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Vestn Oftalmol ; 135(3): 78-89, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31393450


The article presents a clinical case of Fabry's disease accompanied by changes in the eye and gives detailed description of standard ophthalmological examination and results of some modern methods of assessing macro- and micro-structure of certain ocular tissues. Fabry's disease (also known as Anderson-Fabry disease, diffuse angiokeratoma of the body, hereditary dystonic lipidosis) is a progressive hereditary multi-systemic disease; more specifically, it is a progressive congenital defect in the metabolism of tissues of the human body. It is included in the list of orphan diseases. One of its local manifestations is development of dystrophic changes in the structure of the cornea with tendency to progress. Early diagnosis of Fabry's disease is crucial, but its extensive and 'mixed' symptoms often mask the true causes of pathological changes, which leads to late diagnosis.

Doença de Fabry , Córnea , Humanos
Kardiologiia ; 55(4): 36-40, 2015.
Artigo em Russo | MEDLINE | ID: mdl-26502501


Results of an observational study. devoted to prevention of thromboembolic complications in patients with atrial fibrillation undergoing catheter pulmonary vein atrium isolation are discussed. Patients (n= 199) were divided into two comparable groups depending on the anticoagulant (rivaroxaban or warfarin) used. Clinical thromboembolic and/or hemorrhagic complications as well as rate of development of asymptomatic cerebral thromboembolisms in various periods after procedure were assessed. Main conclusion: rivaroxaban was not inferior to warfarin for thromboprophylaxis in patients with atrial fibrillation undergoing catheter pulmonary vein antrum isolation.

Fibrilação Atrial , Ablação por Cateter/métodos , Veias Pulmonares , Rivaroxabana , Tromboembolia , Varfarina , Anticoagulantes/administração & dosagem , Anticoagulantes/efeitos adversos , Fibrilação Atrial/complicações , Fibrilação Atrial/terapia , Monitoramento de Medicamentos/métodos , Feminino , Hemorragia/induzido quimicamente , Hemorragia/prevenção & controle , Humanos , Masculino , Pessoa de Meia-Idade , Moscou , Período Perioperatório/métodos , Veias Pulmonares/patologia , Veias Pulmonares/cirurgia , Rivaroxabana/administração & dosagem , Rivaroxabana/efeitos adversos , Tromboembolia/etiologia , Tromboembolia/prevenção & controle , Resultado do Tratamento , Varfarina/administração & dosagem , Varfarina/efeitos adversos
Kardiologiia ; 55(12): 70-76, 2015 12.
Artigo em Russo | MEDLINE | ID: mdl-28294768


AIM: to elucidate contribution of atrial fibrillation (AF) to mortality from various causes among men and women in Russia. MATERIAL AND METHODS: We analyzed data from samples of population of Moscow and Petersburg (Leningrad) aged 35-74 years examined in different years. Total number of subjects was 20045 (15107 men), response rate was 75%. Examination was carried out according to unified protocol incorporating collection of standard information on social and demographic parameters, smoking status and alcohol consumption, history.

Fibrilação Atrial/fisiopatologia , Mortalidade , Adulto , Fibrilação Atrial/mortalidade , Demografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Moscou , Federação Russa
Kardiologiia ; 51(5): 50-61, 2011.
Artigo em Russo | MEDLINE | ID: mdl-21649595


Inherited long QT syndrome (LQTS) refers to the primary electrical diseases of the heart. It is characterized by QT prolongation on resting ECG and syncope due to life-threatening ventricular arrhythmias. This review focuses on diagnosis, differential diagnosis, risk stratification of sudden cardiac death, and treatment strategy of patients with most prevalent genetic fOrms of LQTS - LQT1, LQT2 and LQT3, which accounted for about 90% of all genetically confirmed cases. Recent advances in understanding of relationship between clinical, electrocardiographic features (on ECG, body surface mapping, stress test) and genetic variants of LQT presented. Characteristics of syncopal events and ECG features of LQTl, LQT2 and LQT3 in the majority of cases are helpful to make an appropriate choice for therapy, even before positive result of molecular genetic testing. Management has focused on the use of beta blockers as first-line treatment and exclusion of triggers of life-threatening arrhythmia which are specific for each molecular-genetic variant. Implantation of cardioverter defibrillator for secondary prevention of sudden death in the high-risk patients or patients with insufficient effect of antiarrhythmic therapy is required.

Morte Súbita Cardíaca/prevenção & controle , Eletrocardiografia , Testes Genéticos/história , Síndrome do QT Longo , Medição de Risco/métodos , Antiarrítmicos/uso terapêutico , Morte Súbita Cardíaca/etiologia , Desfibriladores Implantáveis , Diagnóstico Diferencial , Estudos de Associação Genética/história , Predisposição Genética para Doença , História do Século XX , História do Século XXI , Humanos , Síndrome do QT Longo/congênito , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/história , Síndrome do QT Longo/mortalidade , Síndrome do QT Longo/fisiopatologia , Síndrome do QT Longo/terapia , Conduta do Tratamento Medicamentoso , Medicina de Precisão/tendências , Medição de Risco/normas , Comportamento de Redução do Risco , Prevenção Secundária , Índice de Gravidade de Doença , Síncope/fisiopatologia , Complexos Ventriculares Prematuros/fisiopatologia
Kardiologiia ; 48(9): 34-42, 2008.
Artigo em Russo | MEDLINE | ID: mdl-18991818


Gene expression level of 2900 genes was studied by cDNA microarray in patients with atrial fibril-lation (AF) or sinus rhythm. Gene transcripts were analysed in samples of right atrial appendages from 47 patients undergoing surgery for valve repair or coronary artery bypass. Standard correlation analysis and two dimensional hierarchical clustering were used for study of differentially expressed genes in patient groups. A highly positive correlation of gene expression with AF was shown for cardiac muscle LIM domain protein (CSRP3), cardiac muscle myosin heavy chain beta isoform (MYH7), calmodulin (CALMS) and homeobox protein (PKNOXl) genes (r > 0.77, p < 0.007). In contrast, metallothionein (MT1/2), mitochondrial aldehyde dehydrogenase 2 (ALDH2), ras-related protein (RaplA) and guanine nucleotide binding protein G (GNAL) genes revealed highly negative correlation with AF (r < -0.75, p < 0.002). Alterations of gene activity were more evident at permanent as compared with paroxysmal AF. In addition, genes overexpressed in AF patients demonstrated underexpression in coronary artery disease patients (r=-0.8, p=0.0002) and conversely. Genes correlating with AF belong to different functional categories, including sarcomere organization, contraction, Ca2+ homeostasis, signaling and transcription regulation, extracellular matrix interactions and oxidative stress. Downregulation of MT1/2 and ALDH2 genes, known protectors against oxidative stress, may contribute to maintenance of oxidative stress in myocardial tissues of AF patients. The identification of novel genes - participants of pathological process in AF may open new perspective for search of therapeutic agents.

Apêndice Atrial/metabolismo , Fibrilação Atrial/genética , DNA Complementar/genética , Expressão Gênica , Proteínas Musculares/genética , Miócitos Cardíacos/metabolismo , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Adulto , Idoso , Apêndice Atrial/patologia , Fibrilação Atrial/metabolismo , Fibrilação Atrial/patologia , Feminino , Perfilação da Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Musculares/biossíntese , Miócitos Cardíacos/patologia , Reprodutibilidade dos Testes