Abstract:
:Prenatal diagnosis was carried out on a woman who had previously given birth to a son with a spontaneous mutation of C-->T transition at nt 31133 of the factor IX (F.IX) gene. The diagnosis was performed on chorionic villi sampling by the method of amplification-created restriction site (ACRS). It revealed a female fetus with a normal F.IX gene, as confirmed by DNA sequencing after delivery. Meanwhile, a survey using the ACRS method to evaluate the inheritance of 63 individuals from 8 hemophilia B families was done. A different single-point mutation in each family was proved by DNA sequencing. One individual had a mutation with a naturally-created restriction site. In each of the remaining patients, we were able to show an enzyme-cutting site in their DNA amplification product for ACRS with the designed mutagenesis primers. All patients and carriers could be diagnosed accurately by comparing ACRS results with clinical and laboratory findings. There were new novel mutations among the patients.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Young JH,Wang JC,Gau JP,Hu HTdoi
10.1002/(SICI)1096-8652(199608)52:4<243::AID-AJH1>subject
Has Abstractpub_date
1996-08-01 00:00:00pages
243-7issue
4eissn
0361-8609issn
1096-8652pii
10.1002/(SICI)1096-8652(199608)52:4<243::AID-AJH1>journal_volume
52pub_type
杂志文章abstract::Pancytopenia is a rare complication of the thionamide therapy reported secondary to aplastic anemia, the bone marrow being invariably hypocellular. We present a case of a 16-year-old female with Graves' disease who presented with massive bone marrow plasmocytosis mimicking multiple myeloma. The patient had already bee...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.1127
更新日期:2001-08-01 00:00:00
abstract::Older patients with acute myeloid leukemia (AML) have poor outcomes, with median durations of complete remission lasting less than 1 year. Increased toxicity in older patients limits the delivery of standard consolidation therapies, such as allogeneic stem cell transplant or high-dose cytarabine. Azacitidine, a nucleo...
journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究
doi:10.1002/ajh.24087
更新日期:2015-09-01 00:00:00
abstract::A single-strand conformation polymorphism (SSCP) analysis of polymerase chain reaction (PCR)-amplified products of immunoglobulin (Ig) heavy chain rearrangements can be used to analyze B cell clonalities and clonal identities of B cells from different samples. However, the usefulness of the PCR-SSCP analysis is not fu...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199910)62:2<74::aid-ajh2>3
更新日期:1999-10-01 00:00:00
abstract::The role of peripheral platelet destruction as a reversible etiology of thrombocytopenia in chronic lymphocytic leukemia (CLL) was evaluated in nine patients with CLL and refractory thrombocytopenia who underwent splenectomy. The patients' ages ranged from 54 to 74 years. Progressive thrombocytopenia refractory to ant...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830150306
更新日期:1983-11-01 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::Febrile neutropenia (FN) is a frequent complication of cancer chemotherapy, which causes death in 4-21% of patients and worsens the quality of life of patients. As a simple and accurate way of identifying patients who are at risk of FN, a lymphocyte count on post-chemotherapy day 5 was suggested. To confirm the feasib...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10363
更新日期:2003-08-01 00:00:00
abstract::The clinical development of lenalidomide (Revlimid™), then pomalidomide (Actimid™) as members of immunomodulatory drugs (IMiDs) for the treatment of multiple myeloma (MM), exemplifies how insight into disease biology can lead to design of effective therapeutic agents. Increased experience and understanding of IMiD's d...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.23234
更新日期:2012-12-01 00:00:00
abstract::Several parameters may predict disease severity and overall survival in chronic lymphocytic leukemia (CLL). The purpose of our study of 190 CLL patients was to compare immunoglobulin heavy chain variable region (IgV(H)) mutation status, cytogenetic abnormalities, and leukemia cell CD38 and Zap-70 to older, traditional...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20987
更新日期:2007-12-01 00:00:00
abstract::Langerhans cell histiocytosis (LCH) is an enigmatic histiocytic proliferative disorder of unknown etiology that affects children primarily. We have investigated the possibility that viruses are etiological or that they have a "triggering effect" in LCH. Sensitive in situ hybridization and polymerase chain reaction (PC...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830470104
更新日期:1994-09-01 00:00:00
abstract::Phosphatidylinositol-3-kinase (PI3K) signaling plays a crucial role in oncogene-mediated tumor growth and proliferation. Buparlisib (BKM120) is an oral pan-class I PI3K inhibitor. This phase I study was conducted to determine the dose limiting toxicity (DLT) and maximum tolerated dose (MTD) of BKM120 in patients (pts)...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24568
更新日期:2017-01-01 00:00:00
abstract::Mutations in the calreticulin gene (CALR) were recently identified in approximately 70-80% of patients with JAK2-V617F-negative essential thrombocytosis and primary myelofibrosis. All frameshift mutations generate a recurring novel C-terminus. Here we provide evidence that mutant calreticulin does not accumulate effic...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24245
更新日期:2016-02-01 00:00:00
abstract::Non-Hodgkin lymphoma arising in the context of immunosuppression is an important adverse outcome after solid organ transplantation. Diffuse large B-cell lymphoma (DLBCL) is the most commonly diagnosed subtype of post-transplantation non-Hodgkin lymphoma, but few studies of transplant recipients have examined subtype-s...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23726
