2,772 results match your criteria Antithrombin Deficiency


AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2-CDG.

Ann Neurol 2019 Mar 14. Epub 2019 Mar 14.

Genetic Medicine Department and Pediatric Institute of Rare Diseases, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.

Objective: Phosphomannomutase deficiency (PMM2-CDG) causes cerebellar syndrome and stroke-like episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested. Read More

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http://dx.doi.org/10.1002/ana.25457DOI Listing
March 2019
1 Read

Clinical outcomes after direct and indirect surgical venous thrombectomy for inferior vena cava thrombosis.

J Vasc Surg Venous Lymphat Disord 2019 Mar 7. Epub 2019 Mar 7.

Department of Vascular and Endovascular Surgery, Heinrich-Heine University, Düsseldorf, Germany.

Objective: Inferior vena cava thrombosis is rare, but patients are at high risk for development of a post-thrombotic syndrome (PTS) in the long term. Surgical approaches include indirect transfemoral venous thrombectomy (iTFVT) and direct open venous thrombectomy (dOVT). This study reports patient outcomes after iTFVT and dOVT for inferior vena cava thrombosis covering a 25-year follow-up period. Read More

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http://dx.doi.org/10.1016/j.jvsv.2018.11.005DOI Listing
March 2019
1 Read

Portal Vein Thrombosis in a Patient with Hereditary Antithrombin Deficiency.

Intern Med 2019 Feb 25. Epub 2019 Feb 25.

Department of Internal Medicine, Shonan East General Hospital, Japan.

Portal vein thrombosis (PVT) has been reported in many patients with and without liver cirrhosis. The portal vein is a rare site of thrombosis, and various conditions can predispose an individual to PVT. Among those conditions, hereditary thrombophilia has been increasingly reported recently. Read More

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http://dx.doi.org/10.2169/internalmedicine.2295-18DOI Listing
February 2019
1 Read

High detection rates of antithrombin deficiency and antiphospholipid syndrome in outpatients aged over 50 years using the standardized protocol for thrombophilia screening.

Thromb Res 2019 Feb 11;176:67-73. Epub 2019 Feb 11.

Krakow Center for Medical Research and Technology, John Paul II Hospital, Krakow, Poland; Institute of Cardiology, Jagiellonian University Medical College, Krakow, Poland. Electronic address:

Introduction: Thrombophilia screening has limited detection efficiency. We assessed the detection rate when a standardized approach to thrombophilia-screened outpatients was used.

Methods: We analyzed 1185 patients (36. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.02.008DOI Listing
February 2019
2 Reads

Thrombophilia, risk factors and prevention.

Expert Rev Hematol 2019 Mar 26;12(3):147-158. Epub 2019 Feb 26.

a Haemorrhagic and Thrombotic Diseases Unit, Department of Medicine (DIMED) , Padova University Hospital , Padova , Italy.

Introduction: Fifty-three years after the first description of an inherited prothrombotic condition (antithrombin deficiency), our knowledge on hereditary and acquired causes of hypercoagulability that can predispose carriers to venous thromboembolism (VTE) has greatly improved. Areas covered: Main causes of hereditary thrombophilia are summarized alongside new prothrombotic mutations recently discovered. The main causes of acquired thrombophilia, and namely, antiphospholipid antibody syndrome and hyperhomocysteinemia, are also discussed together with other common acquired prothrombotic states characterized by an increase of procoagulant factors and/or a decrease of natural anticoagulants. Read More

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http://dx.doi.org/10.1080/17474086.2019.1583555DOI Listing
March 2019
1 Read

Maintaining extraembryonic expression allows generation of mice with severe tissue factor pathway inhibitor deficiency.

Blood Adv 2019 Feb;3(3):489-498

Division of Pediatric Pathology, Department of Pathology.

Tissue factor pathway inhibitor (TFPI) is a serine protease with multiple anticoagulant activities. The Kunitz1 (K1) domain of TFPI binds the active site of factor VIIa and is required for inhibition of tissue factor (TF)/factor VIIa catalytic activity. Mice lacking TFPI K1 domain die in utero. Read More

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http://dx.doi.org/10.1182/bloodadvances.2018018853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373739PMC
February 2019
2 Reads

SERPINC1 variants causing hereditary antithrombin deficiency in a Danish population.

