Abstract:
:The molecular basis of triosephosphate isomerase (TPI) deficiency was studied in 3 patients from three separate families. In all 3 patients, genomic DNA directly sequenced after amplification by the polymerase chain reaction exhibited the point mutation TPI315C amino acid 104 Glu-->Asp. Although other mutations known to cause TPI deficiency have been restricted to single families, the amino acid 104 defect has now been described in nine apparently unrelated families throughout the world and is clearly the most frequently occurring form of the disorder. The basis of the repetitive occurrence of this mutation remains unexplained.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Schneider A,Westwood B,Yim C,Prchal J,Berkow R,Labotka R,Warrier R,Beutler Edoi
10.1002/ajh.2830500407subject
Has Abstractpub_date
1995-12-01 00:00:00pages
263-8issue
4eissn
0361-8609issn
1096-8652journal_volume
50pub_type
杂志文章abstract::After the patents of biopharmaceuticals have expired, based on specific regulatory approval pathways copied products ("biosimilars" or "follow-on biologics") have been launched in the EU. This article summarizes experiences with hematopoietic medicines, namely the epoetins (two biosimilars traded under five different ...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.21805
更新日期:2010-10-01 00:00:00
abstract::The objective of this study is to establish a method to identify patients with primary immune thrombocytopenia (ITP) utilizing administrative data from diverse data sources that would be appropriate for epidemiologic studies of ITP, regardless of patients' age and source of health care. Medical records of the Oklahoma...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23226
更新日期:2012-09-01 00:00:00
abstract::Indolent non-hodgkin lymphomas (iNHL) are a rare cause of monoclonal immunoglobulin deposits-related glomerulopathy (mIgGN). In patients with iNHL-related mIgGN, whether treatment should include either single or a combination of drug(s) to target the malignant clone and renal inflammation remains elusive. In this retr...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/ajh.23798
更新日期:2014-10-01 00:00:00
abstract::We describe a newly detected alpha-thalassemia-2 (alpha-thal-2) deletion characterized by a small -2.7-kb deletion involving the alpha 1 globin gene. This deletion has thus far been observed in only one Chinese subject with Hb H disease. ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830380321
更新日期:1991-11-01 00:00:00
abstract::In 2010, the Food and Drug Administration (FDA) added a black box warning to anti-D immune globulin (Rho(D) immune globulin, anti-D) for immune thrombocytopenia (ITP) to warn of the complications related to severe hemolysis. The objective of this retrospective medical record review was to examine recent trends in anti...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.22261
更新日期:2012-03-01 00:00:00
abstract::A case of red cell adenosine deaminase (ADA) overproduction associated with hereditary hemolytic anemia is reported here. This appears to be the second report. Proband is a 38-year-old Japanese male who had hemoglobin, 15.8 g/100 ml; reticulocyte count, 4.5%; serum indirect bilirubin, 4.9 mg/100 ml; 51Cr-labeled red c...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830050205
更新日期:1978-01-01 00:00:00
abstract::The objective of this case-matched study was to compare the efficacy and toxicity of the addition of clarithromycin (Biaxin) to lenalidomide/low-dose dexamethasone (BiRd) vs. lenalidomide/low-dose dexamethasone (Rd) for newly diagnosed myeloma. Data from 72 patients treated at the New York Presbyterian Hospital-Cornel...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/ajh.21777
更新日期:2010-09-01 00:00:00
abstract::We have studied telomere length in the bone marrow cells or the granulocyte and lymphocyte cell fractions of 54 patients with myelodysplastic syndromes (MDS) by Southern blot hybridization using the (TTAGGG)4 probe. The average telomere length expressed as the peak telomere repeat array (TRA) in the peripheral blood, ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199712)56:4<266::aid-ajh12
更新日期:1997-12-01 00:00:00
