Genomes and Genes
Summary: A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS.
Publications330 found, 100 shown here
- Thrombophilia in young patients with cryptogenic stroke and patent foramen ovale (PFO)Pietro Offelli
Clinical Cardiology, Thrombosis Centre, University Hospital, Padova, Italy
Thromb Haemost 98:906-7. 2007
- Thrombophilia, clinical factors, and recurrent venous thrombotic eventsSverre C Christiansen
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
JAMA 293:2352-61. 2005Data on the recurrence rate of venous thrombotic events and the effect of several risk factors, including thrombophilia, remain controversial...
- Venous thromboembolism, thrombophilia, antithrombotic therapy, and pregnancy: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition)Shannon M Bates
Department of Medicine, McMaster University and Henderson Research Centre, Hamilton, Ontario, Canada
Chest 133:844S-886S. 2008This article discusses the management of venous thromboembolism (VTE) and thrombophilia, as well as the use of antithrombotic agents, during pregnancy and is part of the American College of Chest Physicians Evidence-Based Clinical ..
- Thrombophilia, hypofibrinolysis, the eNOS T-786C polymorphism, and multifocal osteonecrosisCharles J Glueck
Cholesterol Center, Jewish Hospital of Cincinnati, Cincinnati, OH 45229, USA
J Bone Joint Surg Am 90:2220-9. 2008We examined the hypothesis that thrombophilia, hypofibrinolysis, and the endothelial nitric oxide synthase (eNOS) T-786C polymorphism are common, potentially treatable, and similar pathophysiologic causes of multifocal (three sites or ..
- VTE, thrombophilia, antithrombotic therapy, and pregnancy: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice GuidelinesShannon M Bates
Department of Medicine, McMaster University and Thrombosis and Atherosclerosis Research Institute, Hamilton, ON, Canada
Chest 141:e691S-736S. 2012..This guideline focuses on the management of VTE and thrombophilia as well as the use of antithrombotic agents during pregnancy.
- Increased rates of thrombophilia in women with repeated IVF failuresFoad Azem
Department of Obstetrics and Gynecology, Lis Maternity Hospital and Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Hum Reprod 19:368-70. 2004We investigated whether hereditary thrombophilia is more prevalent in women with recurrent IVF-embryo transfer failures.
- Thrombophilia and venous thromboembolism. International consensus statement. Guidelines according to scientific evidenceA N Nicolaides
Int Angiol 24:1-26. 2005b>Thrombophilia is the term now used to describe predisposition to increased risk of venous and occasionally arterial thromboembolism due to hematological abnormalities...
- Low molecular weight heparin and aspirin for recurrent pregnancy loss: results from the randomized, controlled HepASA TrialCarl A Laskin
University of Toronto and LifeQuest Centre for Reproductive Medicine, Toronto, Canada
J Rheumatol 36:279-87. 2009....
- The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP)J Roemisch
Aventis Behring GmbH, Preclinical Research and Development, Marburg, Germany
Blood Coagul Fibrinolysis 13:433-41. 2002..These results support the hypothesis that FSAP contributes to the scuPA-dependent plasma fibrinolytic potential, which can be impaired in plasmas containing the FSAP Marburg I polymorphism, for instance...
- The role of thrombophilia and thyroid autoimmunity in unexplained infertility, implantation failure and recurrent spontaneous abortionJose Bellver
Instituto Valenciano de Infertilidad IVI, University of Valencia, Plaza de la Policia Local, 3, 46015 Valencia, Spain
Hum Reprod 23:278-84. 2008The role of thrombophilia and thyroid autoimmunity in unexplained infertility (UI), implantation failure (IF) and recurrent spontaneous abortion (RSA) is controversial and poorly understood.
- Risk factors and recurrence rate of primary deep vein thrombosis of the upper extremitiesIda Martinelli
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Dermatology, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, University of Milano, Italy
Circulation 110:566-70. 2004..Risk factors for primary upper-extremity DVT are not well established, and the recurrence rate is unknown...
- Pregnancy, the postpartum period and prothrombotic defects: risk of venous thrombosis in the MEGA studyE R Pomp
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
J Thromb Haemost 6:632-7. 2008..Objective: In the MEGA study, we evaluated pregnancy and the postpartum period as risk factors for venous thrombosis in 285 patients and 857 control subjects...
- Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseasesA H Wu
Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, Connecticut 06102, USA
Am J Cardiol 87:1361-6. 2001..The impact of certain genotypes must be examined in relation to other established risk factors and potentially new therapeutic strategies...
- Reactive thrombocytosis might contribute to chemotherapy-related thrombophilia in patients with lung cancerGabriella Zecchina
Division of Hematology, San Luigi Hospital, University of Turin, Orbassano, Italy
Clin Lung Cancer 8:264-7. 2007..Thrombotic risk is increased in patients with cancer and further potentiated by chemotherapy. We assessed whether early hemostatic alterations could represent a risk factor for thrombosis in patients undergoing chemotherapy for lung cancer...
- Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophiliaN H Gehring
Department of Pediatrics, , Humboldt University, Berlin, Germany
Nat Genet 28:389-92. 2001..causing a genetic disorder and explains the role of the F2 20210 G-->A mutation in the pathogenesis of thrombophilia. This work also illustrates the pathophysiologic importance of quantitatively minor aberrations of RNA ..
