1,938 results match your criteria Genetics of Venous Thromboembolism


A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.

Blood 2019 Jan 14. Epub 2019 Jan 14.

Department of Epidemiology, University of Washington, Seattle, WA, United States.

Factor VII (FVII) is an important component of the coagulation cascade. Few genetic loci regulating FVII activity and/or levels have been discovered to date. We conducted a meta-analysis of nine genome-wide association studies of plasma FVII levels (seven FVII activity and two FVII antigen) among 27,495 participants of European and African ancestry. Read More

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-05
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http://dx.doi.org/10.1182/blood-2018-05-849240DOI Listing
January 2019
10 Reads

Association between genetic polymorphisms of CYP2C9 and VKORC1 and safety and efficacy of warfarin: Results of a 5 years audit.

Indian Heart J 2018 Dec 1;70 Suppl 3:S13-S19. Epub 2018 Mar 1.

Department of Clinical Pharmacology, Seth G.S. Medical College & KEM Hospital, Acharya Donde Marg, Parel, Mumbai 400012, Maharashtra, India. Electronic address:

Objective: Genetic polymorphisms of CYP2C9 and VKORC1 play major role in pharmacokinetics and pharmacodynamics of warfarin, respectively. Purpose of our study was to assess the utility of pretesting patients for the above mutations in predicting tendency for bleeding and achieving target INR.

Methods: This was an audit of data collected between July 2011 and December 2016. Read More

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http://dx.doi.org/10.1016/j.ihj.2018.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309143PMC
December 2018
1 Read

Metabolites Associated With the Risk of Incident Venous Thromboembolism: A Metabolomic Analysis.

J Am Heart Assoc 2018 Nov;7(22):e010317

3 Channing Division of Network Medicine Department of Medicine Brigham and Women's Hospital and Harvard Medical School Boston MA.

Background Venous thromboembolism ( VTE ) is a complex thrombotic disorder that constitutes a major source of mortality and morbidity. To improve understanding of the cause of VTE , we conducted a metabolomic analysis in a case-control study including 240 incident VTE cases and 6963 controls nested within 3 large prospective population-based cohorts, the Nurses' Health Study, the Nurses' Health Study II , and the Health Professionals Follow-Up Study. Methods and Results For each individual, we measured 211 metabolites and collected detailed information on lifestyle factors. Read More

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http://dx.doi.org/10.1161/JAHA.118.010317DOI Listing
November 2018
1 Read

The current state of sickle cell trait: implications for reproductive and genetic counseling.

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):474-481

Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, MD.

Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245976PMC
November 2018
2 Reads

Pleiotropic Effects of Heparins: From Clinical Applications to Molecular Mechanisms in Hepatocellular Carcinoma.

Can J Gastroenterol Hepatol 2018 22;2018:7568742. Epub 2018 Oct 22.

Izmir Biomedicine and Genome Center, 35340, Turkey.

Hepatocellular carcinoma (HCC) is a major health problem worldwide and most cases are incurable because of late presentation. It is the most common primary neoplasm of the liver and often arises in the context of a chronic liver disease that impairs coagulation. Portal vein thrombosis (PVT) is a common complication of HCC that is associated with a poor prognosis. Read More

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https://www.hindawi.com/journals/cjgh/2018/7568742/
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http://dx.doi.org/10.1155/2018/7568742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217885PMC
October 2018
6 Reads

Clinical Outcomes Associated With Sickle Cell Trait: A Systematic Review.

Ann Intern Med 2018 Nov 30;169(9):619-627. Epub 2018 Oct 30.

Vascular Medicine Institute at the University of Pittsburgh, Pittsburgh, Pennsylvania (G.J.K.).

Background: Although sickle cell trait (SCT) is largely a benign carrier state, it may increase risk for certain clinical outcomes.

Purpose: To evaluate associations between SCT and clinical outcomes in children and adults.

Data Sources: English-language searches of PubMed, CINAHL, the Cochrane Library, Current Contents Connect, Scopus, and Embase (1 January 1970 to 30 June 2018) and bibliographies of review articles. Read More

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http://annals.org/article.aspx?doi=10.7326/M18-1161
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http://dx.doi.org/10.7326/M18-1161DOI Listing
November 2018
10 Reads

Adult height and risk of 50 diseases: a combined epidemiological and genetic analysis.

BMC Med 2018 10 25;16(1):187. Epub 2018 Oct 25.

Department of Cardiovascular Sciences, University of Leicester, Leicester, UK.

Background: Adult height is associated with risk of several diseases, but the breadth of such associations and whether these associations are primary or due to confounding are unclear. We examined the association of adult height with 50 diseases spanning multiple body systems using both epidemiological and genetic approaches, the latter to identify un-confounded associations and possible underlying mechanisms.

Methods: We examined the associations for adult height (using logistic regression adjusted for potential confounders) and genetically determined height (using a two-sample Mendelian randomisation approach with height-associated genetic variants as instrumental variables) in 417,434 individuals of white ethnic background participating in the UK Biobank. Read More

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http://dx.doi.org/10.1186/s12916-018-1175-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201543PMC
October 2018
1 Read

Early Identification of Protein S K196E Mutation in a Patient With Cerebral Venous Thrombosis: A Case Report.

