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antithrombin deficiency

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https://www.readbyqxmd.com/read/28323357/characterisation-of-clotting-factors-anticoagulant-protein-activities-and-viscoelastic-analysis-in-healthy-donkeys
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
January 31, 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
#11
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
#12
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/alpha-1-antitrypsin-enhances-islet-engraftment-by-suppression-of-instant-blood-mediated-inflammatory-reaction
#13
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 alpha-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 to mice treated with saline...
January 9, 2017: Diabetes
https://www.readbyqxmd.com/read/28060110/antithrombin-iii-as-the-indicator-of-l-asparaginase-activity-in-children-treated-for-acute-lymphoblastic-leukemia
#14
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
#15
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
https://www.readbyqxmd.com/read/28028988/direct-oral-anticoagulants-in-patients-with-thrombophilia-challenges-in-diagnostic-evaluation-and-treatment
#16
REVIEW
Anetta Undas, Tadeusz Góralczyk
Direct oral anticoagulants (DOACs) or non-vitamin K oral anticoagulants (NOACs) are increasingly used in the prevention of recurrent venous thromboembolism (VTE), including that associated with thrombophilia. The efficacy of DOACs in thrombophilic patients, especially those with severe trombophilia or triple positive antiphospholipid syndrome (APS) with arterial thromboembolic events, remains controversial. Most case reports and case series indicate that DOACs are an attractive therapeutic option in the vast majority of these patients at high risk of recurrent VTE with more concerns raised in high-risk APS patients and these deficient in protein S (PS)...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28010922/risk-factors-for-symptomatic-venous-and-arterial-thromboembolism-in-newborns-children-and-adolescents-what-did-we-learn-within-the-last-20years
#17
Gili Kenet, Verena Limperger, Maria Shneyder, Ulrike Nowak-Göttl
Venous thrombosis (VTE) in children is increasingly diagnosed, as advanced medical care has increased treatment intensity of hospitalized pediatric patients. The aim of this review was to summarize the data available and to discuss the controversial issue of thrombophilia screening in the light of the pediatric data available. Follow-up data for VTE recurrence in children suggest a recurrence rate between 3% (neonates) and 21% in individuals with unprovoked VTE. Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of protein C-, protein S- and antithrombin deficiency, factor 5 (F5: rs6025), factor 2 (F2: rs1799963), even more pronounced when combined inherited thrombophilias [IT] were involved...
December 14, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28005013/antithrombin-iii-deficiency-concomitant-with-atrial-fibrillation-causes-thrombi-in-all-chambers-2d-and-3d-echocardiographic-evaluation
#18
Mert İlker Hayıroğlu, Muhammed Keskin, Cevdet Dönmez, Muhammed Burak Günay, Şennur Ünal Dayı
No abstract text is available yet for this article.
December 2016: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/27995667/liver-dysfunction-in-women-with-pregnancy-induced-antithrombin-deficiency
#19
Mamoru Morikawa, Kosuke Kawabata, Emi Kato-Hirayama, Yasunari Oda, Hiroto Ueda, Soromon Kataoka, Takashi Yamada, Kazuhiko Okuyama, Kazuo Sengoku, Hisanori Minakami
AIM: The aim of this study was to determine whether women with pregnancy-induced antithrombin deficiency (PIATD) had higher risk of liver dysfunction in the absence of thrombocytopenia. METHODS: We carried out a retrospective observational study at five centers in all 129 women with incidentally found PIATD among 5249 maternities and 129 control women without PIATD matched for number of fetuses and gestational week at delivery. PIATD was diagnosed in women with antenatal antithrombin (AT) activities of ≤75% followed by a further decrease to ≤65% peripartum...
December 19, 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27975105/transient-inherited-antithrombin-deficiency-a-real-phenomenon
#20
Martina E Daly, Peter C Cooper, Kieron P Hickey, Ian Jennings, Mike Makris
No abstract text is available yet for this article.
December 15, 2016: Thrombosis and Haemostasis
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