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Journal articles on the topic 'Thrombophilia. eng'

Author: Grafiati

Published: 4 June 2021

Last updated: 13 February 2022

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1

Iurato, Linda, Marialuisa Ventruto, Maria Adalgisa Police, et al. "Risk factors for young ischemic stroke and the enigma of trombophilic polymorphisms: a case report." Clinical Management Issues 5, no. 4 (2011): 135–43. http://dx.doi.org/10.7175/cmi.v5i4.497.

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We report the case of a 48-year-old female patient with stroke family history that was admitted in our ward with suspected ischemic stroke diagnosis. The diagnostic process is described in detail, paying attention in particular to anamnestic data and to genetic polymorphisms related to higher risk for inherited thrombophilia. At the end, the diagnosis indicates red infarct in a migraine patient with cerebrovascular and cardiovascular risk factors of undetermined aetiology according to TOAST criteria. Some of the known thrombophilic polymorphisms were found in the patient: however not all the m

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2

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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3

Kurnik, K., A. Krümpel, M. Stoll, and U. Nowak-Göttl. "Thrombophilia in the young." Hämostaseologie 28, no. 01/02 (2008): 16–20. http://dx.doi.org/10.1055/s-0037-1616915.

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SummaryVenous thromboembolism (VTE) is a rare disease that is being increasingly diagnosed and recognized in paediatrics in the past decade, usually as a secondary complication of primary severe underlying diseases. Apart from acquired thrombophilic risk factors, such as lupus anticoagulants, inherited thrombophilias (IT) have been established as risk factors for venous thromboembolic events in adults. In children with idiopathic VTE and in paediatric populations in which thromboses were associated with underlying medical diseases, IT have been described as additional prothrombotic risk factor

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4

Kurnik, K., A. Krümpel, M. Stoll, and U. Nowak-Göttl. "Thrombophilia in the young." Hämostaseologie 28, no. 01/02 (2008): 16–20. http://dx.doi.org/10.1055/s-0037-1616930.

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SummaryVenous thromboembolism (VTE) is a rare disease that is being increasingly diagnosed and recognized in paediatrics in the past decade, usually as a secondary complication of primary severe underlying diseases. Apart from acquired thrombophilic risk factors, such as lupus anticoagulants, inherited thrombophilias (IT) have been established as risk factors for venous thromboembolic events in adults. In children with idiopathic VTE and in paediatric populations in which thromboses were associated with underlying medical diseases, IT have been described as additional prothrombotic risk factor

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5

Kolar, Petr. "Risk Factors for Central and Branch Retinal Vein Occlusion: A Meta-Analysis of Published Clinical Data." Journal of Ophthalmology 2014 (2014): 1–5. http://dx.doi.org/10.1155/2014/724780.

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Retinal vein occlusion (RVO) is a major cause of vision loss. Of the two main types of RVO, branch retinal vein occlusion (BRVO) is 4 to 6 times more prevalent than central retinal vein occlusion (CRVO). A basic risk factor for RVO is advancing age. Further risk factors include systemic conditions like hypertension, arteriosclerosis, diabetes mellitus, hyperlipidemia, vascular cerebral stroke, blood hyperviscosity, and thrombophilia. A strong risk factor for RVO is the metabolic syndrome (hypertension, diabetes mellitus, and hyperlipidemia). Individuals with end-organ damage caused by diabetes

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6

Shaala, Iglal Youssef, Akram Abdel Moneim Deghady, Reham Abdel Haleem Abo Elwafa, Tamer Ahmed Hosny, and Engy Taher Ammar. "Detection of plasminogen activator inhibitor-1 (-675 4G/5G) gene polymorphism in women with recurrent abortion." Hematology & Transfusion International Journal 7, no. 2 (2019): 41–44. http://dx.doi.org/10.15406/htij.2018.07.00203.

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Background: recurrent abortion is considered one of the most common complications that occur during pregnancy and counts for 15% of pregnancies that are recognized clinically. Many causes can be attributed to the recurrent pregnancy loss e.g. chromosomal anomalies, thrombophilic disorders, uterine anomalies, endocrine abnormalities and fetal anomalies. Thrombophilia can be either hereditary or acquired. Multiple genes had been implicated in the pathogenesis of the thrombophilia. Previous studies have indicated that genetic polymorphism of the plasminogen activator inhibitor-1 gene (PAI-1) may

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7

Mahajerin, Arash, Terry Vik, Rakesh P. Mehta, and Mark Heiny. "Thrombophilia Testing in Hospitalized Children: Waste Not, Want Not?" Blood 120, no. 21 (2012): 1150. http://dx.doi.org/10.1182/blood.v120.21.1150.1150.