- Acquired and inherited thrombophilia: implication in recurrent IVF and embryo transfer failureHussein S Qublan
Department of Obstetrics and Gynecology, Royal Medical Services, Jordan Armed Forces, Irbid, Jordan
Hum Reprod 21:2694-8. 2006..The objective of this study was to determine the incidence of undiagnosed thrombophilic factors and its relation to IVF and embryo transfer failure in women who have had three or more previous IVF-embryo transfer cycles...
- The prevalence of thrombophilia in patients with chronic venous leg ulcerationRhoda K Mackenzie
Vascular Surgery Unit, Royal Infirmary, Edinburgh, United Kingdom
J Vasc Surg 35:718-22. 2002b>Thrombophilia is increasingly recognized as a risk factor for deep venous thrombosis (DVT), which in turn is a major risk factor for chronic venous ulceration (CVU). However, the relationship between thrombophilia and CVU remains unknown...
- Coagulation and inflammation. Molecular insights and diagnostic implicationsS Lipinski
Institut für Klinische Molekularbiologie, Christian Albrechts Universitat, Schittenhelmstr 12, 24105 Kiel, Germany
Hamostaseologie 31:94-102, 104. 2011....
- Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort studyTrevor Baglin
Department of Haematology, Addenbrooke s NHS Trust, Cambridge, UK
Lancet 362:523-6. 2003..We aimed to determine the incidence of recurrence of VTE in relation to clinical risk factors and standard laboratory testing for heritable thrombophilic defects...
- Early pregnancy loss in celiac women: The role of genetic markers of thrombophiliaC Ciacci
Gastroenterologia, Dipartimento di Medicina Clinica e Sperimentale, University of Naples Federico II, Naples, Italy
Dig Liver Dis 41:717-20. 2009..Adverse pregnancy outcomes are more frequent in celiac than in non-celiac women...
- Hemostatic changes in thyroid diseases: haemostasis and thrombosisMassimo Franchini
Servizio di Immunoematologia e Trasfusione Centro Emofilia, Azienda Ospedaliera di Verona, Verona, Italy
Hematology 11:203-8. 2006....
- Thrombophilia and hypercoagulabilityHouria I Hassouna
Department of Medicine, Michigan State University, East Lansing, MI 48824 1313, USA
Med Princ Pract 18:429-40. 2009This is a review of less well-known aspects of thrombophilia and hypercoagulability as they relate to thrombosis...
- Inherited thrombophilia in ischemic stroke and its pathogenic subtypesG J Hankey
Stroke Unit, Department of Neurology, Royal Perth Hospital, Perth, Australia
Stroke 32:1793-9. 2001..a proportion of ischemic strokes, but few studies have addressed this association or the association between thrombophilia and pathogenic subtypes of stroke...
- Is thrombophilia a major risk factor for deep vein thrombosis of the lower extremities among Lebanese patients?R Kreidy
Department of Vascular Surgery, Saint George Hospital, University Medical Center, Youssef Sursock Street, PO Box 166378, Achrafieh, Beirut 11002807, Lebanon
Vasc Health Risk Manag 5:627-33. 2009..The aim of this study is to define risk factors including inherited genetic abnormalities among Lebanese patients with lower extremity deep vein thrombosis. We report the clinical outcome of patients with thrombophilia.
- Upper extremity deep venous thrombosis in the population-based Malmö thrombophilia study (MATS). Epidemiology, risk factors, recurrence risk, and mortalityNazim Isma
University of Lund Centre for Thrombosis and Haemostasis, Malmo University Hospital, S 20502 Malmo, Sweden
Thromb Res 125:e335-8. 2010..Deep venous thrombosis (DVT) is much less common in the upper than in the lower extremity. Furthermore, there is limited information on risk factors for and the prognosis of upper extremity (UE)DVT in the general population...
- Inherited thrombophilia and pregnancy complications revisitedMarc A Rodger
Thrombosis Program, Division of Hematology, Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada
Obstet Gynecol 112:320-4. 2008..An inherited thrombophilia is only one of many factors that lead to development of these diseases and is unlikely to be the unique factor ..
- Impact of inherited thrombophilia on venous thromboembolism in children: a systematic review and meta-analysis of observational studiesGuy Young
Division of Hematology Oncology, Children s Hospital Los Angeles, Los Angeles, CA, USA
Circulation 118:1373-82. 2008The aim of the present study was to estimate the impact of inherited thrombophilia (IT) on the risk of venous thromboembolism (VTE) onset and recurrence in children by a meta-analysis of published observational studies.
- Protein C and protein S deficiencies are the most important risk factors associated with thrombosis in Chinese venous thrombophilic patients in TaiwanM C Shen
Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei
Thromb Res 99:447-52. 2000The relative risks (odds ratio, OR) of various risk factors for venous thrombophilia, including sex, antithrombin III, protein C (PC), protein S (PS) and plasminogen deficiencies, and C677T homozygous mutation of ..
