Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.

abstract：:Feto-maternal incompatibility for the human platelet antigen HPA-1a is an important cause of severe fetal thrombocytopenia. The incidence is 1 in 1000-2000 pregnancies, which is more common than other conditions for which screening is presently carried out. Antenatal diagnosis and management are now available, but onl...

journal_title：British journal of haematology

authors： Doughty HA,Murphy MF,Metcalfe P,Waters AH

更新日期：1995-06-01 00:00:00

abstract：:Five out of nine adults (55%) with lymphoblastic disease developed severe avascular necrosis of bone (AVN) when treated with a Berlin-Frankfurt-Munster (BFM) ALL protocol similar to the current joint MRC-ECOG ALL trial (UKALL XII). The principal purpose of these intensified regimens is to improve long-term disease-fre...

journal_title：British journal of haematology

authors： Chan-Lam D,Prentice AG,Copplestone JA,Weston M,Williams M,Hutton CW

更新日期：1994-01-01 00:00:00

abstract：:The level of venous thrombosis risk in women who experience spontaneous or induced pregnancy loss has previously been uncertain. However, recent data indicate that the risk of venous thrombosis in women undergoing pregnancy termination in the first trimester is increased two-fold compared to non-pregnant women but red...

journal_title：British journal of haematology

authors： Bagot CN,Pavord S,Hunt BJ,British Society of Haematology Obstetric Haematology Special Interest Group.

更新日期：2020-07-01 00:00:00

abstract：:Apoptosis is involved in many biological processes, especially during chemotherapy in cancer patients. Chemotherapy is also associated with an increased risk of thrombosis. The relationship between thrombogenicity and apoptosis was studied in various human tumour cell lines and non-tumour cell lines. Apoptosis was ind...

journal_title：British journal of haematology

authors： Wang J,Weiss I,Svoboda K,Kwaan HC

更新日期：2001-11-01 00:00:00

abstract：UNLABELLED:Transplant-related mortality (TRM) remains a major problem in older patients undergoing allogeneic haemopoietic stem cell transplants (HSCTs). We have therefore explored a less intensive conditioning in 33 patients with a median age of 52 years (range 43-60) transplanted from human leucocyte antigen (HLA)-id...

journal_title：British journal of haematology

authors： Raiola AM,Van Lint MT,Lamparelli T,Gualandi F,Mordini N,Berisso G,Bregante S,Frassoni F,Sessarego M,Fugazza G,Di Stefano F,Pitto A,Bacigalupo A

更新日期：2000-06-01 00:00:00

abstract：:This report describes a case of chronic myelomonocytic leukaemia (CMML) in whom a complete remission was achieved and sustained 15 months after treatment with 25-OH vitamin D3. No side-effects were observed. Although vitamin D1 has been used in the treatment of myelodysplastic syndromes, to our knowledge this is the f...

journal_title：British journal of haematology

authors： Mellibovsky L,Díez A,Aubia J,Nogues X,Pérez-Vila E,Serrano S,Recker RR

更新日期：1993-12-01 00:00:00

abstract：:Coagulation activity and whole-blood viscosity were measured in the steady state, and serially during painful crisis, in eight patients with sickle-cell anaemia. Platelet and coagulation activation occurred in the steady state and became more pronounced early in crisis. Whole-blood viscosity increased during crisis in...

journal_title：British journal of haematology

authors： Richardson SG,Matthews KB,Stuart J,Geddes AM,Wilcox RM

更新日期：1979-01-01 00:00:00

abstract：:A novel long-term cultured interleukin (IL)-3-dependent human myelodysplastic cell line, MDS92, was shown to contain several myeloid-lineage cells such as neutrophils, macrophages, eosinophils, and a small number of megakaryocyte-lineage cells. Therefore this cell line possesses at least bipotential characteristics of...

journal_title：British journal of haematology

authors： Tohyama K,Tohyama Y,Nakayama T,Ueda T,Nakamura T,Yoshida Y

更新日期：1995-12-01 00:00:00

abstract：:T-cell large granular lymphocyte leukaemia (T-LGL) is a clonal disorder of T cells associated with neutropenia and anaemia. The clinical consequences are recurrent infections and transfusion dependence. The optimum treatment for severely affected patients remains to be defined. Current therapies require long-term admi...

journal_title：British journal of haematology

authors： Sternberg A,Eagleton H,Pillai N,Leyden K,Turner S,Pearson D,Littlewood T,Hatton C

更新日期：2003-02-01 00:00:00

abstract：:Much of the variability in the sensitivity to warfarin in anticoagulated patients is associated with the c.-1639G > A polymorphism of the vitamin K-epoxide reductase (VKORC1) gene. However, its association with the acenocoumarol dose in patients under anticoagulant therapy has not been studied. The c.-1639G > A genoty...

