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Journal articles on the topic 'Thrombophilia'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Gogia, Navneet, and Geoffrey A. Machin. "Maternal Thrombophilias Are Associated with Specific Placental Lesions." Pediatric and Developmental Pathology 11, no. 6 (2008): 424–29. http://dx.doi.org/10.2350/07-09-0345.1.

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Maternal floor infarction (MFI), massive perivillous fibrin deposition (MPVFD), and fetal thrombotic vasculopathy (FTV) are specific placental lesions with associations to recurrent adverse fetal outcomes and with maternal thrombophilia. We studied the frequency of a range of acquired and genetic maternal thrombophilias in MFI (40 cases), MPVFD (87 cases), FTV (7 cases), and FTV+MPVFD (4 cases). Thrombophilias were identified in 16 (40%), 20 (23%), 5 (71%), and 2 (50%) of these lesions, respectively. Seventy-seven percent of the identified thrombophilias were genetic, and 23% were acquired. Th

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Salehi Omran, Setareh, Adam Hartman, Neil A. Zakai, and Babak B. Navi. "Thrombophilia Testing After Ischemic Stroke." Stroke 52, no. 5 (2021): 1874–84. http://dx.doi.org/10.1161/strokeaha.120.032360.

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Thrombophilia testing is frequently performed after an ischemic stroke, particularly when cryptogenic. However, there is minimal evidence supporting a significant association between most conditions assessed through thrombophilia testing and ischemic stroke, and the rationale for thrombophilia testing in many clinical situations remains uncertain. In this topical review, we review and contextualize the existing data on the risks, predictors, and outcomes of thrombophilic conditions in patients with ischemic stroke. We report that inherited thrombophilias have an uncertain relationship with isc

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3

Lindhoff-Last and Luxembourg. "Evidence-based indications for thrombophilia screening." Vasa 37, no. 1 (2008): 19–30. http://dx.doi.org/10.1024/0301-1526.37.1.19.

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Thrombophilic defects have been shown to be associated with an increased risk of venous thrombosis, fetal loss, and gestational complications. The knowledge about the clinical relevance of thrombophilic defects is increasing, and evidence-based indications for thrombophilia screening are therefore discussed in this review. Selective thrombophilia screening based on previous personal and/or family history of venous thromboembolism is more cost-effective than universal screening in all patient groups evaluated. In the majority of patients with acute venous thrombosis, the results of thrombophili

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Glueck, C. J., Naila Goldenberg, Howard Bell, Karl Golnik, and Ping Wang. "Amaurosis Fugax: Associations with Heritable Thrombophilia." Clinical and Applied Thrombosis/Hemostasis 11, no. 3 (2005): 235–41. http://dx.doi.org/10.1177/107602960501100301.

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The aim of this study was to prospectively assess associations between amaurosis fugax, inherited thrombophilia, and acquired thrombophilia. Thrombophilia and hypofibrinolysis were studied in 11 cases (eight women, three men; all white) with amaurosis fugax, 57 ± 17 years old, selected by the absence of abnormal brain magnetic resonance imaging (MRI), magnetic resonance angiography (MRA), magnetic resonance venography (MRV), ipsilateral internal carotid artery plaque, atrial fibrillation, or cardiac thrombus. Cases were compared to 78 healthy adult white controls (53 ± 18 years old) for serolo

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Fontaine, Robert, Ping Wang, and Charles Glueck. "Interaction of Heritable and Estrogen-induced Thrombophilia: Possible Etiologies for Ischemic Optic Neuropathy and Ischemic Stroke." Thrombosis and Haemostasis 85, no. 02 (2001): 256–59. http://dx.doi.org/10.1055/s-0037-1615698.

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SummaryOur specific aim was to assess how thrombophilic exogenous estrogens interacted with heritable thrombophilias leading to nonarteritic ischemic optic neuropathy (NAION) and ischemic stroke. Coagulation measures were performed in a 74 year old patient and her immediate family. The proband had a 47 year history of 9 previous thrombotic episodes, and developed unilateral NAION 4 years after starting estrogen replacement therapy (ERT). The proband was heterozygous for two thrombophilic gene mutations (G20210A prothrombin gene, platelet glycoprotein IIIa PlA1/A2 polymorphism), and homozygous

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Moran, Jason, and Kenneth A. Bauer. "Managing thromboembolic risk in patients with hereditary and acquired thrombophilias." Blood 135, no. 5 (2020): 344–50. http://dx.doi.org/10.1182/blood.2019000917.

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Abstract While we are now able to diagnose inherited thrombophilias in a substantial number of patients with venous thromboembolism (VTE), the initial hope that their presence would inform recurrence risk and thus decisions on anticoagulation duration has largely been disappointing. Indeed, the presence or absence of transient provoking risk factors has proven to be the most important determinant of VTE recurrence risk. Thus, particular attention to transient acquired risk factors for VTE remains paramount, as they have generally been shown to carry more prognostic weight than inherited thromb

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LaHue, Sara C., Helen Kim, Ludmila Pawlikowska, et al. "Frequency and characteristics associated with inherited thrombophilia in patients with intracranial dural arteriovenous fistula." Journal of Neurosurgery 130, no. 4 (2019): 1346–50. http://dx.doi.org/10.3171/2017.10.jns171987.