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Abstract Abstract 1150 Introduction The incidence of venous thromboembolism (VTE) in children is rising. Our institutional experience has shown VTE incidence in hospitalized children rose from 0.3 to 71/10,000 admissions over a 13 year span. Many of these children had multiple acquired risk factors, e.g. central venous line (CVL), and many of these children underwent extensive thrombophilia testing. Hypothesis: Thrombophilia testing in hospitalized children with VTE is unnecessary and adds cost burden to patient (pt) care. Methods We evaluated thrombophilia testing performed in children aged 0

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8

Eberl, Edda, Ulrich Geisen, Ralf Grossmann, Franz Keller, and Schambeck Christian. "The Impact of Dalteparin (Fragmin®) on Thrombin Generation in Pregnant Women with Venous Thromboembolism: Significance of the Factor V Leiden Mutation." Thrombosis and Haemostasis 85, no. 05 (2001): 782–86. http://dx.doi.org/10.1055/s-0037-1615718.

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SummaryHypercoagulability is observed in patients with inherited thrombophilia, e.g. factor V Leiden (FVL) mutation. Pregnancy represents a hypercoagulable state as well. This study addresses the effects of the FVL mutation on haemostatic activation during pregnancy as indicated by prothrombin fragments (F1+2). 233 pregnant women with no history of venous thromboembolism were studied. Additionally, two patient groups (25 pregnant FVL carriers and 36 pregnant women without thrombophilic diathesis) in whom low molecular weight heparin (dalteparin) was used prophylactically against rethrombosis w

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9

Bauer, Alexander, Verena Limperger, and Ulrike Nowak-Göttl. "End-stage renal disease and thrombophilia." Hämostaseologie 36, no. 02 (2016): 103–7. http://dx.doi.org/10.5482/hamo-14-11-0063.

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ZusammenfassungDie chronische Niereninsuffizienz (chronic kidney disease; CKD) stellt einen bekannten Risikofaktor für die Entwicklung einer arteriellen und venösen Thromboembolie (TE) dar. Das Risiko für eine TE ist bei moderat eingeschränkter Nierenfunktion ca. 2,5-fach erhöht und steigt mit zunehmender Insuffizienz auf etwa das 5,5-Fache. Vergleicht man Patienten mit einer chronischen Niereninsuffizienz mit Patienten, die zusätzlich folgende Risikofaktoren aufweisen, erhöht sich das TE-Risiko erheblich: CKD und arterielle Thrombose: OR 4.9, CKD und maligne Grunderkrankung: OR 5.8, CKD und c

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10

Shevell, Lauren Marsh, Eun-Ju Lee, Rahul Dhodapkar, et al. "Whole Exome Sequencing and Extended Thrombophilia Testing in Patients with Venous Thromboembolism." Blood 132, Supplement 1 (2018): 2506. http://dx.doi.org/10.1182/blood-2018-99-115529.

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Abstract Introduction: Venous thromboembolism (VTE), defined as deep venous thrombosis (DVT) and pulmonary embolism (PE), is a cause of significant morbidity and mortality worldwide, with an overall incidence of about 10,000,000 cases per year. The majority of VTEs are believed to be attributable to genetic factors. Yet, the five established heritable thrombophilias of factor V Leiden (FVL), prothrombin (PT) gene mutation, antithrombin (AT) deficiency, protein C (PC) deficiency, and protein S (PS) deficiency comprise only a small portion of VTEs, suggesting that further genetic factors contrib

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11

Stamou, Maria, Stergios Intzes, Eleftheria Lamprianidou, et al. "Longer Duration and Proper Titration of Low Molecular Weight Heparin (LMWH), Are Independent Factors for Successful Pregnancy Outcome. Retrospective Analysis from a Single Center." Blood 132, Supplement 1 (2018): 5065. http://dx.doi.org/10.1182/blood-2018-99-113980.

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Abstract The role of thrombophilia and LMWH use in pregnancy loss (PL) and pregnancy complications (PC) is debated. In this retrospective study from a single center we analyzed the clinical outcome of pregnancies in relation to thrombophilic factors and the use of LMWH, aspirin and folic acid in 143 women followed up for a total of 173 pregnancies referred to our center from 2003 to 2016. Methods: Women were referred to our unit for: more than 2 unexplained PL (n=96, 78 experienced only early PL, 11 had only late PL, 7 had both early and late), one pregnancy loss(n=45) or one pregnancy complic

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12

Pasquier, Elisabeth, Luc de Saint-Martin, Gisèle Marhic, et al. "Hydroxychloroquine for prevention of recurrent miscarriage: study protocol for a multicentre randomised placebo-controlled trial BBQ study." BMJ Open 9, no. 3 (2019): e025649. http://dx.doi.org/10.1136/bmjopen-2018-025649.

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IntroductionRecurrent miscarriage (RM), defined by three or more consecutive losses during the first trimester of pregnancy, affects 1%–2% of fertile couples. Standard investigations fail to reveal any apparent cause in ~50% of couples. However, on the basis of animal models and clinical studies, several hypotheses have been put forward concerning underlying mechanisms of RM: altered ovarian reserve, progesterone defect, thrombotic and/or endothelial dysfunction and immunological disturbances. Nonetheless, no study has yet reached conclusive beneficial clinical evidence for a potential treatme

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13

Bertina, Rogier. "Genetic Approach to Thrombophilia." Thrombosis and Haemostasis 86, no. 07 (2001): 92–103. http://dx.doi.org/10.1055/s-0037-1616205.

