Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits.

abstract：:Childhood acute myeloid leukaemia (AML) is uncommon. Children with Fanconi anaemia (FA), however, have a very high risk of developing AML. FA is a rare inherited disease caused by mutations in at least 12 genes, of which Fanconi anaemia group G gene (FANCG) is one of the commonest. To address to what extent FANCG vari...

journal_title：British journal of haematology

authors： Meyer S,Barber LM,White DJ,Will AM,Birch JM,Kohler JA,Ersfeld K,Blom E,Joenje H,Eden TO,Malcolm Taylor G

更新日期：2006-05-01 00:00:00

abstract：:The activities of glucose-6-phosphate dehydrogenase (D-glucose-6-phosphate: NADP oxidoreductase, G6PD), 6-phosphogluconate dehydrogenase (6-phospho-D-gluconate: NADP oxidoreductase, 6PGD), hexokinase (ATP: D-hexose 6-phosphotransferase, Hx), lactate dehydrogenase (D-lactate: NAD oxidoreductase, LDH). glutamate oxaloac...

journal_title：British journal of haematology

authors： Brok-Simoni F,Ashkenazi YE,Holtzman F,Ramot B

更新日期：1975-02-01 00:00:00

abstract：:Karyotypic studies of bone marrow were conducted in 79 previously untreated patients with multiple myeloma who received a standard programme of chemotherapy. An abnormal karyotype was observed in 46% of patients, virtually all showing multiple abnormalities consistent with a long period of preclinical clonal evolution...

journal_title：British journal of haematology

authors： Seong C,Delasalle K,Hayes K,Weber D,Dimopoulos M,Swantkowski J,Huh Y,Glassman A,Champlin R,Alexanian R

更新日期：1998-04-01 00:00:00

abstract：:The development of neutralising antibodies to factor VIII (FVIII) is a major complication of haemophilia A (HA) therapy. We aimed to construct an individual risk profile for the development of inhibitors in HA and started by screening for the causative mutation in our HA patient population. A total of 109 patients and...

journal_title：British journal of haematology

authors： Boekhorst J,Verbruggen B,Lavergne JM,Costa JM,Schoormans SC,Brons PP,van Kraaij MG,Nováková IR,van Heerde WL

更新日期：2005-10-01 00:00:00

abstract：:Persistent lymphocytosis is usually associated with a malignant lymphoproliferative disease (MLPD). We report six female patients presenting a chronic, moderate lymphocytosis of 2-16 years duration with atypical binucleated lymphocytes on peripheral blood smears. Further investigation showed a polyclonal increase in s...

journal_title：British journal of haematology

authors： Troussard X,Valensi F,Debert C,Maynadie M,Schillinger F,Bonnet P,Macintyre EA,Flandrin G

更新日期：1994-10-01 00:00:00

abstract：:The standard of care for patients with acute promyelocytic leukaemia (APL) relapsing after front-line treatment with arsenic trioxide (ATO)-based regimens remains to be defined. A total of 67 patients who relapsed after receiving ATO-based up-front therapy and were also salvaged using an ATO-based regimen were evaluat...

journal_title：British journal of haematology

authors： Fouzia NA,Sharma V,Ganesan S,Palani HK,Balasundaram N,David S,Kulkarni UP,Korula A,Devasia AJ,Nair SC,Janet NB,Abraham A,Mani T,Lakshmanan J,Balasubramanian P,George B,Mathews V

更新日期：2021-01-01 00:00:00

abstract：:The role of serum macrophage inflammatory protein-1 alpha (MIP-1alpha) in bone disease and survival was evaluated in 85 newly diagnosed multiple myeloma (MM) patients. MIP-1alpha was elevated in MM patients and correlated with the extent of bone disease, bone resorption markers and levels of soluble receptor activator...

