Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.

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：:The t(4;14) translocation is found in approximately 10% of myeloma patients and results in the deregulation of at least two genes, MMSET and fibroblast growth factor receptor 3 (FGFR3), with the formation of a fusion product between MMSET and the immunoglobulin heavy chain (IgH) locus and overexpression of FGFR3. We h...

journal_title：British journal of haematology

authors： Sibley K,Fenton JA,Dring AM,Ashcroft AJ,Rawstron AC,Morgan GJ

更新日期：2002-08-01 00:00:00

abstract：:To identify a commonly deleted region of 13q14 in idiopathic myelofibrosis (IMF), we used fluorescence in situ hybridization analysis to test for deletion of the RB1 and BRCA2 genes, and the microsatellite loci D13S319 and D13S25, in a series of 25 patients. A further two patients with myelofibrosis secondary to polyc...

journal_title：British journal of haematology

authors： Sinclair EJ,Forrest EC,Reilly JT,Watmore AE,Potter AM

更新日期：2001-05-01 00:00:00

abstract：:Endogenous production of carbon monoxide (VCO), red cell survival and iron kinetics were studied in 15 subjects with Hodgkin's disease. The subjects were divided into two groups, namely: eight patients with anaemia (group A, haemoglobin (Hb) concentration less than 11.5 g/dl) and seven patients without anaemia (group ...

journal_title：British journal of haematology

authors： Cavallin-Ståhl E,Mercke C,Lundh B

更新日期：1976-02-01 00:00:00

abstract：:The arrangement of the T-cell receptor and immunoglobulin genes has been analysed in five cases of Lennert's lymphoma. All cases showed rearrangement of the gene coding for the beta chain of the T-cell receptor and a germline configuration of the immunoglobulin genes. This provides strong evidence that Lennert's lymph...

journal_title：British journal of haematology

authors： O'Connor NT,Feller AC,Wainscoat JS,Gatter KC,Pallesen G,Stein H,Lennert K,Mason DY

更新日期：1986-11-01 00:00:00

abstract：:In type 1 Gaucher disease a bleeding tendency occurs which is partly caused by thrombocytopenia due to massive splenomegaly. In addition, low levels of factors IX and XI have been described. The mechanism responsible for these clotting factor abnormalities is unknown. We performed a detailed study of parameters of coa...

journal_title：British journal of haematology

authors： Hollak CE,Levi M,Berends F,Aerts JM,van Oers MH

更新日期：1997-03-01 00:00:00

abstract：:Five paediatric cases of haemophagocytic lymphohistiocytosis (HLH) which showed proliferation of granular atypical lymphocytoid cells in bone marrow are reported. All cases were girls aged 8 months to 4 years who had marked hepatosplenomegaly. Marker analysis on peripheral blood mononuclear cells revealed an increase ...

journal_title：British journal of haematology

authors： Imashuku S,Hibi S,Morinaga S,Takagi K,Chen J,Mugishima H,Ishii T,Sako M,Arakawa H,Kato M

更新日期：1997-03-01 00:00:00

abstract：:We have characterized the molecular defect in two families with severe factor VII (FVII) deficiency. In family I, the proband was found to be homozygous for a novel 18 bp deletion in exon 8 (g.10896-10913del) resulting in the in-frame deletion of six amino acids in the serine protease domain. Molecular modelling sugge...

journal_title：British journal of haematology

authors： Gomez K,Laffan MA,Kemball-Cook G,Pasi J,Layton M,Singer JD,Tuddenham EG,McVey JH

更新日期：2004-07-01 00:00:00

abstract：:Haemophilia A is an attractive target for gene therapy. We designed a haemophilia A gene therapy strategy involving the genetic modification of haematopoietic stem cells to achieve tissue-specific expression of a factor VIII (FVIII) transgene in the megakaryocytic lineage. Platelets would then serve as vehicles to sto...

journal_title：British journal of haematology

authors： Rodriguez MH,Plantier JL,Enjolras N,Réa M,Leboeuf M,Uzan G,Négrier C

更新日期：2004-12-01 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：:We studied the lysis in vitro of group A red cells by IgG anti-A. IgG anti-A, which strongly lysed A red cells from adults, did not lyse A red cells from cord blood, if fresh cord serum from a child with blood group AB was used as a source of complement. In cases of haemolytic disease of the newborn due to A-O or B-O ...

journal_title：British journal of haematology

authors： Brouwers HA,Overbeeke MA,Huiskes E,Bos MJ,Ouwehand WH,Engelfriet CP

更新日期：1988-03-01 00:00:00

abstract：:The iron chelator deferasirox (DFX) prevents complications related to transfusional iron overload in several haematological disorders characterized by marrow failure. It is also able to induce haematological responses in a percentage of treated patients, particularly in those affected by myelodysplastic syndromes. The...

