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This study presents the findings of a newborn screening (NBS) pilot project for 5q-spinal muscular atrophy (5q-SMA) in multiple regions across Russia for during the year 2022. The aim was to assess the feasibility and reproducibility of NBS for SMA5q in diverse populations and estimate the real prevalence of 5q-SMA in Russia as well as the distribution of patients with different number of SMN2 copies. The pilot project of NBS here was based on data, involving the analysis of 202,908 newborns. SMA screening assay was performed using a commercially available real-time polymerase chain reaction kit, the Eonis SCID-SMA. In one year, 202,908 newborns were screened, identifying 26 infants with homozygous deletion of SMN1 exon 7, yielding an estimated 5q-SMA incidence of 1:7804 newborns. It was found that 38.46% had two SMN2 copies, 42.31% had three copies, 15.38% had four copies, and 3.85% had five copies of SMN2. Immediate treatment was proposed for patients with two or three SMN2 copies. Infants with four or more SMN2 copies warranted further investigation on management and treatment. Short-term monitoring after gene therapy showed motor function improvements. Delays in treatment initiation were observed, including the testing for adeno-associated virus 9 antibodies and nonmedical factors. The study emphasizes the need for a standardized algorithm for early diagnosis and management through NBS to benefit affected families. Overall, the NBS program for 5q-SMA in Russia demonstrated the potential to improve outcomes and transform SMA from a devastating disease to a chronic condition with evolving medical requirements. [ABSTRACT FROM AUTHOR]

Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period. One hundred thirty-four newborns (0.66‰) were NBS positive after the first test and subsequent retest, 41% of whom were born preterm. After lymphocyte subsets were assessed via flow cytometry, samples of 18 infants (0.09‰) were sent for whole exome sequencing. Confirmed genetic defects were consistent with autosomal recessive agammaglobulinemia in 1/18, severe combined immunodeficiency – in 7/18, 22q11.2DS syndrome – in 4/18, combined immunodeficiency – in 1/18 and trisomy 21 syndrome – in 1/18. Two patients in whom no genetic defect was found met criteria of (severe) combined immunodeficiency with syndromic features. Three patients appeared to have transient lymphopenia. Our findings demonstrate the value of implementing combined TREC/KREC NBS screening and inform the development of policies and guidelines for its integration into routine newborn screening programs. [ABSTRACT FROM AUTHOR]

This study aimed to examine the psychometric properties of the Russian version of the Behavioral Rating Inventory of Executive Function®, Second Edition (BRIEF2) Teacher Forms and investigate its dimensional structure. The sample consisted of 178 typically developing children aged 5 to 7 years. Internal reliability analysis indicated high reliability (from 0.87 to 0.95) for the three composite indices and the Global Executive Composite across all age groups. Confirmatory factor analysis revealed that the dimensional structure of the Russian version of BRIEF2 was dierent among children aged 5 and 6 years compared to children aged 7 years, which is probably because, in Russia, the transition from kindergarten to school takes place upon reaching the age of 7. The results confirm that the Russian version of the BRIEF2 Teacher Form can be used as a valid tool to assess EF in 5- and 6-year-old children, provided that the three BRIEF2 indices are used for clinical interpretation. For 7-year-old children, the BRIEF2 was found to be an insuffciently valid tool to assess executive function [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Blue honeysuckle (Lonicera caerulea L.) bears dietary fruits that are rich in bioactive compounds. However, information on the metabolome profiles of honeysuckle varieties grown in Russia is limited. In this study, we employed tandem mass spectrometry to study the metabolome profiles of four L. caerulea varieties (Volhova, Tomichka, Goluboe vereteno, and Amfora) grown in two geographical locations in Russia, i.e., the Russian Far East and St. Petersburg. We observed that the metabolome profiles of the four varieties grown in two locations differ significantly, particularly in the polyphenol's other compound classes. We were able to identify 122 bioactive compounds in extracts from honeysuckle berries, 75 compounds from the polyphenol group and 47 compounds from other chemical groups. Thirty chemical constituents from the polyphenol group (flavones jaceosidin, cirsiliol, sophoraisoflavone A, chrysoeriol-O-hexoside, flavonols dimethylquercetin-3-O-dehexoside, rhamnocitrin, rhamnetin II, stilbenes pinosylvin, resveratrol, dihydroresveratrol, etc.) and twenty-seven from other chemical groups were identified. The largest number of unique polyphenols is characteristic of the variety Tomichka, the selection of the regional state unitary enterprise "Bakcharskoye", from the free pollination of L. caerulea, originating in the Primorsky Territory of Russia (L. caerulea subspecies Turczaninow). This genotype has the highest number of similar unique polyphenols, regardless of where it was grown. Blue honeysuckle genotypes originating from Primorsky Krai in Russia can be used in various breeding programs in order to improve and enrich the biochemical composition of fruits. It should also be noted that, regardless of the place of cultivation, the total amount of unique polyphenols remains quite large. Attention should be paid to the Volhova honeysuckle variety, obtained through gamma irradiation of the Pavlovskaya variety (Kamchatka ecotype). This sample is characterized by a stable composition of biologically active substances, regardless of the growing area. These data could support future research on the production of a variety of pharmaceutical products containing ultrapure extracts of L. caerulea. [ABSTRACT FROM AUTHOR]

