keyword
MENU ▼
Read by QxMD icon Read
search

venous thrombosis genetics

keyword
https://www.readbyqxmd.com/read/28730407/venous-thromboembolism-thrombosis-inflammation-and-immunothrombosis-for-clinicians
#1
REVIEW
Eduardo Vazquez-Garza, Carlos Jerjes-Sanchez, Aline Navarrete, Jorge Joya-Harrison, David Rodriguez
Venous thromboembolism (VTE) is a worldwide disease related with mortality, cardiovascular disability, impaired quality of life and, cause major long-term complications. Clinicians related to the acute and long-term patients care must be involved in the molecular mechanisms of thrombosis. The vessel wall and its inner lining of the endothelium are critical to the maintenance of a patent vasculature. After endothelial disruption, collagen (first line of endothelial defense) and intravascular tissue factor (second line of endothelial defense) are exposed to blood flow, starting the formation of a thrombus...
July 20, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28715512/mouse-models-of-deep-vein-thrombosis
#2
T Schönfelder, S Jäckel, P Wenzel
The pathogenesis of venous thromboembolism (VTE) is still not completely understood. Experimental animals in which human deep vein thrombosis can be modeled are useful tools to investigate the pathogenesis of VTE. Besides the availability of transgenic and genetically modified mice, the use of high frequency ultrasound and intravital microscopy plays an important role in identifying thrombotic processes in mouse models. In this article, an overview about the application of various new technologies and existing mouse models is provided, and the impact of venous side branches on deep vein thrombosis in the mouse model is discussed...
2017: Gefässchirurgie: Zeitschrift Für Vaskuläre und Endovaskuläre Chirurgie
https://www.readbyqxmd.com/read/28710034/association-of-thrombomodulin-c-1418c-t-polymorphism-and-venous-thromboembolism
#3
Bei Hu, Qing-Yun Wang, Liang Tang, Yu Hu
OBJECTIVES: To investigate the association between thrombomodulin c.1418C>T polymorphism and venous thrombosis. METHODS: Systematic searches of Pubmed, EMBASE, Chinese Biomedical Database, Chinese National Knowledge Infrastructure, the VIP Database and WANFANG Database were performed. Pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated to assess the strength of the association. Subgroup analysis was conducted to seek for potential sources of heterogeneity...
July 11, 2017: Gene
https://www.readbyqxmd.com/read/28698781/idiopathic-pulmonary-embolism-in-a-case-of-severe-family-ankrd26-thrombocytopenia
#4
Jerome Guison, Gilles Blaison, Oana Stoica, Remy Hurstel, Marie Favier, Remy Favier
Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a woman affected by deep vein thrombosis and pulmonary embolism in a thrombocytopenic context leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with lower-limb deep vein thrombosis complicated by pulmonary embolism. Severe thrombocytopenia was observed. The genetic study evidenced a heterozygous FV Leiden mutation...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28694860/postpartum-aortic-bifurcation-thrombosis-on-the-background-of-thrombophilic-disorder
#5
Roxana Elena Bohîltea, Natalia Turcan, Horia Muresian, Silvia Condu, Elvira Bratila, Monica Mihaela Cîrstoiu
Two main causes of arterial thrombosis are known: fi rst - atherosclerosis, extensively studied, and the second - atrial fi brillation. The lack of any risk factors and the occurrence at young age of a thrombotic event requires us to investigate possible other conditions, including inherited thrombophilia that is represented by a series of genetic disorders that increase the risk of thromboembolic disease. The role of thrombophilia in the occurrence of arterial thrombosis is inconsequential; this disorder is characterized by the tendency of developing venous thrombosis...
