Abstract:
PURPOSE OF REVIEW:Type 1 von Willebrand disease (VWD) is the most common form of VWD, but has remained [corrected] the least well understood. Recent work is changing this situation. This review summarizes recent analysis of the genetic basis of the disease. RECENT FINDINGS:Linkage analysis demonstrates that dominantly inherited, fully penetrant VWD is present in approximately 50% of type 1 families. Between 55 and 70% of index cases analysed have a candidate von Willebrand factor gene (VWF) mutation, but no mutations are present in the promotor, or protein coding sequences or splice sites of remaining cases [corrected] Missense mutations throughout VWF predominate. Blood group O is much more common in type 1 von Willebrand disease than in the general population and is particularly prevalent in cases with incompletely penetrant mutations or no VWF mutation. SUMMARY:Type 1 von Willebrand disease can be divided into three groups where (1) fully penetrant VWF mutations appear sufficient to explain the low plasma von Willebrand factor and bleeding, (2) VWF mutation may act as a risk factor for bleeding in combination with blood group O and/other unknown genetic factors, and (3) classic VWF mutations are absent but VWF may still play a role in some cases and blood group O is common.
journal_name
Curr Opin Hematoljournal_title
Current opinion in hematologyauthors
Goodeve Adoi
10.1097/MOH.0b013e32826f4b41subject
Has Abstractpub_date
2007-09-01 00:00:00pages
444-9issue
5eissn
1065-6251issn
1531-7048pii
00062752-200709000-00006journal_volume
14pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:The presence of the Philadelphia chromosome causing the fusion between BCR to ABL1 in B cell precursor acute lymphoblastic leukemias (ALLs) was associated with a particularly bad prognosis, which has been markedly improved with the addition of imatinib to chemotherapy. Recent genomic studies have lead...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000050
更新日期:2014-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Infantile hemangioma is a common vascular tumor with a unique lifecycle: rapid growth in infancy, followed by a period of involution, leading to complete regression. This review summarizes recent studies of molecular mechanisms of hemangioma formation and places new findings and hypotheses in the cont...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32832a07ff
更新日期:2009-05-01 00:00:00
abstract::Hematopoietic stem cells, defined as cells with extensive self-renewal and pluripotent differentiation potential, represent a minor population of adult bone marrow (< 1 in 10(4) to 10(5) nucleated marrow cells). Recent advances in cell surface phenotype analysis and separation technology have permitted enrichment of h...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:
更新日期:1994-05-01 00:00:00
abstract::Myeloablative therapy followed by autologous bone marrow or peripheral blood stem cell rescue is an alternative therapeutic option for patients who are not candidates for allogeneic transplantation due to the lack of an appropriate HLA-matched donor or to advanced age. It allows therapy to be administered that is of c...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199704060-00011
更新日期:1997-11-01 00:00:00
abstract::In 1994 four biotechnology research groups reported the isolation and cloning of the ligand for the cytokine receptor c-Mpl and showed it to be the long-sought regulator of platelet production, thrombopoietin. Thrombopoietin is a hematopoietic growth factor of 332 amino acids composed of an amino terminal domain homol...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199502030-00002
更新日期:1995-05-01 00:00:00
abstract::Advances in platelet transfusion have contributed to improved outcomes in the treatment of patients with cancer and leukemia. However, the optimal strategies to avoid some of the side effects that could result from platelet transfusions remain under investigation. These side effects include the development of refracto...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199603050-00003
更新日期:1996-09-01 00:00:00
abstract:PURPOSE OF REVIEW:The leukocyte adhesion deficiency (LAD) syndromes are rare genetically determined conditions with challenging clinical features. These immunodeficiencies also provide insights that are broadly relevant to the biology of leukocytes, platelets, intercellular interactions, and intracellular signaling. Re...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32835a0091
更新日期:2013-01-01 00:00:00
abstract:PURPOSE OF REVIEW:Neutrophils priming has been long studied in vitro. Recent studies describe it in vivo. In pathophysiological conditions, complex, heterogeneous characteristics of priming are described in the last few years. RECENT FINDINGS:Priming can occur systemically when insults such as sepsis or trauma result ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000471
