Abstract:
:Decreased von Willebrand factor (VWF)-cleaving protease activity (<5%) has been implicated in patients with congenital thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (Upshaw-Schulman syndrome) and associated with mutations within the ADAMTS13 gene. In this report, we describe longitudinal studies in a patient with congenital TTP who ultimately developed end-stage renal failure and required plasma therapy from infancy. The patient was deficient in plasma high molecular weight (HMW)-VWF multimers during acute disease but had increased amounts of the HMW-VWF multimers during periods of remission. DNA analysis of this patient detected homozygosity for the R692C mutation on exon 17 of the ADAMTS13 gene, previously linked to congenital TTP. The level of VWF-cleaving protease activity in the patient was remarkably low (<5%) throughout her disease, even after she entered complete remission. However, despite no improvement in the level of VWF-cleaving protease activity, this patient had complete resolution of disease following splenectomy and commencing hemodialysis, without need for ongoing plasma therapy. The patient has remained in remission for over 4 years. These observations suggest that there are other factors in conjunction with severe deficiency of VWF protease activity that participate in the platelet-mediated thrombotic complications and other disease manifestations of congenital TTP. In addition, it is possible that splenectomy could be an effective treatment option for some patients with severe, congenital TTP.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Snider CE,Moore JC,Warkentin TE,Finch CN,Hayward CP,Kelton JGdoi
10.1002/ajh.20221keywords:
subject
Has Abstractpub_date
2004-12-01 00:00:00pages
387-90issue
4eissn
0361-8609issn
1096-8652journal_volume
77pub_type
杂志文章abstract::Quantification of sickle hemoglobin (HbS) in patients with sickle cell disease (SCD) undergoing hydroxyurea or chronic transfusion therapy is essential to monitoring the effectiveness of these therapies. The clinical monitoring of %HbS using conventional laboratory methods is limited by high per-test costs and long tu...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23980
更新日期:2015-06-01 00:00:00
abstract:OBJECTIVE:To assess the efficacy of intravenous immunoglobulin (IVIG), in comparison with plasma exchange (PE), in the treatment of patients with thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). DESIGN:Prospective, nonrandomized comparative study. SETTING:Hematology department in a general hos...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830410305
更新日期:1992-11-01 00:00:00
abstract::A 56-year-old man was admitted to our hospital with leukocytosis, anemia, and thrombocytopenia. Acute monoblastic leukemia was diagnosed. Two subsequent courses of consolidation chemotherapy consisted of conventional doses of cytarabine and intermediate-dose cytarabine. Intermediate-dose cytarabine was infused intrave...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20772
更新日期:2007-04-01 00:00:00
abstract::Human T-cell leukemia virus (HTLV-I) is known to be associated with certain hematologic malignancies, and a related virus, HTLV-III/LAV, might be the cause of AIDS. Some persons with AIDS have had evidence of HTLV-I infection. Unrelated to these findings, it has been suggested that HTLV-I is transmitted via blood prod...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830200205
更新日期:1985-10-01 00:00:00
abstract::Hereditary spherocytosis (HS) is due to different membrane protein defects (i.e., deficiency of spectrin and ankyrin, band 3, or band 4.2). In order to gain new insight into the relationships between band 3 function and proteins associated with the cytoskeleton, we studied erythrocyte anion transport activity in HS ch...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199707)55:3<121::aid-ajh1>
更新日期:1997-07-01 00:00:00
abstract::Acute myeloid leukemia (AML) with mutated NPM1 is a newly recognized separate entity in the revised 2016 WHO classification, and is associated with a favorable prognosis. While previous studies have evaluated NPM1 in a binary fashion, we recently demonstrated a significant independent negative prognostic effect of hig...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25544
更新日期:2019-08-01 00:00:00
abstract::A case of a leukemic transformation following a 27-year history of idiopathic myelofibrosis (IMF) is presented. The patient had two chromosomal abnormalities: a deletion of chromosome 13, del 13(q12q14), and a deletion of chromosome 11, del 11(q14q23). This patient's final diagnosis was acute micromegakaryocytic leuke...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20254
更新日期:2005-01-01 00:00:00
abstract::A 77-year-old caucasian man presented on March 2005 with important epigastric pain without any other significant history of gastritis. Patient refers a history of cutaneous Kaposi's sarcoma (KS) treated since 1974 with surgical excision or oncovorin topical injection. He underwent endoscopic evaluation showing a 1.5-c...
