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https://www.readbyqxmd.com/read/28331932/pulmonary-embolism-and-in-situ-pulmonary-artery-thrombosis-in-paediatrics-a-systematic-review
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28262227/gender-related-differences-in-the-outcome-of-patients-with-venous-thromboembolism-and-thrombophilia
#6
Inna Tzoran, Emmanouil Papadakis, Benjamin Brenner, Reina Valle, Luciano López-Jiménez, Fernando García-Bragado, Antoni Riera-Mestre, Aurora Villalobos, Roberto Quintavalla, Manuel Monreal
BACKGROUND: In patients with venous thromboembolism (VTE) and factor V Leiden (FVL) or prothrombin 20210G-A mutation (PTM), the influence of gender on outcome has not been consistently studied. METHODS: We used the RIETE (Registro Informatizado Enfermedad TromboEmbolica) database to assess the existence of gender differences in the rate of VTE recurrences (deep vein thrombosis [DVT] or pulmonary embolism [PE]) or major bleeding during the course of anticoagulation and after its discontinuation in FVL and PTM carriers...
March 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28259966/a-genetic-risk-factor-for-thrombophilia-in-a-han-chinese-family
#7
Guoping Sun, Yicong Jia, Jingye Meng, Minglin Ou, Peng Zhu, Shan Cong, Yadan Luo, Weiguo Sui, Yong Dai
Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well‑known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, abnormal prothrombin and antiphospholipid syndrome. The present study revealed an association between a mutation of the F2 gene, which codes for coagulation factor II, thrombin, and the risk of thrombophilia in a Han Chinese family, of which four members (I‑2, II‑2, II‑3 and III‑1) had a history of deep venous thromboembolism...
February 17, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28258054/thrombophilia-risk-is-not-increased-in-children-after-perinatal-stroke
#8
Colleen Curtis, Aleksandra Mineyko, Patricia Massicotte, Michael Leaker, Xiu Yan Jiang, Amalia Floer, Adam Kirton
Perinatal stroke causes cerebral palsy and lifelong disability. Specific diseases are definable but mechanisms are poorly understood. Evidence suggests possible associations between arterial perinatal stroke and prothrombotic disorders but population-based, controlled, disease-specific studies are limited. Understanding thrombophilia in perinatal stroke informs pathogenesis models and clinical management. We conducted a population-based, prospective, case-control study to determine the association of specific perinatal stroke diseases with known thrombophilias...
March 3, 2017: Blood
https://www.readbyqxmd.com/read/28203573/multiple-brain-abscesses-in-an-immunocompetent-patient-with-factor-v-leiden-mutation
#9
Saeed Zubair Zafar, Najwa Pervin, Sukesh Manthri, Mukul Bhattarai
Multiple brain abscesses in an immunocompetent patient is a challenging clinical problem in the medical world despite advances in imaging techniques, laboratory diagnostics, surgical interventions, and antimicrobial treatment. It is a clinical entity that typically tends to occur in the presence of known predisposing factors. Clinicians seek to determine the potential risk factors responsible for the development of brain abscess because it is very crucial for management of this life-threatening condition. At times, like in our case, there are clinical situations where it is difficult to reveal any traditional risk factors...
October 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28181217/hypercoagulability-and-migraine
#10
Gretchen E Tietjen, Stuart A Collins
BACKGROUND: A growing body of literature suggests that migraineurs, particularly those with aura, have an increased risk for ischemic stroke, but not via enhanced atherosclerosis. The theory that micro-emboli induced ischemia provokes cortical spreading depression (ie, symptomatic aura) in migraineurs but transient ischemic attacks in others highlights a potential role for hypercoagulability as a link between migraine (with aura) and stroke. AIM: Our objective is to summarize the literature evaluating the association of migraine with various acquired or inheritable thrombophilic states, including those related to elevated estrogen levels, endothelial activation and dysfunction, antiphospholipid antibodies (aPL), deficiency of coagulation inhibitors, and presence of certain genetic polymorphisms...
