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antithrombin deficiency

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https://www.readbyqxmd.com/read/28424376/serpinc1-antithrombin-iii-in-kidney-related-diseases
#1
REVIEW
Zeyuan Lu, Feng Wang, Mingyu Liang
The gene SerpinC1 encodes a serine protease inhibitor named antithrombin III (ATIII). This protease demonstrates both anticoagulant and anti-inflammatory action. ATIII is the most important coagulation factor inhibitor, and even minor changes in ATIII can significantly alter the risk of thromboembolism. ATIII can also suppress inflammation via a coagulation-dependent or -independent effect. Moreover, apart from ATIII deficiency, ATIII and its gene SerpinC1 may also be related to many diseases (e.g. hypertension, kidney diseases)...
May 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28409836/platelet-derived-microparticles-regulates-thrombin-generation-via-phophatidylserine-in-abdominal-sepsis
#2
Yongzhi Wang, Su Zhang, Lingtao Luo, Eva Norström, Oscar Ö Braun, Matthias Mörgelin, Henrik Thorlacius
Sepsis is associated with dysfunctional coagulation. Recent data suggest that platelets play a role in sepsis by promoting neutrophil accumulation. Herein, we show that cecal ligation and puncture (CLP) triggered systemic inflammation, which is characterized by formation of IL-6 and CXC chemokines as well as neutrophil accumulation in the lung. Platelet depletion decreased neutrophil accumulation, IL-6 and CXC chemokines formation in septic lungs. Depletion of platelets increased peak thrombin formation and total thrombin generation (TG) in plasma from septic animals...
April 14, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28384443/effect-of-platelet-derived-%C3%AE-thromboglobulins-on-coagulation
#3
Karl Egan, Johanna P van Geffen, Hui Ma, Barry Kevane, Aine Lennon, Seamus Allen, Elaine Neary, Martin Parsons, Patricia Maguire, Kieran Wynne, Richard O' Kennedy, Johan W M Heemskerk, Fionnuala Ní Áinle
BACKGROUND: β-thromboglobulins are derived from the cleavage of the CXC chemokine platelet basic protein and are released in high concentrations by activated platelets. Platelet-derived β-thromboglobulins (βTG) share 70% homology with platelet factor 4 (PF4), another CXC chemokine released by activated platelets. PF4 modulates coagulation by inhibiting heparin-antithrombin interactions, promoting protein C activation, and attenuating the activity of activated protein C. In contrast, the effect of βTG on coagulation is unknown...
March 30, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28361296/women-with-homozygous-at-deficiency-type-ii-heparin-binding-site-hbs-are-at-high-risk-of-pregnancy-loss-and-pregnancy-complications
#4
Julia Kraft, Raute Sunder-Plassmann, Christine Mannhalter, Peter Quehenberger, Gernot Tews, Martin Langer, Ingrid Pabinger
Data regarding outcome and therapy of pregnancies in patients with homozygous antithrombin (AT) deficiency are very rare. We conducted a retrospective, descriptive investigation with emphasis on the obstetric history of eight women with homozygous AT deficiency heparin-binding site (HBS), who had at least one pregnancy. The aim of the study was to get a better insight into the outcome and identify suitable management procedures of pregnancy in this rare disease. All patients suffered from homozygous AT deficiency caused by the mutation c...
March 30, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28352625/inherited-thrombophilia-in-pediatric-venous-thromboembolic-disease-why-and-who-to-test
#5
REVIEW
C Heleen van Ommen, Ulrike Nowak-Göttl
Venous thromboembolic disease in childhood is a multifactorial disease. Risk factors include acquired clinical risk factors such as a central venous catheter and underlying disease and inherited thrombophilia. Inherited thrombophilia is defined as a genetically determined tendency to develop venous thromboembolism. In contrast to adults, acquired clinical risk factors play a larger role than inherited thrombophilia in the development of thrombotic disease in children. The contributing role of inherited thrombophilia is not clear in many pediatric thrombotic events, especially catheter-related thrombosis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28323357/characterisation-of-clotting-factors-anticoagulant-protein-activities-and-viscoelastic-analysis-in-healthy-donkeys
#6
A Perez-Ecija, F J Mendoza
BACKGROUND: Studies have demonstrated differences in commonly measured hemostatic parameters between donkeys and horses. Whether clotting factors, anticoagulant protein activities and thromboelastography parameters also differ between species is still unknown. OBJECTIVES: To characterize hemostatic parameters in healthy donkeys and compare them to those of horses. STUDY DESIGN: Cross-sectional study. METHODS: Clotting Factors (V, VII, VIII, IX, X, XI and XII), and antithrombin III, Protein C and Protein S activities were measured in 80 healthy Andalusian and crossbred donkeys and 40 healthy Andalusian crossbred horses with assays based on human deficient plasmas...