J Stroke Cerebrovasc Dis 2019 Jan 21;28(1):232-233. Epub 2018 Oct 21.

Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan. Electronic address:

Background: Mutation of protein S K196E (PS K196E) is a genetic risk factor for venous thromboembolism; however, there are few reports on cerebral venous thrombosis (CVT) with this mutation. We report a case of CVT that was diagnosed as having PS K196E mutation at the initial thrombotic event.

Methods: A 54-year-old man suddenly developed generalized seizures after headache and nausea. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.09.040DOI Listing
January 2019
7 Reads

The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome.

Am J Mens Health 2018 Nov;12(6):2152-2156

1 Department of Medical Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa School of Medicine, İstanbul, Turkey.

Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet. Read More

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http://dx.doi.org/10.1177/1557988318801158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199429PMC
November 2018
9 Reads

Frequency of venous thrombotic events in patients with myelodysplastic syndrome and 5q deletion syndrome during lenalidomide therapy.

Ann Hematol 2019 Feb 18;98(2):331-337. Epub 2018 Oct 18.

Division of Hematology, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA.

Lenalidomide is known to increase the risk of venous thromboembolism in patients with hematologic malignancies. The role of antithrombotic prophylaxis in patients receiving lenalidomide is well established in multiple myeloma. However, when used in patients with a myelodysplastic syndrome (MDS)-in particular, del(5q) patients-the risk of venous thromboembolism and the need for anticoagulation are unknown. Read More

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http://link.springer.com/10.1007/s00277-018-3509-0
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http://dx.doi.org/10.1007/s00277-018-3509-0DOI Listing
February 2019
13 Reads

Sickle cell disease, sickle trait and the risk for venous thromboembolism: a systematic review and meta-analysis.

Thromb J 2018 4;16:27. Epub 2018 Oct 4.

Department of Epidemiology and Public Health, Centre Pasteur of Cameroon, Yaoundé, Cameroon.

Background: Globally, sickle cell disease (SCD) is one of the most common haemoglobinopathy. Considered a public health problem, it leads to vessel occlusion, blood stasis and chronic activation of the coagulation system responsible for vaso-occlussive crises and venous thromboembolism (VTE) which may be fatal. Although contemporary observational studies suggest a relationship between SCD or sickle trait (SCT) and VTE, there is lack of a summary or meta-analysis data on this possible correlation. Read More

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https://thrombosisjournal.biomedcentral.com/articles/10.1186
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http://dx.doi.org/10.1186/s12959-018-0179-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171302PMC
October 2018
14 Reads

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 12 5;20(12):1489-1498. Epub 2018 Oct 5.

Knight Diagnostic Laboratories, Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.

Factor V Leiden and factor II c.*97G>A (formerly referred to as prothrombin 20210G>A) are the two most common genetic variants associated with venous thromboembolism (VTE). Testing for these variants is one of the most common referrals in clinical genetics laboratories. Read More

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http://www.nature.com/articles/s41436-018-0322-z
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http://dx.doi.org/10.1038/s41436-018-0322-zDOI Listing
December 2018
3 Reads

Venous Thromboembolism in Women Undergoing Assisted Reproductive Technologies: Data from the RIETE Registry.

Thromb Haemost 2018 Nov 8;118(11):1962-1968. Epub 2018 Oct 8.

Department of Internal Medicine, Hospital Universitario Germans Trias i Pujol de Badalona, Universidad Católica de Murcia, Barcelona, Spain.

Venous thromboembolism (VTE) during or after assisted reproductive technologies (ART) is predicted to rise due to the increased number of women undergoing this technique. We present data collected in the RIETE registry up to October 2016. Overall, 41 (0. Read More

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http://dx.doi.org/10.1055/s-0038-1673402DOI Listing
November 2018
10 Reads

Acquired and Genetic Thrombotic Risk Factors in the Athlete.

Semin Thromb Hemost 2018 Nov 4;44(8):723-733. Epub 2018 Oct 4.

School of Health Sciences, Sports Performance Optimisation Research Team, University of Tasmania, Tasmania, Australia.

While athletes are often considered the epitome of health due to their physique and lowered potential for metabolic and cardiovascular diseases, they may also be at risk for the onset and development of venous thromboembolism (VTE). In an attempt to achieve and remain competitive, athletes are frequently exposed to numerous athlete-specific risk factors, which may predispose them to VTE through the disruption of factors associated with Virchow's triad (i.e. Read More

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http://dx.doi.org/10.1055/s-0038-1673625DOI Listing
November 2018
12 Reads

Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse.

PLoS Genet 2018 09 6;14(9):e1007658. Epub 2018 Sep 6.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.

