Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.

abstract：:The discovery that the Ten-Eleven Translocation (TET) hydroxylases cause DNA demethylation has fundamentally changed the notion of how DNA methylation is regulated. Clonal analysis of the hematopoetic stem cell compartment suggests that TET2 mutations can be early events in hematologic cancers and recent investigation...

journal_title：Haematologica

authors： Asmar F,Punj V,Christensen J,Pedersen MT,Pedersen A,Nielsen AB,Hother C,Ralfkiaer U,Brown P,Ralfkiaer E,Helin K,Grønbæk K

更新日期：2013-12-01 00:00:00

abstract：:Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this disorder and showe...

journal_title：Haematologica

authors： Darghouth D,Koehl B,Heilier JF,Madalinski G,Bovee P,Bosman G,Delaunay J,Junot C,Roméo PH

更新日期：2011-12-01 00:00:00

abstract：:HLA molecules play an important role for immunoreactivity in allogeneic hematopoietic stem cell transplantation. To elucidate the effect of specific HLA alleles on acute graft-versus-host disease, we conducted a retrospective analysis using 6967 Japanese patients transplanted with T-cell-replete marrow from an unrelat...

journal_title：Haematologica

authors： Morishima S,Kashiwase K,Matsuo K,Azuma F,Yabe T,Sato-Otsubo A,Ogawa S,Shiina T,Satake M,Saji H,Kato S,Kodera Y,Sasazuki T,Morishima Y,Japan Marrow Donor Program.

更新日期：2016-04-01 00:00:00

abstract：:The long-term repopulating capacity of mobilized peripheral blood (MPB) CD34+ cells can be abrogated during ex vivo expansion due to cell-cycle related changes. In this study, we traced cell cycle kinetic and quiescent status of CD34+ cells during ex vivo expansion with exogenous cytokines. The addition of interleukin...

journal_title：Haematologica

authors： Sanchez-Garcia J,Torres A,Herrera C,Alvarez MA

更新日期：2006-01-01 00:00:00

abstract：:A case of stiff-man syndrome (SMS), a rare and dramatic CNS disease characterized by continuous muscle activity and painful spasms resembling a chronic form of tetanus, occurring in a patient with Hodgkin's disease (HD) is reported. The patient developed the clinical features of SMS at the same time as the HD relapse....

journal_title：Haematologica

authors： Ferrari P,Federico M,Grimaldi LM,Silingardi V

更新日期：1990-11-01 00:00:00

abstract：:Hematopoietic differentiation is driven by transcription factors, which orchestrate a finely tuned transcriptional network. At bipotential branching points lineage decisions are made, where key transcription factors initiate cell type-specific gene expression programs. These programs are stabilized by the epigenetic a...

journal_title：Haematologica

authors： Herkt SC,Kuvardina ON,Herglotz J,Schneider L,Meyer A,Pommerenke C,Salinas-Riester G,Seifried E,Bonig H,Lausen J

更新日期：2018-01-01 00:00:00

abstract：:Granulocyte colony-stimulating factor (G-CSF) can be administered after a peripheral blood stem cell transplantation with the aim of accelerating neutrophil recovery. In a randomized, single-blind study we studied a new administration schedule of G-CSF in this context. ...

journal_title：Haematologica

authors： Piccirillo N,De Matteis S,Sorà F,d'Onofrio G,Leone G,Sica S

更新日期：2004-09-01 00:00:00

abstract：:Patients with refractory or relapsed and refractory multiple myeloma who no longer receive benefit from novel agents have limited treatment options and short expected survival. del(17p) and t(4;14) are correlated with shortened survival. The phase 3 MM-003 trial demonstrated significant progression-free and overall su...

journal_title：Haematologica

authors： Dimopoulos MA,Weisel KC,Song KW,Delforge M,Karlin L,Goldschmidt H,Moreau P,Banos A,Oriol A,Garderet L,Cavo M,Ivanova V,Alegre A,Martinez-Lopez J,Chen C,Spencer A,Knop S,Bahlis NJ,Renner C,Yu X,Hong K,Sternas L,

