2,380 results match your criteria Genetics of Venous Thromboembolism


The Canadian Gynecologic Oncology Peri-operative Management Survey: re-examining Enhanced Recovery After Surgery (ERAS) recommendations.

Int J Gynecol Cancer 2022 Jun 24. Epub 2022 Jun 24.

Department of Obstetrics & Gynecology, University of Calgary, Calgary, Alberta, Canada.

Objective: Enhanced Recovery After Surgery (ERAS) is a global surgery quality improvement program associated with improved clinical outcomes across the spectrum of disciplines, including gynecologic oncology. The objective of this study was to re-survey the practice of ERAS Gynecologic Oncology guidelines across Canada, after the initial guidelines publication (2016), subsequent guidelines update (2019), and Society of Gynecologic Oncology of Canada (GOC) education events.

Methods: A survey was created and developed through the GOC Communities of Practice ERAS section and distributed to all members between March and November 2021. Read More

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Systemic Lupus Erythematosus and Cardiovascular Disease: A Mendelian Randomization Study.

Front Immunol 2022 6;13:908831. Epub 2022 Jun 6.

Department of Cardiovascular Surgery, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.

Background: Previous studies have shown that patients with systemic lupus erythematosus (SLE) tend to have a higher risk of cardiovascular disease (CVD), but the potential causal relationship between genetic susceptibility to SLE and CVD risk is not clear. This study systematically investigated the potential association between genetically determined SLE and the risk of CVD.

Methods: The genetic tools were obtained from genome-wide association studies of SLE and CVD, with no overlap between their participating populations. Read More

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The Underlying Molecular Basis and Mechanisms of Venous Thrombosis in Patients with Osteomyelitis: A Data-Driven Analysis.

Genet Res (Camb) 2022 6;2022:5672384. Epub 2022 Jun 6.

Department of Orthopaedics, Fuzhou Second Hospital of Xiamen University, School of Medicine, Xiamen University, Fuzhou 350007, China.

Objective: Osteomyelitis (OM) is one of the most risky and challenging diseases. Emerging evidence indicates OM is a risk factor for increasing incidence of venous thromboembolism (VTE) development. However, the mechanisms have not been intensively investigated. Read More

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Role of circulating polyunsaturated fatty acids on cardiovascular diseases risk: analysis using Mendelian randomization and fatty acid genetic association data from over 114,000 UK Biobank participants.

BMC Med 2022 06 13;20(1):210. Epub 2022 Jun 13.

MRC Integrative Epidemiology Unit, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK.

Background: Despite early interest in the health effects of polyunsaturated fatty acids (PUFA), there is still substantial controversy and uncertainty on the evidence linking PUFA to cardiovascular diseases (CVDs). We investigated the effect of plasma concentration of omega-3 PUFA (i.e. Read More

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Impact of high altitude on the incidence of postoperative venous thromboembolism and its genetic susceptibility: A meta-analysis and systematic review.

Sci Total Environ 2022 Sep 9;838(Pt 4):156632. Epub 2022 Jun 9.

Department of Cardiovascular Surgery, The General Hospital of Western Theater Command, Chengdu 610083, China. Electronic address:

Background: The effect of high-altitude (HA) on venous thromboembolism (VTE) and its mechanism remains ambiguous. To clarify this, we aimed to conduct a meta-analysis and systematic review to evaluate the incidence of VTE at HA and comparatively low altitude (LA) and figure out the intrinsic risk factors such as susceptibility genes of patients with VTE at HA.

Methods: We selected studies that explored the risk factors for HA and VTE by searching PubMed, Embase, and Web of Science to analyze the impact of HA on VTE. Read More

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September 2022

Describing characteristics of adults with and without congenital heart defects hospitalized with COVID-19.

Birth Defects Res 2022 Jun 11. Epub 2022 Jun 11.

Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.

Background: We sought to describe patient characteristics in adults with and without congenital heart defects (CHDs) during hospitalization for COVID-19.

Methods: We analyzed data collected by Optum®, a nationally representative database of electronic medical records, for 369 adults with CHDs and 41,578 without CHDs hospitalized for COVID-19 between January 1, 2020, and December 10, 2020. We used Poisson regression to describe and compare epidemiologic characteristics, heart-related conditions, and severe outcomes between these two groups. Read More

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Pulmonary embolism in children, a real challenge for the pediatrician: a case report and review of the literature.

Acta Biomed 2022 06 6;93(S3):e2022055. Epub 2022 Jun 6.

