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antithrombin deficiency

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https://www.readbyqxmd.com/read/28805957/stroke-or-left-atrial-thrombus-prediction-using-antithrombin-iii-and-mean-platelet-volume-in-patients-with-nonvalvular-atrial-fibrillation
#1
Seo-Won Choi, Bo-Bae Kim, Dong-Hyun Choi, Geon Park, Byung Chul Shin, Heesang Song, DongHun Kim, Dong-Min Kim
BACKGROUND: CHADS2 (congestive heart failure, hypertension, age ≥ 75 years, diabetes mellitus, stroke) and CHA2 DS2 -VASc (congestive heart failure, hypertension, age ≥ 75 years, diabetes mellitus, stroke, vascular disease, age 65 to 74 years, sex category) scores showed just moderate discrimination ability in predicting thromboembolic complications in patients with nonvalvular atrial fibrillation (AF). HYPOTHESIS: To determine the association of antithrombin III (AT-III) deficiency and mean platelet volume (MPV) with the development of stroke or left atrial (LA) thrombus in patients with AF...
August 14, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28804823/an-overview-of-thrombophilia-and-associated-laboratory-testing
#2
Martina Montagnana, Giuseppe Lippi, Elisa Danese
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28801334/family-with-clots-antithrombin-deficiency
#3
Samer Al Hadidi, Kristi Wu, Ahmed Aburahma, Zain Alamarat
No abstract text is available yet for this article.
August 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28794370/the-successful-prevention-of-thromboembolism-using-rivaroxaban-in-a-patient-with-antithrombin-deficiency-during-the-perioperative-period
#4
Hidetsugu Kawai, Hiromichi Matsushita, Hiroshi Kawada, Yoshiaki Ogawa, Kiyoshi Ando
Antithrombin (AT) deficiency, a rare disorder of the coagulation system, is a serious risk factor for thromboembolism. Approximately 50-90% of patients with AT deficiency develop thromboembolism during their lifetime. In addition, surgery is a major risk factor for thromboembolism in these patients. We herein report the case of a 90-year-old woman with AT deficiency who was safely and successfully managed using rivaroxaban (a direct oral factor Xa inhibitor) during the perioperative period of surgery for right femur fracture...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28792912/adverse-pregnancy-outcomes-and-inherited-thrombophilia
#5
Dominik Dłuski, Radzisław Mierzyński, Elżbieta Poniedziałek-Czajkowska, Bożena Leszczyńska-Gorzelak
AIM: (1) To evaluate the prevalence of inherited thrombophilia in pregnant women with adverse pregnancy outcomes: intrauterine growth retardation (IUGR), preeclampsia (PE) and placental abruption. (2) To assess the impact of inherited thrombophilia on the nature of obstetric complications. (3) To assess levels of protein S, protein C, antithrombin III and homocysteine in pregnant women with adverse pregnancy outcomes. SUBJECTS AND METHODS: The study comprised 162 pregnant women...
August 9, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28783511/antithrombin-debrecen-p-leu205pro-clinical-and-molecular-characterization-of-a-novel-mutation-associated-with-severe-thrombotic-tendency
#6
Anna Selmeczi, Réka Gindele, Péter Ilonczai, Attila Fekete, István Komáromi, Ágota Schlammadinger, Katalin Rázsó, Kitti B Kovács, Helga Bárdos, Róza Ádány, László Muszbek, Zsuzsanna Bereczky, Zoltán Boda, Zsolt Oláh
INTRODUCTION: Hereditary antithrombin (AT) deficiency is a rare thrombophilic disorder with heterogeneous genetic background and various clinical presentations. In this study we identified a novel AT mutation. Genotype-phenotype correlations, molecular characteristics and thrombotic manifestations of the mutation were investigated. MATERIALS AND METHODS: Thirty-one members of a single family were included. Clinical data was collected regarding thrombotic history...
July 24, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28743742/disease-causing-mutations-in-the-serpin-antithrombin-reveal-a-key-domain-critical-for-inhibiting-protease-activities
#7
Sonia Águila, Gonzalo Izaguirre, Irene Martinez-Martinez, Vicente Vicente, Steven T Olson, Javier Corral
Antithrombin mainly inhibits factor Xa, and thrombin. The reactive center loop (RCL) is crucial for its interactions with its protease targets and is fully inserted into the A-sheet after its cleavage, causing translocation of the covalently linked protease to the opposite end of the A-sheet. Antithrombin variants with altered RCL hinge residues behave as substrates rather than inhibitors, resulting in stoichiometries of inhibition greater than one. Other antithrombin residues have been suggested to interfere with RCL insertion or the stability of the antithrombin-protease complex, but available crystal structures or mutagenesis studies have failed to identify such residues...