February 9, 2017: Headache
https://www.readbyqxmd.com/read/28149021/prevalence-of-factor-v-leiden-g1691a-and-mthfr-c677t-thrombosis-gene-modifier-in-iron-deficiency-anemia-a-pathophysiological-effect-in-indian-isolates
#11
S K Pandey, S Pandey, R M Mishra, M Indurkar
Normal iron levels are required to prevent thrombocytosis by inhibiting thrombopoiesis. Thrombocytosis is usually associated with a mild iron deficiency and is the result of a lack of inhibition of thrombopoiesis. Study participants were 430 iron deficiency anemia (IDA) patients. Ten (10) mL of venous blood were collected for the subjects. Ferritin analysis was done by ELISA method while Hemogram analysis was done by auto-analyzer. Factor V Leiden, PRTG20210A, and MTHFR C677T genotype analysis was performed by PCR-RFLP method...
March 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28147377/case-report-acute-flair-of-ulcerative-colitis-during-pregnancy-is-still-a-major-problem
#12
Marijana Protic, Srdjan Markovic, Dino Tarabar
Although severe flare of ulcerative colitis (UC) is uncommon, it significantly increases the risk of preterm delivery, low birth weight and other adverse fetal outcomes. It is critical to optimize aggressive medical treatment with both mother and fetal health. Here, we present a case of a 30-year-old woman with a severe flare of UC at the 16th gestational week. The diagnosis of extensive UC was established 8 years ago. From the time she was diagnosed, she had 5 moderate flares successfully treated with oral and topical mesalamine...
2017: Digestive Diseases
https://www.readbyqxmd.com/read/28145780/cilioretinal-artery-vasculogenesis-might-be-promoted-by-plasminogen-activator-inhibitor-1-5g-allele
#13
Sarenur Yilmaz, Aylin Ardagil, Ibrahim Akalin, Meltem Guzin Altinel, Yasar Dag, Esra Kurum, Efe Koyun, Sevil Ari Yaylali, Huseyin Bayramlar
BACKGROUND: Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryonic life. METHODS: We assessed plasminogen activator inhibitor-1 (PAI-1) 4G/5G, methylenetetrahydrofolatereductase (MTHFR), FACTOR V LEIDEN and PROTHROMBIN gene polymorphisms on 130 patients [82/48 females/males; Median age: 57 (18-84) with visible CAs and 100 (64/36: female/male; Median age: 55 (19-90)] without visible CAs...
February 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28134019/superficial-vein-thrombosis-in-non-varicose-veins-of-the-lower-limbs-and-thrombophilia
#14
Gabriella Lucchi, Salvino Bilancini, Sandro Tucci, Massimo Lucchi
Objectives Superficial vein thrombosis in non-varicose veins of the lower limbs is rather frequent and may be underestimated. This study aims to evaluate the prevalence of inherited or acquired thrombophilia in a sample of outpatients with the disease. Method An observational study was conducted on 73 consecutive superficial vein thrombosis patients tested for inherited or acquired thrombophilia. Results Sixty of 73 patients with superficial vein thrombosis completed the testing protocol, while 13 dropped out; 46 of 60 patients were found to have a thrombophilia (76...
January 1, 2017: Phlebology
https://www.readbyqxmd.com/read/28128085/antiphospholipid-syndrome-with-anti%C3%AE-2glicoprotein-1-antibodies-as-the-cause-of-recurrent-tibial-vein-thrombosis-in-sapho-syndrome
#15
Hanna Przepiera-Będzak, Marek Brzosko
The antiphospholipid antibody syndrome is defined by the presence of antiphospholipid antibodies in patients with recurrent venous or arterial thromboembolism (1). SAPHO syndrome is a rare disease, characterized by specific clinical manifestations of synovitis, acne pustulosis, hyperostosis, and osteitis. It is a disease that manifests with a combination of osseous and articular manifestations associated with skin lesions (2). Venous thrombosis complicating SAPHO syndrome seems to be uncommon with an unclear pathogenesis (3-9)...
