Identification of a novel mutation in a non-Jewish factor XI deficient kindred.

abstract：:The AF-4 gene on human chromosome 4q21 is involved in reciprocal translocations to the ALL-1 gene on chromosome 11q23, which are associated with acute lymphoblastic leukaemias. A set of recombinant phage carrying genomic fragments for the coding region and flanking sequences of the AF-4 gene were isolated. Phage inser...

journal_title：British journal of haematology

authors： Nilson I,Reichel M,Ennas MG,Greim R,Knörr C,Siegler G,Greil J,Fey GH,Marschalek R

更新日期：1997-07-01 00:00:00

abstract：:The sensitivity of populations of human granulocyte precursors to factors with colony stimulating activity (CSA) was assessed in agar culture in vitro. The mean threshold of stimulation was estimated by analysis of dose-response curves of clone growth against concentration of CSA. This method of assessment has the adv...

journal_title：British journal of haematology

authors： Francis GE,Berney JJ,Chipping PM,Hoffbrand AV

更新日期：1979-04-01 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：:The highly conserved 350-bp major regulatory element HS-40 (or alphaMRE) upstream of the human alpha-globin gene cluster is involved in the regulation of alpha-globin gene expression. The study of alphaMRE differences between human populations and the evolution of alphaMRE sequences in mammals may lead to a better und...

journal_title：British journal of haematology

authors： Harteveld CL,Muglia M,Passarino G,Kielman MF,Bernini LF

更新日期：2002-12-01 00:00:00

abstract：:Laboratory (LTLS) and clinical (CTLS) tumour lysis syndrome (TLS) are frequent complications in newly diagnosed children with advanced mature B cell non-Hodgkin lymphoma (B-NHL). Rasburicase, compared to allopurinol, results in more rapid reduction of uric acid in paediatric patients at risk for TLS. However, the safe...

journal_title：British journal of haematology

authors： Galardy PJ,Hochberg J,Perkins SL,Harrison L,Goldman S,Cairo MS

更新日期：2013-11-01 00:00:00

abstract：:We report the results of consecutive tests in nine BCR-ABL-positive ALL patients by one-step and two-step (nested primer) reverse transcriptase-polymerase chain reaction (RT-PCR). Six patients could be tested in complete haematological remission (CHR). One patient remained one-step positive; four patients became one-s...

journal_title：British journal of haematology

authors： Mitterbauer G,Födinger M,Scherrer R,Knöbl P,Jäger U,Laczika K,Schwarzinger I,Gaiger A,Geissler K,Greinix H

更新日期：1995-04-01 00:00:00

abstract：:A 14-month-old child who had a haemolytic episode when he was 5 years old, and with psychomotor retardation, was found to have decreased red cell hexokinase activity. The mutant enzyme was characterized by an increased affinity for glucose associated with an increased inhibition constant for glucose-1,6-diphosphate. A...

journal_title：British journal of haematology

authors： Magnani M,Stocchi V,Canestrari F,Dachà M,Balestri P,Farnetani MA,Giorgi D,Fois A,Fornaini G

更新日期：1985-09-01 00:00:00

abstract：:Thirty-four patients with refractory multiple myeloma were treated with 4-d continuous infusions of vincristine and adriamycin in combination with 4-d pulsed high-dose dexamethasone (VAD). Of 31 evaluable patients, 16 entered a complete remission (50%) and three a partial remission (10%). No difference in response rat...

journal_title：British journal of haematology

authors： Lokhorst HM,Meuwissen OJ,Bast EJ,Dekker AW

更新日期：1989-01-01 00:00:00

abstract：:T(3;14)(q27;q32) is frequently detected in B-cell non-Hodgkin's lymphomas, especially the diffuse large cell type and the follicular type. The BCL6 gene encoding a putative transcriptional factor which resides on 3q27 rearranges to the immunoglobulin heavy chain (IgH) gene on 14q32 in this chromosomal translocation. T...

journal_title：British journal of haematology

authors： Kawamata N,Nakamura Y,Miki T,Sato E,Isobe Y,Furusawa S,Hirosawa S,Oshimi K

更新日期：1998-03-01 00:00:00

abstract：:The International Extranodal Lymphoma Study Group (IELSG) promoted this study to determine the inter-observer agreement in the application of the Groupe d' Etude des Lymphomes de l' Adulte (GELA) histological scoring system for evaluating residual disease in post-treatment gastric biopsies of patients with gastric Muc...

