2,079 results match your criteria Genetics of Venous Thromboembolism


The genetics of venous thromboembolism: a systematic review of thrombophilia families.

J Thromb Thrombolysis 2020 Jul 4. Epub 2020 Jul 4.

China-Japan Friendship Hospital, Capital Medical University, NO 2, East Yinghua Road, Chaoyang District, Beijing, 100029, China.

Genetic risk factors are important for the occurrence and prognosis of venous thromboembolism (VTE). The studies of thrombophilia families are important for dissecting the genetic background of the thrombotic disease. We conducted the systematic review of all published family-based studies on VTE genetics across all racial groups through PubMed and Embase prior to 13th April 2020. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11239-020-02203-7DOI Listing

Role of prothrombin 19911 A>G polymorphism, blood group and male gender in patients with venous thromboembolism: Results of a German cohort study.

J Thromb Thrombolysis 2020 Jun 27. Epub 2020 Jun 27.

UKSH, Institute of Clinical Chemistry, Hemostasis Unit, Arnold-Heller-Str. 3 Building 17, Kiel, 24105, Germany.

The role of the A>G polymorphism at position 19911 in the prothrombin gene (factor [F] 2 at rs3136516) as a risk factor for venous thromboembolism [VTE] is still unclear. To evaluate the presence of the F2 polymorphism in VTE patients compared to healthy blood donors and to adjust the results for common inherited thrombophilias [IT], age at onset and blood group [BG], and to calculate the risk of VTE recurrence. We investigated 1012 Caucasian patients with a diagnosis of VTE for the presence of the F2 rs3136516 polymorphism and compared these with 902 healthy blood donors. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11239-020-02169-6DOI Listing

Genetic risk factors for venous thromboembolism among infertile men with Klinefelter syndrome.

J Clin Transl Endocrinol 2020 Jun 19;20:100228. Epub 2020 May 19.

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.

Background: Klinefelter syndrome (KS) is one of the commonest sex chromosome disorders. Affected males become infertile and highly susceptible to several health problems, including vascular thromboembolism (VTE). The risk of VTE may be exacerbated by an underlying genetically inherited thrombophilia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcte.2020.100228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303976PMC

High molecular weight kininogen contributes to early mortality and kidney dysfunction in a mouse model of sickle cell disease.

J Thromb Haemost 2020 Jun 23. Epub 2020 Jun 23.

UNC Blood Research Center, Division of Hematology & Oncology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.

Background: Sickle cell disease (SCD) is characterized by chronic hemolytic anemia, vaso-occlusive crises, chronic inflammation, and activation of coagulation. The clinical complications such as painful crisis, stroke, pulmonary hypertension, nephropathy and venous thromboembolism lead to cumulative organ damage and premature death. High molecular weight kininogen (HK) is a central cofactor for the kallikrein-kinin and intrinsic coagulation pathways, which contributes to both coagulation and inflammation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jth.14972DOI Listing

Assessing Full Benefit of Rivaroxaban Prophylaxis in High-Risk Ambulatory Patients with Cancer: Thromboembolic Events in the Randomized CASSINI Trial.

TH Open 2020 Apr 23;4(2):e107-e112. Epub 2020 May 23.

Hematology Service, Memorial Sloan Kettering Cancer Center, New York, New York, United States.

 In the CASSINI study, rivaroxaban thromboprophylaxis significantly reduced primary venous thromboembolism (VTE) endpoints during the intervention period, but several thromboembolic events designated as secondary efficacy endpoints were not included in the primary analysis. This study was aimed to evaluate the full impact of rivaroxaban thromboprophylaxis on all prespecified thromboembolic endpoints occurring on study.  CASSINI was a double-blind, randomized, placebo-controlled study in adult ambulatory patients with cancer at risk for VTE (Khorana score ≥2). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0040-1712143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245534PMC

[Susceptibility genetics of common conditions in clinical practice].

Med Sci (Paris) 2020 May 26;36(5):515-520. Epub 2020 May 26.

CHU de Nantes - Service de Médecine Interne, 44000 Nantes, France.