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OBJECTIVEThe pathogenesis of dural arteriovenous fistulas (DAVFs) remains poorly defined. Prior studies on thrombophilia as a risk factor for DAVF development are limited by small sample sizes and poor generalizability.METHODSIn this longitudinal observational study, all patients with intracranial DAVFs evaluated at the University of California, San Francisco from December 1994 through April 2014 were identified. After obtaining patient consent, 3 thrombophilic mutations, factor V Leiden (rs6025), MTHFR (rs1801133), and prothrombin G20210A, were genotyped. The authors evaluated the association

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Waldman, Dalia, Aharon Lubetsky, Nurit Kornbrut, et al. "Paediatric cerebral sinus vein thrombosis." Thrombosis and Haemostasis 92, no. 10 (2004): 713–18. http://dx.doi.org/10.1160/th04-03-0182.

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SummaryThe etiology and pathophysiology of cerebral sinus venous thrombosis (CSVT) in the paediatric population is still poorly understood, and the role of thrombophilic risk factors remains to be elucidated. In our multi-center case-controlled study we studied 46 patients with CSVT diagnosed from April 1996 to December 2003, consecutively referred for thrombophilia work-up. The results of thrombophilia screen were compared to 112 healthy paediatric controls. Anticoagulant therapy was applied according to treating physicians’ decisions, and all cases were prospectively followed for a median of

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9

Stefanski, Ana-Luisa, Christoph Specker, Rebecca Fischer-Betz, Wolfgang Henrich, Ekkehard Schleussner, and Thomas Dörner. "Maternal Thrombophilia and Recurrent Miscarriage – Is There Evidence That Heparin is Indicated as Prophylaxis against Recurrence?" Geburtshilfe und Frauenheilkunde 78, no. 03 (2018): 274–82. http://dx.doi.org/10.1055/s-0044-100919.

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Abstract Background Recurrent miscarriage, also referred to as recurrent spontaneous abortion (RSA), affects 1 – 5% of couples and has a multifactorial genesis. Acquired and congenital thrombophilia have been discussed as hemostatic risk factors in the pathogenesis of RSA. Method This review article was based on a selective search of the literature in PubMed. There was a special focus on the current body of evidence studying the association between RSA and antiphospholipid syndrome and hereditary thrombophilia disorders. Results Antiphospholipid syndrome (APS) is an acquired autoimmune thrombo

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Paidas, Michael, Edmund Funai, Edward Kuczynski, Charles Lockwood, and Henry Roqué. "Maternal thrombophilias are not associated with early pregnancy loss." Thrombosis and Haemostasis 91, no. 02 (2004): 290–95. http://dx.doi.org/10.1160/th03-09-0596.

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SummaryWe investigated the association between inherited and acquired maternal thrombophilias and adverse pregnancy events. A cohort of 491 patients with a history of adverse pregnancy outcomes was evaluated for activated protein C resistance, factor V Leiden and prothrombin G20210A mutations, hyperhomocysteinemia, deficiencies of antithrombin, protein C and S and both anticardiolipin antibodies and lupus anticoagulants. The study had an 80% power to detect a 15% difference in the prevalence of thrombophilia for 1st trimester loss. In our high-risk cohort the presence of 1 maternal thrombophil

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Park, Junghyun, and Marc Rodger. "Retrospective Cohort of Unprovoked Venous Thromboembolism Patients: What Proportion Have Potent Thrombophilias Necessitating Indefinite Anticoagulants?" Blood 126, no. 23 (2015): 2318. http://dx.doi.org/10.1182/blood.v126.23.2318.2318.

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Introduction Thrombophilia testing in unprovoked venous thromboembolism patients (VTE) is controversial. Common thrombophilias such as Factor V Leiden or prothrombin gene variant appear to not importantly increase the risk of VTE recurrence, and thus are not considered in anticoagulation management decisions. However, patients with potent thrombophilias such as antiphospholipid antibodies (APLA), antithrombin deficiency, protein C and S deficiency, and homozygous genetic thrombophilias or combined defects are at higher risk of recurrence and it is recommended that they receive long-term antico

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Murvai, Viorela-Romina, Radu Galiș, Cristina-Maria Macrea, et al. "The Impact of Thrombophilia on Maternal and Neonatal Outcomes: A Multisystem Analysis of Clinical, Hematological, and Metabolic Parameters." Journal of Clinical Medicine 14, no. 11 (2025): 3665. https://doi.org/10.3390/jcm14113665.

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Background: Thrombophilia is a prothrombotic disorder that can affect pregnancy outcomes, potentially leading to maternal complications, fetal growth restriction, and adverse perinatal events. However, the precise relationship between thrombophilia and these outcomes remains under investigation, and the impact of hematological, renal, hepatic, and coagulation alterations in thrombophilic pregnancies is not yet fully understood. This study aims to examine the maternal and neonatal consequences of thrombophilia by analyzing key laboratory parameters and perinatal outcomes in affected pregnancies

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Gaddh, Manila, and Rachel P. Rosovsky. "Venous Thromboembolism: Genetics and Thrombophilias." Seminars in Respiratory and Critical Care Medicine 42, no. 02 (2021): 271–83. http://dx.doi.org/10.1055/s-0041-1723937.