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SummaryVenous thrombosis is a multifactorial disease. Multiple interactions between genetic and environmental factors contribute to the development of the disease. Presently, we know of six or seven genetic risk factors for venous thrombosis. However, together these defects can explain the clustering of thrombotic events in only a small subset of families with thrombophilia. As to the identification of new genetic risk factors for thrombosis, we seem to have arrived at the end of a practicable road with the classical approach of thrombophilia, which usually starts with the study of the associa

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14

Varma, Mala, Vijaya L. Ganesh, and Daniel E. Stein. "Live Term Birth and Two Ongoing Viable Pregnancies with Therapeutic Enoxaparin and Aspirin After Failure of Prophylactic Enoxaparin and Aspirin in Two Women with Thrombophilia and Recurrent Pregnancy Loss." Blood 114, no. 22 (2009): 4184. http://dx.doi.org/10.1182/blood.v114.22.4184.4184.

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Abstract Abstract 4184 The combination of prophylactic heparin and low-dose aspirin was shown in the 1990s to improve pregnancy outcome in patients with antiphospholipid antibodies and recurrent pregnancy loss (RPL). Antiphospholipid antibodies induce placental thrombosis. When associations between hereditary thrombophilias and RPL were reported in the early 2000s, we and other physicians (Rodger MA J Obstr Gyn Canada 2002) began empirically prescribing prophylactic low molecular weight heparin, low-dose aspirin, or the combination to pregnant women with thrombophilia and unexplained RPL. We o

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15

Schafer, Andrew I., Mark N. Levine, Barbara A. Konkle, and Clive Kearon. "Thrombotic Disorders: Diagnosis and Treatment." Hematology 2003, no. 1 (2003): 520–39. http://dx.doi.org/10.1182/asheducation-2003.1.520.

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Abstract Hematologists are increasingly involved in the diagnosis and management of patients with venous and arterial thromboembolic disorders. There have been major advances in recent years in our understanding of the central role of hypercoagulability in the pathogenesis of thrombosis. This has led to new approaches to the diagnosis of patients at risk for thrombosis and the development of more rational antithrombotic strategies. In Section I, Dr. Andrew Schafer reviews current concepts of acquired and inherited hypercoagulable states. It is now recognized that most, if not all, patients wit

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Stuleva, N. S., A. V. Vorobiev, and E. A. Orudzhova. "A case of mesenteric vein thrombosis developed in the first trimester of pregnancy after in vitro fertilization and embryo transfer in a patient with antiphospholipid syndrome." Obstetrics, Gynecology and Reproduction 12, no. 4 (2019): 72–78. http://dx.doi.org/10.17749/2313-7347.2018.12.4.072-078.

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Combined thrombophilia is known as a probable cause of recurrent in vitro fertilization (IVF) failures. The present clinical case demonstrates the importance of considering the possibility of inherited or acquired thrombophilia in patients under the preparation for IVF. Thromboses of rare locations (hepatic vein, splenic vein, mesenteric vein, ovarian vein, retinal vein, cerebral vein, portal vein, axillary and subclavian vein) are life-threatening conditions. Most often thrombosis of atypical location develops in patients with inherited hemostatic defects, e.g. genetic thrombophilia. Such thr

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17

Danckwardt, Sven, Kathrin Hartmann, Niels H. Gehring, Matthias W. Hentze, and Andreas E. Kulozik. "3′ End Processing of the Prothrombin mRNA in Thrombophilia." Acta Haematologica 115, no. 3-4 (2006): 192–97. http://dx.doi.org/10.1159/000090934.

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18

Hart, Christina, and Birgit Linnemann. "Laboratory Diagnostics in Thrombophilia." Hämostaseologie 39, no. 01 (2019): 049–61. http://dx.doi.org/10.1055/s-0039-1677840.

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AbstractA thrombophilic disorder is a hereditary or acquired condition that increases the risk of thrombosis. The most common hereditary thrombophilias that predispose to venous thrombosis in the Caucasian population are the heterozygous forms of the factor V Leiden and prothrombin G20210A mutation that are generally detected by direct DNA genotyping. Immunologic antigen assays and chromogenic or clot-based activity assays are used to identify deficiencies in the natural coagulation inhibitors antithrombin, protein C and protein S. Because pre-analytical errors and acquired causes of low antit

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19

Linnikov, Valery, and Svyatoslav Linnikov. "TROMBOPHILIA AS THE MAIN LINK OF PATHOGENESIS OF COMPLICATIONS IN OBSTETRICS AND GYNECOLOGY." Science and Education 2019, no. 3 (2019): 31–36. http://dx.doi.org/10.24195/2414-4665-2019-3-5.

