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 the syndrome are known, of which a short overview is given. The clinical features and a novel mutation of a patient with HPS type 5 are described here.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
Korswagen LA,Huizing M,Simsek S,Janssen JJ,Zweegman Sdoi
10.1111/j.1600-0609.2007.01024.xsubject
Has Abstractpub_date
2008-04-01 00:00:00pages
356-60issue
4eissn
0902-4441issn
1600-0609pii
EJH1024journal_volume
80pub_type
杂志文章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:BACKGROUND AND OBJECTIVES:Minimal residual disease (MRD) assessment by PCR in multiple myeloma (MM) has several shortcomings, including the lack of a suitable target. Kappa deleting element (KDE) rearrangements occur in virtually all Ig-lambda B-cell malignancies and in 1/3 of Ig-kappa are not affected by somatic hyper...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12000
更新日期:2012-10-01 00:00:00
abstract:PURPOSE:To determine the safety, dose-limiting toxicity and maximum tolerated dose (MTD) of the novel hydroxamate histone deacetylase inhibitor belinostat (PXD101) in patients with advanced hematological neoplasms. PATIENTS AND METHODS:Sequential dose-escalating cohorts of three to six patients with hematological mali...
journal_title:European journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1600-0609.2008.01102.x
更新日期:2008-09-01 00:00:00
abstract::Several studies have reported data on factors influencing mobilization of peripheral blood stem cells (PBSC) in non-myeloid malignancies. On the contrary, data from patients with acute myeloid leukemia (AML) are very limited, in particular, as the impact of an antecedent diagnosis of refractory anemia with excess blas...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2006.00777.x
更新日期:2007-01-01 00:00:00
abstract::To estimate the efficacy of human megakaryocyte purification techniques, mixtures of known numbers of megakaryocytes with a known ploidy range and of bone marrow or peripheral blood mononuclear cells were made. These artificial bone marrow samples were submitted to either a counterflow centrifugal elutriation or Perco...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1991.tb01575.x
更新日期:1991-10-01 00:00:00
abstract:INTRODUCTION:Prenatal diagnosis of severe alpha- and beta-thalasssemia diseases is usually performed by DNA analysis. OBJECTIVE:To establish a simple method, we have evaluated the reliability of prenatal diagnosis by fetal blood analysis using automated capillary electrophoresis system. METHODS:Forty-seven fetal bloo...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01245.x
更新日期:2009-07-01 00:00:00
abstract:UNLABELLED:The role of growth hormone (GH) for maintaining normal erythropoiesis among non-GH-deficient elderly subjects is not known. OBJECTIVES:To determine relationships between the concentrations of serum insulin-like growth factor-1 (IGF-1) and it's carrier protein insulin-like growth factor binding protein 3 (IG...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2004.00374.x
更新日期:2005-02-01 00:00:00
abstract::Serological analyses within epidemiological cohort and case-control studies indicate to an association between HBV infection and risk of multiple myeloma (MM). To verify the relationship with an independent approach, we investigated the correlation between HBV positivity and chromosomal aberrations within 680 patients...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12018
更新日期:2013-04-01 00:00:00
abstract:INTRODUCTION:Tumor cells of primary cutaneous T-cell lymphomas are able to adopt a regulatory T-cell phenotype in vitro. The significance of this finding in vivo is matter of debate. METHODS:We stained five cases with transformed mycosis fungoides (MF) with an antibody against FOXP3, which is a sensitive and specific ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2006.00809.x
更新日期:2007-03-01 00:00:00
abstract:OBJECTIVE:MicroRNAs engaged in angiogenesis and hematopoiesis can influence hematopoietic stem cells (HSCs) homing after transplantation by targeting bone marrow niche microenvironment. This study aimed to examine the kinetics of miRNA-15a, miRNA-16, miRNA-126, miRNA-146a, and miRNA-223 in autologous HSC transplantatio...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13036
更新日期:2018-05-01 00:00:00
abstract::This study was conducted in order to assess myocardial and liver iron concentrations (LICs) using serial magnetic resonance imaging (MRI) scans in patients with beta-thalassaemia major, over a 4-yr period, and consequently to compare the effectiveness of different chelation regimens. Fifty children and young adults wi...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.0902-4441.2006.t01-1-EJH3013.x
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Hypereosinophilia (HE, persistent peripheral blood eosinophilia > 1.5 × 109 /L) and hypereosinophilic syndrome (HES, HE with end-organ damage) are classified as primary (due to a myeloid clone), secondary (due to a wide variety of reactive causes), or idiopathic. Diagnostic evaluation of eosinophilia is chal...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13437
更新日期:2020-09-01 00:00:00
abstract:AIMS:Platelets retain cytoplasmic messenger RNA and are capable of protein biosynthesis. Several diseases are known to impact the platelet transcriptome but the effect of non-valvular atrial fibrillation (NVAF) on platelet RNA transcript is essentially unknown. The aim of this study was to evaluate the impact of NVAF o...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12879
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVES:The objective of this study was to compare the major transplant outcomes between patients receiving hematopoietic stem cell transplantation (HSCT) from bone marrow (BM) or peripheral blood stem cells (PBSC). METHODS:All consecutive HSCT patients using BM or PBSC from an HLA-matched related donors for haemat...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12508
更新日期:2015-11-01 00:00:00
abstract::We previously reported an increased risk of monoclonal gammopathy of undetermined significance (MGUS) in first-degree relatives of MGUS and multiple myeloma patients. Here, we examine whether primary cytogenetic categories of myeloma differ between patients with and without a family history of MGUS or myeloma. We stud...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12133
