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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
#1
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
#2
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...
May 16, 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
#3
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
https://www.readbyqxmd.com/read/28496539/efficacy-and-safety-of-direct-acting-oral-anticoagulants-use-in-acute-portal-vein-thrombosis-unrelated-to-cirrhosis
#4
Filipe Nery, Diana Valadares, Sara Morais, Manuel Teixeira Gomes, Andrea De Gottardi
In acute portal vein thrombosis (APVT) unrelated to cirrhosis, anticoagulant therapy is classically started with low molecular weight heparin or vitamin K antagonists. New direct-acting oral anticoagulants (DOACs) are used in the treatment of venous thrombosis outside the splanchnic vascular bed, but not in the latter. We report a young female with APVT occurring in a non-cirrhotic liver linked to heterozygosity of factor V-Leiden and prothrombin G20210A gene mutations. Rivaroxaban was started, with total recanalization of the left and partial recanalization of the right portal vein branches, without complications...
April 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28474148/sildenafil-related-cerebral-venous-sinus-thrombosis-and-papilledema-a-case-report-of-a-rare-entity
#5
Dilek Top Karti, Omer Karti, Dilara Aktert, Figen Gokcay, Nese Celebisoy
We present a rare case of cerebral venous sinus thrombosis associated with long-term and high-dose use of sildenafil. A 29-year-old man was referred to our neuroophthalmology clinic for bilateral visual deterioration and severe headache. He had stage 2 papilledema and other clinical and neurological examinations were normal. He had used the drug for nearly 2 years, two to three times a day. All laboratory parameters including blood count cell, coagulation panels, and genetic tests including methylene-tetrahydrofolate reductase and factor V Leiden mutation were unremarkable...
May 4, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28472350/diagnostic-testing-approaches-for-activated-protein-c-resistance-and-factor-v-leiden-a-comparison-of-institutional-and-national-provider-practices
#6
Juliana Perez Botero, Julie A Majerus, Ann K Strege, Ryan D Johnson, Dong Chen, Rajiv K Pruthi
Objectives: To analyze the economic impact of testing for activated protein C resistance (APC-R) due to factor V Leiden (FVL) mutation with APC-R with reflexive FVL genotyping (algorithmic approach) or genotyping alone. Methods: OptumLabs Data Warehouse (OLDW) data were used to assess testing approaches. Insurance claims for APC-R and FVL in 2013 were compared with the Mayo Clinic database. Centers for Medicare & Medicaid Services diagnostic fee schedules were used to assign costs...
May 2, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28411702/outcomes-of-iliac-vein-stents-after-pregnancy
#7
Mohini Dasari, Efthimios Avgerinos, Seshadri Raju, Robert Tahara, Rabih A Chaer
OBJECTIVE: Stenting is the first-line treatment for obstructive iliocaval lesions when intervention is required. The aim of the study was to evaluate iliocaval stent patency during and after pregnancy in women of reproductive age who became pregnant after stent placement. METHODS: Female patients of reproductive age (18-45 years old) who underwent iliocaval stenting between May 2007 and March 2014 were identified from a three-center prospectively maintained database...
May 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28397442/predictive-factors-of-thrombosis-for-patients-with-essential-thrombocythaemia-a-single-center-study
#8
Iwona Prajs, Kazimierz Kuliczkowski
BACKGROUND: Thrombotembolic complications are the leading cause of mortality in essential thrombocythemia (ET), but the definition of thrombotic risk remains far from clear. OBJECTIVES: The aim of this study was to evaluate the prognostic markers for thrombosis to identify ET patients at risk. MATERIAL AND METHODS: Forty-five consecutive patients with ET were studied. This group was divided into two subgroups ET patients with (A) and without (B) history of thrombosis...
January 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28395787/testing-for-thrombophilia-in-mesenteric-venous-thrombosis-retrospective-original-study-and-systematic-review
#9
REVIEW
M Zarrouk, S Salim, J Elf, A Gottsäter, S Acosta
The aim was to perform a local study of risk factors and thrombophilia in mesenteric venous thrombosis (MVT), and to review the literature concerning thrombophilia testing in MVT. Patients hospitalized for surgical or medical treatment of MVT at our center 2000-2015. A systematic review of observational studies was performed. In the local study, the most frequently identified risk factor was Factor V Leiden mutation. The systematic review included 14 original studies. The highest pooled percentage of any inherited thrombophilic factor were: Factor V Leiden mutation 9% (CI 2...
February 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28395587/a-low-rate-of-factor-v-leiden-mutation-among-sudanese-women-with-deep-venous-thrombosis-during-pregnancy-and-puerperium
#10
Abass Awad-Elkareem, Salaheldein G Elzaki, Hanan Khalid, Mual S Abdallah, Ishag Adam
No abstract text is available yet for this article.
