Abstract:
:An inherited antithrombin deficiency is an autosomal dominant thrombotic disorder. We identified two pedigrees of inherited type I antithrombin deficiency and two responsible mutations in each. A novel 21-22delAA appeared to have caused a frameshift with a premature termination at amino acid +63 in one patient and a large deletion including all seven exons was identified by multiplex ligation-dependent probe amplification in the other. Some asymptomatic relatives of the second patient had the same mutation. The present findings support the value of using more than one method of gene analysis and of studying the families of probands with inherited thrombotic disorders.
journal_name
Int J Hematoljournal_title
International journal of hematologyauthors
Sekiya A,Morishita E,Karato M,Maruyama K,Shimogawara I,Omote M,Wakugawa Y,Shinohara M,Hayashi T,Kadohira Y,Asakura H,Nakao S,Ohtake Sdoi
10.1007/s12185-010-0763-xsubject
Has Abstractpub_date
2011-02-01 00:00:00pages
216-219issue
2eissn
0925-5710issn
1865-3774pii
10.1007/s12185-010-0763-xjournal_volume
93pub_type
杂志文章abstract::To assess response to cyclosporine A, and/or corticosteroids, and possible factors influencing the response in adult patients with acquired pure red cell aplasia (PRCA). Clinical data from 42 cases were retrospectively analyzed. These patients received cyclosporine A (CsA), and/or corticosteroids (CS), or other immuno...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-018-2446-y
更新日期:2018-08-01 00:00:00
abstract::Inherited antithrombin deficiency, an established risk factor for venous thromboembolism (VTE), can be classified into type I (quantitative deficiency) or type II (qualitative deficiency). In the present study, we assessed the VTE risk associated with the phenotypes of antithrombin deficiency in patients admitted to o...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0687-5
更新日期:2010-10-01 00:00:00
abstract::The rare recurrent translocation of (8;9)(p22;p24) with PCM1-JAK2 fusion was recently characterized in diverse hematological malignancies. Most of them are atypical chronic myeloid leukemia (CML) or other myeloproliferative disorders (MPD), and are predominantly in the male. We report a female patient with acute myelo...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-008-0113-4
更新日期:2008-09-01 00:00:00
abstract::Antibodies represent a unique class of therapeutics because of their high specificity toward a defined target antigen. Recent clinical success with antibody-based cancer therapeutics has led to an upsurge in the development of these agents. Antibodies directed against FLT3 represent a promising approach for the treatm...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1532/IJH97.05068
更新日期:2005-08-01 00:00:00
abstract::Immunoglobulin light chain (AL) amyloidosis is a systemic disorder caused by depositions of insoluble amyloid fibrils that are composed of fragments of monoclonal light chains produced by abnormal plasma cells. The prognosis is reported to be poor; median survival time (MST) is 1-2 years overall, and is 6 months in pa...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-015-1814-0
更新日期:2015-08-01 00:00:00
abstract::Clonality analysis utilizing X-chromosome inactivation has been used in the study of various diseases, including hematological malignancies. The human androgen receptor gene (HUMARA) assay is the newest of such methods, and the majority of the female population can be assessed by this relatively simple procedure. One ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1999-06-01 00:00:00
abstract::Fas stimulation has been reported to promote the activation and proliferation of T lymphocytes, but the intracellular signalling pathways that mediate non-apoptotic responses to Fas are poorly defined. To distinguish between the activation signalling and the death-inducing pathway downstream of Fas, we generated a nov...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0637-2
更新日期:2010-09-01 00:00:00
abstract::Acute graft-versus-host disease (aGVHD) is the major cause of non-relapse mortality following allogeneic hematopoietic stem cell transplantation. To date, there are no consensus specific plasma biomarkers for aGVHD. We recently identified several candidates differentially expressed in aGVHD patients. Here, we have val...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-012-1076-z
更新日期:2012-06-01 00:00:00
