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https://www.readbyqxmd.com/read/29120005/peripheral-neuropathy-due-to-recreational-use-of-nitrous-oxide-presenting-after-an-ankle-sprain-with-foot-drop
#1
Jackson A Middleton, John A Roffers
A 22-year-old man was referred for orthopedic follow-up after an ankle injury. Initial evaluation in urgent care included radiographs with negative findings. After a delayed presentation, a course of functional treatment was recommended. Subsequently, he developed a deep venous thrombosis and pulmonary emboli. He was found to be factor V Leiden deficient and was fully anticoagulated on warfarin. Later reevaluation revealed a steppage gait and foot drop. Electrodiagnostic studies (ie, electromyography and nerve conduction studies) revealed a severe peripheral polyneuropathy...
November 8, 2017: Orthopedics
https://www.readbyqxmd.com/read/29094466/joint-effects-of-prothrombotic-genotypes-and-body-height-on-the-risk-of-venous-thromboembolism-the-troms%C3%A3-study
#2
Lars D Horvei, Sigrid K Braekkan, Erin N Smith, Terry Solomon, Kristian Hindberg, Kelly A Frazer, Frits R Rosendaal, John-Bjarne Hansen
BACKGROUND: Studies have reported synergistic effects of prothrombotic single nucleotide polymorphisms (SNPs) and obesity on the risk of venous thromboembolism (VTE). Tall stature is associated with increased VTE risk, but the joint effect of prothrombotic genotypes and tall stature on VTE risk is unknown. AIMS: To investigate the joint effects of prothrombotic genotypes and tall stature on the risk of VTE. METHODS: Cases with incident VTE (n=676) and a randomly selected age-weighted subcohort (n=1842) were sampled from the Tromsø study (cohort follow-up: 1994-2012)...
November 2, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29093435/recurrent-thrombosis-a-case-of-hereditary-thromboembolism
#3
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing...
November 2, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29077664/a-case-report-of-recurrent-severe-peripartum-cardiomyopathy-complicated-by-factor-v-leiden-and-multiple-endocrine-neoplasia-type-1-a-management-conundrum
#4
Amanda M Kleiman, Jessica L Sheeran, Mohamed Tiouririne
Cardiovascular disease is the leading cause of peripartum death in the United States during pregnancy. The presence of concomitant diagnoses may complicate or conflict with the management of the primary cardiovascular diagnosis and further complicate pregnancy and delivery. We describe the management of a 29-year-old, gravida 5, para 1 woman with severe peripartum cardiomyopathy during this and a previous pregnancy complicated by multiple endocrine neoplasia type and factor V Leiden thrombophilia, limiting therapeutic options and contributing to considerable perioperative management challenges...
October 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29074563/pregnancy-thrombophilia-and-the-risk-of-a-first-venous-thrombosis-systematic-review-and-bayesian-meta-analysis
#5
REVIEW
F Nanne Croles, Kazem Nasserinejad, Johannes J Duvekot, Marieke Jha Kruip, Karina Meijer, Frank Wg Leebeek
Objective To provide evidence to support updated guidelines for the management of pregnant women with hereditary thrombophilia in order to reduce the risk of a first venous thromboembolism (VTE) in pregnancy.Design Systematic review and bayesian meta-analysis.Data sources Embase, Medline, Web of Science, Cochrane Library, and Google Scholar from inception through 14 November 2016.Review methods Observational studies that reported on pregnancies without the use of anticoagulants and the outcome of first VTE for women with thrombophilia were eligible for inclusion...
October 26, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29073275/thrombosis-after-liver-transplantation-for-hepatocellular-carcinoma
#6
MULTICENTER STUDY
Ida Martinelli, Francesca R Ponziani, Alberto Maino, Sherrie Bhoori, Maria Abbattista, Umberto Maggi, Tullia M De Feo, Paolo Bucciarelli, Andrea Artoni, Elena Longhi, Marta Serafini, Giorgio Rossi, Vincenzo Mazzaferro
The influence of thrombosis on the prognosis of patients with hepatocellular carcinoma (HCC) after liver transplantation (LT) and the role of the commonest inherited thrombophilia abnormalities factor V Leiden and prothrombin G20210A in the development of thrombosis are unknown. We investigated a cohort of patients who underwent LT for HCC with the aim to estimate the incidence rate (IR) of thrombosis, its influence on mortality and re-transplantation rates and, in the frame of a nested case-control study, the role of thrombophilia in donors and recipients for the development of thrombosis...
2017: PloS One
https://www.readbyqxmd.com/read/29017215/-pulmonary-embolism-despite-rivaroxaban-in-an-obese-patient
#7
Thomas Schuh, Claudia Stöllberger
Introduction Rivaroxaban, an oral factor Xa inhibitor, is approved for therapy of venous thromboembolism. It is unclear whether the standard dose for patients with a body mass index (BMI) > 40 kg/m(2) is sufficient. History The 45-year-old patient was admitted because of increasing respiratory distress. She had a history of pulmonary embolism 30 months before the admission, a factor V Leiden mutation and several hospitalisations due to dermatomycoses. The patient briefly took phenprocoumon which was changed to 20 mg rivaroxaban due to a lack of adherence...
October 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28927238/factor-v-leiden-is-associated-with-increased-sperm-count
#8
T E van Mens, U N Joensen, Z Bochdanovits, A Takizawa, J Peter, N Jørgensen, P B Szecsi, J C M Meijers, H Weiler, E Rajpert-De Meyts, S Repping, S Middeldorp
STUDY QUESTION: Is the thrombophilia mutation factor V Leiden (FVL) associated with an increased total sperm count? SUMMARY ANSWER: Carriers of FVL have a higher total sperm count than non-FVL-carriers, which could not be explained by genetic linkage or by observations in a FVL-mouse model. WHAT IS KNOWN ALREADY: FVL has a high prevalence in Caucasians despite detrimental health effects. Carriers have been shown to have higher fecundity, which might partly explain this evolutionary paradox...
November 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28920711/rivaroxaban-causes-missed-diagnosis-of-protein-s-deficiency-but-not-of-activated-protein-c-resistance-factor-v-leiden
#9
Elena Maryamchik, Matthew W Rosenbaum, Elizabeth M Van Cott
CONTEXT: - Rivaroxaban causes a false increase in activated protein C resistance (APCR) ratios and protein S activity. OBJECTIVE: - To investigate whether this increase masks a diagnosis of factor V Leiden (FVL) or protein S deficiency in a "real-world" population of patients undergoing rivaroxaban treatment and hypercoagulation testing. DESIGN: - During a 2.5-year period, we compared 4 groups of patients (n = 60): FVL heterozygous (FVL-HET)/taking rivaroxaban, wild-type/taking rivaroxaban, FVL-HET/no rivaroxaban, and normal APCR/no rivaroxaban...
September 18, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28914278/magnitude-of-potentially-inappropriate-thrombophilia-testing-in-the-inpatient-hospital-setting
#10
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
#11
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
#12
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)...
November 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
#13
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
#14
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 1, 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
#15
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
#16
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
#17
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
#18
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
#19
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...
September 5, 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
#20
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
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