Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.

abstract：:Identification of the molecular basis of the beta-thalassaemias and sickle cell disease (SCD) has made it clear that patients with the same beta-globin genotypes can have very variable patterns of clinical expression. Extensive biochemical and pathophysiological studies over the last 50 years have derived two major mo...

journal_title：British journal of haematology

authors： Thein SL

更新日期：2008-05-01 00:00:00

abstract：:Globin synthesis was studied in four Negro families including 10 members with Hb A-HPFH and four with Hb S-HPFH. The beta/alpha specific activity ratios in 10 of these HPFH heterozygotes were similar to those of the control group. In two patients with Hb A-HPFH, the beta/alpha ratio was slightly decreased in one (0.84...

journal_title：British journal of haematology

authors： Friedman S,Schwartz E,Ahern E,Ahern V

更新日期：1976-03-01 00:00:00

abstract：:Immunotherapies have emerged as highly promising approaches to treat cancer patients. Allogeneic haematopoietic cell transplantation (HCT) is the most validated tumour immunotherapy available to date but its clinical efficacy is limited by toxicities, such as graft-versus-host disease (GVHD) and treatment resistance l...

journal_title：British journal of haematology

authors： Paczesny S

更新日期：2020-02-10 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：:Myeloid-derived suppressor cells (MDSCs) are a heterogeneous population of immature myeloid cells at different stages of maturation that play a role in cancer tolerance and function as an immune-suppressive cell subpopulation. They utilize different mechanisms to block both innate and adaptive arms of anti-tumour immu...

journal_title：British journal of haematology

authors： Tadmor T,Attias D,Polliack A

更新日期：2011-06-01 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：:Conflicting evidence exists on the epidemiology of type 2 diabetes mellitus (T2DM) among patients with sickle cell disease (SCD). This study measured the prevalence, incidence and clinical outcomes associated with T2DM in a large US population of commercially-insured adults aged ≥20 years with SCD between 2009 and 201...

journal_title：British journal of haematology

authors： Zhou J,Han J,Nutescu EA,Galanter WL,Walton SM,Gordeuk VR,Saraf SL,Calip GS

更新日期：2019-04-01 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：:Genetic variation in innate immunity may alter host-pathogen defence mechanisms and promote aberrant immune responses and non-Hodgkin lymphoma (NHL). To test this hypothesis, we investigated polymorphisms in innate immune genes in a pooled analysis of two population-based case-control studies of NHL from the San Franc...

journal_title：British journal of haematology

authors： Forrest MS,Skibola CF,Lightfoot TJ,Bracci PM,Willett EV,Smith MT,Holly EA,Roman E

更新日期：2006-07-01 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：:Positive selected haematopoietic stem cells are increasingly used for allogeneic transplantation with the CD34 antigen employed in most separation techniques. However, the recently described pentaspan molecule CD133 appears to be a marker of more primitive haematopoietic progenitors. Here we report our experience with...

journal_title：British journal of haematology

authors： Lang P,Bader P,Schumm M,Feuchtinger T,Einsele H,Führer M,Weinstock C,Handgretinger R,Kuci S,Martin D,Niethammer D,Greil J

更新日期：2004-01-01 00:00:00

abstract：:We report the analysis of prognostic factors in a cohort of 660 patients entered in the first Medical Research Council trial in chronic lymphocytic leukaemia (CLL) between 1978 and 1984. The majority (94%) of patients were aged 50 or over and the number of men (M) was almost twice that of women (F) with an M:F ratio o...

journal_title：British journal of haematology

authors： Catovsky D,Fooks J,Richards S

更新日期：1989-06-01 00:00:00

abstract：:Expression of heat-shock proteins (hsp) was analysed in the leukaemic cells of 12 patients with acute myeloid leukaemia (AML) and nine patients with chronic myeloid leukaemia (CML). Using monoclonal antibodies to hsp70, hsp90 and hsp60 (ML30, a mycobacterial antigen with homology to human hsp60), we measured hsp level...

journal_title：British journal of haematology

authors： Chant ID,Rose PE,Morris AG

更新日期：1995-05-01 00:00:00

abstract：:This study describes the effect of ferritin on lymphocyte function in vitro. Peripheral blood lymphocytes isolated from normal donors were incubated with purified human splenic ferritin, and the mitogenic effect of phytohaemagglutinin (PHA), concanavalin A (Con A), pokeweed mitogen (PWM) and mixed lymphocyte reaction ...

journal_title：British journal of haematology

authors： Matzner Y,Hershko C,Polliack A,Konijn AM,Izak G

更新日期：1979-07-01 00:00:00

abstract：:The impact of age upon therapeutic response to unfractionated heparin (UFH) in children is proposed to reflect quantitative and potentially qualitative differences in coagulation proteins across childhood. This study explores the UFH-dependent tissue factor pathway inhibitor (TFPI) release in children compared to prev...

journal_title：British journal of haematology

authors： Newall F,Johnston L,Summerhayes R,Lane G,Cranswick N,Monagle P,Ignjatovic V

更新日期：2010-11-01 00:00:00

abstract：:The combined incidence of classical Philadelphia-negative myeloproliferative neoplasm (MPN) is 6-9/100 000 with a peak frequency between 50 and 70 years. MPN is less frequent in women of reproductive age. However, for essential thrombocythaemia (ET) in particular there is a second peak in women of reproductive age and...

journal_title：British journal of haematology

authors： Robinson SE,Harrison CN

更新日期：2020-05-01 00:00:00

abstract：:Three patients with probable congenital erythrocytosis were studied to determine the role of erythropoietin (ESF) in their disease. In addition, haemoglobin function was measured and ESF excretion determined in response to reduction in the haemoglobin concentration. In two cases ESF excretion was clearly elevated abov...

