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Haematologica

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https://www.readbyqxmd.com/read/27909223/exome-sequencing-identified-rps15a-as-a-novel-causative-gene-for-diamond-blackfan-anemia
#1
Fumika Ikeda, Kenichi Yoshida, Tsutomu Toki, Tamayo Uechi, Shiori Ishida, Yukari Nakajima, Yoji Sasahara, Yusuke Okuno, Rika Kanezaki, Kiminori Terui, Takuya Kamio, Akie Kobayashi, Takashi Fujita, Aiko Sato-Otsubo, Yuichi Shiraishi, Hiroko Tanaka, Kenichi Chiba, Hideki Muramatsu, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Naoya Kenmochi, Satoru Miyano, Seishi Ogawa, Etsuro Ito
No abstract text is available yet for this article.
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27909222/associations-between-environmental-factors-and-hospital-admissions-for-sickle-cell-disease
#2
Frédéric B Piel, Sanjay Tewari, Valentine Brousse, Antonis Analitis, Anna Font, Stephan Menzel, Subarna Chakravorty, Swee Lay Thein, Baba Inusa, Paul Telfer, Marianne de Montalembert, Gary W Fuller, Klea Katsouyanni, David C Rees
Sickle cell disease (SCD) is an increasing global health burden. This inherited disease is characterised by a remarkable phenotypic heterogeneity, which can only partly be explained by genetic factors. Environmental factors are likely to play an important role but studies of their impact on disease severity are limited and their results are often inconsistent. This study investigated associations between a range of environmental factors and hospital admissions of young patients with SCD in London and in Paris between 2008 and 2012...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27909221/factors-related-to-diffuse-large-b-cell-lymphoma-relative-survival-in-a-population-based-study-in-france-is-there-a-role-of-socio-economic-status
#3
Sandra Le Guyader-Peyrou, Sebastien Orazio, Olivier Dejardin, Marc Maynadie, Xavier Troussard, Alain Monnereau
Due to addition of anti-CD20 to anthracycline-based chemotherapy, survival of diffuse large B-cell lymphoma increased during the last decade. Although these trends are encouraging, there are still persistent differences in survival within and between US and European countries suggesting the role of non-biological factors. Our aim was to investigate the influence of such factors on relative survival of diffuse large B-cell lymphoma patients. We conducted a retrospective multicenter registry-based study in France, between 2002 and 2008, on 1165 incident cases of diffuse large B-cell lymphoma Relative survival analyses were performed and data missing were controlled with multiple imputation method...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27909220/role-of-serum-free-light-chain-assay-in-the-detection-of-early-relapse-and-prediction-of-prognosis-after-relapse-in-multiple-myeloma-patients-treated-upfront-with-novel-agents
#4
Paola Tacchetti, Annalisa Pezzi, Elena Zamagni, Lucia Pantani, Serena Rocchi, Beatrice Anna Zannetti, Katia Mancuso, Ilaria Rizzello, Michele Cavo
No abstract text is available yet for this article.
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27909219/superior-survival-of-ex-vivo-cultured-human-reticulocytes-following-transfusion-into-mice
#5
Sabine Kupzig, Stephen F Parsons, Elinor Curnow, David J Anstee, Allison Blair
The generation of cultured red blood cells from stem cell sources may fill an unmet clinical need for transfusion dependent patients, particularly in countries that lack a sufficient and safe blood supply. Cultured red blood cells were generated from human CD34+ cells from adult peripheral blood or cord blood by ex vivo expansion and a comprehensive in vivo survival comparison with standard red cell concentrates was undertaken. Significant amplification (>105 fold) was achieved using CD34+ cells from both cord blood and peripheral blood, generating high yields of enucleated cultured red blood cells...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27909218/erythrocyte-survival-is-controlled-by-microrna-142
#6
Natalia Rivkin, Elik Chapnik, Alexander Mildner, Gregory Barshtein, Ziv Porat, Elena Kartvelishvily, Tali Dadosh, Yehudit Birger, Gail Amir, Saul Yedgar, Shai Izraeli, Steffen Jung, Eran Hornstein
Hematopoietic-specific miR-142 is critical regulator of various blood cell lineages, but its role in erythrocytes is unexplored. Here, we characterize miR-142 impact on erythrocyte physiology and molecular cell biology, using a mouse loss of function allele. We report that miR-142 is required for maintaining the typical erythrocyte biconcave shape and structural resilience, for normal metabolism of reactive oxygen species (ROS) and for overall lifespan. miR-142 further controls actin filament homeostasis and membrane skeleton organization...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27909217/the-small-foxp1-isoform-predominantly-expressed-in-activated-b-cell-like-diffuse-large-b-cell-lymphoma-and-full-length-foxp1-exert-similar-oncogenic-and-transcriptional-activity-in-human-b-cells
