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Haematologica

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https://www.readbyqxmd.com/read/28428270/mutations-in-the-adaptor-binding-domain-and-associated-linker-region-of-p110%C3%AE-cause-activated-pi3k-%C3%AE-syndrome-1-apds1
#1
Lucie Heurtier, Hicham Lamrini, Loïc Chentout, Marie-Céline Deau, Amine Bouafia, Jérémie Rosain, Jean-Marc Plaza, Mélanie Parisot, Benoit Dumont, Delphine Turpin, Etienne Merlin, Despina Moshous, Nathalie Aladjidi, Bénédicte Neven, Capucine Picard, Marina Cavazzana, Alain Fischer, Anne Durandy, Jean-Louis Stephan, Sven Kracker
No abstract text is available yet for this article.
April 20, 2017: Haematologica
https://www.readbyqxmd.com/read/28428269/low-frequency-mutations-in-ribosomal-proteins-rpl10-and-rpl5-in-multiple-myeloma
#2
Isabel Jf Hofman, Stephanie Patchett, Mark van Duin, Ellen Geerdens, Jelle Verbeeck, Lucienne Michaux, Michel Delforge, Pieter Sonneveld, Arlen W Johnson, Kim De Keersmaecker
No abstract text is available yet for this article.
April 20, 2017: Haematologica
https://www.readbyqxmd.com/read/28428268/salvage-use-of-allogeneic-hsct-after-reduced-intensity-conditioning-from-unrelated-donors-in-multiple-myeloma-a-study-by-the-plasma-cell-disorders-subcommittee-of-the-ebmt-chronic-malignancies-working-party
#3
Mohamad Sobh, Mauricette Michallet, Valerie Dubois, Simona Iacobelli, Linda Koster, Anja Van Biezen, Nathalie Fegueux, Reza Tabrizi, Jürgen Finke, Jean El-Cheikh, Martin Schipperus, Ellen Meijer, Peter von dem Borne, Eefke Petersen, Nigel Russell, Eleni Tholouli, Jakob Passweg, Frédé Ric Garban, Johan Maertens, Patrice Chevalier, Natacha Maillard, Liisa Volin, Sylvie Francois, Bruno Lioure, Yves Beguin, Eliane Gluckman, Annalisa Ruggeri, Laurent Garderet, Nicolaus Kröger
No abstract text is available yet for this article.
April 20, 2017: Haematologica
https://www.readbyqxmd.com/read/28411256/epigenetically-induced-ectopic-expression-of-uncx-impairs-the-proliferation-and-differentiation-of-myeloid-cells
#4
Giulia Daniele, Giogia Simonetti, Caterina Fusilli, Ilaria Iacobucci, Angelo Lonoce, Antonio Palazzo, Mariana Lomiento, Fabiana Mammoli, Rene' Massimiliano Marsano, Elena Marasco, Vilma Mantovani, Hilmar Quentmeier, Hans G Drexler, Jie Ding, Orazio Palumbo, Massimo Carella, Niroshan Nadarajah, Margherita Perricone, Emanuela Ottaviani, Carmen Baldazzi, Nicoletta Testoni, Cristina Papayannidis, Sergio Ferrari, Tommaso Mazza, Giovanni Martinelli, Clelia Tiziana Storlazzi
We here describe a leukemogenic role of the homeobox gene UNCX, activated by epigenetic modifications in acute myeloid leukemia. We found the ectopic activation of UNCX in a leukemia patient harboring a t(7;10)(p22;p14) translocation, in 22/61 of additional cases [a total of 23 positive patients out of 62 (37.1%)], and in 6/75 (8%) of acute myeloid leukemia cell lines. UNCX is embedded within a low-methylation region (canyon) and encodes for a transcription factor involved in somitogenesis and neurogenesis, with specific expression in the eye, brain, and kidney...
