Abstract:
INTRODUCTION:Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. Most of our understanding of this disorder stems from molecular studies combined with extensive data input from international patient registries. OBJECTIVES:To create an overview of the pediatric DBA population in the Netherlands. METHODS:Forty-three patients diagnosed with DBA from all Dutch university pediatric hospitals were included in this study, and their clinical and genetic characteristics were collected from patient records. RESULTS:Congenital malformations were present in 24 of 43 patients (55.8%). An underlying genetic defect was identified in 26 of 43 patients (60.5%), the majority of which were found in the RPS19 gene (12 of 43, 27.9%) with 1 patient carrying a mutation in a novel DBA candidate gene, RPL9. In 31 of 35 (88.6%) patients, an initial response to glucocorticoid treatment was observed. Six patients (14.0%) underwent hematopoietic stem cell transplantation, and eleven patients (11 of 43, 25.6%) became treatment-independent spontaneously. CONCLUSION:In agreement with previous reports, the Dutch pediatric DBA population is both clinically and genetically heterogeneous. National and international registries, together with more extensive genetic testing, are crucial to increase our understanding of genotype and phenotype correlations of this intriguing disorder.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
van Dooijeweert B,van Ommen CH,Smiers FJ,Tamminga RYJ,Te Loo MW,Donker AE,Peters M,Granzen B,Gille HJJP,Bierings MB,MacInnes AW,Bartels Mdoi
10.1111/ejh.12995subject
Has Abstractpub_date
2018-02-01 00:00:00pages
163-170issue
2eissn
0902-4441issn
1600-0609journal_volume
100pub_type
杂志文章abstract::Forty-six consecutive patients with acute lymphoblastic leukaemia (ALL), having a median age of 23 years (range 14 to 64), underwent induction and consolidation chemotherapy with weekly parenteral vincristine, adriamycin, l-asparaginase and daily oral prednisone (VAAP), followed by standard central nervous system (CNS...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1600-0609.1992.tb00030.x
更新日期:1992-08-01 00:00:00
abstract::The hematopoietic capacity of bone marrow treated with 4-hydroperoxycyclophosphamide (4-HC) was studied using long-term suspension cultures. It was shown that, in the presence of a previously established marrow adherent cell layer (ACL), the 4-HC treated bone marrow, deprived of GM-CFC, generates GM-CFC in long-term s...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1987.tb00740.x
更新日期:1987-08-01 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::In whole blood from splenectomized subjects (n = 8) in a steady state an increased number of reticulocytes was observed (14.0 +/- 7.8% versus 3.6 +/- 2.4% controls: p less than 0.05). Cell fractionation on density showed that reticulocytes, as in normals, are more or less confined to the least dense fraction; cell fra...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb00872.x
更新日期:1988-07-01 00:00:00
abstract:OBJECTIVE:Hematological treatment decisions in older adults with hematological malignancies are complex. Our objective is to study the impact of a comprehensive geriatric assessment on hematological treatment decision in older patients and the factors associated with change in treatment plan. METHODS:We conducted a cr...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13570
更新日期:2020-12-19 00:00:00
abstract:BACKGROUND:The occurrence of a thrombotic event in congenital bleeding disorders has drawn considerable attention in recent years. Both patients with hemophilia and patients with von Willebrand disease and even those with rare coagulation disorders have been shown to present occasional thrombotic events. Little is know...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12129
更新日期:2013-08-01 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::We have studied the kinetics of plasma levels of circulating (c)selectins in 8 patients undergoing bone marrow or stem cell transplantation to gain estimates for the distribution and half-life of (c)selectins and to potentially identify an endothelial source of cP-selectin in patients who are deprived of platelets and...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.1998.tb01058.x
更新日期:1998-07-01 00:00:00
abstract:PURPOSE:To estimate the clinical significance of low serum concentrations of mannose-binding lectin (MBL) in patients with acute myeloid leukaemia (AML) during initial cancer chemotherapy. PATIENTS AND METHODS:80 consecutive, newly diagnosed, and unselected AML patients (age 18-77 yr) undergoing remission induction ch...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2003.00012.x
更新日期:2003-02-01 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::Although targeted therapies are used increasingly in hematologic malignancies, we are unaware of any prior studies of radioimmunotherapy (RAIT) in B-acute lymphoblastic leukemia (ALL), even though this radiosensitive tumor expresses CD22, potentially a good target for this approach. Here, we report a patient with Phil...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12183
更新日期:2013-12-01 00:00:00
abstract::10 patients with CLL and 2 with CML were treated with gradually increasing doses of 1 alpha(OH)D3, up to 4 micrograms daily during 6 wk. 3 patients with preleukemia and 1 with myelofibrosis were treated with 2 micrograms daily of 1 alpha(OH)D3 for a prolonged period up to 17 wk. The treatment with 1 alpha (OH)D3 did n...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1987.tb00160.x
更新日期:1987-07-01 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:OBJECTIVES:Combined high-dose Interferon-alpha and psoralen plus ultraviolet A irradiation (PUVA) have been reported to be effective in the treatment of early mycosis fungoides (MF); however, our study is the first controlled prospective study in the literature exploring the activity and tolerability of the combination...