abstract::We report our experience with allogeneic peripheral blood stem cell transplantation (allo-PBSCT) following a nonmyeloablative conditioning regimen consisting of cytarabine (8 g/m2) and cyclophosphamide (120 mg/kg) in the treatment of 2 patients aged 50 and 55 years with refractory chronic myelomonocytic leukemia and c...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract::MicroRNAs (miRNAs) are a class of small non-coding RNAs approximately 18-22 nucleotides in length, which play an important role in malignant transformation. The roles of miR-192 as an oncogene or tumor suppressor in solid tumors have been previously reported. However, little is known about the role of miR-192 in human...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-017-2232-2
更新日期:2017-08-01 00:00:00
abstract::In addition to reduced-intensity conditioning, which has expanded the eligibility for hematopoietic cell transplantation (HCT) to older patients, increased availability of alternative donors, including HLA-mismatched unrelated donors, has increased access to allogeneic HCT for more patients. However, acute graft-versu...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/s12185-013-1421-x
更新日期:2013-09-01 00:00:00
abstract::We describe a patient with Wegener granulomatosis (WG) who underwent long-term cyclophosphamide treatment and thereafter developed acute myelogenous leukemia (AML). After the AML was induced into remission, the patient received an allogeneic stem cell transplant (allo-SCT) from his sibling after undergoing a reduced-i...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/IJH97.05148
更新日期:2006-04-01 00:00:00
abstract::We report a patient from an endemic area of adult T-cell leukemia/lymphoma (ATLL), who developed lymphoma with features characteristic of Hodgkin's disease (HD). Large atypical Reed-Sternberg/Hodgkin's cells (RS/H cells) had a CD3-CD15+CD20-CD30+CD45RO- immunophenotype. Epstein-Barr virus (EBV) latent membrane protein...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1016/0925-5710(95)00365-y
更新日期:1995-06-01 00:00:00
abstract::The study was aimed to explore the efficacy and safety of allo-HSCT with high-dose cyclophosphamide-induced immune tolerance for SAA. In the present study, 20 cases (12 male, 8 female; average age = 17.8 years) received reduced-intensity conditioning allo-HSCT from August 2012 to August 2014 in the Beijing Military Re...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-016-2106-z
更新日期:2016-12-01 00:00:00
abstract::We describe a variant form, French-American-British (FAB) M3v, of acute promyelocytic leukemia (APL; FAB M3) with atypical morphocytochemical features, immature antigens (CD34 and HLA-DR) and marked myelofibrosis (MF). Usual APL cells do not express CD34 or HLA-DR antigens. MF may be more frequently observed in patien...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02982068
更新日期:2001-10-01 00:00:00
abstract::Autoimmune hemolytic anemia (AIHA) is a rare comorbidity in colorectal cancer (CRC) and has an unknown etiology. Previously, we described an AIHA case secondary to CRC with ectopic band 3 expression. Herein, we investigated ectopic band 3 expression and erythrocyte membrane-bound IgG in a CRC cohort. Between September...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-020-02831-y
更新日期:2020-05-01 00:00:00
abstract::In an attempt to assess the effects and toxicity of brief induction chemotherapy plus involved-field irradiation for localized intermediate- and high-grade non-Hodgkin's lymphoma, we conducted a single-arm prospective trial between May 1987 and July 1991. Patients received four cycles of a five-drug chemotherapy regim...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
abstract::Shwachman-Diamond syndrome (SDS) is a rare congenital disorder featuring exocrine pancreatic insufficiency, growth retardation, and bone marrow dysfunction. Reports suggest that nearly 25% of all cases are complicated with leukemia. Although stem cell transplantation is the sole option for these patients, successful r...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1532/ijh97.03103
更新日期:2004-02-01 00:00:00
abstract::We describe a patient with persistent pure red cell aplasia due to human parvovirus B19 (HPVB19) infection during immunosuppressive therapy for refractory autoimmune hemolytic anemia (AIHA). The patient had been given corticosteroid (CS) and/or azathioprine for AIHA. During the course of treatment, reticulocyte count ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/ijh97.04017
更新日期:2004-10-01 00:00:00