Thromb Res 2019 Mar 31;175:68-75. Epub 2019 Jan 31.

Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark. Electronic address:

Introduction: Antithrombin deficiency is associated with increased risk of venous thromboembolism (VTE). We aimed to identify variants causing antithrombin deficiency in a Danish population.

Materials And Methods: We performed Sanger sequencing and, in relevant cases, multiplex ligation-dependent probe amplification analyses, in 46 individuals (23 index cases) with and 9 relatives without antithrombin deficiency. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.01.022DOI Listing
March 2019
3 Reads

Effect of multiple thrombophilic gene mutations on uterine artery blood flow in nonpregnant recurrent pregnancy loss patients: are we searching enough?

J Matern Fetal Neonatal Med 2019 Jan 31:1-7. Epub 2019 Jan 31.

c Fetus Prenatal Medicine Center , Istanbul , Turkey.

Objective: To investigate whether multiple thrombophilic mutations had a significant effect on uterine artery blood flow of nonpregnant recurrent pregnancy loss (RPL) patients.

Materials And Methods: Among 71 RPL patients, FV Leiden (FV), prothrombin G20210A (PTGM) and MTHFR mutations, deficiency of protein S, protein C and antithrombin III (AT3), association of Val34Leu polymorphism of the FXIII (FXIII), 4G/5G polymorphism of plasminogen activator inhibitor (PAI), -455-G/A polymorphism of β-fibrinogen (fibrinogen), and HPA-1 a/b L33P polymorphism of GPIIIa (GPIIIa) genes were investigated. Doppler flow measurements of RPL patients and healthy controls were performed at mid-luteal phase. Read More

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http://dx.doi.org/10.1080/14767058.2019.1569618DOI Listing
January 2019
1 Read

Laboratory Diagnostics in Thrombophilia.

Hamostaseologie 2019 Feb 31;39(1):49-61. Epub 2019 Jan 31.

Department of Hematology and Oncology, Internal Medicine III, University Hospital Regensburg, Regensburg, Germany.

A thrombophilic disorder is a hereditary or acquired condition that increases the risk of thrombosis. The most common hereditary thrombophilias that predispose to venous thrombosis in the Caucasian population are the heterozygous forms of the factor V Leiden and prothrombin G20210A mutation that are generally detected by direct DNA genotyping. Immunologic antigen assays and chromogenic or clot-based activity assays are used to identify deficiencies in the natural coagulation inhibitors antithrombin, protein C and protein S. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1677840
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http://dx.doi.org/10.1055/s-0039-1677840DOI Listing
February 2019
13 Reads

Recurrent stroke: the role of thrombophilia in a large international pediatric stroke population.

Haematologica 2019 Jan 24. Epub 2019 Jan 24.

Institute of Clinical Chemistry, University Hospital Kiel-Lübeck, Germany;

Risk factors for arterial ischaemic stroke in children include vasculopathy and prothrombotic risk factors but their relative importance to recurrent stroke is uncertain. Data on recurrent stroke from the databases held in Canada (Toronto), Germany (Kiel-Lubeck/Munster), and UK (London/Southampton) were pooled. Data were available from 894 patients aged 1 month to 18 years at first stroke (median age 6 years) with a median follow-up of 35 months. Read More

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2018.211433DOI Listing
January 2019
8 Reads

Monitoring of heparins in antithrombin-deficient patients.

Thromb Res 2019 Mar 15;175:8-12. Epub 2019 Jan 15.

Department of Haematology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

Introduction: Heparins exert their anticoagulant effect through activation of antithrombin. Whether antithrombin deficiency leads to clinically relevantly reduced anti-Xa activity of heparins is unknown. We investigated the relation between antithrombin deficiency and anti-Xa activity measurements of plasma samples spiked with unfractionated heparin (UFH) or low-molecular-weight heparin (LMWH). Read More

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http://dx.doi.org/10.1016/j.thromres.2019.01.007DOI Listing
March 2019
4 Reads

[Gene therapy of haemophilia - has the cure come within reach?]

Postepy Biochem 2018 12;64(4):318-322

Instytut Immunologii i Terapii Doświadczalnej im. Ludwika Hirszfelda PAN, Wrocław.