更新日期:2019-01-01 00:00:00
abstract::The ability to move is one of the most basic and critical functions of the neutrophil. The neutrophil changes its shape from round to highly polar and glides along the surface, pausing every 45 to 60 seconds to reestablish its direction. Iterations of this sequence of small-scale motion, or shape change, sum to form t...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199603010-00007
更新日期:1996-01-01 00:00:00
abstract:PURPOSE OF REVIEW:New discoveries focused on mitochondrial metabolism and gene silencing and their regulation by the sirtuin family of protein deacetylases is stimulating new ideas on how to improve geriatric medicine. Information about sertuins in stem cell biology is scarce. We consider recent information on sirtuin ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3283043819
更新日期:2008-07-01 00:00:00
abstract::Many aspects of leukocyte function are regulated by both heterotrimeric and Ras-related GTP-binding proteins, but there is little definite information about their roles in the specialized processes utilized by leukocytes for cell killing. Recent progress in understanding the regulation of the phagocyte NADPH oxidase b...
journal_title:Current opinion in hematology
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract::Contrast venography remains the gold standard for the diagnosis of deep-vein thrombosis (DVT). However, an ongoing interest exists in developing safe diagnostic strategies that are less invasive, less expensive, widely and readily available, and more acceptable to patients than venography. For patients with symptoms s...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199909000-00001
更新日期:1999-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Early T-cell precursor (ETP) leukaemias have been recently recognized as a form of T-cell acute lymphoblastic leukaemia (T-ALL) with a poor prognosis. The purpose of this review is to outline the most recent advances in the biology, genetics and prognostic significance of this aggressive disease. REC...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3283623c61
更新日期:2013-07-01 00:00:00
abstract:PURPOSE OF REVIEW:There are three kindlin family members in vertebrates, which have high-sequence homology and a common organization signature with a C-terminal 4.1, ezrin, radixin, moesin (FERM) domain bisected by a pleckstrin-homology domain. Although the cell and tissue distributions of the three kindlins differ, th...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32832ea389
更新日期:2009-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Lymphocyte trafficking is regulated by adhesion molecules mediating the initial shear-resistant binding of circulating cells to target tissue endothelium (Step 1). This review focuses on the current and emerging perspectives of the biology of these 'homing receptors.' RECENT FINDINGS:The conventional...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/01.moh.0000177827.78280.79
更新日期:2005-11-01 00:00:00
abstract::Gene transfer has allowed a number of biologic issues in the therapy of hematologic malignancy to be addressed. In autologous bone marrow transplantation, gene marking studies have shown that infused marrow contributes to relapse in acute myeloid leukemia, neuroblastoma, and chronic myeloid leukemia. In addition, doub...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199502060-00004
更新日期:1995-11-01 00:00:00
abstract::Much of our understanding of the organization of the cells that comprise the hematopoietic system and the cellular and molecular mechanisms that regulate their development is derived from mouse models. However, knowledge of the human hematopoietic system and identification of human stem cells have, until recently, bee...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199603060-00002
更新日期:1996-11-01 00:00:00
abstract:PURPOSE OF THE REVIEW:Monitoring for residual leukemic burden is an integral part of ongoing evaluation in chronic myeloid leukemia. With high rates of complete cytogenetic response induced by imatinib and other tyrosine kinase inhibitors, exploring refinements in current methods of minimal residual disease monitoring ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3282f42898
更新日期:2008-03-01 00:00:00
abstract::The Epstein-Barr virus is a ubiquitous human herpesvirus that is associated with an increasing number of human malignancies. Among these are Epstein-Barr virus-associated lymphoproliferative diseases in immunocompromised patients, a spectrum of mainly B-cell diseases that range from polyclonal lymphoproliferative dise...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199901000-00005