Although the Factor V Leiden (FVL) gene variant is the most prevalent genetic risk factor for venous thrombosis, only 10% of FVL carriers will experience such an event in their lifetime. To identify potential FVL modifier genes contributing to this incomplete penetrance, we took advantage of a perinatal synthetic lethal thrombosis phenotype in mice homozygous for FVL (F5L/L) and haploinsufficient for tissue factor pathway inhibitor (Tfpi+/-) to perform a sensitized dominant ENU mutagenesis screen. Linkage analysis conducted in the 3 largest pedigrees generated from the surviving F5L/L Tfpi+/- mice ('rescues') using ENU-induced coding variants as genetic markers was unsuccessful in identifying major suppressor loci. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143275PMC
September 2018
3 Reads

Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.

J Thromb Haemost 2018 Dec 16;16(12):2432-2441. Epub 2018 Oct 16.

Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.

Essentials Deep vein thrombosis (DVT) has a large unknown genetic component. We sequenced coding areas of 734 hemostasis-related genes in 899 DVT patients and 599 controls. Variants in F5, FGA-FGG, CYP4V2-KLKB1-F11, and ABO were associated with DVT risk. Read More

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http://dx.doi.org/10.1111/jth.14279DOI Listing
December 2018
9 Reads

Frequency of vitamin K oxidoreductase complex subunit-1 (VKORC1) polymorphisms and warfarin dose management in patients with venous thromboembolism.

Pharmacogenomics J 2018 09 10;18(5):646-651. Epub 2018 Aug 10.

Department of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey.

Warfarin works by inhibiting VKORC1, so polymorphisms of this gene modify the required drug dose. The aim of this study is to examine the relation between therapeutic weekly dose of warfarin and C1173T/G1639A polymorphism of VKORC1 in patients with VTE. Seventy-five patients with VTE were enrolled. Read More

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http://dx.doi.org/10.1038/s41397-018-0037-1DOI Listing
September 2018
15 Reads

Implications of Janus Kinase 2 Mutation in Embolic Stroke of Unknown Source.

J Stroke Cerebrovasc Dis 2018 Oct 26;27(10):2572-2578. Epub 2018 Jul 26.

Department of Neurology and Rehabilitation, University of Illinois at Chicago College of Medicine, Chicago, Illinois.

The role of genetic mutations in cerebral ischemia is not completely understood. Among these genetic variations, Philadelphia-negative gain-of-function mutation in the janus kinase 2 (JAK2) protein leads to overexpression of the genes involved in cell growth and proliferation, and has been linked to development of hematological malignancies, specifically, myeloproliferative neoplasms (MPNs; essential thrombocythemia [ET], polycythemia vera [PV], and primary myelofibrosis). Overt ET and PV are known to induce a prothrombotic state that leads to development of vascular complications, including cerebral arterial or venous thrombosis. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.05.052DOI Listing
October 2018
2 Reads

Hypercoagulable states in arterial and venous thrombosis: When, how, and who to test?

Vasc Med 2018 08;23(4):388-399

2 Cardiology Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Evaluation for underlying hypercoagulable states in patients with thrombosis is a frequent clinical conundrum. Testing for thrombophilias is often reflexively performed without strategic approach nor clear appreciation of the clinical implications of such results. Guidelines vary in the appropriate utilization of thrombophilia testing. Read More

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http://dx.doi.org/10.1177/1358863X18755927DOI Listing
August 2018
3 Reads

Venous thromboembolism risk associated with ABO, F11 and FGG loci.

Blood Coagul Fibrinolysis 2018 Sep;29(6):528-532

Department of Life Sciences, Research Centre for Anthropology and Health (CIAS), University of Coimbra.

: The current study aims to evaluate, for the first time in the Portuguese population, the association with venous thromboembolism (VTE) of five well known and replicated VTE-associated single nucleotide polymorphisms (SNPs) in genes ABO, F11 and FGG. A population sample of 96 cases of VTE, without strong or moderate inherited or noninherited predisposing factors, and 148 healthy controls were analyzed for variants in genes ABO (rs2519093; rs8176719), F11 (rs2036914; rs2289252) and FGG (rs2066865). SNPs were genotyped by real-time PCR with TaqMan probes or by PCR-restriction fragment length polymorphism. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000753DOI Listing
September 2018
28 Reads
1.380 Impact Factor

Do hospital doctors test for thrombophilia in patients with venous thromboembolism?

J Thromb Thrombolysis 2018 Aug;46(2):238-243

Department of Medicine, Service of Internal Medicine, Lausanne University Hospital, Rue du Bugnon 46, 1011, Lausanne, Switzerland.

The predictive value of factor V Leiden and the G20210A prothrombin mutation regarding recurrent venous thromboembolism (VTE) is limited and does not influence subsequent patient management. Systematic testing for such genetic thrombophilia should be avoided, but to which extent such testing is practiced in a Swiss Hospital is unknown. To examine the current practice of factor V Leiden and/or G20210A prothrombin mutation testing in a University Hospital, and to assess the clinical consequences of testing on patients. Read More

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http://dx.doi.org/10.1007/s11239-018-1702-6DOI Listing
August 2018
19 Reads

β-Antithrombin, subtype of antithrombin deficiency and the risk of venous thromboembolism in hereditary antithrombin deficiency: A family cohort study.