September 2016: Mædica
https://www.readbyqxmd.com/read/28688874/the-role-of-endothelial-dysfunction-and-inflammation-in-chronic-venous-disease
#6
REVIEW
Ricardo Castro-Ferreira, Rita Cardoso, Adelino Leite-Moreira, Armando Mansilha
Chronic venous disease is a potentially prevalent and debilitating condition affecting millions of individuals, mostly in western world. Predisposing genetic and environmental factors contribute to its development. However, the main etiology remains to be elucidated. An extensive literature search was conducted in Medline using the following key words algorithm: ("Chronic venous disease" OR "Chronic venous insufficiency" OR "varicose veins") AND ("endothelial dysfunction" OR "inflammation"). Besides being a multifactorial disease, it is now recognized that the hallmark of chronic venous disease pathophysiology likely remains in inflammation, possibly triggered by sustained venous hypertension and valvular incompetence...
July 5, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28686706/plasminogen-tochigi-mice-exhibit-phenotypes-similar-to-wild-type-mice-under-experimental-thrombotic-conditions
#7
Yuko Tashima, Fumiaki Banno, Toshiyuki Kita, Yasuyuki Matsuda, Hiroji Yanamoto, Toshiyuki Miyata
Plasminogen (Plg) is a precursor of plasmin that degrades fibrin. A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a patient with recurrent venous thromboembolism, causes dysplasminogenemia with reduced plasmin activity. The Plg-A620T mutation is present in 3-4% of individuals in East Asian populations, and as many as 50,000 Japanese are estimated to be homozygous for the mutant 620T allele. In the present study, to understand the changes of thrombotic phenotypes in individuals with the mutant 620T allele, we generated knock-in mice carrying the homozygous Plg-A622T mutation (PlgT/T), an equivalent to the A620T mutation in human Plg...
2017: PloS One
https://www.readbyqxmd.com/read/28668241/patient-satisfaction-and-experience-with-intravenously-administered-c1-inhibitor-concentrates-in-the-united-states
#8
Marc A Riedl, Aleena Banerji, Paula J Busse, Douglas T Johnston, Mark A Davis-Lorton, Shital Patel, Howard Parr, Joseph Chiao, Douglas J Watson, Earl Burrell, Thomas Machnig
BACKGROUND: Hereditary angioedema (HAE) is a rare genetic disorder with substantial morbidity and mortality. Despite expanded choices for effective acute treatment, prophylactic options are more limited. Intravenous C1 esterase inhibitor (C1-INH[IV]) is licensed and used to prevent HAE symptoms. OBJECTIVE: To better understand patient experiences with using C1-INH(IV), including level of satisfaction and types and frequency of complications. METHODS: Fifty adult members (≥18 years of age) of the US HAE Association who had HAE type I or II completed a self-administered internet survey...
July 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28615140/imaging-features-of-myeloproliferative-neoplasms
#9
REVIEW
I G Murphy, E L Mitchell, L Raso-Barnett, A L Godfrey, E M Godfrey
Myeloproliferative neoplasms (MPNs) are a heterogeneous group of haematological disorders including polycythaemia vera (PV), essential thrombocythaemia (ET), primary myelofibrosis (PMF), and chronic myeloid leukaemia (CML). These disorders show large overlap in genetic and clinical presentations, and can have many different imaging manifestations. Unusual thromboses, embolic events throughout the systemic or pulmonary vasculature, or osseous findings can often be clues to the underlying disease. There is limited literature about the imaging features of these disorders, and this may result in under-diagnosis...
June 11, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28598535/functional-impairment-and-risk-of-venous-thrombosis-in-older-adults
#10
Marissa J Engbers, Jeanet W Blom, Mary Cushman, Frits R Rosendaal, Astrid van Hylckama Vlieg
OBJECTIVES: To determine the role of age-specific risk factors for thrombosis in older age, such as functional impairment. DESIGN: Case-control study. SETTING: The Age and Thrombosis-Acquired and Genetic risk factors in the Elderly Study, a two-center study conducted in the Netherlands and the United States from 2008 to 2011. PARTICIPANTS: Individuals aged 70 and older with a first-time deep venous thrombosis in the leg or pulmonary embolism (n = 401) and controls aged 70 and older (n = 431) without a history of thrombosis...