更新日期：2015-10-01 00:00:00

abstract：:Extramedullary (EM) disease in patients with acute myeloid leukemia (AML) is a known phenomenon. Since the prevalence of EM AML has so far only been clinically determined on examination, we performed a prospective study in patients with AML. The aim of the study was to determine the prevalence of metabolically active ...

journal_title：Haematologica

authors： Stölzel F,Lüer T,Löck S,Parmentier S,Kuithan F,Kramer M,Alakel NS,Sockel K,Taube F,Middeke JM,Schetelig J,Röllig C,Paulus T,Kotzerke J,Ehninger G,Bornhäuser M,Schaich M,Zoephel K

更新日期：2020-06-01 00:00:00

abstract：:Over the past 20 years we have studied 1781 patients with beta-thalassemia syndromes of which 1481 Yugoslav, 166 Bulgarian, 102 Turkish and 32 Albanian. In this paper we summarize the data on the heterogeneity and molecular basis of beta-thal, delta beta-thal and Lepore hemoglobinopathy in these four nationalities liv...

journal_title：Haematologica

authors： Efremov GD

更新日期：1990-09-01 00:00:00

abstract：:The present study reports a method for the easy, rapid and cost effective detection of heterozygous large deletions. As a model gene all exons of the antithrombin gene were amplified in a one tube multiplex polymerase chain reaction (PCR) and the products separated according to their size by reverse-phase ion-pair hig...

journal_title：Haematologica

authors： Pavlova A,El-Maarri O,Luxembourg B,Lindhoff-Last E,Kochhan L,Bruhn HD,Delev D,Watzka M,Seifried E,Oldenburg J

更新日期：2006-09-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:CD20 has been proposed as a novel suicide gene system for the treatment of graft-versus-host disease (GVHD), a fatal complication of allogeneic bone marrow transplantation: indeed expression of the human non-immunogenic exogenous CD20 protein allows positive immunoselection of transduced cells...

journal_title：Haematologica

authors： Serafini M,Bonamino M,Golay J,Introna M

更新日期：2004-01-01 00:00:00

abstract：BACKGROUND:Interleukin-17A is the signature cytokine of the Th17 subset and drives inflammatory pathology, but its relevance to autoantibody-mediated diseases is unclear. Th1 cells secreting interferon-γ have been implicated in autoimmune hemolytic anemia, so the aim was to determine which cytokine is more closely asso...

journal_title：Haematologica

authors： Hall AM,Zamzami OM,Whibley N,Hampsey DP,Haggart AM,Vickers MA,Barker RN

更新日期：2012-10-01 00:00:00

abstract：:Myeloproliferative neoplasms are uncommon disorders in children, for which we have limited understanding of the pathogenesis and optimal management. JAK2 and MPL mutations, while common drivers of myeloproliferative neoplasms in adult patients, are not clearly linked to pediatric disease. Management and clinical outco...

journal_title：Haematologica

authors： Kucine N,Chastain KM,Mahler MB,Bussel JB

更新日期：2014-04-01 00:00:00

abstract：:Outcome of patients with primary refractory acute myeloid leukemia remains unsatisfactory. We conducted a prospective phase II clinical trial with gemtuzumab ozogamicin (3 mg/m(2) intravenously on day 1), all-trans retinoic acid (45 mg/m(2) orally on days 4-6 and 15 mg/m(2) orally on days 7-28), high-dose cytarabine (...

journal_title：Haematologica

authors： Hütter-Krönke ML,Benner A,Döhner K,Krauter J,Weber D,Moessner M,Köhne CH,Horst HA,Schmidt-Wolf IG,Rummel M,Götze K,Koller E,Petzer AL,Salwender H,Fiedler W,Kirchen H,Haase D,Kremers S,Theobald M,Matzdorff AC,Ganse

更新日期：2016-07-01 00:00:00

abstract：:Fludarabine-cyclophosphamide-rituximab is the most efficient first-line treatment for chronic lymphocytic leukemia patients. Many dose adjustments of the original MD Anderson Cancer Center regimen have been proposed. However, whether fludarabine-cyclophosphamide-rituximab relative dose intensity may have an impact on ...

journal_title：Haematologica

authors： Bouvet E,Borel C,Obéric L,Compaci G,Cazin B,Michallet AS,Laurent G,Ysebaert L