更新日期:1999-01-01 00:00:00
abstract::Coagulation preserves the homeostasis of internal body fluids against life-threatening blood losses. Although generally viewed as a regulated enzymatic cascade, this mechanism depends on the participation of vascular cells. Leukocytes, in particular, have evolved a formidable machinery to initiate and amplify blood cl...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199502010-00006
更新日期:1995-01-01 00:00:00
abstract:PURPOSE OF REVIEW:Risk assessments for transmission of variant Creutzfeldt-Jakob disease predicted that leukocyte reduction would be inefficient at preventing transmission of the disease by blood transfusion. Nevertheless, approximately 14 years ago, a significant proportion of European countries decided to implement l...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000101
更新日期:2015-01-01 00:00:00
abstract:PURPOSE OF REVIEW:The transmembrane protein tissue factor (TF), the initiator of the extrinsic coagulation cascade and a risk factor for thrombotic disease, largely resides on the cell surface in an inactive, encrypted conformation. Whereas TF procoagulant activation, or decryption, is closely associated with the expos...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32834981de
更新日期:2011-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Hematopoietic cell transplantation offers potentially curative therapy for patients with myelodysplastic syndrome. The median patient age at diagnosis, however, is about 70 years, which has limited the application of conventional hematopoietic cell transplantation. In addition, the optimum timing of t...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/01.moh.0000208466.63861.9f
更新日期:2006-03-01 00:00:00
abstract::The advent of better diagnostic tools, molecular techniques, and cytokine therapies have come together at the end of the 20th century to provide an improved outlook for patients with autoimmune neutropenia. Severe chronic neutropenia is no longer idiopathic in most cases, and growth factor therapy can be safely offere...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-200105000-00007
更新日期:2001-05-01 00:00:00
abstract::Despite the reliance on platelet transfusion support in patients receiving myeloablative therapy, controversies surround platelet transfusion practices. These include the appropriate platelet dose and the threshold at which prophylactic platelet transfusions will be most effective. These issues bear directly on patien...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199911000-00015
更新日期:1999-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Deficiency of antithrombin, protein C, and protein S increases the risk of a first venous thromboembolism (VTE) by at least 10-fold and is rare (i.e., <0.5% of population), whereas factor V Leiden and the prothrombin G20210A gene increase this risk by 2-5-fold and are common (2-5% of whites). Antiphos...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e328356745b
更新日期:2012-09-01 00:00:00
abstract:PURPOSE OF REVIEW:The present review elucidates the potentials of recombinant blood group proteins (BGPs) for red blood cell (RBC) antibody detection and identification in pretransfusion testing and the achievements in this field so far. RECENT FINDINGS:Many BGPs have been eukaryotically and prokaryotically expressed ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3283319a06
更新日期:2009-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Despite parenteral artesunate therapy, the fatality rate of cerebral malaria remains high. Adjunctive therapy targeting the underlying pathophysiology of cerebral malaria may further improve the clinical outcome. Endothelial activation and dysfunction is a central process in the pathogenesis of cerebr...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e328345a4cf
更新日期:2011-05-01 00:00:00
abstract:PURPOSE OF REVIEW:The role of bone morphogenetic proteins (BMPs) in vasculogenesis is still not well understood, despite many recent developments in this area of research. In this review, we discuss the most recent studies that identify new critical mechanisms through which BMP signaling acts with a focus on angiogenes...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32832a07d6
更新日期:2009-05-01 00:00:00
abstract:PURPOSE OF REVIEW:The discovery of JAK2V617F and other JAK-STAT-activating mutations in BCR-ABL1-negative myeloproliferative neoplasms (MPN) has led to the development of small-molecule ATP-mimetics that inhibit wild-type and mutant JAK. Here, we review the current experience with JAK inhibitors used for the treatment ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3283439964
更新日期:2011-03-01 00:00:00