Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia.

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：:Folate analogues were added to human bone marrow cells to determine their effect on deoxyuridine utilization in the deoxyuridine suppression test. Formyltetrahydrofolates fully corrected the impairment of dU utilization in pernicious anaemia marrows but tetrahydrofolate was relatively ineffective. All these analogues ...

journal_title：British journal of haematology

authors： Deacon R,Chanarin I,Perry J,Lumb M

更新日期：1980-12-01 00:00:00

abstract：:Allogeneic haematopoietic stem cell transplantation (HSCT) after a reduced-intensity conditioning (RIC) regimen with fludarabine, melphalan and alemtuzmab is an effective therapy for haematological malignancies. Alemtuzumab, a monoclonal antibody against CD52, a glycosylphosphatidylinositol-anchor-bound surface protei...

journal_title：British journal of haematology

authors： Woelfinger P,Epp K,Schaefer L,Kriege D,Theobald M,Bopp T,Wagner-Drouet EM

更新日期：2020-10-01 00:00:00

abstract：:Various levels of thrombin generation were induced by the infusion of a combination of factor Xa (F.Xa) and phosphatidylcholine/phosphatidylserine (PCPS) vesicles into normal dogs and non-human primates. In the dog, an immediate loss of von Willebrand factor antigen (vWF:Ag) with a progressive recovery to normal level...

journal_title：British journal of haematology

authors： Toh CH,Hoogendoorn H,Giles AR

更新日期：1993-12-01 00:00:00

abstract：:Fanconi anaemia (FA) is an autosomal recessive and X-linked disease characterized by severe genetic instability and increased incidence of cancer. One explanation for this instability may be the cellular hypersensitivity to oxidative stress leading to chromosomal breaks. This study explored the possible oxidative dama...

journal_title：British journal of haematology

authors： Uziel O,Reshef H,Ravid A,Fabian I,Halperin D,Ram R,Bakhanashvili M,Nordenberg J,Lahav M

更新日期：2008-07-01 00:00:00

abstract：:Mutations of the p53 tumour suppressor gene have frequently been observed in several types of solid tumours and are believed to be implicated in the development of these tumours. To determine the relevance of p53 mutations in haematologic neoplasms, we performed polymerase chain reaction-single strand conformation pol...

journal_title：British journal of haematology

authors： Mori N,Wada M,Yokota J,Terada M,Okada M,Teramura M,Masuda M,Hoshino S,Motoji T,Oshimi K

更新日期：1992-06-01 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：: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：:Karyotypic analysis was performed in a total of 69 patients with well-characterized idiopathic myelofibrosis. Karyotypic abnormalities were detected in 46% of cases examined during the chronic phase (29/63); with three abnormalities, del(13q), del(20q) and partial trisomy 1q, accounting for 75% of all abnormalities at...

journal_title：British journal of haematology

authors： Reilly JT,Wilson G,Barnett D,Watmore A,Potter A

更新日期：1994-11-01 00:00:00

abstract：:Platelet activating factor (PAF) derived from antigen-stimulated, IgE-sensitized rabbit basophils acts on platelets to induce aggregation and secretion of their content of granule-bound vasoactive amines. Despite this, PAF did not activate platelet factor 3. In contrast, collagen induced aggregation, secretion and PF3...

journal_title：British journal of haematology

authors： Henson PM,Landes RR

更新日期：1976-10-01 00:00:00

abstract：:Chronic lymphocytic leukaemia/small lymphocytic lymphoma (CLL) is one of the more common forms of B cell malignancy. Although the condition has a variable clinical course, the trend is towards eventual relapse and the disease is considered incurable. Whilst the majority of the circulating CD5-positive neoplastic B cel...

journal_title：British journal of haematology

authors： Ramsay AD,Rodriguez-Justo M

更新日期：2013-07-01 00:00:00

abstract：:To date, there is a lack of long-term safety and efficacy data for iron chelation therapy in transfusion-dependent patients with sickle cell disease (SCD). To evaluate the long-term safety and efficacy of deferasirox (a once-daily oral iron chelator), patients with SCD completing a 1-year, Phase II, randomized, defero...

journal_title：British journal of haematology

authors： Vichinsky E,Bernaudin F,Forni GL,Gardner R,Hassell K,Heeney MM,Inusa B,Kutlar A,Lane P,Mathias L,Porter J,Tebbi C,Wilson F,Griffel L,Deng W,Giannone V,Coates T

