<?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%">Randi, Maria L</style></author><author><style face="normal" font="default" size="100%">Geranio, Giulia</style></author><author><style face="normal" font="default" size="100%">Bertozzi, Irene</style></author><author><style face="normal" font="default" size="100%">Micalizzi, Concetta</style></author><author><style face="normal" font="default" size="100%">Ramenghi, Ugo</style></author><author><style face="normal" font="default" size="100%">Tucci, Fabio</style></author><author><style face="normal" font="default" size="100%">Notarangelo, Lucia D</style></author><author><style face="normal" font="default" size="100%">Ladogana, Saverio</style></author><author><style face="normal" font="default" size="100%">Menna, Giuseppe</style></author><author><style face="normal" font="default" size="100%">Giordano, Paola</style></author><author><style face="normal" font="default" size="100%">Consarino, Caterina</style></author><author><style face="normal" font="default" size="100%">Farruggia, Piero</style></author><author><style face="normal" font="default" size="100%">Zanazzo, Giulio A</style></author><author><style face="normal" font="default" size="100%">Fiori, Giovanni M</style></author><author><style face="normal" font="default" size="100%">Burnelli, Roberta</style></author><author><style face="normal" font="default" size="100%">Russo, Giovanna</style></author><author><style face="normal" font="default" size="100%">Jankovich, Momcilo</style></author><author><style face="normal" font="default" size="100%">Peroni, Edoardo</style></author><author><style face="normal" font="default" size="100%">Duner, Elena</style></author><author><style face="normal" font="default" size="100%">Basso, Giuseppe</style></author><author><style face="normal" font="default" size="100%">Fabris, Fabrizio</style></author><author><style face="normal" font="default" size="100%">Putti, Maria C</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort.</style></title><secondary-title><style face="normal" font="default" size="100%">Br J Haematol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Br. J. Haematol.</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%">Amino Acid Substitution</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%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Hematologic Neoplasms</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%">Janus Kinase 2</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation, Missense</style></keyword><keyword><style  face="normal" font="default" size="100%">Neoplasm Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Thrombocythemia, Essential</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 May</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">169</style></volume><pages><style face="normal" font="default" size="100%">584-9</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Sporadic essential thrombocythaemia (ET) is rare in paediatrics, and the diagnostic and clinical approach to paediatric cases cannot be simply copied from experience with adults. Here, we assessed 89 children with a clinical diagnosis of ET and found that 23 patients (25·8%) had a clonal disease. The JAK2 V617F mutation was identified in 14 children, 1 child had the MPL W515L mutation, and 6 had CALR mutations. The monoclonal X-chromosome inactivation pattern was seen in six patients (two with JAK2 V617F and two with CALR mutations). The other 66 patients (74·2%) had persistent thrombocytosis with no clonality. There were no clinical or haematological differences between the clonal and non-clonal patients. The relative proportion of ET-specific mutations in the clonal children was much the same as in adults. The higher prevalence of non-clonal cases suggests that some patients may not have myeloproliferative neoplasms, with significant implications for their treatment.&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/25716342?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%">Noris, Patrizia</style></author><author><style face="normal" font="default" size="100%">Schlegel, Nicole</style></author><author><style face="normal" font="default" size="100%">Klersy, Catherine</style></author><author><style face="normal" font="default" size="100%">Heller, Paula G</style></author><author><style face="normal" font="default" size="100%">Civaschi, Elisa</style></author><author><style face="normal" font="default" size="100%">Pujol-Moix, Núria</style></author><author><style face="normal" font="default" size="100%">Fabris, Fabrizio</style></author><author><style face="normal" font="default" size="100%">Favier, Rémi</style></author><author><style face="normal" font="default" size="100%">Gresele, Paolo</style></author><author><style face="normal" font="default" size="100%">Latger-Cannard, Véronique</style></author><author><style face="normal" font="default" size="100%">Cuker, Adam</style></author><author><style face="normal" font="default" size="100%">Nurden, Paquita</style></author><author><style face="normal" font="default" size="100%">Greinacher, Andreas</style></author><author><style face="normal" font="default" size="100%">Cattaneo, Marco</style></author><author><style face="normal" font="default" size="100%">De Candia, Erica</style></author><author><style face="normal" font="default" size="100%">Pecci, Alessandro</style></author><author><style face="normal" font="default" size="100%">Hurtaud-Roux, Marie-Françoise</style></author><author><style face="normal" font="default" size="100%">Glembotsky, Ana C</style></author><author><style face="normal" font="default" size="100%">Muñiz-Diaz, Eduardo</style></author><author><style face="normal" font="default" size="100%">Randi, Maria Luigia</style></author><author><style face="normal" font="default" size="100%">Trillot, Nathalie</style></author><author><style