June 9, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28579309/genetic-variation-in-the-first-pass-metabolism-of-ethinylestradiol-sex-hormone-binding-globulin-levels-and-venous-thrombosis-risk
#11
Bernardine H Stegeman, Hans L Vos, Frans M Helmerhorst, Frits R Rosendaal, Pieter H Reitsma, Astrid van Hylckama Vlieg
BACKGROUND: Use of ethinylestradiol, one of the active ingredients in combined oral contraceptives, affects the incidence of venous thrombosis. To explain why some women develop thrombosis when using oral contraceptives and others do not, we hypothesized a role for the first-pass metabolism of ethinylestradiol in the liver. We set out to determine the association between genetic variation in the first-pass metabolism of ethinylestradiol, venous thrombosis risk and the effect on Sex-hormone-binding-globulin (SHBG) levels...
July 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28552956/sex-specific-effect-of-cpb2-ala147thr-but-not-thr325ile-variants-on-the-risk-of-venous-thrombosis-a-comprehensive-meta-analysis
#12
Nora Zwingerman, Alejandra Medina-Rivera, Irfahan Kassam, Michael D Wilson, Pierre-Emmanuel Morange, David-Alexandre Trégouët, France Gagnon
BACKGROUND: Thrombin activatable fibrinolysis inhibitor (TAFI), encoded by the Carboxypeptidase B2 gene (CPB2), is an inhibitor of fibrinolysis and plays a role in the pathogenesis of venous thrombosis. Experimental findings support a functional role of genetic variants in CPB2, while epidemiological studies have been unable to confirm associations with risk of venous thrombosis. Sex-specific effects could underlie the observed inconsistent associations between CPB2 genetic variants and venous thrombosis...
2017: PloS One
https://www.readbyqxmd.com/read/28540474/lipid-levels-and-risk-of-venous-thrombosis-results-from-the-mega-study
#13
Vânia M Morelli, Willem M Lijfering, Mettine H A Bos, Frits R Rosendaal, Suzanne C Cannegieter
The relationship between lipid levels and risk of venous thrombosis is not well established. We aimed to assess the association between several lipids and risk of venous thrombosis using data from a population-based case-control study, and to evaluate the underlying mechanism, considering confounding by common risk factors and mediation via hemostatic factors and C-reactive protein. From the Multiple Environmental and Genetic Assessment of risk factors for venous thrombosis (MEGA) study, 2234 patients with a first venous thrombosis and 2873 controls were included...
May 24, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28488549/prevalence-of-1691g-a-f5-20210g-a-f2-and-677c-t-mthfr-polymorphisms-in-bosnian-women-with-pregnancy-loss
#14
Emir Mahmutbegovic, Damir Marjanovic, Edin Medjedovic, Nevena Mahmutbegovic, Serkan Dogan, Amina Valjevac, Ewa Czerska, Anna Pawińska-Matecka, Agnieszka Madlani, Grazyna Adler
The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs1801133), F2 G>A (rs1800595) and MTHFR C>T (rs1801020) polymorphisms in Bosnian women...
May 10, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28474148/sildenafil-related-cerebral-venous-sinus-thrombosis-and-papilledema-a-case-report-of-a-rare-entity
#15
Dilek Top Karti, Omer Karti, Dilara Aktert, Figen Gokcay, Nese Celebisoy
We present a rare case of cerebral venous sinus thrombosis associated with long-term and high-dose use of sildenafil. A 29-year-old man was referred to our neuroophthalmology clinic for bilateral visual deterioration and severe headache. He had stage 2 papilledema and other clinical and neurological examinations were normal. He had used the drug for nearly 2 years, two to three times a day. All laboratory parameters including blood count cell, coagulation panels, and genetic tests including methylene-tetrahydrofolate reductase and factor V Leiden mutation were unremarkable...