April 14, 2017: Haematologica
https://www.readbyqxmd.com/read/28411255/absence-of-the-spleen-and-the-occurrence-of-primary-red-cell-alloimmunization-in-humans
#5
Dorothea Evers, Johanna G van der Bom, Janneke Tijmensen, Masja de Haas, Rutger A Middelburg, Karen M K de Vooght, Daan van de Kerkhof, Otto Visser, Nathalie C V Péquériaux, Francisca Hudig, Jaap Jan Zwaginga
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April 14, 2017: Haematologica
https://www.readbyqxmd.com/read/28411254/safety-and-efficacy-of-romiplostim-in-splenectomized-and-nonsplenectomized-patients-with-primary-immune-thrombocytopenia
#6
Douglas B Cines, Jeffrey Wasser, Francesco Rodeghiero, Beng H Chong, Michael Steurer, Drew Provan, Roger Lyons, Jaime Garcia-Chavez, Nancy Carpenter, Xuena Wang, Melissa Eisen
Primary immune thrombocytopenia is an autoimmune disorder characterized by increased platelet destruction and insufficient platelet production without another identified underlying disorder. Splenectomy may alter responsiveness to treatment and/or increase the risk of thrombosis, infection, and pulmonary hypertension. This analysis evaluated the safety and efficacy of the thrombopoietin receptor agonist romiplostim in splenectomized and nonsplenectomized adults with primary immune thrombocytopenia. Data were pooled across 13 completed clinical studies in adults with immune thrombocytopenia from 2002-2014...
April 14, 2017: Haematologica
https://www.readbyqxmd.com/read/28411253/a-new-path-to-platelet-production-through-matrix-sensing
#7
Vittorio Abbonante, Christian Andrea Di Buduo, Cristian Gruppi, Carmelo De Maria, Elise Spedden, Aurora De Acutis, Cristian Staii, Mario Raspanti, Giovanni Vozzi, David Kaplan, Francesco Moccia, Katya Ravid, Alessandra Balduini
Megakaryocytes in the bone marrow are immersed in a network of extracellular matrix (ECM) components that regulate platelet release into the circulation. Combining biological and bioengineering approaches, we found that the activation of transient receptor potential cation channel subfamily V member 4 (TRPV4), a mechano-sensitive ion channel, is induced upon megakaryocyte adhesion on softer matrices. This response promoted platelet production by triggering a cascade of events that lead to calcium influx, β1 integrin activation and internalization, and Akt phosphorylation, responses not found on stiffer matrices...
April 14, 2017: Haematologica
https://www.readbyqxmd.com/read/28411252/prognostic-relevance-of-cd163-and-cd8-combined-with-ezh2-and-gain-of-chromosome-18-in-follicular-lymphoma-a-study-by-the-lunenburg-lymphoma-biomarker-consortium
#8
Wendy B C Stevens, Matias Mendeville, Robert Redd, Andrew J Clear, Reno Bladergroen, Maria Calaminici, Andreas Rosenwald, Eva Hoster, Wolfgang Hiddemann, Philippe Gaulard, Luc Xerri, Gilles Salles, Wolfram Klapper, Michael Phreundschuh, Andrew Jack, Randy D Gascoyne, Yasodha Natkunam, Ranjana Advani, Eva Kimby, Birgitta Sander, Laurie Sehn, Anton Hagenbeek, John Raemaekers, John Gribben, Marie Jose' Kersten, Bauke Ylstra, Edie Weller, Daphne de Jong
In follicular lymphoma, studies addressing the prognostic value of microenvironment-related immunohistochemical markers and tumor cell-related genetic markers have yielded conflicting results, precluding implementation in practice. Therefore, the Lunenburg Lymphoma Biomarker Consortium performed a validation study evaluating published markers. To maximize sensitivity, an end-of-spectrum design was applied for 122 uniformly immunochemotherapy-treated follicular lymphoma patients retrieved from international trials and registries; early failure: progression or lymphoma-related death <2 years versus long remission: response duration of >5 years...
April 14, 2017: Haematologica
https://www.readbyqxmd.com/read/28411251/an-extracellular-matrix-signature-in-leukemia-precursor-cells-and-acute-myeloid-leukemia
#9
Valerio Izzi, Juho Lakkala, Raman Devarajan, Heli Ruotsalainen, Eeva-Riitta Savolainen, Pirjo Koistinen, Ritva Heljasvaara, Taina Pihlajaniemi
No abstract text is available yet for this article.
