Dysfibrinogenaemia characterized by abnormal fibrin monomer polymerization and normal fibrinopeptide A release.

abstract：:Employing an immunoblotting procedure, we have identified and characterized an autoantigen carried on glycoprotein (GP) IIb in a patient with chronic idiopathic thrombocytopenic purpura (ITP), and have compared the location of the autoantigen with that of the platelet-specific alloantigen Baka. Immunoblots, using the ...

journal_title：British journal of haematology

authors： Tomiyama Y,Kurata Y,Shibata Y,Honda S,Furubayashi T,Mizutani H,Tsubakio T,Yonezawa T,Tarui S

更新日期：1989-01-01 00:00:00

abstract：:Two single-nucleotide substitutions in PKLR constituted the molecular basis underlying pyruvate kinase (PK) deficiency in a patient with severe haemolytic anaemia. One novel mutation, IVS5+1G>A, abolished the intron 5 donor splice site. The other mutation, c.1436G>A, altered the intron 10 donor splice site consensus s...

journal_title：British journal of haematology

authors： Wijk R,van Wesel AC,Thomas AA,Rijksen G,van Solinge WW

更新日期：2004-04-01 00:00:00

abstract：:We investigated the effects of Il-12 on functional properties of CD3+ CD8+ granular lymphocytes (GL) of of patients with lymphoproliferative disease of granular lymphocytes (LDGL). To this aim, in 10 cases with clonal CD3+ GL proliferation (nine cases with an associated TCR alpha/beta receptor and one case with a TCR ...

journal_title：British journal of haematology

authors： Zambello R,Trentin L,Cassatella MA,Raimondi R,Cerutti A,Enthammer C,Facco M,Agostini C,Semenzato G

更新日期：1996-02-01 00:00:00

abstract：:Aspergillus fumigatus is an opportunistic filamentous fungus that is currently the most frequent cause of invasive fungal disease in immunosuppressed individuals. Recent advances in our understanding of the pathogenesis of invasive aspergillosis have highlighted the multifactorial nature of A. fumigatus virulence and ...

journal_title：British journal of haematology

authors： Ben-Ami R,Lewis RE,Kontoyiannis DP

更新日期：2010-08-01 00:00:00

abstract：:Bone loss in multiple myeloma (MM) is caused by an uncoupling of bone formation to resorption trigged by malignant plasma cells. Increasing evidence indicates that the bone remodelling compartment (BRC) canopy, which normally covers the remodelling sites, is important for coupled bone remodelling. Loss of this canopy ...

journal_title：British journal of haematology

authors： Hinge M,Delaisse JM,Plesner T,Clasen-Linde E,Salomo M,Andersen TL

更新日期：2015-11-01 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：: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：:In the last few years, mutations that cause disease through increased efficiency of mRNA translation have been discovered. Hereditary hyperferritinaemia-cataract syndrome (HHCS) arises from various point mutations or deletions within the iron-responsive element (IRE) in the 5'-UTR of the L-ferritin mRNA. Each unique m...

journal_title：British journal of haematology

authors： Cazzola M,Foglieni B,Bergamaschi G,Levi S,Lazzarino M,Arosio P

更新日期：2002-03-01 00:00:00

abstract：:A DNA-based method was developed to genotype donors for the human platelet antigens HPA-1a and -1b. Sequence-specific primers (SSP) were used in the polymerase chain reaction (PCR) which allowed the HPA-1a/1a, -1b/1b and -1a/1b genotypes to be determined by PCR alone, no second analytical stage was required. 10 donors...

journal_title：British journal of haematology

authors： Metcalfe P,Waters AH

更新日期：1993-09-01 00:00:00

abstract：:In a 2.5-month-old infant with beta-thalassaemia major, DNA analysis of the gamma-beta region revealed homozygosity for two large deletions removing the entire psi beta and beta regions including their 5' promoter regions but leaving the delta gene intact. The downstream deletion was predicted to be 7.6 kb in length e...

journal_title：British journal of haematology

authors： Oner C,Oner R,Gürgey A,Altay C

更新日期：1995-02-01 00:00:00

abstract：:Endothelial cells (EC) were isolated from the umbilical vein of a newborn girl with type I 'platelet low' von Willebrand disease (I vWD) and endothelial localization and release and the ability of subendothelial von Willebrand factor (vWF) to support platelet adhesion were compared with those of normal EC. vWF was det...

journal_title：British journal of haematology

authors： Federici AB,de Groot PG,Moia M,Ijsseldijk MJ,Sixma JJ,Mannucci PM

更新日期：1993-01-01 00:00:00

abstract：:The expression of EBV proteins and immunological properties were studied in the first stable cell line (SM) established from a patient presenting with persistent polyclonal B-cell lymphocytosis (PPBL). SM cells which represent a small population of EBV-positive atypical cells found in the peripheral blood of the patie...

