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1.
Artigo em Russo | MEDLINE | ID: mdl-32790988

RESUMO

A systematic review of association studies on the role of single nucleotide variants (SNVs) of the dopaminergic system genes on the effectiveness of clozapine in schizophrenia has been perfromed. A search of literature was conducted in PubMed, MedLine, Web of Science Core Collection (Clarivate Analytics), Web of Science, Russian Science Citation Index, Scopus, Scientific Research, Google Scholar, Oxford Press, e-Library from 1995-2019. Association studies of 53 SNPs of genes encoding dopamine receptor isoforms (DRD1), dopamine transporter (SCL6A3) and catechol-O- methyltransferase (COMT), and the nature of their association with the therapeutic response to clozapine were analyzed. The results of SNPs studies of DRD1 and COMT genes are the most controversial. This can be explained by the heterogeneity of the samples and the lack of standardization of methods for evaluating the effectiveness of treatment in the context of association studies. The clear population specificity of the association of some SNPs of DRD1, DRD2 and DRD3 genes with the response to clozapine therapy has been shown. Most of the identified associations are haplotype specific. The obtained regularities of the effect of SNPs of dopaminergic system genes on the effectiveness of clozapine therapy should be considered in an individual approach to treatment of schizophrenia.


Assuntos
Clozapina , Esquizofrenia , Catecol O-Metiltransferase/genética , Dopamina , Genótipo , Humanos , Farmacogenética , Polimorfismo de Nucleotídeo Único , Federação Russa
2.
Vestn Oftalmol ; 136(2): 49-55, 2020.
Artigo em Russo | MEDLINE | ID: mdl-32366070

RESUMO

INTRODUCTION: Studying the factors that contribute to the disturbance of transmembrane pressure gradient is a topical task in the research of pathogenesis of normal-tension glaucoma (NTG). PURPOSE: To measure and compare the thickness and depth of lamina cribrosa (LCT and LCD), as well as optic nerve subarachnoid space width (ONSASW) in patients with NTG and healthy individuals. MATERIAL AND METHODS: The first group included 12 patients (23 eyes) aged from 58 to 74 years (average age 66.8±3.2 years) with NTG who all had normal intraocular pressure and arterial hypotension. The second (control) group consisted of 11 healthy individuals (22 eyes) aged from 51 to 69 years (average age 56.2±4.2 years). All patients underwent structural and functional assessment of the optic nerve head using OCT RTVue-100 (Optovue, USA), as well as Humphrey Visual Field Analyzer (HFA II 745i, Germany-USA) and our modification of Frequency Doubling Technology perimetry. In all subjects the central corneal thickness (CCT) was measured by Pentacam HR (Oculus, Germany), the LCT and LCD were measured by EDI (Enhanced Depth Imaging) mode of Topcon 3D OCT 2000 (Japan). To measure the ONSASW we used a cross-sectional image of the optic nerve taken 3 mm behind the eyeball with Magnetic Resonance Imaging (Siemens Magnetom Symphony 1.5 T, Germany). RESULTS: Statistically significant difference was found between the 1st and 2nd groups in the average LCT (217.60±36.92 and 345.86±33.29 µm respectively; p=0.0000), LCD (435.00±86.31 and 367.31±87.00 µm, respectively; p=0.014) and ONSASW (1.27±0.13 and 1.44±0.19 mm respectively; p=0.004); the difference wasn't significant in the average CCT (543.26±31.52 and 557.50±24.92 µm respectively; p=0.11). CONCLUSION: Patients with NTG had significantly higher value of the LCD with significantly lower values of the LCT and ONSASW compared with healthy individuals, which confirms the importance of these morphometric criteria in the study of NTG pathogenesis.


Assuntos
Glaucoma de Baixa Tensão , Campos Visuais , Idoso , Estudos Transversais , Humanos , Pressão Intraocular , Pessoa de Meia-Idade , Tomografia de Coerência Óptica
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