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Venous thromboembolism (VTE) is a coagulopathic disease that may appear with deep vein thrombosis (DVT), pulmonary embolism (PE), or both and is responsible for increased mortality and morbidity in children. We report a case of PE in a male teenager obese boy in the setting of a thrombophilic genetic disorder, infective condition, and immobility. Our experience underlines as PE in childhood is a multifactorial disease in which clinical risk factors and inherited thrombophilia contribute to the development. Read More

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Shared genetic etiology and causality between COVID-19 and venous thromboembolism: evidence from genome-wide cross trait analysis and bi-directional Mendelian randomization study.

medRxiv 2022 Jun 1. Epub 2022 Jun 1.

Venous thromboembolism (VTE) occurs in up to one third patients with COVID-19. VTE and COVID-19 may share a common genetic architecture, which has not been clarified yet. To fill this gap, we leveraged summary-level genetic data from the latest COVID-19 host genetics consortium and UK Biobank and examined the shared genetic etiology and causal relationship between COVID-19 and VTE. Read More

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Trousseau Syndrome in a 25-Year-Old Woman with Occult Colon Malignancy, Lynch Syndrome, and Chronic Thromboembolic Pulmonary Hypertension.

Tex Heart Inst J 2022 05;49(3)

Division of Cardiovascular and Thoracic Surgery, Indiana University School of Medicine, Indianapolis, Indiana.

We present a rare case of thrombosis associated with an occult colon malignancy (Trousseau syndrome) in a 25-year-old woman who also presented with previously unidentified Lynch syndrome and acute-on-chronic thromboembolic pulmonary hypertension. Staged treatment included bilateral pulmonary endarterectomy under deep hypothermic circulatory arrest, followed 11 days later by laparoscopic subtotal colectomy and creation of a primary anastomosis. The patient tolerated both procedures well and recovered normal functional status. Read More

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First-Line Osimertinib in Patients with EGFR-Mutant Advanced Non-Small Cell Lung Cancer: Outcome and Safety in the Real World: FLOWER Study.

Oncologist 2022 03;27(2):87-e115

Department of Surgery, Oncology, and Gastroenterology, University of Padova, Padova, Italy.

Background: Osimertinib became the standard treatment for patients with untreated EGFR-mutant advanced non-small cell lung cancer (aNSCLC) following results reported in the phase III randomized FLAURA trial. Because of strict exclusion criteria, patient populations included in pivotal trials are only partially representative of real-world patients.

Methods: We designed an observational, prospective, multicenter study enrolling patients with EGFR-mutant aNSCLC receiving first-line osimertinib to evaluate effectiveness, safety, and progression patterns in the real-world. Read More

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A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A Gene Splice Site Mutation in a Patient with Aneurysms.

Genes (Basel) 2022 Apr 22;13(5). Epub 2022 Apr 22.

Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, 30-705 Krakow, Poland.

Objectives: Protein C (PC) deficiency is an inherited thrombophilia with a prevalence of 0.5% in the general population and 3% in subjects with a first-time deep vein thrombosis (DVT). Here we report a series of 14 PC-deficient Polish patients with comprehensive clinical and molecular characteristics, including long-term follow-up data and a deep mutational analysis of the gene. Read More

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Factor V Leiden: Development of VTE in Surgery and Trauma Patients: A Systematic Review.

Dimens Crit Care Nurs 2022 Jul-Aug 01;41(4):190-199

Background: Factor V Leiden (FVL) is a hereditary thrombophilia, which causes the blood to be more hypercoagulable; in essence, the blood tends to clot more easily, especially under certain circumstances. It is the most common genetic mutation, causing thrombophilia in patients of white background. Patients that have FVL are at a higher risk to develop venous thromboembolism (VTE) after surgery and trauma. Read More

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Whole exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.

Hum Mol Genet 2022 May 12. Epub 2022 May 12.

Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.

Plasma levels of fibrinogen, coagulation factors VII and VIII, and von Willebrand factor (vWF) are four intermediate phenotypes that are heritable and have been associated with the risk of clinical thrombotic events. To identify rare and low-frequency variants associated with these hemostatic factors, we conducted whole exome sequencing in 10 860 individuals of European ancestry (EA) and 3529 African Americans (AAs) from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium and the National Heart, Lung, and Blood Institute's Exome Sequencing Project (ESP). Gene-based tests demonstrated significant associations with rare variation (minor allele frequency < 5%) in FGG (with fibrinogen, p = 9. Read More

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Cardiovascular Disease Among Patients With AML and CHIP-Related Mutations.

JACC CardioOncol 2022 Mar 15;4(1):38-49. Epub 2022 Mar 15.

Ted Rogers Program in Cardiotoxicity Prevention, Peter Munk Cardiac Center, Toronto General Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada.

Background: Clonal hematopoiesis of indeterminate potential (CHIP) is a novel cardiovascular disease (CVD) risk factor in individuals without acute myeloid leukemia (AML).

Objectives: The aim of this study was to examine the association between mutations associated with CHIP (CHIP-related mutations) identified in patients at AML diagnosis and the risk for cardiovascular events (CVEs).