face="normal" font="default" size="100%">Bury, Loredana</style></author><author><style face="normal" font="default" size="100%">Lecompte, Thomas</style></author><author><style face="normal" font="default" size="100%">Marconi, Caterina</style></author><author><style face="normal" font="default" size="100%">Savoia, Anna</style></author><author><style face="normal" font="default" size="100%">Balduini, Carlo L</style></author><author><style face="normal" font="default" size="100%">Bayart, Sophie</style></author><author><style face="normal" font="default" size="100%">Bauters, Anne</style></author><author><style face="normal" font="default" size="100%">Benabdallah-Guedira, Schéhérazade</style></author><author><style face="normal" font="default" size="100%">Boehlen, Françoise</style></author><author><style face="normal" font="default" size="100%">Borg, Jeanne-Yvonne</style></author><author><style face="normal" font="default" size="100%">Bottega, Roberta</style></author><author><style face="normal" font="default" size="100%">Bussel, James</style></author><author><style face="normal" font="default" size="100%">De Rocco, Daniela</style></author><author><style face="normal" font="default" size="100%">de Maistre, Emmanuel</style></author><author><style face="normal" font="default" size="100%">Faleschini, Michela</style></author><author><style face="normal" font="default" size="100%">Falcinelli, Emanuela</style></author><author><style face="normal" font="default" size="100%">Ferrari, Silvia</style></author><author><style face="normal" font="default" size="100%">Ferster, Alina</style></author><author><style face="normal" font="default" size="100%">Fierro, Tiziana</style></author><author><style face="normal" font="default" size="100%">Fleury, Dominique</style></author><author><style face="normal" font="default" size="100%">Fontana, Pierre</style></author><author><style face="normal" font="default" size="100%">James, Chloé</style></author><author><style face="normal" font="default" size="100%">Lanza, Francois</style></author><author><style face="normal" font="default" size="100%">Le Cam Duchez, Véronique</style></author><author><style face="normal" font="default" size="100%">Loffredo, Giuseppe</style></author><author><style face="normal" font="default" size="100%">Magini, Pamela</style></author><author><style face="normal" font="default" size="100%">Martin-Coignard, Dominique</style></author><author><style face="normal" font="default" size="100%">Menard, Fanny</style></author><author><style face="normal" font="default" size="100%">Mercier, Sandra</style></author><author><style face="normal" font="default" size="100%">Mezzasoma, Annamaria</style></author><author><style face="normal" font="default" size="100%">Minuz, Pietro</style></author><author><style face="normal" font="default" size="100%">Nichele, Ilaria</style></author><author><style face="normal" font="default" size="100%">Notarangelo, Lucia D</style></author><author><style face="normal" font="default" size="100%">Pippucci, Tommaso</style></author><author><style face="normal" font="default" size="100%">Podda, Gian Marco</style></author><author><style face="normal" font="default" size="100%">Pouymayou, Catherine</style></author><author><style face="normal" font="default" size="100%">Rigouzzo, Agnes</style></author><author><style face="normal" font="default" size="100%">Royer, Bruno</style></author><author><style face="normal" font="default" size="100%">Sie, Pierre</style></author><author><style face="normal" font="default" size="100%">Siguret, Virginie</style></author><author><style face="normal" font="default" size="100%">Trichet, Catherine</style></author><author><style face="normal" font="default" size="100%">Tucci, Alessandra</style></author><author><style face="normal" font="default" size="100%">Saposnik, Béatrice</style></author><author><style face="normal" font="default" size="100%">Veneri, Dino</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.</style></title><secondary-title><style face="normal" font="default" size="100%">Haematologica</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Haematologica</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</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%">Pregnancy</style></keyword><keyword><style  face="normal" font="default" size="100%">Pregnancy Complications, Hematologic</style></keyword><keyword><style  face="normal" font="default" size="100%">Retrospective Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Thrombocytopenia</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 Aug</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">99</style></volume><pages><style face="normal" font="default" size="100%">1387-94</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Neither the degree of thrombocytopenia nor the severity of bleeding tendency worsened during pregnancy and the course of pregnancy did not differ from that of healthy subjects in terms of miscarriages, fetal bleeding and pre-term births. The degree of thrombocytopenia in the babies was similar to that in the mother. Only 7 of 156 affected newborns had delivery-related bleeding, but 2 of them died of cerebral hemorrhage. The frequency of delivery-related maternal bleeding ranged from 6.8% to 14.2% depending on the definition of abnormal blood loss, suggesting that the risk of abnormal blood loss was increased with respect to the general population. However, no mother died or had to undergo hysterectomy to arrest bleeding. The search for parameters predicting delivery-related bleeding in the mother suggested that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery below 50 × 10(9)/L.&lt;/p&gt;</style></abstract><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/24763399?dopt=Abstract</style></custom1></record></records></xml>