Thromb Res 2018 08 2;168:47-52. Epub 2018 Jun 2.

Department of Haematology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

Hereditary antithrombin deficiency is associated with a high incidence of venous thromboembolism (VTE), but VTE risk differs between families. Beta-antithrombin is reported to be the most active isoform of antithrombin in vivo. Whether β-antithrombin activity and subtypes in antithrombin deficiency have impact on VTE risk has not been investigated outside the proband setting. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.06.004DOI Listing
August 2018
12 Reads

Prevalence and in silico analysis of missense mutations in the PROS1 gene in the Swedish population: The SweGen dataset.

Authors:
Bengt Zöller

Thromb Res 2018 08 2;168:28-30. Epub 2018 Jun 2.

Center for Primary Health Care Research, Lund University and Region Skåne, Malmö, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2018.06.001DOI Listing
August 2018
3 Reads

Association of factor V activity with risk of venous thromboembolism and atherothrombotic cardiovascular events: A retrospective population-based cohort study.

Thromb Res 2018 08 31;168:14-19. Epub 2018 May 31.

Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Institute of Hematology, Lady Davis Carmel Medical Center, Haifa, Israel.

Introduction: Factor V (FV) deficiency is a rare inherited coagulation disorder associated with bleeding tendency. As a result, it has been postulated that decreased FV activity may confer protection against venous thromboembolism and atherothrombotic cardiovascular events.

Materials And Methods: Using the electronic database of the largest health care provider in Israel, we identified all adult individuals who were tested for FV activity between January 2004 and June 2017. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.05.030DOI Listing
August 2018
38 Reads

Association of Genetic Variability in Selected Genes in Patients With Deep Vein Thrombosis and Platelet Hyperaggregability.

Clin Appl Thromb Hemost 2018 Oct 4;24(7):1027-1032. Epub 2018 Jun 4.

1 Department of Haematology and Transfusion Medicine, National Center of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova, Martin, Slovakia.

The aim of this study was to evaluate the genetic variability of the selected single nucleotide polymorphisms (SNPs) and examine the association between these SNPs and risk for deep vein thrombosis (DVT) in patients with sticky platelet syndrome (SPS). We examined 84 patients with SPS and history of DVT and 101 healthy individuals. We were interested in 2 SNPs within platelet endothelial aggregation receptor 1 (PEAR1) gene (rs12041331 and rs12566888), 2 SNPs within mkurine retrovirus integration site 1 gene (rs7940646 and rs1874445), 1 SNP within Janus kinase 2 gene (rs2230722), 1 SNP within FCER1G gene (rs3557), 1 SNP within pro-platelet basic protein (rs442155), 4 SNPs within alpha2A adrenergic receptor 2A (ADRA2A; rs1800545, rs4311994, rs11195419, and rs553668), and 1 SNP within sonic hedgehog gene (rs2363910). Read More

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http://dx.doi.org/10.1177/1076029618779136DOI Listing
October 2018
1 Read

The first reported case of factor V Leiden mutation with agenesis of superior vena cava: A case report.

Medicine (Baltimore) 2018 Jun;97(22):e10511

Universidade Federal de Pernambuco, Recife, Brazil.

Rationale: Total absence of superior vena cava (ASVC) is a very rare anomaly, and the patient usually suffers from superior vena cava syndrome (SVCS) or conduction disturbances.

Patient Concerns: We report a 36-year-old white male, born and living in Brazil, without comorbidities presented to hematologist thrombotic episodes even under anticoagulant therapy. On his first hematologic appointment, he had no active complaints except by the fullness after meals, and his physical examination presented remarkable collateral circulation in the chest. Read More

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http://dx.doi.org/10.1097/MD.0000000000010511DOI Listing
June 2018
8 Reads

Genetic causes of resistance to vitamin K antagonists in Polish patients: a novel p.Ile123Met mutation in VKORC1 gene.

Blood Coagul Fibrinolysis 2018 Jul;29(5):429-434

Krakow Centre for Medical Research and Technologies.

: Mutations in the genes encoding vitamin K epoxide reductase complex subunit 1 (VKORC1) and cytochrome P450 2C9 (CYP2C9) largely contribute to the inter-individual variations in vitamin K antagonists (VKAs) dose requirements. Up to 50% of the dosage variability can be explained by genetic polymorphisms in these genes. We sought to identify the mutations responsible for VKA resistance in a series of Polish patients. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000737DOI Listing
July 2018
5 Reads

Risk of venous thromboembolism in association with factor V leiden in cancer patients - The EDITH case-control study.

PLoS One 2018 18;13(5):e0194973. Epub 2018 May 18.

Université de Brest, EA3878 (GETBO) IFR, Brest, France.

Background: Cancer and factor V Leiden mutation are both risk factors for venous thromboembolism (VTE). Cancer critically increases the thrombotic risk whereas Factor V Leiden is the most common pro-thrombotic mutation. The impact of the factor V Leiden on the risk of VTE in cancer patients remains uncertain. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194973PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959061PMC
August 2018
22 Reads

Association between oncogenic status and risk of venous thromboembolism in patients with non-small cell lung cancer.