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 PAX6 pathogenic variants and 11p13 chromosome region rearrangements to international databases based on a cohort of 379 AN patients (295 families, 295 probands) in Russia. We detail 100 newly characterized families (129 patients) recruited from clinical practice and specialized screening studies. Our methodology involves multiplex ligase-dependent probe amplification (MLPA) analysis of the 11p13 chromosome, PAX6 gene Sanger sequencing, and karyotype analysis. We report novel findings on PAX6 gene variations, including 67 intragenic PAX6 variants and 33 chromosome deletions in the 100 newly characterized families. Our expanded sample of 295 AN families with 379 patients reveals a consistent global PAX6 variant spectrum, including CNVs (copy number variants) of the 11p13 chromosome (31%), complex rearrangements (1.4%), nonsense (25%), frameshift (18%), and splicing variants (15%). No genetic cause of AN is defined in 10 patients. The distribution of patients across the Russian Federation varies, likely due to sample completeness. This study offers the first AN epidemiological data for the RF, providing a comprehensive PAX6 variants spectrum. Based on earlier assessment of AN prevalence in the RF (1:98,943) we have revealed unexamined patients ranging from 55% to 87%, that emphases the need for increased awareness and comprehensive diagnostics in AN patient care in Russia. [ABSTRACT FROM AUTHOR]

The measures taken against tuberculosis (TB) in recent years in the Russian Federation have been highly effective. Unfortunately, the COVID-19 pandemic may seriously undermine the progress that has been made in the fight against TB. The aim of this study was to assess changes in the epidemiological rates of tuberculosis in the Russian Federation before and after the COVID-19 pandemic. Materials and methods. The analysis was conducted by considering the main epidemiological indicators of tuberculosis, according to the federal statistics for the period from 2017 to 2021. The parameters were estimated according to the data received from 11 areas in the North-Western region. Statistical analysis was carried out using the free software computing environment R (v.3.5.1) and the commercial software package Statistical Package for the Social Sciences (SPSS Statistics for Windows, version 24.0, IBM Corp., 2016). Research results. We found a positive correlation between the incidence among the overall population and the incidence among children aged 0–17, inclusively (r = 0.55 in 2017, r = 0.60 in 2020, and r = 0.53 in 2021). Along with the received regularities, a different trend is shown in the data analysis of general incidence and health X-ray examination for tuberculosis among the general population. The correlation has decreased threefold from 2017 (r = 0.72) to 2020 (r = 0.32); this negative trend might be the result of factors such as the quality of X-ray screening examinations among the general population, and the reduced assessment objectivity of the tuberculosis incidence rate. Conclusions. In assessing the correlation between general incidence and incidence in children under 17 years of age, as well as between incidence and mortality in the Russian Federation, a positive correlation was found with an increasing trend. Such a discrepancy might be due to decreases in the occupational health examination coverage among the general population. Therefore, in the years ahead, we can expect epidemiological indicators to increase incidence and mortality, including child mortality, associated with the insufficient detection of tuberculosis among the population during the COVID-19 pandemic. [ABSTRACT FROM AUTHOR]

Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it is impossible to establish a clinical diagnosis without complex genetic diagnostics. We examined 198 patients with non-specific IDD from 171 families using whole-exome sequencing and chromosome microarray analysis. Hereditary forms of IDD account for at least 35.7% of non-specific IDD, of which 26.9% are monogenic forms. Variants in the genes associated with the BAF (SWI/SNF) complex were the most frequently identified. We were unable to identify phenotypic features that would allow differential diagnosis of monogenic and microstructural chromosomal rearrangements in non-specific IDD at the stage of clinical examination, but due to its higher efficiency, exome sequencing should be the diagnostic method of the highest priority study after the standard examination of patients with NIDD in Russia. [ABSTRACT FROM AUTHOR]

Genome-wide sequencing metadata allows researchers to infer bias in the relative frequencies of mutational events and to predict putative mutagenic models. In addition, much less data could be useful in the evaluation of the mutational frequency spectrum and the prevalent local mutagenic process. Here we analyzed the PAX6 gene locus for mutational spectra obtained in our own and previous studies and compared them with data on other genes as well as the whole human genome. MLPA and Sanger sequencing were used for mutation searching in a cohort of 199 index patients from Russia with aniridia and aniridia-related phenotypes. The relative frequencies of different categories of PAX6 mutations were consistent with those previously reported by other researchers. The ratio between substitutions, small indels, and chromosome deletions in the 11p13 locus was within the interval previously published for 20 disease associated genomic loci, but corresponded to a higher end due to very high frequencies of small indels and chromosome deletions. The ratio between substitutions, small indels, and chromosome deletions for disease associated genes, including the PAX6 gene as well as the share of PAX6 missense mutations, differed considerably from those typical for the whole genome. [ABSTRACT FROM AUTHOR]

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The rise of salinity of inland waters in many regions of the world highlights the necessity of investigations of ecosystems with a naturally high level of salinity to be able to predict possible changes in freshwater under the influence of modern environmental hazards. We studied species composition, density, biomass, and estimated production of macrozoobenthos communities in the middle reach and mouth of the saline Chernavka River (Lake Elton basin, Russia) from October 2018 to September 2019. The salinity of the water varied from 24 to 34 g l−1 during the investigation period. Species richness was poor: only a total of 21 taxa were found during the study period in the Chernavka River. The average density of benthic taxa in the middle reach was 8294 ind. m−2, and in the river mouth, the average density of benthic taxa was 12,893 ind. m−2. Chironomid larvae and Ceratopogonid larvae had high density and biomass in both sites throughout the growing season. Beetle larvae had high density in summer and autumn in the mouth of the river. The production of macrozoobenthos in the middle reach was 57.7 g dry wt m−2 year−1. In the mouth reach, the production was 707.2 g dry wt m−2 year−1. In the middle reach, the greatest contribution to production was made by Palpomyia schmidti, Cricotopus salinophilus, and Ephydra sp. In the mouth reach, Chironomus salinarius, Berosus spp., and C. salinophilus contributed to benthic production the most. [ABSTRACT FROM AUTHOR]

The results of analysis of the diversity of monogenic hereditary diseases (MHDs) in the Russian population of ten regions of the Russian Federation with different ethnic extraction—five with the indigenous residence and five in ethnic populations of the Volga region—are presented. A comparative analysis of the diversity of MHDs in the Russian population of ten regions with the diversity of MHDs in ten ethnic groups was carried out. The total number of the surveyed population was 2.837 million people (including 1.624 million Russians and 1.213 million representatives of ten different ethnic groups). The diversity of MHDs was 480 diseases diagnosed in 8355 patients. The spectrum and prevalence of frequent diseases were determined. A comparative analysis of genogeographic relationships between twenty ethnic groups/populations for the prevalence of 201 autosomal recessive diseases was carried out. It was shown that, despite the intense miscegenation of Russians with the indigenous population of the Volga region, the gene pool of Russians for MHD genes is preserved under the positive ethnic mating assortativity. [ABSTRACT FROM AUTHOR]

