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venous thrombosis genetics

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https://www.readbyqxmd.com/read/28420787/activation-of-nlrp3-inflammasome-complex-potentiates-venous-thrombosis-in-response-to-hypoxia
#1
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...
April 18, 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
#2
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...
April 13, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28357186/lesch-nyhan-syndrome-the-saga-of-metabolic-abnormalities-and-self-injurious-behavior
#3
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
#4
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
https://www.readbyqxmd.com/read/28344968/pulmonary-embolism-in-a-healthy-woman-using-the-oral-contraceptives-containing-desogestrel
#5
Min-Jeong Park, Gyun-Ho Jeon
Venous thromboembolism is well known as one of the rare but serious adverse effects of combined oral contraceptives (COCs). The COCs with third and fourth generation progestogens were found to have higher risk of venous thrombosis than those with second generation progestogens. We present a case of pulmonary embolism in a 23-year-old nulligravid woman who was using COCs containing the third generation progestogen (desogestrel). At the time of presentation of the adverse effect, she had been using the COCs for 4 months...
March 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28320710/myeloid-p53-regulates-macrophage-polarization-and-venous-thrombus-resolution-by-inflammatory-vascular-remodeling-in-mice
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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...
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28049360/identification-of-genetic-aberrations-in-thrombomodulin-gene-in-patients-with-recurrent-venous-thromboembolism
#16
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
#17
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
#18
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
#19
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
#20
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
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