The genetic tests for "non-rare thrombophilias" (TNR) were introduced into clinical setting immediately after the identification of genetic variants in the mid-90s to predict and prevent venous thromboembolism (VTE). Although being a rare example of a genetic test of susceptibility for complex diseases that has been integrated in medical routine, it is the most widespread post-natal genetics inquiry in France nowadays. Yet, determining whom to test and how to use the results is still controversial. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/2020083DOI Listing

Updated Perspectives on the Management of Multiple Myeloma in Older Patients: Focus on Lenalidomide.

Clin Interv Aging 2020 4;15:619-633. Epub 2020 May 4.

Department of Medicine, Washington University School of Medicine, St Louis, MO, USA.

Multiple myeloma is a hematologic malignancy that predominantly affects older adults, with a median age at diagnosis of 70 years old. A mainstay of multiple myeloma treatment is lenalidomide, which is an immunomodulatory drug (IMiD) that changed the treatment paradigm for multiple myeloma. This is particularly true for older adults who do not undergo autologous stem cell transplantation (ASCT). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/CIA.S196087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210019PMC

Genome-Wide Association Meta-Analysis of Single-Nucleotide Polymorphisms and Symptomatic Venous Thromboembolism during Therapy for Acute Lymphoblastic Leukemia and Lymphoma in Caucasian Children.

Cancers (Basel) 2020 May 19;12(5). Epub 2020 May 19.

Department of Pediatrics and Adolescent Medicine, University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.

Symptomatic venous thromboembolism (VTE) occurs in five percent of children treated for acute lymphoblastic leukemia (ALL), but whether a genetic predisposition exists across different ALL treatment regimens has not been well studied.

Methods: We undertook a genome-wide association study (GWAS) meta-analysis for VTE in consecutively treated children in the Nordic/Baltic acute lymphoblastic leukemia 2008 (ALL2008) cohort and the Australian Evaluation of Risk of ALL Treatment-Related Side-Effects (ERASE) cohort. A total of 92 cases and 1481 controls of European ancestry were included. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/cancers12051285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280960PMC

A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.

Clin Sci (Lond) 2020 05;134(10):1181-1190

INSERM UMR 1219, Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France.

Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation was detected by Sanger sequencing of PROS1 exons and their flanking intronic regions or via an multiplex ligation-dependent probe amplification (MLPA) approach, a whole genome sequencing strategy was adopted. This led to the identification of a never reported C to T substitution at c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/CS20200403DOI Listing

Genetic predisposition to smoking in relation to 14 cardiovascular diseases.

Eur Heart J 2020 Apr 16. Epub 2020 Apr 16.

Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

Aims: The aim of this study was to use Mendelian randomization (MR) to determine the causality of the association between smoking and 14 different cardiovascular diseases (CVDs).

Methods And Results: Our primary genetic instrument comprised 361 single-nucleotide polymorphisms (SNPs) associated with smoking initiation (ever smoked regularly) at genome-wide significance. Data on the associations between the SNPs and 14 CVDs were obtained from the UK Biobank study (N = 367 643 individuals), CARDIoGRAMplusC4D consortium (N = 184 305 individuals), Atrial Fibrillation Consortium (2017 dataset; N = 154 432 individuals), and Million Veteran Program (MVP; N = 190 266 individuals). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/eurheartj/ehaa193DOI Listing

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling.

BMC Med Genet 2020 04 6;21(1):73. Epub 2020 Apr 6.

Medical Genetics Laboratory, Petrovsky National Research Centre of Surgery, Abricosovsky lane, 2, Moscow, 119991, Russian Federation.

Background: Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000-3000) autosomal-dominant disorder with high risk of venous thromboembolism. Mutations in the serpin family C member 1 gene (SERPINC1) can lead to Quantitative (type I) and Qualitative (type II) types of antithrombin deficiency. We describe a new genetic variant in the SERPINC1 gene and our approach to variant interpretation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-020-01001-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137186PMC

Prevalence and Outcomes of Thrombophilia in Patients with Acute Pulmonary Embolism.

Vasc Health Risk Manag 2020 9;16:75-85. Epub 2020 Mar 9.

Department of Surgery, Hamad General Hospital (HGH), Doha, Qatar.

Background: We aimed to study the prevalence and outcomes of thrombophilia in acute pulmonary embolism.