journal_title：British journal of haematology

authors： Larcher C,Fend F,Mitterer M,Prang N,Schwarzmann F,Huemer HP

更新日期：1995-07-01 00:00:00

abstract：:Thirty-two patients with meningeal leukaemia who achieved meningeal remission with intrathecal methotrexate (MTX) plus dexamethasone (DMT) were entered in a randomized study of two maintenance treatments: (a) I6 patients received intermittent intrathecal doses of MTX plus DMT, and (b) I6 patients received intermittent...

journal_title：British journal of haematology

authors： Muriel FS,Schere D,Barengols A,Eppinger-Helft M,Braier JL,Pavlovsky S,Macchi GH,Guman L

更新日期：1976-09-01 00:00:00

abstract：:Bone marrow blast cells of 174 child and 188 adult patients with AML were examined and characterized in terms of their FAB type, immunological phenotype (102 children, 123 adults) and karyotype (69 children, 95 adults). The incidence of FAB variants of AML proved similar in children and adults. In patients under 15 an...

journal_title：British journal of haematology

authors： Frenkel MA,Tupitsyn NN,Protasova AK,Kadagidze ZG,Konstantinova LN,Fleischman EW

更新日期：1994-08-01 00:00:00

abstract：:Hodgkin-Reed Sternberg (H-RS) cells harbour clonal immunoglobulin gene (Ig) rearrangements in almost all cases of classical Hodgkin's disease but lack Ig gene expression. In the H-RS cell line L1236, a somatic mutation of the Ig heavy-chain gene promoter octamer motif has been described as a putative reason for absenc...

journal_title：British journal of haematology

authors： Re D,Staratschek-Jox A,Holtick U,Diehl V,Wolf J

更新日期：2001-11-01 00:00:00

abstract：:Leucocyte interferon production in vitro and circulating interferon levels were studied in healthy subjects and in 80 patients with acute or chronic leukaemia. Circulating interferon was not found in either group. Interferon synthesis in response to a virus was normal in patients with acute leukaemia and appeared to b...

journal_title：British journal of haematology

authors： Chisholm M,Cartwright T

更新日期：1978-09-01 00:00:00

abstract：:In this population-based survey covering two geographically distinct UK regions, we evaluated the number of myeloma patients aged < or =65 years who have not undergone transplantation. The combined data from both of these regions showed that 57% of age-eligible patients were not transplanted. While early death and com...

journal_title：British journal of haematology

authors： Morris TC,Velangi M,Jackson G,Marks DI,Ranaghan L,Northern Ireland Regional Haematology Group.,Northern Regional Haematologists Group.,Clinical Trials Committee of The British Scoiety for Blood and Marrow Transplantation.

更新日期：2005-02-01 00:00:00

abstract：:Patients belonging to four families with 'atypical elliptocytosis' have been investigated. Clinical, haematological, erythrokinetic and enzymatic characteristics as well as the effect of splenectomy are discussed. These studies appear to define the fundamental features of a particular disorder or a variety of heredita...

journal_title：British journal of haematology

authors： Torlontano G,Fioritoni G,Salvati AM

更新日期：1979-11-01 00:00:00

abstract：:To investigate the role of retinoblastoma susceptibility (RB) gene inactivation in leukaemogenesis, we evaluated 36 bone marrow specimens of acute leukaemia for RB protein expression by immunoprecipitation and Western blot analysis. 15 patients had no detectable RB protein at initial screening. However, nine of them w...

journal_title：British journal of haematology

authors： Tang JL,Yeh SH,Chen PJ,Lin MT,Tien HF,Chen YC

更新日期：1992-11-01 00:00:00

abstract：:Homing of transplanted bone marrow cells (BMC) to the host bone marrow (BM) is the first step of engraftment towards durable multilineage haematopoietic reconstitution. We used an in vivo assay to track PKH-labelled cells in the BM of mice after transplantation, using fluorescence microscopy through an optical window ...

journal_title：British journal of haematology

authors： Askenasy N,Farkas DL

更新日期：2003-02-01 00:00:00

abstract：:Using comparative genomic hybridization (CGH), aberrations in DNA copy number were studied before and after transformation of follicular lymphoma to diffuse large B-cell lymphoma in six patients (15 lymph node biopsies in total). The most common and also the most discrete and intense amplification occurring in four ou...

journal_title：British journal of haematology

authors： Goff LK,Neat MJ,Crawley CR,Jones L,Jones E,Lister TA,Gupta RK

更新日期：2000-11-01 00:00:00

abstract：:The bone marrow (BM) microenvironment supports leukaemia cell survival and proliferation. The roles played by adhesive receptor interactions in the survival of T-lineage acute lymphoblastic leukaemia (T-ALL) cells on BM stromal cells are not well understood. Recently, we have developed an assay that partially recapitu...