Haemophilia is a bleeding disorder (usually congenital) caused by the deficiency of coagulation factor VIII (haemophilia A) or IX (haemophilia B). The genes encoding factors VIII and IX are located on the X chromosome, so the symptoms of congenital haemophilia A and B occur predominantly in males. Recurring episodes of spontaneous bleeding into joints are the main symptom of haemophilia, which lead to haemophilic artropathy. Read More

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http://dx.doi.org/10.18388/pb.2018_145DOI Listing
December 2018
9 Reads

Ménétrier's disease presenting as recurrent unprovoked venous thrombosis: a case report.

J Med Case Rep 2019 Jan 17;13(1):14. Epub 2019 Jan 17.

University of Cincinnati College of Medicine, Cincinnati, OH, 45219, USA.

Background: Acquired thrombophilia is a potential sequela of malignancy, chronic inflammation, and conditions characterized by severe protein deficiency (for example, nephrotic syndrome, protein-losing enteropathy). As such, venous thrombosis is often a feature, and occasionally a presenting sign, of systemic disease. Ménétrier's disease is a rare hyperplastic gastropathy that may lead to gastrointestinal protein loss and hypoalbuminemia. Read More

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http://dx.doi.org/10.1186/s13256-018-1952-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335789PMC
January 2019
6 Reads

Utility of current thrombophilia screening in young patients with stroke and TIA.

Stroke Vasc Neurol 2018 Dec 12;3(4):231-236. Epub 2018 Sep 12.

Hyper-acute Stroke Unit, University College London Hospitals NHS Foundation Trust, London, UK.

Introduction: Approximately 40% of strokes in young adults are cryptogenic. The diagnostic yield of thrombophilia screening remains controversial. We aimed to determine utility of current thrombophilia testing for young patients with stroke and transient ischaemic attack (TIA). Read More

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http://dx.doi.org/10.1136/svn-2018-000169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312074PMC
December 2018
1 Read

Sticky Platelet Syndrome: 35 Years of Growing Evidence.

Semin Thromb Hemost 2019 Feb 10;45(1):61-68. Epub 2019 Jan 10.

Department of Haematology and Transfusion Medicine, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovakia.

Since the identification of antithrombin deficiency by Egeberg in 1956, ongoing research in prothrombotic defects continues to progress. Interestingly, past research has predominantly focused on coagulation factors and not on other components of the hemostatic system. The possible role of platelet function defects in the development of thrombotic events was suggested for the first time in the late 1970s, when an increased platelet adhesiveness and aggregation after epinephrine (EPI) and adenosine diphosphate (ADP) was found in a group of patients with unexplained transient ischemic attack. Read More

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http://dx.doi.org/10.1055/s-0038-1676581DOI Listing
February 2019
1 Read

A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.

Medicine (Baltimore) 2019 Jan;98(1):e13999

Department of Vascular Surgery, The Second Xiangya Hospital of Central South University.

Rationale: Deep vein thrombosis (DVT) is the formation of a blood clot formed in the deep veins of the lower limbs. Known genetic factors of DVT include deficiencies of antithrombin (AT), protein C, protein S, factor V Leiden mutation, and prothrombin G20210A mutation. Here, a 5-generation Chinese family with inherited DVT was recruited for genetic analysis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344114PMC
January 2019
10 Reads

MPI-CDG with transient hypoglycosylation and antithrombin deficiency.

Haematologica 2019 Feb 13;104(2):e79-e82. Epub 2018 Dec 13.

Institute of Cardiology, Jagiellonian University Medical College, John Paul II Hospital, Kraków, Poland.

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http://dx.doi.org/10.3324/haematol.2018.211326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355499PMC
February 2019
4 Reads

[Thrombophilia in systemic lupus erythematosus: A case-control study].

J Med Vasc 2018 Dec 31;43(6):347-353. Epub 2018 Oct 31.

Service de médecine interne, CHU la Rabta de Tunis, rue Jbel Lakhdar,La Rabta Jebbari, 1007 Tunis, Tunisie.

Introduction: To investigate the thrombotic tendency in patients with systemic lupus erythematosus (SLE) by evaluating congenital and acquired abnormalities with an increased risk of thrombosis.

