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venous thrombosis genetics

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
F R Rosendaal
Venous thrombosis which mainly manifests as deep vein thrombosis of the leg or pulmonary embolism occurs in 1 per 1000 per year. It occurs due to interacting genetic, environmental and behavioral risk factors. The strongest risk factors are certain types of surgery and malignancies. Over the last decade many new risk factors for venous thrombosis have been identified. Venous thrombosis has a high recurrence rate, of around 5 % per year. Whereas clinically it would be most important to identify patients at risk of recurrence, only male sex and a previous unprovoked thrombosis are established determinants of recurrent thrombosis...
2016: Thrombosis Journal
Marta Crous-Bou, Laura B Harrington, Christopher Kabrhel
Venous thromboembolism (VTE) includes deep vein thrombosis and pulmonary embolism, and a combination of environmental and genetic risk factors contributes to VTE risk. Within environmental risk factors, some are provoking (e.g., cancer, surgery, trauma or fracture, immobilization, pregnancy and the postpartum period, long-distance travel, hospitalization, catheterization, and acute infection) and others are nonprovoking (e.g., age, sex, race/ethnicity, body mass index and obesity, oral contraceptive or hormone therapy use, corticosteroid use, statin use, diet, physical activity, sedentary time, and air pollution)...
October 20, 2016: Seminars in Thrombosis and Hemostasis
Tahir Bezgin, Cihangir Kaymaz, Özgür Akbal, Fatih Yılmaz, Hacer Ceren Tokgöz, Nihal Özdemir
BACKGROUND: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the role of inherited thrombophilia as a causative or additive factor in the development of VTE. METHODS: The study included 310 patients (female: 154; mean age: 52.3 ± 16.9 years) with a first episode of VTE and 289 age- and sex-matched healthy controls...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
A Eroğlu, G G Ceylan, E Ozturk, A Yalcin, B Yalcin, D Karasoy
UNLABELLED: Venous thromboembolism (VTE) is one of the most common complications in cancer patients. Although factor V Leiden (FVL) is the most common genetic defect causing thrombosis, the impact of gene abnormalities on thrombotic tendency in cancer patients remains poorly explored. Tissue factor (TF) is a major physiologic initiator of blood coagulation. This is the first study regarding the association of TF gene -603A/G and +5466A>G polymorphisms with VTE in malignancy. Materials and Me-thods: The study consists of two groups: cancer patients with VTE were included as Group 1 (n = 46); Group 2 comprises 196 cancer patients without VTE...
September 2016: Experimental Oncology
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
Yuri Nakamura, Kei-Ichiro Takase, Takuya Matsushita, Satoshi Yoshimura, Ryo Yamasaki, Hiroyuki Murai, Kazufumi Kikuchi, Jun-Ichi Kira
A 34-year-old man presented with an acute onset of upbeat nystagmus, slurred speech, and limb and truncal ataxias. The patient had a history of limb ataxia and gait disturbance previously treated as brainstem encephalitis with corticosteroids 3 years previously. Brain magnetic resonance imaging showed pontine developmental venous anomaly (DVA) and hemorrhagic infarction within the drainage territory of the DVA. Three months later, the patient exhibited recurrent limb ataxia, double vision, and numbness of the left side of the body...
September 19, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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
Patrícia Abrantes, Alexandra Rosa, Vânia Francisco, Inês Sousa, Joana M Xavier, Sofia A Oliveira
BACKGROUND AND AIMS: Peripheral arterial disease (PAD) and venous thromboembolism (VTE) are vascular traits sharing common modifiable and non-modifiable risk factors. These vascular pathologies have known nuclear-encoded genetic risk factors and the mitochondrial DNA may account for part of the missing heritability. To determine if PAD and VTE have a dual genetic control (mitochondrial and nuclear), we hereby investigated the association of mitochondrial DNA polymorphisms and haplogroups with these vascular traits...
September 2016: Atherosclerosis
Victor F Tapson
Pulmonary embolism (PE) is a leading cause of mortality worldwide. Recognizing PE and administering anticoagulants can significantly improve patient outcomes by reducing mortality rates and preventing recurrent events. For more than 50 years, standard therapy has involved parenteral anticoagulation followed by long-term therapy with the vitamin K antagonist warfarin. However, management of warfarin therapy is challenging due to its narrow therapeutic range and interactions with genetic and environmental factors...
August 2016: Hospital Practice (Minneapolis)
Andrew S Kimball, Andrea T Obi, Jose A Diaz, Peter K Henke
Venous thrombosis (VT), a leading cause of morbidity and mortality worldwide, has recently been linked to neutrophil activation and release of neutrophil extracellular traps (NETs) via a process called NETosis. The use of various in vivo thrombosis models and genetically modified mice has more precisely defined the exact role of NETosis in the pathogenesis of VT. Translational large animal VT models and human studies have confirmed the presence of NETs in pathologic VT. Activation of neutrophils, with subsequent NETosis, has also been linked to acute infection...
2016: Frontiers in Immunology
Mehmet Sevki Uyanik, Mehmet Baysal, Gulsum Emel Pamuk, Muhammet Maden, Mustafa Akker, Elif Gulsum Umit, Muzaffer Demir, Erkan Aydogdu
The most common genetic disorder in Philadelphia negative chronic myeloproliferative neoplasms is the JAK2-V617F mutation. In the present study, we aimed to determine risk factors for thrombosis in patients with essential thrombocytosis and polycythemia vera. We screened the medical records of 101 patients. Risk factors which may predict thrombosis were recorded. Venous thrombosis (VT) before diagnosis was significantly higher in JAK2 positive patients. VT after diagnosis was similar in JAK2 positive and negative groups, and was significantly higher in elderly patients...
