Abstract:
INTRODUCTION:Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathy (TMA), characterized by micro-angiopathic hemolytic anemia, thrombocytopenia, and renal failure. In more than half of cases, genetic defects leading to overactivation of the alternative complement system have been identified. In this study, we investigated genetic defects in Korean adult patients with aHUS. MATERIALS AND METHODS:Sixty-six Korean adult patients with aHUS were ascertained from the Korean TMA Registry. Genetic variants of 15 aHUS-related genes (eight core genes [CFH, CFB, CFI, CD46, C3, THBD, PLG, and DGKE] and seven candidate genes [CFP, C4BPA, and CHFR1-5]) were analyzed from exome sequencing data. Multiplex ligation-dependent probe amplification of CFH and related genes was performed to detect hybrid genes or large deletions. RESULTS:Thirty patients (45%) had at least one aHUS-related variant (s) in eight core genes (total 40 variant alleles). The most frequently affected gene was CFH (13/40, 32%), followed by THBD (8/40, 20%) and CD46 (7/40, 18%). The two most common variants were Asp486Tyr of THBD (N = 7) and Tyr1058His-Val1060Leu of CFH (N = 5, linked on the same allele), accounting for 30% (12/40). In seven candidate genes, 19 variants were detected. When combined, 40 patients (61%) had at least one variant in 15 core or candidate genes. No patients had anti-CFH Ab or hybrid gene/CFHR1 homozygous deletions. CONCLUSIONS:The genetic profile of Korean adult aHUS was unique with recurrent missense variants, demonstrating ethnicity- and age-dependent differences in the genetic background of aHUS.
journal_name
Thromb Resjournal_title
Thrombosis researchauthors
Yun JW,Oh J,Lee KO,Lee SJ,Kim JO,Kim NK,Kim JS,Koh Y,Yoon SS,Yhim HY,Jo SK,Park Y,Lee JE,Park J,Lee JW,Kim SH,Kim HJ,Oh D,Korean TTP Registry investigators.,aHUS working group.doi
10.1016/j.thromres.2020.06.016subject
Has Abstractpub_date
2020-10-01 00:00:00pages
45-53eissn
0049-3848issn
1879-2472pii
S0049-3848(20)30258-9journal_volume
194pub_type
杂志文章abstract:INTRODUCTION:Ticagrelor and prasugrel are recommended as first line therapy in patients with acute coronary syndromes (ACS). However, patients with anemia are commonly treated with clopidogrel in routine clinical practice. The RENAMI registry (REgistry of New Antiplatelet therapy in patients with acute Myocardial Infar...
journal_title:Thrombosis research
pub_type: 杂志文章,多中心研究
doi:10.1016/j.thromres.2018.05.024
更新日期:2018-07-01 00:00:00
abstract::The clinical feature in patients with congenital factor VII deficiency is in part dependent on the underlying genetic defect, but the mechanisms influencing the genotype-phenotype correlation remain to be fully elucidated. In addition, thromboembolic events have been reported. Compensatory mechanisms involving vitamin...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(00)00410-2
更新日期:2001-03-15 00:00:00
abstract:INTRODUCTION:It has been widely accepted that genetic factors were the major sources of the variation in warfarin dose. This study is intended to investigate whether the 3261G>A variation in GGCX gene influences stable warfarin dose in Chinese patient population. MATERIALS AND METHODS:A total of 217 patients with stab...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2010.10.027
更新日期:2011-02-01 00:00:00
abstract::Fluorescein Dextran (FD) was shown to be transported at increased rates through partially denuded endothelial monolayer. Platelet binding to the partially denuded monolayer lowered transport rates to those comparable with intact endothelium. Inhibition of transport by platelet binding was not affected by the addition ...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(92)90191-c
更新日期:1992-05-01 00:00:00
abstract::Thromboangiitis obliterans (TAO), or Buerger's disease, is a segmental occlusive inflammatory disorder of the arteries and veins, and etiopathogenesis is still obscure. In the present study we investigated the prevalence of prothrombin 20210 G-->A, factor V 1691 G-->A (Factor V Leiden), and factor V 4070 A-->G (His 12...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(00)00310-8
更新日期:2000-11-01 00:00:00
abstract:BACKGROUND:Use of antiplatelet therapy in combination with oral anticoagulants remains controversial. The purpose of this article is to review current consensus recommendations for antithrombotic therapy, to evaluate risks for bleeding among patients taking combination antithrombotic therapy, and lastly to review singl...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/j.thromres.2008.08.011
更新日期:2008-01-01 00:00:00
abstract::Ovarian hyperstimulation syndrome (OHSS) affects 5% of IVF cycles and incurs a 100-fold increase in risk of venous thrombosis over natural conceptions. Identification of women at risk of OHSS can be achieved using antral follicle count (AFC) and anti-Müllerian hormone (AMH). For those women with a high AFC or AMH comb...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/S0049-3848(13)00023-6