journal_title：British journal of haematology

authors： Copie-Bergman C,Wotherspoon AC,Capella C,Motta T,Pedrinis E,Pileri SA,Bertoni F,Conconi A,Zucca E,Ponzoni M,Ferreri AJ

更新日期：2013-01-01 00:00:00

abstract：:The uptake of iron by bone marrow erythroblasts and its intracellular distribution have been studied in 23 patients with primary sideroblastic anaemia (SA), five patients with secondary SA and one patient with only non-ringed sideroblasts. EM of erythroblasts from 18 cases showed both mitochondrial iron deposits and c...

journal_title：British journal of haematology

authors： May A,de Souza P,Barnes K,Kaaba S,Jacobs A

更新日期：1982-12-01 00:00:00

abstract：:Excessive bleeding represents a major complication of surgical interventions and its control is especially relevant in patients with Congenital Bleeding Disorders (CBD). In factor VII (FVII) deficiency, scanty data on surgery is available to guide treatment strategies. The STER (Seven Treatment Evaluation Registry) is...

journal_title：British journal of haematology

authors： Mariani G,Dolce A,Batorova A,Auerswald G,Schved JF,Siragusa S,Napolitano M,Knudsen JB,Ingerslev J,STER and the International Factor VII Deficiency Study Groups.

更新日期：2011-02-01 00:00:00

abstract：:We describe the characterization of a novel 7.9 kb deletion that eliminated one of the duplicated alpha-globin genes, causing an alpha+-thalassaemia phenotype in two independent carriers of Suriname-Indian origin. The molecular characterization of the deletion breakpoint fragment revealed neither involvement of Alu re...

journal_title：British journal of haematology

authors： Harteveld CL,van Delft P,Wijermans PW,Kappers-Klunne MC,Weegenaar J,Losekoot M,Giordano PC

更新日期：2003-01-01 00:00:00

abstract：:To clarify the mechanisms underlying thrombocytosis secondary to infections, we longitudinally studied serum levels of thrombopoietin (TPO) and interleukin (IL)-6 in 15 infants and young children with prominent thrombocytosis (platelets >700 x 10(9)/l) following acute infections and 116 age-matched controls using an e...

journal_title：British journal of haematology

authors： Ishiguro A,Suzuki Y,Mito M,Shimbo T,Matsubara K,Kato T,Miyazaki H

更新日期：2002-03-01 00:00:00

abstract：:Patients with multiple myeloma (MM) undergoing high dose therapy and autologous stem cell transplantation (SCT) remain at risk for disease progression. Induction of the expression of highly immunogenic cancer testis antigens (CTA) in malignant plasma cells in MM patients may trigger a protective immune response follow...

journal_title：British journal of haematology

authors： Toor AA,Payne KK,Chung HM,Sabo RT,Hazlett AF,Kmieciak M,Sanford K,Williams DC,Clark WB,Roberts CH,McCarty JM,Manjili MH

更新日期：2012-09-01 00:00:00

abstract：:This study describes the use of a simple charcoal product (DOAC-RemoveTM ) to allow haemostasis assays on patients taking direct oral anticoagulants (DOAC). In the proposed algorithm, patients taking DOAC are screened using the dilute thrombin time (dTT) and anti-Xa assay. If either are positive then DOAC-Remove is ut...

journal_title：British journal of haematology

authors： Cox-Morton S,MacDonald S,Thomas W

更新日期：2019-11-01 00:00:00

abstract：:A number of disorders cause iron overload: some are of genetic origin, such as hereditary haemochromatosis, while others are acquired, for instance due to repeated transfusions. This article reviews the treatment options for hereditary haemochromatosis, with special attention to the use of erythrocytapheresis. In gene...

journal_title：British journal of haematology

authors： Rombout-Sestrienkova E,van Kraaij MG,Koek GH

更新日期：2016-12-01 00:00:00

abstract：:A prospective study was undertaken to determine the effectiveness of an empirical antibiotic therapy regimen in 34 neutropenic patients undergoing bone marrow transplantation or remission-induction chemotherapy for leukaemia. Throughout the study period a total of 90 pyrexial episodes were monitored in which organisms...