March 21, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28317092/serpinc1-gene-mutations-in-antithrombin-deficiency
#7
René Mulder, F Nanne Croles, André B Mulder, James A Huntington, Karina Meijer, Michaël V Lukens
Existing evidence suggests that in most cases antithrombin deficiency can be explained by mutations in its gene, SERPINC1. We investigated the molecular background of antithrombin deficiency in a single centre family cohort study. We included a total of 21 families comprising 15 original probands and sixty-six relatives, 6 of who were surrogate probands for the genetic analysis. Antithrombin activity and antigen levels were measured. The heparin-antithrombin binding ratio assay was used to distinguish between the different subtypes of type II antithrombin deficiency...
March 20, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28303970/transient-desialylation-in-combination-with-a-novel-antithrombin-deficiency-causing-a-severe-and-recurrent-thrombosis-despite-anticoagulation-therapy
#8
Nuria Revilla, María Eugenia de la Morena-Barrio, Antonia Miñano, Raquel López-Gálvez, Mara Toderici, José Padilla, Ángel García-Avello, María Luisa Lozano, Dirk J Lefeber, Javier Corral, Vicente Vicente
An in-depth focused study of specific cases of patients with recurrent thrombosis may help to identify novel circumstances, genetic and acquired factors contributing to the development of this disorder. The aim of this study was to carry out a detailed and sequential analysis of samples from a patient suffering from early and recurrent venous and arterial thrombosis. We performed thrombophilic tests, biochemical, functional, genetic and glycomic analysis of antithrombin and other plasma proteins. The patient carried a new type I antithrombin mutation (p...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28302625/silencing-of-anticoagulant-protein-c-evokes-low-incident-but-spontaneous-atherothrombosis-in-apolipoprotein-e-deficient-mice
#9
Amber B Ouweneel, Marco Heestermans, Robin A F Verwilligen, Marion J J Gijbels, Pieter H Reitsma, Miranda van Eck, Bart J M van Vlijmen
OBJECTIVE: Murine atherosclerosis models do not spontaneously develop atherothrombotic complications. We investigated whether disruption of natural anticoagulation allows preexisting atherosclerotic plaques to progress toward an atherothrombotic phenotype. APPROACH AND RESULTS: On lowering of plasma protein C levels with small interfering RNA (siProc) in 8-week Western-type diet-fed atherosclerotic apolipoprotein E-deficient mice, one out of 4 mice displayed a large, organized, and fibrin- and leukocyte-rich thrombus on top of an advanced atherosclerotic plaque located in the aortic root...
March 16, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28300866/thrombotic-risk-according-to-serpinc1-genotype-in-a-large-cohort-of-subjects-with-antithrombin-inherited-deficiency
#10
Martine Alhenc-Gelas, Genevieve Plu-Bureau, Justine Hugon-Rodin, Véronique Picard, Marie-Helene Horellou
Inherited quantitative (type I) or qualitative (type II) antithrombin deficiency (ATD) due to mutations in the SERPINC1 gene is a well-known risk factor for venous thromboembolism. ATD may also increase risk for arterial thrombosis. Few studies have investigated risk for thrombosis according to mutations. We addressed this topic in a large retrospective cohort study of 540 heterozygous carriers of SERPINC1 mutations and compared risk for first venous or arterial thrombosis associated with carrying of different type II or type I mutations...