journal_title：British journal of haematology

authors： Montes R,Ruiz de Gaona E,Martínez-González MA,Alberca I,Hermida J

更新日期：2006-04-01 00:00:00

abstract：:Immunoglobulin kappa (Igkappa) gene recombinations can be used - similarly to IgH rearrangements - as clonal markers in B-lineage leukaemias. Based on the extensive junctional diversity, these rearrangements represent valuable targets for the analysis of minimal residual disease (MRD). In order to provide a simple met...

journal_title：British journal of haematology

authors： Stolz F,Panzer S,Panzer-Grümayer ER

更新日期：1999-08-01 00:00:00

abstract：:We performed a retrospective analysis of outcome in 45 patients with multiple myeloma receiving unrelated donor stem cell transplants (UD-SCT) in the UK between 1993 and 2002; 17 received myeloablative conditioning regimens and 28 received reduced intensity conditioning (RIC) protocols. Forty patients received pretran...

journal_title：British journal of haematology

authors： Shaw BE,Peggs K,Bird JM,Cavenagh J,Hunter A,Alejandro Madrigal J,Russell NH,Sirohi B,Towlson K,Williams CD,Marks DI,Clinical Trials Committee of the British Society of Blood and Marrow Transplantation.

更新日期：2003-12-01 00:00:00

abstract：:The myelotoxicities of three antiretroviral agents, 3'-azido-3'-deoxythymidine (AZT), carbovir (CBV) and 2',3'-didehydro-2',3'-dideoxythymidine (d4T), were evaluated in vitro with normal human and murine haematopoietic progenitor cells. These studies demonstrated that continuous AZT exposure was more inhibitory to hum...

journal_title：British journal of haematology

authors： Du DL,Volpe DA,Grieshaber CK,Murphy MJ Jr

更新日期：1992-04-01 00:00:00

abstract：:The haematological and immunological characteristics of 34 healthy anti-HTLV-I antibody-positive individuals (HTLV-I carriers) in southwestern Japan were examined. No significant difference was noted between carriers and the controls in counts of RBC, WBC and the absolute number of lymphocytes. The serum IgG in the ca...

journal_title：British journal of haematology

authors： Yasuda K,Sei Y,Yokoyama MM,Tanaka K,Hara A

更新日期：1986-09-01 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：:Gemtuzumab ozogamicin (GO) monotherapy is reported to yield a 20-30% response rate in advanced acute myeloid leukaemia (AML). This study examined the efficacy and tolerability of GO combined with cytarabine (GOCYT) in children with refractory/relapsed CD33(+) AML. Seventeen children received GO 3 mg/m(2) on days 1, 4 ...

journal_title：British journal of haematology

authors： Brethon B,Yakouben K,Oudot C,Boutard P,Bruno B,Jérome C,Nelken B,de Lumley L,Bertrand Y,Dalle JH,Chevret S,Leblanc T,Baruchel A

更新日期：2008-11-01 00:00:00

abstract：:Two new variants of erythrocytic glucose-6-phosphate dehydrogenase have been found in one German patient and in another patient of Turkish origin. The enzymes were partially purified 165-fold and 111-fold respectively. Both revealed reduced activity, increased thermolability and a pH-optimum in the alkaline region (8....

journal_title：British journal of haematology

authors： Gahr M,Bornhalm D,Schröter W

更新日期：1976-07-01 00:00:00

abstract：:Heterozygous factor XI (FXI) deficiency is sometimes associated with a significant bleeding tendency. Fresh frozen plasma of FXI concentrates are the mainstay of treatment in patients with a clear bleeding history, especially prior to surgery. However, these treatments are not completely free of risk. Furthermore, thr...

journal_title：British journal of haematology

authors： Castaman G,Ruggeri M,Rodeghiero F

更新日期：1996-07-01 00:00:00

abstract：:Eight patients with aplastic anaemia associated with dyskeratosis congenita received allogeneic marrow grafts from either HLA-identical siblings (six patients) or HLA-matched unrelated donors (two patients). Patients who received marrow from HLA-identical siblings were conditioned with cyclophosphamide (140-200 mg/kg)...

journal_title：British journal of haematology

authors： Langston AA,Sanders JE,Deeg HJ,Crawford SW,Anasetti C,Sullivan KM,Flowers ME,Storb R

更新日期：1996-03-01 00:00:00

abstract：:We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous beta thalassaemic patients, regularly treated. We found significantly shorter stature a...

journal_title：British journal of haematology

authors： Ferrara M,Matarese SM,Francese M,Borrelli B,Coppola A,Coppola L,Esposito L