- High risk of recurrent venous thromboembolism in menT Baglin
Addenbrooke s NHS Trust, Cambridge CB2 2QQ, UK
J Thromb Haemost 2:2152-5. 2004..We have analyzed the influence of gender on risk of recurrence after a first episode of venous thromboembolism (VTE)...
- Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relativesWillem M Lijfering
Department of Hematology, University Medical Center Groningen, The Netherlands
Blood 113:5314-22. 2009b>Thrombophilia screening is controversial. In a retrospective family cohort, where probands had thrombosis and a thrombophilic defect, 2479 relatives were tested for thrombophilia...
- Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studiesGili Kenet
Pediatric Hematology and Oncology, University Hospital of Munster, Albert Schweitzer Str 33, D 48149 Munster, Germany
Circulation 121:1838-47. 2010The aim of this study was to estimate the impact of thrombophilia on risk of first childhood stroke through a meta-analysis of published observational studies.
- The psychological impact of testing for thrombophilia: a systematic reviewD M Cohn
Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
J Thromb Haemost 6:1099-104. 2008Nowadays, large numbers of patients are tested for thrombophilia, even though the benefits of this strategy remain unclear...
- Hypercoagulation and thrombophilia in liver diseaseP G Northup
Division of Gastroenterology and Hepatology, University of Virginia Health System, Charlottesville, VA 22908 0708, USA
J Thromb Haemost 6:2-9. 2008..Critical areas lacking clinical information are highlighted and future areas of research interest are defined with an aim to foster clinical research in this field...
- Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patientsHussain Isma'eel
American University of Beirut Medical Center
J Thromb Thrombolysis 22:121-3. 2006The role of genetic thrombophilia in the development of both micro and macro vascular complications in patients with hemoglobinopathies (Sickle cell disease and thalassemia) have been investigated with some studies negating its role ..
- The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein SValerio De Stefano
Institute of Hematology, Catholic University, Rome, Italy
Haematologica 91:695-8. 2006..9, 95% CI 1.0-3.9); the carriers of PC or PS deficiency had a marginal increase in risk (hazard ratio 1.4, 95% CI 0.9-2.2). In conclusion, patients with AT deficiency are potential candidates for long-term oral anticoagulation...
- Prevalence of two thrombophilia predisposing mutations: factor V G1691A (R506Q; Leiden) and prothrombin G20210A, among healthy LebaneseHala Tamim
Thromb Haemost 88:691-2. 2002
- The risk of recurrent venous thromboembolism after discontinuing anticoagulation in patients with acute proximal deep vein thrombosis or pulmonary embolism. A prospective cohort study in 1,626 patientsPaolo Prandoni
Department of Medical and Surgical Sciences, University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy
Haematologica 92:199-205. 2007..The aim of this investigation was to assess the rate of recurrent VTE after withdrawal of vitamin K antagonists, and to identify clinical parameters associated with a higher likelihood of recurrence...
- Risk factors for thrombophilia in extrahepatic portal vein obstructionMassimo Primignani
Gastroenterology and Gastrointestinal Endoscopy Service, Department of Internal Medicine and Dermatology, IRCCS Maggiore Hospital and University of Milano, Milan, Italy
Hepatology 41:603-8. 2005Scant information exists on the role of thrombophilia in extrahepatic portal vein obstruction (EHPVO)...
- Predictive value of D-dimer test for recurrent venous thromboembolism after anticoagulation withdrawal in subjects with a previous idiopathic event and in carriers of congenital thrombophiliaGualtiero Palareti
Dipartimento di Angiologia, Unità Ricerca Clinica sulla Trombofilia Marino Golinelli, University Hospital S Orsola Malpighi, Bologna, Italy
Circulation 108:313-8. 2003..The aim of the present study was to assess the predictive value of D-dimer for recurrent VTE in subjects with a previous unprovoked event who are either carriers of inherited thrombophilia or not.
- Nonalcoholic fatty liver disease as a contributor to hypercoagulation and thrombophilia in the metabolic syndromeGiovanni Targher
Department of Biomedical and Surgical Sciences, University of Verona, Italy
Semin Thromb Hemost 35:277-87. 2009..The clinical impact of NAFLD on the proinflammatory/prothrombotic risk profile deserves particular attention in view of the implications for screening and surveillance strategies in the growing number of patients with NAFLD...
- Does thrombophilia testing help in the clinical management of patients?Saskia Middeldorp
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
Br J Haematol 143:321-35. 2008b>Thrombophilia can be identified in about half of all patients presenting with venous thrombosis...
- Prothrombin gene G20210A mutation and obstetric complicationsRobert M Silver
Departments of Obstetrics and Gynecology at the University of Alabama at Birmingham, Birmingham, Alabama, USA
Obstet Gynecol 115:14-20. 2010..To estimate whether maternal carriage of the prothrombin gene G20210A mutation is associated with pregnancy loss, preeclampsia, placental abruption, or small for gestational age (SGA) neonates in a low-risk, prospective cohort...
- Inherited thrombophilic risk factors and venous thromboembolism: distinct role in peripheral deep venous thrombosis and pulmonary embolismM Margaglione
Unita di Aterosclerosi e Trombos, Istituto di Ricovera e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
Chest 118:1405-11. 2000..To investigate whether the FII A(20210) mutation is associated with isolated pulmonary embolism (PE)...