journal_title：British journal of haematology

authors： Terpos E,Politou M,Szydlo R,Goldman JM,Apperley JF,Rahemtulla A

更新日期：2003-10-01 00:00:00

abstract：:The in vitro and in vivo activity of a deoxycytidine analogue, troxacitabine, alone or in combination with imatinib mesylate (IM), was evaluated against human chronic myeloid leukaemia (CML) cell lines both sensitive (KBM5 and KBM7) and resistant (KBM5-R and KBM7-R) to IM. These cell lines differ in their sensitivity ...

journal_title：British journal of haematology

authors： Orsolic N,Giles FJ,Gourdeau H,Golemovic M,Beran M,Cortes J,Freireich EJ,Kantarjian H,Verstovsek S

更新日期：2004-03-01 00:00:00

abstract：:Dickkopf-1 (DKK1), expressed by myeloma cells, suppresses osteoblast function and plays a key role in bone disease in multiple myeloma. BHQ880, a human neutralizing IgG1 anti-DKK1 monoclonal antibody, is being investigated for its impact on multiple myeloma-related bone disease and as an agent with potential anti-myel...

journal_title：British journal of haematology

authors： Iyer SP,Beck JT,Stewart AK,Shah J,Kelly KR,Isaacs R,Bilic S,Sen S,Munshi NC

更新日期：2014-11-01 00:00:00

abstract：:We hypothesized that Wilms tumour 1 gene (WT1) expression levels in acute myeloid leukaemia (AML) patients might have predictive value and reveal molecular relapse kinetics. WT1 level was determined at diagnosis, during therapy and post-therapy follow-up in 89 patients who reached first complete remission (CR1) (952 s...

journal_title：British journal of haematology

authors： Ommen HB,Nyvold CG,Braendstrup K,Andersen BL,Ommen IB,Hasle H,Hokland P,Ostergaard M

更新日期：2008-06-01 00:00:00

abstract：:The specific sodium pump antagonist ouabain was used to study the effect of sodium pump inhibition on granulopoietic colony formation by normal human bone marrow cells cultured in soft agar for 7 d. Suppression of colony formation was dose-dependent and occurred at a low and reproducible concentration. The use of an e...

journal_title：British journal of haematology

authors： Steed AJ,Boardman KM,Delamore IW

更新日期：1982-07-01 00:00:00

abstract：:Well-established histopathological prognostic factors are lacking in primary central nervous system (CNS) lymphomas (PCNSL). The present study investigated the presence and prognostic role of tumour necrosis (TN) and reactive perivascular T-cell infiltrate (RPVI), defined as a rim of small reactive T-lymphocytes occur...

journal_title：British journal of haematology

authors： Ponzoni M,Berger F,Chassagne-Clement C,Tinguely M,Jouvet A,Ferreri AJ,Dell'Oro S,Terreni MR,Doglioni C,Weis J,Cerati M,Milani M,Iuzzolino P,Motta T,Carbone A,Pedrinis E,Sanchez J,Blay JY,Reni M,Conconi A,Bertoni F

更新日期：2007-08-01 00:00:00

abstract：:Platelet function was evaluated in eight patients with chronic granulocytic leukaemia (CGL), seven Ph1 positive and one Ph1 negative. Seven of the eight patients' platelets had an absence of the second wave of adrenaline induced aggregation on at least one occasion, while five had impaired collagen aggregation. The pl...

journal_title：British journal of haematology

authors： Gerrard JM,Stoddard SF,Shapiro RS,Coccia PF,Ramsay NK,Nesbit ME,Rao GH,Krivit W,White JG

更新日期：1978-12-01 00:00:00

abstract：:Previous studies have shown that interleukin 2 (IL2) production by peripheral blood mononuclear cells (PBMC) is severely impaired post allogeneic bone marrow transplantation, whereas production of interferon-gamma (IFN-gamma) is at most marginally depressed. To investigate the mechanisms behind this apparently differe...

