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Background Lactase persistence — the ability to digest lactose through adulthood — is closely related to evolutionary adaptations and has affected many populations since the beginning of cattle breeding. Nevertheless, the contrast initial phenotype, lactase non-persistence or adult lactase deficiency, is still affecting large numbers of people worldwide. Methods We performed the largest multiethnic genetic study of lactase deficiency on 24439 people in Russia to date. The percent of each population group was estimated according to the local ancestry inference results. Additionally, we calculated frequencies of rs4988235 GG genotype in Russian regions using the information of current location and birthplace data in client’s questionnaire. Results It turned out that among all studied population groups the frequency of GG genotype in rs4988235 was higher than in average in the European populations. In particular, the prevalence of lactase deficiency genotype in the East Slavs group was 42.8% (95% CI: 42.1–43.4%). We also investigated the regional prevalence of lactase deficiency by current place of residence. Conclusions Our study emphasizes the diagnostic significance of genetic testing, i.e. specifically for lactose intolerance parameter, as well as the scale of the problem of lactase deficiency in Russia which needs to be addressed by healthcare and food industry.

The Minusinsk Basin in Southern Siberia had unique conditions for the development of ancient societies, thanks to its geographical location, favorable climatic conditions, and relative isolation. Located at the northern periphery of the eastern Eurasian steppe, surrounded by the Altai-Sayan Mountains this area witnessed numerous ancient human migrations with specific types of interaction between outside and local archaeological cultures. The genomic history of the human population of Southern Siberia from the Chalcolithic to the middle Bronze Age has been relatively well described in the recent genome-wide studies, while the genetic ancestry of populations, represented by diverse archaeological cultures of the Late Bronze and Early Iron Ages, remains a blank spot for modern paleogenomics. Here, for the first time, we present two ancient nuclear genomes of the individuals buried in the Oglakhty cemetery (early Tashtyk culture, 2nd to 4th centuries AD). Our pilot study is undertaken within a multidisciplinary project on this noteworthy site with well-preserved organic remains and provides fresh paleogenomic data on the ancient societies of Southern Siberia.

In our previous study, we found that high doses of several substances with antioxidant capacities (Tempol, resveratrol, diphenyleneiodonium) can cause genotoxic stress and induce premature senescence in the human mesenchymal stem cells (MSCs). Here, using whole-transcriptome analysis, we revealed the signs of endoplasmic reticulum stress and unfolded protein response (UPR) in MSCs stressed with Tempol and resveratrol. In addition, we found the upregulation of genes, coding the UPR downstream target APC/C, and E3 ubiquitin ligase that regulate the stability of cell cycle proteins. We performed the molecular analysis, which further confirmed the untimely degradation of APC/C targets (cyclin A, geminin, and Emi1) in MSCs treated with antioxidants. Human fibroblasts responded to antioxidant applications similarly. We conclude that endoplasmic reticulum stress and impaired DNA synthesis regulation can be considered as potential triggers of cell damage and premature senescence stimulated by high-dose antioxidant treatments.

The features of physical and mechanical properties of trees (Pinus sylvestris L. and Larix sibirica Ledeb.) are investigated in experimental mixed forest plantations created by sowing in the Irkutsk region. Saw cuts were taken in the butt part of model trees to determine the properties of wood. The studies were carried out according to generally accepted methods on certified equipment. According to the research it has been found that the average width of the annual layers of pine and larch is 3.54 mm and 2.93 mm, respectively. The average number of annual layers in one centimeter is from 3.42 to 3.61 mm, which is 3.24 and 3.73 times less than the average statistical data for these tree species. It allows us to conclude: the width of the annual layer is significantly greater in the first 20 years of forest plant life than in mature state. Strength indicators of the studied samples of pine and larch are lower by 12-30 % than standard ones. During mechanical tests, wood defects were found in the butt part of the larch, which led to the destruction of the specimens. These defects were dormant bud marks and bulging butt, which form at a fairly early age. Conditional density of pine and larch was determined using the Resistograph 4450 instrument for an additional qualitative assessment of wood. As a result of the studies, it can be concluded that strength characteristics of pine and larch in mixed plantations are quite high.

The purpose of the conducted experimental studies is to examine the effect of various influences on the object of study. These effects are called factors. Some of them vary while examining of the object and then they are called variable factors. Each factor takes one or more values in the experiment and then they are called factor levels. The set of values of this factor is called range of factor values – the smallest interval, where are all the values accepted by this factor in the experiment. According to GOST 19222-84, the dependence of the physical-mechanical characteristics of sawdust slag concrete (grade M10) on the specific gravity (share) of wet sawdust of coniferous species and ash-slag mixture in the composition was studied. Regression analysis was used to build a mathematical model of the process with quantitative factors, to verify its adequacy, and to assess the impact of each variable factor on the process. To obtain regression dependencies, a composite second-order B-plan was implemented.

