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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
Salvatore Santo Signorelli, Fiore Valerio, Castrogiovanni Davide, Gea Oliveri Conti, Fiore Maria, Morana Ignazio, Ferrante Margherita
Study on 295 consecutive medical patients to evaluate the potential of routine blood tests to identify the risk of deep vein thrombosis (DVT). The tests included in a DVT risk stratification model system were erythrocyte sedimentation rate, antithrombin III, C-reactive protein, D-dimer, and N-terminal pro-brain natriuretic peptide. The DVT risk stratification system was moderately prognostic (area under the curve: 0.838; 95% confidence interval: 0.771-0.904; P < .001), whereas its performance was as follows-sensitivity, 100%; specificity, 20%; positive predictive value, 21%; and negative predictive value, 100%...
October 20, 2016: Angiology
Bengt Zöller, Xinjun Li, Henrik Ohlsson, Jianguang Ji, Ashfaque A Memon, Peter J Svensson, Karolina Palmér, Björn Dahlbäck, Jan Sundquist, Kristina Sundquist
Familial aggregation (clustering) of venous thromboembolism (VTE) is the clustering of VTE within a family. Though several genes, such as antithrombin, protein C, protein S, factor V, and prothrombin are associated with the familial clustering of VTE, these loci only partially explain the familial aggregation of VTE. The epidemiology of the familial aggregation of VTE exhibits typical characteristics of complex traits. The family history of VTE in first-degree relatives is associated with a two to three times increased familial relative risk (FRR)...
October 20, 2016: Seminars in Thrombosis and Hemostasis
Z Riedelová-Reicheltová, E Brynda, T Riedel
Fibrin is a versatile biopolymer that has been extensively used in tissue engineering. In this paper fibrin nanostructures prepared using a technique based on the catalytic effect of fibrin-bound thrombin are presented. This technique enables surface-attached thin fibrin networks to form with precisely regulated morphology without the development of fibrin gel in bulk solution. Moreover, the influence of changing the polymerization time, along with the antithrombin III and heparin concentrations on the morphology of fibrin nanostructures was explored...
October 20, 2016: Physiological Research
Dmitri Bezinover, Shigekazu Sugino, Yuka Imamura-Kawasawa, Matthew S Bell, Zakiyah Kadry, Piotr K Janicki
We describe a case of fulminant intraoperative thrombosis during deceased donor liver transplantation. Despite significant medical bleeding, the patient suddenly developed diffuse thrombosis in all chambers of the heart and pulmonary vasculature resulting in intraoperative death. The patient's postmortem genetic analysis demonstrated a deleterious missense mutation in a coagulation pathway gene, SERPINC1, which codes for antithrombin III. The level of antithrombin III was not available to directly prove the causality of thrombosis, but our findings suggest that this mutation, in combination with antifibrinolytic administration in a hypercoagulable cirrhotic patient, might have contributed to the development of this catastrophic thrombotic event...
October 5, 2016: A & A Case Reports
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
P Pardes-Chavanes, M Afanetti, C Boyer, M Poirée
Intracerebral hemorrhage (ICH) remains a cause of death in hematologic malignancies. Asparaginase represents a key agent in the treatment of acute lymphoblastic leukemia (ALL). The toxicity of asparaginase includes coagulopathy such as thrombotic or bleeding tendency. We report a case of fatal cerebral hemorrhage in a 12-year-old girl treated for ALL. Cerebral hemorrhage occurred after three injections of L-asparaginase. The patient presented with hypofibrinogenemia (0.36g/L), associated with thrombocytopenia (24,000/mm(3))...
