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Factor v leiden

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https://www.readbyqxmd.com/read/27882227/g2691a-and-c2491t-mutations-of-factor-v-gene-and-pre-disposition-to-myocardial-infarction-in-morocco
#1
Wiam Hmimech, Brehima Diakite, Hind Hassani Idrissi, Khalil Hamzi, Farah Korchi, Dalila Baghdadi, Rachida Habbal, Sellama Nadifi
Coagulation factor Leiden mutation has been described as a common genetic risk factor for venous thrombosis; however, this mutation was reported to be practically absent in an African population. Recently, a novel non-sense mutation in the gene encoding factor V has been associated with the risk of occurrence of cardio-cerebrovascular diseases such as stroke and venous thrombosis. The aim of the present study was to investigate whether the factor V Leiden (FVL) and C2491T non-sense mutations are associated with the risk of developing myocardial infarction...
November 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27858977/atypical-presentation-of-livedo-racemosa-in-a-factor-v-leiden-heterozygous-positive-patient-with-pseudomonas-aeruginosa-urosepsis
#2
Jesse Johnston, Rowland Noakes, Kurt Davidson
Impairment of the protein C pathway, detectable by reduced plasma levels of activated protein C (APC), are risk factors for venous thrombosis. Activated protein C maintains clotting homeostasis by regulation of pro-coagulant factors Va and VIIIa. Both infection and the factor V Leiden mutation reduce the formation of APC from protein C in the blood. With low levels of APC, excess factors Va and VIIIa exist, increasing the risk of thrombus formation. Livedo racemosa is characterised by a striking, violaceous branch-like pattering of the skin...
November 12, 2016: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/27815482/mutations-of-two-major-coagulation-factors-are-not-associated-with-male-infertility
#3
Christos Yapijakis, Nikos Pachis, Dimitris Avgoustidis, Mary Adamopoulou, Zoe Serefoglou
BACKGROUND: Thrombophilia-related mutations, such as coagulation factor V Leiden and factor II (G20210A), have been associated with female infertility due to spontaneous abortions during pregnancy. The possible role of mutations of these two factors in male infertility has not been studied to date. MATERIALS AND METHODS: A total of 208 unrelated Greek men were investigated, including 108 infertile men with idiopathic oligozoospermia, azoospermia, and oligozoospermia of various etiologies, as well as 100 fertile male controls...
November 2016: In Vivo
https://www.readbyqxmd.com/read/27799457/the-prevalence-of-thrombophilia-in-women-with-recurrent-fetal-loss-and-outcome-of-anticoagulation-therapy-for-the-prevention-of-miscarriages
#4
Rawan Nahas, Walid Saliba, Adi Elias, Mazen Elias
OBJECTIVE: To estimate the prevalence of thrombophilia in women with recurrent miscarriages and to assess the effect of antithrombotic therapy. DESIGN: A retrospective cohort study between the years 2004 and 2010. SETTING: A hypercoagulation community clinic in northern Israel. PATIENTS: Four hundred ninety pregnant women referred for thrombophilia screening. MAIN OUTCOME MEASURES: Screening results for thrombophilia and antithrombotic treatment with enoxaparin, aspirin, or both and pregnancy outcomes...
October 30, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27797270/diagnosis-and-management-of-factor-v-leiden
#5
Elena Campello, Luca Spiezia, Paolo Simioni
The discovery of the factor V Leiden (FVL) missense mutation (Arg506Gln) causing factor V resistance to the anticoagulant action of activated protein C was a landmark that allowed a better understanding of the basis of inherited thrombotic risk. FVL mutation is currently the most common known hereditary defect predisposing to venous thrombosis. Areas covered: Novel data-driven FVL diagnosis and therapeutic approaches in the management of FVL carriers in various clinical settings. Brief conclusions on topics of direct clinical relevance including currently available indications for primary and secondary prophylaxis, the management of female, pediatric carriers and asymptomatic relatives...
December 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27785407/frequency-and-association-of-1691-g-a-fvl-20210-g-a-pt-and-677-c-t-mthfr-with-deep-vein-thrombosis-in-the-population-of-bosnia-and-herzegovina
#6
A Jusić-Karić, R Terzić, Z Jerkić, A Avdić, M Pođanin
The 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27766963/associations-of-recurrent-miscarriages-with-chromosomal-abnormalities-thrombophilia-allelic-polymorphisms-and-or-consanguinity-in-saudi-arabia
#7
Rola F Turki, Mourad Assidi, Huda A Banni, Hanan A Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A Rouzi, Osama Bajouh, Hassan S Jamal, Mohammed H Al-Qahtani, Adel M Abuzenadah
BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia...