Patients And Methods: A total of 53 patients with SLE were included in the study. Fifty-three healthy controls paired by age and sex were assessed. Read More

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http://dx.doi.org/10.1016/j.jdmv.2018.09.001DOI Listing
December 2018
3 Reads

High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Gene 2019 Mar 20;687:280-288. Epub 2018 Nov 20.

Gazi University Faculty of Medicine, Department of Pediatric Metabolic Disorders, Ankara, Turkey; Gazi University Faculty of Medicine, Department of Pediatric Genetic Disorders, Ankara, Turkey. Electronic address:

Fabry disease results from deficiency of the lysosomal enzyme alpha-galactosidase A. The families of 11 index cases were screened by enzyme and molecular assays. Further clinical and laboratory investigations were carried out in all cases. Read More

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http://dx.doi.org/10.1016/j.gene.2018.11.054DOI Listing
March 2019
8 Reads

The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications.

Thromb Res 2019 01 7;173:12-19. Epub 2018 Nov 7.

Division of Clinical Laboratory Research, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

Background: Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the SERPINC1 gene. The most common clinical presentation in AT deficient patients includes venous thrombosis and pulmonary embolism, while the association of AT deficiency and its effect on the development of pregnancy complications has been less studied. The aim of our research was to evaluate the effect of AT deficiency types, determined by genotyping, on pregnancy outcomes. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.11.006DOI Listing
January 2019
5 Reads

Safe childbirth for a type 1 antithrombin-deficient woman with novel mutation in the SERPINC1 gene undergoing antithrombin concentrate therapy.

Blood Coagul Fibrinolysis 2019 Jan;30(1):47-51

Department of Hematology, Clinical Immunology and Infectious Diseases.

: Inherited antithrombin (AT) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I AT deficiency and identified the causative mutation; a novel c.7430A>G missense mutation in the SERPINC1 gene in which tyrosine was substituted for cysteine at the 292nd amino acid. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000785DOI Listing
January 2019
12 Reads

Alterations of anticoagulant proteins and soluble endothelial protein C receptor in thalassemia patients of Chinese origin.

Thromb Res 2018 12 18;172:61-66. Epub 2018 Oct 18.

Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Province 530021, China. Electronic address:

Background: Thalassemia is characterized by a hypercoagulable state in which the protein C (PC) pathway controls thrombosis. We investigated changes in PC, protein S (PS), antithrombin III (AT III) and soluble endothelial protein C receptor (sEPCR) in thalassemia.

Methods: A group of 129 patients with β-thalassemia major (β-TM), β-thalassemia intermedia (β-TI), α-thalassemia intermedia (α-TI) and combined α-/β-thalassemia (α + β-thal) were compared with 32 gender- and age-matched controls. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.10.016DOI Listing
December 2018
3 Reads

Rare thrombophilic conditions.

Ann Transl Med 2018 Sep;6(17):342

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

Thrombophilia, either acquired or inherited, can be defined as a predisposition to developing thromboembolic complications. Since the discovery of antithrombin deficiency in the 1965, many other conditions have been described so far, which have then allowed to currently detect an inherited or acquired predisposition in approximately 60-70% of patients with thromboembolic disorders. These prothrombotic risk factors mainly include qualitative or quantitative defects of endogenous coagulation factor inhibitors, increased concentration or function of clotting proteins, defects in the fibrinolytic system, impaired platelet function, and hyperhomocysteinemia. Read More

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http://dx.doi.org/10.21037/atm.2018.08.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174195PMC
September 2018
8 Reads

Left subclavian and right femoral vein thrombosis in a pregnant patient with antithrombin deficiency.

J Cardiol Cases 2018 Oct 23;18(4):149-151. Epub 2018 Jul 23.

Department of Emergency Medicine, Hiroshima Citizens Hospital, Hiroshima, Japan.

Pregnancy is well-known risk factor for deep vein thrombosis (DVT), which usually occurs during the third trimester and in the left-sided lower extremity. We present a case of left subclavian and right femoral vein thrombosis in a pregnant woman with a gestational age of 10 weeks. A 39-year-old woman visited the emergency department complaining of acute pain and swelling of the left upper arm and right lower extremity. Read More

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http://dx.doi.org/10.1016/j.jccase.2018.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149647PMC
October 2018
4 Reads

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.

