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antithrombin deficiency

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https://www.readbyqxmd.com/read/28174134/whole-exome-sequencing-reveals-severe-thrombophilia-in-acute-unprovoked-idiopathic-fatal-pulmonary-embolism
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27968853/predominant-mutations-in-a-hotspot-of-serpinc1-associated-with-venous-thromboembolism-in-the-chinese-population-a-case-control-study
#12
Liang Tang, Wei Zeng, Qing-Yun Wang, Mara Toderici, Maria Eugenia de la Morena-Barrio, Javier Corral, Yu Hu
BACKGROUND: Antithrombin plays a key anticoagulant role. The prevalence of antithrombin deficiency is thought to be very low in patients with thromboembolism. However, increasing evidence suggests that antithrombin deficiency may be underestimated. We aimed to uncover predominant mutations in SERPINC1 in the Chinese population. METHODS: In this case-control study, we selected individuals with venous thromboembolism from the biobank of Hubei Clinical Research Center of Thrombosis and Haemostasis in China and controls from the same area and the same time period...
October 2016: Lancet
https://www.readbyqxmd.com/read/27902939/factor-xiii-deficiency-enhances-thrombin-generation-due-to-impaired-fibrin-polymerization-an-effect-corrected-by-factor-xiii-replacement
#13
Hanna H Pitkänen, Annukka Jouppila, Marja Lemponen, Minna Ilmakunnas, Jouni Ahonen, Riitta Lassila
INTRODUCTION: Factor XIII (FXIII) cross-links fibrin, completing blood coagulation. Congenital FXIII deficiency is managed with plasma-derived FXIII (pdFXIII) or recombinant FXIII (rFXIII) concentrates. AIM: As the mechanisms protecting patients with low FXIII levels (<5IU/dL) from spontaneous bleeds remain unknown we assessed the interplay between thrombin generation (TG), fibrin formation and clot kinetics before and after FXIII administration in three patients with FXIII deficiency...
January 2017: Thrombosis Research
https://www.readbyqxmd.com/read/27891624/quarantine-versus-pathogen-reduced-plasma-coagulation-factor-content-and-rotational-thromboelastometry-coagulation
#14
Oliver M Theusinger, David Goslings, Jan-Dirk Studt, Brigitte Brand-Staufer, Burkhardt Seifert, Donat R Spahn, Beat M Frey
BACKGROUND: Different types of fresh-frozen plasma (FFP) exist, and the concentrations of plasma proteins vary between individuals and blood groups. Furthermore, processing may also influence the content. Quarantine-stored plasma (qFFP) and plasma that was pathogen-reduced using blood-safety (Intercept) technology (piFFP) were analyzed regarding procoagulant and anticoagulant hemostasis proteins, including endogenous thrombin (thrombin-generation) potential (ETP). MATERIALS AND METHODS: Thirty-five samples of each type of FFP were analyzed using only male Blood Group O donors...
November 27, 2016: Transfusion
https://www.readbyqxmd.com/read/27863268/subtypes-of-serpinc1-mutations-and-the-thrombotic-phenotype-of-inherited-antithrombin-deficient-individuals-in-chinese-han-population
#15
Dong Wang, Guanglin Cui, Senlin Hu, Dao Wen Wang
Inherited antithrombin (AT) deficiency is a rare autosomal disease that could increase the risk of venous thromboembolism (VTE) and usually caused by mutations of SERPINC1. Although a number of mutations of SERPINC1 have been reported in Chinese Han population, the impact of different subtypes of these mutations on the thrombotic phenotype is still unknown. Here, we performed a retrospective cohort study including 169 AT patients from 63 families to compare the clinical features between null mutation carriers and missense mutation carriers...
November 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27858332/causative-genetic-mutations-for-antithrombin-deficiency-and-their-clinical-background-among-japanese-patients
#16
Akiko Sekiya, Fumina Taniguchi, Daisuke Yamaguchi, Sayaka Kamijima, Shonosuke Kaneko, Shiori Katsu, Miho Hanamura, Mao Takata, Haruka Nakano, Hidesaku Asakura, Shigeki Ohtake, Eriko Morishita
We summarize causative genetic mutations for antithrombin (AT) deficiency and their clinical background in Japanese patients. A total of 19 mutations, including seven novel mutations, were identified. We also summarize clinical symptoms of thrombosis, age at onset, family history, and contributing factors for thrombosis, and review the use of prophylactic anticoagulation in pregnant women with heterozygous type II heparin binding site defects (HBS) AT deficiency. The prevalence of thrombosis in probands with type I AT deficiency (88%) was double that observed in those with type II AT deficiency (50%)...
November 17, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27853070/edoxaban-was-effective-for-the-treatment-of-deep-vein-thrombosis-and-pulmonary-thromboembolism-in-a-cancer-patient-with-antithrombin-iii-deficiency
#17
Hiroaki Kawano, Koji Maemura
A 57-year-old man with antithrombin III deficiency with deep vein thrombosis and pulmonary thromboembolism after surgery for colon cancer was managed with warfarin and inferior vena cava filtration. After starting chemotherapy for liver metastasis, the control of his prothrombin time-international normalized ratio in response to warfarin began to fluctuate. Warfarin was changed to edoxaban (an oral direct Factor Xa inhibitor), and he had no recurrence of venous thromboembolism or bleeding for approximately 1 year...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27851127/1491-antithrombin-iii-deficiency-relates-to-mortality-in-sepsis
#18
Noriko Saito, Ayumi Kawasaki, Noboru Akizuki, Mizuho Namiki, Munekazu Takeda, Arino Yaguchi
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27848915/heparin-monitoring-clinical-outcome-and-practical-approach
#19
REVIEW
Noémie Despas, Anne-Sophie Larock, Hugues Jacqmin, Jonathan Douxfils, Bernard Chatelain, Marc Chatelain, François Mullier
Traditional anticoagulant agents such as unfractionated heparin (UFH), low molecular weight heparins (LMWHs), fondaparinux, danaparoid and bivalirudine are used in the prevention and treatment of thromboembolic diseases. However, these agents have limitations: their constraining parenteral route of administration and the need for regular coagulation monitoring for HNF. The LMWHs, with their more predictable anticoagulant response, don't require a systematic monitoring. The usefulness of LMWHs monitoring in several clinical situations such as pregnancy, obesity and renal insufficiency is a matter of debate...
December 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27799851/low-molecular-weight-heparin-can-benefit-women-with-recurrent-pregnancy-loss-and-sole-protein-s-deficiency-a-historical-control-cohort-study-from-taiwan
#20
Ming-Ching Shen, Wan-Ju Wu, Po-Jen Cheng, Gwo-Chin Ma, Wen-Chu Li, Jui-Der Liou, Cheng-Shyong Chang, Wen-Hsiang Lin, Ming Chen
BACKGROUND: Heritable thrombophilias are assumed important etiologies for recurrent pregnancy loss. Unlike in the Caucasian populations, protein S and protein C deficiencies, instead of Factor V Lieden and Prothrombin mutations, are relatively common in the Han Chinese population. In this study we aimed to investigate the therapeutic effect of low molecular weight heparin upon women with recurrent pregnancy loss and documented protein S deficiency. METHODS: During 2011-2016, 68 women with recurrent pregnancy loss (RPL) and protein S deficiency (both the free antigen and function of protein S were reduced) were initially enrolled...
2016: Thrombosis Journal
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