Abstract:
:We analyzed the genetic defects of 21 unrelated patients with venous thrombosis in whom hereditary protein C deficiency was diagnosed. Eleven mutations were detected in 18 families, while no mutation was detectable in the other three families. Among these mutations, a common genetic mutation of protein C (PROC) gene recurred in 43% (nine propositi from these 21 families). This C6152T mutation at exon 7 resulted in a missense mutation, Arg147Trp (R147W). Each propositus or family carrier had another specific polymorphism T66C at exon 2, which did not change the proline at position (-21). The haplotype analysis strongly suggested a founder effect. The first thrombotic attack was significantly younger in patients with multiple genetic defects or combined with other risk factors than those without precipitating factors. We further studied the prevalence rate of R147W mutations in normal populations through PCR amplification and dot hybridization. Three different cohorts got similar results. The prevalence rate of R147W in health controls is 0.85% [95% confidence interval (CI) 0.35-1.35]. Analysis of plasma protein C levels of all patients or carriers suggested that R147W was a type II deficiency. The odds ratio of thrombosis of R147W is 5.1 (95% CI 1.7-14.8). Taken together, R147W mutation is a significant thrombotic risk factor and is the most common defect of PROC gene in Taiwanese patients with protein C deficiency. This finding is important for screening thrombophilic families in Chinese populations.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Tsay W,Shen MCdoi
10.1002/ajh.20043keywords:
subject
Has Abstractpub_date
2004-05-01 00:00:00pages
8-13issue
1eissn
0361-8609issn
1096-8652journal_volume
76pub_type
杂志文章abstract::Four men were diagnosed with human immunodeficiency virus infection (AIDS) and autoimmune hemolytic anemia (HIV-AIHA) during the years 1997-2000 at Cook County Hospital, Chicago. All patients presented with the acute onset of severe hemolytic anemia, fever, and splenomegaly. The direct and indirect antiglobulin tests ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10096
更新日期:2002-06-01 00:00:00
abstract::Lymphomatoid granulomatosis (LG) is an uncommon but potentially fatal disease. The disease primarily involves the lungs; however, skin, renal, and central nervous system (CNS) are seen in varying proportions. Neurological involvement occurs in one third of the patients, and confers a worse prognosis. The use of radiot...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/(sici)1096-8652(199912)62:4<239::aid-ajh7>
更新日期:1999-12-01 00:00:00
abstract::In this study, we investigated the incidence and prognostic impact of monosomal karyotype (MK) in 405 higher-risk Myelodysplastic Syndromes (MDS) patients treated with 5-AZA. The MK was present in 66 out of 405 (16.3%) patients, most of whom had complex karyotype (CK). MK was strongly associated with CK and the cytoge...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25111
更新日期:2018-07-01 00:00:00
abstract::The aim of the study was to assess the efficacy and safety of rituximab (RTX) for treating systemic lupus erythematosus (SLE)-associated immune cytopenias. This multicenter retrospective cohort study of adults from French referral centers and networks for adult immune cytopenias and SLE involved patients ≥18 years old...
journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究
doi:10.1002/ajh.24999
更新日期:2018-03-01 00:00:00
abstract::We report the long-term follow-up results of a phase II trial of thalidomide for early-stage multiple myeloma (MM). Patients were eligible if they had smoldering multiple myeloma (SMM) or indolent MM without the need for immediate therapy. Thalidomide was initiated at a dose of 200 mg/day and adjusted as tolerated. Di...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1002/ajh.21821
更新日期:2010-10-01 00:00:00
abstract::Clinical management of lymphoplasmacytic lymphoma (LPL)/Waldenström macroglobulinemia (WM) has changed considerably over recent years, reflected in the use of new therapeutic agents (purine analogs, monoclonal antibodies, thalidomide- and bortezomib-based therapies). No population-based studies and few randomized tria...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23351
更新日期:2013-01-01 00:00:00
abstract::We studied the prognostic value of parameters of angiogenesis on bone marrow biopsies in newly diagnosed multiple myeloma (MM) patients. Angiogenesis parameters studied were the microvessel count done manually on light microscopy (MVD-A), microvessel count done by using computerized image analyzer (MVD-B), and total v...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20639
更新日期:2006-09-01 00:00:00
abstract::Immunologic studies were performed on mononuclear cells from ten chronically transfused children with sickle cell disease, and the results were compared with those from five other groups: 21 sickle cell patients who were not receiving regular transfusions, 6 chronically transfused children with other forms of refracto...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830200106
更新日期:1985-09-01 00:00:00
abstract::Argatroban is a direct thrombin inhibitor approved for the treatment of heparin-induced thrombocytopenia (HIT) type II. Argatroban is predominantly metabolized in the liver. It is widely believed that no dosage adjustment is required in patients with renal insufficiency, making it a preferred agent in patients on rena...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21072
更新日期:2008-03-01 00:00:00
abstract::A 77-year-old man with relapsed non-Hodgkin's lymphoma, diffuse large B-cell type, was treated with naproxen, a nonsteroidal anti-inflammatory drug (NSAID), for paraneoplastic fever. A dramatic disappearance of not only the fever but also generalized lymphadenopathy was observed. Naproxen was continued, and he maintai...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/1096-8652(200103)66:3<220::aid-ajh1048>3.0
更新日期:2001-03-01 00:00:00
abstract::Because of the T-cell abnormalities observed in Hodgkin's disease and the growing number of Hodgkin's disease cases observed in association with the acquired immunodeficiency syndrome (AIDS), concern has been expressed that a retrovirus may be the primary cause of Hodgkin's disease. We examined plasma specimens from 1...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830270104
更新日期:1988-01-01 00:00:00
abstract::A family is described in which venous thromboembolic disease is associated with reduced plasma protein C activity and normal levels of protein C antigen. Immunoelectrophoretic analysis of protein C antigen gave an abnormal pattern in all affected members, suggesting that the disorder is related to the presence of a st...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830290410
更新日期:1988-12-01 00:00:00
abstract::"PVP storage disease" is a disorder occurring in patients who have received high molecular weight polyvinylpyrrolidone (PVP), which cannot be excreted from the body. These large polymers deposit in the histiocytes and cause proliferation and infiltration of histiocytes in the reticuloendothelial system. There was usua...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199801)57:1<68::aid-ajh12>
更新日期:1998-01-01 00:00:00
abstract::The binding of anti-human platelet glycoprotein (GP) IIbIIIa monoclonal antibodies to human umbilical vein endothelial cells (HUVE) was studied. Scatchard analysis using 125I-anti-platelet GPIIb-IIIa monoclonal antibody showed that the maximum binding capacity (B max) was 8 X 10(4)/cell and Kd was 40.2 nM. The binding...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830250113
更新日期:1987-05-01 00:00:00
abstract::In acute myeloid leukemia (AML), new prognostic tools are needed to assess the risk of relapse. Hematogones (HGs) are normal B-lymphocyte precursors that increase in hematological diseases and may influence remission duration in AML. HG detection was prospectively investigated in 262 AML patients to determine its prog...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24350
更新日期:2016-06-01 00:00:00
abstract::While systemic plasma endothelin-1 (ET-1) levels are increased during acute crisis in sickle cell disease, the relative levels of potent vasoactive factors that contribute to the regulation of vascular function, such as ET-1, NO, and cell-free hemoglobin, during the course of periodic vaso-occlusive episodes remain un...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20107
更新日期:2004-07-01 00:00:00
abstract::Aplastic anemia is a disorder characterized by pancytopenia and bone marrow hypocellularity. There is some evidence that aplastic anemia may be due to suppression of hematopoiesis by activated T-suppressor cells. Thus, immunosuppressive agents have been used as an alternative to bone marrow transplantation for treatme...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(SICI)1096-8652(199606)52:2<108::AID-AJH7>
