Russian Research Institute for Integrated Water Management and Protection

Abstract Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and postprandial hyperglycemia and hyperlactatemia. GSD 0 is a rare form of hepatic glycogen storage disease with less than 30 reported patients in the literature so far. DNA samples of 93 Russian patients with clinical diagnoses of hepatic GSDs were collected and analyzed by next‐generation sequencing custom target panel and by direct sequencing. Seven new GSD 0 patients with variable phenotypes were found showing 10 variants. Seven variants are novel. We present seven new GSD 0 patients with variable phenotypes. Overall, 10 different mutant alleles of the GYS2 gene were found. Seven of them are novel: c.214delC, c.845delT, c.1644C>A, c.205T>A, c.929G>T, c.1169G>C and c.1703C>A. Three of the novel variants were annotated as pathogenic and likely pathogenic; four other variants have an uncertain significance. The current results expand the spectrum of known mutations in GYS2 and suggest that phenotypes of GSD 0 are more variable and less specific than the reported ones. Synopsis Seven new patients with glycogen storage disease type 0 were found using next‐generation sequencing and seven novel variants of GYS2 gene were annotated.

The data about the synthesis of odor-causing compounds by cyanobacteria and the impact of these compounds on water properties are reviewed. The hypothesis is suggested on the possible relation of production of these compounds to the regulation of the number of cyanobacteria in water reservoirs.

The growing negative anthropogenic impact on the environment causes scientific interest in the problems of water management. The increasing number of publications in this scientific field requires their intellectual systematization. The purpose of this study is to conduct a bibliometric review of scientific publications related to water management issues in the context of solving the problems of increasing the sustainability of the socio-economic development of a region for better understanding of current research trends. To achieve this goal, bibliometric analysis using the VOSviewer software product (Manual for VOSviewer version 1.6.17) was used. The international database Scopus was taken as the source of information. This study examined 10,208 articles on water management issues from 2012 to 2022. The basic criterion for including a publication in the selection was that the topic of the work belongs to the subject areas of economics, econometrics and finance and business, management and accounting. As a result of the analysis, it was determined that the problems of water resources management have not lost their popularity in the global research community and the research methodology is evolving towards the concept of “water–energy–food”. The centers of knowledge forming the vector of scientific research are the USA and the Netherlands; however, in recent years, the research of Chinese scientists has become increasingly important. It is concluded that the potential for the development of research in the field of water resources management in the context of solving the problems of the sustainable development of regions is associated with the search for opportunities for revealing the synergy of intersectoral interactions while taking into account their sectoral and regional specifics.

The article presents the results of a study of the causes of floods in the summer of 2019 in the Irkutsk region, which affected more than 100 settlements, and the damage exceeded 35 billion rubles. Tulun City and Nizhneudinsk City located on the Ija River and the Tulun River, suffered the most from floods. The authors have found that the formation of extreme floods was due to the action of natural causes, that is a rare combination of synoptic factors with high previous moisture catchments. Anthropogenic factors had little impact. Modeling allowed to find out the reasons of formation of an unusual flood in the basin of the Iya River and to restore chronology of flooding of Tulun. Spectral analysis of satellite images on the NDVI index allowed automatic identification of objects subjected to flooding. The high flood damage was caused not only by the height of the floods, but also by systemic problems specific to the Russian Federation. The article provides recommendations on reduction of the flood risks.

The data on phytoplankton formation and dynamics of its production characteristics during the early years of the Yumaguzin Reservoir, created in a mountainous part of the Belaya River, are presented. The trophic state of the reservoir has been estimated.

The role of diffuse pollution of water bodies in the formation of water quality in them is characterized. Some features of diffuse pollution, which are of importance for managing the process of their reduction, are identified. The main lines of the activity for managing the reduction of diffuse pollution are determined and characterized, including basin programming, regional planning, ecological direction of sectoral improvement, governmental stimulation. The problem of incorporation of measures for reducing diffuse pollution in the River Basin Management Plan and the application of Water Quality Objectives for regulating diffuse pollution is considered. Proposals are given for improvement the application of the principle of best available technologies for reducing diffuse pollution.

