Abstract:
:This report describes a family with TUBB1-associated macrothrombocytopenia diagnosed based on abnormal platelet β1-tubulin distribution. A circumferential marginal microtubule band was undetectable, whereas microtubules were frayed and disorganized in every platelet from the affected individuals. Patients were heterozygous for novel TUBB1 p.F260S that locates at the α- and β-tubulin intradimer interface. Mutant β1-tubulin was not incorporated into microtubules with endogenous α-tubulin, and α-tubulin expression was decreased in transfected Chinese hamster ovary cells. Transduction of mutant β1-tubulin into mouse fetal liver-derived megakaryocytes demonstrated no incorporation of mutant β1-tubulin into microtubules with endogenous α-tubulin and diminished proplatelet formation, leading to the production of fewer, but larger, proplatelet tips. Furthermore, mutant β1-tubulin was not associated with endogenous α-tubulin in the proplatelets. Deficient functional microtubules might lead to defective proplatelet formation and abnormal protrusion-like platelet release, resulting in congenital macrothrombocytopenia.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
Kunishima S,Nishimura S,Suzuki H,Imaizumi M,Saito Hdoi
10.1111/ejh.12252subject
Has Abstractpub_date
2014-04-01 00:00:00pages
276-82issue
4eissn
0902-4441issn
1600-0609journal_volume
92pub_type
杂志文章abstract::We report the first case of primary sclerosing cholangitis (PSC) complicated with plasma cell dyscrasia (PCD) in which liver transplant resulted in unexpected therapeutic benefit of PCD. A 61-year-old man with 12 yr history of PSC presented with a monoclonal gammopathy of undetermined significance (MGUS) with an IgG l...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.0902-4441.2005.00589.x
更新日期:2006-02-01 00:00:00
abstract::A 1-yr-old Japanese male infant developed hepatitis-associated aplastic anemia (AA), and anti-thymocyte globulin (ATG) plus cyclosporine A (CsA) was administered without any appreciable effects. Laboratory examination of the patient's serum obtained before therapy revealed various autoantibodies, such as PA-IgG, anti-...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2011.01612.x
更新日期:2011-06-01 00:00:00
abstract::It is well-known that uremic patients present prolonged bleeding times as a common complication. Factors responsible for this disorder have been extensively investigated. In order to elucidate the possible role of uremic middle molecules as responsible for the bleeding tendency observed in uremia, we have studied the ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1987.tb00757.x
更新日期:1987-09-01 00:00:00
abstract::Thirty-four patients with myelodysplastic syndromes, 23 men and 11 women, aged between 47 and 80 years, with all types of myelodysplastic syndromes were treated with 13-cis-retinoic acid. The dose of retinoic acid ranged between 10 and 60 mg/m2/daily and was administered in combination with vitamin E to diminish side ...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.1995.tb00263.x
更新日期:1995-10-01 00:00:00
abstract:BACKGROUND:Interleukin-6 (IL-6) is a multifunctional cytokine that plays roles in the immune response, inflammation and hematopoiesis. Serum IL-6 levels have reported to reflect disease severity and high tumor burden in multiple myeloma (MM) patients and to correlate with several other laboratory parameters. Serum-solu...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2001.00152.x
更新日期:2001-01-01 00:00:00
abstract::Multiple myeloma (MM) is considered to be an essentially incurable haematological malignant disease, probably because of the existence of resistant clonal precursor cell with self-renewal capacity. Recent data have indicated that the myeloma cell hierarchy includes circulating clonal memory B cells, which differ consi...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1034/j.1600-0609.2003.00068.x
更新日期:2003-06-01 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 AND METHODS:We conducted a retrospective analysis to evaluate the outcomes of 28 heavily pretreated (median 3 (2-6) treatment lines, sixteen (57%) allotransplanted) relapsed/refractory acute myeloid leukemia patients who had failed salvage venetoclax-based therapies. RESULTS:The median age was 59 years (20-...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13527
更新日期:2021-01-01 00:00:00
abstract:UNLABELLED:Protein C (PC) deficiency is an autosomal dominant inherited disorder associated with spontaneous and recurrent thrombotic events. Factor V Leiden (FVL) increases the risk of thrombosis in PC-deficient type I families. We have investigated the relationship between PC deficiency genotype and clinical phenotyp...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2011.01742.x
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:This review describes the safety of deferoxamine (DFO), deferiprone (DFP), deferasirox (DFX) and combined therapy in young patients less than 25 yr of age with haemoglobinopathies. METHODS:Searches in electronic literature databases were performed. Studies reporting adverse events associated with iron chela...