Oncotarget 2018 Sep 4;9(69):33202-33214. Epub 2018 Sep 4.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

Nature is always the best inspiration for basic research. A family with severe thrombosis and antithrombin deficiency, the strongest anticoagulant, carried a new mutation affecting the translation-start codon of , the gene encoding antithrombin. Expression of this variant in a eukaryotic cell system produced three different antithrombins. Read More

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http://dx.doi.org/10.18632/oncotarget.26059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145704PMC
September 2018
3 Reads

Genetics of Hypercoagulable and Hypocoagulable States.

Neurosurg Clin N Am 2018 Oct;29(4):493-501

Department of Hematology and Oncology, Loyola University Medical Center, 2160 South First Avenue, Maywood, IL 60153, USA.

Hemostasis is the normal process of blood coagulation in vivo to stop pathologic bleeding. Virchow triad includes venous stasis, hypercoagulability, and vascular injury. Natural anticoagulants include protein C, protein S, and antithrombin. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10423680183086
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http://dx.doi.org/10.1016/j.nec.2018.06.002DOI Listing
October 2018
16 Reads
1.542 Impact Factor

Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35-year-old woman: A case report and genetic study on the pedigree.

Exp Ther Med 2018 Sep 25;16(3):2677-2681. Epub 2018 Jul 25.

Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, P.R. China.

Deficiency of protein C may cause deep venous thrombosis and pulmonary embolism, leading to ischemic stroke. The present study reports on a case of a young adult with recurrent cerebellar infarction due to hereditary heterozygous protein C deficiency and performs a literature review. A 35-year-old Asian woman was admitted t o the Department of Neurology of The First Affiliated Hospital of Guangxi Medical University (Nanning, China) due to right limb paralysis and vomiting. Read More

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http://www.spandidos-publications.com/10.3892/etm.2018.6518
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http://dx.doi.org/10.3892/etm.2018.6518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122579PMC
September 2018
11 Reads

Antithrombin deficiency is associated with mortality and impaired organ function in septic pediatric patients: a retrospective study.

PeerJ 2018 5;6:e5538. Epub 2018 Sep 5.

Department of Sports Medicine, Alpine Medicine and Health Tourism, UMIT - University for Health Sciences, Medical Informatics and Technology, Hall in Tirol, Austria.

Background: Sepsis remains a major problem in intensive care medicine. It is often accompanied by coagulopathies, leading to thrombotic occlusion of small vessels with subsequent organ damage and even fatal multi-organ failure. Prediction of the clinical course and outcome-especially in the heterogeneous group of pediatric patients-is difficult. Read More

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https://peerj.com/articles/5538
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http://dx.doi.org/10.7717/peerj.5538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129139PMC
September 2018
8 Reads

An investigational RNAi therapeutic targeting antithrombin for the treatment of hemophilia A and B.

J Blood Med 2018 22;9:135-140. Epub 2018 Aug 22.

Department of Medicine, University of Pittsburgh, Hemophilia Center of Western Pennsylvania, Pittsburgh, PA, USA,

Fitusiran is an RNA interference therapeutic that targets antithrombin (AT) in the liver and interferes with AT translation by binding and degrading messenger RNA-AT, thereby silencing AT gene expression and preventing AT synthesis. In both preclinical and clinical studies, AT knockdown results in dose-dependent AT lowering when fitusiran is given weekly or monthly subcutaneously. In clinical trials, fitusiran dose escalation has resulted in improved thrombin generation and clinical hemostasis as measured by reduction in annualized bleed rate. Read More

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http://dx.doi.org/10.2147/JBM.S159297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110283PMC
August 2018
3 Reads

It's all in your genes.

Thromb Res 2018 09;169:157

Ottawa Hospital, Box 201, 451 Smyth rd, Ottawa, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2018.08.009DOI Listing
September 2018
23 Reads

Monitoring Fondaparinux in the Setting of Antithrombin Deficiency.

Lab Med 2018 Aug 24. Epub 2018 Aug 24.

Department of Pathology, Keck School of Medicine of the University of Southern California, Los Angeles.