April 14, 2017: Haematologica
https://www.readbyqxmd.com/read/28385786/host-virus-and-pneumococcus-specific-immune-responses-in-high-count-monoclonal-b-cell-lymphocytosis-and-chronic-lymphocytic-leukemia-implications-for-disease-progression
#10
Ignacio Criado, Santiago Muñoz-Criado, Arancha Rodríguez-Caballero, Wendy G Nieto, Alfonso Romero, Paulino Fernández-Navarro, Miguel Alcoceba, Teresa Contreras, Marcos González, Alberto Orfao, Julia Almeida
Patients diagnosed with chronic lymphocytic leukemia display a high incidence of infections due to an associated immunodeficiency that includes hypogammaglobulinemia. A higher risk of infections has also been recently reported for high-count monoclonal B-cell lymphocytosis, while no information is available in low-count monoclonal B-cell lymphocytosis. Here, we evaluated the status of the humoral immune system in patients with chronic lymphocytic leukemia (n=58), as well as in low- (n=71) and high-count (n=29) monoclonal B-cell lymphocytosis vs...
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385785/imatinib-and-spironolactone-suppress-hepcidin-expression
#11
Katarzyna Mleczko-Sanecka, Ana Rita da Silva, Debora Call, Joana Neves, Nikolai Schmeer, Georg Damm, Daniel Seehofer, Martina U Muckenthaler
Disorders of iron metabolism are largely attributed to an excessive or insufficient expression of hepcidin, the master regulator of systemic iron homeostasis. Here, we investigated whether drugs targeting genetic regulators of hepcidin can affect iron homeostasis. We focused our efforts on drugs approved for clinical use to enable repositioning strategies and/or to reveal iron-related side effects of widely prescribed therapeutics. To identify hepcidin-modulating therapeutics, we reevaluated data generated by a genome-wide RNAi screen for hepcidin regulators...
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385784/the-endothelin-b-receptor-plays-a-crucial-role-for-the-adhesion-of-neutrophils-to-the-endothelium-in-sickle-cell-disease
#12
Bérengère Koehl, Pierre Nivoit, Wassim El Nemer, Olivia Lenoir, Patricia Hermand, Catia Pereira, Valentine Brousse, Léa Guyonnet, Giulia Ghinatti, Malika Benkerrou, Yves Colin, Caroline Le Van Kim, Pierre-Louis Tharaux
Although the primary origin of sickle cell disease is a hemoglobin disorder, several cell types contribute considerably to the physiopathology of the disease. The adhesion of neutrophils to activated endothelium is critical in sickle cell disease pathophysiology and the targeting of neutrophils and their interactions with endothelium represent important opportunities for new therapeutics. We focused on endothelin-1, a mediator involved in neutrophil activation and recruitment in tissues, and we investigated the involvement of the endothelin receptors in interaction of neutrophils with endothelial cells...
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385783/bleeding-risk-of-surgery-and-its-prevention-in-patients-with-inherited-platelet-disorders-the-surgery-in-platelet-disorders-and-therapeutic-approach-spata-study
#13
Sara Orsini, Patrizia Noris, Loredana Bury, Paula G Heller, Cristina Santoro, Rezan A Kadir, Nora C Butta, Emanuela Falcinelli, Ana Rosa Cid, Fabrizio Fabris, Marc Fouassier, Koji Miyazaki, Maria Luisa Lozano, Pamela Zuñiga, Claire Flaujac, Gian Marco Podda, Nuria Bermejo, Remi Favier, Yvonne Henskens, Emmanuel De Maistre, Erica De Candia, Andrew D Mumford, Nihal G Ozdemir, Ibrahim Eker, Paquita Nurden, Sophie Bayart, Michele P Lambert, James Bussel, Barbara Zieger, Alberto Tosetto, Federica Melazzini, Ana C Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, Paolo Gresele
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders (IPD), however very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We performed a multicentric, retrospective worldwide study to assess the bleeding complications of surgery, the preventive and therapeutic approaches adopted and their efficacy in patients with IPDs by rating the outcome of 829 surgical procedures carried out in 423 patients with well defined forms of IPD (238 inherited platelet function disorders -IPFD- and 185 inherited platelet number disorders-IPND-)...