- Factor V Leiden and prothrombin gene mutation may predispose to paradoxical embolism in subjects with patent foramen ovaleVesa Karttunen
Department of Neurology, Oulu University Central Hospital, Box 25, FIN 90029 Oulu, Finland
Blood Coagul Fibrinolysis 14:261-8. 2003..140). Among the patients with prothrombotic states, Valsalva manoeuvre was common at onset of stroke. Our results support the possibility of paradoxical embolism behind strokes in patients with patent foramen ovale...
- Homocysteine lowering by B vitamins and the secondary prevention of deep vein thrombosis and pulmonary embolism: A randomized, placebo-controlled, double-blind trialMartin den Heijer
Department of Endocrinology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Blood 109:139-44. 2007..65-1.98) in the hyperhomocysteinemic group and 0.58 (95% CI, 0.31-1.07) in the normohomocysteinemic group. The results of our study do not show that homocysteine lowering by B vitamin supplementation prevents recurrent venous thrombosis...
- Pathophysiology of venous thrombosis, thrombophilia, and the diagnosis of deep vein thrombosis-pulmonary embolism in the elderlyGeno J Merli
Division of Internal Medicine, Jefferson Antithrombotic Therapy Service, Thomas Jefferson University Hospital, Jefferson Medical College, Philadelphia, PA 19107, USA
Clin Geriatr Med 22:75-92, viii-ix. 2006..The second clinical point is the appropriate need to evaluate elderly patients for primary or secondary thrombophilia. By using statistical probability and clinical history selected geriatric patients with VTE should be assessed ..
- Protein S and protein C gene mutations in Japanese deep vein thrombosis patientsSachiko Kinoshita
Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3 1 1 Maedashi Fukuoka 812 8582, Japan
Clin Biochem 38:908-15. 2005..Hitherto, the constitutional background of Japanese thrombotic patients has never been systematically examined. We have performed a systematic investigation to determine pathogenesis for deep vein thrombosis in a Japanese population...
- X-linked thrombophilia with a mutant factor IX (factor IX Padua)Paolo Simioni
Department of Cardiologic, Thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy
N Engl J Med 361:1671-5. 2009We report a case of juvenile thrombophilia associated with a substitution of leucine for arginine at position 338 (R338L) in the factor IX gene (factor IX-R338L)...
- Thrombophilia testing in patients with venous thromboembolism. Findings from the RIETE registryVanessa Roldan
Department of Haematology and Clinical Oncology, Universidad de Murcia, Spain
Thromb Res 124:174-7. 2009There is scarce information on the management habits with regard to thrombophilia testing in patients with venous thromboembolism (VTE).
- Genetic hypofibrinolysis in complicated pregnanciesC J Glueck
Cholesterol Center, Alliance Hospitals, Cincinnati, Ohio 45229, USA
Obstet Gynecol 97:44-8. 2001..To assess the hypofibrinolytic 4G/4G mutation of the plasminogen activator inhibitor (PAI-1) gene as a possible factor contributing to severe preeclampsia, abruptio placentae, fetal growth restriction, and stillbirth...
- Pregnancy loss, polycystic ovary syndrome, thrombophilia, hypofibrinolysis, enoxaparin, metforminCharles J Glueck
Cholesterol Center, Jewish Hospital, Cincinnati, Ohio, USA
Clin Appl Thromb Hemost 10:323-34. 2004b>Thrombophilia, hypofibrinolysis, and polycystic ovary syndrome (PCOS) are associated with recurrent pregnancy loss (RPL) and spontaneous abortion (SAB) alone and concurrently...
- Hypercoagulability in patients undergoing coronary artery bypass grafting: prevalence, patient characteristics and postoperative outcomeSulman Rafiq
Department of Cardiothoracic Surgery, The Heart Centre, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
Eur J Cardiothorac Surg 41:550-5. 2012....
- Thrombophilia testing in patients with venous thrombosisJ A Caprini
Department of Surgery, Evanston Northwestern Healthcare, Evanston, IL 60201, USA
Eur J Vasc Endovasc Surg 30:550-5. 2005Routine thrombophilia testing is controversial because of the low yield of positive tests, costs involved, and debate about the clinical usefulness of the data obtained from testing...
- Prevalence of inherited thrombophilia in young thrombosis patients from the East Bohemian regionP Dulícuek
Department of Hematology, University Hospital, Hradec Kralove, Czech Republic
Blood Coagul Fibrinolysis 13:569-73. 2002..Inherited thrombophilia may result in a hypercoagulable state that causes an increased tendency to thrombosis...
- The presence of anti-phosphatidylserine/prothrombin antibodies as risk factor for both arterial and venous thrombosis in patients with systemic lupus erythematosusJunzo Nojima
Laboratory for Clinical Investigation, Osaka University Hospital, Suita, Osaka 565 0871, Japan
Haematologica 91:699-702. 2006..Furthermore, results of the anti-PS/PT-ELISA correlate best with the occurrence of both arterial and venous thrombosis in patients with SLE...