The article discusses specific features of the modern hydrodynamic models of bed processes that implement the principle of active interaction of a water flow and a bed morphometry. The peculiar features of these models’ construction and implementation were illustrated by study cases of the Sylva River near the villages of Posad and Ust-Kishert and of the Cheptsa River near the village of Balezino. We have made assessment of the bed morphometry possible changes due to the spring high water passage on the basis of the developed hydrodynamic models. We compared the calculated model values with the observed bed changes. The comparative analysis of the ADH and RiverFlow2D modern calculation modules application effectiveness have been carried out.

Пермский федеральный исследовательский центр; Пермский государственный национальный исследовательский университет

The long-term dynamics of the marsh frog population inhabiting a small thermal pond serving as a sedimentation basin for discharged waters of the Nizhnii Tagil Iron and Steel Plant was studied using group marking of metamorphs and recapturing. Three groups of individuals were singled out depending on meta-morphosis completion: the early ones (group I); the middle ones (group II); and the late ones overwintering as tadpoles and completing their metamorphosis in May of the following year (group III). Upon the completion of metamorphosis, the individuals from group I were significantly larger than those from group II. Nevertheless, the individuals of these two groups were significantly smaller than those from group III. After the first wintering, the immature individuals from group I were significantly larger than the individuals from group II and the metamorphs (after the first wintering) from group III. The growth rate in the latter was higher than in groups I and II. These distinctions were observed in both immature and adult individuals. Over the period from metamorphosis completion until the end of the first wintering, the survival rate was significantly higher in the individuals of group I, while it was almost the same in groups II and III. The maximum survival rate among adults was observed in the individuals from group III, with the minimum survival rate registered for group II. These distinctions recurred in each of the age classes up to the fourth wintering. Nevertheless, the maximum survival rate for the age classes that overwintered four and five times was observed in group II. This fact can be viewed as compensation for a rather low survival rate among immature individuals from this group. All the winterings of the Rana ridibunda tadpoles covered in the literature (except in other thermal water bodies) correspond to rare deviations from normal ontogenesis. Therefore, the numerous group of overwintering tadpoles found in every generation is a new adaptation, the essence of which lies in decreased competition among the groups of tadpoles under a year-round use of the resources of the thermal pond, which was characterized by a high productivity. The advantageous body sizes and growth rates in tadpoles and metamorphs of the immature and adult individuals from group III indicate that the strategy of this group remains successful even when metamorphosis is complete. The reason for this lies in the unusually large body sizes in metamorphs, which provide a higher postmetamorphic survival rate and greater female fecundity.

The problem of the climate change impact on the ice regime of lakes has become topical in view of the revealed (observed) shortening of the freeze-up duration and a decrease in the ice thickness for many years. The relationship between timing and duration of the ice events and climate characteristics had been found. The influence of climate change on the ice regime in the Transbaikalia was previously estimated by the example of the Ivano-Arakhley lakes. In this work we determined the trends of changes of the following parameters: air temperature, the duration of freeze-up and the maximal ice thickness as well as the reliability of these trends on lakes Arakhley, Shakshinsky, Bolshoy Leprindo, Gusinoye, Baunt, Sosnovoye. The least-squares method was used to determine the long-term trends; consistency of the changes in the studied characteristics was evaluated by means of the correlation analysis. The significance of the trends and correlation coefficients was evaluated using Student's t-statistics.

The main principles of the environmental standardization of hazardous impacts experienced by natural ecosystems and approaches to this standardization based on the analysis of in situ biological and physicochemical monitoring are described. The possibilities of applying standardization methods are discussed, including methods based on background and averaged values of the characteristics to be standardized, a model analysis of the effect of abiotic components on natural communities, and in situ technology of establishing local environmental standards. Some principles underlying the environmental standardization are presented. The classification of ecosystems by their environmental quality is described.

The article considers the formation of potable groundwater deposits in an area disturbed by mining. Characteristic cases are used to analyze and systematize the transformation patterns of groundwater chemistry. It is shown that, after the completion of mining activities, the possible use of groundwater is controlled by both natural and mining-operation factors, including the types of minerals, the rehabilitation method applied in the disturbed area, and the water-intake facility design.

The paper presents data on the findings of Brazilian elodea Egeria densa, an alien species, in two cooling ponds of the Verkhnii Tagil Power Plant (Middle Urals). The most probable reason for the appearance of E. densa in the cooling ponds is invasion from aquarium culture.