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The analysis of gemostasiologikal researches on hidden got and genetic forms of trombophilia at women with the burdened anamnesis of syndrome of loss of a fetus. For certain established (p<0,05), that got thrombophilia, conditioned by the AFS at patients with FLS average - 28,6 % cases. The genetic mutation FVLeiden more frequent took place at patients with late abortions (14,3 %), the mutation of prothrombin gene G20210A met for certain rarer in all groups of reproduction losses - 4,8 %. The most widespread appeared the mutation МTHFR C677T - (45,2 %). Factor of potential action of the AFA

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Littsey, Lisabette, Andrea S. Haggood, Paul Swerdlow, and Judith C. Andersen. "The Landscape of Thrombophilia in Sickling Disorders: Unfamiliar Terrain." Blood 110, no. 11 (2007): 3810. http://dx.doi.org/10.1182/blood.v110.11.3810.3810.

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Abstract Sickling disorders have long been suspected of decreasing physiologic thresholds for thrombosis, and the sickling process in tissue of being abetted by elements of the hemostatic system. The landscape of the presumed hypercoagulable state, however, has been ill-defined and differences among sickling disorders with regard to its characteristics, if any, undelineated. Learning how this landscape may reflect the pathophysiology of the sickling process may help guide further study of the interactions among the vasculature and the varieties of abnormal erythrocytes resulting from these hem

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Kakaei, Farzad, Saba Mirabolfathi, Negin Yavari, Mohammad Reza Ardalan, Mehrdad Mozafar, and Sina Zarrintan. "Hereditary thrombophilia and thrombosis of tunneled hemodialysis catheters: A single center study." Journal of Cardiovascular and Thoracic Research 13, no. 1 (2021): 79–83. http://dx.doi.org/10.34172/jcvtr.2021.06.

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Introduction: Vascular access thrombosis increases the risk of mortality and morbidity in end-stage renal disease (ESRD) patients on hemodialysis (HD). This study aimed to evaluate hereditary thrombophilia factors in HD patients and its association with tunneled cuffed catheters’ thrombosis. Methods: In this cross-sectional study, 60 consecutive patients with ESRD on HD with tunneled cuffed catheters were selected. Inherited thrombophilia factors (Anti-thrombin III, Protein C, Protein S, and Factor V Leiden) were measured and the patients were followed for 3 months to evaluate the incidence of

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Favaloro, Emmanuel J. "Danger of false negative (exclusion) or false positive (diagnosis) for ‘congenital thrombophilia’ in the age of anticoagulants." Clinical Chemistry and Laboratory Medicine (CCLM) 57, no. 6 (2019): 873–82. http://dx.doi.org/10.1515/cclm-2018-1041.

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Abstract Background Most guidelines and experts recommend against performance of thrombophilia testing in general, and specifically against testing patients on pharmacological anticoagulants, due to substantially increased risk of false positive identification. For example, vitamin K antagonist (VKA) therapy affects protein C (PC) and protein S (PS), as well as some clotting assays (e.g. as used to investigate activated PC resistance [APCR]). Although heparin may also affect clotting assays, most commercial methods contain neutralisers to make them ‘insensitive’ to therapeutic levels. Direct o

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23

Mravyan, S. R., T. S. Kovalenko, I. O. Shuginin, T. S. Budykina, and S. I. Fedorova. "Clinical cases of myocardial infarction in pregnant women: the role of hereditary thrombophilia." Almanac of Clinical Medicine 48, no. 5 (2020): 341–47. http://dx.doi.org/10.18786/2072-0505-2020-48-059.

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Acute myocardial infarction during pregnancy is a threatening complication with high maternal and perinatal mortality. According to the literature, hereditary thrombophilia is commonly associated with obstetric disorders and susceptibility to venous thrombosis, whereas arterial part of the vasculature, including coronary, is rarely involved. The article describes two clinical cases of pregnant women with acute myocardial infarction and post-infarction cardiosclerosis, in whom hereditary thrombophilia, associated with the gene PAI-1-675 polymorphism, was diagnosed. Mothers of both patients had

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Landahl, F., F. Langer, and J. Woitalla-Bruning. "Thrombophilien: Wann ist eine weiterführende Diagnostik sinnvoll?" Phlebologie 48, no. 02 (2019): 123–26. http://dx.doi.org/10.1055/a-0861-7142.

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ZusammenfassungDie Entwicklung der tiefen Beinvenenthrombose (TVT) wird meist durch klassische Risikofaktoren wie Immobilisation oder größere Operationen begünstigt. Eine Thrombose unklarer Ätiologie, insbesondere bei jüngeren Patienten, sollte weiter abgeklärt werden.Die Indikation zur Thrombophiliediagnostik sollte stets eng gestellt werden und nur bei Verdacht auf einen schwere Thrombophilie oder einer auffälligen Häufung von thromboembolischen Ereignissen bei erstgradigen Verwandten empfohlen werden, da sich aus den Untersuchungsergebnissen Konsequenzen hinsichtlich der Einschätzung des Re

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Schulman, Sam, Henry Eriksson, Samuel Z. Goldhaber, et al. "Influence of Thrombophilia on the Efficacy of Dabigatran Versus Warfarin for the Extended Treatment of Acute Venous Thromboembolism in RE-MEDY™." Blood 124, no. 21 (2014): 1544. http://dx.doi.org/10.1182/blood.v124.21.1544.1544.