abstract::Antiphospholipid antibodies are autoantibodies directed against anionic phospholipids or protein-phospholipid complexes measured in solid-phase immunoassays such as anticardiolipin (aCL) antibody or detected in phospholipid-dependent clotting tests as lupus anticoagulant (LA). The term "antiphospholipid syndrome (APS)...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/BF03165086
更新日期:2002-08-01 00:00:00
abstract::A 67-year-old female was referred to our hospital with a sternal fracture in March 2008. She received a diagnosis of multiple myeloma (MM) BJP-κ type (ISS stage III). G-banding karyotype revealed 46, XX, t(11;22)(q23.3;q11.2) (Hubacek, Gene 592:193-9, 2016), which was later confirmed to be congenital. After repeated r...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-019-02603-3
更新日期:2019-06-01 00:00:00
abstract::A pilot phase I/II study was conducted as a single-institute trial for evaluation of the feasibility and efficacy of a new salvage chemotherapy, CHASE, for patients with refractory or relapsed lymphoma . The CHASE regimen, consisting of cyclophosphamide, cytosine arabinoside, etoposide, and dexamethasone, was administ...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/BF02986620
更新日期:2003-06-01 00:00:00
abstract::Biphenotypic acute leukemia co-expressing T-lymphoid and myeloid markers is rare, accounting for less than 1% of acute leukemias. However, several clinical characteristics including male predominance, frequent lymphadenopathy and unfavorable outcome have been identified. Recurrence of monosomies 7p and/or 12p in T/mye...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-009-0268-7
更新日期:2009-04-01 00:00:00
abstract::Gemcitabine is a nucleoside analogue used widely across haemato-oncology. Side effects are generally predictable, and typically consist of cytopenia, nausea, and infection. As the present case clearly demonstrates, gemcitabine is in rare cases associated with life-threatening large vessel vasculitis, which can involve...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-014-1555-5
更新日期:2014-06-01 00:00:00
abstract::Between 1978-1988, seven cases of multiple myeloma were found in T Town (population 9,000), which is located at the mouth of a large river within the boundaries of Tokushima City, Japan. This is a significantly high incidence, 7.06 per 100,000 as compared with an incidence of 1.20 in Tokushima City itself and 1.53 in ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
abstract::Post-transplant lymphoproliferative disorders (PTLDs) occur in 3.5-9% of patients after pediatric cardiac transplantation. Caution is needed when treating patients with PTLD because of the risk of allograft rejection frequently caused by withdrawal of immunosuppression. In this report, we describe a 47-month-old boy w...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-008-0250-9
更新日期:2009-03-01 00:00:00
abstract::The t(14;19)(q32;q13) is a recurring translocation found in some patients with chronic lymphocytic leukemia (CLL), and the t(14;19) juxtaposes the BCL3 gene on chromosome 19 with the immunoglobulin heavy chain gene (IGH) locus on chromosome 14. Genomic DNAs from 49 patients with chronic B-cell leukemia and the related...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract::We report a case of primary extramedullary plasmacytoma (PEMP), IgA kappa type, with a long clinical history, in a 64-year-old Japanese woman. In this case, PEMP occurred primarily in the jejunum and then recurred in several organs, specifically the spleen and stomach, and in the subcutaneous tissue, over a period of ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
abstract::The Wilms tumor gene WT1 is expressed in leukemias and various kinds of solid tumors, including lung and breast cancer, and exerts an oncogenic function in these malignancies, suggesting that WT1 protein is a novel, overexpressed tumor antigen. The WT1 protein, in fact, is an attractive tumor rejection antigen in anim...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/BF02982574
更新日期:2002-08-01 00:00:00
abstract::Extranodal natural killer/T cell lymphoma, nasal type (ENK/TCL), is an aggressive and rare hematological malignancy. Patients with advanced and relapsed/refractory disease have very poor outcomes. In this study, we retrospectively assessed the efficacy and safety of MEDA regimen (methotrexate, etoposide, dexamethasone...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-015-1809-x
更新日期:2015-08-01 00:00:00