A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations.

abstract：:Our paper describes two Sardinian families with alpha-beta thalassaemia interaction. In the first (family S), the propositus, whose haemoglobin pattern at birth consisted of about 25% Hb Bart's and 75% Hb F, successively developed a clinical and haematological picture typical of Cooleys anaemia. Haematological and glo...

journal_title：British journal of haematology

authors： Furbetta M,Galanello R,Ximenes A,Angius A,Melis MA,Serra P,Cao A

更新日期：1979-02-01 00:00:00

abstract：:Transient leukaemia (TL) in neonates with Down syndrome (DS) is characterized by the transient appearance of blast cells in the peripheral blood that resolves spontaneously. Some TL patients die at an early age due to organ failure. Seventy DS patients with TL were studied retrospectively to identify clinical and labo...

journal_title：British journal of haematology

authors： Muramatsu H,Kato K,Watanabe N,Matsumoto K,Nakamura T,Horikoshi Y,Mimaya J,Suzuki C,Hayakawa M,Kojima S

更新日期：2008-08-01 00:00:00

abstract：:The past decade has seen an explosion of interest in the epigenetics of cancer, with an increasing understanding that this form of genomic modification plays a critical role in pathogenesis. The malignant phenotype results from a step-wise increase of both genetic abnormalities and epigenetic modifications, leading to...

journal_title：British journal of haematology

authors： Boultwood J,Wainscoat JS

更新日期：2007-07-01 00:00:00

abstract：:Risk factors for acute graft-versus-host disease (GvHD) remain controversial. We performed uni- and multivariate statistical analyses on a series of 37 patients receiving a non-depleted allogeneic bone marrow transplant from an HLA-identical sibling donor for a haematological malignancy, in order to identify risk fact...

journal_title：British journal of haematology

authors： Bagot M,Mary JY,Heslan M,Kuentz M,Cordonnier C,Vernant JP,Dubertret L,Levy JP

更新日期：1988-12-01 00:00:00

abstract：:This study was performed to assess the methods which gave maximal recovery of purified CD34/45+ cells from a cord blood specimen and optimal growth of progenitors cultured from the purified cells. Cord blood samples were separated using Percoll gradients (either one (1.080) or two successive (1.080 and 1.068) gradient...

journal_title：British journal of haematology

authors： Charbord P,Newton I,Voillat L,Schaal JP,Herve P

更新日期：1996-09-01 00:00:00

abstract：:Osteonecrosis is a disabling complication in children and young adults with acute lymphoblastic leukaemia. It can affect any or multiple joints but the hip and knee are most frequently involved and a cause of long-term disability. The problem is almost exclusively that of older children and young adults of whom over 7...

journal_title：British journal of haematology

authors： Vora A

更新日期：2011-12-01 00:00:00

abstract：:The role of factor XI (FXI) in blood coagulation has been clarified in recent years by descriptions of FXI-deficient patients who are prone to excessive bleeding after haemostatic challenge. We have studied a large kindred of an Italian FXI-deficient patient with a previously undescribed mutation. The propositus, a 68...

journal_title：British journal of haematology

authors： Alhaq A,Mitchell M,Sethi M,Rahman S,Flynn G,Boulton P,Caeno G,Smith M,Savidge G

更新日期：1999-01-01 00:00:00

abstract：:In two unrelated Spanish males with glucose-6-phosphate dehydrogenase (G6PD) deficiency and haemolytic anaemia, and two different novel point mutations in the G6PD gene, have been identified. A C to T transition at nucleotide 406 resulting in a (136) Arg to Cys substitution and a C to G transition at nucleotide 1155 r...

journal_title：British journal of haematology

authors： Zarza R,Pujades A,Rovira A,Saavedra R,Fernandez J,Aymerich M,Vives Corrons JL

更新日期：1997-09-01 00:00:00

abstract：:An optimal antitumoral immune response requires the participation of both CD8 and CD4 T lymphocytes, which are activated by peptide antigen presentation via human leucocyte antigen (HLA) class I and class II molecules respectively. Loss of HLA molecules has been observed in different malignancies, and provides a mecha...

journal_title：British journal of haematology

authors： Drénou B,Le Friec G,Bernard M,Pangault C,Grosset JM,Lamy T,Fauchet R,Amiot L

更新日期：2002-11-01 00:00:00

abstract：:Previously thought to be best described as a plasma cell disorder, Waldenström macroglobulinaemia (WM) is now understood to be a distinct clinicobiological entity. WM shares B-cell origin and certain other features with both chronic lymphocytic leukaemia (CLL) and multiple myeloma (MM). WM and CLL arise from B-cells a...