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AbstractVenous thromboembolism (VTE) is a major cause of morbidity and mortality throughout the world. Up to one half of patients who present with VTE will have an underlying thrombophilic defect. This knowledge has led to a widespread practice of testing for such defects in patients who develop VTE. However, identifying a hereditary thrombophilia by itself does not necessarily change outcomes or dictate therapy. Furthermore, family history of VTE by itself can increase an asymptomatic person's VTE risk several-fold, independent of detecting a known inherited thrombophilia. In this article, we

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Heidenreich, S., C. Dercken, C. August, H. G. Koch, and U. Nowak-Göttl. "High rate of acute rejections in renal allograft recipients with thrombophilic risk factors." Journal of the American Society of Nephrology 9, no. 7 (1998): 1309–13. http://dx.doi.org/10.1681/asn.v971309.

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Inherited and acquired thrombophilic disorders predispose patients for thromboembolic and probably other occlusive vascular events that occur when additional risk factors play in concert. Because acute rejections in renal transplant recipients may reflect vascular events, and an impairment of the fibrinolytic system in immunosuppressed patients has been previously described, the implications of genetic or acquired risk factors of thrombophilia for the occurrence of early acute rejections after kidney transplantation were evaluated. The following risk factors of thrombophilia were determined in

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Bruce, CT, SG Dixon, CJ Glueck, P. Wang, and RK Hutchins. "ID: 41: THROMBOTIC RAMIFICATIONS OF OPHTHALMOLOGIC DIAGNOSIS OF FAMILIAL AND ACQUIRED THROMBOPHILIA AS PATHOETIOLOGY FOR OTHERWISE UNEXPLAINED UVEITIS." Journal of Investigative Medicine 64, no. 4 (2016): 945.2–946. http://dx.doi.org/10.1136/jim-2016-000120.67.

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PurposeThe diagnosis of uveitis prompts investigation into a long list of infectious, systemic autoimmune, and primary ocular conditions. Familial and acquired thrombophilia are rarely considered in the assessment of the pathoetiology of uveitis. We assessed three patients with uveitis who were referred to a thrombosis center by their retinologists-ophthalmologists after the search for an etiology among the common causes of uveitis did not yield a diagnosis, who were subsequently found to have familial thrombophilia and extra-ocular thrombotic events.MethodsWe prospectively measured familial a

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Klamroth, Robert, Marija Orlovic, Ilona Fritsche, et al. "The influence of thrombophilic risk factors on vascular access survival in chronic dialysis patients in a retrospective evaluation." Vasa 42, no. 1 (2013): 32–39. http://dx.doi.org/10.1024/0301-1526/a000245.

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Background: Vascular access by dialysis graft or fistula is of major importance for hemodialysis treatment. Vascular access occlusion is one main reason for hospitalization of patients on hemodialysis. Thrombophilic risk factors are discussed as one cause for occlusion. The aim of this study was to determine if the presence of thrombophilic factors is associated with a reduced survival rate of vascular dialysis access. Patients and methods: The following thrombophilic parameters were measured in every hemodialysis patient from five outpatient dialysis centers in Berlin: antithrombin, protein C

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Pristov, Jelena Bogdanovic, Ivan Spasojevic, Željko Mikovic, Vesna Mandic, Nikola Cerovic, and Mihajlo Spasic. "Antioxidative Defense Enzymes in Placenta Protect Placenta and Fetus in Inherited Thrombophilia from Hydrogen Peroxide." Oxidative Medicine and Cellular Longevity 2, no. 1 (2009): 14–18. http://dx.doi.org/10.4161/oxim.2.1.7705.

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Our aim was to investigate the activities of antioxidative defense enzymes in the placenta, fetal blood and amnion fluid in inherited thrombophilia. Thrombophilia was associated with nearly threefold increase of activity (p < 0.001) of the placental catalase (81.1 ± 20.6 U/mg of proteins in controls and 270.0 ± 69.9 U/mg in thrombophilic subjects), glutathione (GSH) peroxidase (C: 20.2 ± 10.1 U/mg; T: 60.0 ± 15.5 U/mg), and GSH reductase (C: 28.9 ± 5.6 U/mg; T: 72.7 ± 23.0 U/mg). The placental activities of superoxide dismutating enzymes—MnSOD and CuZnSOD, did not differ in controls and thr

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Samfireag, Miruna, Ovidiu Potre, Cristina Potre, et al. "Maternal and Newborn Characteristics—A Comparison between Healthy and Thrombophilic Pregnancy." Life 13, no. 10 (2023): 2082. http://dx.doi.org/10.3390/life13102082.