April 11, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28390428/rivaroxaban-as-an-effective-alternative-to-warfarin-in-a-patient-with-atrial-fibrillation-thrombophilia-and-left-atrial-appendage-thrombus-a-case-report
#11
Michele Scarano, Matteo Casale, Cesare Mantini, Egidio Imbalzano, Cristiana Consorti, Daniela Clemente, Giuseppe Dattilo
BACKGROUND: Atrial fibrillation is the most common cardiac arrhythmia. It is responsible for up to 20% of all ischemic strokes. Rate control and anticoagulation are crucial for atrial fibrillation management and stroke prevention. CASE PRESENTATION: We present the case of an 84-year-old Italian woman with a left atrial appendage thrombus that developed despite her use of anticoagulant therapy with warfarin for a previous pulmonary embolism. She had atrial fibrillation and heterozygosity for both factor V Leiden and methylenetetrahydrofolate reductase C677T mutation, thus creating resistance to activated protein C...
April 9, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28382527/multiple-thrombophilia-mutations-as-a%C3%A2-possible-cause-of-premature-myocardial-infarction
#12
Gabriela Dostálová, Jan Bělohlávek, Zuzana Hlubocká, Kristýna Bayerová, Petra Bobčiková, Tomáš Kvasnička, Jan Kvasnička, Aleš Linhart, Debora Karetová
The incidence of acute myocardial infarction (AMI) increases with clustering of predisposing risk factors. In younger subjects with a positive family history of AMI occurring in relatives under the age of 60 years without obvious risk factors for atherosclerosis, there is a potential for strong inherited traits contributing to the risk of coronary disease. Among them there is increasing evidence that hereditary thrombophilia may play a major role. We present a unique case of a patient developing AMI at the age of 48 years...
April 5, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28361003/case-report-primary-osteonecrosis-associated-with-thrombophilia-hypofibrinolysis-and-worsened-by-testosterone-therapy
#13
Michael Ian Jarman, Kevin Lee, Ariel Kanevsky, Sarah Min, Ilana Schlam, Chris Mahida, Ali Huda, Alexander Milgrom, Naila Goldenberg, Charles J Glueck, Ping Wang
BACKGROUND: Familial and acquired thrombophilia are often etiologic for idiopathic hip and jaw osteonecrosis (ON), and testosterone therapy (TT) can interact with thrombophilia, worsening ON. CASE PRESENTATION: Case 1: A 62-year-old Caucasian male (previous deep venous thrombosis), on warfarin 1 year for atrial fibrillation (AF), had non-specific right hip-abdominal pain for 2 years. CT scan revealed bilateral femoral head ON without collapse. Coagulation studies revealed Factor V Leiden (FVL) heterozygosity, 4G/4G plasminogen activator inhibitor (PAI) homozygosity, high anti-cardiolipin (ACLA) IgM antibodies, and endothelial nitric oxide (NO) synthase (eNOS) T786C homozygosity (reduced conversion of L-arginine to NO, required for bone health)...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28352625/inherited-thrombophilia-in-pediatric-venous-thromboembolic-disease-why-and-who-to-test
#14
REVIEW
C Heleen van Ommen, Ulrike Nowak-Göttl
Venous thromboembolic disease in childhood is a multifactorial disease. Risk factors include acquired clinical risk factors such as a central venous catheter and underlying disease and inherited thrombophilia. Inherited thrombophilia is defined as a genetically determined tendency to develop venous thromboembolism. In contrast to adults, acquired clinical risk factors play a larger role than inherited thrombophilia in the development of thrombotic disease in children. The contributing role of inherited thrombophilia is not clear in many pediatric thrombotic events, especially catheter-related thrombosis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28348360/an-uncommon-case-of-lower-limb-deep-vein-thrombosis-with-multiple-etiological-causes
#15
Jing Miao, Geetha Naik, Sivakumar Muddana, Xiaohuan Li, Supriya Bhimasani, Ronald Alvin Mitchell, Dariush Alaie, Richard L Petrillo
BACKGROUND Deep vein thrombosis (DVT) is a type of venous thromboembolism with diverse clinical and environmental risk factors. Very few cases of DVT with multiple high risk factors have been reported. Here, we report an uncommon DVT case with multiple etiological causes, including appendicitis/appendectomy, morbid obesity, immobilization, positive phosphatidylserine IgG, and heterozygous factor V Leiden mutation. CASE REPORT A 43-year-old female was brought to the emergency room because of 2-week history of pain and swelling and ultrasound revealing evidence of DVT in the right leg...