Methods: A retrospective observational study was conducted to include patients with a radiologically confirmed diagnosis of PE screened for thrombophilia from May 2011 to February 2015. Data included patients' demographics; clinical presentation, risk factors, laboratory investigations, management, and outcome were analyzed and compared in patients with and without thrombophilia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/VHRM.S241649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082538PMC

Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC.

Thromb Res 2020 Apr 10;188:115-118. Epub 2020 Mar 10.

Department of Clinical Laboratory Science, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan; Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.thromres.2020.03.009DOI Listing

Circulating and tissue microRNAs as a potential diagnostic biomarker in patients with thrombotic events.

J Cell Physiol 2020 Mar 20. Epub 2020 Mar 20.

Department of Physiology, Metabolic Syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Venous and arterial thrombosis are conditions that have a considerable burden if left untreated. The hypoxia-induced by the occluded vessel can disrupt the circulation of any organ, the cornerstone of treating thrombosis is rapid diagnosis and appropriate treatment. Diagnosis of thrombosis may be made by using laboratory tests or imaging techniques in individuals who have clinical manifestations of a thrombotic event. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcp.29639DOI Listing

Genomic susceptibility in practice: The regulatory trajectory of non-rare thrombophilia (NRT) genetic tests in the clinical management of venous thrombo-embolism (VTE).

Soc Sci Med 2020 Mar 3:112903. Epub 2020 Mar 3.

University of Paris, CERMES3, INSERM, CNRS, EHESS, Villejuif, France.

The use of individual genomic risk factors to predict the onset of common diseases is one of the main promises of personalized medicine. This paper aims to contribute to the understanding of how genetic susceptibility shapes clinical practice, by drawing on non-rare thrombophilia (NRT) tests, a common diagnostic technique for congenital predisposition to venous thromboembolism (VTE). Adopting a diachronic approach, we describe the trajectory of NRT usage and its professional regulation since the discovery of NRT variants in the mid-90s. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.socscimed.2020.112903DOI Listing

Myocardial infarction, prothrombotic genotypes, and venous thrombosis risk: The Tromsø Study.

Res Pract Thromb Haemost 2020 Feb 27;4(2):247-254. Epub 2020 Jan 27.

K.G. Jebsen-Thrombosis Research and Expertise Center (TREC) Department of Clinical Medicine UiT The Arctic University of Norway Tromsø Norway.

Background: The risk of venous thromboembolism (VTE) is increased after a myocardial infarction (MI). Some prothrombotic genotypes associated with VTE have also been associated with risk of MI. Whether prothrombotic single-nucleotide polymorphisms (SNPs) further increase the risk of VTE in MI patients is scarcely investigated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/rth2.12306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040547PMC
February 2020

High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

JIMD Rep 2020 Jan 13;51(1):17-24. Epub 2019 Dec 13.

Department of Genetic Medicine and Pediatrics Johns Hopkins University Baltimore Maryland.

Cobalamin C () deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of presentation. Individuals with late-onset may be asymptomatic until manifesting neuropsychiatric symptoms, thromboembolic events, and renal disease. Although hydroxocobalamin provides a foundation for therapy, optimal dose regimen for adult patients has not been systematically evaluated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012733PMC
January 2020

The Silence Speaks, but We Do Not Listen: Synonymous c.1824C>T Gene Variant in the Last Exon of the Prothrombin Gene as a New Prothrombotic Risk Factor.

Clin Chem 2020 Feb;66(2):379-389

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

Background: Thrombosis is a major global disease burden with almost 60% of cases related to underlying heredity and most cases still idiopathic. Synonymous single nucleotide polymorphisms (sSNPs) are considered silent and phenotypically neutral. Our previous study revealed a novel synonymous FII c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/clinchem/hvz015DOI Listing
February 2020

Epidemiology, morbidity and mortality in Behçet's disease: a cohort study using The Health Improvement Network (THIN).

Rheumatology (Oxford) 2020 Feb 10. Epub 2020 Feb 10.

Institute of Applied Health Research, University of Birmingham, BirminghamUK.

Objectives: The epidemiology of Behçet's disease (BD) has not been well characterized in the UK. Evidence on the risk of cardiovascular disease, thromboembolic disease and mortality in patients with BD compared with the general population is scarce.