Amid the spread of COVID-19, a study of mental health in university students from different regions of Russia (n = 3057) was undertaken during the period from April 9 to April 20, 2020. The results were compared to studies conducted earlier within a large-scale research project examining student mental health. Mental health indicators were analyzed during three different periods: long before the onset of the pandemic (period 1); in the early days of the spread of COVID-19 in Russia, though prior to the implementation of containment measures (period 2); during tough measures to contain the first wave of the pandemic (period 3). The comparison of indicators showed no differences in the levels of psychological well-being (F = 0.918; p =.4), significantly lower levels of depression, anxiety and stress during the period 1 compared to the periods 2 and 3 (p <.001), and the highest levels of anxiety and stress during the period 2. We also established a higher increase in the levels of depression (F = 6.883; p =.001), anxiety (F = 11.868; p <.001) and stress (F = 10.384; p <.001) in young men compared to the changes in the same indicators in young women during the pandemic. However, both before and during the pandemic, these indicators showed better mental health in young men than in young women. Thus, when studying the impact of the pandemic on students' mental health, it is crucial to take into account the possible dynamics of their mental state within relatively short periods of time and to pay particular attention to gender differences. [ABSTRACT FROM AUTHOR]

The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of thousands of genes, and the resulting problems in society. This work provides an epidemiological analysis of the groups of the most common RHDs (autosomal dominant, autosomal recessive, and X-linked) and their point prevalence (PP) and describes the structure of RHD diversity by medical areas in 14 spatially remote populations of the European part of Russia. The total size of the examined population is about 4 million. A total of 554 clinical forms of RHDs in 10,265 patients were diagnosed. The CP for all RHDs per sample examined was 277.21/100,000 (1:361 people). It is worth noting that now is the time for characterizing the accumulated data on the point prevalence of RHDs, which will help to systematize our knowledge and allow us to develop a strategy of care for patients with RHDs. However, it is necessary to address the issues of changing current medical classifications and coding systems for nosological forms of RHDs, which have not kept pace with genetic advances. [ABSTRACT FROM AUTHOR]

Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the CFTR gene. The distribution and frequency of CFTR variants vary in different countries and ethnic groups. The spectrum of pathogenic variants of the CFTR gene was previously studied in more than 1,500 CF patients from different regions of the European and North Caucasian region of Russia and the spectrum of the most frequent pathogenic variants of the CFTR gene and ethnic features of their distribution were determined. To assess the population frequency of CFTR gene mutations some of the common variants were analyzed in the samples of healthy unrelated individuals from the populations of the European part of the Russian Federation: 1,324 Russians from four European regions (Pskov, Tver, Rostov, and Kirov regions), representatives of five indigenous ethnic groups of the Volga-Ural region [Mari (n = 505), Udmurts (n = 613), Chuvash (n = 780), Tatars (n = 704), Bashkirs (n = 517)], and six ethnic groups of the North Caucasus [Karachay (n = 324), Nogais (n = 118), Circassians (n = 102), Abazins (n = 128), Ossetians (n = 310), and Chechens (n = 100)]. The frequency of common CFTR mutations was established in studied ethnic groups. The frequency of F508del mutation in Russians was found to be 0.0056 on average, varying between four regions, from 0.0027 in the Pskov region to 0.0069 in the Rostov region. Three variants W1282X, 1677delTA, and F508del were identified in the samples from the North Caucasian populations: in Karachay, the frequency of W1282X mutation was 0.0092, 1677delTA mutation – 0.0032; W1282X mutation in the Nogais sample – 0.0127, the frequency of F508del mutations was 0.0098 and 1677delTA – 0.0098 in Circassians; in Abazins F508del (0.0039), W1282X (0.0039) and 1677delTA (0.0117) mutations were found. In the indigenous peoples of the Volga-Ural region, the maximum frequency of the F508del mutation was detected in the Tatar population (0.099), while this mutation was never detected in the Mari and Bashkir populations. The E92K variant was found in Chuvash and Tatar populations. Thus, interethnic differences in the spectra of CFTR gene variants were shown both in CF patients and in healthy population of the European and North Caucasian part of Russia. [ABSTRACT FROM AUTHOR]

