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venous thrombosis genetics

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https://www.readbyqxmd.com/read/29344582/factor-xiii-in-plasma-but-not-in-platelets-mediates-red-blood-cell-retention-in-clots-and-venous-thrombus-size-in-mice
#1
Sravya Kattula, James R Byrnes, Sara M Martin, Lori A Holle, Brian C Cooley, Matthew J Flick, Alisa S Wolberg
The transglutaminase factor XIII (FXIII) stabilizes clots against mechanical and biochemical disruption and is essential for hemostasis. In vitro and in vivo models of venous thrombosis demonstrate that FXIII mediates clot size by promoting red blood cell (RBC) retention. However, the key source of FXIII and whether FXIII activity can be reduced to suppress thrombosis without imposing deleterious hemostatic consequences are 2 critical unresolved questions. FXIII is present in multiple compartments, including plasma (FXIIIplasma) as a heterotetramer of A2 and B2 subunits and platelets (FXIIIplt) as an A2 homodimer...
January 9, 2018: Blood Advances
https://www.readbyqxmd.com/read/29325825/-thromboembolic-disease-in-pediatric-oncology
#2
A Theron, C Biron-Andreani, S Haouy, L Saumet, M Saguintah, E Jeziorski, N Sirvent
The survival rate of children with cancer is now close to 80 %, as a result of continuous improvement in diagnostic and treatment procedures. Prevention and treatment of treatment-associated complications is now a major challenge. Thromboembolic venous disease, due to multifactorial pathogenesis, is a frequent complication (up to 40 % asymptomatic thrombosis in children with cancer), responsible for significant morbidity. Predominantly in children with acute lymphoblastic leukemia, lymphoma, or sarcoma, thromboembolic disease justifies primary prophylaxis in certain populations at risk, whether genetic or environmental...
January 8, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29321366/venous-thromboembolism-associated-with-protein-s-deficiency-due-to-arg451-mutation-in-pros1-gene-a-case-report-and-a-literature-review
#3
Ewa Wypasek, Marek Karpinski, Martine Alhenc-Gelas, Anetta Undas
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. Here, we report the first Polish case with PS deficiency caused by the p.Arg451* in the PROS1 gene detected in a 21-year-old man with trauma-induced venous thromboembolism. To our knowledge, we provided the review of all the available data on this mutation (a total of 56 cases). The proband, his mother and his sister were screened for thrombophilia...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29296762/whole-exome-sequencing-in-evaluation-of-patients-with-venous-thromboembolism
#4
Eun-Ju Lee, Daniel J Dykas, Andrew D Leavitt, Rodney M Camire, Eduard Ebberink, Pablo García de Frutos, Kavitha Gnanasambandan, Sean X Gu, James A Huntington, Steven R Lentz, Koen Mertens, Christopher R Parish, Alireza R Rezaie, Peter P Sayeski, Caroline Cromwell, Noffar Bar, Stephanie Halene, Natalia Neparidze, Terri L Parker, Adrienne J Burns, Anne Dumont, Xiaopan Yao, Cassius Iyad Ochoa Chaar, Jean M Connors, Allen E Bale, Alfred Ian Lee
Genetics play a significant role in venous thromboembolism (VTE), yet current clinical laboratory-based testing identifies a known heritable thrombophilia (factor V Leiden, prothrombin gene mutation G20210A, or a deficiency of protein C, protein S, or antithrombin) in only a minority of VTE patients. We hypothesized that a substantial number of VTE patients could have lesser-known thrombophilia mutations. To test this hypothesis, we performed whole-exome sequencing (WES) in 64 patients with VTE, focusing our analysis on a novel 55-gene extended thrombophilia panel that we compiled...
July 11, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296750/multiplexed-targeted-proteomic-assay-to-assess-coagulation-factor-concentrations-and-thrombosis-associated-cancer
#5
Yassene Mohammed, Bart J van Vlijmen, Juncong Yang, Andrew J Percy, Magnus Palmblad, Christoph H Borchers, Frits R Rosendaal
The plasma levels of pro- and anticoagulant proteins are important markers for venous thrombosis (VT) risk and can be affected by both genetic and acquired factors, including cancer. Generally, these markers are measured using activity- or antibody-based assays. Targeted proteomics with stable-isotope-labeled internal standards has proven adept at the rapid, multiplex, and precise quantification of proteins in complex biological samples such as plasma. We used liquid chromatography coupled to multiple reaction monitoring (MRM) mass spectrometry to evaluate the concentrations of 31 coagulation- and fibrinolysis-related proteins in plasma from 25 healthy controls, 25 patients with VT, and 25 patients with VT who were also diagnosed with cancer...