Methods: We used a large UK primary care database to investigate the epidemiology of BD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/rheumatology/keaa010DOI Listing
February 2020

Acquired systemic-to-pulmonary shunts in a 6-month-old child: case report and review of the literature.

Cardiol Young 2020 Mar 10;30(3):427-430. Epub 2020 Feb 10.

Pediatric Cardiology & Pulmonology Department, M3C Regional Reference Center, Montpellier University Hospital, Montpellier, France.

The incidence of paediatric venous thromboembolism has steadily increased in the past decade, by nearly 10% per year. Deep venous thrombosis may remain completely asymptomatic during the acute phase and symptoms may occur later, due to complications. We related the case of a 9-month-old child with increasing cyanosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951119003354DOI Listing

Plasminogen activator inhibitor-1 (PAI-1) 4G/5G promoter polymorphisms and risk of venous thromboembolism - a meta-analysis and systematic review.

Vasa 2020 Mar 10;49(2):141-146. Epub 2020 Jan 10.

Department of Oncology, Army Medical Center of PLA, Chongqing, China.

A 4G/5G polymorphism in the promoter region of the plasminogen activator inhibitor type 1 (PAI-1) gene has been reported to enhance the plasma levels of PAI-1, which plays an important role in fibrinolysis disorders and venous thromboembolism, but a large number of studies have reported inconclusive results. Therefore, we performed a meta-analysis to analysis these associations. We performed a publication search for articles published before April 2019 by using the electronic databases of web of Science, Embase, PubMed, CNKI, CBM and WanFang data with the following terms "PAI-1", "polymorphism", "Venous Thromboembolism". Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1024/0301-1526/a000839DOI Listing

Managing thromboembolic risk in patients with hereditary and acquired thrombophilias.

Blood 2020 01;135(5):344-350

Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.

While we are now able to diagnose inherited thrombophilias in a substantial number of patients with venous thromboembolism (VTE), the initial hope that their presence would inform recurrence risk and thus decisions on anticoagulation duration has largely been disappointing. Indeed, the presence or absence of transient provoking risk factors has proven to be the most important determinant of VTE recurrence risk. Thus, particular attention to transient acquired risk factors for VTE remains paramount, as they have generally been shown to carry more prognostic weight than inherited thrombophilias. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood.2019000917DOI Listing
January 2020

A Comprehensive Sequencing-Based Analysis of Allelic Methylation Patterns in Hemostatic Genes in Human Liver.

Thromb Haemost 2020 Feb 30;120(2):229-242. Epub 2019 Dec 30.

Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

Characterizing the relationship between genetic, epigenetic (e.g., deoxyribonucleic acid [DNA] methylation), and transcript variation could provide insights into mechanisms regulating hemostasis and potentially identify new drug targets. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-3401824DOI Listing
February 2020

Prothrombin Arg541Trp Mutation Leads to Defective PC (Protein C) Pathway Activation and Constitutes a Novel Genetic Risk Factor for Venous Thrombosis.

Arterioscler Thromb Vasc Biol 2020 02 26;40(2):483-494. Epub 2019 Dec 26.

From the Department of Laboratory Medicine, Ruijin Hospital (X.W., J.D., L.L., Y.L., Q.D., W.W., X.W.), Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Objective: Defective PC (protein C) pathway predisposes patients to venous thromboembolism (VTE) and is mostly, but not exclusively, attributed to hereditary PC or PS (protein S) deficiencies and activated PC resistance caused by factor V Leiden mutation. Approach and Results: In a patient with acute mesenteric venous thrombosis and positive family history of VTE associated with the impaired PC pathway function determined by thrombin generation test, we identified a novel heterozygous prothrombin mutation p.Arg541Trp. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/ATVBAHA.119.313373DOI Listing
February 2020
6.000 Impact Factor

Klippel-Trenaunay Syndrome.

Authors:
Philip R John

Tech Vasc Interv Radiol 2019 Dec 23;22(4):100634. Epub 2019 Sep 23.

Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada. Electronic address:

Klippel-Trenaunay syndrome or KTS is a complex vascular syndrome associated with overgrowth occurring as a result of somatic mutations in the PIK3CA gene. Patients are diagnosed on the basis of physical findings, sometimes with supportive imaging, of commonly a segmental anomaly with a cutaneous port-wine stain, lymphatic and venous malformations and overgrowth. The severity of the component vascular malformations and the degree of overgrowth varies from patient to patient which demands care given by a multi-professional team with regular follow-up in a specialist clinic. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tvir.2019.100634DOI Listing
December 2019

Familial Clustering of Antiphospholipid Syndrome.

J Coll Physicians Surg Pak 2019 Dec;29(12):1221-1224

Department of Pathology, Shalamar Medical and Dental College, Lahore, Pakistan.

Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterised by thrombosis (venous or arterial) and/or pregnancy-related complications. There is very scanty literature available regarding familial occurrence of APS worldwide and to the best of our knowledge, this important aspect has never been previously reported from Pakistan. We are presenting three patients of a Pakistani family who presented with thrombotic and pregnancy-related complications. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.29271/jcpsp.2019.12.1221DOI Listing
December 2019

Pregnancy-related thrombosis risk in patients with protein C deficiency and comparison with pregnant women with heterozygous factor V Leiden mutation.

Blood Coagul Fibrinolysis 2020 Jan;31(1):55-59

Clinical Haemostasis Unit, Louis Pradel Cardiological University Hospital.

: The risk of pregnancy-related venous thromboembolism is high in patients with inherited thrombophilia. The aim of this study was to compare the risk of pregnancy related-venous thromboembolism of women with protein C (PC) deficiency to patients with heterozygous factor V Leiden mutation. 145 consecutive pregnant women with confirmed PC deficiency or heterozygous factor V Leiden mutation were prospectively enrolled in the study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MBC.0000000000000878DOI Listing
January 2020

Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk.

Endocr Connect 2020 Jan;9(1):34-43

Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus N, Denmark.

Objectives: Klinefelter syndrome (KS), 47,XXY, can be viewed as a disease model for investigating the risk of thrombosis in male hypogonadism and the subsequent risk related to testosterone treatment. We describe rates of thrombotic risk factors, thrombosis and thrombosis mortality in KS and the association with testosterone treatment.

Methods: National registry-based matched cohort study with follow-up from 1995 to 2016 set in Denmark. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EC-19-0433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993257PMC
January 2020

Successful Infliximab Treatment is Associated With Reversal of Clotting Abnormalities in Inflammatory Bowel Disease Patients.

J Clin Gastroenterol 2019 Nov 26. Epub 2019 Nov 26.

Department of Pharmaceutical and Pharmacological Sciences, Laboratory for Therapeutic and Diagnostic Antibodies.

Background And Goals: Active inflammatory bowel diseases (IBD) represent an independent risk factor for venous thromboembolism. The authors investigated the hemostatic profile of IBD patients before and after induction treatment with infliximab, vedolizumab, and methylprednisolone.

Study: This prospective study included 62 patients with active IBD starting infliximab, vedolizumab, and/or methylprednisolone, and 22 healthy controls (HC). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCG.0000000000001290DOI Listing
November 2019

Isolated tumour microparticles induce endothelial microparticle release in vitro.

Blood Coagul Fibrinolysis 2020 Jan;31(1):35-42

Department of Biomedical Science, University of Hull, Hull, UK.

: Cancer induces a hypercoagulable state, resulting in an increased risk of venous thromboembolism. One of the mechanisms driving this is tissue factor (TF) production by the tumour, released in small lipid bound microparticles. We have previously demonstrated that tumour cell line media-induced procoagulant changes in HUVEC. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MBC.0000000000000876DOI Listing
January 2020

Association of β-fibrinogen polymorphisms and venous thromboembolism risk: A PRISMA-compliant meta-analysis.

Medicine (Baltimore) 2019 Nov;98(48):e18204

Department of Vascular Surgery, The First People's Hospital of Lianyungang, Lianyungang, Jiangsu Province, China.

Background: Venous thromboembolism (VTE) is a multifactorial disease in which genetic and acquired risk factors may contribute to disease pathogenesis. Several studies have demonstrated that β-fibrinogen (FGB) polymorphisms are associated with the risk of VTE. However, the results of these studies were not totally consistent. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000018204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6890318PMC
November 2019

Adrenocortical carcinoma and pulmonary embolism from tumoral extension.

