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"Factor v leiden"

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https://www.readbyqxmd.com/read/28740966/portal-vein-thrombosis-as-a-rare-cause-of-abdominal-pain-when-to-consider
#1
Cengiz Tavusbay, Erdinç Kamer, Turan Acar, İbrahim Kokulu, Haldun Kar, Özlem Gür
Extrahepatic portal vein thrombosis (PVT) is a rare condition that is characterized by the presence of thrombus within any segment of the portal vein, including the right and left intrahepatic branches. It may also extend to the splenic or superior mesenteric veins. Portal vein thrombosis may be related to cirrhosis or liver malignancy as well as to local inflammatory conditions in the abdomen and genetic or acquired thrombophilic diseases. Currently, PVT is being increasingly diagnosed due to advances in modern imaging techniques...
2017: Turk J Surg
https://www.readbyqxmd.com/read/28720694/myocardial-infarction-masquerading-as-myocarditis-in-a-patient-with-factor-v-leiden-unmasked-with-mr
#2
Jason Leo Walsh, Benjamin Howell Lole Harris, Walid Gharzuddine, Hussain Isma'eel
We present a case of a 21-year-old man presenting with sharp left-sided chest pain. A CT pulmonary angiogram was negative, ECG was unremarkable and a mild troponin rise was observed. Myocarditis was suspected as the most likely diagnosis, particularly in view of the patient's previous diagnosis of myocarditis 3 years prior. A cardiac MRI was indicative of an acute mid-anterior myocardial infarction (MI) and an old inferior MI with an associated aneurysm. A subsequent angiogram revealed a subtotal occlusion in the second diagonal artery, likely precipitated by homozygous factor V Leiden...
July 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28717431/polymorphisms-at-activated-protein-c-cleavage-sites-of-factor-v-are-they-important-in-the-absence-of-factor-v-leiden
#3
Ehsan Kheradmand, Shaghayegh Haghjooy-Javanmard, Leila Dehghani, Mohammad Saadatnia
Background: Activated protein C (APC) inactivates factor V (FV) by cleavage of its heavy chain at Arg306, Arg506, Arg679, and Lys994. Mutational changes, which abolish APC cleavage sites, may predispose thrombosis by altering the inactivation process of FV. FV Leiden (FVL) (Arg506Glu) has been demonstrated as a strong risk factor for thrombosis. In the current study, we have studied whether mutations in the cleavage sites of FV for APC, not due to FVL, would have a role in presenting APC resistance (APCR) and initiation of a cerebral thrombotic event...
January 5, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/28711293/a-genetic-study-of-factor-v-leiden-g1691a-mutation-in-young-ischemic-strokes-with-large-vessel-disease-in-a-south-indian-population
#4
Ravi Anadure, Rita Christopher, Dindagur Nagaraja, Coimbatore Narayanan
Factor V Leiden (FVL) has been, by far, the most investigated gene mutation, with 26 studies to date, on its role in arterial strokes. Overall, a meta-analysis of all these studies taken together showed that carriers of the Factor V Leiden allele were 1.33times more likely to develop arterial strokes when compared to controls. We subjected a highly select subset of young strokes, with large vessel infarcts, to genetic analysis for FVL mutation and compared them with matched healthy controls to look for a statistically significant association...
July 12, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28684050/thrombophilic-and-cardiovascular-risk-factors-for-retinal-vein-occlusion
#5
Paolo Bucciarelli, Serena M Passamonti, Francesca Gianniello, Andrea Artoni, Ida Martinelli
BACKGROUND: The role of thrombophilic and cardiovascular risk factors in different manifestations of retinal vein occlusion (RVO), i.e., central or branch RVO, and at different ages is still debated. AIMS: To evaluate the association between thrombophilic and cardiovascular risk factors and the risk of RVO (overall, separately for central and branch RVO, and at different ages). METHODS: Case-control study on 313 patients with a first objectively-confirmed RVO (216 central and 97 branch RVO) and 415 healthy individuals...