October 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27766051/thrombophilia-in-east-asian-countries-are-there-any-genetic-differences-in-these-countries
#8
Toshiyuki Miyata, Keiko Maruyama, Fumiaki Banno, Reiko Neki
In recent years, genetic analyses of congenital deficiencies of three anticoagulant proteins, antithrombin, protein C (PC) and protein S (PS), in East Asian patients with venous thromboembolism (VTE) have greatly increased. The PS-K196E mutation is often identified in the Japanese population with an allelic frequency of 0.86 %, and a total of approximately 10,000 Japanese are estimated to be homozygotes. The heterozygotes show PS anticoagulant activities ranging from 40 to 110 %, and 16 % lower mean anticoagulant activity than that in wild-type individuals...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27764878/environmental-and-genetic-risk-factors-associated-with-venous-thromboembolism
#9
Marta Crous-Bou, Laura B Harrington, Christopher Kabrhel
Venous thromboembolism (VTE) includes deep vein thrombosis and pulmonary embolism, and a combination of environmental and genetic risk factors contributes to VTE risk. Within environmental risk factors, some are provoking (e.g., cancer, surgery, trauma or fracture, immobilization, pregnancy and the postpartum period, long-distance travel, hospitalization, catheterization, and acute infection) and others are nonprovoking (e.g., age, sex, race/ethnicity, body mass index and obesity, oral contraceptive or hormone therapy use, corticosteroid use, statin use, diet, physical activity, sedentary time, and air pollution)...
November 2016: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/27759448/toward-optimal-set-of-single-nucleotide-polymorphism-investigation-before-ivf
#10
A V Ivanov, A G Dedul, Y N Fedotov, E V Komlichenko
BACKGROUND: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP...
October 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27745619/hypercoagulable-states-what-the-oral-surgeon-needs-to-know
#11
Robert Bona
Thrombophilia or hypercoagulable conditions can be thought of as either inherited or acquired. The inherited disorders include deficiencies of antithrombin, protein C, or protein S or the common disorders of factor V Leiden and prothrombin G20210A gene mutation. All these disorders are inherited as autosomal dominant and predispose individuals primarily to venous thrombosis. Acquired thrombophilic conditions are seen in individuals with cancer, phospholipid antibodies, and a whole host of other conditions that alter endothelial function, change blood levels of coagulant or anticoagulant proteins, activate platelets, or have other effects on coagulation proteins, platelet function, or the endothelium...
November 2016: Oral and Maxillofacial Surgery Clinics of North America
https://www.readbyqxmd.com/read/27734511/review-article-the-aetiology-of-primary-budd-chiari-syndrome-differences-between-the-west-and-china
#12
REVIEW
X Qi, G Han, X Guo, V De Stefano, K Xu, Z Lu, H Xu, A Mancuso, W Zhang, X Han, D C Valla, D Fan
BACKGROUND: China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. AIM: To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China...
December 2016: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/27734187/the-use-of-direct-oral-anticoagulants-in-inherited-thrombophilia
#13
Jessica W Skelley, C Whitney White, Angela R Thomason
To review the use of the direct oral anticoagulant (DOAC) agents in inherited thrombophilia based on the literature. MEDLINE, International Pharmaceutical Abstracts, and Google Scholar searches (1970-May 2016) were conducted for case reports, case series, retrospective cohorts, or clinical trials using the key words: protein C deficiency, protein S deficiency, antithrombin deficiency, activated protein C resistance, Factor V Leiden, hypercoagulable, NOACs, dabigatran, apixaban, rivaroxaban, betrixaban, edoxaban, Xa inhibitor, direct thrombin inhibitor...
October 12, 2016: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/27731567/ertapenem-induced-acute-interstitial-nephritis-ain-in-a-case-of-protein-s-deficiency-and-factor-v-leiden-mutation-with-deep-vein-thrombosis
#14
Nitin Rathod, Pavan Pai
We present a case of 58 years old male patient, who presented with high fever for which injection Ertapenem was started empirically at Dubai hospital. Patient was a known case of Deep vein thrombosis of left leg since 5 years on warfarin therapy. Patient came to India for high fever and further management. Patient developed proteinuria with high creatinine and urinary abnormalities. Renal biopsy revealed acute interstitial nephritis (AIN). In addition, he was diagnosed to have protein S deficiency with Factor V Leiden mutation...
