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venous thrombosis genetics

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https://www.readbyqxmd.com/read/28320710/myeloid-p53-regulates-macrophage-polarization-and-venous-thrombus-resolution-by-inflammatory-vascular-remodeling-in-mice
#1
Subhradip Mukhopadhyay, Toni M Antalis, Khanh P Nguyen, Mark H Hoofnagle, Rajabrata Sarkar
Deep venous thrombosis (DVT) remains a common and serious cardiovascular problem with both fatal and long-term consequences. The consequences of DVT include the development of post-thrombotic syndrome (PTS) in 25-60% of DVT patients. Despite the clinical importance of venous thrombus resolution, the cellular and molecular mediators involved are poorly understood, and currently there is no molecular therapy to accelerate this process. Several lines of evidence suggest that a complex and interrelated array of molecular signaling processes are involved in the inflammatory vascular remodeling associated with the resolution of DVT...
March 20, 2017: Blood
https://www.readbyqxmd.com/read/28303970/transient-desialylation-in-combination-with-a-novel-antithrombin-deficiency-causing-a-severe-and-recurrent-thrombosis-despite-anticoagulation-therapy
#2
Nuria Revilla, María Eugenia de la Morena-Barrio, Antonia Miñano, Raquel López-Gálvez, Mara Toderici, José Padilla, Ángel García-Avello, María Luisa Lozano, Dirk J Lefeber, Javier Corral, Vicente Vicente
An in-depth focused study of specific cases of patients with recurrent thrombosis may help to identify novel circumstances, genetic and acquired factors contributing to the development of this disorder. The aim of this study was to carry out a detailed and sequential analysis of samples from a patient suffering from early and recurrent venous and arterial thrombosis. We performed thrombophilic tests, biochemical, functional, genetic and glycomic analysis of antithrombin and other plasma proteins. The patient carried a new type I antithrombin mutation (p...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28300866/thrombotic-risk-according-to-serpinc1-genotype-in-a-large-cohort-of-subjects-with-antithrombin-inherited-deficiency
#3
Martine Alhenc-Gelas, Genevieve Plu-Bureau, Justine Hugon-Rodin, Véronique Picard, Marie-Helene Horellou
Inherited quantitative (type I) or qualitative (type II) antithrombin deficiency (ATD) due to mutations in the SERPINC1 gene is a well-known risk factor for venous thromboembolism. ATD may also increase risk for arterial thrombosis. Few studies have investigated risk for thrombosis according to mutations. We addressed this topic in a large retrospective cohort study of 540 heterozygous carriers of SERPINC1 mutations and compared risk for first venous or arterial thrombosis associated with carrying of different type II or type I mutations...
March 16, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28262245/genetic-factors-in-pediatric-venous-thromboembolism
#4
Frank Rühle, Monika Stoll
Venous thromboembolism (VTE) is the predominant form of thrombosis in children and exhibits a strong genetic background as observed by familial aggregation. While data from diverse genome wide association studies (GWAS) and meta-analyses based on large study samples exist for adult patients, most reports on VTE in children rely on candidate gene studies based on small family collectives. However, results from adult patients cannot be directly transferred to children due to differences in their coagulation system and applicable environmental factors...
March 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28252168/interactions-among-methylenetetrahydrofolate-reductase-mthfr-and-cystathionine-%C3%AE-synthase-cbs-polymorphisms-a-cross-sectional-study-multiple-heterozygosis-as-a-risk-factor-for-higher-homocysteine-levels-and-vaso-occlusive-episodes
#5
F M Amaral, A L Miranda-Vilela, G S Lordelo, I F Ribeiro, M B Daldegan, C K Grisolia
High plasma homocysteine (Hcy) ​​levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-β-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a possible association between these polymorphisms and the clinical variability. Blood samples of Brazilian patients with a diagnosis of thrombosis were submitted to genotyping by PCR-based methods and serum dosages of folic acid, vitamin B12 and Hcy...