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Abstract Background: Dabigatran etexilate (DE) was noninferior to warfarin for the prevention of recurrent venous thromboembolism (VTE), with a lower risk of bleeding, when administered as extended treatment for VTE in the RE-MEDY™ study (in which we evaluated long-term extension of treatment with dabigatran compared with warfarin). Objectives: Thrombophilia is a major risk factor for VTE recurrence. Therefore, we performed a post-hocsubgroup analysis on data from RE-MEDY™ to investigate the efficacy of DE versus warfarin in patients with and without thrombophilia (congenital or acquired) at b

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Schellong. "Secondary prophylaxis of venous thromboembolism." Vasa 34, no. 1 (2005): 3–10. http://dx.doi.org/10.1024/0301-1526.34.1.3.

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Making decisions about any modality of secondary prophylaxis in patients with venous thromobembolism (VTE) has to balance the risk of bleeding induced by anticoagulants against the benefit of reducing the risk of recurrent disease. It has to be kept in mind that the magnitude of risk is not only defined by the number of events per time period but also by the impact of the event on the fate of the patient. With standard intensity Vitamin K antagonists, the risk of bleeding is more closely related to comorbidities than to other factors, e.g. age. The risk of VTE recurrence differs largely betwee

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Ermolova, T. V., B. N. Kotiv, V. V. Oleinik, and O. O. Yukhnova. "Budd-Chiari syndrome at the young woman with thrombophilia and myeloproliferative disease." Experimental and Clinical Gastroenterology 1, no. 10 (2020): 101–4. http://dx.doi.org/10.31146/1682-8658-ecg-170-10-101-104.

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In the clinic of various diseases (especially hematological) Budd-Chiari syndrome occupies a signifi cant place. The occurrence of blood fl ow disorders in the portal vein system can be a manifestation and the only symptom that manifests itself in a number of diseases. Given the rapid development of portal hypertension, this syndrome requires rapid diagnosis and timely initiated therapeutic measures, as well as comprehensive research to identify the etiological cause of Budd-Chiari syndrome.Objectives: In this paper we demonstrated a clinical case of a young patient with Budd-Chiari syndrome,

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Bauersachs, Rupert M., Joachim Dudenhausen, Andree Faridi, et al. "Safety and Efficacy of Low-Molecular-Weight Heparin in Pregnant Women at Increased Risk of Venous Thromboembolism: A Prospective Stratified Multicentre Trial." Blood 108, no. 11 (2006): 715. http://dx.doi.org/10.1182/blood.v108.11.715.715.

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Abstract Women with a history of VTE, thrombophilia or both are at increased risk for VTE during pregnancy, but the optimal management strategy, and the need for thromboprophylaxis is not well defined in clinical guidelines because of limited trial data. The EThIG (Efficacy of Thromboprophylaxis as an Intervention during Gravidity) is a multicenter trial that prospectively enrolled 810 pregnant women at risk of VTE. Women were assigned to one of 3 management strategies: Low risk group I (including women with prior secondary VTE, or asymptomatic thrombophilia) with “watchful waiting” management

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Luzina, E. V., E. A. Tomina, S. I. Shchadneva, and N. V. Lareva. "Portal vein thrombosis — a literature review and our own clinical observations." Experimental and Clinical Gastroenterology, no. 9 (September 18, 2020): 55–62. http://dx.doi.org/10.31146/1682-8658-ecg-181-9-55-62.

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The portal vein thrombosis (PVT) is a partial or complete occlusion of blood flow through the portal vein that occurs due to the presence of a blood clot in its lumen. Currently, PVT has become more common in the clinic of internal diseases. PVT can be caused by many factors, among which local and systemic. Systemic factors include congenital and acquired thrombophilia. Local factors include inflammatory, infectious, and oncological diseases of the abdominal organs. One of the most likely causes of PVT is currently being considered liver cirrhosis. The article presents the literature data, cli

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Sindhwani, P., and M. Shaw. "Incidence of Thrombophilia in Autoimmune Versus Anatomic Causes of Pediatric End Stage Renal Disease Patients." Transplantation 98 (July 2014): 570. http://dx.doi.org/10.1097/00007890-201407151-01917.

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Gehring, Niels H., Ute Frede, Gabriele Neu-Yilik, et al. "Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia." Nature Genetics 28, no. 4 (2001): 389–92. http://dx.doi.org/10.1038/ng578.

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Spinosa, Margaret, and Jonathan G. Stine. "Nonalcoholic Fatty Liver Disease-Evidence for a Thrombophilic State?" Current Pharmaceutical Design 26, no. 10 (2020): 1036–44. http://dx.doi.org/10.2174/1381612826666200131101553.