Endocrinol Diabetes Metab Case Rep 2019 Nov 25;2019. Epub 2019 Nov 25.

Section on Endocrinology & Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Summary: Adrenococortical carcinoma (ACC) is a rare cancer, occurring at the rate of one case in two million person years. Cushing syndrome or a mixed picture of excess androgen and glucocorticoid production are the most common presentations of ACC. Other uncommon presentations include abdominal pain and adrenal incidentalomas. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EDM-19-0095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893304PMC
November 2019

Hereditary angioedema with deep vein thrombosis and pulmonary thromboembolism during pregnancy.

Taiwan J Obstet Gynecol 2019 Nov;58(6):895-896

Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo 113-8421, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tjog.2019.04.003DOI Listing
November 2019

Genetic Determinants of Lipids and Cardiovascular Disease Outcomes: A Wide-Angled Mendelian Randomization Investigation.

Circ Genom Precis Med 2019 12 22;12(12):e002711. Epub 2019 Nov 22.

Department of Public Health and Primary Care, BHF Cardiovascular Epidemiology Unit (E.A., P.C., J.M.B.R., A.M.M., S. Bell, A.S.B., E.D.A., J.P., S. Burgess), University of Cambridge, United Kingdom.

Background: Evidence from randomized trials has shown that therapies that lower LDL (low-density lipoprotein)-cholesterol and triglycerides reduce coronary artery disease (CAD) risk. However, there is still uncertainty about their effects on other cardiovascular outcomes. We therefore performed a systematic investigation of causal relationships between circulating lipids and cardiovascular outcomes using a Mendelian randomization approach. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.119.002711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922071PMC
December 2019

Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease.

JAMA 2019 Nov 18. Epub 2019 Nov 18.

Cardiology Division, Massachusetts General Hospital, Harvard Medical School, Boston.

Importance: Recent guidelines endorse using history of menopause before age 40 years to refine atherosclerotic cardiovascular disease risk assessments among middle-aged women. Robust data on cardiovascular disease risk in this population are lacking.

Objective: To examine the development of cardiovascular diseases and cardiovascular risk factors in women with natural and surgical menopause before age 40 years. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2019.19191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231649PMC
November 2019

Use of Direct Oral Anticoagulants in Patients with Sickle Cell Disease and Venous Thromboembolism: A Prospective Cohort Study of 12 Patients.

Hemoglobin 2019 Jul - Sep;43(4-5):296-299. Epub 2019 Nov 14.

Department of Internal Medicine, La Timone Hospital, Marseille, France.

Patients with sickle cell disease have an increased risk of venous thromboembolism (VTE) and with a mortality 2-fold higher. The anticoagulation of VTE in a young population is an important question. Indeed, hemorrhagic complications of anticoagulation may occur more frequently than in the general population. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/03630269.2019.1689997DOI Listing

Candidate single nucleotide polymorphisms and thromboembolism in acute lymphoblastic leukemia - A NOPHO ALL2008 study.

Thromb Res 2019 Dec 7;184:92-98. Epub 2019 Nov 7.

Department of Pediatrics and Adolescent Medicine, Rigshospitalet, University Hospital of Copenhagen, Belgdamsvej 9, 2100 Copenhagen, Denmark; Institute of Clinical Medicine, Faculty of Medicine, University of Copenhagen, Nørregade 10, 1165 Copenhagen, Denmark.

Introduction: Thromboembolism is a serious toxicity of acute lymphoblastic leukemia treatment, and contributes to substantial morbidity and mortality. Several single nucleotide polymorphisms have been associated with thromboembolism in the general population; however, their impact in patients with acute lymphoblastic leukemia, particularly in children, remains uncertain.

Materials And Methods: We collected constitutional DNA and prospectively registered thromboembolic events in 1252 patients, 1-45 years, with acute lymphoblastic leukemia included in the Nordic Society of Pediatric Hematology and Oncology ALL2008 protocol in the Nordic and Baltic countries (7/2008-7/2016). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.thromres.2019.11.002DOI Listing
December 2019

Genetic association between plasminogen activator inhibitor-1 rs1799889 polymorphism and venous thromboembolism: Evidence from a comprehensive meta-analysis.