March 16, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28263027/coagulation-factors-anticoagulant-proteins-and-plasminogen-in-mexican-older-adults
#11
E Hernández Zamora, L O González-Espinosa, C Zavala-Hernández, E Rosales-Cruz, E Reyes-Maldonado
INTRODUCTION: Hemostasis protects upon the occurrence of vascular endothelial damage, with involving of different factors. The interaction of these factors in older adults is poorly known, and has been associated with different disorders. Therefore, we determined the activity of coagulation factors (CF), anticoagulant proteins (AP), and plasminogen (Plg), as well as the frequency of deficiencies of these proteins in a population of healthy Mexican older adults (OA). METHODS: CF (I, II, V, VII, VIII, IX, X, and XI y XII), AP [protein C (PC), protein S (PS), and antithrombin (AT)], and Plg were determined from 244 plasma samples of OA using commercial kits in a coagulometer ACL Elite Pro...
March 6, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28259966/a-genetic-risk-factor-for-thrombophilia-in-a-han-chinese-family
#12
Guoping Sun, Yicong Jia, Jingye Meng, Minglin Ou, Peng Zhu, Shan Cong, Yadan Luo, Weiguo Sui, Yong Dai
Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well‑known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, abnormal prothrombin and antiphospholipid syndrome. The present study revealed an association between a mutation of the F2 gene, which codes for coagulation factor II, thrombin, and the risk of thrombophilia in a Han Chinese family, of which four members (I‑2, II‑2, II‑3 and III‑1) had a history of deep venous thromboembolism...
April 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28251495/new-clotting-disorders-that-cast-new-light-on-blood-coagulation-and-may-play-a-role-in-clinical-practice
#13
REVIEW
A Girolami, E Cosi, S Ferrari, A M Lombardi, B Girolami
Recently several variants of clotting factors have shown a peculiar behavior so that they appear as new defects. The factors involved are FII, FV and FIX. Prothrombin deficiency is usually associated with bleeding. Recently a few prothrombin abnormalities involving Arg396 mutations, have been demonstrated to show antithrombin resistance with the consequent appearance of a thrombophilic state and venous thromboses in young age. The same is true for an abnormal FIX (FIX Padua). The thrombotic manifestations in the latter condition are also venous...
March 1, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28229161/high-levels-of-latent-antithrombin-in-plasma-from-patients-with-antithrombin-deficiency
#14
María de la Morena-Barrio, Edna Sandoval, Pilar Llamas, Ewa Wypasek, Mara Toderici, José Navarro-Fernández, Agustín Rodríguez-Alen, Nuria Revilla, Raquel López-Gálvez, Antonia Miñano, José Padilla, Belén de la Morena-Barrio, Jorge Cuesta, Javier Corral, Vincente Vincente
Antithrombin is an anticoagulant serpin that efficiently inhibits multiple procoagulant proteases. The cost for the structural flexibility required for this function is the vulnerability to mutations that impact its folding pathway. Most conformational mutations identified in serpins cause polymerisation. Only three mutations in SERPINC1 affecting two residues have been found to favour transformation to the latent conformation of antithrombin, another hyperstable non-anticoagulant form with strong antiangiogenic activity that constitutes 3 % of plasma antithrombin in healthy subjects...
February 23, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28174134/whole-exome-sequencing-reveals-severe-thrombophilia-in-acute-unprovoked-idiopathic-fatal-pulmonary-embolism
#15
Matt Halvorsen, Ying Lin, Barbara A Sampson, Dawei Wang, Bo Zhou, Lucy S Eng, Sung Yon Um, Orrin Devinsky, David B Goldstein, Yingying Tang
BACKGROUND: Acute unprovoked idiopathic fatal pulmonary embolism (IFPE) causes sudden death without an identifiable thrombogenic risk. We aimed to investigate the underlying genomic risks of IFPE through whole exome sequencing (WES). METHODS: We reviewed 14years of consecutive out-of-hospital fatal pulmonary embolism records (n=1478) from the ethnically diverse population of New York City. We selected 68 qualifying IFPE cases for WES. We compared the WES data of IFPE cases to those of 9332 controls to determine if there is an excess of rare damaging variants in the genome using ethnicity-matched controls in collapsing analyses...