June 27, 2017: Blood Advances
https://www.readbyqxmd.com/read/29290408/pulmonary-emboli-and-deep-venous-thrombosis-during-adolescence
#6
Celeste Schultz, Rebecca Doran
Pulmonary emboli (PE) and deep venous thrombus (DVT) are two conditions considered to affect primarily adults. These conditions, however, can and do affect neonates, toddlers, school-age children, and adolescents. Factors contributing to the development of PE and DVT are often associated with genetic mutations in Antithrombin III, Protein C, and Protein S. This article presents a primary care case study of an adolescent who was diagnosed with and underwent treatment for bilateral PE and a DVT, and reviews the underlying primary genetic mutations, diagnostic workup, and management of his clinical condition...
December 28, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/29125690/cancer-and-risk-of-cerebral-venous-thrombosis-a-case-control-study
#7
S M Silvis, S Hiltunen, E Lindgren, K Jood, S M Zuurbier, S Middeldorp, J Putaala, S C Cannegieter, T Tatlisumak, J M Coutinho
BACKGROUND: Cancer is an established risk factor for leg vein thrombosis and pulmonary embolism. Controlled studies assessing the risk of cerebral venous thrombosis (CVT) in patients with cancer have not been performed. OBJECTIVE: To assess whether cancer is a risk factor for CVT. PATIENTS/METHODS: Case-control study. We assessed consecutive adult patients with CVT from three academic hospitals from 1987-2015, and control subjects from the Dutch MEGA study (Multiple Environmental and Genetic Assessment of risk factors for venous thrombosis)...
November 10, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29108964/familial-early-onset-deep-venous-thrombosis-associated-with-a-novel-hrg-mutation
#8
Junfu Luo, Wenwen Zhang, Qingfu Zeng, Weimin Zhou, Qing Cao, Wei Zhou
Deep venous thrombosis (DVT) remains a serious clinical problem that affects millions of people worldwide. Some DVT cases are caused by inherited thrombophilia derived from genetic aberrations and several disease-causing genes have been identified so far. Among them, HRG is an uncommon one with limited related reports. Here, we reported on a family with early-onset DVT where acquired risky conditions were excluded. Whole exome sequencing revealed a novel heterozygous single base pair substitution in exon 2 of HRG gene resulting in a conserved residue replacement of the protein (c...
November 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29082360/minor-plasma-lipids-modulate-clotting-factor-activities-and-may-affect-thrombosis-risk
#9
Hiroshi Deguchi, Darlene J Elias, John H Griffin
Different minor abundance plasma lipids significantly influence thrombin generation in vitro and significant differences in such lipids are linked to risk for venous thrombosis. Some plasma sphingolipids including glucosylceramide, lyso-sulfatide and sphingosine have anticoagulant properties whereas, conversely, some plasma phospholipid derivatives, including certain lyso-phospholipids and ethanolamides, have procoagulant properties. Plasma metabolite profiling of venous thrombosis patients showed association of venous thrombosis with decreased plasma long-chain acylcarntines, leading to discovery of their anticoagulant activity as inhibitors of factor Xa...
July 2017: Research and Practice in Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29054763/association-of-genetic-variants-of-hemostatic-genes-with-myocardial-infarction-in-egyptian-patients
#10
Amal Ahmed Abd El-Fatah, Nermin Abdel Hamid Sadik, Heba Sedrak, Ahmed Battah, Mai Nabil
Hemostatic genes polymorphisms are well known to be associated with venous thrombosis, but their association with arterial thrombosis especially myocardial infarction (MI) remains to be clarified. We investigated the role of three hemostatic gene polymorphisms, prothrombin G20210A, factor XIII (FXIII) Val34Leu (G/T), and fibrinogen-β-455G/A and their coexistence in Egyptian patients with MI. The possible correlation of these polymorphisms with plasma fibrinogen level was also evaluated. The study included 120 patients with MI and 60 healthy volunteers...
