A5020219281- Intraocular Surgery and Lenses
- Connexins and lens biology
- Corneal Surgery and Treatments
- Glaucoma and retinal disorders
- Corneal surgery and disorders
- Developmental Biology and Gene Regulation
- Renal and related cancers
- Genomics and Chromatin Dynamics
- Ocular Surface and Contact Lens
- Ocular Diseases and Behçet’s Syndrome
- Traumatic Ocular and Foreign Body Injuries
- Nanoparticle-Based Drug Delivery
- Ophthalmology and Visual Impairment Studies
- Mass Spectrometry Techniques and Applications
- Retinal and Optic Conditions
- Advanced Proteomics Techniques and Applications
- Protein Interaction Studies and Fluorescence Analysis
- Animal Genetics and Reproduction
- Chemotherapy-induced cardiotoxicity and mitigation
- Metabolomics and Mass Spectrometry Studies
- Pharmacological Effects of Natural Compounds
- Medical and Biological Sciences
- CNS Lymphoma Diagnosis and Treatment
- Phytochemistry and biological activity of medicinal plants
- Leech Biology and Applications
Intersectoral Research and Technology Complex Eye Microsurgery
2010-2024
Ministry of Health of the Russian Federation
2024
Lomonosov Moscow State University
2023
Institute of Biomedical Chemistry
2011-2015
Russian Academy of Sciences
2011-2012
Academy of Medical Sciences
2011
D. Mendeleyev University of Chemical Technology of Russia
2010
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of study was to investigate mutational and clinical spectra cohort 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 were diagnosed 7 WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome). presentation varied complete bilateral...
BackgroundAniridia is a severe autosomal dominant panocular disorder associated with pathogenic sequence variants of the PAX6 gene or 11p13 chromosomal aberrations encompassing coding and/or regulatory regions in heterozygous state. Patients aniridia display several ocular anomalies including foveal hypoplasia, cataract, keratopathy, and glaucoma, which can vary severity combination.MethodsA cohort 155 patients from 125 unrelated families identified point (118 patients) large deletions (37...
In metabolomics, a large number of small molecules can be detected in single run. However, metabolomic data do not include the absolute concentrations each metabolite. Generally, mass spectrometry analyses provide metabolite that are derived from peak intensities, and intensities strictly dependent on type spectrometer used, as well technical characteristics, options protocols applied. To convert to actual concentrations, calibration curves have generated for metabolite, this represents...
Abstract Background Mutations in CRYAA , which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes. Results In this study, we performed clinical examination and subsequent genetic analysis two unrelated sporadic cases different geographical origins presenting complex phenotype ocular malformation. Both manifested bilateral microphthalmia severe anterior segment dysgenesis, primarily characterized by aphakia, microcornea, iris...
Abstract WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development Wilms’ tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It associated with WAGR-region deletions in the 11p13 chromosome region. Our previous study congenital aniridia patients revealed noticeable number but without their medical history. We assessed involvement other neighboring genes from affected regions tumor. Reliable confidence was...
Congenital aniridia (AN) is a severe autosomal dominant panocular disorder associated with pathogenic variants in the PAX6 gene. Previously, we performed molecular genetic study of large cohort Russian patients AN and revealed four noncoding nucleotide 5'UTR. 14 additional PAX6-5'UTR were also reported literature, but mechanism their pathogenicity remained unclear. In present study, experimentally analyze five patient-derived 5'UTR-variants: that identified (c.-128-2delA, c.-125dupG,...
This study investigates the distribution of PAX6-associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while characterizing PAX6 gene variants. We contribute novel pathogenic variants 11p13 chromosome region rearrangements to international databases based on a cohort 379 AN patients (295 families, 295 probands) in Russia. detail 100 newly characterized families (129 patients) recruited from clinical practice specialized screening studies. Our...
Congenital aniridia (AN) is a hereditary autosomal dominant developmental disorder of the eye. Heterozygous mutations in PAX6 gene and chromosomal rearrangements involving 11p13 locus lie behind pathogenesis AN. The key role regulation embryogenesis pleiotropic effect this transcription factor explain damage several tissues anterior posterior segments eye, brain structures, disturbance morphogenesis endocrine function pancreas observed Recently AN has been considered syndromic pathology by...
The drug composition based on the plant phospholipids and antitumor doxorubicin (particle size <30 nm) was obtained using original technology elaborated in Institute of Biomedical Chemistry (Russian Academy Medical Sciences). In vitro experiments demonstrated decreased association with blood cells for this nanophospholipid form as compared free doxorubicin. This accompanied by a corresponding increase its plasma level ans also redistribution from protein fraction to high density...
to conduct a comparative analysis of the value information provided by anterior segment optical coherence tomography (AS-OCT) and in vivo confocal laser scanning microscopy (CLSM) for identifying palisades Vogt (POV) normal limbus.POV were studied 15 healthy participants (30 eyes) without any disease. Two examination methods used: AS-OCT En Face imaging (RTVue XR Avanti, 3D Cornea protocol) CLSM (HRT3). Concordance results was then analyzed.Structural features POV distinguishable both...
Aim. The objective of the present study was to elucidate specific features clinical picture congenital aniridia in children and adolescents determine frequency complications this pathology Russian Federation. Materials methods. involved 37 at age below 18 years (74 eyes) who were recruited from unrelated families diagnosed as having Cheboksarsky branch S.N. Fedorov Federal State Institute Eye Microsurgery. All underwent comprehensive ophthalmological examination based institution that...
Calculation of toric intraocular lenses (tIOLs) in patients after penetrating keratoplasty (PK) is challenging. The study aimed to perform comparative retrospective analysis various methods for calculation tIOL during phacoemulsification PK. We analyzed case reports 36 eyes (36 patients) PK, which underwent with implantation. All tIOLs were recalculated using four different methods. In group 1, was performed keratometry data the anterior surface corneal graft measured a topographer, and...
Glycyrrhizic acid (GL) - one of the active components Russian drug formulation "Phosphogliv" possesses extremely low bioavailability. A sensitive method for GL determination in blood using high performance liquid chromatography coupled with mass-spectrometry (HPLC-MS) has been developed order to investigate absorption characteristics glycyrrhizic after peroral administration and sodium salt. Separation was achieved on analytical reverse-phase column C18 "EcoNova" ProntoSIL, a gradient mode....
Relevance: currently, micropulse transscleral cyclophotocoagulation is widely used for the treatment of refractory glaucoma. It has a high safety profile and can be applied to eyes with visual potential. Continuous-wave more pronounced hypotensive effect; however, it accompanied by significant number complications. During cyclophotocoagulation, suggested use standard position sensor, though ciliary processes may vary. Purpose: analyze effectiveness combined technique using transillumination....
Relevance. One of the possible ways to accelerate reparation and regeneration damaged cornea in early stages burn disease is use drugs containing biologically active substances secreted by cells. Purpose. To evaluate effect a solution growth factors from activated platelets on reparative properties rats with thermal eye flame. Material methods. An experimental study was conducted 40 (40 eyes). A (LLC Melsytech, Dzerzhinsk) used as local therapy for burns main group (20 eyes), 0.9% NaCl...
Introduction. The use of invasive methods for diagnosing primary diffuse large B-cell lymphoma the central nervous system (PDLBCL CNS) and vitreoretinal (PVRL) is often associated with development severe neurological deficits disability patients. A promising direction in diagnosis PDLBCL CNS PVRL non-invasive approaches based on molecular genetic determination mutations MYD88 gene cerebrospinal fluid (CSF), vitreous (VF) free circulating tumor DNA (cfDNA) blood serum. Aim: to present...