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A thrombophilic woman is more likely to experience difficulties during pregnancy, difficulties that will also affect the development of the newborn. This study aims to compare maternal and newborn characteristics between healthy and thrombophilic pregnancy. The following characteristics were analysed: maternal characteristics (BMI- body mass index, haemostasis parameters, thrombophilia-specific treatment) and newborn characteristics (gestational period, birth weight, the Apgar score). This follow-up study spanning five years, from 2018 to 2022, focuses on a cohort of 500 women who underwent de

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Franchini, Massimo, Ida Martinelli, and Pier Mannuccio Mannucci. "Uncertain thrombophilia markers." Thrombosis and Haemostasis 115, no. 01 (2016): 25–30. http://dx.doi.org/10.1160/th15-06-0478.

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SummaryThe development of venous thromboembolism (VTE), which includes deep-vein thrombosis and pulmonary embolism, may be associated with inherited or acquired risk factors that can be measured in plasma or DNA testing. The main inherited thrombophilias include the plasma deficiencies of the natural anticoagulants antithrombin, protein C and S; the gain-of-function mutations factor V Leiden and prothrombin G20210A; some dysfibrinogenaemias and high plasma levels of coagulation factor VIII. Besides these established biomarkers, which usually represent the first-level laboratory tests for throm

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Sahay, Ravindranath, Priya Bhate, and Nikhil A. Borikar. "Inherited thrombophilia in young Indian adults presenting with thrombotic vascular events." International Journal of Research in Medical Sciences 5, no. 4 (2017): 1193. http://dx.doi.org/10.18203/2320-6012.ijrms20170969.

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Background: There is limited Indian data available regarding inherited thrombophilias. This study was to determine the prevalence of inherited thrombophilias in young Indian patients presenting with thrombotic events.Methods: This study was done at a tertiary hospital in Western India over a period of 20 months. Epidemiological, clinical and laboratory data was recorded of all consecutive patients aged 16 to 45 admitted with arterial and venous thrombotic vascular events. Blood samples for the thrombophilia profile were sent. Data was tabulated and analyzed using microsoft excel and graph pad

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Cardona, Henry, Serguei A. Castañeda, Wálter Cardona Maya, et al. "Lack of Association between Recurrent Pregnancy Loss and Inherited Thrombophilia in a Group of Colombian Patients." Thrombosis 2012 (April 11, 2012): 1–6. http://dx.doi.org/10.1155/2012/367823.

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Studies have shown an association between recurrent pregnancy loss and inherited thrombophilia in Caucasian populations, but there is insufficient knowledge concerning triethnic populations such as the Colombian. The aim of this study was to evaluate whether inherited thrombophilia is associated with recurrent pregnancy loss. Methods. We conducted a case-control study of 93 patients with recurrent pregnancy loss (cases) and 206 healthy multiparous women (controls) in a Colombian subpopulation. Three single nucleotide polymorphisms (SNPs) markers of the inherited thrombophilias factor V Leiden,

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Makris, Mike, and Deepa Arachchillage. "Inherited Thrombophilia and Pregnancy Complications: Should We Test?" Seminars in Thrombosis and Hemostasis 45, no. 01 (2018): 050–60. http://dx.doi.org/10.1055/s-0038-1657782.

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AbstractRecurrent miscarriages and pregnancy-related complications cause significant stress to couples looking for successful pregnancy outcome as well as to health care professionals. There is conflicting evidence with respect to the presence and the strength of associations between inherited thrombophilia and these complications. A complete thrombophilia screen is expensive, and no proven effective treatment for women with recurrent miscarriage and inherited thrombophilia is currently available. Based on the concept of microvascular thrombosis of the placenta, women with recurrent miscarriag

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Raslan, Omar, Christopher Tran, Fatimah Al-Ani, Luciano Sposato, and Alejandro Lazo-Langner. "Prevalence of Thrombophilia in Transient Ischemic Attack and Ischemic Stroke Patients." Blood 136, Supplement 1 (2020): 3. http://dx.doi.org/10.1182/blood-2020-133476.

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Introduction. Screening for inherited thrombophilia has been recommended in patients with cryptogenic ischemic strokes and anticoagulant therapy is frequently indicated based on these results. However, current evidence suggests that thrombophilia screening is over utilized in stroke patients and may provide more risks than benefits. Patients and Methods.We conducted a retrospective cohort study in patients with transient ischemic attack (TIA) or ischemic stroke who had a thrombophilia screen and determined the proportions of each thrombophilia trait, and the proportion of high risk thrombophil

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Gaddh, Manila, En Cheng, Maha A. T. Elsebaie, and Imre Bodó. "Clinical Utilization and Cost of Thrombophilia Testing in Patients with Venous Thromboembolism." TH Open 04, no. 03 (2020): e153-e162. http://dx.doi.org/10.1055/s-0040-1714334.

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Abstract Introduction Testing for inherited and acquired thrombophilias adds to the cost of care of patients with venous thromboembolism (VTE), though results may not influence patient management. Methods This is a single-center, retrospective study conducted at Emory University Hospitals from January to December 2015 to (1) determine the pattern of thrombophilia testing in patients with VTE, (2) study the impact of results of thrombophilia testing on clinical decision-making, and (3) determine the direct costs of thrombophilia testing in patients with VTE. Results Of the 266 eligible patients

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Carroll, Brett J., and Gregory Piazza. "Hypercoagulable states in arterial and venous thrombosis: When, how, and who to test?" Vascular Medicine 23, no. 4 (2018): 388–99. http://dx.doi.org/10.1177/1358863x18755927.

