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https://www.readbyqxmd.com/read/28914278/magnitude-of-potentially-inappropriate-thrombophilia-testing-in-the-inpatient-hospital-setting
#1
Eric Mou, Henry Kwang, Jason Hom, Lisa Shieh, Andre Kumar, Ilana Richman, Caroline Berube
Laboratory costs of thrombophilia testing exceed an estimated $650 million (in US dollars) annually. Quantifying the prevalence and financial impact of potentially inappropriate testing in the inpatient hospital setting represents an integral component of the effort to reduce healthcare expenditures. We conducted a retrospective analysis of our electronic medical record to evaluate 2 years' worth of inpatient thrombophilia testing measured against preformulated appropriateness criteria. Cost data were obtained from the Centers for Medicare and Medicaid Services 2016 Clinical Laboratory Fee Schedule...
September 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/28904463/relationship-between-factor-v-leiden-gene-variant-and-risk-of-ischemic-stroke-a-case-control-study
#2
Amit Kumar, Shubham Misra, Ram Sagar, Pradeep Kumar, Arun K Yadav, Pumanshi Talwar, Ritesh Raj, Kameshwar Prasad
BACKGROUND: Factor V Leiden is the most common genetic variation among the blood coagulation pathway which leads to prothrombotic state, therefore, is considered an important gene for understating the stroke mechanism. AIM: The aim of the present study is to determine the relationship between single nucleotide polymorphism at G1691A position of Factor V gene and risk of ischemic stroke (IS) in North Indian population. MATERIALS AND METHODS: In a retrospective case-control study, 250 patients with IS and 250 age- and gender-matched controls were enrolled in the period of October 2012 to September 2014 from in- and out-patient department of Neurology, All India Institute of Medical Sciences, New Delhi, India...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#3
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
September 9, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28884608/analysis-of-risk-factors-of-stroke-and-venous-thromboembolism-in-females-with-oral-contraceptives-use
#4
Petr Dulicek, Eva Ivanova, Milan Kostal, Petr Sadilek, Martin Beranek, Pavel Zak, Jana Hirmerova
Thrombotic diathesis has been a well-known complication of oral contraceptive use for more than 50 years. This is true not only for venous thrombosis but also for an arterial one. The etiology is usually multifactorial and depends on several additional risk factors. We analyzed the prevalence of inherited and acquired thrombophilia in a cohort of 770 females who had a thrombotic event in association with oral contraceptive use (700 women with venous thromboembolism [VTE], 70 with stroke). Moreover, we tried to identify additional risk factors...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28877324/t786c-mutation-in-the-endothelial-nitric-oxide-synthase-gene-in-patients-with-primary-osteonecrosis
#5
Amir M Khan, Joshua Choi, Richard A Freiberg, Charles J Glueck, Naila Goldenberg, Ping Wang
Mutations in the T786C endothelial nitric oxide synthase gene (eNOS) are associated with osteonecrosis and Prinzmetal's angina. Nitric oxide is necessary for bone health and ameliorates Prinzmetal's angina. This study compared mutations of T786C eNOS in 146 patients with primary osteonecrosis, 114 patients with Prinzmetal's angina, and 83 normal control subjects. Patients with osteonecrosis had more mutant eNOS alleles than control subjects (42% vs 22%, respectively; P<.0001) but had the same number of mutant alleles as patients with Prinzmetal's angina (42% vs 41%, respectively; P=...
September 6, 2017: Orthopedics
https://www.readbyqxmd.com/read/28869458/clinical-significance-of-factor-v-leiden-and-prothrombin-g20210a-mutations-in-cerebral-venous-thrombosis-comparison-with-arterial-ischemic-stroke
#6
Aida Beye, Gerhard Pindur
Cerebrovascular diseases are considered in a different way concerning their etiology with regard to arterial and venous occlusion. The role of thrombophilia in this context remains undetermined. For this reason, a case-control study was conducted including a total of 202 patients (154 females, 48 males) aged from 18 to 76 years (mean: 39.8 years) suffering either from cerebral sinus venous thrombosis (n = 101) or from arterial ischemic stroke (n = 101). Study groups were evaluated on the basis of age- and gender-matched pairs...