更新日期：2011-08-01 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：:Three male patients (two of whom were brothers) with Shwachman-Diamond (SDS) syndrome presented with acute myeloid leukaemia in adulthood. In all three cases there was trilineage myelodysplasia and the morphology was consistent with FAB subtype M6. SDS is an inherited bone marrow failure syndrome with a high propensit...

journal_title：British journal of haematology

authors： Dokal I,Rule S,Chen F,Potter M,Goldman J

更新日期：1997-10-01 00:00:00

abstract：:A retrospective study of 37 patients with haematological malignancy (21 acute myeloid leukaemia, 11 acute lymphoid leukaemia, two lymphoma, two hairy cell leukaemia, one Hodgkin's disease) and histologically documented mucormycosis was conducted to evaluate the clinical characteristics and ascertain the factors which ...

journal_title：British journal of haematology

authors： Pagano L,Ricci P,Tonso A,Nosari A,Cudillo L,Montillo M,Cenacchi A,Pacilli L,Fabbiano F,Del Favero A

更新日期：1997-11-01 00:00:00

abstract：:The erythrocyte chemokine receptor, a receptor for Plasmodium vivax, carries the antigens of the Duffy blood group system. Sequence analysis of reticulocyte RNA from individuals of known Duffy phenotype showed that the Fya antigen differs from the Fyb antigen as a result of a single nucleotide difference (A131 or G) e...

journal_title：British journal of haematology

authors： Mallinson G,Soo KS,Schall TJ,Pisacka M,Anstee DJ

更新日期：1995-08-01 00:00:00

abstract：:Twenty-seven stable subclones of seven independent cellular hybrids producing murine monoclonal antibodies to human von Willebrand factor (vWF) have been established. The specificity of the hybridoma antibodies for vWF has been substantiated by a variety of methods including binding to highly purified vWF, absence of ...

journal_title：British journal of haematology

authors： Meyer D,Zimmerman TS,Obert B,Edgington TS

更新日期：1984-08-01 00:00:00

abstract：:To explore the possible role of a residual or variant alphaIIbbeta3 integrin (alphaIIbbeta3) in thrombogenesis, we used a new ex vivo perfusion chamber model to examine blood from patients with different subtypes of Glanzmann's thrombasthenia (GT). Non-anticoagulated blood was perfused through capillaries coated with ...

journal_title：British journal of haematology

authors： Hainaud P,Brouland JP,André P,Simoneau G,Bal Dit Sollier C,Drouet L,Caen J,Bellucci S

更新日期：2002-12-01 00:00:00

abstract：:Liposomes prepared from rabbit brain extracts (RBE) and individual pure lipids (high phosphatidyl serine content, HIPS) were compared with frozen-thawed platelets (PLTS) in the dilute Russell Viper venom time (dRVVt). While all three preparations demonstrated sensitivity to lupus anticoagulant (LA) the highest detecti...

journal_title：British journal of haematology

authors： Stevenson KJ,Seddon JM

更新日期：1994-03-01 00:00:00

abstract：:Crude barium chloride eluates prepared from 12 unrelated patients with cross-reacting material positive (CRM+) haemophilia B were activated with celite eluate, the reaction products resolved after reduction by 13% SDS-PAGE, and factor IX antigenic material detected by probing with radiolabelled immunopurified rabbit a...

journal_title：British journal of haematology

authors： Liddell MB,Peake IR,Taylor SA,Lillicrap DP,Giddings JC,Bloom AL

更新日期：1989-08-01 00:00:00

abstract：:We developed a novel method for the chemical modification of cytokines with synthetic polymers to increase the therapeutic efficacy of the former in vivo. A pH-reversible amino-protective reagent, dimethylmaleic anhydride (DMMAn), was used for modification of interleukin-6 (IL-6) with polyethylene glycol (PEG). The no...

journal_title：British journal of haematology

authors： Tsunoda S,Ishikawa T,Watanabe M,Kamada H,Yamamoto Y,Tsutsumi Y,Hirano T,Mayumi T

更新日期：2001-01-01 00:00:00

abstract：:A highly sensitive Y-microsatellite amplification system was developed for the detection of post bone marrow transplantation (BMT) chimaerism. The system is able to detect the DNA equivalent of a single male cell in a background of 10(5) female cells. For clinical applications it has the distinct advantage that the po...

