of the mevalonate pathway upstream the mevalonate kinase enzyme, reproducing biochemical features similar to those found in MKD. We demonstrate that apoptosis in neuronal lovastatin treated-cells is induced by the mitochondrial pathway, with caspase-9 as the initiator and caspase-3 as the effector caspase. The presence of geranylgeraniol modulates both the caspase-9 and caspase-3 activity in a dose-dependent way, confirming that this isoprenoid enters the mevalonate pathway, is metabolized and finally is able to by-pass the statin biochemical block reconstituting the mevalonate pathway. According to our findings, it should not be the time course adopted that modulates the apoptotic response but rather the isoprenoid itself. Being aware that our results have been obtained using a biochemical model of MKD, and not cells from patients with the disease, we believe our findings increase the knowledge of MA pathogenesis, and may possibly contribute to the development of novel therapeutic strategies.&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/22759742?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%">Dani, Carlo</style></author><author><style face="normal" font="default" size="100%">Lori, Ilaria</style></author><author><style face="normal" font="default" size="100%">Favelli, Federica</style></author><author><style face="normal" font="default" size="100%">Frosini, Saverio</style></author><author><style face="normal" font="default" size="100%">Messner, Hubert</style></author><author><style face="normal" font="default" size="100%">Wanker, Petra</style></author><author><style face="normal" font="default" size="100%">De Marini, Sergio</style></author><author><style face="normal" font="default" size="100%">Oretti, Chiara</style></author><author><style face="normal" font="default" size="100%">Boldrini, Antonio</style></author><author><style face="normal" font="default" size="100%">Massimiliano, Ciantelli</style></author><author><style face="normal" font="default" size="100%">Bragetti, Patrizia</style></author><author><style face="normal" font="default" size="100%">Germini, Cristiana</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Lutein and zeaxanthin supplementation in preterm infants to prevent retinopathy of prematurity: a randomized controlled study.</style></title><secondary-title><style face="normal" font="default" size="100%">J Matern Fetal Neonatal Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Matern. Fetal. Neonatal. Med.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Antioxidants</style></keyword><keyword><style  face="normal" font="default" size="100%">Drug Administration Schedule</style></keyword><keyword><style  face="normal" font="default" size="100%">Drug Combinations</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant, Newborn</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant, Premature</style></keyword><keyword><style  face="normal" font="default" size="100%">Logistic Models</style></keyword><keyword><style  face="normal" font="default" size="100%">Lutein</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinopathy of Prematurity</style></keyword><keyword><style  face="normal" font="default" size="100%">Risk Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Treatment Outcome</style></keyword><keyword><style  face="normal" font="default" size="100%">Xanthophylls</style></keyword><keyword><style  face="normal" font="default" size="100%">Zeaxanthins</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 May</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">25</style></volume><pages><style face="normal" font="default" size="100%">523-7</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;Lutein and its isomer zeaxanthin (L/Z) function in the eye as antioxidant agents and blue-light filters. Our aim was to evaluate whether their administration could help decrease the occurrence of retinopathy of prematurity (ROP) in preterm infants.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Infants with gestational age ≤32 weeks were randomly assigned to receive a daily dose of L/Z (0.14 + 0.006 mg) or placebo until discharge.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;ROP occurrence was similar in the L/Z (11/58; 19%) and placebo (15/56; 27%) groups, as the occurrence of ROP at each stage and the need of eye surgery.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;L/Z supplementation was ineffective in preventing ROP in preterm infants and did not affect the outcome at discharge of our patients.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22003960?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%">Marcuzzi, Annalisa</style></author><author><style face="normal" font="default" size="100%">Zanin, Valentina</style></author><author><style face="normal" font="default" size="100%">Vuch, Josef</style></author><author><style face="normal" font="default" size="100%">Pontillo, Alessandra</style></author><author><style face="normal" font="default" size="100%">Crovella, Sergio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Letter to the editor: acute effects of intravenous administration of pamidronate in patients with osteoporosis.</style></title><secondary-title><style face="normal" font="default" size="100%">J Korean Med Sci</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Korean Med. Sci.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Anti-Inflammatory Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Cytokines</style></keyword><keyword><style  face="normal" font="default" size="100%">Diphosphonates</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Injections, Intravenous</style></keyword><keyword><style  face="normal" font="default" size="100%">Osteoporosis</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 Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">26</style></volume><pages><style face="normal" font="default" size="100%">848-9; author reply 850</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><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/21655077?