Background Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous mutations are affected, while hemizygous males are not. Case presentation We describe the clinical and molecular characteristics of 2 Russian patients with EIEE9 (females, ages 3 years and 7 years). In these patients seizures developed at the age of 3 years. Additionally, for our patients and for cases described in the literature we searched for a possible relationship between the type and localization of the mutation and the EIEE9 clinical phenotype. Conclusions We identified two novel PCDH19 mutations in EIEE9 patients: a missense mutation in exon 1 (c.1236C > A, p.Asp412Glu) and a frameshift in exon 3 (c.2386_2387insGTCT, p.Thr796fs). We conclude that the age of seizure onset and the presence of intellectual disability may depend not on the type and localization of PCDH19 mutations, but on the X-inactivation status. The study also highlights the need to screen for EIEE9 among young female epilepsy patients.

Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues. NCLs are associated with variable age of onset and progressive symptoms including seizures, psychomotor decline, and loss of vision. Methods We describe the clinical and molecular characteristics of four Russian patients with NCL (one female and three males, with ages ranging from 4 to 5 years). The clinical features of these patients include cognitive and motor deterioration, seizures, stereotypies, and magnetic resonance imaging signs of brain atrophy. Exome sequencing was performed to identify the genetic variants of patients with NCL. Additionally, we tested 6,396 healthy Russians for NCL alleles. Results We identified five distinct mutations in four NCL‐associated genes of which two mutations are novel. These include a novel homozygous frameshift mutation in the CLN6 gene, a compound heterozygous missense mutation in the KCTD7 gene, and previously known mutations in KCTD7, TPP1, and MFSD8 genes. Furthermore, we estimated the Russian population carrier frequency of pathogenic and likely pathogenic variants in 13 genes associated with different types of NCL. Conclusion Our study expands the spectrum of mutations in lipofuscinosis. This is the first study to describe the molecular basis of NCLs in Russia and has profound and numerous clinical implications for diagnosis, genetic counseling, genotype–phenotype correlations, and prognosis., 5 distinct mutations were identified in 4 NCL‐caused genes, of which two mutations are novel. Also carrier frequency of pathogenic and likely pathogenic variants in 13 genes associated with different types of NCL were estimated in Russian population.

The rational use of wood cannot be imagined without the use of synthetic resins and adhesives, on the basis of which all the main types of wood composite materials are made. The use of synthetic resins provides: production of high-quality glued products with an increased service life due to strength properties; reducing the material consumption of manufactured products and more complete use of low-grade raw materials; improve the fire, bio - and chemical resistance of manufactured materials. Due to the lower consumption of raw materials for the manufacture of glued parts, their cost is usually lower than that of solid wood parts. The international market of adhesives is represented by a wide range, in which 63% are synthetic adhesives. When wood is processed at pulp and paper enterprises, 40-50 million tons of alkaline lignin, 5 million tons of lignosulfonate, 3.5 million tons of technical hydrolytic lignin are produced annually in the world. In the future, the volume of industrial processing of wood will increase by 50-60% and therefore the issue of disposal of such waste is the most important task. Lignins in the form of various large- tonnage wastes are an environmental and technological problem for many chemical industry enterprises and adjacent residential areas.

The problem of improving the environmental safety of the waste management system of chemical processing of biomass of wood is quite acute in every forest producing and timber processing region. Study of the possibility of using to investigate hydrolytic lignin as a modifier of phenol-formaldehyde resin for the production of plywood have been conducted. Used materials: phenol-formaldehyde resin SFZh-3013; technical hydrolyzed lignin. Mathematical models of the process of pressing glued plywood were developed and the optimal parameters for the production of plywood were determined based on the use of SFZh-3013 resin modified with hydrolytic lignin. The optimal mode of pressing is: the amount of injected hydrolytic lignin in the SFZh-3013 resin grade is 5-10 parts by weight; pressing pressure 1.6 MPa, pressing temperature 135 °C and pressing time 9-10 minutes. The introduction of regimes developed using regression equations, with a sufficient degree of accuracy describing the pressing process, will significantly improve the efficiency of plywood production by saving energy and material costs and preserving product quality.

According to GOST 19222-84, the dependence of the physical-mechanical characteristics of sawdust concrete on the specific gravity of wet sawdust of coniferous species and ash-slag mixture in the composition was studied. A one-factor experiment was carried out in the laboratory of the Department of Reproduction and Processing of Forest Resources, Federal State Budgetary Educational Institution of Higher Education “Bratsk State University” in order to justify the specific share of wet sawdust in the composition of sawdust concrete, to determine the necessary number of observations and repetitions of the experiment. As a variable factor, the proportion of wet sawdust of coniferous species in the composition is assumed. The proportion varies from 17% to 37% in increments of 5%. The applicability of wet sawdust of coniferous species for the production of heat-insulating building materials is established. Samples of building materials were made; the necessary laboratory tests were carried out. The range of variation of sawdust content in the composition for sawdust concrete is determined (from 17 to 32%).

The death of Anthony Kyriacou Antoniou (“Tony”) on Monday, 2 December 2019, at the age of 80 from cancer has, with great sadness, extinguished the light of one of our leading internationally respected physicians in general practice. Tony was born on 15 September 1939 in Cyprus. He came to London with his family in 1951 and was educated at Quintin Kynaston Grammar School in St John’s Wood, London, which was originally in Marylebone. There at the grammar school he walked off with the top prizes in every subject except “woodwork and art.” His sole desire in life was to become a doctor of medicine. Tony chose University College Hospital because of its long history in life sciences and Nobel laureates. The net result of his …