The article presents the results of a comprehensive study of the water regime, channel processes and the ecological state of the Argun River. Poor water quality of the Argun river is determined by high concentrations of COD, phenols, zinc, manganese, copper, and iron; the water quality of the tributaries is higher than that of the main river. The content of most metals in the Argun River bottom sediments’ is characterized as “High chronic pollution”, the worst quality is noted in the Srednyaya Borzya River. The Argun River water quality according to the zooplankton saprobity index is estimated as class II (slightly polluted), and according to the indicator organisms of zoobenthos - from class II to class V. The worst quality parameters in terms of chemical and biological indicators are characteristic of the upper part of the river. As a result of the channel deformations the Argun river is highly likely to change the state border line in the direction of Russian territory, which is caused by the massive construction of bank protection facilities on the Chinese coast. We have found 80 reaches with dangerous development of channel processes, urgent measures are required for 14 of them. Mathematical modeling shows that as a result of water management measures in the territory of the PRC, the Argun River runoff decreased by an average of 1.8 km3 per year compared with the background period (1959-1971), which is more than half of the Argun River average annual runoff in the border cross section. The processing of Earth remote sensing data showed a reduction in the area and duration of flooding of the floodplain Argun and the oppression of floodplain vegetation below the channel of flow transfer. The flow transfer led to a general decrease in runoff, but did not affect the passage of catastrophic floods. To solve the problem of floods, it was proposed to repair existing and build new protective structures.

Aim. The aim of the research is to determine the objectivity and reliability of the information received on the quality of surface water bodies, taking into account the natural features of water bodies in the Specific Combinatorial Water Pollution Index. Methods. Basic information about the quality of surface land waters (including small rivers) was obtained during regime observations, which were carried out by the Federal State Budgetary Institution "West-Siberian Service for Hydrometeorology and Environmental Monitoring" in 2017. Assessment of the degrees of contamination of surface waters was carried out on the basis of statistical processing of the results of chemical analyzes “Gydrokhimik PC” software package and indicators of a comprehensive assessment of the degree of contamination of surface waters calculated using the “UKISV-network” software package. Assessment of the degree of pollution of surface waters is based on the data of the West Siberian Research Institute for Aquatic Bioresources and Aquaculture for 2017. Results. It has been established that the quality assessment methodology by the Specific Combinatorial Water Pollution Index does not objectively evaluate the quality of surface water bodies taking into account the natural features of water bodies. Conclusion. It is necessary to improve or change the approaches and methods of assessing the quality of surface waters since this will increase the degree of reliability of statistical information. In turn, this will allow the authorities and relevant federal agencies to respond more quickly to issues of ensuring environmental safety, it will also allow using the budget funds allocated for environmental protection more rationally.

Abstract Territory of the Republic of Kalmykia located in the northwestern part of Caspian Region relates to arid areas because of the very poorly developed hydrographic network. Annual amount of precipitation varies from 210 to 340 mm; evaporation from the water surface is 1000–1100 mm. The issue of water resources provision is critical for Kalmukia. In the conditions of Kalmykia groundwater plays an important role as it is the main and often the only source of domestic/drinking water supply. However, the groundwater use is limited due to their low natural quality. One of the ways of increasing useful groundwater resources of water intakes and particular sites of deposits, improvement of water quality and, accordingly, meeting the population’s current demand for fresh drinking water can become artificial recharge of groundwater. A source of groundwater recharge on the territory of Kalmykia can be surface runoff during the winter/spring flood or, less often, during summer/fall rain floods. The Ergeninsk Upland in the Republic of Kalmykia has been chosen for the first stage (2020-2021) of researches in terms of combination of all factors of the possibility of artificial groundwater resources accumulation.

