Abstract:
PURPOSE OF REVIEW:Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis and recurrent bacterial infections. It is attributable to mutations in G6PT1, the gene for the glucose-6-phosphate transporter responsible for transport of glucose into the endoplasmic reticulum. Neutropenia in GSD Ib is now frequently treated with granulocyte colony-stimulating factor (G-CSF). We formed a cooperative group to review outcomes of the long-term treatment of GSD Ib patients treated with G-CSF. RECENT FINDINGS:The study enrolled 103 patients (48 men and 55 women), including 47 currently adult patients. All of these patients were treated with G-CSF, starting at a median age of 3.8 years (range 0.04-33.9 years) with a median dose of 3.0 mcg/kg/day (range 0.01-93.1 mcg/kg/day) for a median of 10.3 years (range 0.01-29.3 years). Neutrophils increased in response to G-CSF in all patients (median values before G-CSF 0.2 × 10/l, on G-CSF 1.20 x 10/l). Treatment increased spleen size (before G-CSF, 47%, on treatment on G-CSF 76%), and splenomegaly was the dose-limiting adverse effect of treatment (pain and early satiety). Clinical observations and records attest to reduce frequency of infectious events and the severity of inflammatory bowel symptoms, but fever and recurrent infections remain a significant problem. In the cohort of patients followed carefully through the Severe Chronic Neutropenia International Registry, four patients have developed myelodysplasia or acute myeloid leukemia and we are aware of four other cases, (altogether seven on G-CSF, one never treated with G-CSF). Liver transplantation in five patients did not correct neutropenia. Four patients had hematopoietic stem cell transplantation; two adults and two children were transplanted; one adult and one child survived. SUMMARY:GSD Ib is a complex disorder of glucose metabolism causing severe chronic neutropenia. G-CSF is effective to raise blood neutrophil counts and reduce fevers and infections in most patients. In conjunction with other therapies (salicylates, mesalamine sulfasalazine and prednisone), G-CSF ameliorates inflammatory bowel symptoms, but doses must be limited because it increases spleen size associated with abdominal pain.
journal_name
Curr Opin Hematoljournal_title
Current opinion in hematologyauthors
Dale DC,Bolyard AA,Marrero T,Kelley ML,Makaryan V,Tran E,Leung J,Boxer LA,Kishnani PS,Austin S,Wanner C,Ferrecchia IA,Khalaf D,Maze D,Kurtzberg J,Zeidler C,Welte K,Weinstein DAdoi
10.1097/MOH.0000000000000474subject
Has Abstractpub_date
2019-01-01 00:00:00pages
16-21issue
1eissn
1065-6251issn
1531-7048journal_volume
26pub_type
临床试验,杂志文章,多中心研究abstract:PURPOSE OF REVIEW:The proteome is the pool of proteins expressed at a given time and circumstance. The word 'proteomics' summarizes several technologies for visualization, quantitation and identification of these proteins. Recent advances in these techniques are helping to elucidate platelet processes which are relevan...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32832e9dc6
更新日期:2009-09-01 00:00:00
abstract::Genetic defects of the blood platelet membrane glycoproteins, GPIIb-IIIa (alpha IIb/beta 3; CD41/CD61) and GPIb-V-IX (CD42) are the origin of several rare bleeding disorders, the best known of which are Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease. In Glanzmann's thr...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:
更新日期:1994-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Therapy-related myelodysplastic syndromes and acute myelogenous leukemia (t-MDS/AML) comprise an increasingly common, poor-risk disease cohort without standard treatment options. This review describes available treatments and recent advances that may influence the clinical management of t-MDS/AML. RE...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32835d82e6
更新日期:2013-03-01 00:00:00
abstract:PURPOSE OF REVIEW:Hematopoietic stem cells (HSCs) possess two fundamental characteristics, the capacity for self-renewal and the sustained production of all blood cell lineages. The fine balance between HSC expansion and lineage specification is dynamically regulated by the interplay between external and internal stimu...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000260
更新日期:2016-07-01 00:00:00
abstract:PURPOSE OF REVIEW:While the risks of transfusion-transmitted human immunodeficiency virus, hepatitis C virus, and human T-cell leukemia virus I/II continue to decrease, additional threats to transfusion safety are posed by emerging "new" infectious diseases. RECENT FINDINGS:Following the introduction of nucleic acid t...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-200311000-00003
更新日期:2003-11-01 00:00:00
abstract::Stem cell factor (SCF) is a multipotent growth factor that plays a role in the growth and development of hematopoietic cells, spermatocytes, melanocytes, and mast cells. SCF alone has little direct stimulatory activity on hematopoietic progenitors but acts synergistically with other colony-stimulating factors to poten...