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><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%">Parco, Sergio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Leukocyte peroxidase and leptin: an associated link of glycemic tolerance and bronchial asthma?</style></title><secondary-title><style face="normal" font="default" size="100%">Diabetes Metab Syndr Obes</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Diabetes Metab Syndr Obes</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2010</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">3</style></volume><pages><style face="normal" font="default" size="100%">113-6</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Recent observations suggest the presence of an interaction between leptin and the inflammatory system during bronchial asthma. Although there is evidence of a positive association between asthma and obesity in adults and children, little is yet known about the role of serum leptin, as a potential mediator for bronchial epithelial homeostasis, and intraleukocyte myeloperoxidase (MPO), a hemoprotein with a molecular weight of 140 kDa, expression of the inflammatory system, in asthmatic children. Glycemic tolerance is an important pathogenetic element in developing type 2 mellitus diabetes and a confirmed predictor of incident asthma-like symptoms in adults. This work is aimed at assessing a possible correlation between basal leukocyte myeloperoxidase levels, basal leptin and insulin-glycemic tolerance in obese children. Thirty obese children aged between 7 and 15 years were examined. The analyzed data showed a normal response to the insulinemic stimulus in children of both sexes whose basal leptin and MPO values, expressed as MPO intracellular index, were within the normal range.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/21437081?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%">Bembi, Bruno</style></author><author><style face="normal" font="default" size="100%">Pisa, Federica Edith</style></author><author><style face="normal" font="default" size="100%">Confalonieri, Marco</style></author><author><style face="normal" font="default" size="100%">Ciana, Giovanni</style></author><author><style face="normal" font="default" size="100%">Fiumara, Agata</style></author><author><style face="normal" font="default" size="100%">Parini, Rossella</style></author><author><style face="normal" font="default" size="100%">Rigoldi, Miriam</style></author><author><style face="normal" font="default" size="100%">Moglia, Arrigo</style></author><author><style face="normal" font="default" size="100%">Costa, Alfredo</style></author><author><style face="normal" font="default" size="100%">Carlucci, Annalisa</style></author><author><style face="normal" font="default" size="100%">Danesino, Cesare</style></author><author><style face="normal" font="default" size="100%">Pittis, Maria Gabriela</style></author><author><style face="normal" font="default" size="100%">Dardis, Andrea</style></author><author><style face="normal" font="default" size="100%">Ravaglia, Sabrina</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.</style></title><secondary-title><style face="normal" font="default" size="100%">J Inherit Metab Dis</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Inherit. Metab. Dis.</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%">Age of Onset</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">alpha-Glucosidases</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Enzyme Replacement Therapy</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%">Glycogen Storage Disease Type II</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Observation</style></keyword><keyword><style  face="normal" font="default" size="100%">Time Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Treatment Outcome</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</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 Dec</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">33</style></volume><pages><style face="normal" font="default" size="100%">727-35</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;Type II glycogenosis (GSDII) is a lysosomal storage disorder due to acid alpha-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) with human recombinant alpha-glucosidase (rhGAA) has been demonstrated to be effective in the treatment of infantile forms of GSDII, but little information is available concerning late-onset phenotypes. Long-term follow-up studies are not available at present. The aim of this study was to evaluate the ERT long-term effects in late-onset GSDII.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Twenty-four patients, including 7 juveniles and 17 adults, received bi-weekly infusion of rhGAA (20 mg/kg) for at least 36 months. Clinical conditions, muscular function (6-min walking test, 6MWT; Walton scale, WS), respiratory function (vital capacity, VC; forced expiratory volume, FEV1; arterial pCO(2)), and muscle enzymes were assessed every 6 months.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The 6MWT improved in both juvenile and adult patients (p = 0.01, p = 0.0002, respectively), as well as in patients with moderate to severe muscle function impairment (WS &gt;3.5; p = 0.002). An overall improvement in WS was also observed (p = 0.0003). VC and FEV1 remained unchanged, while pCO(2) decreased (p = 0.017). Muscle enzymes decreased significantly (p &lt; 0.0001). Two patients (8%) showed transient secondary events during ERT.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Long-term ERT with rhGAA was shown to be safe, well tolerated, and effective in improving motor function and in stabilizing respiratory function in late-onset GSDII. The response pattern showed a progressive clinical improvement during the follow-up period in juvenile patients, while in adults it reached and maintained a plateau after the first year of treatment.&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/20838899?dopt=Abstract</style></custom1></record></records></xml>