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venous thrombosis genetics

Bozidarka L Zaric, Milan Obradovic, Vladan Bajic, Mohamed A Haidara, Milos Jovanovic, Esma R Isenovic
Homocysteine (Hcy) is thiol group containing the amino acid, which naturally occurs in all humans. Hcy is degraded in the body through two metabolic pathways, while a minor part is excreted through kidneys. The chemical reactions that are necessary for degradation of Hcy require the presence of the folic acid, vitamins B6 and B12. Consequently, the level of the total Hcy in the serum is influenced by the presence or absence of these vitamins. An elevated level of the Hcy, hyperhomocysteinemia (HHcy) and homocystinuria are connected with occlusive artery disease, especially in the brain, the heart, and the kidney, in addition to venous thrombosis, chronic renal failure, megaloblastic anemia, osteoporosis, depression, Alzheimer's disease, pregnancy problems, and others...
March 12, 2018: Current Medicinal Chemistry
Syed Shafia, Mahrukh H Zargar, Nabeela Khan, Rehana Ahmad, Zafar Amin Shah, Ravouf Asimi
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. The mutations were analysed using ARMS-PCR and PCR-RFLP approach. RESULT: The factor V Leiden G1691A mutation was found in 17/250 (6...
February 14, 2018: Gene
Adam H Bauer, Jeff Bonham, Luis Gutierrez, Edward C Hsiao, Daria Motamedi
OBJECTIVE: Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by congenital skeletal deformities and soft tissue masses that progress to heterotopic ossification. Deformities of the great toes are distinctive, and heterotopic ossification in the soft tissues follows an expected anatomic and temporal pattern. In addition to heterotopic ossification, osteochondromata, middle ear ossification, demyelination, lymphedema, and venous thrombosis are characteristic...
February 14, 2018: Skeletal Radiology
Sopio Garakanidze, Elísio Costa, Elsa Bronze-Rocha, Alice Santos-Silva, Giorgi Nikolaishvili, Irina Nakashidze, Nona Kakauridze, Salome Glonti, Rusudan Khukhunaishvili, Marina Koridze, Sarfraz Ahmad
Methylenetetrahydrofolate reductase ( MTHFR) gene polymorphism (C677T)] is a well-recognized genetic risk factor for venous thrombosis; however, its association with arterial thrombosis is still under debate. Herein, we evaluated the prevalence of MTHFR C677T polymorphism in Georgian patients in comparison with healthy individuals and its association with arterial thrombosis. We enrolled 214 participants: 101 with arterial thrombosis (71.3% males; mean age: 66.3 ± 12.1 years) and 113 controls (67.3% males; mean age: 56...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
Yuang-Seng Tsuei, Ying-Erh Chou, Wen-Hsien Chen, Chao-Bao Luo, Shun-Fa Yang
BACKGROUND: Dural arteriovenous fistula (DAVF) is a rare but important cerebrovascular disorder in adults. Little is known about the molecular genetic pathogenesis underlying the development of DAVF. OBJECTIVES: The present study was conducted to investigate the associations of gene polymorphisms and DAVF. MATERIALS AND METHODS: Using real-time polymerase chain reaction (PCR) genotyping, 7 single-nucleotide polymorphisms (SNPs) of angiogenesis-related genes were analyzed in 72 DAVF patients...
February 12, 2018: Journal of Thrombosis and Haemostasis: JTH
Rahul A Sheth, Andrew Niekamp, Keith B Quencer, Fadi Shamoun, Martha-Gracia Knuttinen, Sailendra Naidu, Rahmi Oklu
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. Furthermore, cancer therapies as well as the indwelling vascular devices through which these therapies are delivered can increase the risk for CAT. In this review, we summarize mechanisms of hypercoagulability in cancer patients, patterns of thrombosis associated with cancer, current guidelines for the diagnosis and management of CAT, and important considerations regarding the placement of implantable vascular devices in the care of cancer patients with VTE...
December 2017: Cardiovascular Diagnosis and Therapy
Weijia Xie, Zhenjie Liu, Bing Chen
Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency...
December 2017: Journal of Vascular Surgery Cases and Innovative Techniques
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
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
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
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
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
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
S M Silvis, S Hiltunen, E Lindgren, K Jood, S M Zuurbier, S Middeldorp, J Putaala, S C Cannegieter, T Tatlisumak, J M Coutinho
Essentials The risk of cerebral venous thrombosis (CVT) in patients with cancer is not known. We performed a case-control study including 594 patients with CVT and 6278 controls. History of cancer increased the risk of CVT approximately 5-fold. The association was strongest with hematological cancer in the first year after diagnosis. SUMMARY: 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...
January 2018: Journal of Thrombosis and Haemostasis: JTH
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
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
Amal Ahmed Abd El-Fattah, 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...
January 30, 2018: Gene
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
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...
January 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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
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