Academic literature on the topic 'Thrombophilia'

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Journal articles on the topic "Thrombophilia"

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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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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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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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Dissertations / Theses on the topic "Thrombophilia"

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Simmonds, Rachel Elizabeth. "Protein S deficiency and familial thrombophilia." Thesis, Imperial College London, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.267993.

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Beauchamp, Nicholas James. "Molecular genetic basis of inherited thrombophilia." Thesis, University of Sheffield, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287349.

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Sanson, Bernd-Jan. "Risks of thrombophilia and diagnostics of pulmonary embolism." [S.l. : Amsterdam : s.n.] ; Universiteit van Amsterdam [Host], 2000. http://dare.uva.nl/document/83894.

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Lijfering, Willem Marten. "Thrombophilia issue or non-issue in clinical practice? /." [S.l. : [Groningen : s.n.] ; University of Groningen] [Host], 2008. http://irs.ub.rug.nl/ppn/.

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Ibrahim, Ayman Hussein. "The thrombomodulin gene and its contribution to adverse pregnancy outcome." Thesis, University of Liverpool, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.288113.

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Jennings, I. "An investigation of diagnostic errors in laboratory screening for thrombophilia." Thesis, University of Sheffield, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419385.

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Folkeringa, Nienke. "Pregnancy-related thrombosis and fetal loss in women with thrombophilia." [S.l. : [Groningen : s.n.] ; University of Groningen] [Host], 2009. http://irs.ub.rug.nl/ppn/.

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Pecheniuk, Natalie Maria. "DNA analysis of common genetic variations which predispose to thrombophilia." Thesis, Queensland University of Technology, 2000.

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Wakeman, Lisa Jayne. "Whole blood platelet function testing as an adjunct to thrombophilia screening." Thesis, University of the West of England, Bristol, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.601348.

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Platelet hyperaggregability, including Sticky Platelet Syndrome has been identified as a cause of thrombotic conditions including venous thrombosis and foetal loss. The laboratory diagnosis of classical Sticky Platelet Syndrome is based on enhanced platelet aggregation responses to submaximallevels of adenosine diphosphate and epinephrine by optical aggregometry techniques. This study sought to evaluate platelet hyperaggregability by Multiple Electrode Aggregometry, PFA-100 analysis and quantitative analysis of associated platelet parameters as an adjunct to thrombophilia screening. Forty nine
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Gomer, Kerry Gretchen. "Women, birth control pills, and thrombophilia an analysis of current risk communication /." Connect to this title online, 2009. http://etd.lib.clemson.edu/documents/1247509090/.

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Books on the topic "Thrombophilia"

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K, MacCallum P., and Meade T. W, eds. Thrombophilia. Baillière Tindall, 1999.

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W, Meade T., ed. Thrombophilia. Baillière Tindall, 1994.

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Benjamin, Brenner, ed. Thrombophilia in pregnancy. Baillière Tindall, 2003.

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Benjamin, Brenner, ed. Thrombophilia in pregnancy. Baillière Tindall, 2003.

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Lockwood, Charles J. Thrombosis, thrombophilia and thromboembolism. American College of Obstetricians and Gynecologists, 2007.

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Dorgalaleh, Akbar, and Anvarjon Samadov, eds. Laboratory Investigations of Thrombophilia. Springer Nature Switzerland, 2025. https://doi.org/10.1007/978-3-031-90986-3.

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Z, Goldhaber Samuel, and Ridker Paul M. 1959-, eds. Thrombosis and thromboembolism. M. Dekker, 2002.

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J, Seghatchian M., Samama Meyer M, and Hecker S. P, eds. Hypercoagulable states: Fundamental aspects, acquired disorders, and congenital thrombophilia. CRC Press, 1996.

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R, Higgins J., and Brennecke S. P, eds. Inherited thrombophilias. Baillière Tindall, 2003.

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Benjamin, Brenner, Marder Victor J, and Conard Jacqueline, eds. Women's issues in thrombosis and hemostasis. Martin Dunitz, 2002.

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Book chapters on the topic "Thrombophilia"

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DeLoughery, Thomas G. "Thrombophilia." In Hemostasis and Thrombosis. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-09312-3_17.

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Heit, John A. "Thrombophilia." In Vascular Medicine and Endovascular Interventions. Society for Vascular Medicine and Biology, 2008. http://dx.doi.org/10.1002/9780470692356.ch5.

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Neumann, Kay, and Georg Griesinger. "Thrombophilia." In Recurrent Implantation Failure. CRC Press, 2019. http://dx.doi.org/10.1201/9781315165707-8.

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Ciaccio, Marcello. "Thrombophilia." In Clinical and Laboratory Medicine Textbook. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-24958-7_24.

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Edozien, Leroy C. "Thrombophilia." In The Labour Ward Handbook, 3rd ed. CRC Press, 2023. http://dx.doi.org/10.1201/9781315099897-70.

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Mantha, Simon, and Gerald A. Soff. "Unidentifiable Thrombophilia." In Nonmalignant Hematology. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-30352-9_43.

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Franchini, Massimo. "Thrombophilia Testing." In Handbook of Venous Thromboembolism. John Wiley & Sons, Ltd, 2017. http://dx.doi.org/10.1002/9781119095606.ch6.

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Carman, Teresa L. "Thrombophilia Testing." In Anticoagulation Therapy. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-73709-6_16.

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David, Jerel, Wissam Hanayneh, and Michael Jaglal. "Familial Thrombophilia." In Non-Neoplastic Hematologic Disorders. Springer Nature Switzerland, 2024. http://dx.doi.org/10.1007/978-3-031-62373-8_37.