Respir Res 2018 05 9;19(1):88. Epub 2018 May 9.

Department of Respiratory and Critical Care Medicine, Beijing Chao-Yang Hospital, Capital Medical University, Beijing Institute of Respiratory Medicine, Beijing, 100020, China.

Background: Preclinical data suggest that oncogene (EGFR and KRAS) events regulate tumor procoagulant activity. However, few studies have prospectively investigated the clinical relevance between the presence of EGFR or KRAS mutations and occurrence of venous thromboembolism(VTE) in patients with non-small cell lung cancer (NSCLC).

Methods: A total of 605 Chinese patients with newly diagnosed NSCLC were included and were followed for a maximum period of 4. Read More

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http://dx.doi.org/10.1186/s12931-018-0791-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944093PMC
May 2018
4 Reads

Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report.

Medicine (Baltimore) 2018 May;97(19):e0714

Department of Vascular Surgery, the Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou, China.

Rationale: Protein S (PS) deficiency that can be inherited or acquired is an independent risk factor for venous thromboembolism (VTE).

Patient Concerns: In this report, we present a case of recurrent pulmonary embolism (PE) and deep venous thrombosis (DVT) due to PS deficiency.

Diagnoses: A 32-year-old male patient with significant decrease in PS activity was detected by laboratory tests. Read More

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http://dx.doi.org/10.1097/MD.0000000000010714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959418PMC
May 2018
11 Reads

Single cell coagulomes as constituents of the oncogene-driven coagulant phenotype in brain tumours.

Thromb Res 2018 04;164 Suppl 1:S136-S142

McGill University, Montreal Children's Hospital, RI MUHC, Montreal, Quebec, Canada. Electronic address:

Molecular profiling of human cancers revealed a startling diversity in disease-causing mechanisms superseding histological and anatomical commonalities. The emerging molecular subtypes and disease entities are often driven by distinct oncogenic pathways and their effectors, including those acting extracellularly on the vascular and coagulation systems. Indeed, several oncogenic mutations such as those affecting protein-coding genes (RAS, EGFR, PTEN, TP53) and non-coding RNA (microRNA) regulate multiple effectors of the coagulation system (coagulome), including tissue factor, protease activated receptors, clotting factors, mediators of platelet function and fibrinolysis. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.01.021DOI Listing
April 2018
2 Reads

Polymorphisms in PARK2 and MRPL37 are associated with higher risk of recurrent venous thromboembolism in a sex-specific manner.

J Thromb Thrombolysis 2018 Aug;46(2):154-165

Center for Primary Health Care Research, Department of Clinical Sciences, Lund University/Skåne University Hospital, Wallenberg Laboratory, 6th floor, Inga Marie Nilssons gata 53, 205 02, Malmö, Sweden.

Recent studies indicate that mitochondrial DNA (mtDNA) dysfunction is a biomarker of oxidative stress and can predict the risk of cardiovascular diseases (CVDs). Genetic variants in PARK2 (rs4708928) and MRPL37 (rs10888838) genes have been shown to be associated with altered levels of mtDNA in a sex-specific manner. However, the role of these genetic variants in risk assessment of recurrent venous thromboembolism (VTE) is unknown. Read More

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http://dx.doi.org/10.1007/s11239-018-1662-xDOI Listing
August 2018
7 Reads

Predictive Value of Oxidized Low-Density Lipoprotein/β-Glycoprotein-I Complexes (oxLDL/βGPI) in Nonautoimmune Atherothrombosis.

Clin Appl Thromb Hemost 2018 Oct 18;24(7):1050-1055. Epub 2018 Apr 18.

2 Department of Clinical and Experimental Medicine, Medical Genetics, University of Foggia, Foggia, Italy.

Introduction: Lipid oxidation is a definite feature of atherosclerosis, and oxidized low-density lipoprotein (oxLDL) is not only highly immunogenic but toxic to several cell types. Beta-2-glycoprotein-I (βGPI) dampens oxLDL toxicity by forming binary oxLDL/βGPI complexes. We evaluated whether circulating oxLDL/βGPI complexes are associated to atherosclerosis-related events (ARE) and to venous thromboembolism (VTE). Read More

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http://dx.doi.org/10.1177/1076029618767752DOI Listing
October 2018
3 Reads

Identification of biomarkers of venous thromboembolism by bioinformatics analyses.

Medicine (Baltimore) 2018 Apr;97(14):e0152

Department of Surgery, The First Hospital of Shanxi Medical University, Taiyuan, PR, China.

Venous thromboembolism (VTE) is a common vascular disease and a major cause of mortality. This study intended to explore the biomarkers associated with VTE by bioinformatics analyses.Based on Gene Expression Omnibus (GEO) database, the GSE19151 expression profile data were downloaded. Read More

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http://dx.doi.org/10.1097/MD.0000000000010152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902267PMC
April 2018
3 Reads

The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis.

BMC Med Genet 2018 03 27;19(1):50. Epub 2018 Mar 27.

Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, No.197 Ruijin Second Road, Shanghai, 200025, China.

