Abstract:
:An analysis was conducted in four members of the same family, two of whom had a history of severe bleeding associated with type 2B von Willebrand's disease (VWD) which, although found to be due to the same mutation, nevertheless exhibited different phenotype patterns in the two subjects involved. Von Willebrand's factor (VWF) multimers were assayed with high- and low-resolution sodium dodecyl sulfate (SDS) agarose gels. The patients were studied before and after intravenous administration of desmopressin (DDAVP) at doses of 0.4 microg/kg body weight. Automatic sequencing techniques were used to analyze VWF gene exon 28. The propositus presented with mild basal thrombocytopenia with ristocetin-induced platelet aggregation (RIPA) at low concentrations of ristocetin. He had a very prolonged bleeding time (BT), and his plasma VWF was found to be lacking in large and intermediate multimers. Thrombocytopenia was observed to intensify transiently after the administration of DDAVP. The propositus' mother, in contrast, presented reduced RIPA while in a basal state, with only partial loss of the high molecular weight VWF multimers. Although she had a very prolonged BT, her platelet count was borderline. Transient correction of BT and a decrease in the platelet count were observed after administration of DDAVP and RIPA was observed at low concentrations of ristocetin. Exon 28 sequencing revealed a G4196A-->Val1316Met mutation in both patients. No other abnormality was detected within this exon. Val1316Met has been reported in type 2B VWD. In conclusion, in the family presented here, the phenotype pattern in one patient was typical of type 2B VWD, whereas the pattern in his mother was closer to type 2A VWD. After administration of DDAVP, however, a type 2B phenotype could be clearly attributed to both, indicating that this drug can be a useful tool for elucidating ambiguous phenotypes.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Rendal E,Penas N,Larrabeiti B,Pérez A,Vale A,López-Fernández MF,Batlle Jdoi
10.1007/s002770100303subject
Has Abstractpub_date
2001-06-01 00:00:00pages
354-60issue
6eissn
0939-5555issn
1432-0584journal_volume
80pub_type
杂志文章abstract::Venous thromboembolism (VTE) is a well-recognized complication in pediatric oncology patients. Studies in adult oncology patients have suggested a potential negative association between VTE and survival, but this association has not been examined in pediatric patients yet. The aim of this study was to assess the assoc...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
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abstract::Indolent primary cutaneous B cell lymphomas (PCBCL) generally have a good prognosis, but they often relapse leading in some cases to extracutaneous disease and therefore, to poor survival. We developed a prognostic model to improve the therapeutic approach to these lymphomas. Two hundred and seventeen patients with di...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-010-1083-1
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abstract::The benefits of intensive post-remission chemotherapy have not been verified in elderly patients with acute myeloid leukemia (AML). To reduce fatal complications caused by intensive post-remission therapy, we performed a prospective phase II multicenter trial of standard induction chemotherapy ('7+3' of cytarabine plu...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-006-0110-8
更新日期:2006-06-01 00:00:00
abstract::Iron deficiency anemia is among the most frequent causes of disability. Intravenous iron is the quickest way to correct iron deficiency, bypassing the bottleneck of iron intestinal absorption, the only true mechanism of iron balance regulation in human body. Intravenous iron administration is suggested in patients who...