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Evaluation for underlying hypercoagulable states in patients with thrombosis is a frequent clinical conundrum. Testing for thrombophilias is often reflexively performed without strategic approach nor clear appreciation of the clinical implications of such results. Guidelines vary in the appropriate utilization of thrombophilia testing. In this review, we discuss the more commonly encountered inherited and acquired thrombophilias, their association with initial and recurrent venous thromboembolism, arterial thromboembolism, and role in women’s health. We suggest an approach to thrombophilia tes

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Baymuradova, Seda M., and E. V. Slukhanchuk. "DISABILITY OF PREGNANCY IN PATIENTS WITH “NON-CRITERIA” FACTORS PREDISPOSING TO THE DEVELOPMENT OF THROMBOPHILIA: A MODERN VIEW ON THE PROBLEM." V.F.Snegirev Archives of Obstetrics and Gynecology 5, no. 4 (2018): 202–7. http://dx.doi.org/10.18821/2313-8726-2018-5-4-202-207.

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Many practitioners in our country diagnose thrombophilia when detecting thrombogenic mutations, as well as antiphospholipid antibodies. At the same time, there is a rejection of thrombophilia in the genesis of obstetric complications, and its overdiagnosis in healthy women. The incidence of polymorphisms and mutations included in the classification of thrombophilia (the so-called “criterion” forms) among patients with obstetric complications is low. The frequency of hypercoagulable states in patients with obstetric complications is much higher, and their use of pathogenetic therapy leads to a

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Hornsby, Lori B., Emily M. Armstrong, Jessica M. Bellone, Sarah Treadway, and Haley M. Phillippe. "Thrombophilia Screening." Journal of Pharmacy Practice 27, no. 3 (2014): 253–59. http://dx.doi.org/10.1177/0897190014530426.

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Although controversial, screening for thrombophilia has become common. Testing for antiphospholipid antibodies is indicated in order to guide treatment decisions if there is clinical suspicion for antiphospholipid syndrome. The utility of identifying other thrombophilias in symptomatic venous thromboembolism (VTE) is questionable, as the risk of recurrence does not appear to be increased by an appreciable degree with the most common disorders (heterozygosity for factor V Leiden or prothrombin mutation). Although recurrence appears to be increased in those with homozygous or multiple abnormalit

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Krotin, Mirjana, Marija Zdravkovic, Danica Popovic-Lisulov, et al. "Double-trouble: An unusual case of two simultaneous arterial thromboses in thrombophilia." Open Medicine 7, no. 1 (2012): 91–94. http://dx.doi.org/10.2478/s11536-011-0110-5.

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AbstractMultiple arterial and venous thromboses are usually related to thrombophilia or antiphospholipid syndrome. Recurrent pulmonary embolism strongly indicates the presence of genetic or acquired thrombophilic factors. Simultaneous double arterial in situ thromboses are unusual, even in thrombophilic conditions. Simultaneous occurrence of pulmonary embolism and cerebrovascular ischaemic insult are highly indicative of existence of patent foramen ovale. We present herein a patient with the double simultaneous arterial thromboses as the manifestation of thrombophilia (heterozygous for methyle

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Behzad, Poopak, Hamid Rezvani, Majid Farshdousti Hagh, et al. "Thrombophilic Mutations in Iranian Patients With Thrombophilia." Laboratory Medicine 44, no. 1 (2013): e62-e68. http://dx.doi.org/10.1309/lmb2hvr9nuqk6wio.

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Levente, Túrós János, Kiss Szilárd-Leó, Bereczky Lujza-Katalin, et al. "The prognostic role of thrombophilia in the treatment of infertility." Bulletin of Medical Sciences 91, no. 1 (2018): 42–49. http://dx.doi.org/10.2478/orvtudert-2018-0004.

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Abstract Thrombophilia refers to a coagulation disorder that predisposes to thrombosis and thus increases the risk of thrombotic events. Both inherited and acquired thrombophilia are associated with vascular thrombosis and pregnancy-related complications, including infertility, recurrent miscarriage, and premature birth. Recently, thrombophilia has been increasingly encountered as an infertility factor, which gives the clinical relevance of the disease. The aim of the study was to investigate the prognostic role of thrombophilia in the treatment of infertility and the pregnancy of thrombophili

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Pranger, Delphine, Veronique Deneys, Corinne Hubinont, et al. "Relationship between Uteroplacental Blood Flow snd Thrombophilia in Women eith Late Complicated Pregnancies." Blood 104, no. 11 (2004): 4016. http://dx.doi.org/10.1182/blood.v104.11.4016.4016.