journal_title：British journal of haematology

authors： Cooley MA,McLachlan K,Atkinson K

更新日期：1989-11-01 00:00:00

abstract：:This study investigated the relationship between duodenal mucosal mRNA levels of the transcription factor, NF-E2, H-ferritin (a putative NF-E2 regulated gene) and iron absorption in mice. CD1-strain mice with normal and altered iron metabolism (hypoxic, iron-deficient, iron-loaded) and animals with genetic defects of ...

journal_title：British journal of haematology

authors： Raja KB,Gerard B,McKie AT,Simpson RJ,Peters TJ,Grandchamp B,Beaumont C

更新日期：1995-10-01 00:00:00

abstract：:We report the analysis of prognostic factors in a cohort of 660 patients entered in the first Medical Research Council trial in chronic lymphocytic leukaemia (CLL) between 1978 and 1984. The majority (94%) of patients were aged 50 or over and the number of men (M) was almost twice that of women (F) with an M:F ratio o...

journal_title：British journal of haematology

authors： Catovsky D,Fooks J,Richards S

更新日期：1989-06-01 00:00:00

abstract：:We report on quantitative analyses of C5b-9 binding to target red blood cells (RBC) lysed through the action of drug (nomifensine)-dependent antibodies (ddab) and anti-RBC antibodies (warm plus cold agglutinins). Immunoradiometric assays showed that, at any given degree of haemolysis, more C5b-9 was bound to cells sen...

journal_title：British journal of haematology

authors： Salama A,Mueller-Eckhardt C,Boschek B,Bhakdi S

更新日期：1987-02-01 00:00:00

abstract：:Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by remodelling of the bone marrow, including progressive myelofibrosis and exaggerated angiogenesis. Advanced PMF frequently shows a full-blown fibre meshwork, which avoids aspiration of cells, and the expression profile of genes related to str...

journal_title：British journal of haematology

authors： Bock O,Muth M,Theophile K,Winter M,Hussein K,Büsche G,Kröger N,Kreipe H

更新日期：2009-09-01 00:00:00

abstract：:In studies on human platelets, nitroprusside (NP) alone at 1-10 micromol/l increased platelet cyclic AMP (cAMP) by 40-70%, whereas increases in cyclic GMP (cGMP) were much larger in percentage though not in concentration terms. Collagen enhanced these increases in cAMP up to fourfold, without affecting cGMP. This effe...

journal_title：British journal of haematology

authors： Jang EK,Azzam JE,Dickinson NT,Davidson MM,Haslam RJ

更新日期：2002-06-01 00:00:00

abstract：:Advances in multiple myeloma support the notion that the associated bone disease, characterized by increased osteoclastogenesis and suppressed osteoblastogenesis, is both a consequence and necessity of tumour progression. Osteoblastogenesis is suppressed by secreted inhibitors and dysregulation of cell-surface 'coupli...

journal_title：British journal of haematology

authors： Yaccoby S

更新日期：2010-05-01 00:00:00

abstract：:Antibodies that inhibit von Willebrand Factor (VWF)-cleaving protease activity occur in patients with acute thrombotic thrombocytopenic purpura (TTP) and often persist in the chronic phase. A deficiency of this protease is likely to be responsible for the generation of ultrahigh VWF multimers and influence the formati...

journal_title：British journal of haematology

authors： Sahud MA,Claster S,Liu L,Ero M,Harris K,Furlan M

更新日期：2002-03-01 00:00:00

abstract：:A murine monoclonal IgM erythrocyte antibody appeared to have anti-P (anti-globoside) specificity. The antibody was a relatively weak cold agglutinin, but a strong haemolysin and its reactivity with red cells was markedly enhanced by enzyme treatment. This antibody was used to study the cell and tissue distribution of...

journal_title：British journal of haematology

authors： von dem Borne AE,Bos MJ,Joustra-Maas N,Tromp JF,van't Veer MB,van Wijngaarden-du Bois R,Tetteroo PA