March 2017: EBioMedicine
https://www.readbyqxmd.com/read/28168066/management-of-venous-thromboembolism-in-patients-with-hereditary-antithrombin-deficiency-and-pregnancy-case-report-and-review-of-the-literature
#16
Mohammad Refaei, Lydia Xing, Wendy Lim, Mark Crowther, Kochawan Boonyawat
Background. Hereditary antithrombin deficiency is a thrombogenic disorder associated with a 50-90% lifetime risk of venous thromboembolism (VTE), which is increased during pregnancy and the puerperium in these patients. We present a case of a woman with antithrombin (AT) deficiency who presented with a VTE despite therapeutic low molecular weight heparin (LMWH). Though the pregnancy was deemed unviable, further maternal complications were mitigated through the combined use of therapeutic anticoagulation and plasma-derived antithrombin concentrate infusions to normalize her functional antithrombin levels...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28129465/evaluation-of-coagulation-during-treatment-with-directly-acting-antivirals-in-patients-with-hepatitis-c-virus-related-cirrhosis
#17
Armando Tripodi, Roberta D'Ambrosio, Lidia Padovan, Giulia Tosetti, Alessio Aghemo, Massimo Primignani, Veena Chantarangkul, Flora Peyvandi, Massimo Colombo
BACKGROUND & AIMS: The effect of direct-acting-antivirals (DAA) on coagulation of hepatitis-C-virus (HCV)-related cirrhosis is unknown. METHODS: We investigated 28 patients on DAA treatment and performed prothrombin-time, thrombin generation with and without thrombomodulin, whole-blood thromboelastometry, as well as the individual procoagulants (II, VIII, XIII, von Willebrand) and anticoagulants, antithrombin and protein-C. RESULTS: Patients had undetectable HCV-RNA at the end-of- treatment and at 12-weeks after end-of-treatment (sustained virological response)...
January 27, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28069642/%C3%AE-1-antitrypsin-enhances-islet-engraftment-by-suppression-of-instant-blood-mediated-inflammatory-reaction
#18
Jingjing Wang, Zhen Sun, Wenyu Gou, David B Adams, Wanxing Cui, Katherine A Morgan, Charlie Strange, Hongjun Wang
Islet cell transplantation has limited effectiveness because of an instant blood-mediated inflammatory reaction (IBMIR) that occurs immediately after cell infusion and leads to dramatic β-cell death. In intraportal islet transplantation models using mouse and human islets, we demonstrated that α-1 antitrypsin (AAT; Prolastin-C), a serine protease inhibitor used for the treatment of AAT deficiency, inhibits IBMIR and cytokine-induced inflammation in islets. In mice, more diabetic recipients reached normoglycemia after intraportal islet transplantation when they were treated with AAT compared with mice treated with saline...
April 2017: Diabetes
https://www.readbyqxmd.com/read/28060110/antithrombin-iii-as-the-indicator-of-l-asparaginase-activity-in-children-treated-for-acute-lymphoblastic-leukemia
#19
Małgorzata Czogała, Walentyna Balwierz, Krystyna Sztefko, Iwona Rogatko
L-asparaginase (ASP) is widely used in the treatment of acute lymphoblastic leukemia (ALL) in children. Monitoring its activity is necessary because of the risk of drug inactivation as the result of an immune reaction. Besides allergic reactions, another frequent side effect of ASP treatment is coagulopathy, especially deficiency of antithrombin III (ATIII). The aim of this study was to analyze the relationship between ASP and ATIII activities and the possibility of ATIII activity use in an indirect ASP activity assessment...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28036320/case-report-of-severe-antithrombin-deficiency-during-extracorporeal-membrane-oxygenation-and-therapeutic-plasma-exchange-for-double-lung-transplantation
#20
Brittney Williams, Michael A Mazzeffi, Pablo G Sanchez, Si M Pham, Zachary Kon, Kenichi A Tanaka
Acquired antithrombin (AT) deficiency is not uncommon in cardiothoracic surgery because of heparin exposure and dilutional or consumptive losses. We report a case of acquired AT deficiency and resultant multiple deep vein thrombosis in a patient with pulmonary fibrosis on veno-venous extracorporeal membrane oxygenation who underwent double lung transplantation with intraoperative therapeutic plasma exchange (TPE) as a part of an immunomodulation regimen for allosensitization. Preoperative heparin anticoagulation resulted in AT deficiency, which was further exacerbated by TPE using albumin...
January 1, 2017: A & A Case Reports
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