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https://www.readbyqxmd.com/read/29454086/high-prevalence-of-factor-v-leiden-and-prothrombin-g20101a-mutations-in-kashmiri-patients-with-venous-thromboembolism
#1
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
https://www.readbyqxmd.com/read/29435277/methylenetetrahydrofolate-reductase-gene-c677t-and-a1298c-polymorphisms-and-susceptibility-to-recurrent-pregnancy-loss
#2
Domenico Dell'Edera, Antonella L'Episcopia, Francesca Simone, Maria Giovanna Lupo, Annunziata Anna Epifania, Arianna Allegretti
Several studies have investigated the link between two different polymorphisms (C677T and A1298T) of the gene encoding methylenetetrahydrofolate reductase (MTHFR) and the risk of recurrent pregnancy loss (RPL); however, the results remain controversial. This study aimed to provide greater insight into this debated topic. In the current study, two groups of pregnant women (group A: RPL women; group B: non-RPL women), each of which were subdivided further into two subgroups based on their gestational age, were screened for C677T and A1298T variants of the MTHFR gene...
February 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29407626/laboratory-biomarkers-for-venous-thromboembolism-risk-in-patients-with-hematologic-malignancies-a-review
#3
REVIEW
B T Samuelson Bannow, B A Konkle
INTRODUCTION: Despite high rates of venous thromboembolism (VTE) among patients with hematologic malignancies, few tools exist to assist providers in identifying those patients at highest risk for this potentially fatal complication. Laboratory biomarkers, such as d-dimer, have demonstrated utility in some clinical settings to distinguish patients at increased risk. MATERIALS AND METHODS: We performed a systematic review of the literature utilizing search terms including "biomarker", "venous thromboembolism", "hematologic malignancy", "lymphoma", "myeloma" and "leukemia" in the Medline database...
January 31, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29402471/direct-oral-anticoagulant-use-in-patients-with-thrombophilia-antiphospholipid-syndrome-or-venous-thrombosis-of-unusual-sites-a-narrative-review
#4
REVIEW
Laurent Bertoletti, Ygal Benhamou, Yannick Béjot, Sylvestre Marechaux, Saida Cheggour, Boris Aleil, Nicolas Lellouche, Jean-Guillaume Dillinger, Aurélien Delluc
Direct oral anticoagulants (DOACs) are indicated in the treatment and prevention of venous thromboembolism (VTE). However, the use of DOACs in unusual VTE, including cerebral venous thrombosis (CVT) and splanchnic venous thrombosis (SVT), and in patients with biological thrombophilia including minor thrombophilia (Factor V Leiden and prothrombin G20210A), major innate thrombophilia (protein C and S deficiency, and antithrombin) and major acquired thrombophilia (antiphospholipid syndrome [APS]), remains controversial due to the paucity of available data...
February 2, 2018: Blood Reviews
https://www.readbyqxmd.com/read/29372092/intravenous-remifentanil-analgaesia-for-an-obstetric-patient-with-type-i-neurofibromatosis-and-a-factor-v-leiden-mutation
#5
José L Gálvez, Carlos L Errando, Silvia Serrano, Marga Martín-Ayuso, José M Valverde-Mantecón
Type I neurofibromatosis is characterised by altered skin pigmentation and the growth of benign tumours, particularly along the peripheral nerves and central nervous system. We report a 36-year-old primigravida woman in labour who was admitted to the obstetric suite of the Hospital Sant Joan de Déu, Barcelona, Spain, in 2007 with hypothyroidism, type I neurofibromatosis and a factor V Leiden mutation. Due to a lack of cranial and spinal imaging data, an epidural was not indicated; instead, continuous intravenous remifentanil analgaesia was administered...
November 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29372059/factor-v-leiden-g1691a-and-prothrombin-g20210a-mutations-among-palestinian-patients-with-sickle-cell-disease
#6
Fekri Samarah, Mahmoud A Srour
Background: Vascular thrombosis is an important pathophysiological aspect of sickle cell disease (SCD). This study aimed to investigate the prevalence and clinical impact of factor V Leiden G1691A (FVL) and prothrombin G20210A mutations among Palestinian sickle cell disease (SCD) patients. Methods: A total of 117 SCD patients, including 59 patients with sickle cell anemia (SS), 33 patients with sickle β-thalassemia and 25 individuals with sickle cell trait (AS) were studied...
2018: BMC Hematology
https://www.readbyqxmd.com/read/29369598/a-case-of-hereditary-thrombophilia-in-a-chinese-han-patient-with-both-antithrombin-deficiency-and-factor-v-leiden-a-case-report-and-literature-review
#7
(no author information available yet)
Hereditary thrombophilia is a blood coagulation disorder that increases the risk of venous thromboembolism, due to several genetic risk factors. Factor V Leiden(FVL) is the most common contributing factor to thrombophilia in the Caucasian population but very rare in Asian population and concurrent occurrence of antithrombin(AT) deficiency and FVL in Chinese Han population is even more rare. We report the case of a 22-year-old female who experienced recurrent intracranial venous thromboses, furthermore, color Doppler ultrasound showed multiple extracranial thromboses...