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385782/inhibition-of-monocarboxylate-transporter-1-by-azd3965-as-a-novel-therapeutic-approach-for-the-treatment-of-diffuse-large-b-cell-lymphoma-and-burkitt-lymphoma
#14
Richard A Noble, Natalie Bell, Helen Blair, Arti Sikka, Huw Thomas, Nicole Phillips, Sirintra Nakjang, Satomi Miwa, Rachel Crossland, Vikki Rand, Despina Televantou, Anna Long, Hector C Keun, Chris M Bacon, Simon Bomken, Susan E Critchlow, Stephen R Wedge
Inhibition of monocarboxylate transporter 1 has been proposed as a therapeutic approach to perturb lactate shuttling in tumor cells that lack monocarboxylate transporter 4. We examined the monocarboxylate transporter 1 inhibitor AZD3965, currently in phase I clinical studies, as a potential therapy for diffuse large B-cell lymphoma and Burkitt lymphoma. Whilst extensive monocarboxylate transporter 1 protein was found in 120 diffuse large B-cell lymphoma and 10 Burkitt lymphoma patient tumors, monocarboxylate transporter 4 protein expression was undetectable in 73% of the diffuse large B-cell lymphoma samples and undetectable or negligible in each Burkitt lymphoma sample...
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385781/monitoring-of-multiple-myeloma-by-quantification-of-recurrent-mutations-in-serum
#15
Even Holth Rustad, Eivind Coward, Emilie R Skytøen, Kristine Misund, Toril Holien, Therese Standal, Magne Børset, Vidar Beisvag, Ola Myklebost, Leonardo A Meza-Zepeda, Hong Yan Dai, Anders Sundan, Anders Waage
Circulating tumor DNA (ctDNA) is a promising biomarker to monitor tumor load and genome alterations. We have explored the presence of ctDNA in multiple myeloma patients and its relation to disease activity during long-term follow-up. We used digital droplet PCR to monitor recurrent mutations, mainly in mitogen activated protein kinase pathway genes NRAS, KRAS and BRAF. Mutations were identified by next generation sequencing or PCR of bone marrow plasma cells, and their presence analyzed in 251 archived serum samples obtained from 20 patients during up to 7 years...
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385780/enhanced-calreticulin-expression-in-red-cells-of-polycythemia-vera-patients-harboring-the-jak2v617f-mutation
#16
Mégane Brusson, Sylvie Cochet, Marjorie Leduc, François Guillonneau, Patrick Mayeux, Thierry Peyrard, Christine Chomienne, Caroline Le Van Kim, Bruno Cassinat, Jean-Jacques Kiladjian, Wassim El Nemer
No abstract text is available yet for this article.
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385779/role-of-mir-15a-mir-16-1-and-tp53-axis-in-regulating-telomerase-expression-in-chronic-lymphocytic-leukemia
#17
Enrica Rampazzo, Engin Bojnik, Livio Trentin, Laura Bonaldi, Paola Del Bianco, Federica Frezzato, Andrea Visentin, Monica Facco, Gianpietro Semenzato, Anita De Rossi
No abstract text is available yet for this article.
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385778/double-autophagy-stimulation-using-chemotherapy-and-mtor-inhibition-combined-with-hydroxychloroquine-for-autophagy-modulation-in-patients-with-relapsed-or-refractory-multiple-myeloma
#18
Emma C Scott, Richard T Maziarz, Stephen E Spurgeon, Eva Medvedova, James Gajewski, Shara Reasor-Heard, Byung Park, Anne Kratz, George V Thomas, Marc Loriaux, Michael Cascio, Jennifer Podolak, Miranda Gordon, Jennifer Botelho, Edward Stadtmauer, Ravi Amaravadi, Dan T Vogl
No abstract text is available yet for this article.
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28385777/both-mucosal-associated-invariant-and-natural-killer-t-cell-deficiency-in-multiple-myeloma-can-be-countered-by-pd-1-inhibition
#19
Mérédis Favreau, Koen Venken, Sylvia Faict, Ken Maes, Kim De Veirman, Elke De Bruyne, Xavier Leleu, Louis Boon, Dirk Elewaut, Karin Vanderkerken, Eline Menu
No abstract text is available yet for this article.
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28360149/notch1-mutation-tp53-alteration-and-myeloid-antigen-expression-predict-outcome-heterogeneity-in-children-with-first-relapse-of-t-cell-acute-lymphoblastic-leukemia
#20
Jana Hof, Corinne Kox, Stefanie Groeneveld-Krentz, Obul R Bandapalli, Leonid Karawajew, Katharina Schedel, Joachim B Kunz, Cornelia Eckert, Wolf-Dieter Ludwig, Richard Ratei, Peter Rhein, Günter Henze, Martina U Muckenthaler, Andreas E Kulozik, Arend von Stackelberg, Renate Kirschner-Schwabe
No abstract text is available yet for this article.
March 30, 2017: Haematologica
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