journal_title：British journal of haematology

authors： Lo YM,Noakes L,Roux E,Jeannet M,Chapuis B,Fleming KA,Wainscoat JS

更新日期：1995-03-01 00:00:00

abstract：:Shwachman-Diamond Syndrome (SDS) is a multi-system genetic disorder with bone marrow failure. SBDS, the gene associated with SDS, has been postulated to play a role in ribosome biogenesis and RNA processing, but its functions are still unknown. To study whether these pathways are interrupted when Sbds protein is lost,...

journal_title：British journal of haematology

authors： Rujkijyanont P,Adams SL,Beyene J,Dror Y

更新日期：2009-06-01 00:00:00

abstract：:Allele alphaLELY is a common low-expression allele of the erythroid spectrin SPTA1 gene. It results in the aggravated expression of hereditary elliptocytosis due to SPTA1 gene mutations occurring in trans. Allele alphaLELY contains, in particular, mutations in introns 45 and 46, both in polypyrimidine tracts, and caus...

journal_title：British journal of haematology

authors： Wilmotte R,Marechal J,Delaunay J

更新日期：1999-03-01 00:00:00

abstract：:Minimal (i.e. submicroscopic) residual disease (MRD) predicts outcome in childhood acute lymphoblastic leukaemia (ALL). To be used clinically, MRD assays must be reliable and accurate. Two well-established techniques, flow cytometry (FC) and polymerase chain reaction (PCR), can detect leukaemic cells with a sensitivit...

journal_title：British journal of haematology

authors： Kerst G,Kreyenberg H,Roth C,Well C,Dietz K,Coustan-Smith E,Campana D,Koscielniak E,Niemeyer C,Schlegel PG,Müller I,Niethammer D,Bader P

更新日期：2005-03-01 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：:Phytosterolaemia (sitosterolaemia) is a recessively inherited metabolic condition in which the absorption of both cholesterol and plant-derived cholesterol-like molecules at the gut is unselective and unrestricted. In haematology, Mediterranean stomatocytosis or Mediterranean macrothrombocytopenia is a poorly understo...

journal_title：British journal of haematology

authors： Rees DC,Iolascon A,Carella M,O'marcaigh AS,Kendra JR,Jowitt SN,Wales JK,Vora A,Makris M,Manning N,Nicolaou A,Fisher J,Mann A,Machin SJ,Clayton PT,Gasparini P,Stewart GW

更新日期：2005-07-01 00:00:00

abstract：:To determine the long-term efficacy of FLT3 inhibitors (FLT3i) in the salvage setting for relapsed and refractory (rel/ref) acute myeloid leukemia (AML) with FLT3 internal tandem duplication (AML FLT3-ITD), we conducted a retrospective study of 120 patients with rel/ref AML FLT3-ITD who received salvage therapy with e...

journal_title：British journal of haematology

authors： Takahashi K,Kantarjian H,Pemmaraju N,Andreeff M,Borthakur G,Faderl S,Garcia-Manero G,Pierce S,Luthra R,Cardenas-Turanzas M,Estrov Z,Ravandi F,Cortes J

更新日期：2013-06-01 00:00:00

abstract：:Bacteria in platelet components (PC) may result in transfusion-related sepsis (TRS). Pathogen inactivation of PC with amotosalen (A-PC) can abrogate the risk of TRS and hence facilitate storage to 7 d. A randomized, controlled, double-blinded trial to evaluate the efficacy and safety of A-PC stored for 6-7 d was condu...

journal_title：British journal of haematology

authors： Lozano M,Knutson F,Tardivel R,Cid J,Maymó RM,Löf H,Roddie H,Pelly J,Docherty A,Sherman C,Lin L,Propst M,Corash L,Prowse C

更新日期：2011-05-01 00:00:00

abstract：:We report the cytogenetic findings on 31 cases of splenic lymphoma with villous lymphocytes (SLVL). TPA stimulated cells from peripheral blood (28 cases), spleen (two cases) and lymph node (one case) with SLVL have been analysed. A clonal chromosome abnormality was found in 27/31 patients (87%); this was identified as...

journal_title：British journal of haematology

authors： Oscier DG,Matutes E,Gardiner A,Glide S,Mould S,Brito-Babapulle V,Ellis J,Catovsky D

更新日期：1993-11-01 00:00:00