February 23, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28208204/thrombophilic-evaluation-in-patients-with-acute-pulmonary-embolism
#6
Scott M Stevens, Jack E Ansell
Patients with acute pulmonary embolism (PE) are often tested for thrombophilias, which are hereditary and acquired conditions that predispose to thrombosis. If a hereditary condition is identified, then testing is often performed on members of the patient's family. Testing for these conditions can be complex, as the presence of acute thrombosis and antithrombotic therapies can make the results of many tests unreliable. Many risk factors for thrombosis exist that are not routinely assessed by laboratory testing, and it is likely that many hereditary thrombophilia conditions remain to be discovered...
February 2017: Seminars in Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28186446/de-novo-avm-formation-following-venous-sinus-thrombosis-and-prior-avm-resection-in-adults-report-of-2-cases
#7
Siyu Shi, Raghav Gupta, Justin M Moore, Christoph J Griessenauer, Nimer Adeeb, Rouzbeh Motiei-Langroudi, Ajith J Thomas, Christopher S Ogilvy
Brain arteriovenous malformations (AVMs) are traditionally considered congenital lesions, arising from aberrant vascular development during the intrauterine period. Rarely, however, AVMs develop in the postnatal period. Individual case reports of de novo AVM formation in both pediatric and adult patients have challenged the traditional dogma of a congenital origin. Instead, for these cases, a dynamic picture is emerging of AVM growth and development, initially triggered by ischemic and/or traumatic events, coupled with genetic predispositions...
February 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28102512/anti-phospholipid-syndrome-associated-with-schizophrenia-description-of-five-patients-and-review-of-the-literature
#8
Pikman Regina, Rotman Pnina, Aiman Natur, Levy Yair
Anti-phospholipid syndrome is an autoimmune disorder characterized by anti-phospholipid antibodies, arterial and venous thrombosis, pregnancy morbidity, and various neurological manifestations including psychiatric disorders. Higher incidence of various autoimmune disorders was found in schizophrenia. In addition, an association between the presence of anti-phospholipid antibodies and schizophrenia or psychosis was previously described, mainly as case reports. Although initially believed to be a result of neuroleptic treatment, the reasons for this association remain obscure...
January 19, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28063245/dosing-algorithms-for-vitamin-k-antagonists-across-vkorc1-and-cyp2c9-genotypes
#9
E V Baranova, T I Verhoef, G Ragia, S le Cessie, F W Asselbergs, A de Boer, V G Manolopoulos, A H Maitland-van der Zee
Essentials Prospective studies of pharmacogenetic-guided (PG) coumarin dosing produced varying results. EU-PACT acenocoumarol and phenprocoumon trials compared PG and non-PG dosing algorithms. Sub-analysis of EU-PACT identified differences between trial arms across VKORC1-CYP2C9 groups. Adjustment of the PG algorithm might lead to a higher benefit of genotyping. SUMMARY: Background The multicenter, single-blind, randomized EU-PACT trial compared the safety and efficacy of genotype-guided and non-genetic dosing algorithms for acenocoumarol and phenprocoumon in patients with atrial fibrillation or deep vein thrombosis...
January 7, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28053049/genome-wide-association-study-with-additional-genetic-and-post-transcriptional-analyses-reveals-novel-regulators-of-plasma-factor-xi-levels
#10
Bengt Sennblad, Saonli Basu, Johanna Mazur, Pierre Suchon, Angel Martinez-Perez, Astrid van Hylckama Vlieg, Vinh Truong, Yuhuang Li, Jesper R Gådin, Weihong Tang, Vera Grossman, Hugoline G de Haan, Niklas Handin, Angela Silveira, Juan Carlos Souto, Anders Franco-Cereceda, Pierre-Emmanuel Morange, France Gagnon, Jose Manuel Soria, Per Eriksson, Anders Hamsten, Lars Maegdefessel, Frits R Rosendaal, Philipp Wild, Aaron R Folsom, David-Alexandre Trégouët, Maria Sabater-Lleal
Coagulation factor XI (FXI) has become increasingly interesting for its role in pathogenesis of thrombosis. While elevated plasma levels of FXI have been associated with venous thromboembolism and ischemic stroke, its deficiency is associated with mild bleeding. We aimed to determine novel genetic and post-transcriptional plasma FXI regulators.We performed a genome-wide association study (GWAS) for plasma FXI levels, using novel data imputed to the 1000 Genomes reference panel. Individual GWAS analyses, including a total of 16,169 European individuals from the ARIC, GHS, MARTHA and PROCARDIS studies, were meta-analysed and further replicated in 2,045 individuals from the F5L family, GAIT2 and MEGA studies...