Clin Cardiol 2019 Dec 8;42(12):1232-1238. Epub 2019 Nov 8.

Department of Cardiology, Suining Central Hospital, Suining, China.

Background: Association between plasminogen activator inhibitor-1 (PAI-1) rs1799889 polymorphism and venous thromboembolism (VTE) were explored by many previous studies, yet the findings of these studies were conflicting.

Hypothesis: PAI-1 rs1799889 polymorphism may serve as a genetic marker of VTE. We aimed to better clarify the relationship between PAI-1 rs1799889 polymorphism and VTE in a larger combined population by performing a meta-analysis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/clc.23282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906978PMC
December 2019

Genetics of venous thromboembolism revised.

Authors:
Bengt Zöller

Blood 2019 11;134(19):1568-1570

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood.2019002597DOI Listing
November 2019

Venous thromboembolism GWAS reported genetic makeup and the hallmarks of cancer: Linkage to ovarian tumour behaviour.

Biochim Biophys Acta Rev Cancer 2020 01 2;1873(1):188331. Epub 2019 Nov 2.

Molecular Oncology and Viral Pathology Group-Research Center, Portuguese Institute of Oncology, Edificio Laboratórios, 1° piso, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal; ICBAS, Abel Salazar Institute for the Biomedical Sciences, Rua de Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal; FMUP, Faculty of Medicine, Porto University, Porto, Portugal; CEBIMED, Faculty of Health Sciences, Fernando Pessoa University, 4200-150 Porto, Portugal. Electronic address:

Venous thromboembolism (VTE) is a common cardiovascular disease thought to be the outcome of an intricate interplay between acquired and inherited factors that act together to modify disease risk. Over the years, several single-nucleotide polymorphisms (SNPs) in candidate genes have been associated with disease risk, including F5 rs6025, F2 rs1799963, FGG rs2066865, ABO genetic variants, among others less common. More recently, genome-wide association studies (GWAS) have contributed to the identification of novel VTE-associated SNPs, some of them located in novel genes with no clear role in the haemostatic system, such as SLC44A2 rs2288904 and TSPAN15 rs78707713. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbcan.2019.188331DOI Listing
January 2020
7.845 Impact Factor

Assessment of genetic and non-genetic risk factors for venous thromboembolism in glioblastoma - The predictive significance of B blood group.

Thromb Res 2019 Nov 22;183:136-142. Epub 2019 Oct 22.

Department of Clinical Chemistry and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden. Electronic address:

Introduction: Venous thromboembolism (VTE) is a common problem among patients with glioblastoma multiforme (GBM) and with some other cancers. Here, we evaluated genetic and non-genetic potential risk factors for VTE among GBM patients.

Materials And Methods: A cohort of 139 patients treated with concomitant radiotherapy and temozolomide were included in the study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.thromres.2019.10.009DOI Listing
November 2019

Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.

Nat Genet 2019 11 1;51(11):1574-1579. Epub 2019 Nov 1.

Veterans Affairs Boston Healthcare System, Boston, MA, USA.

Venous thromboembolism is a significant cause of mortality, yet its genetic determinants are incompletely defined. We performed a discovery genome-wide association study in the Million Veteran Program and UK Biobank, with testing of approximately 13 million DNA sequence variants for association with venous thromboembolism (26,066 cases and 624,053 controls) and meta-analyzed both studies, followed by independent replication with up to 17,672 venous thromboembolism cases and 167,295 controls. We identified 22 previously unknown loci, bringing the total number of venous thromboembolism-associated loci to 33, and subsequently fine-mapped these associations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-019-0519-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858581PMC
November 2019
8 Reads

Modeling Complexity: The Case of Cancer-Related Venous Thromboembolism.

Authors:
Alok A Khorana

Thromb Haemost 2019 11 30;119(11):1713-1715. Epub 2019 Oct 30.

Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1700543DOI Listing
November 2019

Systemic and Local Factors' Influence on the Topological Differences in Deep Vein Thrombosis.

Medicina (Kaunas) 2019 Oct 16;55(10). Epub 2019 Oct 16.