September 2016: Indian Journal of Hematology & Blood Transfusion
Pierre Suchon, Fadi Al Frouh, Manal Ibrahim, Gabrielle Sarlon, Geoffroy Venton, Marie-Christine Alessi, David-Alexandre Trégouët, Pierre-Emmanuel Morange
Identifying women at risk of venous thrombosis (VT) under combined oral contraceptives (COC) is a major public health issue. The aim of the present study was to investigate in COC users the impact on disease of genetic polymorphisms recently identified to associate with VT risk in the general population. Nine polymorphisms located on KNG1, F11, F5,F2,PROCR,FGG, TSPAN15andSLC44A2geneswere genotyped in a sample of 766 patients and 464 controls part of the PILGRIM (Pill Genetic Risk Monitoring) study. Cases were women who experienced an episode of documented VT during COC use while controls were women with no history of VT using COC at the time of inclusion...
July 14, 2016: Clinical Genetics
João Vilhena, Henrique Vicente, M Rosário Martins, José M Grañeda, Filomena Caldeira, Rodrigo Gusmão, João Neves, José Neves
Thrombophilia stands for a genetic or an acquired tendency to hypercoagulable states that increase the risk of venous and arterial thromboses. Indeed, venous thromboembolism is often a chronic illness, mainly in deep venous thrombosis and pulmonary embolism, requiring lifelong prevention strategies. Therefore, it is crucial to identify the cause of the disease, the most appropriate treatment, the length of treatment or prevent a thrombotic recurrence. Thus, this work will focus on the development of a diagnosis decision support system in terms of a formal agenda built on a logic programming approach to knowledge representation and reasoning, complemented with a case-based approach to computing...
August 2016: Journal of Biomedical Informatics
Honggang Ren, Yue Zhang, Yonghua Yao, Tao Guo, Huafang Wang, Heng Mei, Yu Hu
Studies investigating the association between interleukin-6 (IL-6) gene-174 G/C polymorphism (rs1800795) and thrombosis disorder risk reported conflicting results. The aim of our study was to assess the association between the IL-6 gene 174 G/C polymorphisms and the risk of thrombosis disorders.Thirty four case-control studies in 29 articles with 29,865 individuals were incorporated in this meta-analysis by searching the public databases including Medline, Embase, and ISI Web of Science databases as of June 1st, 2015...
July 2016: Medicine (Baltimore)
Mustapha A El Lakis, Agostino Pozzi, Jad Chamieh, Bassem Safadi
BACKGROUND: Portomesenteric vein thrombosis following laparoscopic bariatric surgical procedures is a serious and potentially lethal complication. It is quite rare, and its clinical presentation, management, and sequelae remain poorly understood. METHODS: We searched PubMed, Medline, Google Scholar, Ovid, and Cochrane databases for articles reporting case series and systematic reviews in the English language on patients who underwent laparoscopic bariatric surgery and had a subsequent portal or mesenteric vein thrombosis...
July 7, 2016: Surgical Endoscopy
A Karasu, M J Engbers, M Cushman, F R Rosendaal, A van Hylckama Vlieg
UNLABELLED: Essentials Risk of venous thrombosis (VT) related to common genetic variants in those aged 70+ is unknown. We studied Factor V Leiden, prothrombin mutation, non-O blood group and family history (FH) of VT. Risk of VT was increased 2.2-, 1.4-, 1.3- and 2.1-fold respectively. FH is easy to obtain and can be implemented in clinical decision rules of VT risk in the elderly. Click to hear Prof. Reitsma discuss genetic risk factors of arterial and venous thrombosis SUMMARY: Background As the incidence of venous thrombosis (VT) increases steeply with age and the number of elderly people is on the rise, studies of VT in this age group are important...
September 2016: Journal of Thrombosis and Haemostasis: JTH
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No abstract text is available yet for this article.
June 2016: Annals of Intensive Care
Xiaoli Cheng, Mingshan Wang, Minghua Jiang, Pravin A Bhugul, Xiuping Hao, Lihong Yang
Hereditary protein C (PC) deficiency and congenital plasminogen (PLG) deficiency are both factors of thrombophilia which were caused by PC and PLG gene mutations with the characteristics of activity and antigen decreasing inconsonantly. To illustrate the connection between gene mutations and the corresponding deficiencies of PC and PLG, we studied two related cases. The proband 1 showed a cranial venous sinus thrombosis with reduced activities of PC and PLG, 55 and 56%, respectively. And the proband 2 was his asymptomatic nephew who had a reduced PC activity of 27%...
June 16, 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Juraj Chudej, Ivana Plameňová
INTRODUCTION: Factor V Leiden (FVL) and prothrombin G20210A mutation (PTM) are the two most common genetic polymorphisms known to predispose to a first episode of venous thromboembolism (VTE). PTM is present in 2 % Caucasian population. The main aim of this study was to identify the PTM in the patients with positive history of thrombotic events vs. control subjects. MATERIALS AND METHODS: The assessment of PTM was performed by the PCR analysis of the chromosomal DNA, which was isolated from the peripheral blood leukocytes...
April 2016: Vnitr̆ní Lékar̆ství
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