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antithrombin deficiency

Makoto Ikejiri, Hideo Wada, Norikazu Yamada, Maki Nakamura, Naoki Fujimoto, Kaname Nakatani, Akimasa Matsuda, Yosihito Ogihara, Takeshi Matsumoto, Yuki Kamimoto, Tomoaki Ikeda, Naoyuki Katayama, Masaaki Ito
Congenital thrombophilia which is characterized by deficiencies in proteins such as antithrombin (AT), protein C (PC) and protein S (PS), is a major cause of venous thromboembolism (VTE). A total of 130 patients with VTE were evaluated for congenital thrombophilia based on the activity of AT, PC, or PS. Fifteen VTE patients with congenital AT deficiency (11.5 %), 16 with congenital PC deficiency (12.3 %) and eight with congenital PS deficiency (6.2 %) were diagnosed using DNA analysis. The frequency of congenital AT deficiency was significantly higher in subjects with pregnancy-related and idiopathic VTE than in those with VTE due to other causes, and congenital PC and PS deficiency were frequently associated with idiopathic VTE...
October 20, 2016: International Journal of Hematology
Toshiyuki Miyata, Keiko Maruyama, Fumiaki Banno, Reiko Neki
In recent years, genetic analyses of congenital deficiencies of three anticoagulant proteins, antithrombin, protein C (PC) and protein S (PS), in East Asian patients with venous thromboembolism (VTE) have greatly increased. The PS-K196E mutation is often identified in the Japanese population with an allelic frequency of 0.86 %, and a total of approximately 10,000 Japanese are estimated to be homozygotes. The heterozygotes show PS anticoagulant activities ranging from 40 to 110 %, and 16 % lower mean anticoagulant activity than that in wild-type individuals...
2016: Thrombosis Journal
Robert Bona
Thrombophilia or hypercoagulable conditions can be thought of as either inherited or acquired. The inherited disorders include deficiencies of antithrombin, protein C, or protein S or the common disorders of factor V Leiden and prothrombin G20210A gene mutation. All these disorders are inherited as autosomal dominant and predispose individuals primarily to venous thrombosis. Acquired thrombophilic conditions are seen in individuals with cancer, phospholipid antibodies, and a whole host of other conditions that alter endothelial function, change blood levels of coagulant or anticoagulant proteins, activate platelets, or have other effects on coagulation proteins, platelet function, or the endothelium...
November 2016: Oral and Maxillofacial Surgery Clinics of North America
Jessica W Skelley, C Whitney White, Angela R Thomason
To review the use of the direct oral anticoagulant (DOAC) agents in inherited thrombophilia based on the literature. MEDLINE, International Pharmaceutical Abstracts, and Google Scholar searches (1970-May 2016) were conducted for case reports, case series, retrospective cohorts, or clinical trials using the key words: protein C deficiency, protein S deficiency, antithrombin deficiency, activated protein C resistance, Factor V Leiden, hypercoagulable, NOACs, dabigatran, apixaban, rivaroxaban, betrixaban, edoxaban, Xa inhibitor, direct thrombin inhibitor...
October 12, 2016: Journal of Thrombosis and Thrombolysis
Hyoung Soo Choi, Chang Won Choi, Heon Min Kim, Hye Won Park
BACKGROUND: While venous thromboembolism (VTE) is uncommon, its incidence is increasing in children. We aimed to evaluate the incidence, risk factors, treatment, and outcome of pediatric VTE cases at a single tertiary hospital in Korea. METHODS: We retrospectively analyzed the records of consecutive pediatric VTE patients admitted to the Seoul National University Bundang Hospital between April 2003 and March 2016. RESULTS: Among 70,462 hospitalizations, 25 pediatric VTE cases were identified (3...
September 2016: Blood Research
Rokea A El-Azhary, Michelle T Patzelt, Robert D McBane, Amy L Weaver, Robert C Albright, Alina D Bridges, Paul L Claus, Mark D P Davis, John J Dillon, Ziad M El-Zoghby, LaTonya J Hickson, Rajiv Kumar, Kathleen A M McCarthy-Fruin, Marian T McEvoy, Mark R Pittelkow, David A Wetter, Amy W Williams, James T McCarthy
OBJECTIVE: To identify coagulation risk factors in patients with calciphylaxis and the relationship between anticoagulation use and overall survival. PATIENTS AND METHODS: Study subjects were 101 patients with calciphylaxis seen at Mayo Clinic from 1999 to September 2014. Data including thrombophilia profiles were extracted from the medical records of each patient. Survival status was determined using patient registration data and the Social Security Death Index...