journal_title:European journal of haematology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/ejh.12833
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVES:An increased rate of platelet production is a possible cause of reduced antithrombotic response to once-daily aspirin. Markers of immature platelets (IPs), such as immature platelet count (IPC), immature platelet fraction (IPF), and mean platelet volume (MPV) might be useful for identifying patients who have...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13109
更新日期:2018-09-01 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
abstract::Bcl-2 expression, the number of apoptotic cells and the growth and differentiation of early bone marrow progenitor cells were studied in patients with confirmed diagnosis of acute myeloid leukaemia (AML). Bone marrow cells from normal individuals were used as controls. We observed an increased percentage of bcl-2-mono...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1999.tb01112.x
更新日期:1999-01-01 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:OBJECTIVE:To characterize the underlying genetic and molecular defects in a consanguineous family with lifelong blood disorder manifested with thrombocytopenia (low platelets count) and anemia. METHODS:Genetic linkage analysis, exome sequencing, and functional genomics were carried out to identify and characterize the...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12819
更新日期:2017-03-01 00:00:00
abstract::Platelet refractoriness arising from HLA immunization develops in 20-50% of multitransfused patients with hematologic malignancies. We retrospectively analyzed the efficiency of leukocyte-depleted blood components in preventing refractoriness in 140 adult patients with acute myeloid leukemia (AML), treated according t...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1994.tb01872.x
更新日期:1994-08-01 00:00:00
abstract::ECP (eosinophil cationic protein) was purified in high yield from the granules of human buffy coat eosinophils obtained from healthy individuals. The separation procedure included gel filtration on Sephadex G-75, ion-exchange chromatography on Bio Rex 70, and chelating chromatography on zinc-chelate Sepharose 6B. The ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb00850.x
更新日期:1988-05-01 00:00:00
abstract::We report the case of an Epstein-Barr virus (EBV)- and human immunodeficiency virus-serum negative patient suffering from repeatedly relapsing classical Hodgkin's Lymphoma (cHL) associated with a histological picture of plasma cell-hyaline vascular (PC-HV) form of Castleman's disease (CD). The CD30- and CD15-positive,...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2007.00952.x
更新日期:2007-11-01 00:00:00
abstract::Iron-related changes in peripheral blood and variations in liver and spleen iron concentrations during alternating periods of hypoxia and normoxia have been investigated in iron-supplemented mice by chemical and histological methods. During hypoxia, packed cell volume increased from 40 to 70%. The iron content of the ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00348.x
更新日期:1990-01-01 00:00:00
abstract::Immune thrombocytopenic purpura (ITP) is an autoimmune disorder, and high-dose dexamethasome (HD-DXM) has been used as a first-line therapy for patients with ITP. However, little is known about the role of dendritic cells (DCs) and CD4(+)Foxp3(+) regulatory T (Treg) cells in the pathogenesis of chronic ITP and the eff...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.2007.00917.x
更新日期:2007-10-01 00:00:00
abstract:INTRODUCTION:Health-related quality of life (HRQoL) is impaired in patients with hemophilia; however, the impact in mild/moderate hemophilia B and affected women is not well characterized. OBJECTIVE:To evaluate factors that affect HRQoL in adults with hemophilia B and caregivers of affected children. METHODS:US adult...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13055
更新日期:2018-06-01 00:00:00
abstract::Angiogenesis is critical for the clinical progression of haematopoietic malignancies and depends on angiogenic factors. Angiogenin is a powerful factor produced by neoplastic cells and host microenvironment. High levels of soluble angiogenin (sAng) correlate with a poor prognosis in patients affected by acute myeloid ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2004.00253.x
更新日期:2004-06-01 00:00:00
abstract::From a retrospective multivariate study on 107 multiple myeloma (MM) patients, serum beta 2-microglobulin (beta 2M) proved to be the best prognostic discriminator, better than each of the currently used staging systems (Durie and Salmon's [DS], Merlini, Waldenström and Jayakar's [MWJ] and the British Medical Research ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1991.tb01273.x
更新日期:1991-03-01 00:00:00
abstract::The purpose of this study was to analyse the influence of the hospital size, measured as the number of annual patient enrolments in the Finnish Leukaemia Group trials in the period 1979-85, on response rate and survival after conventional chemotherapy for multiple myeloma. The 432 myeloma patients for this study were ...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1111/j.1600-0609.1999.tb01882.x
更新日期:1999-10-01 00:00:00
abstract::Cardiac disease is the primary cause of mortality in beta-thalassemia patients. Except for ventricular dysfunction and pulmonary hypertension that represent the main forms of heart disease in these patients, valvular abnormalities including valvular regurgitation, endocardial thickening and calcification and mitral va...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2004.00213.x
更新日期:2004-04-01 00:00:00
abstract::During the period 1978-1982 in the three northernmost countries of Sweden all 143 patients with a registered diagnosis of chronic lymphocytic leukemia (CLL) were retrospectively analyzed. After re-evaluation, 122 cases remained in the study. The mean age was 71 years and the male/female ratio was 2.2:1. Sixty-one pati...
journal_title:European journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1600-0609.1994.tb01295.x
更新日期:1994-02-01 00:00:00
abstract::Ten patients, who received cadaveric kidneys, were followed for 24 wk with serial measurements of serum erythropoietin (S-Epo), transferrin receptor (S-TfR) and iron variables. The mean pretransplant creatinine clearance was 8.2 (range 0-22) ml/min and the mean haemoglobin (Hb) level was 99 +/- 18.6 (range 66-124) g/l...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1997.tb00943.x
更新日期:1997-03-01 00:00:00
abstract::The therapeutic management of patients with idiopathic hemochromatosis (IH) requires an accurate estimate of hepatic iron overload in order to prevent tissue fibrosis and organ failure. Magnetic resonance imaging (MRI) was used to estimate liver iron overload in 5 patients with IH and in 8 normal controls. Signal inte...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1991.tb01551.x
更新日期:1991-09-01 00:00:00
abstract:OBJECTIVES:Overexpression of FK506 binding protein 51 (FKBP51) in megakaryocytic progenitor cells generated from purified CD34+ cells in patients with idiopathic myelofibrosis (IMF) has been demonstrated. It has been suggested that FKBP51 is involved in the dysregulation of the apoptotic programme with consecutive prol...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1046/j.0902-4441.2003.00204.x
更新日期:2004-04-01 00:00:00
abstract::While cellular modulation in vitro of committed hematopoietic stem cell (HSC) growth has been known for some time, less is known about the effect of accessory cells (AC) on the growth of more immature HSC. We have examined the effect of peripheral blood (PB) AC on hematopoiesis by coculturing enriched PB CD34+ cells (...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2002.01520.x
更新日期:2002-02-01 00:00:00