Heparin-induced thrombocytopenia (HIT) is a not-uncommon adverse effect of heparin exposure, with potentially serious and/or fatal thrombotic consequences. Recent studies looking at the off-label use of fondaparinux for HIT show similar efficacy and adverse-effect profiles, as well as improved costs, compared with some commonly used direct thrombin inhibitors. Although routine laboratory monitoring of fondaparinux-specific anti-Xa levels typically is not recommended, we present a case report that suggests fondaparinux monitoring may be needed in patients with hepatic impairment causing acquired antithrombin deficiency. Read More

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http://dx.doi.org/10.1093/labmed/lmy054DOI Listing
August 2018
19 Reads

An Audit of Thrombophilia Testing in Patients with Ischemic Stroke or Transient Ischemic Attack: The Futility of Testing.

J Stroke Cerebrovasc Dis 2018 Nov 22;27(11):3301-3305. Epub 2018 Aug 22.

Department of Pathology, Division of Transfusion Medicine and Hemostasis, University of Texas Southwestern Medical Center, Dallas, Texas. Electronic address:

Objectives: Many patients admitted with an ischemic stroke or transient ischemic attack (TIA) undergo thrombophilia testing. There is limited evidence to support this practice. We examined the effect of thrombophilia testing on management of patients admitted with an ischemic stroke or TIA. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.07.032DOI Listing
November 2018
15 Reads

Prothrombotic markers in Thalassemia major patients: A paradigm shift.

Med J Malaysia 2018 Aug;73(4):185-189

Liaquat National Hospital and Medical College, Department of Biostatics, Karachi, Pakistan.

Background: It is being increasingly recognised that thalassemia major patients, like intermedia, have increased propensity for thromboembolism. Deficiency of natural anticoagulants is more recently defined finding contributing to the hypercoagulable state. The aim this study is to determine natural anticoagulants levels and their correlation with maternal characteristics, haematological and biochemical markers. Read More

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August 2018
17 Reads

Isolation of recombinant human antithrombin isoforms by Cellufine Sulfate affinity chromatography.

J Chromatogr B Analyt Technol Biomed Life Sci 2018 Sep 2;1095:198-203. Epub 2018 Jul 2.

Bio Process Research and Development Laboratories, Production Division, Kyowa Hakko Kirin Co., Ltd., Takasaki, Gunma 370-0013, Japan.

Human antithrombin (hAT) is a major serine protease inhibitor that regulates blood coagulation in human plasma, and it has been applied for the treatment of antithrombin (AT) deficiency and disseminated intravascular coagulation (DIC). In the past, hAT for therapeutic use has been obtained from human plasma; however, hAT can now be sourced from transgenic animals and Chinese hamster ovary (CHO) cells by recombinant technology. The dominant form of hAT in plasma is the α form, which is glycosylated with four oligosaccharides and sialylated at its terminals. Read More

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http://dx.doi.org/10.1016/j.jchromb.2018.07.001DOI Listing
September 2018
3 Reads

Thrombophilia Caused by Beta2-Glycoprotein I Deficiency: In Vitro Study of a Rare Mutation in APOH Gene.

Curr Med Sci 2018 Apr 30;38(2):379-385. Epub 2018 Apr 30.

Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

This study aimed to explore the mechanism of a novel mutation (p.Lys38Glu) in apolipoprotein H (APOH) gene causing hereditary beta2-glycoprotein I (β2GPI) deficiency and thrombosis in a proband with thrombophilia. The plasma level of β2GPI was measured by ELISA and Western blotting, and anti-β2GPI antibody by ELISA. Read More

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http://dx.doi.org/10.1007/s11596-018-1889-yDOI Listing
April 2018
11 Reads

Thrombophilia Associated with Early Post-angioplasty Thrombosis of Dialysis Vascular Access.

Cardiovasc Intervent Radiol 2018 Nov 31;41(11):1683-1690. Epub 2018 Jul 31.

Cardiovascular Center, National Taiwan University Hospital, Hsinchu Branch, Jingo Road, Section 1 Lane 442, No. 25, Hsinchu City, Taiwan.

Aim: Percutaneous transluminal angioplasty (PTA) is widely used as the primary treatment for dialysis vascular access dysfunction. Nonetheless, many patients develop early occlusion after angioplasty. Thus, we investigated the role of thrombophilia in access occlusion within 30 days of angioplasty. Read More

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http://dx.doi.org/10.1007/s00270-018-2046-5DOI Listing
November 2018
2 Reads

[Recommendations for the Use of Indirect and Direct Anticoagulants for Long-Term Prophylaxis after Venous Thromboembolism].