July 3, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28670948/double-versus-single-thrombophilias-during-pregnancy
#6
Rachel Carroll, Andrei Rebarber, Whitney Booker, Nathan Fox, Daniel Saltzman, Jennifer Lam-Rachlin, Simi Gupta
OBJECTIVE: The primary objective of this study was to evaluate whether women with double thrombophilias have a greater risk for obstetric complications as compared with women who have single thrombophilias. STUDY DESIGN: This is a retrospective cohort study of all patients in a single practice with a clinically significant inherited thrombophilia and treated with anticoagulation between 2005 and 2013. Thrombophilias evaluated include: factor V Leiden, prothrombin G20210A gene mutation, protein S deficiency, protein C deficiency, and antithrombin III deficiency...
July 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28658842/a-case-series-of-young-patients-with-completely-reversed-severe-pulmonary-hypertension
#7
Aniketh Vijay Balegadde, Vikrant Vijan, Rajesh Thachathodiyl
Pulmonary Arterial Hypertension (PAH) is a progressive symptomatic disorder, which may ultimately lead to death if left untreated. Although majority of PAH cases are idiopathic, pulmonary hypertension resulting due to certain underlying conditions are also observed frequently. In such cases, it becomes essential to identify any potentially treatable or reversible causes for PAH. There have been significant advances in the medical management of PAH and various medicines have been approved by US Food and Drug Administration (FDA) for various stages of PAH...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28649568/a-prothrombotic-score-based-on-genetic-polymorphisms-of-the-hemostatic-system-differs-in-patients-with-ischemic-stroke-myocardial-infarction-or-peripheral-arterial-occlusive-disease
#8
Juliane Herm, Berthold Hoppe, Bob Siegerink, Christian H Nolte, Jürgen Koscielny, Karl Georg Haeusler
BACKGROUND: While twin studies indicate a genetic component in arterial thrombosis such as ischemic stroke, myocardial infarction (MI), or peripheral arterial occlusive disease (PAOD), the clinical relevance of hemostatic polymorphisms in arterial thrombosis is a matter of debate. METHODS: We analyzed the prevalence of 13 hemostatic polymorphisms [PAI-1, PLAT, F5 (including factor V Leiden and HR2 haplotype), F2, F7, F13A, FGB, TFPI, THBD, MTHFR, ACE, and ITGA2] in patients referred to a tertiary referral center...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28640000/panton-valentine-leukocidin-producing-staphylococcus-aureus-facial-pyomyositis-causing-partial-cavernous-sinus-thrombosis
#9
Katherine Green, Ioanna Chranioti, Saurabh Singh, Hans Rolf Jäger, Anje Drebes, Susie Gabbie, Jonathan Cohen
We present a case of sub-total cavernous sinus thrombosis secondary to Panton-Valentine leucocidin-associated Staphylococcus aureus pyomyositis of the muscles of mastication in a previously healthy child, who was successfully managed with no residual disease. He was found to have a factor V Leiden heterozygous mutation. We highlight the propensity of PVL-SA to induce venous thrombosis at any site, but with potential for more severe consequences in the head. We highlight pyomyositis as a differential for peri-orbital cellulitis, and discuss the significance of the factor V Leiden mutation...
June 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28627093/characterization-of-thrombosis-in-patients-with-proteus-syndrome
#10
Kim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, Leslie G Biesecker
Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28606797/do-factor-v-leiden-and-prothrombin-g20210a-mutations-predict-recurrent-venous-thromboembolism-in-older-patients
#11
Marie Méan, Andreas Limacher, Odile Stalder, Anne Angelillo-Scherrer, Lorenzo Alberio, Pierre Fontana, Hans-Jürg Beer, Nicolas Rodondi, Bernhard Lämmle, Drahomir Aujesky
BACKGROUND: The value of genetic thrombophilia testing in elderly patients with an unprovoked venous thromboembolism is unclear. We assessed whether the factor V Leiden and the prothrombin G20210A mutation are associated with recurrent venous thromboembolism in elderly patients in a prospective multicenter cohort study. METHODS: We genotyped the factor V Leiden and the prothrombin G20210A mutation in 354 consecutive in- and outpatients aged ≥65 years with a first unprovoked venous thromboembolism from nine Swiss hospitals...