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:Light chain amyloidosis is a rare plasma cell dyscrasia. Interphase fluorescence in situ hybridization (FISH) coupled to cytoplasmic staining of specific Ig (cIg-FISH) on bone marrow plasma cells has become well established in the initial evaluation of multiple myeloma, a related disorder. Little, however, i...

journal_title：Haematologica

authors： Bryce AH,Ketterling RP,Gertz MA,Lacy M,Knudson RA,Zeldenrust S,Kumar S,Hayman S,Buadi F,Kyle RA,Greipp PR,Lust JA,Russell S,Rajkumar SV,Fonseca R,Dispenzieri A

更新日期：2009-03-01 00:00:00

abstract：:Transcriptional profiling of hematopoietic cell subpopulations has helped characterize the developmental stages of the hematopoietic system and the molecular bases of malignant and non-malignant blood diseases for the past three decades. Previously, only the genes targeted by expression microarrays could be profiled g...

journal_title：Haematologica

authors： Grassi L,Izuogu OG,Jorge NA,Seyres D,Bustamante M,Burden F,Farrow S,Farahi N,Martin FJ,Frankish A,Mudge JM,Kostadima M,Petersen R,Lambourne JJ,Rowlston S,Martin-Rendon E,Clarke L,Downes K,Estivill X,Flicek P,Marte

更新日期：2020-07-23 00:00:00

abstract：:Phase I/II studies of gemtuzumab ozogamicin (GO) in pediatric refractory/relapsed acute myeloid leukemia (AML) have been reported. We present the cases of two children with relapsed AML who were treated with GO plus cytarabine, leading to a decrease of minimal residual disease down to levels not previously obtained. T...

journal_title：Haematologica

authors： Brethon B,Auvrignon A,Cayuela JM,Lapillonne H,Leverger G,Baruchel A

更新日期：2006-03-01 00:00:00

abstract：BACKGROUND:Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2 V617F mutation is observed in >95% of patients, but an as yet unidentified process appears to initiate the clonal expansion of hematopoiesis. Because microRNA regulate hematopoietic differentiation, we hypothesized that dysregul...

journal_title：Haematologica

authors： Bruchova H,Merkerova M,Prchal JT

更新日期：2008-07-01 00:00:00

abstract：:Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematopoietic neoplasm whose immunophenotype remains incompletely characterized, particularly in terms of distinction from reactive plasmacytoid dendritic cells (PDCs). This limitation complicates detection of low-level involvement by BPDCN as well as mini...

journal_title：Haematologica

authors： Wang W,Khoury JD,Miranda RN,Jorgensen JL,Xu J,Loghavi S,Li S,Pemmaraju N,Nguyen T,Medeiros LJ,Wang SA

更新日期：2020-04-02 00:00:00

abstract：:Multiple myeloma management has undergone profound changes in the past thanks to advances in our understanding of the disease biology and improvements in treatment and supportive care approaches. This article presents recommendations of the European Myeloma Network for newly diagnosed patients based on the GRADE syste...

journal_title：Haematologica

authors： Engelhardt M,Terpos E,Kleber M,Gay F,Wäsch R,Morgan G,Cavo M,van de Donk N,Beilhack A,Bruno B,Johnsen HE,Hajek R,Driessen C,Ludwig H,Beksac M,Boccadoro M,Straka C,Brighen S,Gramatzki M,Larocca A,Lokhorst H,Magar

更新日期：2014-02-01 00:00:00

abstract：BACKGROUND:Transplantation from an HLA-matched sibling is the treatment of choice for young patients with acquired severe aplastic anemia. For older patients, the acceptable upper age limit for transplantation as first-line treatment varies. The current analysis, therefore, sought to identify age or ages at transplanta...

journal_title：Haematologica

authors： Gupta V,Eapen M,Brazauskas R,Carreras J,Aljurf M,Gale RP,Hale GA,Ilhan O,Passweg JR,Ringdén O,Sabloff M,Schrezenmeier H,Socié G,Marsh JC

更新日期：2010-12-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Although acquired aplastic anemia is usually a chronic disorder, a small proportion of patients with aplastic anemia was reported to recover spontaneously without specific therapy such as allogeneic bone marrow transplantation or immunosuppressive treatment. We attempted to determine the rate ...