journal_title:American journal of hematology
pub_type: 信件
doi:10.1002/ajh.21802
更新日期:2010-10-01 00:00:00
abstract::Defective fibrinolysis due to decreased tissue-type plasminogen activator (t-PA) activity is a well-established finding in patients with systemic lupus erythematosus (SLE). The possibility that this decrease in t-PA activity may be related to the presence of autoantibodies directed against t-PA, and the possible role ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830490203
更新日期:1995-06-01 00:00:00
abstract::The incidence of drug-induced neutropenia has not changed in the western hemisphere over the last 30 years. Yet, the drug panorama has changed considerably. This implies that host factors may play an intriguing role for this idiosyncratic reaction. The knowledge as to mechanisms for the reaction has advanced with emer...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.21433
更新日期:2009-07-01 00:00:00
abstract::High-density lipoprotein (HDL) of 100-400 micrograms/ml did not prevent morphological alterations of human blood platelets treated with serotonin (1-5 microM). Highly concentrated HDL (1,200 micrograms/ml) appeared to activate platelets in vitro. These findings indicate that whole HDL may not inhibit agonist-induced p...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830500417
更新日期:1995-12-01 00:00:00
abstract::Evaluation of pharmacologic agents that stimulate fetal hemoglobin production has been done mainly in baboons and macaques. We investigated whether results in transgenic mice can predict the stimulation of fetal hemoglobin in primates, by testing gamma globin induction in response to a new ribonucleotide reductase inh...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830450208
更新日期:1994-02-01 00:00:00
abstract::Red cell ferritin was evaluated in 101 individuals with heterozygous beta-thalassemia to determine its clinical utility as an index for iron deficiency or overload in these subjects. The mean red cell ferritin for the total population was elevated threefold and showed a significant correlation with transferrin saturat...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830300403
更新日期:1989-04-01 00:00:00
abstract::Antithymocyte globulins (ATG) plus cyclosporine (CSA) is the gold standard immunosuppressive treatment (IST) for patients with aplastic anemia. A prospective randomized trial showed in 2011 that hATG was superior to rabbit ATG for first-line treatment of severe AA. The French Health Agency (ANSM) permitted a patient-n...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25050
更新日期:2018-05-01 00:00:00
abstract::The clinical features of patients with splenic marginal zone cell lymphoma (SMZCL) have rarely been reported. In the present study, immunological abnormalities, particularly hematological abnormalities, observed in SMZCL were described. Autoimmune hemolytic anemia, immune thrombocytopenia, and appearance of lupus anti...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/(sici)1096-8652(199711)56:3<173::aid-ajh7>
更新日期:1997-11-01 00:00:00
abstract::Venous thromboembolism (VTE) is a common cause of morbidity and mortality among patients with multiple myeloma (MM). The International Myeloma Working Group (IMWG) developed guidelines recommending primary thromboprophylaxis, in those identified at high-risk of VTE by the presence of risk factors. The National Compreh...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25603
更新日期:2019-11-01 00:00:00
abstract::Measurements of the iron regulatory hormone hepcidin by various methodologies and laboratories are not harmonized. As a result different numeric results are obtained for the same clinical sample. We investigated whether better agreement between plasma hepcidin methods can be achieved by harmonization. Native plasma po...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23289
更新日期:2012-10-01 00:00:00
abstract::Hairy cell leukemia is a chronic lymphoproliferative disorder characterized clinically by splenomegaly and cytopenias. Spontaneous remissions are rare and splenectomy is often performed when the blood counts worsen and cause symptoms. Three of our patients with hairy cell leukemia developed recurrent pancytopenia and ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830250307
更新日期:1987-07-01 00:00:00
abstract::ASXL1 and SRSF2 mutations in AML are frequently found in patients with preexisting myeloid malignancies and are individually associated with poor outcomes. In this multi-institutional retrospective analysis, we assessed the genetic features and clinical outcomes of 43 patients with ASXL1mut SRSF2mut AML and compared o...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.26110
更新日期:2021-01-27 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::The presence of teardrop-shaped red cells in peripheral blood has traditionally been felt to reflect altered marrow architecture, namely myelofibrosis. We evaluated two patients with splenomegaly, moderately severe hemolytic anemia due to warm-reactive IgG anti-red cell autoantibody, and bone marrow erythroid hyperpla...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830210410
更新日期:1986-04-01 00:00:00
abstract::Human theta (theta 1)-globin gene represents a member of the alpha-like globin gene family residing on chromosome 16. theta 1-Specific transcripts have been detected so far only in erythroid tissues and in erythroleukemia K562 cells. To investigate systematically its inducible expression and developmental specificity,...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830350406
更新日期:1990-12-01 00:00:00
abstract::Induction of carbonic anhydrase isozyme I (CA-I) by erythropoietin or hemin was investigated using erythroleukemia (K562) cells. Immunological estimation and purification of carbonic anhydrases showed that untreated K562 cells contained only carbonic anhydrase isozyme II(CA-II), while incubation of the cells with 2 un...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830380309
更新日期:1991-11-01 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::Severe chronic neutropenia (SCN) is defined as an absolute neutrophil (ANC) of less than 0.5 x 10(9)/L, lasting for months or years. Congenital, cyclic, and idiopathic neutropenia are principal categories of SCN. Since 1994, the Severe Chronic Neutropenia International Registry (SCNIR) has collected data to monitor th...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.10255
更新日期:2003-02-01 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::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::We present a case of acquired von Willebrand syndrome (AVWS) due to a monoclonal gammopathy of undetermined significance. Initially this case was diagnosed as congenital von Willebrand disease (VWD); however, re-examination of the medical history rendered a congenital bleeding disorder unlikely. A normal plasma von Wi...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20760
更新日期:2007-01-01 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::Four factor XI (F XI)-deficient patients are described, all of whom formed circulating anticoagulants against F X1. In the three most severely affected patients (F XI 0%-6% activity), the anticoagulant appeared to have been stimulated by plasma infusion. However, in the milder case (25% F XI activity), no infusion had...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830260405
更新日期:1987-12-01 00:00:00