journal_title：British journal of haematology

authors： Tataranni T,Agriesti F,Mazzoccoli C,Ruggieri V,Scrima R,Laurenzana I,D'Auria F,Falzetti F,Di Ianni M,Musto P,Capitanio N,Piccoli C

更新日期：2015-07-01 00:00:00

abstract：:Adhesive interactions between haemopoietic progenitor cells and bone marrow sinusoidal endothelium are potentially important in the homing of these cells back to the extravascular compartment of the marrow to re-establish haemopoiesis following stem cell transplantation. A simple method for the isolation and culture o...

journal_title：British journal of haematology

authors： Masek LC,Sweetenham JW

更新日期：1994-12-01 00:00:00

abstract：:Cytokines and chemokines determine mobilisation of Langerhans cells and their dysregulation is implicated in the pathogenesis of Langerhans cell histiocytosis (LCH). Twenty point mutations of 12 different cytokine genes were studied in 41 Italian children, 15 with single-system (SS) and 26 with multi-system disease. T...

journal_title：British journal of haematology

authors： De Filippi P,Badulli C,Cuccia M,De Silvestri A,Dametto E,Pasi A,Garaventa A,del Prever AB,Todesco A,Trizzino A,Danesino C,Martinetti M,Aricò M

更新日期：2006-03-01 00:00:00

abstract：:Eradication of Helicobacter pylori infection has been associated with the correction of thrombocytopenia in patients with idiopathic thrombocytopenic purpura (ITP). We have analysed the response to eradication of H. pylori in a series of 56 adult patients with chronic ITP. Forty patients had H. pylori infection (71%) ...

journal_title：British journal of haematology

authors： Jarque I,Andreu R,Llopis I,De la Rubia J,Gomis F,Senent L,Jiménez C,Martín G,Martínez JA,Sanz GF,Ponce J,Sanz MA

更新日期：2001-12-01 00:00:00

abstract：:Protein S is expressed in a number of tissue types, one of the most physiologically relevant being the liver. However, transcriptional control of protein S gene expression is poorly understood. We have characterised a 638 bp area in the 5' flanking region of the human protein S gene, spanning all 10 previously reporte...

journal_title：British journal of haematology

authors： Hall AJ,Peake IR,Winship PR

更新日期：2006-11-01 00:00:00

abstract：:We identified two patients with a t(2;4)(p24;q12) and a t(4;12)(q2?3;p1?2), respectively, in association with BCR-ABL and FIP1L1-PDGFRA negative chronic eosinophilic leukaemia. Molecular analysis revealed a novel STRN-PDGFRA fusion for the t(2;4) and ETV6-PDGFRA for the t(4;12). The fusions were confirmed by specific ...

journal_title：British journal of haematology

authors： Curtis CE,Grand FH,Musto P,Clark A,Murphy J,Perla G,Minervini MM,Stewart J,Reiter A,Cross NC

更新日期：2007-07-01 00:00:00

abstract：:Thrombopoietin (TPO) is the primary regulator of platelet production and acts through binding its receptor, c-mpl, found on megakaryocyte progenitor cells, megakaryocytes and platelets. Circulating levels of TPO are regulated primarily by the clearance of TPO after it binds to c-mpl receptors on circulating platelets....

journal_title：British journal of haematology

authors： Li J,Xia Y,Kuter DJ

更新日期：1999-08-01 00:00:00

abstract：:As the cure rates for haematological malignancies have improved, the exploration of the balance between efficacy and side effects has become a major research target. The antifolate methotrexate is widely used in the treatment of acute lymphoblastic leukaemia, non-Hodgkin lymphoma, and osteosarcoma. Even when given ide...

journal_title：British journal of haematology

authors： Schmiegelow K

更新日期：2009-09-01 00:00:00

abstract：:Ibrutinib is associated with durable responses in patients with Waldenström macroglobulinaemia (WM). We hypothesized that response depth is predictive of progression-free survival (PFS) in WM patients treated with ibrutinib. Using landmark analyses, we evaluated response depth in two cohorts of WM patients treated wit...

journal_title：British journal of haematology

authors： Castillo JJ,Abeykoon JP,Gustine JN,Zanwar S,Mein K,Flynn CA,Demos MG,Guerrera ML,Kofides A,Liu X,Munshi M,Tsakmaklis N,King R,Yang G,Hunter ZR,Advani RH,Palomba ML,Ansell SM,Gertz MA,Kapoor P,Treon SP

更新日期：2020-11-18 00:00:00

abstract：:Isoelectric focusing (IEF) in the pH range 2.5-5.0 has been used to compare the immunoreactive (ir) erythropoietin (Epo) in paired samples of serum and urine from three patients, two with idiopathic aplastic anaemia and one with paroxysmal nocturnal haemoglobinuria and also from three anaemic rats. Serum samples only ...