July 25, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28706112/workup-for-perinatal-stroke-does-not-predict-recurrence
#8
Laura L Lehman, Jeanette Beaute, Kush Kapur, Amy R Danehy, Miya E Bernson-Leung, Hayley Malkin, Michael J Rivkin, Cameron C Trenor
BACKGROUND AND PURPOSE: Perinatal stroke, including neonatal and presumed perinatal presentation, represents the age in childhood in which stroke occurs most frequently. The roles of thrombophilia, arteriopathy, and cardiac anomalies in perinatal ischemic stroke are currently unclear. We took a uniform approach to perinatal ischemic stroke evaluation to study these risk factors and their association with recurrent stroke. METHODS: We reviewed records of perinatal stroke patients evaluated from August 2008 to February 2016 at a single referral center...
July 13, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28689083/management-of-hereditary-antithrombin-deficiency-in-pregnancy
#9
Andra H James, Shannon M Bates, Kenneth A Bauer, Ware Branch, Kenneth Mann, Michael Paidas, Neil Silverman, Barbara A Konkle
Antithrombin (AT) deficiency is a high-risk thrombophilia and a rare condition. Despite full anticoagulation during pregnancy and the postpartum period, women with AT deficiency may still be vulnerable to developing venous thromboembolism (VTE), including fatal events. There is limited guidance on the management of AT deficiency in pregnancy, including the role of AT concentrates. Following a comprehensive review of the state of the art with respect to recommendations and guidelines, our expert panel in maternal-fetal medicine, hematology and basic science reached consensus on key issues in the recognition and management of AT deficiency in pregnancy...
May 24, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28684050/thrombophilic-and-cardiovascular-risk-factors-for-retinal-vein-occlusion
#10
Paolo Bucciarelli, Serena M Passamonti, Francesca Gianniello, Andrea Artoni, Ida Martinelli
BACKGROUND: The role of thrombophilic and cardiovascular risk factors in different manifestations of retinal vein occlusion (RVO), i.e., central or branch RVO, and at different ages is still debated. AIMS: To evaluate the association between thrombophilic and cardiovascular risk factors and the risk of RVO (overall, separately for central and branch RVO, and at different ages). METHODS: Case-control study on 313 patients with a first objectively-confirmed RVO (216 central and 97 branch RVO) and 415 healthy individuals...
July 3, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28670948/double-versus-single-thrombophilias-during-pregnancy
#11
Rachel Carroll, Andrei Rebarber, Whitney Booker, Nathan Fox, Daniel Saltzman, Jennifer Lam-Rachlin, Simi Gupta
OBJECTIVE: The primary objective of this study was to evaluate whether women with double thrombophilias have a greater risk for obstetric complications as compared with women who have single thrombophilias. STUDY DESIGN: This is a retrospective cohort study of all patients in a single practice with a clinically significant inherited thrombophilia and treated with anticoagulation between 2005 and 2013. Thrombophilias evaluated include: factor V Leiden, prothrombin G20210A gene mutation, protein S deficiency, protein C deficiency, and antithrombin III deficiency...
July 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28667866/a-case-that-illustrates-the-challenges-of-managing-pregnant-patients-with-antithrombin-deficiency-more-questions-than-answers
#12
Leslie Skeith, Andrew Aw, Julia Hews-Girard, Natalia Rydz
Using an illustrative case of a patient with antithrombin (AT) deficiency who developed a recurrent venous thromboembolism (VTE) in pregnancy despite therapeutic low-molecular-weight heparin (LMWH), we highlight what is known in the literature and address areas of controversy through a series of questions around the case. The questions we address include the role of anti-Xa monitoring for patients with past VTE on antepartum LMWH, what treatment regimen is recommended for pregnant patients who develop a recurrent VTE while on therapeutic anticoagulation, the role of antepartum AT concentrate prophylaxis, and the management of labor/delivery, epidural anesthesia and postpartum anticoagulation...
June 24, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28647870/prothrombotic-genetic-risk-factors-in-patients-with-very-early-st-segment-elevation-myocardial-infarction
#13
Loukianos S Rallidis, Argyri Gialeraki, Georgios Tsirebolos, Stylianos Tsalavoutas, Maria Rallidi, Efstathios Iliodromitis
The contribution of prothrombotic genetic risk factors in the pathogenesis of premature acute myocardial infarction (MI) is controversial. We examined the prevalence of prothrombotic polymorphisms (G1691A of factor V gene [FV Leiden] and G20210A of prothrombin [FII] gene), deficiencies of natural anticoagulants (protein C, protein S and antithrombin III) and antiphospholipid syndrome (APS) in patients with early ST-segment elevation MI (STEMI). We recruited 255 consecutive patients who had survived a STEMI ≤ 35 years of age (224 men)...
August 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28629414/fibrinogen-deficiency-in-a-dog-a-case-report
#14
Franck Jolivet, Armelle Diquélou, Catherine Trumel, Simon Privat, Olivier Dossin
BACKGROUND: Among coagulation disorders, primary fibrinogen deficiency is very rare in dogs. It is divided into hypofibrinogenemia, afibrinogenemia and dysfibrinogenemia. Afibrinogenemia has been described in three dogs. There are, however, no published case reports of primary hypofibrinogenemia in dogs. CASE PRESENTATION: A 1.5 year-old male German Pointer dog was evaluated for a locked-jaw syndrome associated with eye protrusion which appeared after a minor head trauma...