- Hemodialysis, erythropoietin and megakaryocytopoiesis: factors in uremic thrombocytopathy and thrombophiliaJ J Zwaginga
Department of Hematology, Academical Medical Center, Department of Experimental Immunohematology, Sanquin Research at CLB, Amsterdam, The Netherlands
J Thromb Haemost 2:1272-4. 2004
- Thrombophilia and the risk of thromboembolic events in women on oral contraceptives and hormone replacement therapyMaria T Desancho
Division of Hematology and Medical Oncology, Department of Medicine, Weill Medical College of Cornell University, New York Presbyterian Hospital Cornell Medical Center, 525 East 68th Street, New York, NY 10021, USA
Blood Coagul Fibrinolysis 21:534-8. 2010b>Thrombophilia contributes to the risk of thrombosis in women using female hormones...
- Embryo implantation after assisted reproductive procedures and maternal thrombophiliaIda Martinelli
A Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, University of Milano, Via Pace, 9, 20122 Milano, Italy
Haematologica 88:789-93. 2003..of failure of embryo implantation might be an impairment of the uteroplacental circulation due to hypercoagulability in the mother, we investigated the association between thrombophilia and failure to achieve pregnancy after IVF or ICSI.
- Are genetic tests exceptional? Lessons from a qualitative study on thrombophiliaPaula M Saukko
ESRC Centre for Genomics in Society, School of Humanities and Social Sciences, University of Exeter, Exeter, UK
Soc Sci Med 63:1947-59. 2006..of participants, who were often less educated or at a high risk, were distressed and/or confused about thrombophilia and thought pre-test counselling would have been helpful...
- Pre-eclampsia and inherited thrombophilia: a reappraisalWerner Rath
Department of Obstetrics and Gynaecology, Faculty of Medicine, University Hospital Aachen, Aachen, Germany
Semin Thromb Hemost 37:118-24. 2011Pre-eclampsia (P-EC) is a major cause of maternal and fetal morbidity and mortality. Inherited thrombophilia has been suggested to increase the risk of P-EC or may accelerate the pathophysiological process...
- A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohortN J Beauchamp
Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
Thromb Haemost 79:1086-91. 1998In the course of investigating the molecular basis of protein S deficiency in 31 index cases with thrombophilia, we identified seven kindred where the underlying defect was a novel A to G transition 9 bp upstream of exon 12 in intron K ..
- Platelet-mediated microvascular inflammation and thrombosis in thrombocythemia vera: a distinct aspirin-responsive arterial thrombophilia, which transforms into a bleeding diathesis at increasing platelet countsJ J Michiels
Hemostasis, Thrombosis and Vascular Research, Department of Hematology, University Hospital, Antwerp, Belgium
Pathol Biol (Paris) 51:167-75. 2003....
- Prevalence rate for inherited thrombophilia in patients with chronic and recurrent venous leg ulcerationAdam Wiszniewski
Department of Vascular Surgery, Institute of Haematology and Transfusion Medicine, Warsaw, Poland
Wound Repair Regen 19:552-8. 2011The aim of the study was to determine the prevalence rate for inherited thrombophilia (IT) in patients with chronic (CVU) and recurrent venous leg ulceration...
- Prevalence of thrombophilia and catheter-related thrombosis in cystic fibrosisMichael Barker
Department of Pediatrics, University Hospital, University of Technology Aachen, Aachen, Germany
Pediatr Pulmonol 39:156-61. 2005..It may thus be helpful to include a hemostatic evaluation in the clinical decision process for or against TIVAD insertion in eligible CF patients...
- D-dimer levels, constitutional thrombophilia, and venous thrombosis prediction: clinical aspects and implicationsM M Samama
University Hospital, Hotel Dieu, Paris, France
Semin Vasc Med 5:371-4. 2005..The measurement of D-dimer could be of clinical interest in patients with constitutional thrombophilia as there is no close relationship between the clinical expression and the genotype indicating the existence of ..
- Pregnancy and thrombophiliaMrinal M Patnaik
University of Minnesota, Department of Internal Medicine, Minneapolis, MN, USA
Expert Rev Cardiovasc Ther 5:753-65. 2007..The presence of hereditary or acquired causes of thrombophilia during pregnancy tilts the balance in favor of unwanted venous thromboembolism and adverse pregnancy outcomes ..
- Heritable thrombophilia-hypofibrinolysis and osteonecrosis of the femoral headCharles J Glueck
Cholesterol Center, Jewish Hospital, ABC Building, 3200 Burnet Avenue, Cincinnati, OH 45229, USA
Clin Orthop Relat Res 466:1034-40. 2008We hypothesized that inherited thrombophilia and hypofibrinolysis were risk factors for osteonecrosis of the femoral head...
- An imbalance of pro- vs anti-coagulation factors in plasma from patients with cirrhosisArmando Tripodi
Department of Internal Medicine and Medical Specialties, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milano, Italy
Gastroenterology 137:2105-11. 2009..We investigated whether plasma from cirrhotic patients has an imbalance of pro- vs anti-coagulation factors...
- [Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome]Robert Kasten
Schlossklinik Abtsee, Fachklinik für Venenleiden, Laufen
J Dtsch Dermatol Ges 3:623-6. 2005..is evidence that patients with Klinefelter's syndrome are prone to develop connective tissue diseases and thrombophilia as a result of low androgen levels...