journal_title:Annals of hematology
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doi:10.1007/s00277-020-04361-3
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abstract::Hydroxyurea is increasingly being used to control myeloproliferative disorders, in part because of its relative lack of side effects. We present a case of life-threatening alveolitis in a patient treated with hydroxyurea for myeloproliferative syndrome. Absence of exposure to other drugs and the clinical course sugges...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01701737
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abstract::Despite high-dose chemotherapy and autografting, the outcome for patients with primary refractory Hodgkin's disease (HD) or multiple relapses remains unsatisfactory. Six pediatric patients (median age: 16 years, range: 11-19) received reduced intensity conditioning and allogeneic peripheral blood stem cell transplanta...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-003-0814-y
更新日期:2004-04-01 00:00:00
abstract::Expression of long non-coding RNA KIAA0125 has been incorporated in various gene expression signatures for prognostic prediction in acute myeloid leukemia (AML) patients, yet its functions and clinical significance remain unclear. This study aimed to investigate the clinical and biological characteristics of AML beari...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-020-04358-y
更新日期:2021-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-019-03746-3
更新日期:2019-09-01 00:00:00
abstract::A 72-year-old-man with night sweats and a low-grade fever was found to have bilateral adrenal enlargement associated with incipient adrenal insufficiency. Without any intervention, these adrenal lesions regressed spontaneously, accompanied by disappearance of clinical symptoms. Seven months later, however, the lesions...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770100335
更新日期:2001-09-01 00:00:00
abstract::Haemoglobinopathies are the world's most frequently found monogenic disorders. In the cases with high oxygen affinity, the decrease in the liberation of the oxygen determines a secondary erythrocytosis. In this work, we present 17 unrelated families of Caucasian race and of Spanish origin, with ten variants of haemogl...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-008-0581-x
更新日期:2009-03-01 00:00:00
abstract::The introduction of rituximab into the primary treatment of malignant lymphomas of the B cell lineage has had a major impact on the management of these diseases. In addition, prolonged exposure to rituximab as maintenance therapy has been beneficial in patients with follicular lymphoma and mantle cell lymphoma. For th...
journal_title:Annals of hematology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00277-008-0560-2
更新日期:2009-01-01 00:00:00
abstract::Thirty-four patients with acute myeloid leukemia (AML) in complete remission (CR), 30 of them aged over 60, received maintenance therapy scheduling four courses of low-dose cytarabine (LDA) 20 mg/m2/day in two subcutaneous injections for 3 weeks every 6 weeks. Each course was stopped when hematologic toxicity occurred...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/BF01698132
更新日期:1992-08-01 00:00:00
abstract::Autoantibody against erythrocytes has occasionally been observed in patients with de novo acute myelocytic leukemia (AML). However, it is not clear whether this autoantibody in AML patients induces frank hemolysis (autoimmune hemolytic anemia, AIHA), as seen in lymphoid neoplasms. We present two de novo AML patients w...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF00663016
更新日期:1996-01-01 00:00:00
abstract::We have studied the effects of recombinant human thrombopoietin (TPO, mpl ligand) on the megakaryocyte colony formation from control human bone marrow cells, human leukemia cells at diagnosis, and human bone marrow cells after induction chemotherapy for acute leukemias. In the control human bone marrow cells from four...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050408
更新日期:1998-07-01 00:00:00
abstract::To evaluate the outcomes of refractory/relapsed cHL patients after high-dose chemotherapy (HDCT) and autologous stem cell transplantation (ASCT) in Beijing Cancer hospital and to identify the prognostic risk factors. We retrospectively analyzed 115 relapsed/refractory cHL patients who accepted HDCT and ASCT in our can...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-019-03812-w
更新日期:2020-03-01 00:00:00
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00277-020-03983-x
更新日期:2020-05-01 00:00:00
abstract::The severity of thalassemia is currently classified based on clinical manifestations and multiple tests. In the present study, we performed a plasma proteome analysis to identify differentially expressed proteins compared between normal subjects and patients with mild and severe forms of β-thalassemia/hemoglobin E (Hb...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-012-1629-5
更新日期:2013-03-01 00:00:00
abstract::Establishing reference ranges by multiparametric immunophenotyping of mature B cells in bone marrow of healthy adults is of interest because the detection of bone marrow infiltration and persistence of light chain restriction, as well as discrimination between reactive and malignant lymphocytes are important applicati...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01702647
更新日期:1995-09-01 00:00:00
abstract::A case of congenital leukemia with monosomy 7 is reported. Immunological study of the blast cells using monoclonal antibodies was suggestive of both myelomegakaryocytic and T-lymphoblastic leukemia. Chromosomal analysis of the bone marrow cells showed monosomy 7. Chemotherapy was initiated with a combination of adriam...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01836073
更新日期:1992-12-01 00:00:00
abstract::There is increasing evidence for the role of chronic antigenic stimulation (CS) in the development of cancer. Clinical data, however, are rare as is the information on outcome. In this study, the occurrence of chronic infections (CI) and autoimmune diseases (AI) in patients with malignant lymphoma at diagnosis was ass...