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Nonalcoholic fatty liver disease is the leading cause of liver disease worldwide. It has expansive extrahepatic morbidity and mortality including increased rates of both cardiovascular disease and venous thromboembolism. Derangements in primary, secondary and tertiary hemostasis are found in nonalcoholic fatty liver disease independent of those ascribed to end-stage liver disease. The abnormalities across all stages of hemostasis explain the increased rates of clinically relevant thrombotic events, including pulmonary embolism, deep vein thrombosis and portal vein thrombosis, which on an epide

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Hasan, Asma, Sharon Maynard, Dominick Santoriello, and Henry Schairer. "Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report." Case Reports in Nephrology and Dialysis 8, no. 3 (2018): 223–29. http://dx.doi.org/10.1159/000493091.

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Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the AGXT gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme. It is characterized by accumulation of oxalate in the kidneys and other organs. Case Presentation: A Syrian woman with a history of nephrolithiasis and heterozygosity for factor V Leiden and prothrombin gene mutations presented with postpartum renal failure. She required initiation of renal replacement therapy at 14 weeks postpartum. Kidney biopsy showed severe acute and chronic crystalline depositi

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Favresse, Julien, Benjamin Lardinois, Lina Sabor, et al. "Evaluation of the DOAC-Stop® Procedure to Overcome the Effect of DOACs on Several Thrombophilia Screening Tests." TH Open 02, no. 02 (2018): e202-e209. http://dx.doi.org/10.1055/s-0038-1657785.

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AbstractThe impact of direct oral anticoagulants (DOACs) on laboratory assays used for thrombophilia testing (e.g., antithrombin, protein S, protein C, lupus anticoagulant and activated protein-C resistance) is a well-known issue and may cause false-positive and -negative results. Therefore, the correct interpretation of tests that are performed in patients taking DOACs is mandatory to prevent misclassification and the subsequent clinical consequences. We aimed at evaluating the efficiency of a new and simple procedure (DOAC-Stop®; Haematex Research, Hornsby, Australia) to overcome the effect

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Sosnova, Elena A., S. B. Bolevich, and M. Sh Pokaleneva. "Pathophysiological role of free radical processes in pregnancies end in miscarriage." V.F.Snegirev Archives of Obstetrics and Gynecology 3, no. 3 (2016): 136–40. http://dx.doi.org/10.18821/2313-8726-2016-3-3-136-140.

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Pregnancy end in miscarriage proves to be the one of the main problems of modern obstetrics and gynecology. Miscarriage rate currently accounts for 15-27%. Among the causes of miscarriage there are discriminated genetic, anatomic, endocrine, infectious, immunologic, and thrombophilic factors. In the exclusion of all of above mentioned reasons the genesis of spontaneous abortion is considered to be unclear (idiopathic). In recent years, more and more often the attention of clinicians is attracted by pathophysiological aspects of the participation offree radical processes in molecular and cellul

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Lisitsa, T. S., E. V. Zhukovskaya, A. Yu Ikonnikova, and T. V. Nasedkina. "Venous Thrombosis in a Child with Burkitt Lymphoma Receiving Chemotherapy: A Clinical Case." Oncopediatrics 5, no. 3 (2018): 197–203. http://dx.doi.org/10.15690/onco.v5i3.1937.

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Background. Venous thrombosis is extremely rare in children of early age; however, it occurs as a frequent and serious complication in children with hemoblastosis. The phenomenon is basically caused by the imbalance of blood coagulation system associated with the main disease, prolonged use of the central venous catheter, and polychemotherapy; hereditary predisposition contributes to the development of the complication as well. Clinical Case Description. A 12-year-old patient B. was diagnosed with Burkitt lymphoma. During chemotherapeutic treatment, the thrombosis of right internal jugular vei

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Zamagni, Elena, Lelia Valdre, Michela Cini, et al. "Baseline Thrombophilic Alterations and Risk of Venous Thromboembolism in 266 Multiple Myeloma Patients Primarily Treated with Thalidomide and High-Dose Dexamethasone." Blood 110, no. 11 (2007): 3997. http://dx.doi.org/10.1182/blood.v110.11.3997.3997.

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Abstract Venous thromboembolism (VTE) has emerged as a major adverse event of primary induction therapy with thalidomide (thal) and dexamethasone (dex) for newly diagnosed multiple myeloma (MM). Aim of the present study was to investigate the relationship between thrombophilic alterations and the risk of VTE in 266 patients who received four months of therapy with thal (200 mg/d) and pulsed high-dose dex in preparation for double autologous transplantation. The rate of VTE in the whole group of patients was 11.6%. The risk of VTE was 26.3% (86.2% patient-years) among the first 19 patients who

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Andersen, Judith C., Patricia Dhar, Lynnette Essenmacher, Joel Ager, and Robert Sokol. "Determinants of Thrombophilia in an Urban Systemic Lupus Erythematosus Population." Blood 106, no. 11 (2005): 4134. http://dx.doi.org/10.1182/blood.v106.11.4134.4134.