journal_title：British journal of haematology

authors： McMaster ML,Caporaso N

更新日期：2007-12-01 00:00:00

abstract：:Peripheral blood stem cell autografts for the treatment of chronic myeloid leukaemia (CML) are currently under evaluation. A patient with CML received intensive chemotherapy followed by granulocyte colony-stimulating factor prior to the collection of peripheral blood derived stem cells. He developed unusually severe, ...

journal_title：British journal of haematology

authors： Clark RE,Lee ES

更新日期：1995-06-01 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：:Marked changes in the concentration and proliferative state of circulating granulocytic progenitor cells (colony forming units in culture; CFUc) were observed in female patients following surgical trauma. Within one day of an abdominal hysterectomy there was an abrupt fall in the number of blood CFUc to between 10% an...

journal_title：British journal of haematology

authors： Philip MA,Standen G,Fletcher J

更新日期：1980-02-01 00:00:00

abstract：:The prognostic significance of SOCS3 protein expression was determined in de novo follicular lymphomas (FL) with t(14;18) and bcl-2 overexpression. Presentation lymph nodes from 82 FL patients for whom clinical information was available were immunohistochemically segregated into SOCS3-positive (n = 42) or -negative (n...

journal_title：British journal of haematology

authors： Krishnadasan R,Bifulco C,Kim J,Rodov S,Zieske AW,Vanasse GJ

更新日期：2006-10-01 00:00:00

abstract：:We report the characterization of three variant antithrombins with reduced heparin binding as the primary abnormality. Two of these variants, antithrombin Southport (Leu 99 to Val, 2759 C to G) and antithrombin Vienna (Gln 118 to Pro, 5349 A to C) were novel, whereas the third, Pro 41 to Leu, has been previously descr...

journal_title：British journal of haematology

authors： Chowdhury V,Mille B,Olds RJ,Lane DA,Watton J,Barrowcliffe TW,Pabinger I,Woodcock BE,Thein SL

更新日期：1995-03-01 00:00:00

abstract：:Clinical trials with individual cytokines and extensive in vitro studies have provided the basis for the in vivo use of these molecules in combination. Animal models, with haemopoietic growth factors as well as preliminary studies in humans--as shown by our studies with the sequential use of IL-3 and GM-CSF in patient...

journal_title：British journal of haematology

authors： Kanz L,Brugger W,Bross K,Mertelsmann R

更新日期：1991-10-01 00:00:00

abstract：:An elderly patient with no abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT). Preincubation of plasma with aPTT reagent caused shortening of the abnormal clotting time. Plasma prekallikrein (PK) activity and antigen were <5 u/dL. Molecular analysis showed a homozygous Ar...

journal_title：British journal of haematology

authors： Wynne Jones D,Russell G,Allford SL,Burdon K,Hawkins GA,Bowden DW,Minaee S,Mumford AD

更新日期：2004-10-01 00:00:00

abstract：:Factor VIII (FVIII) inhibitors appear in 3-20% of haemophilia A patients after injection of FVIII concentrates. However, autoantibodies to FVIII are also reported in non-haemophiliacs. In these patients FVIII inhibitor disappears spontaneously or diminishes in response to immunosuppressive therapy. However, a few pati...

journal_title：British journal of haematology

authors： Sunagawa T,Uezu Y,Kadena K,Tokuyama K,Kinjo F,Saito A

更新日期：1999-03-01 00:00:00

abstract：:We investigated the relationship between the complement lysis sensitivity test and two-colour flow cytometric analysis using monoclonal antibodies to decay accelerating factor (DAF) and CD59/membrane attack complex inhibitory factor (MACIF) in patients with paroxysmal nocturnal haemoglobinuria (PNH) and other haematol...

journal_title：British journal of haematology

authors： Shichishima T,Terasawa T,Saitoh Y,Hashimoto C,Ohto H,Maruyama Y

更新日期：1993-10-01 00:00:00

abstract：:Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes ...

journal_title：British journal of haematology

authors： Vlachos A,Ball S,Dahl N,Alter BP,Sheth S,Ramenghi U,Meerpohl J,Karlsson S,Liu JM,Leblanc T,Paley C,Kang EM,Leder EJ,Atsidaftos E,Shimamura A,Bessler M,Glader B,Lipton JM,Participants of Sixth Annual Daniella Maria Art

更新日期：2008-09-01 00:00:00

abstract：:We performed a retrospective study analysing the effect of sorafenib, an oral fms-Like Tyrosine Kinase 3 (FLT3)/multikinase inhibitor, as post-transplant maintenance in adult patients with FLT3-internal tandem duplication (ITD) acute myeloid leukaemia (AML). We identified consecutive patients with FLT3-ITD AML diagnos...