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.1600-0609.2005.00497.x
更新日期:2005-08-01 00:00:00
abstract::Endothelial cell dysfunction is likely to be important in the pathophysiology of ischaemic heart disease and increased levels of endothelial cell markers soluble E-selectin and soluble thrombomodulin may reflect this damage. To determine whether increased levels of these markers were predictive of disease progression,...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1997.tb00735.x
更新日期:1997-08-01 00:00:00
abstract::Agranulocytosis developed in a 63-year-old patient with myelodysplasia 6 weeks after commencing treatment with the oral iron chelator deferiprone (L1, 1,2-dimethyl-3-hydroxypyrid-4-one, CP20) at a daily dose of 79 mg/kg. This was the 3rd case of agranulocytosis (neutrophils 0 x 10(9)/l) in clinical trials of L1 at the...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.1994.tb01323.x
更新日期:1994-11-01 00:00:00
abstract::Auto-immune haemolytic anaemia (AIHA) is characterised by haemolysis associated with the presence of the immunoglobulins IgG, IgM or IgA, and/or components of the complement system on the red cell membrane. The immunoglobulins react as auto-antibodies against the red cell antigens of the patient. IgG antibodies and th...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2003.02846.x
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVES:On the basis of two population-based registries, our study aims to calculate the real-world cost-effectiveness of rituximab maintenance compared with observation in relapsed or refractory follicular lymphoma patients who responded to second-line chemotherapy. METHODS:Data were obtained from the EORTC20981 t...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12264
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Aberrant DNA methylation at CpG islands within promoters is increasingly recognised as a common event in human cancers and has been associated with the silencing of important tumour suppressor genes. Epigenetic therapy using hypomethylating agents has demonstrated clinical effectiveness; the drugs azacitidin...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12145
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVE:Patients with hematologic malignancies are at substantial risk of developing invasive fungal infections (IFI) that are associated with substantial morbidity and mortality. This article reviews the epidemiology, risk factors, and efficacy of antifungal prophylaxis in patients with hematologic malignancies. ME...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0609.2006.00805.x
更新日期:2007-04-01 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::The molecular defects of the factor XIII A subunit gene were studied in a patient with factor XIII deficiency. Mutation analysis was performed on amplified DNA from each exon of this gene by single-strand conformation polymorphism (SSCP) and DNA sequencing techniques. A substitution of guanine by adenine at nucleotide...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.065004279.x
更新日期:2000-10-01 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::We report here the first case with Diamond-Blackfan anemia (DBA) who responded to rituximab. The patient is an 8-yr-old Japanese girl with refractory DBA accompanied by complex congenital heart disease. She received two doses of rituximab, 375 mg/m(2)/wk. She became transfusion independent 6 months after the treatment...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2004.00394.x
更新日期:2005-05-01 00:00:00
abstract::Infectious mononucleosis may occasionally be complicated by purpura, but the mechanism of the thrombocytopenia is not known in detail. In the present study, 3 children with mononucleosis-associated purpura were found to have marked elevations of platelet-associated immunoglobulins and circulating platelet binding IgG ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1989.tb01247.x
更新日期:1989-07-01 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::Forty-one patients with codon 17, A-T mutation of beta-thalassemia, which is commonly found in Thailand, were studied to determine whether it is possible to predict phenotypic severity from genetic factors. The clinical phenotype of homozygotes for codon 17, A-T and compound heterozygotes for codon 17, A-T and beta+-t...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2001.00305.x
更新日期:2001-02-01 00:00:00
abstract:BACKGROUND:Most results on the treatment of chronic myeloid leukaemia (CML) with imatinib were obtained from clinical trials that may differ from the routine practice. We report the results of treatment of consecutive patients with CML at ten major centres during 2000-2008. PATIENTS AND METHODS:Data reporting was retr...
journal_title:European journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1600-0609.2011.01637.x
更新日期:2011-08-01 00:00:00
abstract::Skin necrosis caused by heparins is a rare complication. We report a case of a 71-yr-old white woman who developed painful diffuse skin lesions, most probably related to enoxaparin treatment. Other causes of skin necrosis, including heparin induced thrombocytopenia, disseminated intravascular coagulation, protein C/pr...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2006.00668.x
更新日期:2006-08-01 00:00:00
abstract::Antigenic concentration of total kininogen, kinin liberated in vitro, and the antigenic concentration of high molecular weight (HMW) kininogen was measured in 58 different samples of cord blood plasma and in plasma samples from 67 healthy blood donors. Total kininogen and kinin concentration in cord blood plasma was m...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1991.tb01536.x
更新日期:1991-05-01 00:00:00