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Abstract Patients with systemic lupus erythematosus (SLE) are known to experience thrombosis with higher frequency than the general population, but the demographic and laboratory underpinnings of this phenomenon have been incompletely studied. To characterize clinical and laboratory parameters predisposing to thrombosis in urban systemic lupus patients, medical records of 111 such patients with a history of vascular thrombosis, adverse pregnancy outcome, or considered to be at high risk for thrombosis because of their clinical setting and collagen-vascular disease were reviewed. Extensive inve

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Rezus, Elena, Bogdan Ionel Tamba, Minerva Codruta Badescu, Diana Popescu, Ioana Bratoiu, and Ciprian Rezus. "Osteonecrosis of the Femoral Head in Patients with Hypercoagulability—From Pathophysiology to Therapeutic Implications." International Journal of Molecular Sciences 22, no. 13 (2021): 6801. http://dx.doi.org/10.3390/ijms22136801.

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Osteonecrosis of the femoral head (ONFH) is a debilitating disease with major social and economic impacts. It frequently affects relatively young adults and has a predilection for rapid progression to femoral head collapse and end-stage hip arthritis. If not diagnosed and treated properly in the early stages, ONFH has devastating consequences and leads to mandatory total hip arthroplasty. The pathophysiology of non-traumatic ONFH is very complex and not fully understood. While multiple risk factors have been associated with secondary ONFH, there are still many cases in which a clear etiology c

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Topalidou, Maria, Vassilios K. Papadopoulos, Zoi Mpousiou, et al. "Protein-Z Deficiency and/or Protein Z Polymorphisms in First Trimester Pregnancy Complications." Blood 118, no. 21 (2011): 1221. http://dx.doi.org/10.1182/blood.v118.21.1221.1221.

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Abstract Abstract 1221 INTRODUCTION: Protein Z (PZ) is a vitamin K-dependent coagulation factor; it is a glycoprotein that inhibits activated factor Xa, acting as a co-factor to PZ-dependent protease inhibitor, enhancing its action approximately by 1000 times. PZ levels in normal individuals vary greatly, as a result of PZ gene polymorphisms. PZ deficiency has been involved in the pathogenesis of ischemic strokes and pregnancy complications. Gris et al [Blood 2002;99(7):2606–08] first described a possible role of PZ deficiency (PZ <= 1mg/L) in women with fetal loss between the beginning of

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Ronen, Harel, Nakul Singhal, and Colette Spaccavento. "Inpatient Hypercoagulable Testing, a Single Institution Experience." Blood 126, no. 23 (2015): 4474. http://dx.doi.org/10.1182/blood.v126.23.4474.4474.

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Abstract Introduction Hereditary thrombophilia describes an inherited tendency to form venous or arterial thrombosis second to loss of natural anticoagulants. The optimal patient populations to test for these thrombophilic states are controversial. No accepted guidelines exist for whom to test, but consensus among many experts is that a targeted approach should be taken. Both the College of American Pathologists (CAP) and the American College of Medical Genetics (ACMG) suggest testing the following patients: Idiopathic VTE at <50 years old, recurrent VTE, and unusual sites of VTE (e.g., mes

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Sreen, Amit, Prafull Sharma, Vivek Guleria, and Niket Verma. "Risk factors including prothrombotic work up in young ischemic stroke Indian patients." International Journal of Advances in Medicine 7, no. 4 (2020): 547. http://dx.doi.org/10.18203/2349-3933.ijam20201029.

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Background: Stroke in young poses a major health problem. Various Indian studies have shown the incidence of stroke to be 10-15%. Cerebral venous thrombosis and rheumatic heart disease are the leading causes of stroke in the young in India. Thrombophilic factors have been implicated in 4-8% of the young strokes worldwide. Protein C deficiency is the most common thrombophilia marker followed by a deficiency of protein S, Factor V Leiden mutation, and antithrombin (AT) deficiency. Aims and objectives was the study of stroke in young is important for various reasons. The etiology and risk factors

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Stier, C. "Severe thrombophilia in a paediatric patient with end-stage renal disease: detection of the prothrombin gene G20210A mutation." Nephrology Dialysis Transplantation 13, no. 8 (1998): 2130–32. http://dx.doi.org/10.1093/ndt/13.8.2130.

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Tkachenko, O. Yu, S. V. Lapin, A. A. Shmonin, et al. "RANGING OF ANTIPHOSPOLIPID ANTIBODIES IN THE PATIENTS WITH THROMBOPHILIA AND RECURRENT MISCARRIAGE." Medical Immunology (Russia) 20, no. 5 (2018): 753–62. http://dx.doi.org/10.15789/1563-0625-2018-5-753-762.