October 17, 2017: Gene
https://www.readbyqxmd.com/read/29040284/the-prevalence-and-clinical-manifestation-of-hereditary-thrombophilia-in-korean-patients-with-unprovoked-venous-thromboembolisms
#11
Su Yeon Lee, Eun Kyoug Kim, Min Sun Kim, Sun Hye Shin, Haseong Chang, Shin Yi Jang, Hee-Jin Kim, Duk-Kyung Kim
BACKGROUND: Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We investigated the incidence and clinical characteristics of HT in Korean patients with unprovoked venous thromboembolism (VTE). METHODS: Among 369 consecutive patients with thromboembolic event who underwent thrombophilia tests, we enrolled 222 patients diagnosed with unprovoked VTE. The presence of HT was confirmed by DNA sequencing of the genes that cause deficits in natural anticoagulants (NAs)...
2017: PloS One
https://www.readbyqxmd.com/read/29031496/ischemic-stroke-in-a-patient-with-parry-romberg-syndrome
#12
Victoria Ebiana, Sandeep Singh, Shaweta Khosa, Negar Moheb, Bhavesh Trikamji, Neal M Rao, Shri K Mishra
OBJECTIVE: This study aimed to discuss a case of a patient with a known diagnosis of Parry-Romberg syndrome (PRS) presenting with ischemic stroke, the second such reported case. BACKGROUND: PRS is a rare genetic disorder with progressive hemifacial atrophy, which usually presents within the first 2 decades of life. Neurologic manifestations include trigeminal neuralgia with associated deafness, hemifacial pain with associated migraine headaches, seizures, movement disorders, and neuropsychiatric symptoms...
October 11, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28973620/effect-of-genotype-guided-warfarin-dosing-on-clinical-events-and-anticoagulation-control-among-patients-undergoing-hip-or-knee-arthroplasty-the-gift-randomized-clinical-trial
#13
RANDOMIZED CONTROLLED TRIAL
Brian F Gage, Anne R Bass, Hannah Lin, Scott C Woller, Scott M Stevens, Noor Al-Hammadi, Juan Li, Tomás Rodríguez, J Philip Miller, Gwendolyn A McMillin, Robert C Pendleton, Amir K Jaffer, Cristi R King, Brandi DeVore Whipple, Rhonda Porche-Sorbet, Lynnae Napoli, Kerri Merritt, Anna M Thompson, Gina Hyun, Jeffrey L Anderson, Wesley Hollomon, Robert L Barrack, Ryan M Nunley, Gerard Moskowitz, Victor Dávila-Román, Charles S Eby
Importance: Warfarin use accounts for more medication-related emergency department visits among older patients than any other drug. Whether genotype-guided warfarin dosing can prevent these adverse events is unknown. Objective: To determine whether genotype-guided dosing improves the safety of warfarin initiation. Design, Setting, and Patients: The randomized clinical Genetic Informatics Trial (GIFT) of Warfarin to Prevent Deep Vein Thrombosis included patients aged 65 years or older initiating warfarin for elective hip or knee arthroplasty and was conducted at 6 US medical centers...
September 26, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28971443/cerebral-thrombosis-a-neurogenetic-approach
#14
Christos Yapijakis
Cerebral venous thrombosis (CVT) is a severe multifactorial condition with various clinical manifestations that may include headache, papilledema, seizures, focal deficits, coma and death. The mortality rate of untreated CVT is up to 50%, but it drops to 10% when CVT is properly treated. Prevention of CVT is feasible through healthy lifestyle, genetic counseling, molecular genetic analysis for common thrombophilia-related mutations, and prophylactic anticoagulative medication.
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#15
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
November 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28876531/treatment-of-plasminogen-deficiency-patients-with-fresh-frozen-plasma
#16
Hande Kızılocak, Nihal Ozdemir, Gürcan Dikme, Begüm Koç, Ayşe Ayzıt Atabek, Haluk Çokuğraş, Güzin İskeleli, Buket Dönmez-Demir, Nina Merete Christiansen, Maike Ziegler, Hilal Ozdağ, Volker Schuster, Tiraje Celkan
Congenital plasminogen (Plg) deficiency leads to the development of ligneous membranes on mucosal surfaces. Here, we report our experience with local and intravenous fresh frozen plasma (FFP). We retrospectively reviewed medical files of 17 patients and their eight first-degree relatives. Conjunctivitis was the main complaint. Thirteen patients were treated both with intravenous and conjunctival FFP. Venous thrombosis did not develop in any. Genetic evaluation revealed heterogeneous mutations as well as polymorphisms...