Department of Pharmacology, Toxicology and Clinical Pharmacology, "Iuliu Haţieganu" University of Medicine and Pharmacy, 400337 Cluj-Napoca, Romania.

Deep vein thrombosis (DVT) is a common cause of intra-hospital morbidity and mortality, and its most severe complication is pulmonary thromboembolism. The risk factors that influence the apparition of DVT are generally derived from Virchow's triad. Since the most severe complications of DVT occur in proximal rather than distal deep vein thrombosis, the aim of this study was to identify the factors influencing the apparition of proximal DVT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/medicina55100691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6843345PMC
October 2019
4 Reads

Prediction of recurrent venous thrombosis in all patients with a first venous thrombotic event: The Leiden Thrombosis Recurrence Risk Prediction model (L-TRRiP).

PLoS Med 2019 10 11;16(10):e1002883. Epub 2019 Oct 11.

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

Background: Recurrent venous thromboembolism (VTE) is common. Current guidelines suggest that patients with unprovoked VTE should continue anticoagulants unless they have a high bleeding risk, whereas all others can stop. Prediction models may refine this dichotomous distinction, but existing models apply only to patients with unprovoked first thrombosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pmed.1002883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788686PMC
October 2019
1 Read

Mechanisms of activation induced by antiphospholipid antibodies in multiple sclerosis: Potential biomarkers of disease?

J Immunol Methods 2019 11 13;474:112663. Epub 2019 Sep 13.

Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; Neurology Clinic C, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. Electronic address:

Multiple sclerosis (MS) is a chronic, multifactorial, inflammatory disease of the central nervous system where demyelination leads to neurodegeneration and disability. The pathogenesis of MS is incompletely understood, with prevalence of antiphospholipid antibodies (aPL) speculated to contribute to MS pathogenesis. In fact, MS shares common clinical features with the Antiphospholipid Syndrome (APS) such as venous thromboembolism. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00221759193025
Publisher Site
http://dx.doi.org/10.1016/j.jim.2019.112663DOI Listing
November 2019
2 Reads

Venous Thromboembolism at High Altitude: Our Approach to Patients at Risk.

High Alt Med Biol 2019 12 3;20(4):331-336. Epub 2019 Sep 3.

Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, Utah.

Venous thromboembolism (VTE), including deep vein thrombosis and pulmonary embolism, is a prevalent disorder that confers substantial cardiovascular morbidity and, in serious cases, death. VTE has a complex and incompletely understood etiopathogenesis with genetic, acquired, and environmental risk factors. As the focus of this review, one environmental risk factor, which may interact with other risk factors such as hereditary and/or acquired thrombophilias, is travel to high altitude (HA), although current evidence is limited. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/ham.2019.0049DOI Listing
December 2019
2 Reads

High risk of thrombosis recurrence in patients with homozygous and compound heterozygous factor V R506Q (Factor V Leiden) and prothrombin G20210A.

Thromb Res 2019 Oct 1;182:75-78. Epub 2019 Aug 1.

Division of Hematology-Oncology, Department of Medicine, Penn State Hershey Medical Center, Hershey, PA, USA.; The Pennsylvania State University, College of Medicine, Hershey, PA, USA.

Objective: Heterozygous Factor V R506Q [Factor V Leiden (FVL)] and prothrombin G20210A (PGM), the most common inherited thrombotic disorders in the Caucasian population, confer a low-moderate risk for first venous thromboembolic (VTE) event. We investigated the thrombotic complications of rare homozygous and compound heterozygous FVL and PGM.

Methods: A cohort of patients with homozygous and compound heterozygous FVL and PGM were evaluated at a major referral center in Central Pennsylvania, USA between June 2001 and March 2019. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.thromres.2019.07.030DOI Listing
October 2019
1 Read

Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

Blood 2019 11;134(19):1645-1657

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

Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality. To advance our understanding of the biology contributing to VTE, we conducted a genome-wide association study (GWAS) of VTE and a transcriptome-wide association study (TWAS) based on imputed gene expression from whole blood and liver. We meta-analyzed GWAS data from 18 studies for 30 234 VTE cases and 172 122 controls and assessed the association between 12 923 718 genetic variants and VTE. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood.2019000435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871304PMC
November 2019
8 Reads