20 research outputs found

    Steroid-resistant nephrotic syndrome in a child associated with a mutation in the INF2 gene

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    The aim of the study is to present a clinical case of steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis associated with the c.1280_1285delCACCCC mutation in the INF2 gene, localized on chromosome 14 in a 15-year-old childЦель работы – представить клинический случай стероидрезистентного нефротического синдрома с фокально-сегментарным гломерулосклерозом, ассоциированного с мутацией c.1280_1285delCACCCC в гене INF2, локализованном в 14 хромосоме у ребенка 15 лет

    Use of anticoagulants and antiplatelet agents in stable outpatients with coronary artery disease and atrial fibrillation. International CLARIFY registry

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    GPIIB ALLELIC POLYMORPHISM AS A FACTOR ASSOCIATED WITH THE PROBABILITY OF IMMUNE THROMBOCYTOPENIA AND THE SEVERITY OF HEMORRHAGIC SYNDROME

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    Russian Scientific Research Institute of Hematology and Transfusiology under the Federal Medico-Biological Agency; 16 Vtoraya Sovetskaya St., 191024 Saint Petersburg, RussiaPolymorphism of platelet glycoproteins GPIIIa (T1565C), GPIba (T434C), GPIIb (T2622G) and GPIa (A1648G) genes, responsible for the formation of alloantigenic platelet systems HPA-1, -2, -3 and -5, in patients with chronic immune thrombocytopenia (ITP) and in control group (CG) was investigated. Among ITP patients, the proportion of homozygotes of the GPIIb 2622 GG (HPA-3b/3b) gene was more than 2 times higher than in CG: 23.9 % versus 11.4 % (odds ratio (OR) = 2.4, 95 % confidence interval (CI): 1.0–5.8, p = 0.05). The frequency of HPA-3a/3a (GPIIb 2622TT,843Ile/Ile) genotype was higher in ITP patients with 2–3rd degrees of hemorrhagic syndrome (HS): 55.6% versus 25.0% in the group with 0–1st degree of HS (OR = 3.8, 95 % CI: 1.3–10.7, p = 0.02). The obtained data suggest the effect of T2622G polymorphism GPIIb gene both on development of disease (2622 GG genotype), and on serious manifestations of HS (2622 TT genotype), which allows considering this polymorphism as unfavorable prognostic criterion in ITP patients
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