September 6, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28872889/association-between-the-lower-extremity-deep-venous-thrombosis-the-warfarin-maintenance-dose-and-cyp2c9-3-cyp2d6-10-and-cyp3a5-3-genetic-polymorphisms-a-case-control-study
#17
Shang Ju, Yu Gao, Xin Cao, Xiao-Fu Zhang, Cheng-Cheng Yan, Feng-Tong Liu
OBJECTIVE: This study explored the association between the CYP2C9*3/CYP2D6*10/CYP3A5*3 genetic polymorphisms with lower extremity deep venous thrombosis (LEDVT) and the warfarin maintenance dose. METHODS: Five hundred thirty-six patients who were pathologically diagnosed with LEDVT after surgery were included in the LEDVT group. At the same time, 540 patients without LEDVT who underwent surgery were recruited as the control group. Patients were given warfarin at an initial dose of 2...
September 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28866378/association-of-impaired-renal-function-with-venous-thrombosis-a-genetic-risk-score-approach
#18
Romain Charmet, Astrid van Hylckama Vlieg, Marine Germain, Ronan Roussel, Michel Marre, Stéphanie Debette, Philippe Amouyel, Jean-François Deleuze, Samy Hadjadj, Frits R Rosendaal, Pierre-Emmanuel Morange, David-Alexandre Trégouët
OBJECTIVE: The association between impaired kidney function and venous thrombosis has been previously reported but supportive data are still sparse. We here wish to strengthen this association by investigating, by use of a genetic risk score approach, whether single nucleotide polymorphisms (SNPs) known to decrease the estimated glomerular filtration rate (eGFR), a surrogate marker for renal dysfunction, are associated with increased risk of venous thrombosis. APPROACH AND RESULTS: Fifty-one polymorphisms selected from the literature to robustly associate with eGFR were first tested for association with venous thrombosis in a French case-control collection of 1953 patients and 2338 healthy individuals...
August 25, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28863787/venous-thromboembolism-and-hyperhomocysteinemia-as-first-manifestation-of-pernicious-anemia-a-case-series
#19
W Ammouri, Z Mezalek Tazi, H Harmouche, M Maamar, M Adnaoui
BACKGROUND: Hyperhomocysteinemia has been suspected of favoring thrombosis. Several case-control studies and even a meta-analysis have confirmed a link between venous thrombosis and hyperhomocysteinemia. Homocysteine is due to genetic and acquired factors (poor diet in folate and vitamin B12, older age, renal impairment, thyroid diseases, and malignancies) induced by the intake and the concentrations of vitamin B9 or B12 in the majority of cases. CASES PRESENTATION: We report the cases of four Moroccan patients who presented with acute vein thrombosis of different sites: a 34-year-old man, a 60-year-old man, a 58-year-old man, and a 47-year-old woman...
September 2, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28827327/sensitized-mutagenesis-screen-in-factor-v-leiden-mice-identifies-thrombosis-suppressor-loci
#20
Randal J Westrick, Kärt Tomberg, Amy E Siebert, Guojing Zhu, Mary E Winn, Sarah L Dobies, Sara L Manning, Marisa A Brake, Audrey C Cleuren, Linzi M Hobbs, Lena M Mishack, Alexander J Johnston, Emilee Kotnik, David R Siemieniak, Jishu Xu, Jun Z Li, Thomas L Saunders, David Ginsburg
Factor V Leiden (F5(L) ) is a common genetic risk factor for venous thromboembolism in humans. We conducted a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for dominant thrombosuppressor genes based on perinatal lethal thrombosis in mice homozygous for F5(L) (F5(L/L) ) and haploinsufficient for tissue factor pathway inhibitor (Tfpi(+/-) ). F8 deficiency enhanced the survival of F5(L/L)Tfpi(+/-) mice, demonstrating that F5(L/L)Tfpi(+/-) lethality is genetically suppressible. ENU-mutagenized F5(L/L) males and F5(L/+)Tfpi(+/-) females were crossed to generate 6,729 progeny, with 98 F5(L/L)Tfpi(+/-) offspring surviving until weaning...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
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