Abstract:
:Type IIB is a special variant of von Willebrand's disease, characterized by an abnormal von Willebrand factor which shows an increased interaction with platelets. This interaction sometimes causes platelet aggregation and thrombocytopenia in vivo. It involves the glycoprotein-Ib (GPIb) receptor on platelets and corresponding GPIb-binding sites in the von Willebrand factor. We here demonstrate a C----T mutation at codon 1308 of the von Willebrand factor gene in 2 related patients with IIB von Willebrand's disease. The transition gives rise to a substitution of arginine by cysteine at position 545 of the mature von Willebrand factor subunit. This position is close to the GPIb- as well as the collagen- and heparin-binding domains of the von Willebrand factor. The mutation may change the conformation of the molecule in this region and activate the GPIb-binding domain, which is normally not exposed in the von Willebrand factor of circulating blood.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
Donnér M,Andersson AM,Kristoffersson AC,Nilsson IM,Dahlbäck B,Holmberg Ldoi
10.1111/j.1600-0609.1991.tb01858.xsubject
Has Abstractpub_date
1991-11-01 00:00:00pages
342-5issue
5eissn
0902-4441issn
1600-0609journal_volume
47pub_type
杂志文章abstract::The cycling rate of haemopoietic stem cells (day 9 CFU-S) and granulocyte-macrophage colony forming cells (GM-CFC) in mouse femora was, in response to reduced numbers, elevated at all times of sampling between 3 weeks and 10 months after 4 repeated doses of 4.5 Gy X-rays (3 wk between doses). The level of a stimulator...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb01193.x
更新日期:1988-09-01 00:00:00
abstract::Haemoglobin (Hb) Hope [beta136(H14)Gly-->Asp(GGT-->GAT)] is one of the unstable haemoglobin variants of the beta-globin chain, which is demonstrated in people of various ethnic backgrounds. Here we report a Thai female patient with clinical thalassaemia intermedia since childhood. This patient had experienced neither ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2007.00907.x
更新日期:2007-09-01 00:00:00
abstract::Patients with essential thrombocythemia (ET) often suffer from neurological symptoms (NS) not ever resulting from previous thrombotic cerebral events (TCE). We reported NS occurred in 282 patients, in order to identify the factors influencing ET-related NS in the absence of TCE, and the response to therapy. Overall, 1...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12638
更新日期:2016-06-01 00:00:00
abstract::Emicizumab, a bispecific humanised monoclonal antibody restoring to some extent the function of activated FVIII deficient in haemophilia A, represents a major therapeutic advance in the management of haemophilia A patients. No dosage adjustment is required, which leads to a major change for patients used to regular bi...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/ejh.13490
更新日期:2020-12-01 00:00:00
abstract::It is well-documented that iron chelation by desferrioxamine protects/improves the cardiac function in blood transfusion-dependent children suffering from beta-thalassaemia. In patients who do not become dependent upon blood transfusion until adulthood (ANT-patients), iron chelation by desferrioxamine may affect the c...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1997.tb00981.x
更新日期:1997-10-01 00:00:00
abstract::The Hermansky-Pudlak syndrome (HPS) is a rare genetically heterogeneous autosomal recessive disorder, characterized by tyrosinase-positive oculocutaneous albinism, platelet dysfunction and lysosomal ceroid lipofuscin storage. This is caused by defects in lysosome-related organelles. In humans eight different types of ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2007.01024.x
更新日期:2008-04-01 00:00:00
abstract::A flow cytometric assay for measurements of leukocyte CD11b expression in whole blood has been developed and evaluated. The method is based on triggering of the flow cytometer by a fluorescent pan leukocyte marker, RPE-CD45. This enabled flow cytometric analysis in whole blood, and avoidance of in vitro artefacts rela...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.90198.x
更新日期:2000-07-01 00:00:00
abstract::The clinicopathological features of human immunodeficiency virus (HIV)-associated lymphoma were investigated in a retrospective study of 85 adult patients in eastern Denmark diagnosed during the period 1990-1996. The possible pathogenetic role of Epstein-Barr virus (EBV) and human herpesvirus 8 (HHV-8) in these tumour...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.90126.x