Background: The contribution of moderate coagulation factor XII (FXII) deficiency to development of thromboembolism is still undetermined. We have tried to show the relevance of FXII deficiency to incidences of venous thrombosis by exploring the prevalence of F12 gene mutations in Chinese patients with thrombotic disorders.

Methods: One hundred and six patients with venous thromboembolism (VTE) and 220 healthy controls were enrolled in study. Read More

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http://dx.doi.org/10.1186/s12881-018-0557-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870241PMC
March 2018
4 Reads

Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension.

BMJ Case Rep 2018 Mar 22;2018. Epub 2018 Mar 22.

Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22462
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http://dx.doi.org/10.1136/bcr-2018-224621DOI Listing
March 2018
9 Reads

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Authors:
Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Pastinen Arno Ruusalepp Eric E Schadt Simon Koplev Johan L M Björkegren Veronica Codoni Mete Civelek Nicholas L Smith David A Trégouët Ingrid E Christophersen Carolina Roselli Steven A Lubitz Patrick T Ellinor E Shyong Tai Jaspal S Kooner Norihiro Kato Jiang He Pim van der Harst Paul Elliott John C Chambers Fumihiko Takeuchi Andrew D Johnson Dharambir K Sanghera Olle Melander Christina Jern Daniel Strbian Israel Fernandez-Cadenas W T Longstreth Arndt Rolfs Jun Hata Daniel Woo Jonathan Rosand Guillaume Pare Jemma C Hopewell Danish Saleheen Kari Stefansson Bradford B Worrall Steven J Kittner Sudha Seshadri Myriam Fornage Hugh S Markus Joanna M M Howson Yoichiro Kamatani Stephanie Debette Martin Dichgans Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Najaf Amin Hugo S Aparicio Donna K Arnett John Attia Alexa S Beiser Claudine Berr Julie E Buring Mariana Bustamante Valeria Caso Yu-Ching Cheng Seung Hoan Choi Ayesha Chowhan Natalia Cullell Jean-François Dartigues Hossein Delavaran Pilar Delgado Marcus Dörr Gunnar Engström Ian Ford Wander S Gurpreet Anders Hamsten Laura Heitsch Atsushi Hozawa Laura Ibanez Andreea Ilinca Martin Ingelsson Motoki Iwasaki Rebecca D Jackson Katarina Jood Pekka Jousilahti Sara Kaffashian Lalit Kalra Masahiro Kamouchi Takanari Kitazono Olafur Kjartansson Manja Kloss Peter J Koudstaal Jerzy Krupinski Daniel L Labovitz Cathy C Laurie Christopher R Levi Linxin Li Lars Lind Cecilia M Lindgren Vasileios Lioutas Yong Mei Liu Oscar L Lopez Hirata Makoto Nicolas Martinez-Majander Koichi Matsuda Naoko Minegishi Joan Montaner Andrew P Morris Elena Muiño Martina Müller-Nurasyid Bo Norrving Soichi Ogishima Eugenio A Parati Leema Reddy Peddareddygari Nancy L Pedersen Joanna Pera Markus Perola Alessandro Pezzini Silvana Pileggi Raquel Rabionet Iolanda Riba-Llena Marta Ribasés Jose R Romero Jaume Roquer Anthony G Rudd Antti-Pekka Sarin Ralhan Sarju Chloe Sarnowski Makoto Sasaki Claudia L Satizabal Mamoru Satoh Naveed Sattar Norie Sawada Gerli Sibolt Ásgeir Sigurdsson Albert Smith Kenji Sobue Carolina Soriano-Tárraga Tara Stanne O Colin Stine David J Stott Konstantin Strauch Takako Takai Hideo Tanaka Kozo Tanno Alexander Teumer Liisa Tomppo Nuria P Torres-Aguila Emmanuel Touze Shoichiro Tsugane Andre G Uitterlinden Einar M Valdimarsson Sven J van der Lee Henry Völzke Kenji Wakai David Weir Stephen R Williams Charles D A Wolfe Quenna Wong Huichun Xu Taiki Yamaji Dharambir K Sanghera Olle Melander Christina Jern Daniel Strbian Israel Fernandez-Cadenas W T Longstreth Arndt Rolfs Jun Hata Daniel Woo Jonathan Rosand Guillaume Pare Jemma C Hopewell Danish Saleheen Kari Stefansson Bradford B Worrall Steven J Kittner Sudha Seshadri Myriam Fornage Hugh S Markus Joanna M M Howson Yoichiro Kamatani Stephanie Debette Martin Dichgans

Nat Genet 2018 Apr 12;50(4):524-537. Epub 2018 Mar 12.

Institute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Munich, Germany.

Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32. We further found shared genetic variation with related vascular traits, including blood pressure, cardiac traits, and venous thromboembolism, at individual loci (n = 18), and using genetic risk scores and linkage-disequilibrium-score regression. Read More

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http://dx.doi.org/10.1038/s41588-018-0058-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5968830PMC
April 2018
198 Reads
7 Citations
29.350 Impact Factor

Interaction of a genetic risk score with physical activity, physical inactivity, and body mass index in relation to venous thromboembolism risk.

