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https://www.readbyqxmd.com/read/28804824/laboratory-testing-for-activated-protein-c-resistance-apcr
#1
Soma Mohammed, Emmanuel J Favaloro
Activated protein C resistance (APCR) describes a hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). This results in an increased risk of venous thrombosis, including deep vein thrombosis and pulmonary embolism. Protein C is a natural anticoagulant that is synthesized in the liver and is activated to APC via proteolysis. APC then degrades Factors Va and VIIIa. APCR describes the reduced inability of APC to cleave Factors Va and VIIIa, which therefore promotes increased thrombin generation and potentially leads to a prothrombotic state...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804823/an-overview-of-thrombophilia-and-associated-laboratory-testing
#2
Martina Montagnana, Giuseppe Lippi, Elisa Danese
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28801724/pneumococcal-meningitis-and-endocarditis-in-an-infant-possible-improved-survival-with-factor-v-leiden-mutation
#3
Sitikant Mohapatra, Assaf Doulah, Elspeth Brown
Streptococcus pneumoniae infections continue to remain associated with high morbidity and mortality. Although the incidence of invasive meningeal and/or lung disease are not uncommon, Streptococcus pneumoniae endocarditis is rare especially in healthy pediatric population. New studies have suggested a strong association between factor V leiden (FVL) mutation and favorable outcomes in critically ill children. A healthy 10 month old presented with sepsis and meningeal signs, was later confirmed to have Streptococcus pneumoniae meningitis and endocarditis...
August 12, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28795204/-entitlement-to-prophylactic-treatment-in-cases-of-genetic-predisposition-for-breast-cancer-interdisciplinary-perspectives
#4
REVIEW
Friedhelm Meier, Jens Ried, Anke Harney, Kerstin Rhiem, Silke Neusser, Anja Neumann, Jürgen Wasem, Rita Schmutzler, Stefan Huster, Peter Dabrock
Genetic tests can detect the predisposition to various diseases. The demand for gene diagnostics and corresponding prophylactic measures is increasing steadily. In the German healthcare system, however, legal uncertainties exist as to whether a mere risk of disease is reason enough to bear the costs for prophylactic measures. When medically effective prophylactic measures are available in certain cancer diseases, such as in hereditary breast cancer, the current practice of deciding in individual cases appears to be insufficient...
August 9, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28792912/adverse-pregnancy-outcomes-and-inherited-thrombophilia
#5
Dominik Dłuski, Radzisław Mierzyński, Elżbieta Poniedziałek-Czajkowska, Bożena Leszczyńska-Gorzelak
AIM: (1) To evaluate the prevalence of inherited thrombophilia in pregnant women with adverse pregnancy outcomes: intrauterine growth retardation (IUGR), preeclampsia (PE) and placental abruption. (2) To assess the impact of inherited thrombophilia on the nature of obstetric complications. (3) To assess levels of protein S, protein C, antithrombin III and homocysteine in pregnant women with adverse pregnancy outcomes. SUBJECTS AND METHODS: The study comprised 162 pregnant women...
August 9, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28781853/unexpected-papilledema-in-a-young-male-with-type-1-diabetes
#6
Juan A Paniagua, Rodrigo Bahamondes, Antonio Cano-Sánchez, Francisco Velasco
In young patients with T1D, neurological manifestations of cerebral hypertension should suggest the possibility of a cerebral venous sinus thrombosis (CVST). In these patients an inherited prothrombotic risk factor, including factor V Leiden G1691A gene mutation, should be considered during an event of thrombosis. Improving the glycemic control is the first factor that should be controlled in a patient who carries a genetic prothrombotic risk factor. Anticoagulant treatment should be started as son as CVST has been diagnosed...
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28750087/risk-prediction-of-developing-venous-thrombosis-in-combined-oral-contraceptive-users
#7
Aaron McDaid, Emmanuelle Logette, Valérie Buchillier, Maude Muriset, Pierre Suchon, Thierry Daniel Pache, Goranka Tanackovic, Zoltán Kutalik, Joëlle Michaud
BACKGROUND: Venous thromboembolism (VTE) is a complex multifactorial disease influenced by genetic and environmental risk factors. An example for the latter is the regular use of combined oral contraceptives (CC), which increases the risk to develop VTE by 3 to 7 fold, depending on estrogen dosage and the type of progestin present in the pill. One out of 1'000 women using CC develops thrombosis, often with life-long consequences; a risk assessment is therefore necessary prior to such treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28740966/portal-vein-thrombosis-as-a-rare-cause-of-abdominal-pain-when-to-consider
#8
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
#9
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
#10
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
#11
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/28698781/idiopathic-pulmonary-embolism-in-a-case-of-severe-family-ankrd26-thrombocytopenia
#12
Jerome Guison, Gilles Blaison, Oana Stoica, Remy Hurstel, Marie Favier, Remy Favier
Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a woman affected by deep vein thrombosis and pulmonary embolism in a thrombocytopenic context leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with lower-limb deep vein thrombosis complicated by pulmonary embolism. Severe thrombocytopenia was observed. The genetic study evidenced a heterozygous FV Leiden mutation...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28684050/thrombophilic-and-cardiovascular-risk-factors-for-retinal-vein-occlusion
#13
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
#14
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
#15
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
#16
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/28647870/prothrombotic-genetic-risk-factors-in-patients-with-very-early-st-segment-elevation-myocardial-infarction
#17
Loukianos S Rallidis, Argyri Gialeraki, Georgios Tsirebolos, Stylianos Tsalavoutas, Maria Rallidi, Efstathios Iliodromitis
The contribution of prothrombotic genetic risk factors in the pathogenesis of premature acute myocardial infarction (MI) is controversial. We examined the prevalence of prothrombotic polymorphisms (G1691A of factor V gene [FV Leiden] and G20210A of prothrombin [FII] gene), deficiencies of natural anticoagulants (protein C, protein S and antithrombin III) and antiphospholipid syndrome (APS) in patients with early ST-segment elevation MI (STEMI). We recruited 255 consecutive patients who had survived a STEMI ≤ 35 years of age (224 men)...
August 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28640000/panton-valentine-leukocidin-producing-staphylococcus-aureus-facial-pyomyositis-causing-partial-cavernous-sinus-thrombosis
#18
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
#19
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...
September 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
#20
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
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