journal_title：British journal of haematology

authors： Tam RC,Coleman SL,Tiplady RJ,Storring PL,Cotes PM

更新日期：1991-11-01 00:00:00

abstract：:This study investigated the relationship between duodenal mucosal mRNA levels of the transcription factor, NF-E2, H-ferritin (a putative NF-E2 regulated gene) and iron absorption in mice. CD1-strain mice with normal and altered iron metabolism (hypoxic, iron-deficient, iron-loaded) and animals with genetic defects of ...

journal_title：British journal of haematology

authors： Raja KB,Gerard B,McKie AT,Simpson RJ,Peters TJ,Grandchamp B,Beaumont C

更新日期：1995-10-01 00:00:00

abstract：:Follicular lymphoma (FL) is a heterogeneous disease; therefore, reliable prognostic tools are needed to plan treatment strategies. The FL International Prognostic Index (FLIPI) was developed before the rituximab era, while the PRIMA-PI was built on rituximab chemotherapy. Our objective was to evaluate these two progno...

journal_title：British journal of haematology

authors： Kimby E,Lockmer S,Holte H,Hagberg H,Wahlin BE,Brown P,Østenstad B

更新日期：2020-05-14 00:00:00

abstract：:We examined major histocompatibility complex (MHC) class II expression in B cells, peripheral blood monocytes, activated T cells, epidermal Langerhans cells, monocyte-derived dendritic cells, dermal microvascular endothelial cells (DMEC) and fibroblasts of twin brothers with MHC class II deficiency. Although residual ...

journal_title：British journal of haematology

authors： Wolf HM,Thon V,Gulle H,Lechleitner S,Eibl MM,Petzelbauer P

更新日期：2001-11-01 00:00:00

abstract：:Peripheral blood globin synthesis studies were done in 11 patients with delta beta-thalassaemia trait, Hb S-delta beta-thalassaemia or delta beta/betao-thalassaemia from two black and two Caucasian families. All patients had elevated Hb F and normal or decreased Hb A2 levels and 10 had family studies confirming the di...

journal_title：British journal of haematology

authors： Kinney TR,Friedman S,Cifuentes E,Kim HC,Schwartz E

更新日期：1978-01-01 00:00:00

abstract：:Guidelines on hereditary spherocytosis (HS) published in 2004 (Bolton-Maggs et al, 2004) are here replaced to reflect changes in current opinion on the surgical management, (particularly the indications for concomitant splenectomy with cholecystectomy in children with mild HS, and concomitant cholecystectomy with sple...

journal_title：British journal of haematology

authors： Bolton-Maggs PH,Langer JC,Iolascon A,Tittensor P,King MJ,General Haematology Task Force of the British Committee for Standards in Haematology.

更新日期：2012-01-01 00:00:00

abstract：:Patients with intermittent claudication have been reported to have disturbances in blood rheology and haemostasis. Whether these disturbances are a result of, or largely independent of, smoking history and arterial narrowing has not yet been established. The levels of whole blood and plasma viscosity, haematocrit, von...

journal_title：British journal of haematology

authors： Lee AJ,Fowkes FG,Rattray A,Rumley A,Lowe GD

更新日期：1996-01-01 00:00:00

abstract：:A 2-year-old girl is described with severe haemophilia A (factor VIII: C < 0.01 units/ml). Both of her parents were phenotypically normal. Cytogenetic analysis on the proband demonstrated an interstitial X chromosome deletion encompassing Xq26-q28. Molecular studies with several polymorphic markers close to and within...

journal_title：British journal of haematology

authors： Windsor S,Lyng A,Taylor SA,Ewenstein BM,Neufeld EJ,Lillicrap D

更新日期：1995-08-01 00:00:00

abstract：:Well-established histopathological prognostic factors are lacking in primary central nervous system (CNS) lymphomas (PCNSL). The present study investigated the presence and prognostic role of tumour necrosis (TN) and reactive perivascular T-cell infiltrate (RPVI), defined as a rim of small reactive T-lymphocytes occur...

journal_title：British journal of haematology

authors： Ponzoni M,Berger F,Chassagne-Clement C,Tinguely M,Jouvet A,Ferreri AJ,Dell'Oro S,Terreni MR,Doglioni C,Weis J,Cerati M,Milani M,Iuzzolino P,Motta T,Carbone A,Pedrinis E,Sanchez J,Blay JY,Reni M,Conconi A,Bertoni F

更新日期：2007-08-01 00:00:00

abstract：:Mutations in SOCS1 are frequent in primary mediastinal B-cell lymphoma and classical Hodgkin lymphoma. In the latter, SOCS1 mutations affect the length of the encoded protein (major mutations) and are associated with shorter patient survival. Two independent studies examined the prognostic impact of SOCS1 mutations in...

journal_title：British journal of haematology

authors： Mellert K,Martin M,Lennerz JK,Lüdeke M,Staiger AM,Kreuz M,Löffler M,Schmitz N,Trümper L,Feller AC,Hartmann S,Hansmann ML,Klapper W,Stein H,Rosenwald A,Ott G,Ziepert M,Möller P

更新日期：2019-12-01 00:00:00