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Abstract There is a growing body of evidence that thrombophilia is linked to several obstetrical complications, most likely through uteroplacental vascular insufficiency. Very few studies have however evaluated whether alterations of the uteroplacental blood flow, as assessed functionally by Doppler ultrasound analysis, are associated with thrombophilic abnormalities in women with late pregnancy complications. Forty-nine non-smoking women followed during their whole pregnancy in the High Risk Pregnancy Clinic of the Cliniques Universitaires Saint-Luc, Brussels, in 2003 were enrolled in this re

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Hemeda, Afaf. "Multiplicity of hereditary thrombophilic factors inherited from both parents results in child catastrophe." Egyptian Journal of Internal Medicine 31, no. 4 (2019): 979–80. http://dx.doi.org/10.4103/ejim.ejim_60_19.

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Dimitrijevic, Aleksandra, Jovana Bradic, Vladimir Zivkovic, et al. "Redox status of pregnant women with thrombophilia." Vojnosanitetski pregled, no. 00 (2021): 1. http://dx.doi.org/10.2298/vsp200908001d.

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Background/Aim. Considering the fact that role of oxidative stress in pathogenesis of thrombophilia in pregnancy has still not been clarified, the aim of our study was to assess the redox status of pregnant women with thrombophilia. Methods. The study involved 120 pregnant women who were divided into two groups: thrombophilia and normal pregnancy group. The thrombophilia group consisted of 60 pregnant women with thrombophilia, while the normal pregnancy group included 60 physiologically healthy pregnant women. Blood samples for biochemical analysis were collected at the end of first, second an

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Williams, Vaughan, Adrian B. M. Griffiths, Zen L. Yap, et al. "Increased Thrombophilic Tendency in Pediatric Cystic Fibrosis Patients." Clinical and Applied Thrombosis/Hemostasis 16, no. 1 (2009): 71–76. http://dx.doi.org/10.1177/1076029609334627.

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Thrombophilia has recently been reported to be increased in patients with cystic fibrosis (CF). We wanted to determine whether this was applicable to our population with CF and how our patients compared to the previously reported groups. Seventy one pediatric CF patients were assessed for a thrombophilic tendency, using a lupus anticoagulant screen, protein C, protein S, antithrombin assay, and activated protein C resistance (APCR) screen. The incidence of activate protein C resistance (4.2%) was within expected limits for the general population as was the incidence of antithrombin deficiency.

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Almuhaysh, Maryam Ahmed, Jawaher Sadun Alsadun, Munirah Mohammed Almulhim, et al. "Thrombophilia screening in clinical pathology: Guidelines and controversies." International journal of health sciences 6, S10 (2022): 1890–907. http://dx.doi.org/10.53730/ijhs.v6ns10.15194.

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Background: Thrombophilia screening is crucial in assessing the risk of venous thromboembolism (VTE), particularly in patients with a history of VTE. Clinical guidelines recommend targeted testing based on management implications and clinical context, including factors like surgery, malignancy, and hormonal status. Aim: This review evaluates the significant laboratory factors affecting the interpretation of thrombophilia test outcomes, specifically focusing on inherited and acquired thrombophilias associated with VTE. Methods: The review discusses common thrombophilias, including factor V Leid

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Raffini, Leslie. "Thrombophilia in Children: Who to Test, How, When, and Why?" Hematology 2008, no. 1 (2008): 228–35. http://dx.doi.org/10.1182/asheducation-2008.1.228.

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AbstractThrombosis and thrombotic risk factors in children are receiving increased attention, and pediatric hematologists frequently are asked to evaluate children with symptomatic thrombosis, or asymptomatic children who have relatives affected with either thrombosis or thrombophilia. The clinical utility of thrombophilia testing has become increasingly debated, both in adults and children. Children with thrombosis are a heterogeneous group, and it is unlikely that a single approach to testing or treatment is optimal or desirable. A causative role of inherited prothrombotic defects in many pe

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Cacciapuoti, Federico. "Thrombophilias: therapeutic employment of direct oral anticoagulants in venous hypercoagulable states." Italian Journal of Medicine 14, no. 3 (2020): 136–42. http://dx.doi.org/10.4081/itjm.2020.1296.

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Thrombophilia or hypercoagulable state is a predisposition to form clots. Thrombophilia can be inherited or acquired, and prevalently involves venous vessels. Inherited thrombophilia consists of congenital conditions, as methylenetetrahydrofolate reductase polymorphism, Factor V Leiden and prothrombin gene mutations, natural anticoagulant deficiencies, high level of factor VIII, or dysfibrinogenemia. These congenital disorders can be responsible for venous thromboembolism, particularly deep venous thrombosis, pulmonary embolism, and, less frequently, mesenteric veins thrombosis, kidneys’ veins

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Samfireag, Miruna, Cristina Potre, Ovidiu Potre, Raluca Tudor, Teodora Hoinoiu, and Andrei Anghel. "Approach to Thrombophilia in Pregnancy—A Narrative Review." Medicina 58, no. 5 (2022): 692. http://dx.doi.org/10.3390/medicina58050692.