#7
Martine van Keimpema, Leonie J Grüneberg, Esther J M Schilder-Tol, Monique E C M Oud, Esther Beuling, Paul J Hensbergen, Johann de Jong, Steven T Pals, Marcel Spaargaren
The forkhead transcription factor FOXP1 is generally regarded as an oncogene in activated B cell-like diffuse large B-cell lymphoma. Previous studies have suggested that a small isoform of FOXP1 (FOXP1-iso), rather than full-length FOXP1 (FOXP1-FL), may possess this oncogenic activity. Corroborating those studies, we here show that activated B cell-like diffuse large B-cell lymphoma cell-lines and primary activated B cell-like diffuse large B-cell lymphoma cells predominantly express FOXP1-iso and that the 5-end of the Foxp1 gene is a common insertion site in murine lymphomas in leukaemia virus- and transposon-mediated insertional mutagenesis screens...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27909216/molecular-determinants-of-pathogenesis-and-clinical-phenotype-in-myeloproliferative-neoplasms
#8
Jacob Grinfeld, Jyoti Nangalia, Anthony R Green
The myeloproliferative neoplasms are a heterogeneous group of clonal disorders characterised by overproduction of mature cells in the peripheral blood, together with an increased risk of thrombosis and progression to acute myeloid leukemia. The majority of patients with Philadelphia-chromosome negative myeloproliferative neoplasms harbour somatic mutations in Janus kinase 2, leading to constitutive activation. Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythaemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27909215/cure-for-thalassemia-major-from-allogeneic-hematopoietic-stem-cell-transplantation-to-gene-therapy
#9
Alok Srivastava, Ramachandran V Shaji
Allogeneic hematopoietic stem cell transplantation has been established for several decades as a gene replacement therapy for patients with thalassemia major and now offers very high rates of cure to those who are able to access this therapy. Outcomes have improved tremendously over the last decade even in high-risk patients. The limited data available suggests that the long-term outcome is also excellent with >90% survival but for best results, hematopoietic stem cell transplantation should be offered early before any end organ damage occurs...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27884975/different-clinical-characteristics-of-paroxysmal-nocturnal-hemoglobinuria-in-pediatric-and-adult-patients
#10
Alvaro Urbano-Ispizua, Petra Muus, Hubert Schrezenmeier, Antonio Almeida, Amanda Wilson, Russell E Ware
No abstract text is available yet for this article.
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27884974/from-leeches-to-personalized-medicine-evolving-concepts-in-the-management-of-polycythemia-vera
#11
Alessandro Maria Vannucchi
Polycythemia vera (PV), a clonal disorders of hematopoietic stem/progenitor cells that manifests with prevalent expansion of red cell mass, is the most frequent among chronic myeloproliferative neoplasms (MPN). It is characterized by a V617F point mutation in JAK2 exon 14 , or less common mutations in exon 12, in virtually all cases. The landmark discovery of autonomously activated JAK/STAT signaling pathway paved the way for the clinical development of the first target drug, the JAK1 and JAK2 inhibitor ruxolitinib, that is now approved for patients with resistance or intolerance to hydroxyurea...
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27884973/the-emerging-role-of-immune-checkpoint-inhibition-in-malignant-lymphoma
#12
Ida Hude, Stephanie Sasse, Andreas Engert, Paul J Bröckelmann
To evade elimination by the host immune system, tumor cells commonly exploit physiological immune checkpoint pathways, restraining efficient anti-tumor immune cell function. Growing understanding of the complex dialog between tumor cells and their microenvironment contributed to the development of immune checkpoint inhibitors. This innovative strategy has demonstrated paradigm-shifting clinical activity in various malignancies. Antibodies targeting programmed death 1 and cytotoxic T-lymphocyte-associated protein-4 are also being investigated in lymphoid malignancies with varying levels of activity and a favorable toxicity profile...
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27884972/increased-serum-hepcidin-contributes-to-the-anemia-of-chronic-kidney-disease-in-a-murine-model
#13
Mark R Hanudel, Maxime Rappaport, Victoria Gabayan, Grace Jung, Isidro B Salusky, Elizabeta Nemeth, Tomas Ganz, Joshua Zaritsky
No abstract text is available yet for this article.