January 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28049360/identification-of-genetic-aberrations-in-thrombomodulin-gene-in-patients-with-recurrent-venous-thromboembolism
#11
Abrar Ahmad, Kristina Sundquist, Bengt Zöller, Peter J Svensson, Jan Sundquist, Ashfaque A Memon
Thrombomodulin (THBD) serves as a cofactor for thrombin-mediated activation of anticoagulant protein C pathway. Genetic aberrations in THBD have been studied in arterial and venous thrombosis. However, genetic changes in THBD and their role in the risk assessment of recurrent venous thromboembolism (VTE) are not well understood. The aim of the present study was to identify the genetic aberrations in THBD and their association with the risk of VTE recurrence in a prospective population-based study. We sequenced the entire THBD gene, first in selected patients with VTE (n = 95) by Sanger sequencing and later validated those polymorphisms with minor allele frequency (MAF) ≥5% in the whole study population (n = 1465 with the follow-up period of 1998-2008) by Taqman polymerase chain reaction...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28049358/thrombophilia-screening
#12
Giuseppe Colucci, Dimitrios A Tsakiris
The utility of thrombophilia testing in clinical practice is still a matter of debate because studies have not shown a benefit in the reduction of recurrent venous thromboembolism (VTE) risk in patients with thrombosis, despite the clearly higher VTE risk for first thrombosis. Screening for thrombophilia is indicated in selected patients. Particularly in selected young patients, especially women of childbearing age, the knowledge of the genetic thrombophilic defect may help in specific situations to decrease the risk of VTE events...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28028299/gene-expression-in-obstetric-antiphospholipid-syndrome-a-systematic-review
#13
M Muhammad Aliff, S Muhammad Shazwan, M M Nur Fariha, A R Hayati, A R Nur Syahrina, M Maizatul Azma, A H Nazefah, S Jameela, A A Asral Wirda
BACKGROUND: Antiphospholipid syndrome (APS) is a multisystem disease that may present as venous or arterial thrombosis and/or pregnancy complications with the presence of antiphospholipid antibodies. Until today, heterogeneity of pathogenic mechanism fits well with various clinical manifestations. Moreover, previous studies have indicated that genes are differentially expressed between normal and in the disease state. Hence, this study systematically searched the literature on human gene expression that was differentially expressed in Obstetric APS...