journal_title:Annals of hematology
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abstract::In contrast to adult medicine, specific scoring systems predicting the treatment response for an individual pediatric patient (pt) with chronic myeloid leukemia (CML) have not yet been defined. We evaluated to what extend prognostic scores as described for adults (e.g., Sokal, Hasford, EUTOS score) resulted in compara...
journal_title:Annals of hematology
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doi:10.1007/s00277-015-2367-2
更新日期:2015-08-01 00:00:00
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-019-03831-7
更新日期:2019-12-01 00:00:00
abstract::Interferon alpha (IFN) inhibits the growth of the abnormal clone in patients with myeloproliferative disorders, leading to a reduction of the clinical and laboratory signs of the pathologic myeloproliferation. The therapeutic efficacy of IFN in polycythemia vera (PV) is demonstrated by the summarized treatment results...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s002770050563
更新日期:2000-03-01 00:00:00
abstract::To investigate whether cytokine genetic polymorphisms influence the outcome of diffuse large B cell lymphoma (DLBCL), we tested 337 consecutive DLBCL treated with CHOP or rituximab-CHOP (R-CHOP) from interleukin 10 (IL10), Bcl-2, and tumor necrosis factor (TNF)-α polymorphisms. Patients who carried the IL10 rs1800871 ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-016-2857-x
更新日期:2017-02-01 00:00:00
abstract::High-count monoclonal B cell lymphocytosis (MBL) with a chronic lymphocytic leukemia (CLL) phenotype is a well-known entity, featuring 1-4% annual risk of progression towards CLL requiring treatment. Lymphoma-like MBL (L-MBL), on the other hand, remains poorly defined and data regarding outcome are lacking. We retrosp...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-018-3282-0
更新日期:2018-07-01 00:00:00
abstract::In some instances, because of the lack of mass formation and the absence of prominent lymph node enlargement, diagnosis of lymphoma-associated hemophagocytic syndrome (LAHS) is difficult, which results in the development of progressive disease with unfavorable prognosis. Therefore, in the diagnosis of secondary hemoph...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-011-1239-7
更新日期:2012-01-01 00:00:00
abstract::We analyzed the prognostic factors for a successful mobilization and peripheral blood stem cell collection in a series of 57 consecutive patients with multiple myeloma (MM); a new scoring system to predict an adequate mobilization in this subset of patients was also constructed. A total of 221 aphereses were performed...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770100351
更新日期:2001-10-01 00:00:00
abstract::A 24-year-old woman with a large cell anaplastic CD 30-positive T-cell non-Hodgkin's lymphoma (NHL) developed downbeat nystagmus, anisocoria, and oscillopsia. Prior to overt cerebral invasion by NHL, she had a thiamine deficiency with very low thiamine concentrations in the CSF, probably caused by protracted vomiting ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050484
更新日期:1999-02-01 00:00:00
abstract::Second-generation azoles may be more effective than first-generation azoles in the prevention of fungal infections in hematology patients. We performed a systematic review with meta-analysis of randomized controlled trials comparing second- with first-generation azoles in hematology patients with respect to proven or ...
journal_title:Annals of hematology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00277-013-1693-5
更新日期:2013-06-01 00:00:00
abstract::The BCR/ABL1 fusion gene is mainly caused by the t(9; 22)(q34; q11.2) translocation, which results in the Philadelphia (Ph) chromosome. The Ph chromosome is the typical hallmark in chronic myeloid leukemia (CML), but can also be present in acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). The BCR/AB...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-001-0424-5
更新日期:2002-03-01 00:00:00