M, et al. Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients. Blood 1998; 91: 3562-5.
28. Burzotta F, Paciaroni K, De Stefano V, Chiusolo P, Manzoli A, Casorelli I, et al. Increased prevalence of the G20210A prothrombin gene variant in acute coronary syndromes without metabolic or acquiredriskfactors or with limited extent of disease. Eur Heart J 2002; 23: 26-30.
29. Manco-Johnson MJ, Grabowski EF, Hellgreen M, Kemahli AS, Massicotte MP, Muntean W, et al. Labo ratory testing
Thrombophilia is a multifactorial disorder, involving both genetic and acquired risk factors that affect the balance between procoagulant and anticoagulant factors and lead to increased thrombotic tendency. The severe forms of thrombophilia are caused by a deficiency of natural anticoagulants: antithrombin, protein C and protein S. The advances in DNA technology played an important role in the identification of the exact nature of these deficiencies and opened up new possibilities in genetic research and molecular diagnostics of thrombophilia. The major breakthrough came with the discovery of activated protein C resistance and the Factor V Leiden gene mutation. Shortly afterwards, a variant in the 3’ untranslated region of the Factor II gene (FII G20210A) associated with an increased concentration of Factor II in plasma was described. These two gene variants represent the most common thrombophilic genetic risk factors. Recently, a novel prothrombin mutation (c.1787G>T) was identified in a Japanese family with juvenile thrombosis. This mutation leads to impaired inhibition of mutant thrombin by antithrombin, proposing a new mechanism of thrombophilia named resistance to antithrombin. In the last decade, several prothrombotic genetic risk factors have been described, including gene variants associated with defects of natural coagulation inhibitors, increased levels of coagulation factors or their impaired inhibition and defects of the fibrinolytic system. However, most of them are not of diagnostic value, due to their minor or unknown impact on the thrombotic risk. Large-scale DNA analysis systems are now becoming available, opening a new era in the genetic studies of the molecular basis of thrombophilia.
7. Sarasquete ME, Gonzalez M, San Miguel JF, Garcıa-Sanz R. Bisphosphonate-related osteonecrosis: genetic and acquiredriskfactors. Oral Dis. 2009;15:382-387.
8. Arce K, Assael LA, Weissman JL, Markiewicz MR. Imaging Findings in Bisphosphonate-Related Osteonecrosis of Jaws. American Association of Oral and Maxillofacial Surgeons. 2009:76-78.
9. Ferrara F, Califano L. Current perspectives in the management of patients with drug-induced osteonecrosis of the maxilla: experience of the school of Naples. BMC Geriatrics. 2010;10(supl.10
R Robeva, D Tanev, S Andonova, M Nikolova, A Tomova, Ph Kumanov, A Savov, R Rashkov and Zl Kolarov
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27 Summers CM, Cucchiara AJ, Nackos E, Hammons AL, Mohr E, Whitehead AS, et al . Functional polymorphisms of folate-metabolizing enzymes in relation to homocysteine concentrations in systemic lupus erythematosus. J Rheumatol. 2008; 35(11): 2179-2186. 10.3899/jrheum.080071 Summers CM Cucchiara AJ
Tomislav Badel, Jadranka Keros, Ladislav Krapac and Ivana Pavičin
, García-Sanz R. Bisphosphonate-related osteonecrosis: genetic and acquiredriskfactors. Oral Dis 2009;15:382-7.
Viccica G, Vignali E, Marcocci C. Role of the cholesterol biosynthetic pathway in osteoblastic differentiation. J Endocrinol Invest 2007;30(Suppl 6):8-12.
Lehrer S, Montazem A, Ramanathan L, Pessin-Minsley M, Pfail J, Stock RG, Kogan R. Bisphosphonate-induced osteonecrosis of the jaws, bone markers, and a hypothesized candidate gene. J Oral Maxillofac Surg 2009;67:159-61.
Jernej Avsenik, Janja Pretnar Oblak and Katarina Surlan Popovic
Due to the diversity of underlying factors and the absence of a uniform treatment approach, diagnosis and management of patients with cerebral venous sinus thrombosis (CVST) remain a challenging task. 1 CVST represents 0.5% to 1% of all strokes and affects approximately 5 patients per million every year, but has a higher frequency among younger patients. 1 - 3 Typical acquiredriskfactors include recent surgery, trauma, pregnancy, postpartum state, antiphospholipid syndrome, cancer and use of oral contraceptives. Cases of inherited