Congenital core myopathies are a clinically and genetically heterogenous group of congenital myopathies that share a specific histopathological feature: areas of reduced oxidative activity in muscle fibers. The relationship between clinical, genetic and morphological characteristics of this group of disorders remains understudied. The aim of this work was to compare clinical presentations and morphological phenotypes of patients with congenital myopathies/myodystrophy to the data yielded by massively parallel exome sequencing. Eight children were included in the study: 2 boys and 6 girls aged 3 to 14 years. Their biopsy material was analyzed by light and electron microscopy. Sequencing was performed on HiSeq2500. Mutations were detected in 7 (87.5%) of 8 participants. Six children had 8 mutations in the genes associated with congenital core myopathies; one patient had 2 mutations in the LAMA2 gene implicated in merosin-deficient muscular dystrophy. The proportions of patients with mutations in RYR1 and SEPN1 were equal (42.86%). Of 10 detected mutations, 3 had not been previously described, including c.7561G>A in RYR1, c.485C>A in SEPN1 and p.Cys1136Arg in LAMA2. The clinical and morphological features of core myopathies suggest that genetic causes of this group of disorders should not be limited to RYR1 and SEPN1 genes only. This necessitates the search for and the study of other genes implicated in congenital myopathies or myodystrophy using state-of-the-art molecular genetic tools.
VIEWS 3511
Process of development of epiretinal membrane (ERM) on the retinal surface of macular area is one of the important problems associated with vitreoretinal pathologies. Up to the present day, there has not been developed an effective method to arrest fibrosis at the early stages of its development. This study aimed to evaluate efficacy and safety of the new combined laser technique designed to treat early idiopathic ERM (stages 0–1). Ninety-two patients aged 64.7 ± 9.6 years (mean) participated in the clinical research. They were divided into three groups: treatment group (n = 32), patients whose ERM was treated following the new combined laser technique; comparison group (n = 30), patients who underwent grid laser coagulation; control group (n = 30), no treatment, observation of the natural course. Based on the results of examination of the patients, we assessed uncorrected visual acuity, best corrected visual acuity, central retinal thickness, central retinal sensitivity. Assessed against the results registered in comparison and control groups, the developed combined laser treatment technique applied in the treatment group proved to be highly effective in maintaining/improving visual functional indicators and stabilizing/improving morphofunctional indicators throughout the entire period of observation. As pertains to the morphological and functional structures of sensory retina, the technique enabled retinal sensitivity improvement at different stages of observation, which reflects its safety and efficacy.
VIEWS 3213
The problem of complications arising after dental implantation is still relevant. The aim of the work was to investigate the effect of various types of removable appliances and dental implants on the oral microbiocenosis during orthopedic treatment of 64 people: 12 patients of the first index group, 40 patients of the second index group and 12 people of the control group. 6 months after the implants were installed, as a result of a microbiological study of the oral cavity, the differences were found in the qualitative composition of the microflora of the mucous membrane around the neck of the dental implant. In the first index group representatives of normal microflora prevailed. In 100% of cases Streptococcus vestibularis was isolated, from more than half patients S. oralis, S. mitis, Rothia mucilaginosa were isolated, S. gordonii was isolated from one patient. In the second index group, a significant diversity of microbial species was observed, including enterobacteria, which were isolated from 22.5% of the examined patients. In the control group, in addition to representatives of the normal microflora of the oral mucosa S. vestibularis (75.5%), S. oralis (50.0%), Neisseria subflava (66.7%) and Haemophylus parainfluenzae (50.0%) were found. From all patients of the control groups S. gordonii was isolated, as well as the other potentially pathogenic streptococci species, S. anginosus and S. constellatus by 66.7%. The type of removable appliances and dental implants used affects the microflora composition of the oral cavity, and, consequently, the further prognosis and the risk of complications. Collapsible dental implant supported removable prosthetic appliances with a metal frame and fixing elements, telescopic crowns and clasps less than other types of prosthetic appliances change the qualitative composition of the microflora of the oral mucosa around the neck of the dental implant.
VIEWS 3504