October 2016: Mayo Clinic Proceedings
Jingjing Su, Liang Shu, Zhou Zhang, Lei Cai, Xin Zhang, Yu Zhai, Jianren Liu
Antithrombin (AT) deficiency is an autosomal dominant disorder, and identification of mutation AT variants would improve our understanding of the anticoagulant function of this serine protease inhibitor (SERPIN) and the molecular pathways underlying this disorder. In the present study, we performed whole-exome sequencing of a Chinese family with deep vein thrombosis, and identified a new small deletion that eliminates four amino acids (INEL) from exon 4 of SERPINC1 gene. This causes type I AT deficiency by enhancing the intracellular retention of this protein...
September 30, 2016: Oncotarget
Marino Marčić, Ljiljana Marčić, Marina Titlić
Warfarin-induced skin necrosis (WISN) is a rare complication of anticoagulant therapy associated with a high incidence of  morbidity and mortality requiring immediate drug cessation. At particular risk are those with various thrombophilic abnormalities, especially when warfarinisation is undertaken rapidly with large loading doses of warfarin. Cutaneous findings include petechiae that progress to ecchymosis and hemorrhagic bullae. With the increasing number of patients anticoagulated as out-patients for thromboprophylaxis, we are concerned that the incidence of skin necrosis may increase...
August 2016: Acta Medica Iranica
Zsuzsanna Bereczky, Réka Gindele, Marianna Speker, Judit Kállai
Venous thrombosis is a typical common complex disease as acquired and genetic causes play a role in its development. The different "loss of function" mutations of the natural anticoagulant system lead to antithrombin (AT), protein C (PC) and protein S (PS) deficiencies. Since thrombophilia testing has high cost and it has several methodological issues (analytical, pre-analytical), which makes the interpretation of results difficult, considerations should be made on the indications of testing, on the parameters that are measured and on the best available method to use...
April 2016: EJIFCC
Cristina Hotoleanu
Genetic risk factors predispose to thrombophilia and play the most important etiopathogenic role in venous thromboembolism (VTE) in people younger than 50 years old. At least one inherited risk factor could be found in about half of the cases with a first episode of idiopathic VTE.Roughly, genetic risk factors are classified into two main categories: loss of function mutations (such as deficiencies of antithrombin, protein C, protein S) and gain of function mutations, (such as prothrombin mutation G20210A, factor V Leiden)...
September 17, 2016: Advances in Experimental Medicine and Biology
Judicael G Fazavana, Vincent Muczynski, Valerie Proulle, Nikolett Wohner, Olivier D Christophe, Peter J Lenting, Cécile V Denis
BACKGROUND: Recent findings point to activated factor VII (FVIIa) being cleared predominantly (±65% of the injected protein) as part of a complex with the serpin antithrombin. FVIIa/antithrombin complexes are targeted to hepatocytes and liver macrophages. Both cells lines abundantly express LRP1, a scavenger-receptor mediating clearance of protease/serpin complexes. OBJECTIVES: To investigate whether the FVIIa/antithrombin complex is a ligand for LRP1. METHODS: Binding of FVIIa and pre-formed FVIIa/antithrombin complexes to purified LRP1-fragment Cluster-IV (sLRP1-cIV/Fc) and to human & murine macrophages was analyzed...
September 10, 2016: Journal of Thrombosis and Haemostasis: JTH
Rance Nault, Kelly A Fader, Anna K Kopec, Jack R Harkema, Timothy R Zacharewski, James P Luyendyk
Emerging evidence supports a role for environmental chemical exposure in the pathology of non-alcoholic fatty liver disease (NAFLD), a disease process tightly linked to increased activity of the blood coagulation cascade. Exposure of C57BL/6 mice to the persistent environmental contaminant 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) recapitulates features of the NAFLD spectrum, including steatosis, hepatic injury, inflammation, and fibrosis. We assessed coagulation cascade activation, and determined the role of the thrombin receptor protease activated receptor-1 (PAR-1) in experimental TCDD-elicited NAFLD...
September 9, 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
Andrea Gerhardt, Rüdiger E Scharf, Ian A Greer, Rainer B Zotz
Venous thromboembolism (VTE) is a leading cause of maternal mortality. Few studies have evaluated the individual risk of gestational VTE associated with heritable thrombophilia and current recommendations for antenatal thromboprophylaxis in women with severe thrombophilia such as homozygous factor V Leiden mutation (FVL) depend on a positive family history of VTE. To better stratify thromboprophylaxis in pregnancy, we aimed to estimate the individual probability (absolute risk) of gestational VTE associated with thrombophilia and whether these risk factors are independent of a family history of VTE in first-degree relatives...