March 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27729560/thrombophilic-gene-mutations-in-relation-to-different-manifestations-of-venous-thromboembolism-a-single-tertiary-center-study
#15
Tahir Bezgin, Cihangir Kaymaz, Özgür Akbal, Fatih Yılmaz, Hacer Ceren Tokgöz, Nihal Özdemir
BACKGROUND: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the role of inherited thrombophilia as a causative or additive factor in the development of VTE. METHODS: The study included 310 patients (female: 154; mean age: 52.3 ± 16.9 years) with a first episode of VTE and 289 age- and sex-matched healthy controls...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27720088/association-between-factor-v-leiden-mutation-small-for-gestational-age-and-preterm-birth-a-systematic-review-and-meta-analysis
#16
Erin M Hemsworth, Amanda M O'Reilly, Victoria M Allen, Stefan Kuhle, Jo-Ann K Brock
OBJECTIVE: To estimate the association of a maternal factor V Leiden (FVL) mutation with SGA and preterm birth. DATA SOURCES: We performed a search of PubMed, Embase, Scopus, CINAHL, and the Cochrane Library from inception to April 2016 for cohort and case-control studies of women with FVL mutation and associated outcomes of SGA and preterm birth that included a reference group without FVL mutation. Additional studies were identified from reference lists of relevant research and review articles...
October 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/27712638/calciphylaxis-a-disease-of-pannicular-thrombosis
#17
Rokea A El-Azhary, Michelle T Patzelt, Robert D McBane, Amy L Weaver, Robert C Albright, Alina D Bridges, Paul L Claus, Mark D P Davis, John J Dillon, Ziad M El-Zoghby, LaTonya J Hickson, Rajiv Kumar, Kathleen A M McCarthy-Fruin, Marian T McEvoy, Mark R Pittelkow, David A Wetter, Amy W Williams, James T McCarthy
OBJECTIVE: To identify coagulation risk factors in patients with calciphylaxis and the relationship between anticoagulation use and overall survival. PATIENTS AND METHODS: Study subjects were 101 patients with calciphylaxis seen at Mayo Clinic from 1999 to September 2014. Data including thrombophilia profiles were extracted from the medical records of each patient. Survival status was determined using patient registration data and the Social Security Death Index...
October 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27698645/bilateral-legg-calve-perthes-disease-and-kienbock-s-disease-in-a-child-with-factor-v-leiden-thrombophilia-a-case-report
#18
Heather L Baltzer, Scott Riester, Steven L Moran
Background: The etiology of multifocal osteonecrosis is not definitively known; however, hypercoagulable state is a very plausible cause. Methods: We present an unusual case of a 12-year-old boy with a history of Legg-Calve-Perthes disease presenting with right wrist pain who was subsequently diagnosed with Kienbock's disease. The finding of multifocal osteonecrosis prompted testing for a hypercoagulable state that was positive for Factor V Leiden thrombophilia. A thorough literature review using Medline database was conducted to investigate associations between inherited hypercoagulable states and multifocal osteonecrosis...
September 2016: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/27695597/continuous-qualitative-electroencephalography-as-a-noninvasive-neuromonitor
#19
Zachary D Threlkeld, Mohan Kottapally, Aimee Aysenne, Nerissa Ko
Intracranial pressure (ICP) monitoring frequently guides key decisions in the management of diseases causing intracranial hypertension. Although typically measured by invasive means, contraindications may leave the clinician with little recourse for dynamic ICP evaluation-particularly when the patient's mental status is compromised. We describe here a healthy 18-year-old woman who subacutely progressed to coma due to diffuse cerebral venous sinus thrombosis. Heparinization precluded the use of invasive ICP monitoring, and electroencephalography (EEG) was used novelly as a surrogate ICP monitor...
October 2016: Neurohospitalist
https://www.readbyqxmd.com/read/27695590/isolated-thrombosis-of-right-spermatic-vein-with-underlying-factor-v-leiden-mutation
#20
Deniz Bolat, Bulent Gunlusoy, Serkan Yarimoglu, Funda Ozsinan, Serife Solmaz, Fatma Gul Imamoglu
Spermatic vein thrombosis is a very uncommon clinical entity. Most cases involve the left side. Herein, we present an unusual case of a young man who presented with spermatic vein thrombosis on the right side with an underlying Factor V Leiden mutation. To our knowledge, it is the first case in the literature.
September 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
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