May 4, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28445521/next-generation-sequencing-to-dissect-the-genetic-architecture-of-kng1-and-f11-loci-using-factor-xi-levels-as-an-intermediate-phenotype-of-thrombosis
#16
Laura Martin-Fernandez, Giovana Gavidia-Bovadilla, Irene Corrales, Helena Brunel, Lorena Ramírez, Sonia López, Juan Carlos Souto, Francisco Vidal, José Manuel Soria
Venous thromboembolism is a complex disease with a high heritability. There are significant associations among Factor XI (FXI) levels and SNPs in the KNG1 and F11 loci. Our aim was to identify the genetic variation of KNG1 and F11 that might account for the variability of FXI levels. The KNG1 and F11 loci were sequenced completely in 110 unrelated individuals from the GAIT-2 (Genetic Analysis of Idiopathic Thrombophilia 2) Project using Next Generation Sequencing on an Illumina MiSeq. The GAIT-2 Project is a study of 935 individuals in 35 extended Spanish families selected through a proband with idiopathic thrombophilia...
2017: PloS One
https://www.readbyqxmd.com/read/28420787/activation-of-nlrp3-inflammasome-complex-potentiates-venous-thrombosis-in-response-to-hypoxia
#17
Neha Gupta, Anita Sahu, Amit Prabhakar, Tathagata Chatterjee, Tarun Tyagi, Babita Kumari, Nilofar Khan, Velu Nair, Nitin Bajaj, Manish Sharma, Mohammad Zahid Ashraf
Venous thromboembolism (VTE), caused by altered hemostasis, remains the third most common cause of mortality among all cardiovascular conditions. In addition to established genetic and acquired risk factors, low-oxygen environments also predispose otherwise healthy individuals to VTE. Although disease etiology appears to entail perturbation of hemostasis pathways, the key molecular determinants during immediate early response remain elusive. Using an established model of venous thrombosis, we here show that systemic hypoxia accelerates thromboembolic events, functionally stimulated by the activation of nucleotide binding domain, leucine-rich-containing family, pyrin domain containing 3 (NLRP3) inflammasome complex and increased IL-1β secretion...
May 2, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28405673/gly74ser-mutation-in-protein-c-causes-thrombosis-due-to-a-defect-in-protein-s-dependent-anticoagulant-function
#18
Changming Chen, Likui Yang, Bruno O Villoutreix, Xuefeng Wang, Qiulan Ding, Alireza R Rezaie
Protein C is a vitamin K-dependent serine protease zymogen in plasma which upon activation by thrombin in complex with thrombomodulin (TM) down-regulates the clotting cascade by a feedback loop inhibition mechanism. Activated protein C (APC) exerts its anticoagulant function through protein S-dependent degradation of factors Va and VIIIa. We recently identified a venous thrombosis patient whose plasma level of protein C antigen is normal, but its anticoagulant activity is only 34 % of the normal level. Genetic analysis revealed that the proband and her younger brother carry a novel heterozygous mutation c...
June 28, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28357186/lesch-nyhan-syndrome-the-saga-of-metabolic-abnormalities-and-self-injurious-behavior
#19
Nitesh Tewari, Vijay Prakash Mathur, Divesh Sardana, Kalpana Bansal
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e. signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic testing, confirms the diagnosis of LNS. With a level of hypoxanthine guanine phosphoribosyl-transferase 1 (HPRT1) enzyme activity < 2%, patients develop neurological, neurocognitive, and neuromotor symptoms along with SIB...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28352625/inherited-thrombophilia-in-pediatric-venous-thromboembolic-disease-why-and-who-to-test
#20
REVIEW
C Heleen van Ommen, Ulrike Nowak-Göttl
Venous thromboembolic disease in childhood is a multifactorial disease. Risk factors include acquired clinical risk factors such as a central venous catheter and underlying disease and inherited thrombophilia. Inherited thrombophilia is defined as a genetically determined tendency to develop venous thromboembolism. In contrast to adults, acquired clinical risk factors play a larger role than inherited thrombophilia in the development of thrombotic disease in children. The contributing role of inherited thrombophilia is not clear in many pediatric thrombotic events, especially catheter-related thrombosis...
2017: Frontiers in Pediatrics
keyword
keyword
2808
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"