September 9, 2016: Blood
Hirofumi Maeba, Takeshi Seno, Ichiro Shiojima
A 22-year-old male was admitted to our hospital with deep vein thrombosis that was complicated by antithrombin deficiency. This deficiency was refractory to anticoagulation therapy. Although catheter-directed thrombolysis could not reperfuse the total occlusion in the left deep vein, a combination of thrombectomy, catheter-directed thrombolysis, and antithrombin concentrate treatment was able to dissolve the clots and ameliorate the blood flow into the left deep vein. Antithrombin concentrate administration would be effective in the treatment of antithrombin deficiency with medical refractory deep vein thrombosis...
September 28, 2016: International Heart Journal
Olcay Ünver, Gazanfer Ekinci, Büşra Işın Kutlubay, Thomas Gülten, Sağer Güneş, Nilüfer Eldeş Hacıfazlıoğlu, Dilşad Türkdoğan
AIM: We aimed to evaluate the patients who were followed up in our clinic with a diagnosis of cerebral sinovenous thrombosis in terms of age, sex, clinical findings, etiology, thrombophilic factors, imaging findings, treatment and prognosis. MATERIAL AND METHODS: The files of 11 patients who were followed up in our pediatric neurology clinic with a diagnosis of cerebral thrombosis between 1 December 2010 and 31 December 2014 were retrospectively analyzed. RESULTS: Seven of 11 patients were male (63...
June 2016: Türk Pediatri Arşivi
Christopher R Connelly, Philbert Y Van, Kyle D Hart, Scott G Louis, Kelly A Fair, Anfin S Erickson, Elizabeth A Rick, Erika C Simeon, Eileen M Bulger, Saman Arbabi, John B Holcomb, Laura J Moore, Martin A Schreiber
Importance: Prophylactic enoxaparin is used to prevent venous thromboembolism (VTE) in surgical and trauma patients. However, VTE remains an important source of morbidity and mortality, potentially exacerbated by antithrombin III or anti-Factor Xa deficiencies and missed enoxaparin doses. Recent data suggest that a difference in reaction time (time to initial fibrin formation) greater than 1 minute between heparinase and standard thrombelastogram (TEG) is associated with a decreased risk of VTE...
August 3, 2016: JAMA Surgery
Vybhav Jetty, Charles J Glueck, Richard A Freiberg, Ping Wang
Venous thromboembolism is uncommon after knee arthroscopy, and there are no guidelines for thromboprophylaxis in elective routine knee arthroscopy. Preoperative evaluation of common thrombophilias should provide guidance for postarthroscopy thromboprophylaxis in otherwise healthy patients who are at high risk for venous thromboembolism. This study assessed 10 patients with venous thromboembolism after total hip or knee arthroplasty. Patients were assessed if venous thromboembolism occurred within 6 months after knee arthroscopy (n=10) or total hip or knee arthroplasty (n=21)...
July 25, 2016: Orthopedics
Mara Toderici, María Eugenia de la Morena-Barrio, José Padilla, Antonia Miñano, Ana Isabel Antón, Juan Antonio Iniesta, María Teresa Herranz, Nuria Fernández, Vicente Vicente, Javier Corral
[This corrects the article DOI: 10.1371/journal.pone.0152159.].
2016: PloS One
Dhruva J Dwivedi, Peter M Grin, Momina Khan, Annik Prat, Ji Zhou, Alison E Fox-Robichaud, Nabil G Seidah, Patricia C Liaw
INTRODUCTION: Proprotein convertase subtilisin/kexin type 9 (PCSK9) targets lipoprotein receptors for degradation, thereby reducing hepatic lipid clearance. PCSK9 inhibition reduces mortality in septic mice, presumably through increased hepatic clearance of pathogen lipids due to increased lipoprotein receptor concentrations. However, PCSK9 overexpression in vivo has not been studied in sepsis. Therefore, this study aimed to evaluate the effects of differential PCSK9 expression on systemic infection, inflammation and coagulation in sepsis...
July 11, 2016: Shock
Nada Aracic, Damir Roje, Ivana Alujevic Jakus, Marinela Bakotin, Vedran Stefanovic
PURPOSE: To assess the distribution of births and spontaneous abortions, first-trimester abortion (FTA) and mid-trimester abortion (MTA), in untreated (n=128) and low molecular weight heparin (LMWH) treated pregnancies (n=50) of the same women with inherited thrombophilias and adverse pregnancy outcome (APO) in previous pregnancies. We particularly investigated the impact of LMWH on reducing the pregnancy complications in two thrombophilia types, "Conventional" and "Novel". MATERIALS AND METHODS: 50 women with inherited thrombophilia (26 Conventional and 24 Novel) and APO in previous pregnancies were included in the study...
September 2016: Yonsei Medical Journal
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