Genet Epidemiol 2018 06 8;42(4):354-365. Epub 2018 Mar 8.

Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Introduction: Venous thromboembolism (VTE) is highly heritable. Physical activity, physical inactivity and body mass index (BMI) are also risk factors, but evidence of interaction between genetic and environmental risk factors is limited.

Methods: Data on 2,134 VTE cases and 3,890 matched controls were obtained from the Nurses' Health Study (NHS), Nurses' Health Study II (NHS II), and Health Professionals Follow-up Study (HPFS). Read More

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http://dx.doi.org/10.1002/gepi.22118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980715PMC
June 2018
9 Reads

Anti-phospholipid syndrome in seven leprosy patients with thrombotic events on corticosteroid and/or thalidomide regimen: insights on genetic and laboratory profiles.

Rev Soc Bras Med Trop 2018 Jan-Feb;51(1):99-104

Divisão de Dermatologia, Departamento de Clínica Médica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.

Introduction: Corticosteroids and/or thalidomides have been associated with thromboembolism events (TBE) in multibacillary (MB) leprosy. This report aimed to determine genetic and laboratory profiles associated with leprosy and TBE.

Methods: Antiphospholipid antibodies (aPL), coagulation-related exams, prothrombin and Leiden's factor V mutations, and ß2-glycoprotein-I (ß2GPI) Val247Leu polymorphism were assessed. Read More

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http://dx.doi.org/10.1590/0037-8682-0216-2017DOI Listing
April 2018
10 Reads

High prevalence of factor V Leiden and prothrombin G20101A mutations in Kashmiri patients with venous thromboembolism.

Gene 2018 May 14;654:1-9. Epub 2018 Feb 14.

Department of Neurology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, J&K PIN: 190011, India.

Aim: The genetic variants of the factor V (G1691A), prothrombin (G20210A) and MTHFR (C677T) genes have been widely implicated as inherited risk factors for developing venous thrombosis. This study was undertaken to reveal the frequency of these mutations in Kashmiri patients with venous thromboembolism.

Methodology: A case-control study was designed with 250 VTE patients and 250 healthy controls. Read More

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http://dx.doi.org/10.1016/j.gene.2018.02.031DOI Listing
May 2018
17 Reads

Bleeding predictors in patients following venous thromboembolism treated with vitamin K antagonists: Association with increased number of single nucleotide polymorphisms.

Vascul Pharmacol 2018 07 9;106:22-27. Epub 2018 Feb 9.

Institute of Cardiology, Jagiellonian University School of Medicine, Cracow, Poland; John Paul II Hospital, Cracow, Poland. Electronic address:

Introduction: Single nucleotide polymorphisms (SNP) in genes encoding proteins involved in metabolism and action of vitamin K antagonists (VKA) affect anticoagulation stability. We investigated how those polymorphisms influence bleeding rates in patients following venous thromboembolism (VTE).

Materials And Methods: In 324 patients following unprovoked VTE, 143 (44%) on warfarin and 181 (56%) on acenocoumarol, we recorded bleeds within the preceding 24 months. Read More

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http://dx.doi.org/10.1016/j.vph.2018.02.002DOI Listing
July 2018
17 Reads

Venous Thromboembolism During Treatment with Antipsychotics: A Review of Current Evidence.

CNS Drugs 2018 01;32(1):47-64

Futurum, Region Jönköping County, Department of Medical and Health Sciences, Linköping University, Sweden.

This article summarises the current evidence on the risk of venous thromboembolism (VTE) with the use of antipsychotics. An increasing number of observational studies indicate an elevated risk of VTE in antipsychotic drug users. Although the use of certain antipsychotics has been associated with VTE, current data can neither conclusively verify differences in occurrence rates of VTE between first- and second-generation antipsychotics or between individual compounds, nor identify which antipsychotic drugs have the lowest risk of VTE. Read More

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http://dx.doi.org/10.1007/s40263-018-0495-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843694PMC
January 2018
4 Reads

Anticoagulant Protein S Targets the Factor IXa Heparin-Binding Exosite to Prevent Thrombosis.

Arterioscler Thromb Vasc Biol 2018 04 1;38(4):816-828. Epub 2018 Feb 1.

From the Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center, New Orleans (W.E.P., V.S.S.P., R.C., R.M.); Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill (B.C.C., T.G., D.P., W.B.); and Department of Medicine/Hematology-Oncology, University of Wisconsin School of Medicine and Public Health, Madison (P.R.W., J.P.S.).

Objective: PS (protein S) is a plasma protein that directly inhibits the coagulation FIXa (factor IXa) in vitro. Because elevated FIXa is associated with increased risk of venous thromboembolism, it is important to establish how PS inhibits FIXa function in vivo. The goal of this study is to confirm direct binding of PS with FIXa in vivo, identify FIXa amino acid residues required for binding PS in vivo, and use an enzymatically active FIXa mutant that is unable to bind PS to measure the significance of PS-FIXa interaction in hemostasis. Read More

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http://dx.doi.org/10.1161/ATVBAHA.117.310588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982114PMC
April 2018
9 Reads

Thrombosis in Philadelphia negative classical myeloproliferative neoplasms: a narrative review on epidemiology, risk assessment, and pathophysiologic mechanisms.