更新日期:2013-01-01 00:00:00
abstract::Adenosine is an endogenous antiaggregating substance that influences the platelet responses through specific A-type receptors that activate adenylate cyclase increasing the levels of 3',5'-cyclic adenosine monophosphate (cAMP). In this study, we investigated whether adenosine can also influence the levels of 3',5'-cyc...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(01)00412-1
更新日期:2002-01-01 00:00:00
abstract::Resveratrol (3, 4', 5-trihydroxystilbene), a natural polyphenol, is found in some plants that are used in human nutrition. Grapes are a major source for resveratrol, and a significant amount can also be found in red wine. Several experimental studies have demonstrated biological properties of resveratrol, especially i...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(02)00273-6
更新日期:2002-08-15 00:00:00
abstract:BACKGROUND:The Clauss fibrinogen method and thrombin clotting time (TCT) are still routinely used in patients with cirrhosis to define fibrinogen concentration and clotting potential. The thromboelastometric functional fibrinogen FIBTEM assay evaluates the strength of fibrin-based clots in whole blood, providing inform...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2015.04.003
更新日期:2015-06-01 00:00:00
abstract::A dimorphism in PROS1 gene (c.A2,001G, p.Pro667Pro) has been associated with significantly reduced levels of both free and total protein S in carriers of the GG genotype. It is not known how the GG genotype could influence PS levels in normals, whether it could influence the levels of protein S in carriers of mutation...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2006.10.014
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:Edoxaban is an oral, once-daily direct factor Xa (FXa) inhibitor. Although rapidly cleared, strategies to reverse edoxaban-mediated effects on anticoagulation are needed in cases of excessive bleeding or emergency. This study evaluated the effect of two prohemostatic agents, recombinant factor VIIa (rFVIIa...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2014.07.036
更新日期:2014-10-01 00:00:00
abstract:INTRODUCTION:Vitamin K antagonists are often used for anticoagulant treatment in hip fracture patients. The optimal handling with such anticoagulants is unclear. We aimed to determine when anticoagulation reversal occurred after vitamin K administration and how often prothrombin complex concentrates (PCCs) were adminis...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2013.10.031
更新日期:2014-01-01 00:00:00
abstract:INTRODUCTION:Warfarin is the most widely prescribed vitamin K antagonist and in the United States and Europe more than 10 million people are currently in long-term oral anticoagulant treatment. This study aims to retrospectively validate a dynamic statistical model providing dosage suggestions to patients in warfarin t...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2013.12.042
更新日期:2014-03-01 00:00:00
abstract::Heat treatment is employed to diminish the transmission of hepatitis when blood products are administered. It is possible that such a procedure could reduce the biological activity of the proteins and induce changes in structure and aggregation state. We have therefore made in vitro and pharmacokinetic studies of heat...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(87)90435-x
更新日期:1987-12-15 00:00:00
abstract::Using an ACL 300R coagulometer (Instrumentation Laboratory) we assessed the clinical usefulness of a new method to measure PS activity (PS:Act), based on the prolongation of prothrombin time of a mixture of diluted plasma sample, PS depleted plasma previously incubated with Protac for protein C activation, bovine thro...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(91)90065-5
更新日期:1991-12-15 00:00:00
abstract::Carotid artery dissections are the second leading cause of stroke in young adults. The hemostatic response to a dissection involves exposure of the subendothelium to the intravascular environment. Platelet activation/aggregation superimposed by secondary coagulation cascade activity attempts to heal the injury. Failur...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/j.thromres.2011.06.024
更新日期:2011-10-01 00:00:00
abstract::Patients with the nephrotic syndrome are at increased risk of developing venous and arterial thromboembolism, the most common of which is renal vein thrombosis. There are several unanswered or controversial issues relating to the nephrotic syndrome and thromboembolism, which include the mechanism of thromboembolism, a...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/j.thromres.2005.03.030
更新日期:2006-01-01 00:00:00
abstract::Eight patients with femoro-popliteal or sural DVT, confirmed by phlebography, were treated with intravenous Desmin (LMW-dermatan sulphate): on the first day, after an initial i.v. injection of 400 mg, all patients received an infusion of 800 mg in 500 ml of saline, during 24 hours; this infusion was repeated in each o...
