Abstract:
:Sixty patients with von Willebrand's disease belonging to 34 unrelated families were classified into the various types of the disease by analysis of the multimer patterns of von Willebrand factor. Type I disease was observed in 62% of the families, a finding similar to the recently published British and Swedish series of patients. Type III (severe) von Willebrand's disease was observed more frequently in the Israeli group (29%) than in the other two series. Of the 16 patients with type III disease eight were Arabs living in Israel, the West Bank and the Gaza Strip (total population about 1.5 X 10(6). Thus, it appears that the frequency of type III disease is very high among Arabs (5.3/10(6]. Sibship analysis of all families affected by the type III mutant gene was compatible with an autosomal recessive mode of inheritance. An attempt was made to define carriers of type III disease and to distinguish them from type I patients and from healthy subjects. In 15 obligate carriers of type III disease mean levels of factor VIII clotting activity, of von Willebrand factor and of ristocetin cofactor were significantly higher than the corresponding mean values observed in 31 symptomatic and 12 asymptomatic type I patients, and in turn significantly lower than the corresponding mean values observed in 30 healthy subjects. Ristocetin cofactor was the best criterion for discrimination among carriers of type III disease, normal subjects and type I patients.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Berliner SA,Seligsohn U,Zivelin A,Zwang E,Sofferman Gdoi
10.1111/j.1365-2141.1986.tb02966.xsubject
Has Abstractpub_date
1986-03-01 00:00:00pages
535-43issue
3eissn
0007-1048issn
1365-2141journal_volume
62pub_type
杂志文章abstract::The activities of glucose-6-phosphate dehydrogenase (D-glucose-6-phosphate: NADP oxidoreductase, G6PD), 6-phosphogluconate dehydrogenase (6-phospho-D-gluconate: NADP oxidoreductase, 6PGD), hexokinase (ATP: D-hexose 6-phosphotransferase, Hx), lactate dehydrogenase (D-lactate: NAD oxidoreductase, LDH). glutamate oxaloac...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1975.tb01823.x
更新日期:1975-02-01 00:00:00
abstract::Adult survivors of childhood acute lymphoblastic leukaemia (ALL) have a four-fold excess risk of mortality from cardiovascular disease. This cardiovascular risk has not been fully characterized. ALL survivors [n = 784, median age 31·7 years (18·9-59·1)] in the St. Jude Lifetime Cohort Study underwent evaluation for ca...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12754
更新日期:2014-05-01 00:00:00
abstract::In countries with a good standard of health care, intracranial haemorrhage (ICH) during the neonatal period affects 3.5-4.0% of all haemophilia boys, which is considerably (40-80 times) higher than expected in the normal population. ICHs are also frequent after the neonatal period, affecting 3-10% of the haemophilia p...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2007.06949.x
更新日期:2008-02-01 00:00:00
abstract::The clonalities in white blood cells (WBC) of blood and nucleated bone marrow cells from patients with refractory anaemia and aplastic anaemia were examined by polymerase chain reaction (PCR) methods using the polymorphic short tandem repeat (STR) on the human androgen-receptor gene (HUMARA). Peripheral blood samples ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb08422.x
更新日期:1995-04-01 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
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.05244.x
更新日期:2004-12-01 00:00:00
abstract::Peripheral blood and bone marrow mononuclear cells from 10 patients with newly diagnosed Waldenström's macroglobulinaemia were analysed for the presence of leucocyte differentiation antigens using flow cytometry. Most patients had circulating intracytoplasmic-mu cells that were positive for the B-cell specific antigen...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb04139.x
更新日期:1987-04-01 00:00:00
abstract::We have tested the different mononuclear blood cell populations of seven patients with severe haemophilia and one patient with F VII deficiency for the presence of HBV DNA. These subjects were all polytransfused with non-heated coagulation factors; three were HBsAg positive, five HBsAg negative but anti-HBc and anti-H...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb02262.x
更新日期:1987-02-01 00:00:00
abstract::Haemophilia B Leyden is characterized by severe factor IX deficiency during childhood with partial resolution at puberty or following the administration of anabolic steroids. The disorder has recently been associated with point mutations in the putative factor IX promoter region, which contains an imperfect direct rep...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1991.tb07976.x
更新日期:1991-02-01 00:00:00
abstract::We have previously shown that polymorphonuclear leucocytes (PMN) harvested from children with cancer and exposed to chemotherapy exhibit defective bactericidal activities against both Gram-positive and Gram-negative microorganisms as well as accelerated apoptosis. In this study, PMN from children with cancer were eval...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01589.x
更新日期:1999-09-01 00:00:00
abstract::We detected two transversions in two unrelated Italian patients with type 2A von Willebrand disease (VWD): a C to A at nucleotide 8821 and a T to A at nucleotide 8830, resulting in the missense mutations Pro864His and Val867Glu respectively. Both mutations were in the heterozygous form and abolished the BstXI restrict...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.01064.x
更新日期:1998-12-01 00:00:00
abstract::A 70-year-old man from an endemic area of human T-cell lymphotropic virus type I (HTLV-I) developed rapid generalized lymphadenopathy and abdominal tumours. The white blood cell count was 198.3 x 10(9)/l with 93% lymphocytes, 66.3% of which expressed large granular lymphocytes (LGLs). Bone marrow and lymph nodes were ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb04745.x
更新日期:1994-02-01 00:00:00
abstract::Hepatocyte growth factor (HGF) has been known as a versatile functional molecule, and as being involved in the colony formation of haemopoietic progenitor cells. Clinically, an elevated HGF level in the blood has been associated with liver diseases such as fulminant hepatic failure and acute hepatitis. We have found a...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb08330.x
更新日期:1994-07-01 00:00:00