March 28, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28331932/pulmonary-embolism-and-in-situ-pulmonary-artery-thrombosis-in-paediatrics-a-systematic-review
#16
Madhvi Rajpurkar, Tina Biss, Ernest Amankwah, Denise Martinez, Suzan Williams, C Heleen Van Ommen, Neil A Goldenberg
Data on paediatric pulmonary embolism (PE) are scarce. We sought to systematically review the current literature on childhood PE and conducted a search on paediatric PE via PubMed (1946-2013) and Embase (1980-2013). There was significant heterogeneity in reported data. Two patterns were noted: classic thromboembolic PE (TE-PE) and in situ pulmonary artery thrombosis (ISPAT). Mean age of presentation for TE-PE was 14.86 years, and 51 % of cases were males. The commonest method for diagnosis of TE-PE was contrast CT with angiography (74 % of patients)...
March 23, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28318106/lack-of-rivaroxaban-influence-on-a-prothrombinase-based-assay-for-the-detection-of-activated-c-protein-resistance-an-italian-ex-vivo-and-in-vitro-study-in-normal-subjects-and-factor-v-leiden-carriers
#17
G Gessoni, S Valverde, L Valle, F Gessoni, P Caruso, R Valle
INTRODUCTION: Activated protein C resistance (APCr) leads to hypercoagulability and is due, often but not exclusively, to Factor V Leiden (FVL). The aim of this study was to assess the ex vivo and in vitro interference of the direct factor Xa inhibitor rivaroxaban (RIV) on a prothrombinase-based assay for APCr detection. METHODS: An ex vivo study was performed on fresh plasma samples obtained from 44 subjects with FV wild-type and seven with FVL heterozygous, all treated with RIV...
March 20, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28293147/a-case-of-pulmonary-thromboembolism-due-to-coagulation-factor-v-leiden-in-japan%C3%A2-%C3%A2-usefulness-of-next-generation-sequencing
#18
Daisuke Sueta, Miwa Ito, Mitsuhiro Uchiba, Kenji Sakamoto, Eiichiro Yamamoto, Yasuhiro Izumiya, Sunao Kojima, Koichi Kaikita, Satoru Shinriki, Seiji Hokimoto, Hirotaka Matsui, Kenichi Tsujita
BACKGROUND: Because the venous thromboembolisms (VTEs) due to the coagulation factor V R506Q (FV Leiden) mutation is often seen in Caucasians, the VTE onset in Japan has not been reported. CASE PRESENTATION: A 34-year-old man from north Africa experiencing sudden dyspnea went to a hospital for advice. The patient had pain in his right leg and a high plasma D-dimer level. A contrast-enhanced computed tomography scan revealed a contrast deficit in the bilateral pulmonary artery and in the right lower extremity...
2017: Thrombosis Journal
https://www.readbyqxmd.com/read/28287382/effect-of-dabigatran-on-a-prothrombinase-based-assay-for-detecting-activated-protein-c-resistance-an-ex-vivo-and-in-vitro-study-in-normal-subjects-and-factor-v-leiden-carriers
#19
Gianluca Gessoni, Sara Valverde, Letizia Valle, Pierpaolo Caruso, Francesca Gessoni, Roberto Valle
BACKGROUND: The aim of this study was to evaluate ex vivo and in vitro interference of a direct factor IIa inhibitor, dabigatran, on a prothrombinase-based assay to detect activated protein C resistance. MATERIALS AND METHODS: An ex vivo study was performed in six heterozygous factor V Leiden carriers and 12 normal subjects without the factor V Leiden mutation who were treated with dabigatran. An in vitro study was also performed considering 12 plasma samples (six from normal subjects and six from heterozygous factor V Leiden carriers) spiked with dabigatran...
March 7, 2017: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/28283528/rheumatoid-arthritis-phenotype-at-presentation-differs-depending-on-the-number-of-autoantibodies-present
#20
V F A M Derksen, S Ajeganova, L A Trouw, A H M van der Helm-van Mil, I Hafström, T W J Huizinga, R E M Toes, B Svensson, D van der Woude
OBJECTIVES: In rheumatoid arthritis (RA), seropositive and seronegative disease may be two entities with different underlying pathophysiological mechanisms, long-term outcomes and disease presentations. However, the effect of the conjoint presence of multiple autoantibodies, as proxy for a more pronounced humoral autoimmune response, on clinical phenotype remains unclear. Therefore, this study investigates the association between the number of autoantibodies and initial clinical presentation in two independent cohorts of patients with early RA...
April 2016: Annals of the Rheumatic Diseases
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