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Thrombophilia is a genetic predisposition to hypercoagulable states caused by acquired haemostasis conditions; pregnancy causes the haemostatic system to become hypercoagulable, which grows throughout the pregnancy and peaks around delivery. Genetic testing for thrombophilic gene mutations is evaluated using different methodologies of real-time polymerase chain reaction and DNA microarrays of specific genes. Adapting the general care of the pregnant woman to the particularities caused by thrombophilia is an important component, so screening is preferred to assess the degree of genetic damage t

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Cooley, Sharon M., Jennifer C. Donnelly, Thomas Walsh, et al. "The impact of positive acquired thrombophilia serology on ultrasound, obstetric outcome and the placenta in a low-risk primigravid population." Obstetric Medicine 4, no. 1 (2011): 15–19. http://dx.doi.org/10.1258/om.2010.100057.

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Our aim was to determine the prevalence and sequelae of positive acquired thrombophilia serology in the asymptomatic low-risk primigravid population. We undertook a prospective blinded study of 1011 primigravid patients screening for lupus anticoagulant, anticardiolipin antibody, anti- β2 glycoprotein-1 and antinuclear antibody assessment at booking and 36 weeks gestation. Serial ultrasounds of the fetus with uterine and umbilical Dopplers and placental evaluation were performed at 24 and 36 weeks gestation. Antenatal course, labour and delivery outcome and placental histology were reviewed. T

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Jokubaitis, Mantas, Rūta Mineikytė, Lina Kryžauskaitė, et al. "Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?" Medicina 58, no. 8 (2022): 1056. http://dx.doi.org/10.3390/medicina58081056.

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Background and Objectives: The diagnostic value of thrombophilia remains unknown in young patients with patent foramen ovale (PFO) and stroke. In this study we hypothesized that inherited thrombophilias that lead to venous thrombosis are more prevalent in patients with PFO. Materials and Methods: The study included patients of the tertiary center Vilnius University Hospital Santaros Klinikos who had a cryptogenic ischemic stroke between the ages of 18 and 50 between the years 2008 and 2021. Transient ischemic attacks were excluded. Contrast-enhanced transcranial Doppler ultrasound and extensiv

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Masterson, Monica, Michael Levitt, Patricia Greenberg, David B. Greenberg, and Arthur A. Topilow. "Choosing Wisely in Thrombophilia: Hematologist Required." Blood 128, no. 22 (2016): 4994. http://dx.doi.org/10.1182/blood.v128.22.4994.4994.

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Abstract Background: Selection for thrombophilia testing among patients with venous thromboembolism (VTE) is controversial. Choosing Wisely guidelines published by the American Society of Hematology (ASH) recommend against testing patients with VTE provoked by the major transient risk factors of major surgery, immobility and trauma. Testing is most often considered in patients with recurrent VTE, unprovoked VTE, VTE occurring in an unusual site, and a significant family history of VTE. The purpose of this study was to review the practices in thrombophilia testing at Jersey Shore University Med

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Klaassen, Irene L. M., C. Heleen van Ommen, and Saskia Middeldorp. "Manifestations and clinical impact of pediatric inherited thrombophilia." Blood 125, no. 7 (2015): 1073–77. http://dx.doi.org/10.1182/blood-2014-05-536060.

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Abstract The etiology of pediatric venous thromboembolic disease (VTE) is multifactorial, and in most children, 1 or more clinical risk factors are present. In addition, inherited thrombophilic disorders contribute to the development of pediatric VTE. In this review, the role of inherited thrombophilic disorders in the development of pediatric VTE, as well as the benefits and limitations of thrombophilia testing, will be discussed.

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Samfireag, Miruna, Cristina Potre, Ovidiu Potre, et al. "Assessment of the Particularities of Thrombophilia in the Management of Pregnant Women in the Western Part of Romania." Medicina 59, no. 5 (2023): 851. http://dx.doi.org/10.3390/medicina59050851.

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Background and objectives: Thrombophilia in pregnant women is a condition whose incidence is constantly increasing worldwide, and, under these conditions, the development of preventive procedures is becoming essential. In this study, we aimed to evaluate thrombophilia in pregnant women in the western part of Romania and to establish anthropometric characteristics, socioeconomic features, and genetic and risk factors. Material and Methods: 178 pregnant women were divided into three study groups, according to the type of thrombophilia, aiming to carry out the genetic profile and the acquired one

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Shehata, Hassan, Amanda Ali, Mariane Silva-Edge, et al. "Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature." BMJ Open 12, no. 7 (2022): e059519. http://dx.doi.org/10.1136/bmjopen-2021-059519.

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ObjectiveThere are numerous studies reporting a disproportionally high prevalence of thrombophilia in women with a history of recurrent miscarriage (RM), which has led to overdiagnosis and treatment without an improvement in clinical outcomes. The objective of our study was to assess the prevalence of inherited and acquired thrombophilia in a large cohort of women with a history of early RM using internationally agreed diagnostic criteria and inclusion parameters and compare it to the meta-analysis results of existing literature.MethodsDesignRetrospective cohort study and systematic review of

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Ikhtiyarova, Gulchekhra Akmalovna, Shakhnoza Usmanovna Bakhranova, and Makhliyo Jo'raboyevna Aslonova. "MOLECULAR GENETIC MARKERS OF THE RISK OF DEVELOPING HYPERTENSION IN PREGNANT WOMEN WITH ANTIPHOSPHOLIPID SYNDROME." Journal of reproductive health and uronephrology research 4, no. 3 (2023): 3. https://doi.org/10.5281/zenodo.8305985.