journal_title：British journal of haematology

authors： Barnes RA,Rogers TR

更新日期：1987-05-01 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：:Disease progression occurs in over 1% of monoclonal gammopathy of undetermined significance, monoclonal B-cell lymphocytosis and early stage chronic lymphocytic leukaemia patients every year therefore regular monitoring is indicated. We assessed the efficacy of an outreach service to replace clinic monitoring using lo...

journal_title：British journal of haematology

authors： Rawstron AC,Jones RA,Ferguson C,Hughes G,Selby P,Reid C,Dalal S,Howard M,Smith G,Hillmen P,Owen RG,Jack AS

更新日期：2007-12-01 00:00:00

abstract：:A novel BCR-ABL transcript was detected by multiplex RT-PCR in a patient with Philadelphia chromosome (Ph) positive chronic myelogenous leukaemia (CML) in accelerated phase. Sequencing of the aberrant transcript revealed an in-frame e2a2 fusion that included a 9 basepairs insertion. Cytogenetic analysis showed t(9;22)...

journal_title：British journal of haematology

authors： Leibundgut EO,Jotterand M,Rigamonti V,Parlier V,Mühlematter D,Tobler A,Solenthaler M

更新日期：1999-09-01 00:00:00

abstract：:Microcirculatory disorders are a common finding in sepsis. We have analysed the influence of two factors released in sepsis, endotoxin and tumour necrosis factor (TNF), on rheological properties of blood cells. The deformability of mixed cell suspensions, isolated erythrocytes, mononuclear cells, or polymorphonuclear ...

journal_title：British journal of haematology

authors： Betticher DC,Keller H,Maly FE,Reinhart WH

更新日期：1993-01-01 00:00:00

abstract：:We report a patient who was treated with recombinant (r)-hirudin for heparin-induced thrombocytopenia and developed a flush reaction twice upon re-exposure to 25 mg of subcutaneous r-hirudin. Antihirudin IgG antibodies developed. The patient received 50 mg of PEG-hirudin subcutaneously over 2 days. No side-effects occ...

journal_title：British journal of haematology

authors： Harenberg J,Hoffmann U,Huhle G,Song XH,Wang LC

更新日期：2000-03-01 00:00:00

abstract：:Amiodarone has been implicated as a cause of thrombocytopenia but the responsible mechanism is unknown. We performed studies in three patients to characterize the pathogenesis of this complication. No amiodarone-dependent, platelet-reactive antibodies were identified using conventional serological techniques. However,...

journal_title：British journal of haematology

authors： Sahud MA,Caulfield M,Clarke N,Koch R,Bougie D,Aster R

更新日期：2013-10-01 00:00:00

abstract：:In whole blood from splenectomized subjects (n = 20), red cells showed a significant increase of mean surface area (MSA), mean cell volume (MCV), MSA/MCV-ratio and osmotic resistance, with the mean cell haemoglobin concentration (MCHC) being decreased. Studies on red cell populations of different cell age revealed tha...

journal_title：British journal of haematology

authors： de Haan LD,Werre JM,Ruben AM,Huls HA,de Gier J,Staal GE

更新日期：1988-05-01 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 describe two British families with similar, dominantly-inherited, temperature-related variants of hereditary stomatocytosis, consistent with the original description of 'cryohydrocytosis'. The cells show a 5-6-fold increase in passive permeability at 37 degrees C with abnormal intracellular Na and K levels at 15-20...

journal_title：British journal of haematology

authors： Coles SE,Chetty MC,Ho MM,Nicolaou A,Kearney JW,Wright SD,Stewart GW

更新日期：1999-06-01 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

abstract：:Any influence of G-CSF on eosinophils is mostly negative, although reports which have studied this relationship are few with varied results. The aim of this study was to investigate the influence of G-CSF administration to healthy subjects on eosinophils in peripheral blood. Blood eosinophil counts, serum levels of eo...

journal_title：British journal of haematology

authors： Karawajczyk M,Höglund M,Ericsson J,Venge P

更新日期：1997-02-01 00:00:00

abstract：:Due to the development of neurological toxicity and resistance to methotrexate (MTX), other antifolates have been evaluated for its potential replacement in the treatment of childhood acute lymphoblastic leukaemia (ALL). Aminopterin (AMT) has been suggested to provide clinical advantages over MTX and other antifolates...

journal_title：British journal of haematology

authors： Kang MH,Harutyunyan N,Hall CP,Papa RA,Lock RB

更新日期：2009-05-01 00:00:00