December 2016: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28086795/atherosclerotic-and-thrombotic-genetic-and-environmental-determinants-in-egyptian-coronary-artery-disease-patients-a-pilot-study
#16
Manal S Fawzy, Eman A Toraih, Nagwa M Aly, Abeer Fakhr-Eldeen, Dahlia I Badran, Mohammad H Hussein
BACKGROUND: Coronary artery disease (CAD) is the leading cause of morbidity and mortality worldwide. Multiple genetic variants in combination with various environmental risk factors have been implicated. This study aimed to investigate the association of twelve thrombotic and atherosclerotic gene variants in combination with other environmental risk factors with CAD risk in a preliminary sample of Egyptian CAD patients. METHODS: Twenty three consecutive CAD patients undergoing diagnostic coronary angiography and 34 unrelated controls, have been enrolled in the study...
January 13, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28079536/non-vitamin-k-antagonist-oral-anticoagulants-in-patients-with-severe-inherited-thrombophilia-a-series-of-33-patients
#17
Anetta Undas, Tadeusz Goralczyk
The aim of the study was to investigate whether treatment with non-vitamin K antagonist oral anticoagulants (NOACs) is effective and well tolerated in real-life patients following venous thromboembolism (VTE) associated with severe inherited thrombophilia. We evaluated 33 consecutive patients with severe inherited thrombophilia, defined as the presence of deficiencies in protein C, protein S, or anti-thrombin, homozygous factor V Leiden and prothrombin G20210A mutations, or combined defects. The patients were recruited from March 2010 to December 2015 and followed till July 2016...
January 12, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28063132/evaluation-of-role-of-fv-fviii-and-aplas-in-the-pathogenesis-of-apcr-in-fv-leiden-negative-dvt-patients-a-study-in-india
#18
Amit Sharma, Kanwaljeet Singh, Arijit Biswas, Ravi Ranjan, Kamal Kishor, Ravi Kumar, Hareram Pandey, Vineet Kumar Kamal, Renu Saxena
Resistance to APC (APCR) is a very important cause of thrombophilia and most frequently caused by the Leiden mutation. APCR is also seen in the absence of FV Leiden and associated with elevated levels of factor V (FV), factor VIII (FVIII) and antiphospholipid antibodies (APLAs). The aim of this prospective case control study was to find out the frequency and role of FV, FVIII and APLAs in the pathogenesis of APCR in FV Leiden negative deep vein thrombosis (DVT) patients in India. A total 30 APCR positive and FV Leiden negative patients with DVT and similar number of age and sex matched healthy controls were recruited...
January 6, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28038774/cerebral-venous-thrombosis-at-high-altitude-a-systematic-review
#19
REVIEW
C Zavanone, M Panebianco, M Yger, A Borden, D Restivo, C Angelini, A Pavone, G Grimod, C Rosso, S Dupont
BACKGROUND AND OBJECTIVE: High altitude may be a factor associated with cerebral venous thrombosis (CVT). As our knowledge of CVT at high altitude is limited, it was decided to pool such information from the available case studies to determine whether high altitude can predispose to CVT. METHODS: A systematic review of the literature was performed for cases reporting CVT at high altitude. Searches of the PubMed database (up to July 2016) were performed for publications, using 'cerebral venous thrombosis' and 'high altitude' as keywords...
December 27, 2016: Revue Neurologique
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#20
E Saliba, T Debillon, S Auvin, O Baud, V Biran, J-L Chabernaud, S Chabrier, F Cneude, A-G Cordier, V Darmency-Stamboul, J-F Diependaele, T Debillon, M Dinomais, C Durand, A Ego, G Favrais, Y Gruel, L Hertz-Pannier, B Husson, S Marret, S N'Guyen The Tich, T Perez, E Saliba, J-B Valentin, C Vuillerot
Neonatal arterial ischemic stroke (NAIS) is a rare event that occurs in approximately one in 5000 term or close-to-term infants. Most affected infants will present with seizures. Although a well-recognized clinical entity, many questions remain regarding diagnosis, risk factors, treatment, and follow-up modalities. In the absence of a known pathophysiological mechanism and lack of evidence-based guidelines, only supportive care is currently provided. To address these issues, a French national committee set up by the French Neonatal Society (Société française de néonatologie) and the national referral center (Centre national de référence) for arterial ischemic stroke in children drew up guidelines based on an HAS (Haute Autorité de santé [HAS]; French national authority for health) methodology...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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