- Unexplained fetal loss: the fetal side of thrombophiliaAndrea Luigi Tranquilli
Department of Clinical Sciences, Polytechnic University of Marche, Ancona, Italy
Fertil Steril 94:378-80. 2010....
- Thrombophilia and chronic venous ulcerationA W Bradbury
University Department of Vascular Surgery, Lincoln House Research Institute, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham, B9 5SS, U K
Eur J Vasc Endovasc Surg 24:97-104. 2002It is known that thrombophilia (TP) is a risk factor for deep venous thrombosis (DVT), and that DVT predisposes to chronic venous ulceration (CVU). However, the relationship between TP and CVU has not been well studied...
- Thrombophilia and avascular necrosis of femoral head in kidney allograft recipientsYakup Ekmekci
Department of Nephrology, Ankara University School of Medicine, Ibni Sina Hospital, 06100, Ankara, Turkey
Nephrol Dial Transplant 21:3555-8. 2006b>Thrombophilia has been implicated in the development of avascular necrosis (AVN) in various diseases...
- Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defectsSeyit Temel Ceyhan
Department of Obstetrics and Gynecology, Gulhane Military Medical Academy, Ankara, Turkey
Int J Gynaecol Obstet 101:188-9. 2008
- Recurrent miscarriage and thrombophilia: an updateKelly McNamee
Liverpool Women s NHS Foundation Trust, Liverpool, UK
Curr Opin Obstet Gynecol 24:229-34. 2012Acquired and inherited thrombophilia is an important research avenue in the recurrent miscarriage field. The optimum treatment for patients with recurrent miscarriage and a confirmed thrombophilia remains a contentious issue...
- Preeclampsia and its interaction with common variants in thrombophilia genesM P M De Maat
Department of Hematology, Erasmus Medical Center, Rotterdam, The Netherlands
J Thromb Haemost 2:1588-93. 2004..Polymorphisms in the thrombophilia genes [plasminogen activator inhibitor type 1 [PAI-1 -675(4G/5G)], thrombin activatable fibrinolysis inhibitor ..
- Role of family history in identifying women with thrombophilia and higher risk of venous thromboembolism during oral contraceptionBenilde Cosmi
Division of Angiology, Cardiovascular Department, Unità di Ricerca Clinica sulla Trombofilia Marino Golinelli, University Hospital S Orsola Malpighi, University of Bologna, Via Massarenti 9, 40138 Bologna, Italy
Arch Intern Med 163:1105-9. 2003..We evaluated the sensitivity and specificity of a family history of VTE to identify thrombophilia in women before OC and after venous thrombotic complications during OC.
- The optimal duration of secondary thromboprophylaxis in patients with venous thromboembolism. The importance of thrombophilia screeningPaul Alexander Kyrle
Division of Hematology and Hemostasis, Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria
Wien Med Wochenschr 155:17-21. 2005..The risk of recurrence is low in patients with venous thrombosis secondary to surgery or trauma. Routine thrombophilia screening is aimed at identifying patients who could benefit from extended anticoagulation...
- Thrombophilia and pre-eclampsiaMoniek P M de Maat
Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands
Semin Thromb Hemost 37:106-10. 2011..which an important extensively studied group is formed by the early recognizable genetic factors resulting in thrombophilia. The discussion is ongoing whether the associations found for thrombophilia are true and clinically relevant...
- Combination of thrombophilia markers in acute myocardial infarction of the youngAmit Khare
Institute of Immunohaematology I C M R, 13th Floor New Building, KEM Hospital, Parel, Mumbai 400 012, India
Indian J Med Sci 58:381-8. 2004..But, there have been very few studies in India which have investigated some of the thrombophilia markers.
- Polycystic ovarian syndrome and thrombophiliaG Tsanadis
Department of Obstetrics and Gynecology, University Hospital of Ioannina, Ioannina 45500, Greece
Hum Reprod 17:314-9. 2002..Since thrombophilic states correlate with high miscariage rates, as does PCOS, this study aimed at looking for thrombophilic predisposition in PCOS women compared with non-PCOS controls...
- Low-molecular-weight heparin added to aspirin in the prevention of recurrent early-onset pre-eclampsia in women with inheritable thrombophilia: the FRUIT-RCTJohanna I P De Vries
Department of Obstetrics and Gynaecology, VU University Medical Center, Amsterdam, The Netherlands
J Thromb Haemost 10:64-72. 2012..disorders (HD) of pregnancy and small-for-gestational age infants (SGA) are associated with placental vascular thrombosis, these often recur and are also associated with inheritable thrombophilia. Aspirin reduces the recurrence risk.
- Evaluation of the procoagulant activity in the plasma of cancer patients using a thrombin generation assayFrance Debaugnies
Laboratory of Hematology and Haemostasis, Universite Libre de Bruxelles, Centre Hospitalier Universitaire Brugmann, Brussels, Belgium
Thromb Res 126:531-5. 2010..The aim of our study is to assess the procoagulant activity, including microparticles' activity, in the plasma of newly diagnosed cancer patients with a simple assay, easy to implement in the laboratory...