journal_title:Thrombosis research
pub_type: 临床试验,杂志文章
doi:10.1016/s0049-3848(96)00207-1
更新日期:1996-12-15 00:00:00
abstract::Approximately one-fifth of all cases of venous thromboembolism (VTE) are related to cancer. VTE complications may have a substantial impact on prognosis, quality of life and care in patients with cancer. Patients with cancer-related VTE are at increased risk of developing recurrent VTE compared to patients without can...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/S0049-3848(20)30409-6
更新日期:2020-07-01 00:00:00
abstract:BACKGROUND:Serious bleeding is a frequent and feared treatment complication in patients treated with oral anticoagulants (OACs). Levels of von Willebrand factor (VWF) antigen have been linked to the risk of bleeding complications, mortality, and cardiovascular events. OBJECTIVES:In this longitudinal cohort study of ev...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2015.08.016
更新日期:2015-11-01 00:00:00
abstract::Intra-ventricular hemorrhage (IVH) occurs predominantly in very low birth weight premature infants. Survivors of severe IVH frequently experience long-term consequences including major neurological deficits. Advances in neonatal and obstetric care in the last decades, have led to a steady decline in mortality and in t...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/S0049-3848(11)70032-9
更新日期:2011-02-01 00:00:00
abstract::The role of Protein C in combined factor V/VIII deficiency was examined by reducing the Protein C concentration using warfarin therapy in a patient with the combined deficiency. The factor VIII deficiency was like Hemophilia-A, with deficiency of VIII:C and VIII:C(Ag), but normal VIIIR:Ag and VIIIR:cof. The factor V d...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(84)90188-9
更新日期:1984-12-15 00:00:00
abstract::The use of oral contraceptives (OCs) has been associated with vascular complications. The mechanism(s) by which OCs predispose to thrombotic events remains unclear. Recent studies have demonstrated that postmenopausal (PM) women who take estrogen replacement therapy (ERT) have a decreased incidence of myocardial infar...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(93)90043-n
更新日期:1993-01-15 00:00:00
abstract::Venous thromboembolism (VTE) affects approximately 1 per 1000 persons annually. Although patients are increasingly treated with direct oral anticoagulants, many patients continue to be anticoagulated with vitamin K antagonists (VKA). The most important adverse events during VKA treatment, bleeding and the risk of recu...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2019.03.022
更新日期:2019-06-01 00:00:00
abstract:INTRODUCTION:Inherited abnormalities of fibrinogen (FG) are rare coagulation disorders divided into two types: quantitative abnormalities (afibrinogenemia and hypofibrinogenemia) or qualitative abnormalities (dysfibrinogenemia and hypo-dysfibrinogenemia) of circulating fibrinogen. In particular, congenital afibrinogene...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2016.04.016
更新日期:2016-07-01 00:00:00
abstract::Practice variation, the differences in clinical management between physicians, is one reason why patient outcomes may differ. Identifying factors that contribute to practice variation in areas of clinical uncertainty or equipoise may have implications for understanding and improving patient care. To discern what facto...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2017.09.026
更新日期:2017-11-01 00:00:00
abstract:INTRODUCTION:Association between ADAMTS13 levels and cardiovascular events has been described recently. However, no genetic study of ADAMTS13 in coronary patients has been described. MATERIALS AND METHODS:Based on related populations frequencies and functional studies, we tested three ADAMTS13 polymorphisms: C1342G (Q...
journal_title:Thrombosis research
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.thromres.2009.03.008
更新日期:2010-01-01 00:00:00
abstract::Effects of Ca2+ on phospholipid methylation in rabbit platelet membranes were studied using S-adenosyl-L-[3H-methyl]methionine as a substrate. The methylation was inhibited to 30% of the basal activity with 100 microM Ca2+. The inhibition was completely counteracted by various calmodulin antagonists. Their concentrati...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(83)90259-1
更新日期:1983-12-01 00:00:00
abstract::Central venous catheters (CVC) have revolutionized the care of patients requiring long-term venous access. With increasing use of CVCs, the incidence of catheter-related thrombosis (CRT) has been on the rise. CRT constitutes 10% of all deep venous thromboses (DVT) in adults and 50-80% of all DVTs among children. The i...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/j.thromres.2020.01.017
更新日期:2020-03-01 00:00:00