Methods: This was a retrospective cohort study of 623 patients with AML treated between 2015 and 2018 who underwent DNA analysis. Read More

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Combined analysis of clinical and laboratory markers to predict the risk of venous thromboembolism in patients with IDH1 wild-type glioblastoma.

Support Care Cancer 2022 Jul 13;30(7):6063-6069. Epub 2022 Apr 13.

Department of Neurosurgery, Zhongnan Hospital, Wuhan University, Wuhan, Hubei, China.

Purpose: We have combined analysis of clinical and laboratory markers to try to find an optimal model to predict venous thromboembolism in isocitrate dehydrogenase 1 (IDH1) wild-type glioblastoma (GBM) by a prospective research.

Methods: Patients with newly histologically confirmed IDH1 wild-type (IDH1wt) GBM were recruited for this study. Status of IDH1, PTEN, P53, BRAF, MGMT promoter methylation (MGMTp), and TERT promoter (TERTp) was determined using genetic sequencing through polymerase chain reaction (PCR). Read More

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Antibodies to blood coagulation components are implicated in patients with multiple sclerosis.

Mult Scler Relat Disord 2022 Jun 31;62:103775. Epub 2022 Mar 31.

Postgraduate School, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; Department of Neuroimmunology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. Electronic address:

Background: The strong link between innate immunity and thrombosis/coagulation has recently been investigated in the light of antibodies directed against serine proteases of the coagulation pathway. The antibodies have been proposed as contributing factors to venous thromboembolism development and as key molecules in the initiation of signaling inflammatory pathways in neuroinflammatory diseases. Preliminary studies of Multiple Sclerosis (MS) progression characteristics with the reactivity of antibodies against coagulant components are limited. Read More

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Inherited Thrombophilias Are Associated With a Higher Risk of COVID-19-Associated Venous Thromboembolism: A Prospective Population-Based Cohort Study.

Circulation 2022 03 21;145(12):940-942. Epub 2022 Mar 21.

Australian Centre for Blood Diseases, Monash University, Melbourne, Victoria, Australia (H.S., H.T., J.M.).

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Association between genetic mutations and risk of venous thromboembolism in patients with solid tumor malignancies: A systematic review and meta-analysis.

Thromb Res 2022 05 4;213:47-56. Epub 2022 Mar 4.

Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Oncology, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Epidemiology and Biostatistics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

Background: Venous thromboembolism (VTE) is a frequent complication in cancer patients and is associated with significant morbidity, mortality, and burden on the health care system [1]. Previous studies have suggested an association between genetic mutations in solid tumors and VTE risk.

Methods: MEDLINE and EMBASE databases were searched from inception to February 2021. Read More

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Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations.

J Thromb Haemost 2022 Jun 29;20(6):1331-1349. Epub 2022 Mar 29.

Genomics of Complex Disease Unit, Sant Pau Biomedical Research Institute. IIB-Sant Pau, Barcelona, Spain.

Background: Multi-phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes.

Objectives: To discover novel genetic associations by combining summary data of correlated hemostatic traits and disease events. Read More

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Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus.

Nat Commun 2022 03 9;13(1):1222. Epub 2022 Mar 9.

British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Many individual genetic risk loci have been associated with multiple common human diseases. However, the molecular basis of this pleiotropy often remains unclear. We present an integrative approach to reveal the molecular mechanism underlying the PROCR locus, associated with lower coronary artery disease (CAD) risk but higher venous thromboembolism (VTE) risk. Read More

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Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study.

J Thromb Haemost 2022 Jun 19;20(6):1421-1427. Epub 2022 Mar 19.

Regeneron Genetics Center, Tarrytown, New York, USA.

Background: Severe alpha-1-antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case-control study.

Objectives: This study aimed to determine the genetic variation in the SERPINA1 gene and a possible thrombotic risk of these variants in a population-based cohort study.

Patients/methods: The coding sequence of SERPINA1 was analyzed for the Z (rs28929474), S (rs17580), and other qualifying variants in 28,794 subjects without previous VTE (born 1923-1950, 60% women), who participated in the Malmö Diet and Cancer study (1991-1996). Read More

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Warfarin dosing strategies evolution and its progress in the era of precision medicine, a narrative review.

Int J Clin Pharm 2022 Jun 5;44(3):599-607. Epub 2022 Mar 5.

School of Pharmacy, University of Florida, Gainesville, USA.

Background For decades, vitamin K antagonists and specifically warfarin, have been the sole agents used orally to manage thromboembolic conditions, including stroke and venous thromboembolism (VTE). Several factors lead to warfarin dose variability, including genetic and non-genetic factors which made warfarin management challenging especially at the initiation phase. To overcome the challenges with warfarin dosing at initiation, strategies other than conventional or fixed dosing were introduced and explored. Read More

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Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism: A case report and literature review.