- Living donor liver transplantation: usefulness of hemostatic and prothrombotic screening in potential donorsR Bustelos
Department of Hematology, Hospital 12 de Octubre, Madrid, Spain
Transplant Proc 41:3791-5. 2009..Although the cost-effectiveness is not definitely established, we recommend systematic screening for hemostatic and prothrombotic disorders to prevent more morbidity of a procedure that already has high risks of bleeding and thrombosis...
- Deep venous thrombosis caused by inferior vena cava atresia and hereditary thrombophiliaShelonitda S Rose
Division of Hematology, UMDNJ Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903, USA
Am J Med Sci 337:67-70. 2009..Patients with IVC atresia associated with hereditary thrombophilia are at increased risk for recurrent DVT and may require long-term anticoagulation...
- The Factor V Leiden mutation is associated with a higher blood haemoglobin concentration in women below 50 of the Malmö Thrombophilia Study (MATS)Nazim Isma
Malmö Centre for Thrombosis and Haemostasis, Malmo, Sweden
J Thromb Thrombolysis 28:255-8. 2009..1998 to December 2005, 927 consecutive patients with objectively diagnosed VTE were registered in the Malmö Thrombophilia Study (MATS)...
- Familial thrombophilia and retinal vein occlusionO Backhouse
Department of Ophthalmology, Bradford Royal Infirmary, UK
Eye (Lond) 14:13-7. 2000To perform a pilot study on the prevalence of familial thrombophilia in all cases of retinal vein occlusion with no known risk factors.
- Venous thromboembolism in young female while on oral contraceptives: high frequency of inherited thrombophilia and analysis of thrombotic events in 400 czech womenPetr Dulicek
Second Department of Internal Medicine Division of Hematology, University Hospital and Medical Faculty of Charles University, Hradec Kralove, Czech Republic
Clin Appl Thromb Hemost 15:567-73. 2009..The presence of inherited thrombophilia further increases this risk...
- Intrauterine upper limb ischemia associated with fetal thrombophilia: a case report and review of the literatureWadah M Khriesat
Department of Pediatrics, Jordan University of Science and Technology, Irbid, Jordan
Acta Haematol 124:1-4. 2010..We suggest investigating the neonates and their mothers for possible genetic prothrombotic risk factors when they present with intrauterine thrombosis as this issue is important for management and counseling...
- Management of thrombophilia in renal transplant patientsPaul E Morrissey
Department of Surgery, Rhode Island Hospital and Brown University, Providence, RI, USA
Am J Transplant 2:872-6. 2002Renal allograft recipients with thrombophilia (a hypercoagulable state) are at higher risk for early allograft loss...
- Selective thrombophilia screening of patients with nonarteritic anterior ischemic optic neuropathyClaudia Kuhli-Hattenbach
Klinik fur Augenheilkunde, Klinikum der Johann Wolfgang Goethe Universitat, Frankfurt am Main, Germany
Graefes Arch Clin Exp Ophthalmol 247:485-90. 2009..We sought to investigate the prevalence of various coagulation defects among NAION patients <65 years of age, and to provide clinical guidelines for a selective thrombophilia screening.
- Inherited thrombophilia and first venous thromboembolism during pregnancy and puerperiumIda Martinelli
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, University of Milan, Italy
Thromb Haemost 87:791-5. 2002..available on the actual risk of venous thromboembolism during pregnancy or puerperium in women with inherited thrombophilia, particularly in carriers of factor V Leiden and of the G20210A prothrombin gene mutation...
- Thrombophilia and adverse maternal-perinatal outcomeCaroline L Stella
University of Cincinnati College of Medicine, Division of Maternal Fetal Medicine, Cincinnati, Ohio 45267 0526, USA
Clin Obstet Gynecol 49:850-60. 2006A recent review of the literature on thrombophilia and adverse pregnancy outcome (APO) reveals contradictory findings. We have limited our review of literature mostly to the most recent decade...
- Thrombophilia in pregnancyI D Walker
Haematology Department, Glasgow Royal Infirmary, UK
J Clin Pathol 53:573-80. 2000b>Thrombophilia can be defined as a predisposition to thrombosis...
- Thrombophilia: an updateSaskia Middeldorp
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
Semin Thromb Hemost 33:563-72. 2007
- Factor V Leiden and prothrombin G20210A mutations in young adults with cryptogenic ischemic strokeJusto Aznar
La Fe University Hospital, Department of Clinical Pathology, Avd Campanar 21, 46009 Valencia, Spain
Thromb Haemost 91:1031-4. 2004..OC use is also a significant risk factor for cryptogenic stroke, which is increased in women with some genetic thrombotic risk factor...
- Hereditary thrombophilia and fetal loss: a prospective follow-up studyC Y Vossen
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
J Thromb Haemost 2:592-6. 2004As the placental vessels are dependent on the normal balance of procoagulant and anticoagulant mechanisms, inherited thrombophilia may be associated with fetal loss.
- Thrombophilia-related genetic variations in patients with pulmonary embolism in the main teaching hospital in JordanNathir M Obeidat
Department of Internal Medicine, Critical Care and Sleep Medicine, Jordan University Hospital, Amman 11942, Jordan
Saudi Med J 30:921-5. 2009....