June 9, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28600052/does-exist-a-correlation-between-endometriosis-and-thrombophilic-disorders-a-pilot-study
#12
Roberto Paradisi, Giulia Ferrini, Carlotta Matteucci, Chiara Facchini, Letizia Zannoni, Renato Seracchioli
OBJECTIVE: At present, there is growing evidence of the existence of a genetic predisposition in both thrombophilic disorders and endometriosis. The aim of our study was to evaluate for the first time the prevalence of some thrombophilic disorders in patients with endometriosis. MATERIALS AND METHODS: We conducted a retrospective study on 138 patients with endometriosis and 278 healthy control women. All women were subjected to a blood examination testing for thrombophilic screening and the variables examinated were: hyperhomocysteinemia, factor V Leiden and factor II prothrombin G20210A mutations in heterozygosis and homozigosis...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28583818/a-multicenter-study-of-1144-patients-with-cerebral-venous-thrombosis-the-venost-study
#13
Taskin Duman, Derya Uluduz, Ipek Midi, Hesna Bektas, Yuksel Kablan, Basak K Goksel, Aysel Milanlioglu, Dilek Necioglu Orken, Ufuk Aluclu
BACKGROUND: Based on a number of small observational studies, cerebral venous sinus thrombosis has diverse clinical and imaging features, risk factors, and variable outcome. In a large, multicenter cerebral venous thrombosis (VENOST) study, we sought to more precisely characterize the clinical characteristics of Caucasian patients. METHODS: All data for the VENOST study were collected between the years 2000 and 2015 from the clinical follow-up files. Clinical and radiological characteristics, risk factors, and outcomes were compared in terms of age and sex distribution...
June 2, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28580443/reduced-prothrombinase-inhibition-by-tissue-factor-pathway-inhibitor-contributes-to-the-factor-v-leiden-hypercoagulable-state
#14
Jeremy P Wood, Lisa M Baumann Kreuziger, Paul E R Ellery, Susan A Maroney, Alan E Mast
Activated factor V (FVa) and factor X (FXa) form prothrombinase, which converts prothrombin to thrombin. The α isoform of tissue factor (TF) pathway inhibitor (TFPI) dampens early procoagulant events, partly by interacting with FV. FV Leiden (FVL) is the most common genetic thrombophilia in Caucasians. Thrombosis risk is particularly elevated in women with FVL taking oral contraceptives, which produce acquired TFPIα deficiency. In mice, FVL combined with 50% reduction in TFPI causes severe thrombosis and perinatal lethality...
February 14, 2017: Blood Advances
https://www.readbyqxmd.com/read/28559287/occult-myeloproliferative-neoplasms-not-so-occult-any-more
#15
Dhauna Karam, Veena Iyer, Bharat Agrawal
Non-cirrhotic, non-malignant portal vein thrombosis (PVT) is commonly secondary to inherited or acquired prothrombotic states. However, even after extensive workup, 25% of patients with PVT have no apparent prothrombotic aetiology identified (idiopathic PVT). Inherited conditions include factor V Leiden, PT mutation and protein C/S/AT deficiency. Acquired conditions include APS, PNH and BCR-ABL 1-negative myeloproliferative neoplasms (MPN). BCR-ABL-1 negative MPNs are the most frequent underlying prothrombotic risk factor for PVT (15%-30%)...