Zentralbl Chir 2018 Oct 27;143(5):526-532. Epub 2018 Jul 27.

Medizinisches Versorgungszentrum für Gefäßmedizin Nürnberg, Deutschland.

In routine clinical work, the dosage of direct oral anticoagulants for long-term maintenance therapy after acute deep vein thrombosis and pulmonary embolism is often made on an individual basis. As two doses are available for the preparations apixaban and rivaroxaban and no separate indication spectra have been specified. The working group of practising vascular physicians and surgeons in Germany has therefore developed this position paper. Read More

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http://dx.doi.org/10.1055/a-0612-8244DOI Listing
October 2018
4 Reads

Defects of splicing in antithrombin deficiency.

Res Pract Thromb Haemost 2017 Oct 14;1(2):216-222. Epub 2017 Jul 14.

Servicio de Hematología y Oncología Médica Hospital Universitario Morales Meseguer Centro Regional de Hemodonación Universidad de Murcia IMIB-Arrixaca Murcia Spain.

Background: There is increasing evidence supporting the relevance of aberrant splicing in multiple disorders. In antithrombin deficiency only 22 intronic mutations affecting splicing sites (7% of mutations) are considered as splicing mutations.

Methods: was analyzed by Sanger sequencing and MLPA in 141 unrelated cases with antithrombin deficiency. Read More

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http://dx.doi.org/10.1002/rth2.12025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058262PMC
October 2017
18 Reads

The genetics of antithrombin.

Thromb Res 2018 09 5;169:23-29. Epub 2018 Jul 5.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia, CIBERER, Spain.

Antithrombin is a key endogenous anticoagulant whose deficiency constitutes a strong risk factor for thrombosis. The study of antithrombin deficiency has generated excellent, and in some cases, surprising results that may be extrapolated to other thrombophilia and genetic disorders. Routine diagnosis of antithrombin deficiency is based on functional assays. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.07.008DOI Listing
September 2018
5 Reads

Non-genetic and genetic risk factors for adult cerebral venous thrombosis.

Thromb Res 2018 09 6;169:15-22. Epub 2018 Jul 6.

Institute of Cardiovascular Research, Royal Holloway, University of London (ICR2UL), Egham, United Kingdom. Electronic address:

Introduction: A wide variety of non-genetic and genetic factors have been shown to associate with increased risk for cerebral venous thrombosis (CVT). However, there is a paucity of risk factor data and conclusions about their impact are often conflicting. Herein, we quantified the associations of non-genetic and genetic risk factors for CVT in adults. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00493848183041
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http://dx.doi.org/10.1016/j.thromres.2018.07.005DOI Listing
September 2018
23 Reads

Overcoming heparin resistance in pregnant women with antithrombin deficiency: a case report and review of the literature.

J Med Case Rep 2018 Jun 16;12(1):169. Epub 2018 Jun 16.

Department of Obstetrics and Gynecology, Democritus University of Thrace, Alexandroupoli, Greece.

Background: The risk of thromboembolic events during pregnancy in patients with antithrombin deficiency is increased. Preventing thromboembolic events during pregnancy in the case of antithrombin deficiency is still a matter of concern.

Case Presentation: We present a case of a 19-year-old primigravida Greek Pomak woman, who was diagnosed as having congenital antithrombin deficiency. Read More

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http://dx.doi.org/10.1186/s13256-018-1711-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004088PMC
June 2018
4 Reads

β-Antithrombin, subtype of antithrombin deficiency and the risk of venous thromboembolism in hereditary antithrombin deficiency: A family cohort study.

Thromb Res 2018 08 2;168:47-52. Epub 2018 Jun 2.

Department of Haematology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

Hereditary antithrombin deficiency is associated with a high incidence of venous thromboembolism (VTE), but VTE risk differs between families. Beta-antithrombin is reported to be the most active isoform of antithrombin in vivo. Whether β-antithrombin activity and subtypes in antithrombin deficiency have impact on VTE risk has not been investigated outside the proband setting. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.06.004DOI Listing
August 2018
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Association of hereditary antithrombin deficiency with intrauterine growth restriction.