August 28, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28867034/-neonatal-arterial-ischemic-stroke-which-thrombotic-biological-risk-factors-to-investigate-and-which-practical-consequences
#7
T Perez, J B Valentin, E Saliba, Y Gruel
All biological risk factors that have been previously identified to increase the risk of thrombosis in adults, have also been studied in neonates with arterial Ischemic Stroke (NAIS), but most studies were retrospective and included relatively low numbers of affected children. We therefore could not suggest recommendations with a strong level of evidence and only expert proposals potentially useful for clinical practice will be presented in this text. Despite these limitations, the extensive analysis of published data supported that factor V Leiden (FVL) and increased levels of Lp(a) could be significant risk factors for NAIS...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28863787/venous-thromboembolism-and-hyperhomocysteinemia-as-first-manifestation-of-pernicious-anemia-a-case-series
#8
W Ammouri, Z Mezalek Tazi, H Harmouche, M Maamar, M Adnaoui
BACKGROUND: Hyperhomocysteinemia has been suspected of favoring thrombosis. Several case-control studies and even a meta-analysis have confirmed a link between venous thrombosis and hyperhomocysteinemia. Homocysteine is due to genetic and acquired factors (poor diet in folate and vitamin B12, older age, renal impairment, thyroid diseases, and malignancies) induced by the intake and the concentrations of vitamin B9 or B12 in the majority of cases. CASES PRESENTATION: We report the cases of four Moroccan patients who presented with acute vein thrombosis of different sites: a 34-year-old man, a 60-year-old man, a 58-year-old man, and a 47-year-old woman...
September 2, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28834877/first-venous-thromboembolism-and-hormonal-contraceptives-in-young-french-women
#9
Justine Hugon-Rodin, Marie-Hélène Horellou, Jacqueline Conard, Claire Flaujac, Anne Gompel, Geneviève Plu-Bureau
Information on the clinical and biological characteristics of combined hormonal contraceptives (CHC) users experiencing a venous thromboembolism (VTE) event is scarce. Better knowledge of factors determining the VTE risk in CHC users could help identify women at high risk.Data were obtained from a large cohort of consecutive women with the first documented VTE event. Cross-sectional analysis of clinical and biological characteristics of the women was performed.Of the 3009 women with the first VTE included, 31% were nonusers and 69% CHC users at time of VTE...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28827327/sensitized-mutagenesis-screen-in-factor-v-leiden-mice-identifies-thrombosis-suppressor-loci
#10
Randal J Westrick, Kärt Tomberg, Amy E Siebert, Guojing Zhu, Mary E Winn, Sarah L Dobies, Sara L Manning, Marisa A Brake, Audrey C Cleuren, Linzi M Hobbs, Lena M Mishack, Alexander J Johnston, Emilee Kotnik, David R Siemieniak, Jishu Xu, Jun Z Li, Thomas L Saunders, David Ginsburg
Factor V Leiden (F5(L) ) is a common genetic risk factor for venous thromboembolism in humans. We conducted a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for dominant thrombosuppressor genes based on perinatal lethal thrombosis in mice homozygous for F5(L) (F5(L/L) ) and haploinsufficient for tissue factor pathway inhibitor (Tfpi(+/-) ). F8 deficiency enhanced the survival of F5(L/L)Tfpi(+/-) mice, demonstrating that F5(L/L)Tfpi(+/-) lethality is genetically suppressible. ENU-mutagenized F5(L/L) males and F5(L/+)Tfpi(+/-) females were crossed to generate 6,729 progeny, with 98 F5(L/L)Tfpi(+/-) offspring surviving until weaning...
August 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28804824/laboratory-testing-for-activated-protein-c-resistance-apcr
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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