- Current practise of testing for inherited thrombophiliaM Coppens
J Thromb Haemost 5:1979-81. 2007
- How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic reviewZarko Alfirevic
Liverpool Women s Hospital, Crown Street, Liverpool L8 7SS, UK
Eur J Obstet Gynecol Reprod Biol 101:6-14. 2002..To determine whether inherited and acquired thrombophilias are associated with adverse obstetric complications...
- Attitudes toward genetic testing for thrombophilia in asymptomatic members of a large family with heritable protein C deficiencyI M van Korlaar
Unit of Psychology, Leiden University Medical Center, Leiden, The Netherlands
J Thromb Haemost 3:2437-44. 2005..Little research has been performed regarding the psychological consequences of knowing that one is at an increased risk for venous thrombosis...
- Thrombophilia and venous thromboembolism: implications for testingDanny M Cohn
Academic Medical Center, Department of Vascular Medicine, Amsterdam, The Netherlands
Semin Thromb Hemost 33:573-81. 2007..This has led to widespread testing for thrombophilia, despite the fact that, at present, it is unclear whether this should have therapeutic consequences...
- NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSISEdwin Naylor; Fiscal Year: 2002..Alpha-1-Antitrypsin Deficiency Z allele (G9989a) and S allele (A7677T); 4). Hereditary Thrombophilia (Factor V Leiden G1691A, Prothrombin G20210A, Methylenetetrahydrofolate reductase C677T); 5)...
- MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISMBruce Psaty; Fiscal Year: 2001..Abstract) Epidemiologic studies have identified Factor V Leiden as the most common cause of heritable thrombophilia a prothrombotic mutation associated with a 5 to 7-fold increase in the risk of venous thromboembolism (VTE)...
- Structural Mechanisms for the Inhibition of ThrombosisJAMES HUNTINGTON; Fiscal Year: 2004..Such an understanding will help explain dysfunction which leads to familial thrombophilia and aid in the development of novel therapeutic antithrombotic agents...
- THROMBOMODULIN FUNCTION IN CELLULAR PHYSIOLOGYHartmut Weiler; Fiscal Year: 2007..is the delineation of novel pathogenic mechanisms underlying adverse pregnancy outcome associated with thrombophilia. Our work in the context of the parent proposal to study the function of the blood clotting regulator ..
- Genetic Variation in Factor IX and Thrombosis RiskLaura Almasy; Fiscal Year: 2006..Recent discoveries from the Genetics Analysis of Idiopathic Thrombophilia (GAIT) Project demonstrate that: 1) the population variation in thrombosis risk has a high heritability (h2), ..
- IDENTIFICATION & TREATMENT OF OSTEONECROSIS OF THE HIPRoy Aaron; Fiscal Year: 2003..Aim 2 will determine, in the populations of at-risk individuals, whether or not inherited hypofibrinolysis and thrombophilia constitute a genetic predisposition to osteonecrosis...
- THROMBIN SIGNALING IN HEMOSTASIS AND THROMBOSISShaun Coughlin; Fiscal Year: 2004..The applicants will use mice bearing gain-of-function mutations in PAR4 to determine if such GPCR mutations, alone or in combination with mutations in other genes, might be a basis for thrombophilia.
- Gene Targets for Intraventricular Hemorrhage (IVH)Laura Ment; Fiscal Year: 2009..suggest familial susceptibility for IVH in VLBW twins, and several studies have investigated the role of thrombophilia, inflammatory and vascular genes in the genesis of Gr 3 - 4 IVH...
- Gene Targets for Intraventricular Hemorrhage (IVH)Laura Ment; Fiscal Year: 2007..suggest familial susceptibility for IVH in VLBW twins, and several studies have investigated the role of thrombophilia, inflammatory and vascular genes in the genesis of Gr 3 - 4 IVH...
- IMPROVED METHODS FOR IN VIVO HEPATIC GENE THERAPYKATHERINE PONDER; Fiscal Year: 2001..permantly correct metabolic disorders such as ornithine transcarbamylase deficiencies such as hemophilia or thrombophilia. We have recently demonstrated that stable and therapeutic levels of expression of two plasma proteins can be ..
- Clinical Investigation in Pediatric ThrombosisNeil Goldenberg; Fiscal Year: 2007..subspecialists who have gained expertise through formal mentored training in both the field of thrombosis/ thrombophilia and the discipline of clinical investigation is limited, and many of these individuals are senior in their ..
- FACTOR V GENE DEFECTS IN THROMBOPHILIAWILLIAM KANE; Fiscal Year: 2001..This information will provide important insights into the pathophysiology of APC resistance and thrombosis and may ultimately lead to novel strategies for antithrombotic therapy. ..
- Regulation of transcription termination and its link in mRNA surveillanceChi Ming Wong; Fiscal Year: 2011..surprising that transcription termination defects are causally associated with various human diseases, such as thrombophilia, thalassemia and cancer...
- Gene Targets for Intraventricular Hemorrhage (IVH)Laura R Ment; Fiscal Year: 2010..suggest familial susceptibility for IVH in VLBW twins, and several studies have investigated the role of thrombophilia, inflammatory and vascular genes in the genesis of Gr 3 - 4 IVH...