journal_title：British journal of haematology

authors： Brunner AM,Li S,Fathi AT,Wadleigh M,Ho VT,Collier K,Connolly C,Ballen KK,Cutler CS,Dey BR,El-Jawahri A,Nikiforow S,McAfee SL,Koreth J,Deangelo DJ,Alyea EP,Antin JH,Spitzer TR,Stone RM,Soiffer RJ,Chen YB

更新日期：2016-11-01 00:00:00

abstract：:Virchow's triad describes three factors that contribute to the development of venous thrombosis: hypercoagulability, stasis and endothelial injury. Yet, extensive review of the historical literature casts doubt on the existence of a triad described by Virchow in the form it is currently quoted throughout contemporary ...

journal_title：British journal of haematology

authors： Bagot CN,Arya R

更新日期：2008-10-01 00:00:00

abstract：:An unusual variant of congenital dyserythropoietic anaemia is described presenting as mild haemolytic anaemia with multinucleated erythroblasts in the marrow of the proband. The outcome of her non-consanguineous pregnancy was a third trimester, in utero, fetal demise. The hydropic fetus had dyserythropoiesis with circ...

journal_title：British journal of haematology

authors： Roberts DJ,Nadel A,Lage J,Rutherford CJ

更新日期：1993-07-01 00:00:00

abstract：:Red blood cells frozen by the low-glycerol fast-freezing technique were thawed, deglycerolized and resuspended in various media. The use of ACD-saline for resuspension markedly reduced in vitro haemolysis such that the red cells could be transfused up to 5 d after thawing. At this time the cells contained satisfactory...

journal_title：British journal of haematology

authors： Amer KA,Pepper DS,Prowse CV

更新日期：1980-04-01 00:00:00

abstract：:Adult T cell leukaemia/lymphoma (ATL) is a human T cell leukaemia virus type-I (HTLV-I)-infected T cell malignancy with poor prognosis. We herein developed a novel therapeutic vaccine designed to augment an HTLV-I Tax-specific cytotoxic T lymphocyte (CTL) response that has been implicated in anti-ATL effects, and cond...

journal_title：British journal of haematology

authors： Suehiro Y,Hasegawa A,Iino T,Sasada A,Watanabe N,Matsuoka M,Takamori A,Tanosaki R,Utsunomiya A,Choi I,Fukuda T,Miura O,Takaishi S,Teshima T,Akashi K,Kannagi M,Uike N,Okamura J

更新日期：2015-05-01 00:00:00

abstract：:Novel therapies with increased efficacy and decreased toxicity are desperately needed for the treatment of acute myeloid leukaemia (AML). The anti CD33 immunoconjugate, gemtuzumab ozogamicin (GO), was withdrawn with concerns over induction mortality and lack of efficacy. However a number of recent trials suggest that,...

journal_title：British journal of haematology

authors： Gasiorowski RE,Clark GJ,Bradstock K,Hart DN

更新日期：2014-02-01 00:00:00

abstract：:Two patients are described who had evidence of both multiple myeloma and chronic neutrophilic leukaemia at or near the time of presentation. Descriptions of five similar patients were found in the literature supporting an association between the two disorders. This association is further evidence of a link between mye...

journal_title：British journal of haematology

authors： Lewis MJ,Oelbaum MH,Coleman M,Allen S

更新日期：1986-05-01 00:00:00

abstract：:It is widely recognized that thrombosis is the major event in the evolution of stable vascular disease to unstable ischaemic syndromes including myocardial infarction and stroke. The purpose of this case-control study was to establish clinical and laboratory data on the possible relationship between specific component...

journal_title：British journal of haematology

authors： Freeburn JC,Wallace JM,Strain JJ,Sinnamon DG,Craig BM,Johnson D,Gilmore WS

更新日期：1998-07-01 00:00:00

abstract：:Polymerase chain reaction protocols were designed specifically to amplify regions of the alpha globin complex that contain the nine common polymorphic haplotyping sites. These reactions provided a quicker and more sensitive approach to determining alpha globin haplotypes than Southern blotting methods. ...

journal_title：British journal of haematology

authors： Miles KL,Norwich JT,Martinson JJ,Clegg JB

更新日期：2001-06-01 00:00:00

abstract：:Purpura fulminans (PF) is a cutaneous manifestation of a dramatic and deadly syndrome of systemic disseminated intravascular coagulation (DIC). It is characterized by microvascular thrombosis in the dermis followed by perivascular haemorrhage. Since two other related syndromes involve the protein C (PC) system, we und...

journal_title：British journal of haematology

authors： Madden RM,Gill JC,Marlar RA

更新日期：1990-05-01 00:00:00