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venous thrombosis genetics

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https://www.readbyqxmd.com/read/27897087/nuclear-imaging-of-thrombosis-in-small-animal
#1
Marie-Cécile Valéra, Bernard Payrastre, Olivier Lairez
Thromboembolic disorders are a major cause of morbidity and mortality worldwide. The progress in noninvasive imaging techniques has led to the development of radionuclide imaging based on SPECT and PET approaches to observe molecular and cellular processes that may underlie the onset and progression of disease. The advantages of using normal and genetically modified small animal research have spurred the development of dedicated small animal imaging systems. Animal models of venous and arterial thrombosis are largely used and have improved our understanding of the etiology and pathogenesis of thrombosis...
November 29, 2016: Platelets
https://www.readbyqxmd.com/read/27882376/plasma-levels-of-the-anti-coagulation-protein-c-and-the-risk-of-ischaemic-heart-disease-a-mendelian-randomisation-study
#2
C Mary Schooling, Yi Zhong
Protein C is an environmentally modifiable anticoagulant, which protects against venous thrombosis, whether it also protects against ischaemic heart disease is unclear, based on observational studies and relatively small genetic studies. It was our study aim to clarify the role of protein C in ischaemic heart disease the risk of coronary artery disease/myocardial infarction (CAD/MI) was assessed according to genetically predicted protein C in very large studies. Associations with lipids and diabetes were similarly assessed to rule out effects via traditional cardiovascular disease risk factors...
November 24, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27882227/g2691a-and-c2491t-mutations-of-factor-v-gene-and-pre-disposition-to-myocardial-infarction-in-morocco
#3
Wiam Hmimech, Brehima Diakite, Hind Hassani Idrissi, Khalil Hamzi, Farah Korchi, Dalila Baghdadi, Rachida Habbal, Sellama Nadifi
Coagulation factor Leiden mutation has been described as a common genetic risk factor for venous thrombosis; however, this mutation was reported to be practically absent in an African population. Recently, a novel non-sense mutation in the gene encoding factor V has been associated with the risk of occurrence of cardio-cerebrovascular diseases such as stroke and venous thrombosis. The aim of the present study was to investigate whether the factor V Leiden (FVL) and C2491T non-sense mutations are associated with the risk of developing myocardial infarction...
November 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27881526/towards-the-genetic-basis-of-cerebral-venous-thrombosis-the-beast-consortium-a-study-protocol
#4
Ioana Cotlarciuc, Thomas Marjot, Muhammad S Khan, Sini Hiltunen, Elena Haapaniemi, Tiina M Metso, Jukka Putaala, Susanna M Zuurbier, Matthijs C Brouwer, Serena M Passamonti, Paolo Bucciarelli, Emanuela Pappalardo, Tasmin Patel, Paolo Costa, Marina Colombi, Patrícia Canhão, Aleksander Tkach, Rosa Santacroce, Maurizio Margaglione, Giovanni Favuzzi, Elvira Grandone, Donatella Colaizzo, Kostas Spengos, Antonio Arauz, Amanda Hodge, Reina Ditta, Stephanie Debette, Marialuisa Zedde, Guillaume Pare, José M Ferro, Vincent Thijs, Alessandro Pezzini, Jennifer J Majersik, Ida Martinelli, Jonathan M Coutinho, Turgut Tatlisumak, Pankaj Sharma
INTRODUCTION: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. METHODS AND ANALYSIS: To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations...
November 22, 2016: BMJ Open
https://www.readbyqxmd.com/read/27878206/new-findings-on-venous-thrombogenesis
#5
James R Byrnes, Alisa S Wolberg
Venous thrombosis (VT) is the third most common cause of cardiovascular death worldwide. Complications from VT and pulmonary embolism are the leading cause of lost disability-adjusted life years. Risks include genetic (e.g., non-O blood group, activated protein C resistance, hyperprothrombinemia) and acquired (e.g., age, surgery, cancer, pregnancy, immobilisation, female hormone use) factors. Pathophysiologic mechanisms that promote VT are incompletely understood, but involve abnormalities in blood coagulability, vessel function, and flow (so-called Virchow's Triad)...