journal_title：Haematologica

authors： Lee JH,Lee JH,Shin YR,Lee JS,Kim WK,Chi HS,Park CJ,Lee KH

更新日期：2001-09-01 00:00:00

abstract：:Signaling through the αβT cell receptor (TCR) is a crucial determinant of T-cell fate and can induce two opposite outcomes during thymocyte development: cell death or survival and differentiation. To date, the role played by T-cell receptor in the oncogenic transformation of developing T cells remains unclear. Here we...

journal_title：Haematologica

authors： Gon S,Loosveld M,Crouzet T,Potier D,Bonnet M,Morin SO,Michel G,Vey N,Nunès JA,Malissen B,Roncagalli R,Nadel B,Payet-Bornet D

更新日期：2018-06-01 00:00:00

abstract：:HTLV-1 infections and their associated diseases are very rare in Italy, as well as in most parts of Europe, occurring prevalently in subjects related to endemic areas. The HTLV-1-associated leukemia/lymphoma, ATLL, is a very aggressive T-cell non-Hodgkin's lymphoma which can be difficult to recognize in non-endemic ar...

journal_title：Haematologica

authors： Menin C,Bulian P,Filippi F,Buttarello M,Casado C,Lopez-Galindez C,De Rossi A,Chieco-Bianchi L,Del Mistro A

更新日期：2003-07-01 00:00:00

abstract：BACKGROUND:Research on prognostically relevant immunohistochemical markers in diffuse large B-cell lymphomas has mostly been performed on retrospectively collected clinical data. This is also true for immunohistochemical classifiers that are thought to reflect the cell-of-origin subclassification of gene expression stu...

journal_title：Haematologica

authors： Bernd HW,Ziepert M,Thorns C,Klapper W,Wacker HH,Hummel M,Stein H,Hansmann ML,Ott G,Rosenwald A,Müller-Hermelink HK,Barth TF,Möller P,Cogliatti SB,Pfreundschuh M,Schmitz N,Trümper L,Höller S,Löffler M,Feller AC,Ger

更新日期：2009-11-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Hemoglobin Constant Spring (Hb CS), caused by a termination codon mutation (TAA-->CAA) in the a2 gene, is the most common non-deletional type of a thalassemia in Southeast Asia. This mutation can most easily be detected by loss of an MseI-restriction site (T/TAA) spanning the termination codon...

journal_title：Haematologica

authors： Viprakasit V,Tanphaichitr VS,Pung-Amritt P,Petrarat S,Suwantol L,Fisher C,Higgs DR

更新日期：2002-02-01 00:00:00

abstract：BACKGROUND:Many different techniques have been designed for the quantification of JAK2V617F allelic burden, sometimes producing discrepant results. DESIGN AND METHODS:JAK2V617F quantification techniques were compared among 16 centers using 11 assays based on quantitative polymerase chain reaction (with mutation-specif...

journal_title：Haematologica

authors： Lippert E,Girodon F,Hammond E,Jelinek J,Reading NS,Fehse B,Hanlon K,Hermans M,Richard C,Swierczek S,Ugo V,Carillo S,Harrivel V,Marzac C,Pietra D,Sobas M,Mounier M,Migeon M,Ellard S,Kröger N,Herrmann R,Prchal JT

更新日期：2009-01-01 00:00:00

abstract：:The role of reduced intensity allogeneic stem cell transplantation for the treatment of relapsed/refractory Hodgkin's lymphoma remains controversial. We retrospectively analyzed 191 patients who underwent reduced intensity allogeneic stem cell transplantation between 1998 and 2008 for relapsed or refractory Hodgkin's ...

journal_title：Haematologica

authors： Marcais A,Porcher R,Robin M,Mohty M,Michalet M,Blaise D,Tabrizi R,Clement L,Ceballos P,Daguindau E,Bilger K,Dhedin N,Lapusan S,Bay JO,Pautas C,Garban F,Ifrah N,Guillerm G,Contentin N,Bourhis JH,Yakoub Agha I,Ber

更新日期：2013-09-01 00:00:00