December 25, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29367870/epstein-barr-virus-related-cutaneous-necrotizing-vasculitis-in-a-girl-heterozygous-for-factor-v-leiden
#8
Cristina Guerriero, Gaia Moretta, Giulia Bersani, Piero Valentini, Antonio Gatto, Donato Rigante
Background: Necrotizing vasculitides are basically characterized by vessel wall neutrophil infiltration and necrosis and they can occur as a primary process or secondary to an underlying disease. Although Henoch-Schönlein purpura (HSp) is the more frequent primary vasculitis in childhood, sometimes it has to be distinguished from other secondary vasculitides induced by infections, drugs, vaccines, or immune-mediated disorders. Main observations: We report a case of a 14-year-old girl with cutaneous necrotizing vasculitis, appearing in the course of acute Epstein-Barr virus infection...
December 1, 2017: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/29320959/factor-v-leiden-paradox-in-a-middle-aged-swedish-population-a-prospective-study
#9
Bengt Zöller, Olle Melander, Peter J Svensson, Gunnar Engström
Few prospective studies have examined the factor V paradox: factor V Leiden (FVL) is a stronger risk factor for deep venous thrombosis (DVT) than for pulmonary embolism (PE). The present study, to the best of our knowledge, is the first population-based study aimed to examine the relationship between FVL and incidence of venous thromboembolism (VTE), DVT and PE in a prospective cohort study of middle-aged Swedish individuals. FVL was determined in 4890 subjects (aged 46-68 years, 57% women) from the general population without previous VTE or cancer, who participated in the Malmö Diet and Cancer study between 1991 and 1994...
January 1, 2018: Vascular Medicine
https://www.readbyqxmd.com/read/29308659/thrombophilia-associated-factors-in-patients-with-spontaneous-osteonecrosis-of-the-knee
#10
Niv Marom, Jonathan Ej Koch, Yiftah Beer, Martin Ellis, Gil Ganot, Meir Nyska, Guy Maoz, Iftach Hetsroni
Objective To test whether patients with spontaneous osteonecrosis of the knee (SONK) are characterized by abnormal levels of thrombophilia-associated factors. Design Twenty-five patients with SONK were recruited. Inclusion criteria were (1) age >40 years, (2) acute onset knee pain not precipitated by trauma, and (3) MRI findings consistent with SONK. Exclusion criteria were (1) history of cancer and chemotherapy and (2) factors associated with secondary osteonecrosis. Blood tests included 13 thrombophilia-associated factors that were either heritable mutations or acquired factors...
January 1, 2018: Cartilage
https://www.readbyqxmd.com/read/29296762/whole-exome-sequencing-in-evaluation-of-patients-with-venous-thromboembolism
#11
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/29248890/thromboembolismpeaking-3-months-after-starting-testosterone-therapy-testosterone-thrombophilia-interactions
#12
Charles J Glueck, Naila Goldenberg, Ping Wang
We assessed time of thrombotic events (venous thromboembolism (VTE)) after starting testosterone therapy (TT) in 21 men who sustained 23 VTE. The density of thrombotic events was greatest at 3 months after starting TT, with a rapid decline in events by 10 months. The 21 cases with VTE on TT differed from 110 patient controls with unprovoked VTE, not taking TT (VTE-no TT) for Factor V Leiden heterozygosity (FVL) (33 per cent vs 13 per cent, P=0.037), for high lipoprotein (a) (Lp(a)) (55 per cent vs 17 per cent, P=0...
December 15, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/29238798/association-between-hypercoagulable-conditions-and-calciphylaxis-in-patients-with-renal-disease-a-case-control-study
#13
Allison S Dobry, Lauren N Ko, Jessica St John, J Mark Sloan, Sagar Nigwekar, Daniela Kroshinsky
Importance: Calciphylaxis is a rare skin disease with high morbidity and mortality that frequently affects patients with renal disease. Hypercoagulable conditions are frequently observed in both patients with calciphylaxis and those with chronic kidney disease (CKD), complicating our understanding of which hypercoagulable conditions are specific to calciphylaxis. Objective: To identify hypercoagulable conditions that are risk factors for developing calciphylaxis while controlling for CKD...