journal_title:Current opinion in hematology
pub_type: 杂志文章
doi:10.1097/00062752-199704030-00001
更新日期:1997-05-01 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:PURPOSE OF REVIEW:The antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized by recurrent thrombosis and/or obstetrical morbidity in the presence of persistently positive antiphospholipid antibodies. Recent insights into the pathogenesis of APS have begun to elucidate pathophysiology and led to...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000067
更新日期:2014-09-01 00:00:00
abstract:PURPOSE OF REVIEW:The increasing use of high throughput sequencing and genomic analysis has facilitated the discovery of new causes of inherited platelet disorders. Studies of these disorders and their respective mouse models have been central to understanding their biology, and also in revealing new aspects of platele...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000525
更新日期:2019-09-01 00:00:00
abstract:PURPOSE OF REVIEW:In addition to its essential role in baseline erythropoiesis, the hormone erythropoietin drives the erythropoietic response to hypoxic stress. A mechanistic understanding of stress erythropoiesis would benefit multiple clinical settings, and may aid in understanding leukemogenesis. RECENT FINDINGS:Th...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3280de2bf1
更新日期:2007-05-01 00:00:00
abstract:PURPOSE OF REVIEW:This article summarizes recent insights into the pathophysiology of immune thrombocytopenic purpura, a disorder in which autoantibodies against cell-specific glycoproteins (GPIIb-IIIa, GPIb-IX and others) accelerate platelet destruction. RECENT FINDINGS:Autoantibodies are produced by a limited number...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3282ba5552
更新日期:2007-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Over the last years, long non-coding RNAs (lncRNAs) have emerged as putative regulators of malignant hematopoietic development. Here, we review recent literature on the involvement of lncRNAs in leukemia, including their role in driving or sustaining disease and their potential impact on diagnosis, cl...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000354
更新日期:2017-07-01 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:Mortality and morbidity associated with leukemia are largely due to frequently occurring cytopenias or the dysfunction of normal blood cells in patients. Our knowledge of how normal blood cells degenerate in response to leukemic cell infiltration has been quite limited. This review summarizes recent f...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000253
更新日期:2016-07-01 00:00:00
abstract::FLT3 is the most frequently mutated gene in cases of acute myelogenous leukemia (AML). About 30 to 35% of patients have either internal tandem duplications (ITDs) in the juxtamembrane domain or mutations in the activating loop of FLT3. FLT3 mutations occur in a broad spectrum of FAB subtypes in adult and pediatric AML...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-200207000-00003
更新日期:2002-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Despite improvements in the achievement of complete remission and progress in the supportive care of adults with acute lymphoblastic leukemia during the last decade, the majority of patients have eventually relapsed with overall survival in adult acute lymphoblastic leukemia of only 30-40%. However, t...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3283034697
更新日期:2008-07-01 00:00:00
abstract:PURPOSE OF REVIEW:The role of a patent foramen ovale (PFO) as a risk factor for ischemic stroke has been established in recent years. However, the best therapeutic option to prevent recurrent events is still controversial, with antithrombotic treatment or transcatheter PFO closure being favored by different clinicians....
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32832d47dd
更新日期:2009-09-01 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: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::The idea that blood in naturally occurring transmissible spongiform encephalopathies is not infectious has imploded in the face of recent transmissions from the blood of naturally occurring scrapie in sheep and of variant Creutzfeldt-Jakob disease in humans. Although donor exclusion criteria ensure that the number of ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/01.moh.0000143393.49202.f0
更新日期:2004-09-01 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:PURPOSE OF REVIEW:This review discusses the rationale, efficacy, and toxicity of a variety of immune approaches being evaluated in the therapy of acute myeloid leukemia (AML) including naked and conjugated monoclonal antibodies, bispecific T-cell engager antibodies, and immune checkpoint blockade via antibodies targeti...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000401
更新日期:2018-03-01 00:00:00
abstract::Platelet glycoprotein (GP) IIb/IIIa receptor antagonists are being used with increasing frequency in the settings of percutaneous coronary interventions and acute ischemic syndromes. The development of bleeding complications following GPIIb/IIIa blockade represents a significant limitation to its effectiveness. Baseli...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199909000-00011
更新日期:1999-09-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim of this short study is to review recently published data bearing on how to resuscitate massive uncontrolled hemorrhage. RECENT FINDINGS:New data inform our understanding of the mechanisms of the acute coagulopathy of trauma, the median time to death of trauma patients with uncontrolled hemorr...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000184
更新日期:2015-11-01 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:Chronic idiopathic and severe congenital neutropenias are rare disorders for which recent discoveries have highlighted mechanisms and consequences. RECENT FINDINGS:An inflammatory bone marrow milieu has been shown to be a major contributor to the pathophysiology of chronic idiopathic neutropenia. Act...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3282f172d3
更新日期:2008-01-01 00:00:00
abstract:PURPOSE OF REVIEW:To evaluate recent findings in the multifaceted pathophysiological mechanisms underlying thrombocytopenia in patients with chronic liver disease and to assess its therapeutic management. RECENT FINDINGS:Antiplatelet antibodies, despite being observed rather frequently in patients with chronic viral l...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32830a9746
更新日期:2008-09-01 00:00:00
abstract:PURPOSE OF REVIEW:The capacity of lithium to induce neutrophilia and increase circulating CD34(+) cells of marrow origin has long been known. Lithium has been the object of hematological investigations for many years, but no definitive use in hematology has yet emerged. RECENT FINDINGS:We review the evidence that lith...
journal_title:Current opinion in hematology
pub_type: 杂志文章,收录出版,评审
doi:10.1097/MOH.0b013e32834da93b
更新日期:2012-01-01 00:00:00
abstract::The bulk of antigens that are presented by major histocompatibility complex (MHC) class I molecules are processed in the cytosol. Therefore, the cellular protein degradation machinery is thought to play a major role in antigen processing. For example, there is clear evidence that the ubiquitin-proteasome pathway, the ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-200101000-00003
更新日期:2001-01-01 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