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27884971/progression-in-patients-with-low-and-intermediate1-risk-del-5q-myelodysplastic-syndromes-is-predicted-by-a-limited-subset-of-mutations
#14
Christian Scharenberg, Valentina Giai, Andrea Pellagatti, Leonie Saft, Marios Dimitriou, Monica Jansson, Martin Jädersten, Alf Grandien, Iyadh Douagi, Donna S Neuberg, Katarina LeBlanc, Jacqueline Boultwood, Mohsen Karimi, Sten Eirik W Jacobsen, Petter S Woll, Eva Hellström-Lindberg
A high proportion of patients with lower-risk del(5q) myelodysplastic syndromes (MDS) will respond to treatment with lenalidomide. Median duration of transfusion-independence is 2 years with some long-lasting responses, but almost 40% of patients progress to acute leukemia by 5 years after start of treatment. Mechanisms underlying disease progression other than the well-established finding of small TP53-mutated subclones at diagnosis remain unclear. We studied a longitudinal cohort of 35 low- and intermediate-1-risk del(5q) patients treated with lenalidomide (n=22) or not (n=13) by flow cytometric surveillance of hematopoietic stem and progenitor cells (HSPC) subsets, targeted sequencing of mutational patterns, and changes in the bone marrow microenvironment...
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27856512/invasive-fungal-infections-in-chronic-lymphoproliferative-disorders-a-monocentric-retrospective-study
#15
Maria Chiara Tisi, Stefan Hohaus, Annarosa Cuccaro, Idanna Innocenti, Elena De Carolis, Tommaso Za, Francesco D' Alò, Luca Laurenti, Luana Fianchi, Simona Sica, Maurizio Sanguinetti, Valerio De Stefano, Livio Pagano
No abstract text is available yet for this article.
November 17, 2016: Haematologica
https://www.readbyqxmd.com/read/27856511/extracellular-vesicles-released-from-chronic-lymphocytic-leukemia-cells-exhibit-a-disease-relevant-mrna-signature-and-transfer-mrnas-to-bystander-cells
#16
Katrin S Reiners, Olga Shatnyeva, Elena Vasyutina, Teresa Bösl, Hinrich P Hansen, Michael Hallek, Marco Herling, Elke Pogge von Strandmann
No abstract text is available yet for this article.
November 17, 2016: Haematologica
https://www.readbyqxmd.com/read/27856510/response-dynamics-of-pediatric-patients-with-chronic-myeloid-leukemia-on-imatinib-therapy
#17
Rick Proschmann, Christoph Baldow, Tino Rothe, Meinolf Suttorp, Christian Thiede, Josephine T Tauer, Martin C Müller, Andreas Hochhaus, Ingo Roeder, Ingmar Glauche
No abstract text is available yet for this article.
November 17, 2016: Haematologica
https://www.readbyqxmd.com/read/27810994/decreased-numbers-of-dense-granules-in-fetal-and-neonatal-platelets
#18
Denisa Urban, Fred G Pluthero, Hilary Christensen, Shoma Baidya, Margaret L Rand, Animitra Das, Prakeshkumar S Shah, David Chitayat, Victor S Blanchette, Walter H A Kahr
No abstract text is available yet for this article.
November 3, 2016: Haematologica
https://www.readbyqxmd.com/read/27810993/evaluation-of-bone-marrow-morphology-is-essential-for-assessing-disease-status-in-recombinant-interferon-alpha-treated-polycythemia-vera-patients
#19
Elizabeth Margolskee, Spencer Krichevsky, Attilio Orazi, Richard T Silver
No abstract text is available yet for this article.
November 3, 2016: Haematologica
https://www.readbyqxmd.com/read/27810992/small-molecule-factor-d-inhibitors-selectively-block-the-alternative-pathway-of-complement-in-paroxysmal-nocturnal-hemoglobinuria-and-atypical-hemolytic-uremic-syndrome
#20
Xuan Yuan, Eleni Gavriilaki, Jane A Thanassi, Guangwei Yang, Andrea C Baines, Steven D Podos, Yongqing Huang, Mingjun Huang, Robert A Brodsky
Paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome are diseases of excess activation of the alternative pathway of complement that are treated with eculizumab, a humanized monoclonal antibody against the terminal complement component C5. Eculizumab must be administered intravenously, and moreover some patients with paroxysmal nocturnal hemoglobinuria on eculizumab have symptomatic extravascular hemolysis, indicating an unmet need for additional therapeutic approaches. We report the activity of two novel small-molecule inhibitors of the alternative pathway component factor D using in vitro correlates of both paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome...
November 3, 2016: Haematologica
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