November 23, 2016: Hämostaseologie
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#6
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27820879/heparin-for-the-treatment-of-thrombosis-in-neonates
#7
REVIEW
Olga Romantsik, Matteo Bruschettini, Simona Zappettini, Luca Antonio Ramenghi, Maria Grazia Calevo
BACKGROUND: Among pediatric patients, newborns are at highest risk of developing thromboembolism. Neonatal thromboembolic (TE) events may consist of both venous and arterial thromboses and often iatrogenic complications (eg, central catheterization). Treatment guidelines for pediatric patients with TE events most often are extrapolated from the literature regarding adults. Options for the management of neonatal TE events include expectant management; nitroglycerin ointment; thrombolytic therapy or anticoagulant therapy, or a combination of the two; and surgery...
November 7, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27816347/cerebral-venous-thrombosis
#8
José Manuel Ferro, Patrícia Canhão, Diana Aguiar de Sousa
Cerebral venous thrombosis (CVT) has an incidence of 1.32/100,000/years in high-income countries, and higher in middle- and low-income countries. CVT is more frequent in infants and children young adults and females, especially during pregnancy/puerperium. CVT are now being diagnosed with increasing frequency because of the increased awareness and higher use of magnetic resonance imaging (MR) for investigating patients with acute and subacute headaches and new onset seizures. CVT rarely present as a stroke syndrome...
November 2, 2016: La Presse Médicale
https://www.readbyqxmd.com/read/27793415/a-sibling-based-design-to-quantify-genetic-and-shared-environmental-effects-of-venous-thromboembolism-in-sweden
#9
Bengt Zöller, Henrik Ohlsson, Jan Sundquist, Kristina Sundquist
INTRODUCTION: Few large studies have examined the heritability of venous thromboembolism (VTE). Moreover, twin studies have been suggested to overestimate heritability. The aim of the present study was to determine the heritability nationwide in the general Swedish population using full siblings and half-siblings. METHODS: VTE was defined using the Swedish patient register. Full sibling (FS) and half-sibling (HS) pairs born 1950-1990 were obtained from the Swedish Multi-generation Register...
October 20, 2016: Thrombosis Research
https://www.readbyqxmd.com/read/27785407/frequency-and-association-of-1691-g-a-fvl-20210-g-a-pt-and-677-c-t-mthfr-with-deep-vein-thrombosis-in-the-population-of-bosnia-and-herzegovina
#10
A Jusić-Karić, R Terzić, Z Jerkić, A Avdić, M Pođanin
The 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27776949/beh%C3%A3-et-s-disease%C3%A2-and-fmf-two-sides-of-the-same-coin-or-just-an-association-a-cross-sectional-study%C3%A2
#11
Abdulla Watad, Shmuel Tiosano, Dana Yahav, Doron Comaneshter, Yehuda Shoenfeld, Arnon D Cohen, Howard Amital
BACKGROUND: Familial Mediterranean fever (FMF) is a genetic disease, characterized by attacks of fever, arthritis, serositis and pain. Behçet's disease (BD) is an inflammatory disorder with a genetic basis, characterized by oral and genital ulcers, uveitis, pustular erythematous cutaneous lesions, arthritis, central nervous system involvement and possible vascular manifestations such as venous thrombosis, arteritis and aneurysms. OBJECTIVES: To investigate the association and actual differentiation between these two entities in a large-scale population-based study...
October 21, 2016: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/27766051/thrombophilia-in-east-asian-countries-are-there-any-genetic-differences-in-these-countries
#12
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
https://www.readbyqxmd.com/read/27766050/causes-of-venous-thrombosis
#13
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
https://www.readbyqxmd.com/read/27764878/environmental-and-genetic-risk-factors-associated-with-venous-thromboembolism
#14
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)...
November 2016: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/27729560/thrombophilic-gene-mutations-in-relation-to-different-manifestations-of-venous-thromboembolism-a-single-tertiary-center-study
#15
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
https://www.readbyqxmd.com/read/27685527/the-efficacy-of-tissue-factor-603a-g-and-5466a-g-polimorphisms-at-the-development-of-venous-thromboembolism-in-cancer-patients
#16
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
https://www.readbyqxmd.com/read/27683526/deficiencies-of-the-natural-anticoagulants-novel-clinical-laboratory-aspects-of-thrombophilia-testing
#17
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
https://www.readbyqxmd.com/read/27660039/recurrent-hemorrhagic-venous-infarctions-caused-by-thrombosis-of-a-pontine-developmental-venous-anomaly-and-protein-s-mutation
#18
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
https://www.readbyqxmd.com/read/27638626/genetic-risk-factors-in-venous-thromboembolism
#19
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
https://www.readbyqxmd.com/read/27513348/mitochondrial-genome-association-study-with-peripheral-arterial-disease-and-venous-thromboembolism
#20
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
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