更新日期：1986-05-01 00:00:00

abstract：:Patients with Down syndrome have been found to have characteristic in vivo and in vitro methotrexate toxicity. The in vitro methotrexate toxicity characteristic of Down syndrome can be diminished by the in vivo administration of supplemental high doses of folic acid. A possible explanation for the increased sensitivit...

journal_title：British journal of haematology

authors： Peeters MA,Rethore MO,Lejeune J

更新日期：1995-03-01 00:00:00

abstract：:Glanzmann's thrombasthenia (GT) results from a qualitative or quantitative defect of GPIIb-IIIa complexes (integrin alphaIIbbeta3). the fibrinogen receptor on platelets. This integrin plays a critical role in platelet aggregation. In this report we describe the molecular abnormalities of a patient with clinical and la...

journal_title：British journal of haematology

authors： Ruan J,Peyruchaud O,Alberio L,Valles G,Clemetson K,Bourre F,Nurden AT

更新日期：1998-09-01 00:00:00

abstract：:The records of 637 patients with lymphoproliferative disorders and 346 patients with myeloproliferative disorders were retrospectively analysed for the presence of additional autoimmune derangements. The frequency of autoimmune perturbations in lymphoproliferative diseases (51 cases; 8.0%) was significantly higher tha...

journal_title：British journal of haematology

authors： Dührsen U,Augener W,Zwingers T,Brittinger G

更新日期：1987-10-01 00:00:00

abstract：:Ex vivo expansion of primitive human haematopoietic stem cells (HSC) is clinically relevant for stem cell transplantation and gene therapy. Here, we demonstrate the selective expansion of CD34+CD38- cells from purified CD34+ cells upon stimulation with Flt3-ligand, stem cell factor and thrombopoietin. Over a 100-fold ...

journal_title：British journal of haematology

authors： Ng YY,Bloem AC,van Kessel B,Lokhorst H,Logtenberg T,Staal FJ

更新日期：2002-04-01 00:00:00

abstract：:This study looked for clonal diversity in patients with a myeloproliferative neoplasm associated with more than one acquired genetic lesion. A tyrosine kinase mutation and a cytogenetic lesion were present in the same clone in six of seven patients. By contrast, the genetic lesions were present in separate clones in a...

journal_title：British journal of haematology

authors： Beer PA,Jones AV,Bench AJ,Goday-Fernandez A,Boyd EM,Vaghela KJ,Erber WN,Odeh B,Wright C,McMullin MF,Cullis J,Huntly BJ,Harrison CN,Cross NC,Green AR

更新日期：2009-03-01 00:00:00

abstract：:Although traditional anticoagulant regimens are highly effective and safe in most patients with venous thromboembolism (VTE), the aggressive natural history of VTE and the high risk of serious bleeding in cancer patients can complicate the management of VTE. In addition, because few clinical trials have focused on the...

journal_title：British journal of haematology

authors： Lee AY

更新日期：2005-02-01 00:00:00

abstract：:Three identical alpha + thalassemia genes, one of which always carried the Hb J Tongariki mutation, have been observed in Vanuatuans. Despite the fact that at least two of them have arisen by different types of crossover event, the expression of all three haplotypes is identical. ...

journal_title：British journal of haematology

authors： Bowden DK,Pressley L,Higgs DR,Clegg JB,Weatherall DJ

更新日期：1982-06-01 00:00:00

abstract：:The interaction of rare Hb variants with beta(0)-thalassaemia results in a quasihomozygous state where the erythrocytes contain the variant as the only major adult Hb component. Such a situation is a unique model that enables functional studies even in the case of a neutral variant that could not be isolated from Hb A...

journal_title：British journal of haematology

authors： Vassilopoulos G,Papassotiriou I,Voskaridou E,Stamoulakatou A,Premetis E,Kister J,Marden M,Griffon N,Poyart C,Wajcman H

更新日期：1995-11-01 00:00:00