journal_title：British journal of haematology

authors： Winter SS,Sweatman JJ,Lawrence MB,Rhoades TH,Hart AL,Larson RS

更新日期：2001-12-01 00:00:00

abstract：:This report concerns congenitally Na(+)-K(+) leaky red cells of the 'hereditary stomatocytosis' class. Three new isolated cases and one new pedigree are described, and one previously reported case is expanded. In all cases, Western blotting of red cell membranes revealed a deficiency in the 32 kDa membrane protein, st...

journal_title：British journal of haematology

authors： Fricke B,Jarvis HG,Reid CD,Aguilar-Martinez P,Robert A,Quittet P,Chetty M,Pizzey A,Cynober T,Lande WF,Mentzer WC,Düring M,Winter S,Delaunay J,Stewart GW

更新日期：2004-06-01 00:00:00

abstract：:Neutrophil hypersegmentation (NH) is an important haematological feature of cobalamin or folate deficiency. As iron deficiency and folate deficiency often occur in the same target groups it is important to establish whether iron deficiency alone is a cause of NH. We report a case-control study which addresses this iss...

journal_title：British journal of haematology

authors： Westerman DA,Evans D,Metz J

更新日期：1999-12-01 00:00:00

abstract：:Platelets have recently been shown to trigger intrinsic coagulation by two alternative pathways, protect active clotting factors from inactivation by plasma inhibitors and catalyse intrinsic coagulation reactions on the platelet surface to form fibrin. To determine whether these platelet coagulant activities (PCA) mig...

journal_title：British journal of haematology

authors： Walsh PN,Rogers PH,Marder VJ,Gagnatelli G,Escovitz ES,Sherry S

更新日期：1976-03-01 00:00:00

abstract：:Down syndrome (DS) children have a 10-20-fold increased risk of developing ALL or AML compared to non-DS children. An increased disomic homozygosity of the polymorphic DNA markers in the pericentromeric region of chromosome 21q (21q11) has repeatedly been found in DS patients with ANLL-M7 and DS-specific transient abn...

journal_title：British journal of haematology

authors： Cavani S,Perfumo C,Argusti A,Pierluigi M,Perroni L,Schmiegelow K,Petersen MB,Cotter FE,Strigini P,Dagna-Bricarelli F,Nizetić D

更新日期：1998-10-01 00:00:00

abstract：:To extend our knowledge of the kinetics of fetal thrombopoietin (TPO), we studied TPO levels in cord blood plasma and amniotic fluid collected from 15 fetuses considered to be at risk of fetomaternal alloimmune thrombocytopenia and also from 10 healthy controls at caesarean delivery. In the plasma of all 25 fetuses an...

journal_title：British journal of haematology

authors： Sainio S,Javela K,Kekomäki R,Teramo K

更新日期：2000-05-01 00:00:00

abstract：:To determine whether human red cells contain a proteolytic system capable of rapidly degrading unstable proteins, the fate of pulse-labelled puromycyl polypeptides was investigated. In erythroid bone marrow cells these unstable polypeptides were degraded to TCA-soluble fragments with a mean half-life of 4 . 5 min. How...

journal_title：British journal of haematology

authors： Vissers MC,Winterbourn CC,Carrell RW

更新日期：1983-03-01 00:00:00

abstract：:The outcomes of adult patients transplanted for Fanconi anaemia (FA) have not been well described. We retrospectively analysed 199 adult patients with FA transplanted between 1991 and 2014. Patients were a median of 16 years of age when diagnosed with FA, and underwent transplantation at a median age of 23 years. Time...

journal_title：British journal of haematology

authors： Bierings M,Bonfim C,Peffault De Latour R,Aljurf M,Mehta PA,Knol C,Boulad F,Tbakhi A,Esquirol A,McQuaker G,Sucak GA,Othman TB,Halkes CJM,Carpenter B,Niederwieser D,Zecca M,Kröger N,Michallet M,Risitano AM,Ehninger G

更新日期：2018-01-01 00:00:00

abstract：:Whole exome sequencing and copy number aberration (CNA) analysis were performed on cells taken from peripheral blood (PB) and lymph nodes (LN) of patients with chronic lymphocytic leukaemia (CLL). Of 64 non-silent somatic mutations, 54 (84·4%) were clonal in both compartments, 3 (4·7%) were PB-specific and 7 (10·9%) w...

journal_title：British journal of haematology

authors： Del Giudice I,Marinelli M,Wang J,Bonina S,Messina M,Chiaretti S,Ilari C,Cafforio L,Raponi S,Mauro FR,Di Maio V,De Propris MS,Nanni M,Ciardullo C,Rossi D,Gaidano G,Guarini A,Rabadan R,Foà R

更新日期：2016-02-01 00:00:00