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This study quantitatively assesses the consequences arising from the liberalization of the regional market in the EAEU member states for the exports of the Republic of Uzbekistan using a number of ...trade indicators, including Balassa index of revealed comparative advantage, the regional orientation index and others. It is shown that for a significant part of the exports of the Republic of Uzbekistan, the reduction in trade barriers (in particular, nontariff measures of customs regulation) will have a positive effect, i.e., it will contribute to the growth of exports to the Member States of the Union. It is also demonstrated that the main part of the export from the Republic of Uzbekistan does not compete with the export of the EAEU member states in the markets of third countries.
The study of the production of hyperons in heavy-ion collisions at NICA energies is among the principal goals in the scientific program of the MPD experiment. In this paper, the details of the ...hyperon reconstruction procedure as well as MPD detector performance for the measurements of the hyperon production in centrality selected Au + Au collisions are presented. The investigation has been performed at the Laboratory of High Energy Physics, JINR.
Collaborative filtering is a powerful marketing tool capable of improving the customer experience and increasing sales. Segmentation of the customer base by collaborative filtering assumes that those ...interested in specific products will also be interested in similar products. The basic methods of collaborative filtering are analyzed in the present work. The analysis reveals what factors affect the selection of a collaborative filtering method in segmentation of the retail customer base.
The concept of innovative development allows enterprises to introduce new approaches in pursuit of competitive advantage and sustainable development. The concept of the digital factory encompasses ...the digitization of the whole product life cycle and the development of digital models of the products and production processes so as to improve the enterprise’s global competitiveness. The introduction of this concept at enterprises is a lengthy process and must be completed in stages. In the present research, key elements in the concept of a smart factory are identified, and the basic stages in its introduction are proposed. This schema may be adapted to the specific conditions and needs of the enterprise.
Inherited retinal diseases (IRDs) constitute a prevalent group of inherited ocular disorders characterized by marked genetic diversity alongside moderate clinical variability. Among these, ...ABCA4-related eye pathology stands as a prominent form affecting the retina. In this study, we conducted an in-depth analysis of 96 patients harboring ABCA4 variants in the European part of Russia. Notably, the complex allele c.1622T>C;3113C>T (p.Leu541Pro;Ala1038Val, or L541P;A1038V) and the variant c.5882G>A (p.Gly1961Glu or G1961E) emerged as primary contributors to this ocular pathology within this population. Additionally, we elucidated distinct disease progression characteristics associated with the G1961E variant. Furthermore, our investigation revealed that patients with loss-of-function variants in ABCA4 were more inclined to develop phenotypes distinct from Stargardt disease. These findings provide crucial insights into the genetic and clinical landscape of ABCA4-related retinal dystrophies in this specific population.
This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the ...patient’s phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations alongside karyotyping and Sanger sequencing of the PAX6 gene. The patient exhibited distinctive features associated with both congenital aniridia and Down syndrome, suggesting a potential exacerbation of their effects. Cytogenetic and molecular genetic analysis revealed the presence of trisomy 21 and a known pathogenic nonsense variant in exon 6 of the PAX6 gene (c.282C>A, p.(Cys94*)) corresponding to the paired domain of the protein. The observation of these two hereditary anomalies offers valuable insights into the molecular pathogenetic mechanisms underlying each condition. Additionally, it provides a basis for a more nuanced prognosis of the complex disease course in this patient. This case underscores the importance of considering interactions between different genetic disorders in clinical assessments and treatment planning.
Simulations of peripheral
collisions at NICA energies are performed in the PHSD transport model. The properties of velocity and vorticity fields, as well as hydrodynamic helicity, are studied in ...dependence on the impact parameter and energy. There is a region of the velocity field that follows the Little Bang pattern, which may be quantified by Hubble’s law. Quadrupole structures of the vorticity field in all planes are obtained. The effect of helicity separation is found in the PHSD model. A calculation of
‑hyperon polarization is performed in the thermodynamic and anomalous models at NICA energies.
Phenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies and ...the incidence of the disease itself varies from country to country. In the Caucasus region of Russia, some ethnoses are geographically and culturally isolated from each other. The tradition of monoethnic marriages may cause decreased genetic variability in those populations. In the Karachay-Cherkess Republic (Russia), the highest incidence of phenylketonuria in the world has been detected (1:850 newborns) in the region and 1:332 among the titular nation Karachays. Here, we showed that this phenomenon is due to the widespread prevalence of the p.Arg261* variant. Its allele frequency among Karachay patients with PKU was 68.4% and the carrier frequency in Karachays was 1:16 healthy individuals. PAH haplotype analysis showed a unique common origin. The founder haplotype and mutation "age" were estimated by analyzing the linkage disequilibrium between p.Arg261* and extragenic short tandem repeat loci. The p.Arg261* variant occurred in the Karachays population 10.2 ± 2.7 generations ago (275 ± 73 years) and its spread occurred in parallel with the growth of the population.
This study, conducted in the Republic of North Ossetia-Alania (RNOA), aimed to explore the genetic landscape of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) in the Ossetian population using ...data from newborn screening (NBS). Through comprehensive molecular genetic analysis of 29 patients with HPA from diverse ethnic backgrounds, two major genetic variants in the
gene, P281L and P211T, were identified, constituting 50% of all detected pathogenic alleles in Ossetian patients. Remarkably, these variants exhibited an exceptionally high frequency in the Ossetian population, surpassing global prevalence rates. This study unveiled a notable prevalence of mild forms of HPA (78%), underscoring the importance of genetic counseling for carriers of pathogenic variants in the
gene. Moreover, the findings emphasized the necessity for ongoing monitoring of patients with mild forms, as they may lack significant symptoms for diagnosis, potentially impacting offspring. Overall, this research offers valuable insights into the genetic landscape of HPA and PKU in the Ossetian population.
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