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVES:Interactions between hemopoietic cells and the stromal microenvironment or immunoreactive cells are mediated by specific cell surface receptors. The expression of those molecules may alter the adhesive qualities (mobility and homing) as well as immune response behavior of leukemic blasts. L-Selectin (CD62L) ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2003.00140.x
更新日期:2003-11-01 00:00:00
abstract::To investigate the role of protein phosphorylation in the early phase of EPO-mediated signal transduction, we EPO-stimulated a murine erythroid cell line ELM-I-1 transformed by plasmids comprised of the c-fos enhancer/promoter linked to the luciferase gene. Using this reporter gene system, we previously showed that EP...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1994.tb00647.x
更新日期:1994-04-01 00:00:00
abstract::Spontaneous remission in patients with acute myeloid leukemia (AML) is a rarely reported phenomenon of usually short duration. The etiology remains unclear, but an association with preceding blood transfusions or bacterial infections has been reported. Triggered immune responses are suggested to play a potential role ...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0609.2004.00248.x
更新日期:2004-07-01 00:00:00
abstract:OBJECTIVES:Detection of iron deficiency during pregnancy with hemoglobin (Hb) and serum measurements is insignificant as the measurements may be affected by e.g. hemodilution or accelerated erythropoiesis. This study tests whether cell indices will give a more reliable measure of iron deficiency in pregnant women at te...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2007.00964.x
更新日期:2007-12-01 00:00:00
abstract::15 cases of HCL were studied with a panel of monoclonal antibodies against different leukocyte antigens. A B-cell phenotype different from that of B-CLL was observed (CD10-, CD19+, CD20+, CD21-, CD22+, CD37+, CD38-, FMC7+, LN1+, PCA-1+, BLy7+ and CD5-). As expected, CD11c and CD25 were positive and, in addition, a My7...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00447.x
更新日期:1990-09-01 00:00:00
abstract::Host cells are protected from the lytic effect of the complement system by complement regulatory proteins. This study was designed to investigate the expression of complement regulatory proteins on leukemic blasts which may be susceptible to the lytic effects of the complement system in the circulation. The surface ex...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.80097.x
更新日期:2000-01-01 00:00:00
abstract::Recombinant human erythropoietin (rhEpo) is a mainstay in the treatment of anaemia, primarily in renal failure. Because the half-life of circulating rhEpo is relatively short (4-8 h), the drug is usually administered 2-3 times weekly. Recently, a novel erythropoiesis-stimulating protein (NESP) with a longer half-life ...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1034/j.1600-0609.2002.02813.x
更新日期:2002-11-01 00:00:00
abstract::Iron overload (IO) in the heart is a life-threatening complication in transfusion-dependent patients with thalassaemia major (TM) and to a lesser extent in sickle cell disease (SCD), while no data are available in patients with sickle/beta(0)-thalassaemia. Iron deposition in the heart, liver and pancreas was assessed ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01355.x
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVES:As hepcidin-25 is considered as a key regulator of human iron homoeostasis, this study aimed to compare this parameter with conventional biomarkers and diagnostic tools of iron deficiency (ID). METHODS:In total, 233 hospitalised adult patients, who underwent routine blood testing for ID, were included. All ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12523
更新日期:2015-12-01 00:00:00
abstract::Haemophilia remains a complex disorder to diagnose and manage, requiring close cooperation between multidisciplinary healthcare professionals. There are still many unmet challenges in haemophilia care. The first Team Haemophilia Education (THE) meeting, held on 7-8 May 2015 in Amsterdam, The Netherlands, aimed to prom...
journal_title:European journal of haematology
pub_type:
doi:10.1111/ejh.12760
更新日期:2016-07-01 00:00:00
abstract::T-cell lymphoma is an aggressive lymphoma that cannot be cured despite aggressive therapy, including autologous stem cell transplantation. Thalidomide is an immunomodulatory drug with numerous properties that has proven effective in relapsed multiple myeloma and, to a lesser extent, in other hematologic diseases. We r...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2004.00362.x
更新日期:2005-02-01 00:00:00
abstract::In addition to BCR, various rare fusion partners for the ABL1 gene have been reported in leukemia. We have identified the fusion gene SNX2-ABL1 in a pediatric case of acute lymphoblastic leukemia (ALL), which has only once previously been reported in an adult patient. Cytogenetic analysis detected this fusion gene ari...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12234
更新日期:2014-03-01 00:00:00
abstract:OBJECTIVES:The benefits of combined chelation therapy with daily deferiprone (DFP) and subcutaneous desferrioxamine (DFO) have been widely reported in literature. We retrospectively evaluated the efficacy of different schedules of combined chelation therapy and the incidence of adverse events. METHODS:We evaluated 36 ...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.2010.01447.x
更新日期:2010-07-01 00:00:00
abstract::Several plasma cells morphological changes have been described in monoclonal gammopathies, including intracytoplasmic crystals. We report one case of indolent kappa-chain multiple myeloma with renal insufficiency, featuring plasma cells with Auer-rod-like intracytoplasmic inclusions. The relationship between such aber...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2001.t01-1-00485.x
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVES:Internal tandem duplications (ITDs) of the fms-like tyrosine kinase 3 ( FLT3) gene occur in 13-35% of patients with acute myeloid leukemia (AML). FLT3-ITD is associated with poor clinical outcome and is an indication for allogeneic stem cell transplantation (allo-SCT). METHODS:To investigate FLT3-ITD length...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2012.01785.x
更新日期:2012-07-01 00:00:00