December 2016: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28028026/diagnosis-risk-stratification-and-response-evaluation-in-classical-myeloproliferative-neoplasms
#14
REVIEW
Elisa Rumi, Mario Cazzola
Philadelphia-negative classical myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The 2016 revision of the WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues includes new criteria for the diagnosis of these disorders. Somatic mutations in the 3 driver genes, that is, JAK2, CALR, and MPL, represent major diagnostic criteria in combination with hematologic and morphological abnormalities. PV is characterized by erythrocytosis with suppressed endogenous erythropoietin production, bone marrow panmyelosis, and JAK2 mutation...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/28027559/the-contribution-of-hereditary-thrombophilia-to-increasing-the-frequency-of-thrombosis-in-patients-with-ph-negative-myeloproliferative-neoplasms-including-the-victims-from-the-chornobyl-accident
#15
O Y Mishcheniuk, V M Shkarupa, O M Kostukevich, L V Neumerzhitcka, S M Kravchenko, S V Klymenko
OBJECTIVE: The definition of a contribution of the carriage of the G1691A allele of thecoagulation factor V gene and the G20210A allele of the coagulation factor II gene in the development of thrombosis in Ph negative myeloprolifer ative neoplasms (MPN) patients, who were irradiated in the dose range 0,001 0,99 Gy and who were not. MATERIALS AND METHODS: The clinical and molecular genetic characteristics of patients with radiation associated and spontaneous polycythemia vera (PV), essential trombotsytemiya (ET) and primary myelofibrosis (PMF) were ana lyzed...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/27994217/desmoid-fibromatosis-presenting-as-deep-venous-thrombosis-a-case-report-and-discussion
#16
Lisa M Marks, Susan J Neuhaus
BACKGROUND Venous thromboembolism (VTE), comprising deep vein thrombosis (DVT) and pulmonary embolism (PE), is a common, serious cardiovascular event. Predisposing factors include genetic disorders, immobility, and underlying malignancy. Soft tissue tumors are by contrast rare, but should be included in the differential etiology of DVT, especially when the patient is young and has few thrombotic risk factors. CASE REPORT We present a 40-year-old patient whose initial diagnosis was spontaneous DVT of the lower leg, treated conventionally...
December 20, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27980127/venous-thrombotic-recurrence-after-cerebral-venous-thrombosis-a-long-term-follow-up-study
#17
Paola Palazzo, Pierre Agius, Pierre Ingrand, Jonathan Ciron, Matthias Lamy, Aline Berthomet, Paul Cantagrel, Jean-Philippe Neau
BACKGROUND AND PURPOSE: After cerebral venous thrombosis (CVT), the risk of venous thrombotic events was estimated at 2% to 3% for a new CVT and 3% to 8% for extracranial events. However, because of the paucity of prospective studies, the clinical course of CVT is still largely unknown. We aimed to prospectively evaluate the rate of thrombosis recurrence in a cohort of CVT patients with a long-term follow-up and to detect predisposing factors for recurrence. METHODS: Consecutive CVT patients with complete clinical, radiological, biological, and genetic data were systematically followed up...
December 15, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27976637/thromboembolic-events-in-patients-with-inflammatory-bowel-disease
#18
Farjah H Algahtani, Youssef M K Farag, Abdulrahman M Aljebreen, Nahla A Alazzam, Aamer S Aleem, Fouad F Jabri, Mohammad H Rajab, Mohamed M Shoukri
BACKGROUND/AIMS: Inflammatory bowel disease (ulcerative colitis and Crohn's disease) is characterized by a chronic inflammatory condition, and is accompanied by abnormalities in coagulation and a hyper-coagulable state. This study was conducted to examine the risk factors for developing Thromboembolic Events in Inflammatory Bowel Disease (IBD) in a population with prevalent consanguinity. PATIENTS AND METHODS: Patients with a definitive diagnosis of IBD who were seen in the gastroenterology clinic of King Khalid University Hospital (Riyadh, Saudi Arabia) from 2010- to 2012, were asked to participate in this prospective cohort study, and were followed for one 1 year...
November 2016: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/27933413/investigation-on-genetic-thrombophilic-factors-in-ffpe-autopsy-tissue-from-subjects-who-died-from-pulmonary-embolism
#19
Francesco Brandimarti, Federica Alessandrini, Mauro Pesaresi, Chiara Catalani, Letizia De Angelis, Roberta Galeazzi, Simona Giovagnetti, Rosaria Gesuita, Elisa Righi, Raffaele Giorgetti, Adriano Tagliabracci
Venous thromboembolism (VTE) is a multifactorial disease determined by a combination of inherited and acquired factors. Inherited factors include mutations in the genes coding for coagulation factors, some of which seem to exert a differential influence on the risk of developing deep vein thrombosis (DVT) and pulmonary embolism (PE). In post-mortem studies of subjects who have died from pulmonary embolism (PE), the analysis of the factors that may have augmented the VTE risk is often limited to acquired factors...
March 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27897087/nuclear-imaging-of-thrombosis-in-small-animal
#20
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
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