更新日期:2000-06-01 00:00:00
abstract:OBJECTIVES:An aberrant pattern of expression of L-selectin and intercellular adhesion molecule 1 (ICAM1) may characterise CD34+ blast cells in myelodysplastic syndromes (MDS) and secondary acute myeloid leukaemia (sAML). METHODS:In a three-colour flow cytometric assay, we evaluated the expression of L-selectin and ICA...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2007.00986.x
更新日期:2008-02-01 00:00:00
abstract:OBJECTIVE:Diagnosing myeloid sarcoma remains challenging, and we aimed to provide clinicopathological features to facilitate diagnosis. METHOD:Clinicopathological data from 41 patients with de novo and 31 with secondary myeloid sarcoma were reviewed. RESULTS:Most de novo cases presented with isolated myeloid sarcoma ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13056
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVES:To evaluate differences in clinical results according to age among patients with chronic myeloid leukemia (CML). METHODS:207 consecutive CML patients treated with imatinib frontline were revised, dividing them in young adults (>20 < 45 years) (YA), middle-aged adults (≥45 < 65 years) (MA) and elderly (≥65 y...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13110
更新日期:2018-06-13 00:00:00
abstract::A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a beta-globin chain variant is reported in a 3-yr-old Thai girl. On routine cellulose acetate electrophoresis, one abnormal band in addition to the hemoglobins A, A2, H, Bart's and Constant Spring was detected. The amount of this abnorma...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2001.066005312.x
更新日期:2001-05-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to evaluate serum leptin levels in idiopathic thrombocytopenic purpura (ITP), in order to determine the influence of leptin on the pathogenesis of ITP. SUBJECTS AND METHODS:Forty-six untreated patients with chronic ITP were compared with 40 healthy people of similar age, sex an...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2004.00231.x
更新日期:2004-05-01 00:00:00
abstract::Cobalamin levels are frequently low in patients with dementia, but it is unclear if they represent definable deficiency and what the mechanisms are. Therefore, patients being evaluated for dementia who had low cobalamin levels but no obvious evidence of deficiency were studied hematologically, neurologically and with ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1995.tb00679.x
更新日期:1995-04-01 00:00:00
abstract::We demonstrate the in vivo effects of bacterially synthesized, N-methionine-free recombinant human granulocyte-macrophage colony stimulating factor (rh GM-CSF) using a crab-eating monkey model. Monkeys were treated with cyclophosphamide (60 mg/kg) and administered with rh GM-CSF (30 micrograms/kg/d) subcutaneously (s....
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00358.x
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVES:Northern Norway consists of a multiethnic population of Sámi and non-Sámi. We evaluated iron status in these two groups with respect to gender, age and residence. METHODS:In 2002-2004, a cross-sectional study of health and living conditions in areas with both Sámi and Norwegian populations, SAMINOR, was per...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2007.00929.x
更新日期:2007-11-01 00:00:00
abstract::Very high-dose chemotherapy with autologous blood stem cell (BSC) rescue becomes more and more widely performed. In order to simplify the technique, a large volume apheresis programme combined with an uncontrolled rate cryopreservation at -80 degrees C was developed. Twenty-six patients suffering from multiple myeloma...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.1996.tb00715.x
更新日期:1996-05-01 00:00:00
abstract::In acute myeloid leukemia (AML) mouse models, the RUNX1-RUNX1T1 fusion protein has failed to produce leukemia by itself, but alternative splicing of exon 9a of the RUNX1-RUNX1T1 fusion transcript (FT) has recently been shown to enhance the leukemogenic potential. We have analyzed 138 diagnosis and follow-up samples fr...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01371.x
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVES:Here, we tested the hypothesis that human M-CSF (hM-CSF) overexpressed in cord blood (CB) CD34+ cells would induce differentiation and survival of monocytes and osteoclasts in vitro and in vivo. METHODS:Human M-CSF was overexpressed in cord blood CD34+ cells using a lentiviral vector. RESULTS:We show that ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12867