更新日期:2014-07-01 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::Among 47 patients with thrombotic thrombocytopenic purpura (TTP), 8 patients were diagnosed to have postoperative-TTP. Two patients underwent vascular surgery, 5 patients coronary artery bypass grafts, and 1 patient resection of myocardial sarcoma. Prior to surgery, all patients except one had normal hemograms and pla...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(SICI)1096-8652(199609)53:1<11::AID-AJH3>3
更新日期:1996-09-01 00:00:00
abstract::Acute myeloid leukemia (AML) is defined as ≥20% myeloblasts, representing a change from original guidelines where ≤30% blasts were considered as myelodysplastic syndromes (MDS), and 20-29% blasts classified as refractory anemia with excess blasts in transformation (RAEB-T). Whether the diagnostic bone marrow blast per...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24252
更新日期:2016-02-01 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::Cobalamin derivatives serve as coenzymes for the body's two cobalamin-dependent enzymes--adenosylcobalamin-dependent methylmalonyl CoA mutase, and methylcobalamin-dependent methionine methyltransferase. This essay reviews, in brief form and in personal terms, the history, beginning in the mid-1950s, of how these enzym...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.2830340203
更新日期:1990-06-01 00:00:00
abstract::Neutrophil elastase (NE) is a serine protease stored in the primary granules of neutrophils that proteolytically cleaves multiple cytokines and cell surface proteins on release from activated neutrophils. Recent reports of mutations in the gene encoding this enzyme in some patients with neutropenic syndromes prompted ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10434
更新日期:2003-11-01 00:00:00
abstract::Therapy of Hodgkin lymphoma (HL) is designed to prolong survival and minimize toxicity. A total of 124 patients with newly diagnosed HL and adverse prognostic factors were prospectively studied between July, 1999 and August, 2005. Patients with early unfavorable and advanced disease were eligible for the study. Patien...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.22187
更新日期:2012-01-01 00:00:00
abstract::The underlying mechanisms of reactive macrophage activation syndromes (rMAS) are not understood in detail, and there is no specific treatment. This observational study was prompted by intravenous immunoglobulin (IVIG), dramatically halting two distinct rMAS episodes in the same patient. We evaluated the potential bene...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.1141
更新日期:2001-09-01 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
abstract::Defects in stomatin, alpha-adducin, and beta-adducin have been implicated in erythrocyte disorders of cation permeability. We performed linkage analysis of the genetic loci for these proteins in a large kindred with xerocytosis (dehydrated hereditary stomatocytosis). Using polymerase chain reaction-based genotyping te...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199901)60:1<72::aid-ajh13>
更新日期:1999-01-01 00:00:00
abstract::We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill-defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and i...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830320402
更新日期:1989-12-01 00:00:00
abstract::Hemoglobin Lyon-Bron was found in two members of a family of German ascent presenting with a moderate normocytic anemia. In this alpha 2 globin variant, the N-terminal valine of the chain was replaced by an alanine. Electrospray mass spectrometry of the alpha chain showed that, as normally, the initiator methionine wa...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10051
更新日期:2002-03-01 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::Botrocetin, a protein isolated from the venom of the snake Bothrops jararaca, induces platelet aggregation/agglutination by von Willebrand factor (vWF) binding to the membrane glycoprotein (GP) Ib, an action resembling that of ristocetin. However, some differences in the interaction between vWF and platelet GPIb induc...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830330409
更新日期:1990-04-01 00:00:00
abstract::Red blood cell (RBC) autoantibodies are a relatively uncommon cause of anemia. However, autoimmune hemolytic anemia (AIHA) must be considered in the differential diagnosis of hemolytic anemias, especially if the patient has a concomitant lymphoproliferative disorder, autoimmune disease, or viral or mycoplasmal infecti...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.10062
更新日期:2002-04-01 00:00:00
abstract::We performed a laparoscopic splenectomy (LS) in 60 patients (age 9-83, 45 females) with idiopathic thrombocytopenic purpura (ITP) who did not achieve sustained remission on steroid therapy. Using a modified procedure, the mean duration of LS was 78 min (range 25-240 min) and surgery was associated with only 5% major a...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(200001)63:1<7::aid-ajh2>3.
更新日期:2000-01-01 00:00:00
abstract::We have developed a rapid approach to detect the two most common alpha-thalassemia-2 (alpha-thal-2) determinants by the polymerase chain reaction (PCR) technique, which takes a few hours to complete. Specific oligonucleotides selectively amplify appropriate segments of the chromosome with the deletion and the normal c...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830460309
更新日期:1994-07-01 00:00:00
abstract::Philadelphia chromosome (Ph1) positive, or "adult-type," chronic granulocytic leukemia (CGL) differs in many clinical and laboratory aspects from PH1-negative, or "juvenile," CGL. Because of these differences, the disorders have been considered two distinct disease entities. We present a child with Ph1-positive CGL wh...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830160114
更新日期:1984-01-01 00:00:00