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1.
Ter Arkh ; 95(12): 1128-1132, 2023 Dec 28.
Article in Russian | MEDLINE | ID: mdl-38785052

ABSTRACT

This study is aimed at investigating epileptic seizures, one of the consequences of traumatic brain injury (TBI). Immediate and early post-traumatic seizures, as well as late post-traumatic epileptic seizures or post-traumatic epilepsy, can have different pathogenetic bases. The following key risk factors associated with post-traumatic epilepsy are known: duration of unconsciousness, gunshot wounds, intracranial hemorrhage, diffuse axonal injury, prolonged (more than 3 days) post-traumatic amnesia, acute subdural hematoma with surgical evacuation, immediate and early post-traumatic epileptic seizures, fracture of the skull bones. The role of genetic factors in post-traumatic seizures is poorly understood due to the complexity and multiple causal mechanisms. This paper addresses the role of genetic factors in the occurrence and severity of epileptic events in patients with TBI. In particular, we investigated the role of the Cys112Arg single nucleotide polymorphism of the apolipoprotein E gene. Apolipoprotein E is known for its role in the transport and metabolism of lipids and, therefore, the development of cardiovascular diseases; it is also associated with Alzheimer's disease and has recently been studied in the context of association with epilepsy. The study shows an association between this polymorphism and the risk of immediate and early epileptic seizures in patients with severe TBI.


Subject(s)
Apolipoproteins E , Brain Injuries, Traumatic , Epilepsy, Post-Traumatic , Polymorphism, Single Nucleotide , Humans , Apolipoproteins E/genetics , Brain Injuries, Traumatic/genetics , Brain Injuries, Traumatic/complications , Epilepsy, Post-Traumatic/genetics , Epilepsy, Post-Traumatic/etiology , Genetic Predisposition to Disease , Risk Factors
2.
Pharmgenomics Pers Med ; 13: 29-37, 2020.
Article in English | MEDLINE | ID: mdl-32158254

ABSTRACT

INTRODUCTION: The aim of this study is to assess the influence of gene CYP2C19, CYP3A4, CYP3A5 and ABCB1 polymorphisms on clopidogrel antiplatelet activity, rivaroxaban concentration equilibrium, and clinical outcomes among patients with acute coronary syndrome and non-valvular atrial fibrillation. METHODS: In the multicenter prospective registry study of the efficacy and safety of a combined antithrombotic therapy 103 patients with non-valvular atrial fibrillation both undergoing or not a percutaneous coronary intervention were enrolled. The trial assessed the primary outcomes (major bleeding, in-hospital death, cardiovascular death, stroke\transient ischaemic attack, death/renal insufficiency) and secondary outcomes (platelet reactivity units (PRU), rivaroxaban concentration). RESULTS: For none of the clinical outcomes when combined with other covariates, the carriership of polymorphisms CYP3A5*3 rs776746, CYP2C19*2 rs4244285;*17 rs12248560, ABCB1 3435 C>T, ABCB1 rs4148738 was significant. None of the markers under study (CYP3A5*3 rs776746, CYP2C19*2 rs4244285, *17 rs12248560, ABCB1 3435 C>T, ABCB1 rs4148738) has proven to affect rivaroxaban equilibrium concentration in blood plasma among patients with atrial fibrillation and acute coronary syndrome. CONCLUSION: In situations of double or triple antithrombotic rivaroxaban and clopidogrel therapy among patients with atrial fibrillation and acute coronary syndrome, the genetic factors associated with bleeding complications risk (CYP2C19*17) may prove to be clinically relevant.

3.
Ter Arkh ; 91(8): 115-117, 2019 Aug 15.
Article in Russian | MEDLINE | ID: mdl-32598762

ABSTRACT

MicroRNAs are short non - coding RNAs that correlate with the levels of platelet activation which can be utilized as a biomarker when guiding P2Y12 inhibitors therapy. In this literature review, the perspectives of microRNA as a novel biomarker are discussed when guiding P2Y12 inhibitors therapy among the patients with coronary artery disease.


Subject(s)
Biomarkers , Cytochrome P-450 Enzyme System , MicroRNAs , Purinergic P2Y Receptor Antagonists , Biomarkers/metabolism , Blood Platelets , Cytochrome P-450 Enzyme System/metabolism , Cytochromes , Humans , MicroRNAs/metabolism , Platelet Aggregation Inhibitors , Purinergic P2Y Receptor Antagonists/pharmacology
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