更新日期:1996-06-01 00:00:00
abstract:DISEASE OVERVIEW:Chronic neutrophilic leukemia (CNL) is a rare, often aggressive myeloproliferative neoplasm (MPN) defined by persistent mature neutrophilic leukocytosis, bone marrow granulocyte hyperplasia, and frequent hepatosplenomegaly. The seminal discovery of oncogenic driver mutations in colony-stimulating facto...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.25688
更新日期:2020-02-01 00:00:00
abstract::During the 5-year period from 1981 to 1985, we have observed 8 cases of acquired immunodeficiency syndrome (AIDS) among our 85 patients with hemophilia A. Thus, the prevalence of AIDS with hemophilia A is 9.4% in our patient population. By utilizing stored serum or plasma samples dating back to 1978, antibody against ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830240208
更新日期:1987-02-01 00:00:00
abstract::Seven normal human peripheral blood cell fractions (buffy coat, mononuclear cells, non-T, T, Fc-IgM receptor-depleted T-lymphocyte, Fc-IgG receptor-depleted T-lymphocyte, and autologous rosette-forming T-cell-depleted T-lymphocyte subpopulations) treated with phytohemagglutinin (PHA) were examined for the production o...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830200306
更新日期:1985-11-01 00:00:00
abstract::In this study, we further established the role of interleukin-1 alpha (IL-1 alpha), interleukin-1 beta, tumor necrosis factor-alpha (TNF-alpha), and interferon-alpha (IFN-alpha) as regulators of proliferation of acute myeloid leukemia (AML) cells. AML cells from 8 of 15 patients incorporated high levels of 3H-thymidin...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830400402
更新日期:1992-08-01 00:00:00
abstract::Relapsed or refractory acute myeloid leukemia (R/R AML) has a poor prognosis and is best treated with salvage chemotherapy as a bridge to allogeneic stem cell transplant (alloSCT). However, the optimal salvage therapy remains unknown. Here we compared two salvage regimens; mitoxantrone, etoposide, and cytarabine (MEC)...
journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究
doi:10.1002/ajh.25838
更新日期:2020-08-01 00:00:00
abstract::We present two patients with human immunodeficiency virus-1 (HIV-1) infection in whom T-cell non-Hodgkin lymphoma developed, based on pathologic diagnosis, immunophenotyping, and T-cell receptor gene rearrangement. Both cases were positive for human immunodeficiency virus-1 by enzyme-linked immunosorbent assay and imm...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830310307
更新日期:1989-07-01 00:00:00
abstract::We examined inter- and intraobserver reproducibility and concordance between histological diagnosis and independently collected clinical findings in a large series of patients with the major subtypes of myeloproliferative neoplasms (MPNs) and controls. Seven hematopathologists reviewed 272 bone marrow biopsies includi...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23554
更新日期:2013-12-01 00:00:00
abstract::The human spleen normally retains about one-third of the body's platelets in an exchangeable pool which can be released into the circulation by alpha-adrenergic stimulation. Some previous investigators concluded that the splenic platelet population was enriched in a subpopulation of large, young, dense platelets (mega...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830340302
更新日期:1990-07-01 00:00:00
abstract::A minority of super-utilizing adults with sickle cell disease (SCD) account for a disproportionate number of emergency department (ED) and hospital admissions. We performed a retrospective cohort study comparing the rate of admission before and after the opening of a clinic for adults with SCD. Unique to this clinic w...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23912
更新日期:2015-03-01 00:00:00
abstract::The standard dose of clofarabine is 52 mg/m2 for pediatrics and 40 mg/m2 in adults. Clofarabine dosed at 52 mg/m2 was used in adult patients with refractory ALL to maximize response before allo-HSCT. All patients had a significant response to therapy. Published pharmacokinetic analysis revealed no difference in peak p...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
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更新日期:2009-04-01 00:00:00
abstract::We report a case of T-cell chronic lymphoproliferative disorder (CLPD) that shows neither features of T-cell prolymphocytic leukemia nor disease progression for more than 34 months. Flow cytometric analyses of the lymphocytes revealed high expression of CD4 and CD25. Up-regulation of Foxp3, a master regulatory gene fo...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20688
更新日期:2006-09-01 00:00:00
abstract::The effect of several iron chelators on iron uptake and release by mouse peritoneal macrophages has been investigated. The 1,2-dimethyl (L1) and 1-ethyl-2-methyl (L1NEt) derivatives of 3-hydroxypyrid-4-one markedly enhanced iron mobilisation from macrophages pulsed with 59Fe-transferrin-antitransferrin immune complexe...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830340106
更新日期:1990-05-01 00:00:00
abstract::New treatments have transformed multiple myeloma into a chronic disease. Hence, optimal management of treatment and disease-related complications remains a critical component of survivorship care. Survivorship care model in cancers requiring a fixed-duration therapy may not be applicable to myeloma, since patients are...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.25764
更新日期:2020-06-01 00:00:00