J Thromb Thrombolysis 2018 May;45(4):516-528

Texas Tech. University Health Sciences Center, 3601 4th St Stop 9410, Lubbock, TX, 79430-9410, USA.

Thrombosis is common in cancer patients and is associated with increased morbidity and mortality. Myeloproliferative neoplasms (MPN) are common malignancies in elderly individuals and are known for a high incidence of thrombotic complications. Different risk factors have been identified in studies, and risk models have been developed to identify patients with MPN at higher risk for thrombosis. Read More

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http://dx.doi.org/10.1007/s11239-018-1623-4DOI Listing
May 2018
4 Reads
1 Citation
2.040 Impact Factor

Thrombosis in cancer patients: etiology, incidence, and management.

Cardiovasc Diagn Ther 2017 Dec;7(Suppl 3):S178-S185

Division of Interventional Radiology, Mayo Clinic, Scottsdale, AZ, USA.

Venous thromboembolism (VTE) is the second most common cause of mortality in cancer patients. The mechanisms of cancer-associated thrombosis (CAT), much like cancer itself, are multi-factorial and incompletely understood. Cancer type, stage, tumor-derived factors and genetics all affect CAT risk. Read More

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http://dx.doi.org/10.21037/cdt.2017.11.02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778519PMC
December 2017
9 Reads

A case of hereditary thrombophilia in a Chinese Han patient with both antithrombin deficiency and Factor V Leiden: A case report and literature review.

Neuro Endocrinol Lett 2017 Dec;38(7):479-483

Department of Neurology, Neuroscience Centre, the First Teaching Hospital of Jilin University, No 71 Xinmin Street, Changchun, Jilin, 130021, China.

Hereditary thrombophilia is a blood coagulation disorder that increases the risk of venous thromboembolism, due to several genetic risk factors. Factor V Leiden(FVL) is the most common contributing factor to thrombophilia in the Caucasian population but very rare in Asian population and concurrent occurrence of antithrombin(AT) deficiency and FVL in Chinese Han population is even more rare. We report the case of a 22-year-old female who experienced recurrent intracranial venous thromboses, furthermore, color Doppler ultrasound showed multiple extracranial thromboses. Read More

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December 2017
35 Reads

Screening and functional exploration of prothrombin Arg596 related mutations in Chinese venous thromboembolism patients.

J Clin Pathol 2018 Jul 13;71(7):614-619. Epub 2018 Jan 13.

Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Aims: Dysfunctional prothrombin residue Arg596 associated mutation has been found to precipitate venous thromboembolism (VTE). In the current study we investigated the prevalence of Arg596 associated mutations in Chinese patients with VTE and explored the functional impact of Arg596Gln mutation on coagulation function in affected patients.

Methods: Prothrombin clotting activity was measured in 267 unrelated patients with unprovoked VTE. Read More

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http://dx.doi.org/10.1136/jclinpath-2017-204888DOI Listing
July 2018
11 Reads

Fat mass and obesity-associated gene rs9939609 polymorphism is a potential biomarker of recurrent venous thromboembolism in male but not in female patients.

Gene 2018 Mar 9;647:136-142. Epub 2018 Jan 9.

Center for Primary Health Care Research, Department of Clinical Sciences, Lund University/Skåne University Hospital, Malmö, Sweden; Department of Family Medicine and Community Health, Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, USA; Center for Community-based Healthcare Research and Education (CoHRE), Department of Functional Pathology, School of Medicine, Shimane University, Japan.

Multiple genetic variations have been identified in FTO (fat mass and obesity-associated) gene. Among them, FTO rs9939609 polymorphism is shown to be associated with the risk of primary venous thromboembolism (VTE). However, its role in recurrent VTE is not known. Read More

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http://dx.doi.org/10.1016/j.gene.2018.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5801109PMC
March 2018
9 Reads

Impaired plasminogen binding in patients with venous thromboembolism: Association with protein carbonylation.

Thromb Res 2018 03 5;163:12-18. Epub 2018 Jan 5.

Krakow Centre for Medical Research and Technologies, John Paul II Hospital, Krakow, Poland; Institute of Cardiology, Jagiellonian University Medical College, Krakow, Poland. Electronic address:

Introduction: Venous thromboembolism (VTE) is associated with hypofibrinolysis. Its mechanisms are poorly understood. We investigated plasminogen-fibrin interaction and its association with fibrinolytic capacity and protein oxidation/carbonylation in VTE patients. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.01.004DOI Listing
March 2018
9 Reads

Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review.

J Genet 2017 Dec;96(6):1047-1051

The John Paul II Hospital, 31-202 Kraków, Poland.

Protein S (PS) is a vitaminK-dependent glycoproteinwhich plays an important role in the regulation of blood coagulation. PS deficiency has been found in 1.5-7% of thrombophilic patients. Read More

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December 2017
6 Reads