This paper analyses the link between the efficiency of regional higher education systems and the rates of regional economic development between 2012 and 2015 in Russia. The efficiency scores are calculated at the institutional level using Two-stage Semi-parametric data envelopment analysis. Then, the scores are aggregated at the regional level. We formulate an economic growth model that considers the efficiency of regional higher education systems as one of the explanatory variables. As an econometric method, we employ a robust GMM estimator. The findings highlight a positive, and statistically significant effect of higher education institutions efficiency on the regional economic growth. We also found negative spillover effects. [ABSTRACT FROM AUTHOR]

The results of the study of genetic load and diversity of monogenic forms of hereditary pathology (MHP) among the child population from 11 districts of Kirov region (KR) obtained during genetic and epidemiological study of the region are presented. The total size of surveyed population is 286 616 individuals (including 37 348 children—13.03%), mainly Russians (88.1%). MHP included 91 diseases (287 patients from 255 families): 50 with autosomal dominant (AD) inheritance (153 patients from 129 families), 33 with autosomal recessive (AR) (107 patients from 104 families), and 8 nosologies with X-linked inheritance (27 patients from 22 families). All diseases were found in previously surveyed populations of the Russian Federation. Nine forms of MHP were detected with a prevalence higher than 1 : 5000: hereditary motor-sensory neuropathy (21.42/100 000), AD ichthyosis vulgaris (83.00/100 000), AD congenital ptosis (24.10/100 000), AD congenital cataract (29.45/100 000), AD syndactyly, type 1 (24.10/100 000), AR undifferentiated mental retardation (26.76/100 000), AR microcephaly with mental retardation (50.87/100 000), AR congenital cataract (26.78/100 000), and AR nonsyndromic sensorineural hearing loss (58.91/100 000). The average prevalence of MHP among the child population of KR was 1 : 130 children, with variation from 1 : 236 children in Vyatskopolyansky district to 1 : 51 children in Sunsky district. On the basis of the correlation analysis between load estimations and Fst values carried out, the reasons for revealed differentiation between districts are assumed. [ABSTRACT FROM AUTHOR]

We give a review of both our own original scientific results of the development of superconducting receivers for sub-terahertz astronomy and the main leading concepts of the global instrumentation. The analysis of current astronomical problems, the results of microwave astroclimate research, and the development of equipment for sub-terahertz radio astronomy studies justify the need and feasibility of a major infrastructure project in Russia to create a sub-terahertz telescope, as well as to enhance the implementation of the ongoing Millimetron and Suffa projects. The following results are discussed: i) superconducting coherent receivers and broadband subterahertz detectors for space, balloon, and ground-based radio telescopes have been developed and tested; ii) ultrasensitive receiving systems based on tunnel structures such as superconductor—insulator—superconductor (SIS) and superconductor—insulator—normal metal—insulator—superconductor (SINIS) have been created, fabricated, and examined; iii) a receiving array based on SINIS detectors and microwave readout system for such structures has been implemented; iv) methods for manufacturing high-quality tunnel structures Nb/AlOx/Nb and Nb/AlN/NbN based on niobium films with a current density of up to 30 kA/cm2 have been developed. Receivers operated at 200 to 950 GHz and having a noise temperature only a factor of 2 to 5 higher than the quantum limit have been created and tested. [ABSTRACT FROM AUTHOR]