October 12, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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
Takumi Aota, Hideo Wada, Naoki Fujimoto, Yoshiki Yamashita, Takeshi Matsumoto, Kohshi Ohishi, Kei Suzuki, Hiroshi Imai, Masanobu Usui, Shuji Isaji, Toshimasa Uchiyama, Yoshinobu Seki, Naoyuki Katayama
We evaluated the diagnostic criteria for disseminated intravascular coagulation (DIC), which was published by the Japanese Society of Thrombosis and Hemostasis (JSTH), in 232 patients with suspected DIC without hematopoietic injury or infection. The diagnoses of the patients were as follows: DIC (n = 116), pre-DIC (n = 54), and non-DIC (n = 63). The efficacy of the diagnostic criteria for DIC was evaluated using a receiver operating characteristic analysis. The area under the curve and odds ratio for the global coagulation test (GCT) scores in the diagnosis of "DIC" were high, whereas those for the diagnosis of "DIC and pre-DIC" were low, suggesting that the addition of a reduced platelet count (RPC), antithrombin (AT), and soluble fibrin (SF)/thrombin AT (TAT) complex was required to diagnose DIC and pre-DIC...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
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
Anass Bouchnita, Tatiana Galochkina, Vitaly Volpert
Blood coagulation is regulated through a complex network of biochemical reactions of blood factors. The main acting enzyme is thrombin whose propagation in blood plasma leads to fibrin clot formation. Spontaneous clot formation is normally controlled through the action of different plasma inhibitors, in particular, through the thrombin binding by antithrombin. In the current study we develop a mathematical model of clot formation both in quiescent plasma and in blood flow and determine the analytical conditions on the antithrombin concentration corresponding to different regimes of blood coagulation...
October 7, 2016: Acta Biotheoretica
Laura Mourino-Alvarez, Montserrat Baldan-Martin, Laura Gonzalez-Calero, Carlos Martinez-Laborde, Tamara Sastre-Oliva, Rafael Moreno-Luna, Luis F Lopez-Almodovar, Pedro L Sanchez, Francisco Fernandez-Aviles, Fernando Vivanco, Luis R Padial, Finn Akerstrom, Gloria Alvarez-Llamas, Fernando de la Cuesta, María G Barderas
BACKGROUND: The most common valve diseases are calcific aortic stenosis (AS) and aortic regurgitation (AR). The former is characterized by thickening of valve leaflets followed by progressive calcification, which produces progressive aortic valve (AV) narrowing, increased pressure afterload on the left ventricle (LV) and subsequent LV hypertrophy. On the other hand, AR is due to malcoaptation of the valve leaflets with resultant diastolic reflux of blood from aorta back to the LV producing volume and pressure overload and progressive LV dilatation...
September 26, 2016: International Journal of Cardiology
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
Takumi Aota, Hideo Wada, Naoki Fujimoto, Kazushi Sugimoto, Yoshiki Yamashita, Takeshi Matsumoto, Kohshi Ohishi, Kei Suzuki, Hiroshi Imai, Kazuo Kawasugi, Seiji Madoiwa, Hidesaku Asakura, Naoyuki Katayama
OBJECTIVE: We evaluated the modified diagnostic criteria for disseminated intravascular coagulation (DIC), which was published by the Japanese Society of Thrombosis and Hemostasis (JSTH), in 274 suspected DIC patients with hematopoietic injury. MATERIALS AND METHODS: The diagnoses of the patients were as follows: DIC (n=125); pre-DIC (n=42) and non-DIC (n=107). The efficacy of the diagnostic criteria for DIC was evaluated using a receiver operating characteristic (ROC) analysis...
September 28, 2016: Thrombosis Research
Hidesaku Asakura, Hoyu Takahashi, Toshimasa Uchiyama, Yutaka Eguchi, Kohji Okamoto, Kazuo Kawasugi, Seiji Madoiwa, Hideo Wada
Disseminated intravascular coagulation (DIC) is a serious disease that, in the presence of underlying disease, causes persistent, generalized, marked coagulation activation. Early treatment based on an appropriate diagnosis is very important for improving patients' prognosis, to which end diagnostic criteria play a key role. Several criteria have been proposed, but each has its strengths and weaknesses, and improved criteria are needed. Widespread use of coagulofibrinolytic markers has elucidated that the pathology of DIC differs greatly as a function of the underlying disease...
2016: Thrombosis Journal
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
Markus Denzinger, Helena Hinkel, Julia Kurz, Teresa Hierlemann, Christian Schlensak, Hans Peter Wendel, Stefanie Krajewski
BACKGROUND: Chitosan is used in a wide field of applications and therapies and has been reported to be an effective hemostyptic. The objective of this study was to provide further information about the use of chitosan as a hemostyptic agent also taking into focus its hemocompatible effects. METHODS: Human whole blood (n=5) was anticoagulated with heparin, treated with different chitosan concentrations (0, 2.5, 5, 7.5, 10, 12.5, 25 mg/mL) and incubated at 37°C for 30 minutes...
September 28, 2016: Bio-medical Materials and Engineering
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
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