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The article presents data on the role of thrombophilic conditions in obstetrics and gynecology: infertility, pre-embryonic losses, early miscarriages, intrauterine growth retardation syndrome, pre-eclampsia, thrombosis, antenatal fetal death, miscarriage and fetal loss syndrome. Issues of not only thrombotic, but also non-thrombotic mechanisms of the influence of thrombophilia on reproductive losses, the use of low molecular weight heparins in combination with Diosmin-600 to improve the outcome of childbirth in women with a history of fetal death and hereditary thrombophilia are discussed. &nb

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Bates, Shannon M. "Management of Pregnant Women with Thrombophilia or a History of Venous Thromboembolism." Hematology 2007, no. 1 (2007): 143–50. http://dx.doi.org/10.1182/asheducation-2007.1.143.

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Abstract Pregnancy is associated with an increased risk of venous thromboembolism (VTE), and this condition remains an important cause of maternal morbidity and mortality. Approximately 50% of gestational VTE are associated with thrombophilia. Recent studies suggest that there is also a link between thrombophilia and pregnancy loss, as well as other gestational vascular complications. Although the most compelling data derive from women with antiphospholipid antibodies, the use of anticoagulation for prevention of these complications in women with heritable thrombophilia is becoming more freque

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Colucci, Giuseppe, and Dimitrios A. Tsakiris. "Thrombophilia Screening: Universal, Selected, or Neither?" Clinical and Applied Thrombosis/Hemostasis 23, no. 8 (2017): 893–99. http://dx.doi.org/10.1177/1076029616683803.

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The utility of thrombophilia testing in clinical practice is still a matter of debate because studies have not shown a benefit in the reduction of recurrent venous thromboembolism (VTE) risk in patients with thrombosis, despite the clearly higher VTE risk for first thrombosis. Screening for thrombophilia is indicated in selected patients. Particularly in selected young patients, especially women of childbearing age, the knowledge of the genetic thrombophilic defect may help in specific situations to decrease the risk of VTE events. Avoidance of modifiable risk factors and/or prophylactic throm

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Androutsopoulos, Georgios, Athina Mougiou, Marina Karakantza, Georgios Sakellaropoulos, Georgios Kourounis, and Georgios Decavalas. "Combined inherited thrombophilia and adverse pregnancy outcome." Clin Exp Obstet Gynecol 34, no. 4 (2007): 236–38. https://doi.org/10.5281/zenodo.6026946.

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Inherited thrombophilia have been suggested as a possible condition of increased susceptibility to adverse pregnancy outcomes. In our prospective study, we investigated the association between combined inherited thrombophilia and adverse pregnancy outcome, in the South-Western Greek population.  396 healthy Greek women with spontaneous pregnancy, investigated for combinations of the three commonest thrombophilic mutations (Factor II G20210A, Factor V Leiden and MTHFR C677T) and followed for adverse pregnancy outcomes. Statistical analysis was performed by Pearson’s chi-square test.&

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Rossi, Elena, Tommaso Za, Angela Ciminello, Giuseppe Leone, and Valerio Stefano. "The risk of symptomatic pulmonary embolism due to proximal deep venous thrombosis differs in patients with different types of inherited thrombophilia." Thrombosis and Haemostasis 99, no. 06 (2008): 1030–34. http://dx.doi.org/10.1160/th08-02-0069.

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SummaryIt is uncertain whether the presence of inherited thrombophilia influences the risk of developing symptomatic pulmonary embolism (PE) and whether different thrombophilic alterations are associated with different risks of symptomatic PE. To investigate such issue, we retrospectively studied 920 patients with proximal deep vein thrombosis (DVT) of the legs with or without symptomatic PE referred for thrombophilia screening; patients with overt cancer or antiphospholipid antibodies had been excluded. Three hundred fifty-four patients (38.5%) had deficiency of antithrombin (AT, n=16), prote

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Kuhli-Hattenbach, Claudia, Peter Hellstern, Wolfgang Miesbach, Thomas Kohnen, and Lars-Olof Hattenbach. "Selective Thrombophilia Screening in Young Patients with Retinal Artery Occlusion." Ophthalmologica 235, no. 4 (2016): 189–94. http://dx.doi.org/10.1159/000446028.

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Purpose: To investigate the prevalence of various thrombophilic disorders among young patients with retinal artery occlusion (RAO). Procedures: We retrospectively reviewed thrombophilia screening data of young patients ≤60 years of age with RAO and healthy controls matched for gender and age. Results: Thrombophilia screening data of 25 young patients and 62 healthy controls were analyzed. Mean patient age by the time of the RAO was 43.3 ± 10.8 years. Overall, thrombophilic defects were found to be present in 17 patients (68%) compared with 11 of 62 controls (17.7%; p < 0.0001). Multivariate

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