May 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28544373/genetic-markers-for-inherited-thrombophilia-are-associated-with-fetal-growth-retardation-in-the-population-of-central-russia
#16
Evgeny Reshetnikov, Oksana Zarudskaya, Alexey Polonikov, Olga Bushueva, Valentina Orlova, Evgeny Krikun, Volodymyr Dvornyk, Mikhail Churnosov
AIM: The aim of this study was to examine the role of hereditary thrombophilia in the development of fetal growth retardation (FGR) in the population of Central Russia. METHODS: The case-control study sample included 497 women in the third trimester of pregnancy recruited during 2009-2013. The participants were enrolled into two groups: patients with FGR (n = 250) and controls without FGR (n = 247). The participants were genotyped for four genetic markers of hereditary thrombophilia: factor V Leiden (G > A FV, rs6025), prothrombin (G > A FII, rs1799963), factor VII (G > A FVII, rs6046), and fibrinogen (G > A FI, rs1800790)...
May 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28536112/necrotic-cutaneous-vasculitic-skin-lesions-a-case-of-atypical-henoch-sch%C3%A3-nlein-purpura-in-a-child-with-heterozygosity-for-factor-v-leiden
#17
Sacha Dhanjal, Anja Saso, Despina Eleftheriou, Sue Laurent
No abstract text is available yet for this article.
May 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28525397/an-unusual-case-of-sudden-death-is-there-a-relationship-between-thyroid-disorders-and-fatal-pulmonary-thromboembolism-a-case-report-and-review-of-literature
#18
Isabella Aquila, Silvia Boca, Fiorella Caputo, Matteo A Sacco, Santo Gratteri, Vittorio Fineschi, Pietrantonio Ricci
In adults, the most common cause of sudden death is coronary heart disease or defects in the cardiac conduction system; however, there are many cases of sudden death occurring from other causes such as fatal pulmonary thromboembolism. Several risk factors are recognized, including hospitalization, surgery, obesity, pregnancy, the use of oral contraceptives, traumatic fractures, and genetic conditions, which cause hypercoagulable states such as factor V Leiden mutations. Although many risk factors have been identified, the mortality rate is still high...
May 19, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28512209/venous-hypertensive-encephalopathy-secondary-to-venous-sinus-thrombosis-and-dural-arteriovenous-fistula
#19
Pria Anand, Emanuele Orru, Izlem Izbudak, Jiaying Zhang, Amir Kheradmand
A 52-year-old man with a history of factor V Leiden thrombophilia, persistent headaches and papilloedema presented with worsening vision and confusion. MRI and MR angiography of the brain at the time of this presentation showed findings concerning for transverse sinus thrombosis and an associated dural arteriovenous fistula. Dural venous sinus thrombosis can lead to the formation of a dural arteriovenous fistula, which must be considered in the differential diagnosis for intracranial hypertension in patients with thrombophilia...
August 2017: Practical Neurology
https://www.readbyqxmd.com/read/28501666/an-unexpectedly-high-rate-of-thrombophilia-disorders-in-patients-with-superficial-vein-thrombosis-of-the-lower-extremities
#20
Marcone Lima Sobreira, Silvia Regina Rogatto, Rodrigo Mattos Dos Santos, Izolete Thomazini Santos, Iracema Carvalho Ferrari, Winston Bonetti Yoshida
BACKGROUND: Superficial vein thrombosis is a common venous condition. Recent studies have shown that SVT is associated with high frequency of thromboembolic complications: from 22 to 37 % for deep venous thrombosis and up to 33% for pulmonary embolism. OBJECTIVES: To assess the prevalence of major hereditary and acquired thrombophilic factors in patients with SVT. PATIENTS AND METHODS: 66 patients presenting with primary ST underwent evaluation for thrombophilia: molecular testing for the factor V Leiden and factor II G20210A (prothrombin) mutations, protein C, protein S, antithrombin deficiency, presence of lupus anticoagulant, as well as anti-cardiolipin antibody titers...
May 10, 2017: Annals of Vascular Surgery
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