abstract::In 2019 the UK Myeloma Research Alliance introduced the Myeloma Risk Profile (MRP) for prediction of outcome in patients with newly diagnosed multiple myeloma (MM), ineligible for autologous stem cell transplantation. To validate the MRP in a population-based setting we performed a study of the entire cohort of transp...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.16806
更新日期:2020-06-09 00:00:00
abstract::Leukaemic stem cells (LSC) have been experimentally defined as the leukaemia-propagating population and are thought to be the cellular reservoir of relapse in acute myeloid leukaemia (AML). Therefore, LSC measurements are warranted to facilitate accurate risk stratification. Previously, we published the composition of...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.16594
更新日期:2020-09-01 00:00:00
abstract::The sensitivity of populations of human granulocyte precursors to factors with colony stimulating activity (CSA) was assessed in agar culture in vitro. The mean threshold of stimulation was estimated by analysis of dose-response curves of clone growth against concentration of CSA. This method of assessment has the adv...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1979.tb05892.x
更新日期:1979-04-01 00:00:00
abstract::Eltrombopag has been added to first-line treatment of immune aplastic anaemia (AA), resulting in higher responses. We analysed marrow samples of AA patients who responded to immunosuppressive therapy (IST) alone or in combination with eltrombopag for the composition of the haematopoietic stem and progenitor cell (HSPC...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.17140
更新日期:2020-11-20 00:00:00
abstract::Polycythaemia vera (PV) patients have an overall comparatively favourable prognosis, but disease progression is very heterogeneous and life-threatening thrombosis and bleedings are frequent complications in untreated disease. Moreover, transformation to more severe secondary myelofibrosis and acute myeloid leukaemia c...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.16450
更新日期:2020-06-01 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
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2141.2008.07370.x
更新日期:2008-11-01 00:00:00
abstract::Persistent aplasia is a rare complication with poor prognosis after intensive chemotherapy for acute leukaemia. A 59-year-old man with acute myeloid leukaemia (AML), was treated after 186 d of chemotherapy-induced persistent aplasia with an allogeneic peripheral blood stem cell transplantation (PBSCT) from a matched u...
journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04060.x
更新日期:2003-01-01 00:00:00
abstract::In an ongoing effort to identify point mutations causing beta-thalassaemia, we have found two previously unreported mutations which are located in the Poly A site of the beta-globin gene. The screening programme used amplified DNA and dot-blot hybridization with several 32P-labelled oligonucleotide probes. DNA samples...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1990.tb02627.x
更新日期:1990-05-01 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
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2141.1995.tb05363.x
更新日期:1995-11-01 00:00:00
abstract::The levels of platelet-associated Igs (PAIgs) and plasma circulating antiplatelet antibodies were evaluated by a flow cytometric immunofluorescence assay (FCIFA), an enzyme-linked immunoassay (ELISA), and a platelet radioactive antiglobulin test (PRAT), in a group of 45 human immunodeficiency virus (HIV)-infected intr...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.00502.x
更新日期:1996-05-01 00:00:00
abstract::An elderly patient with no abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT). Preincubation of plasma with aPTT reagent caused shortening of the abnormal clotting time. Plasma prekallikrein (PK) activity and antigen were <5 u/dL. Molecular analysis showed a homozygous Ar...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.05180.x
更新日期:2004-10-01 00:00:00
abstract::Amiodarone has been implicated as a cause of thrombocytopenia but the responsible mechanism is unknown. We performed studies in three patients to characterize the pathogenesis of this complication. No amiodarone-dependent, platelet-reactive antibodies were identified using conventional serological techniques. However,...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12521
更新日期:2013-10-01 00:00:00
abstract::Commercial preparations of ferritin inhibited reticulocyte-lysate cell-free protein synthesis and disaggregated polyribosomes to monoribosomes and ribosomal subunits. These effects were prevented by addition of reduced glutathione (GSH) to the incubation medium, but ferritin did not lower GSH concentration in the lysa...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1976.tb00962.x
更新日期:1976-04-01 00:00:00
abstract::Colony-stimulating factor-1 (CSF-1) is a specific haematopoietic growth factor that stimulates the production of macrophages by both bone marrow macrophage precursors (GM-CFC) and certain more mature peripheral tissue macrophages. The relationship of CSF-1 utilization and cell production by macrophage precursors at va...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb06157.x
更新日期:1987-12-01 00:00:00
abstract::Accumulating evidence indicates that a graft-vs.-myeloma effect (GVM) and its associated clinical remission of the disease can be induced by donor lymphocyte infusion in myeloma patients who have relapsed after allogeneic bone marrow transplantation. Although it is believed that GVM is induced by allospecific T cells,...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.02531.x
更新日期:2001-02-01 00:00:00
abstract::Two hundred and twenty-six patients were diagnosed with myelodysplastic syndrome (MDS), according to the French-American-British (FAB) criteria, over a 13-year period, and studied retrospectively in a single institution in order to study indicators which were prognostically significant. Analysis of clinical and labora...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb05590.x
更新日期:1995-07-01 00:00:00
abstract::Familial haemophagocytic lymphohistiocytosis (FHLH) is a genetic disorder caused by defective lymphocyte cytotoxicity, resulting in impaired lymphocyte homeostasis and macrophage infiltration of solid tissues and bone marrow, with extensive haemophagocytosis. It is invariably fatal unless treated by allogeneic haemato...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05615.x
更新日期:2005-08-01 00:00:00