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Nihon Rinsho. Japanese Journal of... Dec 2004
Review
Topics: Antithrombin III; Antithrombin III Deficiency; Antithrombins; Biomarkers; Blood Coagulation Tests; Disseminated Intravascular Coagulation; Humans; Immunoassay; Peptide Hydrolases; Reference Values; Thrombin; Thrombophilia
PubMed: 15658407
DOI: No ID Found -
Internal Medicine (Tokyo, Japan) Mar 2023Antithrombin resistance (ATR) is a newly identified strong genetic predisposition to venous thromboembolism (VTE) caused by genetic variations in prothrombin with... (Review)
Review
Antithrombin resistance (ATR) is a newly identified strong genetic predisposition to venous thromboembolism (VTE) caused by genetic variations in prothrombin with substitutions of Arg at position 596 with either Leu, Gln, or Trp. In the present report, we identified a missense variant p.Arg596Gln in 3 patients from 2 families with unprovoked VTE who each experienced their first VTE event at 19, 67, and 19 years old. The three patients did not show any positive markers for thrombophilia on routine testing, suggesting that patients with unprovoked VTE who have negative findings on thrombophilia tests may carry a prothrombin variant with ATR.
Topics: Humans; Venous Thromboembolism; Antithrombins; Prothrombin; Antithrombin III; Anticoagulants; Thrombophilia; Risk Factors
PubMed: 35945029
DOI: 10.2169/internalmedicine.9718-22 -
The New England Journal of Medicine Jan 1975
Review
Topics: Antithrombin III; Antithrombins; Binding Sites; Blood Coagulation; Blood Coagulation Factors; Disseminated Intravascular Coagulation; Drug Interactions; Fibrinolysin; Fibrinolysis; Heparin; Humans; Syndrome; Thrombin; Thrombophlebitis
PubMed: 127943
DOI: 10.1056/NEJM197501162920307 -
Antithrombin Supplementation in Infants Undergoing Cardiac Surgery: A New Piece of a Complex Puzzle.Journal of Cardiothoracic and Vascular... Feb 2019
Topics: Anticoagulants; Antithrombin III; Antithrombins; Cardiac Surgical Procedures; Double-Blind Method; Humans; Infant
PubMed: 30087026
DOI: 10.1053/j.jvca.2018.07.003 -
JCI Insight Oct 2022Antithrombin, a major endogenous anticoagulant, is a serine protease inhibitor (serpin). We characterized the biological and clinical impact of variants involving...
Antithrombin, a major endogenous anticoagulant, is a serine protease inhibitor (serpin). We characterized the biological and clinical impact of variants involving C-terminal antithrombin. We performed comprehensive molecular, cellular, and clinical characterization of patients with C-terminal antithrombin variants from a cohort of 444 unrelated individuals with confirmed antithrombin deficiency. We identified 17 patients carrying 12 C-terminal variants, 5 of whom had the p.Arg445Serfs*17 deletion. Five missense variants caused qualitative deficiency, and 7, including 4 insertion-deletion variants, induced severe quantitative deficiency, particularly p.Arg445Serfs*17 (antithrombin <40%). This +1 frameshift variant had a molecular size similar to that of WT antithrombin but possessed a different C-terminus. Morphologic and cotransfection experiments showed that recombinant p.Arg445Serfs*17 was retained at the endoplasmic reticulum and had a dominant-negative effect on WT antithrombin. Characterization of different 1+ frameshift, aberrant C-terminal variants revealed that protein secretion was determined by frameshift site. The introduction of Pro441 in the aberrant C-terminus, shared by 5 efficiently secreted variants, partially rescued p.Arg445Serfs*17 secretion. C-terminal antithrombin mutants have notable heterogeneity, related to variant type and localization. Aberrant C-terminal variants caused by 1+ frameshift, with similar size as WT antithrombin, may be secreted or not, depending on frameshift site. The severe clinical phenotypes of these genetic changes are consistent with their dominant-negative effects.
Topics: Antithrombin III; Antithrombins; Endoplasmic Reticulum; Serine Proteinase Inhibitors; Serpins
PubMed: 36214221
DOI: 10.1172/jci.insight.161430 -
The Journal of Extra-corporeal... Jun 2022Hematologic complications are a source of morbidity and mortality for patients receiving extracorporeal membrane oxygenation (ECMO) support. There is no consensus... (Observational Study)
Observational Study
Hematologic complications are a source of morbidity and mortality for patients receiving extracorporeal membrane oxygenation (ECMO) support. There is no consensus strategy for monitoring anticoagulation for children supported with ECMO. This study evaluated a novel measurement of anticoagulation for children on ECMO. This was a single-center observational study of children supported with ECMO from 2015 to 2020. Each patient's current unfractionated heparin dose was multiplied by the current antithrombin III (AT) level to obtain a novel anticoagulation value, the heparin-antithrombin product (HAP). This value was compared with the heparin dose, AT, and activated clotting time (ACT) to predict anti-Xa value using linear correlation and decision tree methods. Data were obtained from 128 patients supported with ECMO. The HAP value was more highly correlated with anti-Xa level than heparin dose, AT level, and ACT. This correlation was highest in the neonatal population ( = .7). The variable importance metrics from the regression tree and random forest models both identified the HAP value as the most influential predictor variable for anti-Xa value. The HAP value is more highly correlated with the anti-Xa level than heparin dose, AT level, or ACT. Further research is needed to evaluate the effectiveness of the HAP value as a measurement of anticoagulation for children on ECMO.
Topics: Anticoagulants; Antithrombin III; Antithrombins; Child; Extracorporeal Membrane Oxygenation; Heparin; Humans; Infant, Newborn; Retrospective Studies
PubMed: 35928336
DOI: 10.1182/ject-115-122 -
ASAIO Journal (American Society For... Oct 2022
Topics: Anticoagulants; Antithrombin III; Antithrombins; Extracorporeal Membrane Oxygenation; Retrospective Studies
PubMed: 35731962
DOI: 10.1097/MAT.0000000000001704 -
Polish Archives of Internal Medicine Oct 2020Antithrombin is a key endogenous anticoagulant that also plays other roles in inflammation, immunity, and other processes. Congenital antithrombin deficiency is the most...
Antithrombin is a key endogenous anticoagulant that also plays other roles in inflammation, immunity, and other processes. Congenital antithrombin deficiency is the most severe type of thrombophilia, yet characterized by a remarkable clinical heterogeneity. Here, as a primer for internists, we present a practical review of data regarding this disorder, focused on its molecular basis, diagnostic procedures, prognostic implications, and clinical management of patients suffering from this severe, and probably underdiagnosed, type of thrombophilia.
Topics: Anticoagulants; Antithrombin III; Antithrombin III Deficiency; Antithrombins; Humans; Thrombophilia
PubMed: 32426958
DOI: 10.20452/pamw.15371 -
Pediatric Critical Care Medicine : a... Dec 2016
Topics: Antithrombin III; Antithrombins; Extracorporeal Membrane Oxygenation; Humans; Infant; Retrospective Studies
PubMed: 27918392
DOI: 10.1097/PCC.0000000000000988 -
Lijecnicki Vjesnik 1987
Review
Topics: Antithrombin III; Antithrombin III Deficiency; Humans
PubMed: 3312901
DOI: No ID Found