更新日期：2002-05-01 00:00:00

abstract：:The purpose of the present work were to identify the initial characteristics associated with long-term survival in chronic granulocytic leukaemia (CGL) and to analyse the accuracy of prognostic models in identifying long-term survivors. 813 Philadelphia (Ph) chromosome-positive, nonblastic CGL patients from six Americ...

journal_title：British journal of haematology

authors： Cervantes F,Robertson JE,Rozman C,Baccarani M,Tura S,Gómez GA,Braun TJ,Clarkson BD,Pereira A

更新日期：1994-06-01 00:00:00

abstract：:Marginal zone B-cell lymphoma (MZBCL) represents a distinct subtype of B-cell non-Hodgkin's lymphoma (NHL) which has been recently recognized and defined as a disease entity. Cytogenetically, these lymphomas reveal a high prevalence of trisomy 3, and recent data obtained by comparative genomic hybridization indicate t...

journal_title：British journal of haematology

authors： Dierlamm J,Pittaluga S,Stul M,Wlodarska I,Michaux L,Thomas J,Verhoef G,Verhest A,Depardieu C,Cassiman JJ,Hagemeijer A,De Wolf-Peeters C,Van den Berghe H

更新日期：1997-09-01 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：:Addition of the inflammatory cytokine interleukin (IL)-6 to the culture medium of human cord blood haematopoietic stem and progenitor cells (HSPCs) has been shown to lead to an altered stromal cell-derived factor-1alpha-dependent migratory phenotype. This study investigated whether this effect was attributed to a diff...

journal_title：British journal of haematology

authors： Kasenda B,Kassmer SH,Niggemann B,Schiermeier S,Hatzmann W,Zänker KS,Dittmar T

更新日期：2008-09-01 00:00:00

abstract：:In vitro culture of hairy cells (HC) (five patients) with alpha IFN (100 U/ml) significantly enhanced MHC and CD22 antigen expression and reduced CD25, sIg and FMC7 positivity, together with consistent but not significant reductions in CD9, 19 and HC2. A sixth patient, who was refractory to the effects of alpha IFN in...

journal_title：British journal of haematology

authors： Till KJ,Cawley JC

更新日期：1989-07-01 00:00:00

abstract：:Screening of the skeleton by plain radiography was compared to magnetic resonance imaging (MRI) of the lumbar spine in 41 patients with multiple myeloma. In the lumbar spine, myeloma lesions were detected in 15 patients with radiography and in 28 patients with MRI. Radiography of the lumbar spine was not positive in a...

journal_title：British journal of haematology

authors： Tertti R,Alanen A,Remes K

更新日期：1995-11-01 00:00:00

abstract：:Autologous transplantation has an established role in the treatment of lymphoproliferative disorders, but allogeneic transplantation remains controversial. In an attempt to reduce the high procedure-related mortality reported with allografting in lymphoma, we have used BEAM (BCNU, etoposide, cytarabine and melphalan),...

journal_title：British journal of haematology

authors： Cull GM,Haynes AP,Byrne JL,Carter GI,Miflin G,Rebello P,Hale G,Waldmann H,Russell NH

更新日期：2000-03-01 00:00:00

abstract：:S-Methylation by thiopurine methyltransferase (TPMT) is an important route of metabolism for the thiopurine drugs. About one in 300 individuals are homozygous for a TPMT mutation associated with very low enzyme activity and severe myelosuppression if treated with standard doses of drug. To validate the use of molecula...

journal_title：British journal of haematology

authors： Coulthard SA,Rabello C,Robson J,Howell C,Minto L,Middleton PG,Gandhi MK,Jackson G,McLelland J,O'Brien H,Smith S,Reid MM,Pearson AD,Hall AG

更新日期：2000-09-01 00:00:00

abstract：:Hydroxyurea (HU), an inhibitor of DNA synthesis, can also induce haemoglobinization in certain erythroid cell lines. In this study, we report that intracellular peroxides levels were increased in HU-treated murine erythroleukaemia (MEL) cells and that l-acetyl-N-cysteine (LNAC), a potent reducing reagent, had a signif...

journal_title：British journal of haematology

authors： Nagai T,Tarumoto T,Miyoshi T,Ohmine K,Muroi K,Komatsu N,Sassa S,Ozawa K

更新日期：2003-05-01 00:00:00

abstract：:Sickle cell disease (SCD) in Saudi patients from the Eastern Province is associated with the Arab-Indian (AI) HBB (β-globin gene) haplotype. The phenotype of AI SCD in children was described as benign and was attributed to their high fetal haemoglobin (HbF). We conducted a hospital-based study to assess the pattern of...

journal_title：British journal of haematology

authors： Alsultan A,Alabdulaali MK,Griffin PJ,Alsuliman AM,Ghabbour HA,Sebastiani P,Albuali WH,Al-Ali AK,Chui DH,Steinberg MH

更新日期：2014-02-01 00:00:00