June 19, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28627093/characterization-of-thrombosis-in-patients-with-proteus-syndrome
#15
Kim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, Leslie G Biesecker
Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28617415/oral-d-galactose-supplementation-in-pgm1-cdg
#16
Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, Tomas Honzik, Hana Hansikova, Katja S Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut-Cegielska, Dieter Koch, Jozef Hertecant, Graeme Preston, Jaak Jaeken, Nicole Peeters, Stefanie Perez, David Do Nguyen, Kea Crivelly, Tim Emmerzaal, K Michael Gibson, Kimiyo Raymond, Nurulamin Abu Bakar, Francois Foulquier, Gernot Poschet, Amanda M Ackermann, Miao He, Dirk J Lefeber, Christian Thiel, Tamas Kozicz, Eva Morava
PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-gal) showed clinical improvement. So far no systematic in vitro and clinical studies have assessed safety and benefits of D-gal supplementation. In a prospective pilot study, we evaluated the effects of oral D-gal in nine patients.MethodsD-gal supplementation was increased to 1.5 g/kg/day (maximum 50 g/day) in three increments over 18 weeks...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28607330/genetic-characterization-of-antithrombin-protein-c-and-protein-s-deficiencies-in-polish-patients
#17
Ewa Wypasek, Javier Corral, Martine Alhenc-Gelas, Wojciech Sydor, Teresa Iwaniec, Magdalena Celińska-Lowenhoff, Daniel P Potaczek, Aleksandra Blecharczyk, Krystyna Zawilska, Jacek Musiał, Anetta Undas
INTRODUCTION    Inherited deficiencies of natural anticoagulants such as antithrombin (AT; gene: SERPINC1), protein C (PC; PROC), and protein S (PS; PROS1), with the prevalence in the general European population of 0.02% to 0.17%, 0.2% to 0.3%, and 0.5%, respectively, are associated with increased risk of thromboembolic events. Only a few case reports of Polish deficient patients with known causal mutations have been published so far. OBJECTIVES    The aim of the study was to characterize the frequency of SERPINC1, PROC, and PROS1 mutations and their thromboembolic manifestations in patients with AT, PC, or PS deficiencies, inhabiting southern Poland...
August 9, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28599693/clinical-characteristics-and-outcome-of-budd-chiari-syndrome-at-a-tertiary-care-hospital-in-pakistan
#18
Om Parkash, Aysha Khan, Saeed Hamid
OBJECTIVE: To determine the clinical characteristics of Budd-Chiari syndrome (BCS), its causes and outcome at a tertiary care hospital. STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital,Karachi, from 2004 to 2014. METHODOLOGY: Aretrospective analysis of data was conducted. Apredesigned questionnaire was filled from medical records of patients with BCS. Clinical features, etiology, management and outcome was noted from 2004 to 2014...
May 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28596657/increased-level-of-factor-viii-and-physiological-inhibitors-of-coagulation-in-patients-with-sickle-cell-disease
#19
Mohamed Chekkal, Mohamed Chakib Arslane Rahal, Khedidja Moulasserdoun, Fatima Seghier
Sickle cell disease (SCD) is a hemoglobinopathy characterized by hemolysis, oxidative stress, and vaso-occlusive crises. Thromboembolism also remains a serious complication and probably underestimated in the SCD. Our objective was to seek the existence of hemostasis abnormalities that predispose to thrombosis such as elevation of FVIII and Physiological inhibitors of coagulation deficiency. We studied 81 patients with SCD, including 32 homozygous S/S, 20 double heterozygous S/β thalassemia and 29 heterozygous S/A...
June 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28583531/does-activated-clotting-time-help-to-predict-innate-coagulopathy-in-end-stage-liver-disease-patients
#20
H-W Jeong, H-M Kwon, K-W Jung, Y-J Moon, I-G Jun, J-G Song, G-S Hwang
BACKGROUND: Measuring activated clotting time (ACT) is widely performed to monitor heparin therapy. Regardless of anticoagulant use, ACT is affected by coagulopathies such as coagulation factor deficiency and thrombocytopenia. However, its use in end-stage liver disease (ESLD) with complex coagulopathy is not well characterized. We evaluated whether ACT could be used to detect innate coagulopathy in ESLD patients. METHODS: We retrospectively assessed Hemochron (International Technidyne, Edison, NJ, USA) ACT (FTCA 510, normal range 105-167 seconds) and INTEM clotting time (CT) of rotational thromboelastometry (ROTEM; ROTEM delta, Pentapharm GmbH, Munich, Germany) (100-240 seconds) in 366 liver transplantation (LT) recipients, simultaneously measured before anesthetic induction for LT...
June 2017: Transplantation Proceedings
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