Abstract:
:We report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237-->C mutation, leading to Phe71-->Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71-->Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71-->Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Au WY,Lam CC,Cheung WC,Kwong YLdoi
10.1007/s00277-003-0803-1subject
Has Abstractpub_date
2004-05-01 00:00:00pages
304-6issue
5eissn
0939-5555issn
1432-0584journal_volume
83pub_type
杂志文章abstract::High-dose immunosuppressive therapy (HDIT) with autologous hematopoietic stem cell transplantation (AHSCT) is a promising approach to treatment of multiple sclerosis (MS) patients. In this paper, we present the long-term outcomes of a prospective single-center study with the analysis of the safety and efficacy of HDIT...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-015-2337-8
更新日期:2015-07-01 00:00:00
abstract::Hydroxyurea is increasingly being used to control myeloproliferative disorders, in part because of its relative lack of side effects. We present a case of life-threatening alveolitis in a patient treated with hydroxyurea for myeloproliferative syndrome. Absence of exposure to other drugs and the clinical course sugges...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01701737
更新日期:1993-09-01 00:00:00
abstract::The aim of this study was to evaluate the role of computed tomography (CT)-guided core needle biopsy (CNB) performed by modified coaxial technique as an alternative tool to surgical biopsy in patients with refractory or recurrent lymphomas. Between May 2005 and May 2012, 57 CT-guided CNB of deep lesions were performed...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-014-2078-0
更新日期:2014-09-01 00:00:00
abstract::The clinical targets for which new generations of antithrombotics have been or are currently under clinical development are those associated with a high risk for thromboembolism, (a) patients undergoing general, orthopedic, major abdominal, and cancer surgery, to prevent venous thromboembolism; (b) patients with deep-...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s002770050158
更新日期:1996-04-01 00:00:00
abstract::A prospective randomized phase III study was performed to evaluate whether intensified cytarabine would induce a higher response rate and longer event-free interval as compared to low-dose cytarabine in chronic myeloid leukemia (CML). One hundred and eighteen patients with CML in early chronic phase entered the study....
journal_title:Annals of hematology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00277-006-0186-1
更新日期:2007-02-01 00:00:00
abstract::Several revisions of International Prognostic Index (IPI) have been proposed for patients with diffuse large B-cell lymphoma (DLBCL) after the introduction of rituximab. Expanding evidence suggests that baseline absolute lymphocyte count (ALC) is also an independent factor for outcome prediction. We investigated the o...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-013-1807-0
更新日期:2013-11-01 00:00:00
abstract::Information regarding prognostic determinants of outcome after splenectomy for adult immune thrombocytopenic purpura (ITP) and the management of postsplenectomy relapse is limited. Among 140 adult patients with ITP who had therapeutic splenectomy at our institution, 88% achieved either a complete (platelets > 150 x 10...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-002-0461-8
更新日期:2002-06-01 00:00:00
abstract::African Americans have two- to three-fold higher incidence of multiple myeloma and MGUS compared to other ethnic groups in the USA. Some physicians often perform diagnostic evaluations for plasma cell disorders (PCD) in African American patients on the basis of hematological abnormalities (thrombocytopenia, leucopenia...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-013-1990-z
更新日期:2014-06-01 00:00:00
abstract::Because of the widespread use of immunosuppressive drugs, CMV infection is one of the most important causes of morbidity and mortality in patients with haematological malignancies worldwide. The aim of the study was to retrospectively analyse the epidemiology of CMV infection in haematological patients. Between 2008 a...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-016-2831-7
更新日期:2017-01-01 00:00:00
abstract::A 24-year-old woman with a large cell anaplastic CD 30-positive T-cell non-Hodgkin's lymphoma (NHL) developed downbeat nystagmus, anisocoria, and oscillopsia. Prior to overt cerebral invasion by NHL, she had a thiamine deficiency with very low thiamine concentrations in the CSF, probably caused by protracted vomiting ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050484
更新日期:1999-02-01 00:00:00
abstract::During the last few years, new insights into the biology of mantle cell lymphoma have been obtained. However, with a median survival of only 3 years, mantle cell lymphoma remains the lymphoma subtype with the poorest prognosis. At initial diagnosis most patients present with advanced Ann Arbor stage III or IV and conv...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-003-0774-2
更新日期:2004-02-01 00:00:00
abstract::Infections and especially blood stream infections (BSI) with gram-negative bacteria (GNB) represent a major threat for patients with hematological diseases undergoing chemotherapy and mainly contribute to morbidity and mortality. In this retrospective single-center study, we analyzed the impact of BSI with different g...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-018-3423-5
更新日期:2018-11-01 00:00:00
abstract::The purine analogs (PAs) cladribine and pentostatin have transformed the prognosis of hairy cell leukemia (HCL). However, some patients still relapse after PAs, or fail to reach an optimal response, and new agents are needed to further improve treatment outcome. We retrospectively studied 41 HCL patients from 10 cente...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-014-2175-0
更新日期:2015-01-01 00:00:00
abstract:PURPOSE AND METHODS:Nowadays more people are becoming older. The median age of a patient with non-Hodgkin's lymphoma (NHL) at diagnosis is over 60 years. The incidence of NHL in elderly has increased in the last decades. Therefore, in the future, NHL will be diagnosed more often in the elderly. Data of all patients in ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770000255
更新日期:2001-03-01 00:00:00