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Baglin, Trevor, and David Keeling. "Heritable Thrombophilia." In Postgraduate Haematology. John Wiley & Sons, Ltd, 2015. http://dx.doi.org/10.1002/9781118853771.ch44.

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Conference papers on the topic "Thrombophilia"

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Avdić, Aldina R., Natasa Z. Djordjević, Ulfeta A. Marovac, Lejlija M. Memić, Zana Ć. Dolićanin, and Goran M. Babić. "Thrombophilia Prediction Using Machine Learning Algorithms." In 2nd International Conference on Chemo and Bioinformatics. Institute for Information Technologies, University of Kragujevac, 2023. http://dx.doi.org/10.46793/iccbi23.140a.

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Thrombophilia in pregnancy is the result of a complex interaction of inherited and acquired factors, which increase blood coagulation and consequently placental ischemic conditions. Early identification of risk of developing thrombophilia in pregnancy is crucial for implementing preventive measures and personalized therapy. In this study, we propose a novel approach for prediction of thrombophilia in pregnancy utilizing machine learning (ML) algorithms with a particular focus on neural networks. The research is done using a dataset consisting of demographic, lifestyle, and clinical information
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Thabet, Afef Ben, Rim Zaaghdoud, Manel Charfi, et al. "P443 Hereditary Thrombophilia in newborn." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.779.

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Vilhena, João, M. Rosário Martins, Henrique Vicente, Luís Nelas, José Machado, and José Neves. "Thrombophilia Screening - An Artificial Neural Network Approach." In International Conference on Health Informatics. SCITEPRESS - Science and and Technology Publications, 2015. http://dx.doi.org/10.5220/0005197500510059.

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Briët, E., L. Engesser, E. J. P. Brommer, A. W. Broekmans, and R. M. Bertina. "THROMBOPHILIA:ITS CAUSES AND A ROUGH ESTIMATE OF ITS PREVALENCE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1642945.

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Idiopathic venous thrombosis and embolism have gained widespread interest since the discovery that, deficiencies of antithrombin III, protein C, and protein S are associated with familial venous thrombophilia. The purpose of our study was to obtain an estimate of the prevalence of this syndrome and to establish the etiology in as many cases as possible.We collaborated with specialists from 37 Dutch hospitals, covering about 10% of the Dutch population. A history as well as blood samples were obtained from 113 unrelated cases with familial thrombophilia and from 90 isolated cases. Assuming that
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Abduganieva, E. "Thrombophilia as a factor in increasing inflammation in COPD." In ERS International Congress 2022 abstracts. European Respiratory Society, 2022. http://dx.doi.org/10.1183/13993003.congress-2022.1910.

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Hassan, H. J., L. Cianetti, P. M. Mannucci, V. Vicente, R. Cortese, and C. Peschle. "HEREDITARY THROMBOPHILIA CAUSED BY MISSENSE MUTATION IN PROTEIN C GENE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1642944.

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The structure of the gene for protein C was analyzed in 13 protein C deficient unrelated patients (11 heterozygous, 2 homozygous), who showed an equivalent reduction of this serine protease at both enzymatic and antigen level. No deletion(s) or rearrangement(s) was demonstrated by Southern blot after hybridization to a cDNA probe. One patient showed a variant restriction pattern after Bam HI digestion, characterized by an abnormal 9.6 kb band in addition to the 8.3 and 1.3 normal ones. Extensive family studies, including 7 heterozygotes with the same clinical phenotype, showed the same abnorma
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Miyahira, Clara Kimie, Beatriz Medeiros Correa, Raphael Palomo Barreira, et al. "Artery of Percheron territory infarct in a young patient with thrombophilia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.026.

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Context: Stroke, when affecting territories dependent on posterior circulation, affects the thalamus and mesencephalic structures, regions irrigated by the paramedian arteries and perforating arteries of the posterior communicating artery and posterior cerebral artery. However, there is an anatomical variant of the paramedian arteries, the Percheron artery, when occluded causes bilateral thalamic infarction. Case report: a 53-year-old woman who presented blurred vision, holocranial headache, hypertensive peak, decreased level of consciousness, anisocoria, conjugate eye deviation. Tomography wa
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Okhrem, A., T. Siegemund, A. Siegemund, S. Petros, H. Bönigk, and C. Pfrepper. "Thrombin generation measured with ST Genesia in patients undergoing thrombophilia testing." In GTH Congress 2024 – 68th Annual Meeting of the Society of Thrombosis and Haemostasis Research – Building Bridges in Coagulation. Georg Thieme Verlag, 2024. http://dx.doi.org/10.1055/s-0044-1779230.

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Mannuccl, P. M., and A. Tripodl. "DIAGNOSTIC SCREENING OF CONGENITAL THROMBOTIC SYNDROMES." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643717.

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The prevalence of inherited thrombotic syndromes in the general population (1 in 2,500/5,000) appears to be higher than that of inherited bleeding disorders. We have reviewed the problems of their diagnosis and propose a simple screening procedure. The most important candidates far. screening are patients with unexplained venous thromboembolism at ages ofless than 40 years, particularly when thrombotic episodes are recurrent.Screening must start from collectionof the clinical and family history of the propositus and from the exclusion of common acquired forms of thrombophilia. A negative famil
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Abduganieva, Elnorahon, Irina Liverko, Kadirjon T. Boboev, and Shahboshon Ahmedov. "Inherited thrombophilia in the development of thrombotic conditions in patients with COPD." In ERS International Congress 2021 abstracts. European Respiratory Society, 2021. http://dx.doi.org/10.1183/13993003.congress-2021.pa2387.

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