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venous thrombosis genetics

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https://www.readbyqxmd.com/read/29742732/recurrent-pulmonary-embolism-associated-with-deep-venous-thrombosis-diagnosed-as-protein-s-deficiency-owing-to-a-novel-mutation-in-pros1-a-case-report
#1
Xiaojie Huang, Fangfang Xu, Carmel Rebecca Assa, Laigen Shen, Bing Chen, Zhenjie Liu
RATIONALE: Protein S (PS) deficiency that can be inherited or acquired is an independent risk factor for venous thromboembolism (VTE). PATIENT CONCERNS: In this report, we present a case of recurrent pulmonary embolism (PE) and deep venous thrombosis (DVT) due to PS deficiency. DIAGNOSES: A 32-year-old male patient with significant decrease in PS activity was detected by laboratory tests. Genetic examination of the PROS1 gene showed a transition of G to T in exon 14 (c...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29737537/genetic-polymorphisms-in-the-fvii-gene-is-associated-with-lower-extremity-deep-venous-thrombosis-a-case-control-study
#2
Jian-Wei Liu, Dong-Qiong Chen
This study aims to explore the associations between FVII gene polymorphisms (R353Q, 5'F7, and -402G/A) and lower extremity deep venous thrombosis (LEDVT) in a Chinese Han population. LEDVT patients (153) and healthy people (174) were, respectively, as case and control groups and evaluated related biochemical indicators. Gene polymorphisms of R353Q, 5'F7, and -402G/A of FVII, serum FVII level, antithrombin activity, plasma fibrinogen content, and plasma D-dimer (D-D) level were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), ELISA, chromogenic substrate assay, coagulating assay, and Immunoturbidimetry assay, respectively...
May 8, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29703700/improved-patency-of-eptfe-grafts-as-a-hemodialysis-access-site-by-seeding-autologous-endothelial-cells-expressing-fibulin-5-and-vegf
#3
Itai Tzchori, Mizied Falah, Denis Shteynberg, Dana Levin Ashkenazi, Zeev Loberman, Luba Perry, Moshe Y Flugelman
Small caliber synthetic vascular grafts used for dialysis access sites have high failure rates due to neointima formation and thrombosis. Seeding synthetic grafts with endothelial cells (ECs) provides a biocompatible surface that may prevent graft failure. We tested the use of ePTFE grafts seeded with autologous ECs expressing fibulin-5 and vascular endothelial growth factor (VEGF), as a dialysis access site in a porcine model. We connected the carotid arteries and jugular veins of 12 miniature pigs using 7-mm ePTFE grafts; five grafts were seeded with autologous venous ECs modified to express fibulin-5 and VEGF, and seven unseeded grafts were implanted at the same location and served as controls...
April 5, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29668537/cerebral-sinus-venous-thrombosis-and-prothrombotic-risk-factors-in-children-a-single-center-experience-from-turkey
#4
Alper Ozcan, Mehmet Canpolat, Selim Doganay, Ekrem Unal, Musa Karakukcu, Mehmet A Ozdemir, Turkan Patiroglu
BACKGROUND: Cerebral sinus venous thrombosis (CSVT) is a rare cerebrovascular disease that may be life-threatening, especially in children. OBJECTIVE: The purpose of this study was to assess the clinical presentation, radiologic imaging, underlying conditions, treatment, and outcomes of children with CSVT. PATIENTS AND METHODS: In total, 23 consecutive children aged between 1 month to 18 years with CSVT, who were followed-up in Erciyes University Children's Hospital, were retrospectively enrolled in the study from January 2000 to December 2016...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29588512/multivariable-clinical-genetic-risk-model-for-predicting-venous-thromboembolic-events-in-patients-with-cancer
#5
Andrés J Muñoz Martín, Israel Ortega, Carme Font, Vanesa Pachón, Victoria Castellón, Virginia Martínez-Marín, Mercedes Salgado, Eva Martínez, Julia Calzas, Ana Rupérez, Juan C Souto, Miguel Martín, Eduardo Salas, Jose M Soria
BACKGROUND: Venous thromboembolism (VTE) is a leading cause of death among patients with cancer. Outpatients with cancer should be periodically assessed for VTE risk, for which the Khorana score is commonly recommended. However, it has been questioned whether this tool is sufficiently accurate at identifying patients who should receive thromboprophylaxis. The present work proposes a new index, TiC-Onco risk score to be calculated at the time of diagnosis of cancer, that examines patients' clinical and genetic risk factors for thrombosis...
March 28, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29587641/the-prevalence-of-heterozygous-f12-mutations-in-chinese-population-and-its-relevance-to-incidents-of-thrombosis
#6
Xi Wu, Qiulan Ding, Xuefeng Wang, Jing Dai, Wenman Wu
BACKGROUND: The contribution of moderate coagulation factor XII (FXII) deficiency to development of thromboembolism is still undetermined. We have tried to show the relevance of FXII deficiency to incidences of venous thrombosis by exploring the prevalence of F12 gene mutations in Chinese patients with thrombotic disorders. METHODS: One hundred and six patients with venous thromboembolism (VTE) and 220 healthy controls were enrolled in study. The coding region and flanking sequences of F12 gene were amplified and sequenced to identify genetic variances...
March 27, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29532755/homocysteine-and-hyperhomocysteinaemia
#7
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
https://www.readbyqxmd.com/read/29454086/high-prevalence-of-factor-v-leiden-and-prothrombin-g20101a-mutations-in-kashmiri-patients-with-venous-thromboembolism
#8
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...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29445932/fibrodysplasia-ossificans-progressiva-a-current-review-of-imaging-findings
#9
REVIEW
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
https://www.readbyqxmd.com/read/29439641/methylenetetrahydrofolate-reductase-gene-polymorphism-c677t-as-a-risk-factor-for-arterial-thrombosis-in-georgian-patients
#10
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
https://www.readbyqxmd.com/read/29431912/polymorphism-in-dural-arteriovenous-fistula-matrix-metalloproteinase-2-1306-c-t-as-a-potential-risk-factor-for-sinus-thrombosis
#11
Y-S Tsuei, Y-E Chou, W-H Chen, C-B Luo, S-F Yang
Essentials Sinus thrombosis may play a crucial role in development of dural arteriovenous fistula (DAVF). Little is known about the association between gene polymorphism and the development of DAVF. MMP-2-1306 C/T showed a higher prevalence rate in DAVF cases with sinus thrombosis. MMP-2-1306C/T polymorphism is likely a potential risk factor for sinus thrombosis in DAVF. SUMMARY: Background Dural arteriovenous fistula (DAVF) is a rare but important cerebrovascular disorder in adults. Little is known about the molecular genetic pathogenesis underlying DAVF development...
April 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29399521/thrombosis-in-cancer-patients-etiology-incidence-and-management
#12
REVIEW
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
https://www.readbyqxmd.com/read/29349439/protein-c-deficiency-resulting-from-two-mutations-in-proc-presenting-with-recurrent-venous-thromboembolism
#13
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
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
#14
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
#15
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...
February 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
#16
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
#17
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
#18
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
#19
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
#20
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
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