abstract::This retrospective study attempts to establish if a correlation exists between osteoporosis and hematopoiesis before and after adjuvant chemotherapy in the context of non-metastatic breast cancer. Osteoporosis is interpreted both as a direct marker of osteoblastic decline and as an indirect marker of increased bone ma...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-017-3184-6
更新日期:2018-02-01 00:00:00
abstract::Haemoglobinopathies are the world's most frequently found monogenic disorders. In the cases with high oxygen affinity, the decrease in the liberation of the oxygen determines a secondary erythrocytosis. In this work, we present 17 unrelated families of Caucasian race and of Spanish origin, with ten variants of haemogl...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-008-0581-x
更新日期:2009-03-01 00:00:00
abstract::The clinical experience of the significant difference in iron metabolism between multiple myeloma and myelodysplasia prompted us to analyse patients according to mutation frequency in the hemochromatosis gene (HFE) known to participate in the regulation of iron metabolism. HFE genotyping results were also evaluated in...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0178-1
更新日期:2006-12-01 00:00:00
abstract::Indolent primary cutaneous B cell lymphomas (PCBCL) generally have a good prognosis, but they often relapse leading in some cases to extracutaneous disease and therefore, to poor survival. We developed a prognostic model to improve the therapeutic approach to these lymphomas. Two hundred and seventeen patients with di...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-010-1083-1
更新日期:2011-04-01 00:00:00
abstract::Renal failure is one of the worst complications occurring in multiple myeloma (MM) patients. It does not affect survival if reverted by a prompt chemotherapy before the damage becomes irreversible; therefore, the early diagnosis of renal dysfunction is crucial. High and low molecular weight urinary proteins have prove...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-003-0699-9
更新日期:2003-08-01 00:00:00
abstract::To characterize T-cell large granular leukemia in Asia, 22 Chinese patients from a single institute were reported, together with an analysis of 88 Asian and 272 Western patients identified from the literature. In our cohort, anemia due to pure red cell aplasia (PRCA) occurred in 15/22 (68%) of cases, being the most co...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-009-0895-3
更新日期:2010-04-01 00:00:00
abstract::Elevation of echocardiography-determined tricuspid regurgitant jet velocity (TRV) predicts high systolic pulmonary artery pressure. The present study tested the hypotheses that elevated tricuspid regurgitant jet velocity is associated with both hemolysis and hypoxia and abnormal 6-min walk test (6MWT) results. This st...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-014-2030-3
更新日期:2014-07-01 00:00:00
abstract::Philadelphia-negative myeloproliferative neoplasms (MPNs) are a diverse group of diseases whose common feature is the presence of V617F mutation of the JAK2 gene. In the era of novel therapeutic strategies in MPNs, such as JAK-inhibitor therapy, there is a growing need for establishing high sensitive quantitative meth...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-018-3451-1
更新日期:2018-12-01 00:00:00
abstract::The JAK2V617F mutation is part of the major criteria for diagnosis of myeloproliferative neoplasms (MPN). Allele-specific quantitative PCR (qPCR) is the most prevalent method used in laboratories but with the advent of next-generation sequencing (NGS) techniques, we felt necessary to evaluate this approach for JAK2 mu...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-018-3499-y
更新日期:2019-01-01 00:00:00
abstract::Follicular lymphoma (FL) is generally considered an indolent disorder. With modern day treatments, long remissions are often achieved both in the front-line and relapsed setting. However, a subset of patients has a more aggressive course and a worse outcome. Their identification is the main purpose of modern day progn...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-017-3154-z
更新日期:2018-02-01 00:00:00
abstract::Marked polyclonal immunoglobulin (Ig)G4 hypergammaglobulinemia has exceptionally been reported. Here we report on two Algerian patients who presented a syndrome characterized by anemia, plasmacytic lymphadenopathy, renal manifestations, and a marked polyclonal IgG4 hypergammaglobulinemia leading to a hyperviscosity sy...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0158-5
更新日期:2006-12-01 00:00:00
abstract::Three adolescents with central nervous system (CNS) negative acute myeloid leukaemia (AML) refused cranial irradiation for CNS prophylaxis. Instead, these patients received four doses of 50 mg of intrathecal (IT) liposomal cytarabine on day 1, 15, 43 and 71 of maintenance therapy. Corticosteroids were given to prevent...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-008-0521-9
更新日期:2008-11-01 00:00:00
abstract::We assessed the origin of peripheral blood cells and bone marrow cells of 92 samples obtained from 19 patients after allo BMT by two-step polymerase chain reaction (PCR) amplification of MCT118, one of the variable number of tandem repeat regions (VNTR) which has a different length in 19 of 32 sibling pairs examined, ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01834365
更新日期:1994-04-01 00:00:00
abstract::Mutations in the HFE gene result in iron overload and can produce hereditary hemochromatosis (HH), a disorder of iron metabolism characterized by increased intestinal iron absorption. Dietary quality, alcoholism and other life-style factors can increase the risk of iron overload, especially among genetically at risk p...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-010-0901-9
更新日期:2010-08-01 00:00:00
abstract::Multicentric Castleman's disease (MCD) is a rare systemic lymphoproliferative disorder with too few patient series reported in the literature to have a clear idea about the etiology, outcome and the best treatment available. Systemic reactive amyloidosis is a very rare complication of MCD and its presence worsens the ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-003-0718-x
更新日期:2003-12-01 00:00:00
abstract::In this prospective multicentric study, we investigated the contribution of positron emission tomography (PET) scanning to the staging of Hodgkin's lymphoma (HL) by computed tomography (CT) and attempted to determine whether it has any impact on therapeutic approach. One hundred eighty six consecutive patients with HL...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-007-0356-9
更新日期:2007-12-01 00:00:00