Medicine (Baltimore) 2022 Mar;101(9):e29013

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Rationale: Plasminogen plays an important role in fibrinolysis and is encoded by the PLG gene. The missense variant PLG Ala620Thr is the major cause of dysplasminogenemia in East Asian countries, including Korea. Although dysplasminogenemia was first reported in a Japanese patient with recurrent venous thromboembolism (VTE), subsequent studies have not demonstrated any clear association between the PLG Ala620Thr variant and the risk of VTE. Read More

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Methylenetetrahydrofolate reductase (MTHFR) gene c.665C>T and c.1286A>C and SERPINE1 -675 4G/5G polymorphisms in Polish patients with venous thromboembolism and cryptogenic ischemic stroke.

Pol Arch Intern Med 2022 02 17;132(2). Epub 2022 Feb 17.

John Paul II Hospital, Kraków, Poland; Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, Kraków, Poland.

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February 2022

Incidence and Risk Factors for Venous Thromboembolism in Female Patients Undergoing Breast Surgery.

Cancers (Basel) 2022 Feb 16;14(4). Epub 2022 Feb 16.

Center for Hemorrhagic and Thrombotic Diseases, ASUFC "Santa Maria della Misericordia", 33100 Udine, Italy.

Albeit it does not have the highest venous thromboembolism (VTE) incidence compared to other neoplasms, breast cancer contributes to many VTE events because it is the most diagnosed tumor in women. We aim to analyze the occurrence and timing of VTE during the follow-up of patients who underwent breast surgery, the possible correlated factors, and the overall survival. This retrospective study included all female patients diagnosed with mammary pathology and surgically treated in our clinic between January 2002 and January 2012. Read More

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February 2022

Vine Tea (Ampelopsis grossedentata) Extract Attenuates CCl -Induced Liver Injury by Restoring Gut Microbiota Dysbiosis in Mice.

Mol Nutr Food Res 2022 05 1;66(9):e2100892. Epub 2022 Mar 1.

College of Basic Medical Sciences, Hubei University of Chinese Medicine, Huangjiahu West Road 16, Wuhan, 430065, PR China.

Scope: Vine tea (Ampelopsis grossedentata), a traditional Chinese tea, has displayed various biological activities. The authors aim to investigate the effect of Vine Tea (Ampelopsis grossedentata) extract (VTE) on carbon tetrachlorid (CCl )induced acute liver injury (ALI) in mice and to explore the underlying role of gut microbiota during the treatment.

Methods And Results: C57BL/6J mice injected with CCl are treated with VTE for 6 weeks. Read More

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Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.

Int J Mol Sci 2022 Feb 5;23(3). Epub 2022 Feb 5.

Service d'Hématologie Biologique, Assistance Publique Hôpitaux de Paris-Centre (AP-HP.CUP), F-75015 Paris, France.

Severe inherited thrombophilia includes rare deficiencies of natural anticoagulants (antithrombin and proteins C and S) and homozygous or combined factor V Leiden and FII G20210A variants. They are associated with a high thrombosis risk and can impact the duration of anticoagulation therapy for patients with a venous thromboembolism (VTE) event. Therefore, it is important to diagnose thrombophilia and to use adapted anticoagulant therapy. Read More

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February 2022

Long-term safety and efficacy of upadacitinib or adalimumab in patients with rheumatoid arthritis: results through 3 years from the SELECT-COMPARE study.

RMD Open 2022 02;8(1)

AbbVie Inc, North Chicago, Illinois, USA.

Objectives: To assess the long-term safety and efficacy of the Janus kinase inhibitor upadacitinib versus adalimumab over 3 years in the ongoing long-term extension (LTE) of SELECT-COMPARE, a randomised controlled phase 3 trial of patients with active rheumatoid arthritis and inadequate response to methotrexate (MTX).

Methods: Patients on stable background MTX were randomised 2:2:1 to upadacitinib 15 mg, placebo or adalimumab 40 mg. Patients with an insufficient response were switched by week 26 from placebo to upadacitinib, upadacitinib to adalimumab or adalimumab to upadacitinib. Read More

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February 2022

PROS1 variant in sudden death case of pulmonary embolism caused by calcification in the inferior vena cava: The importance of postmortem genetic analysis.

Leg Med (Tokyo) 2022 Mar 29;55:102029. Epub 2022 Jan 29.

Department of Legal Medicine, Hyogo College of Medicine, Hyogo, Japan.

A Japanese man in his 30s died suddenly. Postmortem computed tomography and autopsy revealed a pulmonary embolism from an organizing thrombus in the inferior vena cava as the cause of death. Genomic analysis of congenital thrombophilia-related genes (i. Read More

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