Small and medium sized business has an important place in the economy of all countries. In modern conditions of Industry 4.0 development, the introduction of big data analytics into the performance of small and medium-sized businesses can become the basis for sustainability growth of their functioning and their competitive advantages' development. However, the use of Big Data technology is not typical for small and medium enterprises. At the same time, the issues of big data analytics use by small and medium-sized businesses in the context of their resource and infrastructure constraints are poorly studied. The purpose of this article is to develop a conceptual model for the implementation of big data analytics in the activities of small and medium-sized businesses, taking into account their digitalization problems. The study was made on the basis of the Russian economy data. The analysis of the issues of big data analytics' use for small and medium-sized businesses was based on the methodology of system analysis with the identification of object, environment and project-process development subsystems. The novelty of research consists in the fact that the development model of the structure of big data use was carried out in accordance with the content of the main tasks that must be solved within data management life cycle. The results of the study showed that the main issues of the introduction of big data analytics in the activities of small and medium-sized businesses are associated with a lack of understanding of its benefits by entrepreneurs. Also significant problems are the lack of financial resources and the lack of qualified employees capable of strategic administration of these processes. Given these problems, the authors conclude that the model for use of big data analytics by small and medium-sized businesses should be based on the use of cloud software and analysis of projects with open source big data. The article suggests the structure of the model for big data use by small and medium-sized businesses. This paper contributes to the development of ideas about the directions of digitalization of small and mediumsized businesses in order to increase the sustainability of this economic sector in the context of Industry 4.0. Further research by the authors is connected with effectiveness evaluation of mechanisms and tools of government support made for digital business transformations.

Background and Objective: Intensive industrial development of the northern territories of Russia has led to increasing impacts on aquatic ecosystems. This study presented the aquatic ecological impacts of suspended solids emitted from an alluvial gold mining site in the Hobe-U river, a small subpolar mountain river in the northern Urals. The objectives of the research were the following: To examine whether the riverine macroinvertebrate community is negatively impacted by suspended solids contamination, to test whether the Index of Trophic Completeness (ITC) and its feeding guilds were appropriate for use in this part of the world. Materials and Methods: The article contained two years of summer macroinvertebrate abundance and biodiversity data from pristine and two impacted locations along the river. The samples were collected with benthic D-frame kick-net with a blade length of 30 cm in 3 replicates at a riffle site. Dominant species were defined by biomass values. For each taxon the functional feeding group was determined. Common descriptive statistics (such as mean and Min-Max diapason, percentages, frequency counts) were calculated in MS Excel 2007 and statistical package STATISTICA 6.1. Results: During the research 31, 14 and 23 taxa of benthic macroinvertebrates were found at pristine, impacted and downstream locations of the Hobe-U river. Water turbidity upstream of the mining polygons did not exceed 5 mg LG 1 . Impacted and the third downstream sites had mean turbidity values 30.15 and 14.4 mg LG 1 , respectively. Of total 12 trophic guilds of Index of Trophic Completeness (ITC) their amount varied within three sampling locations as following: 2007-8, 5, 7; 2008-7, 4, 7. Conclusion: At the site impacted, a decline in biodiversity, species domination, trophic structure of the benthic community were observed. The most unaffected trophic guilds included active predators, scrapers and detritivores, while other guilds had disappeared completely from the benthic community. The ITC bio-assessment approach was able to distinguish between an impacted and reference site and provides ecological insights into sensitive species and the impact on ecosystem.

The paper presents the results of a comparison of the project and refined according to the results of research for 2007–2008 morphometric indicators (area and volume) of the Kama reservoir. Based on a comparison of the design curves and and refined curves of the areas and volumes of the reservoir, as well as diagrams of changes in the total volume of taxons (plots) allocated in the hydrological and morphological zoning, we concluded that the updated data does not correspond to the theoretical ideas about the general orientation of the evolution of the reservoir morphologic parameters. Based on the sedimentation balance data of the Kama reservoir, we have shown that the concept of large-scale changes in the reservoir volume due to the sediment accumulation is untenable. To explain the significant difference between the design and updated data a hypothesis was advanced about incorrect determination of the area and volume of the Kama reservoir in the design studies, due to the low accuracy of cartometric and computational methods in the study of the extremely complex shape of the reservoir bed Similar studies on the Novosibirsk reservoir support these conclusions.

Dispersed discharge from farming territories negatively aff ects surface water bodies through increasing of biogenic substances content in their water. Study of the slope runoff formation regularities and assessment of the biogenic substances carry-over from catchment territories of various structures enable to make rating of pollution sources and to develop an effective set of measures aimed at improvement of water quality