December 13, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29226645/thrombophilic-mutations-among-patients-with-sickle-cell-disease
#14
Rim B Nefissi, Faida Ouali, Taieb Massaoud, Nasreddine Gritli
BACKGROUND: Factor V-Leiden (FVL), Prothrombin (PRT) G20210A, and Methylene Tetrahydro Folate Reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications. Our aim in this study was to investigate the prevalence of these mutations among Tunisian sickle cell patients. METHODS: Study subjects comprised 64 patients and 100 healthy controls. FVL, PRT G20210A, and MTHFR genotypes were determined using a reverse dot blot based method...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29207759/combined-thrombophilia-in-a-young-male-presenting-as-life-threatening-pulmonary-embolism
#15
Akshyaya Pradhan, Ayush Shukla, Mili Jain, Anupam Mehrotra, Rishi Sethi
Combined hereditary thrombophilia is an uncommon entity associated with higher risk of early onset thrombosis. We report a case of 39-year-old male with combined deficiency of natural anticoagulants (protein C, S and anti thrombin) along with hyper homocystenemia and factor V Leiden mutation, presenting with life threatening bilateral pulmonary embolism. The clinical implications of combined thrombophilia are also discussed.
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29194315/hereditary-thrombophilia-in-trauma-patients-with-venous-thromboembolism-is-routine-screening-necessary
#16
Kathleen A Cannon, Jayraan Badiee, Jason B Brill, Erik J Olson, Michael J Sise, Vishal Bansal, C Beth Sise, Steven R Shackford
BACKGROUND: Venous thromboembolism (VTE), including deep venous thrombosis (DVT) and pulmonary embolism (PE), remains a common complication following trauma. The role of hereditary thrombophilia (HT) in post-traumatic VTE is unknown. In the general population with a first-time DVT, Factor V Leiden (FVL) and prothrombin G20210A mutation (PGM) are the most common types of HT with an incidence of 20-25% and 6-18%, respectively. The objective of this study was to identify the incidence of FVL and PGM in post-traumatic VTE to determine whether routine screening for HT in trauma should be performed...
November 21, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/29194072/prenatal-thrombosis-of-renal-veins-and-the-inferior-vena-cava-in-a-newborn-with-double-heterozygosity-for-the-factor-v-leiden-and-prothrombin-gene-g20210a-mutations-a-case-report
#17
Ozgul Bulut, Zeynep Ince, Ozan Uzunhan, Asuman Coban
: Renal vein thrombosis in a neonate is a rare but well recognized condition with low mortality but high morbidity. The cause has not been explained clearly yet but is probably a multifactorial process that includes inherited prothrombotic abnormalities. Antenatal onset of renal vein thrombosis is important due to the increased risk for permanent organ damage. We report a case of prenatal thrombosis of the renal veins and the inferior vena cava in a newborn with double heterozygosity for factor V Leiden and prothrombin gene mutations who had persistently impaired renal function requiring chronic peritoneal dialysis...
November 30, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29179580/association-of-fv-g1691a-polymorphism-but-not-a4070g-with-coronary-artery-disease
#18
Ahmed Amara, Meriem Mrad, Aicha Sayeh, Abdeddayem Haggui, Dhaker Lahideb, Najiba Fekih-Mrissa, Habib Haouala, Brahim Nsiri
Coronary artery disease (CAD) is one of the chief causes of death in the world. Several hypotheses have been promoted as for the origin of the disease, among which are genetic predispositions and/or environmental factors. The aim of this study was to determine the effect of factor V (FV) gene polymorphisms (Leiden, G1691A [FVL] and HR2 A4070G) and to analyze their association with traditional risk factors in assessing the risk of CAD. Our study population included 200 Tunisian patients with symptomatic CAD and a control group of 300 participants matched for age and sex...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29162399/laboratory-assessment-of-activated-protein-c-resistance-factor-v-leiden-and-performance-characteristics-of-a-new-quantitative-assay
#19
REVIEW
Jean Amiral, Anne Marie Vissac, Jerard Seghatchian
Activated Protein C Resistance is mainly associated to a factor V mutation (RQ506), which induces a deficient inactivation of activated factor V by activated protein C, and is associated to an increased risk of venous and arterial thrombosis in affected individuals, caused by the prolonged activated factor V survival. Its prevalence is mainly in Caucasians (about 5%), and this mutation is absent in Africans and Asians. Presence of Factor V-Leiden is usually evidenced with clotting methods, using a two-step APTT assay performed without or with APC: prolongation of blood coagulation time is decreased if this factor is present...
November 14, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29150108/economy-class-syndrome-what-is-it-and-who-are-the-individuals-at-risk
#20
Luci Maria SantAna Dusse, Marcos Vinícius Ferreira Silva, Letícia Gonçalves Freitas, Milena Soriano Marcolino, Maria das Graças Carvalho
The term 'economy class syndrome' refers to the occurrence of thrombotic events during long-haul flights that mainly occur in passengers in the economy class of the aircraft. This syndrome results from several factors related to the aircraft cabin (immobilization, hypobaric hypoxia and low humidity) and the passenger (body mass index, thrombophilia, oral contraceptives or hormone replacement therapy, cancer), acting together to predispose to excessive blood coagulation, which can result in venous thromboembolism...
October 2017: Revista Brasileira de Hematologia e Hemoterapia
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