abstract::Current information about clinical significance of IDH mutations in myelodysplastic syndromes (MDS), their association with other genetic alterations and the stability during disease progression is limited. In this study, IDH mutations were identified in 4.6% of 477 patients with MDS based on the FAB classification an...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23596
更新日期:2014-02-01 00:00:00
abstract::The synthesis of alpha and non-alpha chains of human hemoglobin (Hb) was studied in reticulocytes and in BFUe-derived cell colonies from patients with alpha chain or beta chain deficiencies. The subjects included normal adults (alpha alpha/alpha alpha) with or without a beta chain variant (Hb S, Hb Leslie) or an alpha...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830100302
更新日期:1981-01-01 00:00:00
abstract::Lysosomes (granules) of rabbit PMN leukocytes were extracted with either HCl or H2SO4, and the extracts were chromatographed over Sephadex to separate protein constituents. Some of the low molecular weight cationic proteins homogeneous on SDS PAGE (8% and 12.5% gels) were characterized by electrophoretic mobility in a...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830070309
更新日期:1979-01-01 00:00:00
abstract::We investigated the rare case of a patient with IgGlambda multiple myeloma for whom both prothrombin time and APTT were significantly prolonged. The IgG inhibited coagulation reactions upstream from prothrombin when coagulation was initiated by mRVVT, but not by FXa, as indicated by a chromogenic substrate for FXa. Th...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10449
更新日期:2004-01-01 00:00:00
abstract::Corticosteroids are essential and one of the mainstays in the treatment of acute lymphoblastic leukemia (ALL). In vitro assays show that dexamethasone(DXM) is five to six times more cytotoxic to leukemic lymphoblasts than prednisolone (PDN) [1], and the use of DXM as an alternative drug for PDN is an important issue i...
journal_title:American journal of hematology
pub_type: 信件,随机对照试验
doi:10.1002/ajh.21827
更新日期:2010-10-01 00:00:00
abstract::Fifty-six adult patients with newly diagnosed acquired severe aplastic anemia (SAA) received horse antilymphocyte globulin (ALG), cyclosporin A (CyA), methylprednisolone (Mpred), granulocyte colony-stimulating factor (G-CSF) as first-line therapy. The median age was 34 (range, 17-72) and median neutrophil count 0.280 ...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1002/ajh.20954
更新日期:2007-09-01 00:00:00
abstract::We report a case of a 61-year-old man with head and neck cancer who presented with pancytopenia two months after the completion of his chemotherapy and was diagnosed with myelodysplasia on the basis of two bone marrow examinations, before the correct diagnosis of visceral leishmaniasis was established with splenectomy...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10408
更新日期:2003-11-01 00:00:00
abstract::The FAB classification of myelodysplastic syndromes (MDS) has been useful in predicting prognosis; however, additional methods are required to detect patients at high risk for early conversion to acute nonlymphoblastic leukemia (ANLL). Using a panel of monoclonal antibodies to myelomonocytic surface antigens (MMSA) an...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.2830430302
更新日期:1993-07-01 00:00:00
abstract::Novel agents in combination with melphalan and prednisone (MP) significantly improved progression-free survival (PFS) and overall survival (OS) in multiple myeloma (MM). Randomized trials comparing MP plus bortezomib (VMP) versus MP plus thalidomide (MPT) are lacking. Nine hundred and fifty-six elderly (>65 years) new...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23641
更新日期:2014-04-01 00:00:00
abstract::Transfusion-related acute lung injury (TRALI) is associated with administration of all plasma containing blood products. We present a 14-year-old adolescent diagnosed with idiopathic thrombocytopenic purpura who developed acute respiratory insufficiency compatible with TRALI within 5 hr following intravenous anti-D. F...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21185
更新日期:2008-08-01 00:00:00
abstract::How often elevated serum ferritin in primary-care patients reflects increased iron stores (normally 0.8 g in men, 0.4 g in women) is not known. The Hereditary Hemochromatosis and Iron Overload Screening (HEIRS) study screened 101,168 primary-care participants (44% Caucasians, 27% African-Americans, 14% Asians/Pacific ...
journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究
doi:10.1002/ajh.21179
更新日期:2008-08-01 00:00:00
abstract::The case of a 21 year-old female with echinocytosis and a littoral cell hemangioma is reported. The patient had no significant past medical history and presented with abdominal pain and splenomegaly. A large percentage of echinocytes were noted on her peripheral smear in the absence of any known causes. A CT-recognize...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20558
更新日期:2006-07-01 00:00:00
abstract::We studied 15 patients with essential thrombocythemia (ET) before treatment and after normalization of platelet count by anagrelide. Significantly increased plasma levels of PDGF, TGFbeta, and bFGF were found. Patients with mild reticulin fibrosis in bone marrow had higher PDGF levels. During treatment, plasma TGFbeta...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1002/ajh.10091
更新日期:2002-06-01 00:00:00
abstract::The authors report a 10-year-old boy with hepatosplenic gammadelta T-cell lymphoma, a rare form of lymphoma that is highly aggressive, exceedingly rare in children, and primarily seen in young men. Conventional multi-agent chemotherapy appears to be inadequate for cure. This is the first report with this type of lymph...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10466
更新日期:2004-02-01 00:00:00
abstract::A patient with Felty's syndrome (FS) and persistent profound neutropenia developed recurrent infections and sepsis syndrome. No impairment of granulocyte-macrophage colony development was observed in vitro. Marrow morphology revealed an absence of mature neutrophil forms despite administration of granulocyte-colony st...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830430415
更新日期:1993-08-01 00:00:00
abstract::The efficacy of the three common intra- and extragenic polymorphic sites of the factor VIII and IX genes has been examined in the Indian population, with an aim to develop a strategy that would be accurate and informative, yet economical. The approach for hemophilia A carrier detection includes tests for BclI, XbaI, a...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199704)54:4<271::aid-ajh2>
更新日期:1997-04-01 00:00:00
abstract::The effect of heparin on platelet aggregation was systematically examined on platelets in plasma (PRP), as well as on gel-filtered, washed, and formaldehyde-fixed platelets. Results indicate that, although heparin causes a mild potentiation of platelet aggregation in the PRP systems, a significant inhibitory activity ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830170310
更新日期:1984-10-01 00:00:00
abstract::Polycythemia vera (PV) and essential thrombocythemia (ET) are common types of myeloproliferative disorders (MPD), the prevalence of which has not been well documented in the United States. Recent breakthroughs in the molecular etiology of these disorders and the accelerated development of targeted pharmacotherapeutics...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21129
更新日期:2008-05-01 00:00:00
abstract::This paper describes, for the first time, the utilization of nebulized morphine in the management of severe chest pain in two young adult African-American patients who suffered from generalized acute sickle cell painful episodes. While hospitalized, both patients developed new sharp chest wall pain, and were treated w...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20064
更新日期:2004-06-01 00:00:00
abstract::The hereditary persistence of fetal hemoglobin (HPFH)-6 is sporadically found in Thailand whereas the deletion-inversion type (G)gamma((A)gamma delta beta)(0)-thalassemia is described among Indians. We report a hitherto un-described case in which these two defects co-segregate. He was a 3-year-old Thai boy who had a f...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10202
更新日期:2002-10-01 00:00:00
abstract::Since trisomy 12 is the most common chromosome abnormality found in CLL and MDM2 has been mapped to this chromosome, we examined the possible association of MDM2 in the pathogenesis of CLL. A rearrangement of the MDM2 gene was observed in 4 of 11 peripheral blood mononuclear cells (PBMC) from patients with CLL by Sout...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830470215
更新日期:1994-10-01 00:00:00
abstract::The treatment of corticosteroid- and/or splenectomy-refractory immune thrombocytopenic purpura (ITP) includes vinca alkaloids, immunosuppressives, Danazol, intravenous gammaglobulin, and alpha-interferon. However, these treatments have often been associated with toxic side effects. Brox et al. (Br J Haematol 70:341-34...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830430110
更新日期:1993-05-01 00:00:00