journal_title：British journal of haematology

authors： Whitcomb WH,Peschle C,Moore M,Nitschke R,Adamson JW

更新日期：1980-01-01 00:00:00

abstract：:Bone sialoprotein (BSP) is a glycoprotein essentially found in mineralizing connective tissues. We have recently demonstrated that BSP is ectopically expressed by carcinomas that metastasize to bone with high frequency. Multiple myeloma (MM) is characterized by the localization of tumour plasma cells in the bone marro...

journal_title：British journal of haematology

authors： Bellahcène A,Van Riet I,de Greef C,Antoine N,Young MF,Van Camp B,Castronovo V

更新日期：2000-12-01 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：:Asparaginase (ASNase) is an important anti-leukaemic drug in the treatment of childhood acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL). A substantial proportion of patients develop hypersensitivity reactions with anti-ASNase neutralising antibodies, resulting in allergic reactions or silent inactiv...

journal_title：British journal of haematology

authors： Mondelaers V,Ferster A,Uyttebroeck A,Brichard B,van der Werff Ten Bosch J,Norga K,Francotte N,Piette C,Vandemeulebroecke K,Verbeke C,Schmidt S,Benoit Y,Lammens T,De Moerloose B

更新日期：2020-07-01 00:00:00

abstract：:Cyclosporin A (CSA) exhibits greater multidrug resistance (MDR) modulating activity in vitro than other MDR modulators such as verapamil and quinidine. However, the immunosuppressive and nephrotoxic effects of CSA may limit its clinical use. PSC 833, a new cyclosporin D derivative, exerts a higher MDR reversal activit...

journal_title：British journal of haematology

authors： Jiang XR,Kelsey SM,Wu YL,Newland AC

更新日期：1995-06-01 00:00:00

abstract：:We report on two adult patients with CD10+ positive acute lymphoblastic leukaemia (ALL) who presented with similar clinical and laboratory features and with a new chromosomal translocation: t(3;17)(q23;q21). This translocation may be involved in the formation of a new chimaeric transcription factor. Both patients shar...

journal_title：British journal of haematology

authors： Raanani P,Berkowicz M,Rosner E,Rosenthal E,Berman S,Rechavi G,Ben-Bassat I

更新日期：1996-10-01 00:00:00

abstract：:Acute graft-versus-host disease (GvHD) is an important complication of bone marrow transplantation in humans. Risk factors are imprecisely defined and controversial. We analysed data from 2036 recipients of HLA-identical sibling transplants for leukaemia or aplastic anaemia to identify risk factors for GvHD. Analyses ...

journal_title：British journal of haematology

authors： Gale RP,Bortin MM,van Bekkum DW,Biggs JC,Dicke KA,Gluckman E,Good RA,Hoffmann RG,Kay HE,Kersey JH

更新日期：1987-12-01 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：:Novel therapies with increased efficacy and decreased toxicity are desperately needed for the treatment of acute myeloid leukaemia (AML). The anti CD33 immunoconjugate, gemtuzumab ozogamicin (GO), was withdrawn with concerns over induction mortality and lack of efficacy. However a number of recent trials suggest that,...

journal_title：British journal of haematology

authors： Gasiorowski RE,Clark GJ,Bradstock K,Hart DN

更新日期：2014-02-01 00:00:00

abstract：:Risk factors for acute graft-versus-host disease (GvHD) remain controversial. We performed uni- and multivariate statistical analyses on a series of 37 patients receiving a non-depleted allogeneic bone marrow transplant from an HLA-identical sibling donor for a haematological malignancy, in order to identify risk fact...

journal_title：British journal of haematology

authors： Bagot M,Mary JY,Heslan M,Kuentz M,Cordonnier C,Vernant JP,Dubertret L,Levy JP

更新日期：1988-12-01 00:00:00

abstract：:The molecular basis accounting for the peculiar clinical and biological features of hairy cell leukaemia (HCL) is currently unknown. Deregulation of cell cycle genes plays a significant role in oncogenesis and there is considerable evidence suggesting that Cdk inhibitors (Ckis) function as tumour suppressors. We and o...

journal_title：British journal of haematology

authors： Chilosi M,Chiarle R,Lestani M,Menestrina F,Montagna L,Ambrosetti A,Prolla G,Pizzolo G,Doglioni C,Piva R,Pagano M,Inghirami G

更新日期：2000-10-01 00:00:00

abstract：:Sickle cell disease (SCD) is complicated by silent cerebral infarcts, visible as white matter hyperintensities (WMHs) on magnetic resonance imaging (MRI). Both local vaso-occlusion, elicited by endothelial dysfunction, and insufficiency of cerebral blood flow (CBF) have been proposed to be involved in the aetiology. W...

journal_title：British journal of haematology

authors： van der Land V,Mutsaerts HJ,Engelen M,Heijboer H,Roest M,Hollestelle MJ,Kuijpers TW,Nederkoorn PJ,Cnossen MH,Majoie CB,Nederveen AJ,Fijnvandraat K

更新日期：2016-01-01 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

abstract：:Transient myeloproliferative disorder accompanied by Down's syndrome has been characterized as exhibiting self-limiting haematological abnormalities. We studied six patients suffering from this disorder in order to clarify the biological nature of their blast cells. Metaphases of leucocytes stimulated with phytohaemag...

journal_title：British journal of haematology

authors： Suda J,Eguchi M,Ozawa T,Furukawa T,Hayashi Y,Kojima S,Maeda H,Tadokoro K,Sato Y,Miura Y

更新日期：1988-02-01 00:00:00