Blood Coagul Fibrinolysis 2018 Jul;29(5):442-445

Faculty of medicine, Cairo University, Cairo, Egypt.

: Antithrombin is a major suppressor of thrombin, factor Xa and blood coagulation. Inherited antithrombin deficiency is rare and is considered among the common causes of inherited thrombophilia. The relationship between antithrombin and IUGR, is questionable. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000740DOI Listing
July 2018
4 Reads

Revisiting antithrombin in health and disease, congenital deficiencies and genetic variants, and laboratory studies on α and β forms.

Transfus Apher Sci 2018 Apr 19;57(2):291-297. Epub 2018 Apr 19.

International Consultancy in Blood Components Quality/Safety Improvement, Audit/Inspection and DDR Strategies, London, UK. Electronic address:

Antithrombin [AT] is the main inhibitor for activated plasma coagulation serine esterases, inhibiting thrombin, Factors Xa and IXa, but also Factors XIIa, XIa, VIIa, kallicrein, and plasmin. Its activity is highly enhanced by heparin, through binding to the pentasaccharide sequences, for inhibition of all coagulation proteases, except thrombin, which inhibition requires its additional binding to the heparin polysaccharide chain. However, AT is the major inhibitor of thrombin in the blood circulation. Read More

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http://dx.doi.org/10.1016/j.transci.2018.04.010DOI Listing
April 2018
6 Reads

Role of thrombophilia in splanchnic venous thrombosis in acute pancreatitis.

Ann Gastroenterol 2018 May-Jun;31(3):371-378. Epub 2018 Mar 2.

Department of Radiology (Mandeep Kang), Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Background: Splanchnic venous thrombosis (SVT) is a common vascular complication of acute pancreatitis (AP). We conducted this study to prospectively investigate the frequency, risk factors, and extent of SVT in patients with AP and to evaluate the role of thrombophilia in its causation.

Methods: Patients with AP presenting between January 2015 and June 2016 were prospectively evaluated with contrast-enhanced computed tomography (CT) for the presence of SVT. Read More

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http://dx.doi.org/10.20524/aog.2018.0242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924861PMC
March 2018
6 Reads

Conservative management of neonatal cerebral sinovenous thrombosis with coexisting thrombophilia.

Blood Coagul Fibrinolysis 2018 Jun;29(4):399-403

Division of Pediatric Hematology/Oncology, Department of Pediatrics.

: Neonatal cerebral sinovenous thrombosis (CSVT) comprises approximately 50% of all pediatric-related CSVT. Although guidelines support anticoagulation in pediatric CSVT, the role of anticoagulation in neonatal CSVT remains controversial. This case report details the course of a neonate diagnosed with extensive CSVT and concurrent bilateral thalamic and intraventricular hemorrhage. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000731DOI Listing
June 2018
3 Reads

Strategy for Cardiovascular Surgery in Patients with Antithrombin III Deficiency.

Ann Thorac Cardiovasc Surg 2018 Aug 20;24(4):187-192. Epub 2018 Apr 20.

Department of Cardiovascular Surgery, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.

Antithrombin III (ATIII) deficiency is a rare disorder in which thrombosis can be induced by stimuli that do not usually lead to thrombus formation, including minor injuries and surgery. Therefore, patients with ATIII deficiency undergoing cardiovascular surgery that involves heparinization require careful perioperative management. We experienced five patients with ATIII deficiency who underwent cardiovascular surgery and were managed with ATIII replacement. Read More

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http://dx.doi.org/10.5761/atcs.oa.18-00030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102604PMC
August 2018
4 Reads

Pulmonary embolism presenting with acute abdominal pain in a girl with stable ankle fracture and inherited antithrombin deficiency.

Blood Res 2018 Mar 27;53(1):81-83. Epub 2018 Mar 27.

Department of Pediatrics, Health Science Institute, Gyeongsang National University College of Medicine, Jinju, Korea.

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http://dx.doi.org/10.5045/br.2018.53.1.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899002PMC
March 2018
5 Reads

Evaluation of endogenous thrombin potential among patients with antithrombin deficiency.

Thromb Res 2018 06 7;166:50-53. Epub 2018 Apr 7.

Division of Clinical Laboratory Research, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

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http://dx.doi.org/10.1016/j.thromres.2018.04.004DOI Listing
June 2018
5 Reads