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Laboratory diagnosis of antiphospholipid syndrome (APS) is based on detection of antiphospholipid antibodies (aPLs). E.g., aPLs are directed against conformational epitopes of the so-called “co-factor” proteins: β2-gycoprotein 1 (β2-GP1), annexin V (An V) and prothrombin (Pt) that are formed during interaction with phospholipids – cardiolipin (CL), phosphatic acid (Pha), phosphatidylcholine (Pch), phosphatidylethanolamine (Pe), phosphatidylglycerol (Pg), phosphatidylinositol (Pi), phosphatidylserine (Ps). A routine methodology of detection based on ELISA testing is challenged by new tests when

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Lupescu, Ioan-Cristian, Ioana Gabriela Lupescu, and Adriana Octaviana Dulamea. "ESTABLISHING THE CORRECT MANAGEMENT IN A PATIENT WITH MULTIPLE CRYPTOGENIC STROKES: ANTIPLATELET VS ANTICOAGULANT THERAPY." Romanian Journal of Neurology 16, no. 3 (2017): 116–18. http://dx.doi.org/10.37897/rjn.2017.3.6.

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Cryptogenic strokes represent a category of ischemic strokes in which there is no well-defined cause identified. For that matter, choosing between antiplatelet and anticoagulant therapy can be challenging. We present the case of a 44 year old Caucasian male with a history of multiple ischemic strokes, with thrombophilia, but no atrial fi brillation or known cardio-embolic sources, who initially received anticoagulant treatment, which was switched in 2015 with Clopidogrel. Aspirin was added in 2017 after having a TIA in the left MCA territory. Despite dual antiplatelet therapy, the patient deve

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Flege, Silke, Lesley Mitchell, Gili Kenet, Christine Heller, Michael Fruhwald, and Ulrike Nowak-Gottl. "Validation of a Predictive Model for Indentifying An Increased Risk for Thromboembolism in Children with Acute Lymphoblastic Leukemia: Results of a Multicenter Cohort Study." Blood 112, no. 11 (2008): 524. http://dx.doi.org/10.1182/blood.v112.11.524.524.

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Abstract Children with acute lymphoblastic leukemia (ALL) are at increased risk for venous thromboembolism (VTE), however, not all children experience a VTE. Developing a predictive model for determining children at increased risk would be beneficial in targeting interventional studies to only high risk groups. A recent meta-analysis of studies in VTE in children with ALL identified four potential risk factors: treatment with Escherichia coli asparaginase (CASP), concomitant use of steroids, presence of central venous lines and thrombophilic genetic abnormalities. As VTE in childhood ALL is we

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Pfliegler, György, Erzsébet Kovács, György Kovács, Krisztián Urbán, Valéria Nagy, and Boglárka Brúgós. "Adult-onset rare diseases." Orvosi Hetilap 155, no. 9 (2014): 334–40. http://dx.doi.org/10.1556/oh.2014.29857.

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The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the

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Danckwardt, Sven, Niels H. Gehring, Gabriele Neu-Yilik, et al. "The prothrombin 3′end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations." Blood 104, no. 2 (2004): 428–35. http://dx.doi.org/10.1182/blood-2003-08-2894.

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Abstract The functional analysis of the common prothrombin 20210 G&gt;A(F2 20210*A) mutation has recently revealed gain of function of 3′end processing as a novel genetic mechanism predisposing to human disease. We now show that the physiologic G at the cleavage site at position 20210 is the functionally least efficient nucleotide to support 3′end processing but has evolved to be physiologically optimal. Furthermore, the F2 3′end processing signal is characterized by a weak downstream cleavage stimulating factor (CstF) binding site with a low uridine density, and the functional efficiency

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Pahuja, Mohit, Bujji Ainapurapu, and Aiden Abidov. "Large Left Ventricular Thrombus in a Patient with Systemic and Venous Thromboembolism Secondary to Protein C and S Deficiency." Case Reports in Cardiology 2017 (2017): 1–3. http://dx.doi.org/10.1155/2017/7576801.

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58-year-old Hispanic female presented with an altered mental status. A CT scan of the head demonstrated multiple scattered infarcts and a large right temporal lobe infarct. We also diagnosed the patient with right popliteal and femoral vein thrombosis, bilateral pulmonary embolism, and a transient right radial artery occlusion. Her 12-lead EKG showed lateral ST elevation. Emergent coronary angiogram revealed normal coronaries. Echocardiogram demonstrated a large mobile mass attached to the anterolateral free wall with overall normal contractility of the left ventricle. The patient underwent su

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Pruner, Iva, Valentina Djordjevic, Maja Gvozdenov, et al. "The C20068T gene variant in the 3` end of the prothrombin gene and recurrent pregnancy loss: A pilot study." Genetika 47, no. 2 (2015): 469–76. http://dx.doi.org/10.2298/gensr1502469p.

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Recurrent pregnancy loss (RPL) is a health problem affecting up to 5% of women of reproductive age. Several thrombophilic risk factors might contribute to RPL.To investigate relationship between a novel C20068T gene variant in the 3` end of prothrombin gene and RPL, we tested 153 women with RPL and 111 controls for the presence of this gene variant. In patients, we have detected four heterozygous (2.61%) and no homozygous carriers. In controls, no carriers were detected. Our results indicate higher prevalence of C20068T gene variant in women with RPL but this difference was not statistically s

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