更新日期:2017-05-01 00:00:00
abstract::We report a case of T-cell hairy-cell leukemia with a dual rearrangement of Ig- and T-cell receptor genes. The cytochemical, transmission electron microscopy, and surface antigens data (CD3+, CD8+, CD11+, HLA-DR+, CD19-, CD20-) were consistent with a T-cell hairy-cell leukemia. Molecular analysis according to Southern...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1991.tb00525.x
更新日期:1991-02-01 00:00:00
abstract::The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23.3 has been reported to be frequently mutated in a number of solid tumours. Less is known about its status in leukaemia. In the present study we first analysed 13 leukaemia cell lines for mutations and homozygous deletions in MMAC1/PTEN using P...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.90181.x
更新日期:2000-08-01 00:00:00
abstract::The introduction of novel immunomodulatory drugs (IMiDs) has dramatically improved the survival of patients with multiple myeloma (MM). While it has been shown that patients with specific cytogenetic subtypes, namely t(4;14), have the best outcomes when treated with bortezomib-based regimens, the relationship between ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12192
更新日期:2013-12-01 00:00:00
abstract::27 patients with pernicious anaemia, followed for a long period, were consecutively treated with three different vitamin B12 preparations, while during intervening period no therapy was given until signs of B12 deficiency developed. After vitamin B12 treatment, a peak whole blood folate value some 70% higher than the ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1987.tb00161.x
更新日期:1987-07-01 00:00:00
abstract:OBJECTIVES:Current prognostic models for myelodysplastic syndrome (MDS) do not consider the prognostic value of a bone marrow blast level that is <5%. Exploring the prognostic value of the International Prognostic Scoring System (IPSS) and a marrow blast level that is <5% may lead to better risk-adapted therapeutic str...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01343.x
更新日期:2009-12-01 00:00:00
abstract::The present study aims at expressing a reporter gene in hematopoietic cells in vivo by introducing it into primitive hematopoietic cells with a 2-gene retroviral vector. Various constructs of retroviral vectors containing the human IL-2 receptor alpha chain gene (TAC) as the reporter and the neomycin phosphotransferas...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1996.tb01378.x
更新日期:1996-10-01 00:00:00
abstract::In a phase II study 28 patients with advanced multiple myeloma were treated with a five drug regimen consisting of vincristine, BCNU, adriamycin, melphalan and dexamethasone. 11 out of 13 patients without prior chemotherapy showed significant remissions (greater than 25% tumor cells mass reduction), 7 of them had more...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb00831.x
更新日期:1988-03-01 00:00:00
abstract::The value of Y-body study for assessment of haemopoietic engraftment was analyzed in 50 consecutive patients submitted to allogeneic bone marrow transplantation (BMT) (sex-matched in 28 cases, sex-mismatched in 22). The study was performed weekly on bone marrow and peripheral blood smears in all cases, and alveolar ma...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb00851.x
更新日期:1988-05-01 00:00:00
abstract::In patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), expression of the hematopoietic stem cell marker CD34 has been associated with a poorer prognosis. CD34 is usually analyzed by flow cytometry (FC), but may also be analyzed using immunohistochemistry (IH). The present study was undertak...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1996.tb01330.x
更新日期:1996-03-01 00:00:00
abstract:BACKGROUND:Constitutive activation of STAT5 (by phosphorylation) has been identified in a number of malignancies, including acute myeloid leukemia (AML). OBJECTIVES:We investigated whether the level of phosphorylated STAT5 (pSTAT5) expression correlates with clinical outcome in AML. METHODS:Adult patients with newly ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2012.01825.x
更新日期:2012-10-01 00:00:00
abstract::We describe a case of acute promyelocytic leukemia in a 61-yr-old woman with a cryptic insertion of RARA gene into PML gene. Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML-RARA transcript and lack of the reciprocal RARA-PML transcript. Although such cryptic...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12326
更新日期:2014-10-01 00:00:00