Purpose: Accounting for ionic strength and ion association, the degree of calculated supersaturation with CaCO3 of gleyic solonetz and molic solonetz soil solution is high. The purpose of the research was to reveal the effect of the water-dissolved organic matter (DOM) on the calcium carbonate equilibrium (CCE) in soil solution, to create a thermodynamic model of carbonate association and complexation with DOM and heavy metals (HMs), and to correct the principal of soil management. Materials and methods: Object of research—Kastanozem complex of the dry steppe, Rostov Oblast, Russia. The water extraction of soluble salts was made at the water-to soil-ratio 5:1 and analyzed using standard methods. DOM content was determined by Strosser (J Agrobiol 27:49–60, 2010). The soil solution macro-ion equilibrium composition was calculated using ION-2 program (Endovitsky et al. 2009). DOM role in soil solution supersaturation with СаСО3 was assessed, comparing C content in real solution and in identical artificial solution prepared without organic matter. Taking into account the ion association, the molar fractions of free and bound HM ion were calculated using microelement association coefficient, kas(ME). The soil liquid-phase saturation with CaCO3 was characterized by the ratio of the real solubility product (S) to the thermodynamic solubility product (S0): К = S/S0. Results and discussion: The soil solution supersaturation with CaCO3 was characterized by the product of analytical concentrations (S), equilibrium concentrations [accounting ion activity (SI), ion association (SII), ion association and complexation (SIII)], and the thermodynamic solubility product (S0). To evaluate the role of DOM in soil solution supersaturation with CaCO3, the initial pure Ca (HCO3)2 solution series was prepared. The humic and fulvic acids from the illuvial horizon of gleyic solonetz with concentrations of 20 mg C L−1 and 120 mg C L−1 decreased the CaCO3 precipitation compared with initial soil solution. The release of CaCO3 from soil water extracts containing water-soluble organic matter was 1.2–1.9 times less compared with identical artificial solution not containing organic matter. The HM binding by carbonates is proportional to the DOM content. Conclusions: In molic solonetz and gleyic solonetz, the neutralization of the soda should be assessed by the soil solution supersaturation with CaCO3. To calculate the degree of HM passivation in soil solution containing DOM, the coefficient of soil solution oversaturation with CaCO3 is proposed. For reducing soil organic matter and DOM mobility and loss from soil, as well as for Pb passivation, intra-soil mechanical processing, intra-soil waste management, and intra-soil watering are proposed. [ABSTRACT FROM AUTHOR]

Single nucleotide variants are represented as lines. The height of the line corresponds to the allele frequency. Gross chromosomal copy number variations are shown as arrows. Color corresponds to the mutation type. Complex alleles represented with a clip. Previously reported variants are located above the schematic gene representation. Their names are presented in Table 1 in main text. Novel variants are depicted beneath the schematic gene representation. [ABSTRACT FROM AUTHOR]

The results of studying biological aerosols (pollen spectra) in precipitation registered in the south of Western Siberia in the winter of 2014/15 are presented. Pollen grains of birch (Betula sp.), willow (Salix sp.), pine (Pinus sp.), and poplar (Populus sp.) were identified in the three of 28 analyzed precipitation samples. The comprehensive analysis of synoptic conditions during precipitation, back trajectories of air masses calculated with the HYSPLIT model as well as the analysis of the Northern Hemisphere snow cover dynamics and the area of distribution of the identified taxa were carried out. The results allowed determining the Euro-Scandinavian region as the main source of pollen grains inflow with precipitation to the south of Western Siberia in March 2015. [ABSTRACT FROM AUTHOR]

Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associated with mutations in the TFAP2A gene. Here, we performed clinical analysis and mutation diagnostics in seven BOFS patients in Russia. The phenotypic presentation of BOFS observed in three patients showed high heterogeneity, including variation in its main clinical manifestations (linear loci of cervical cutaneous aplasia, ocular anomalies and orofacial cleft). In certain other cases, isolated ocular anomalies, or an orofacial cleft with accessory BOFS symptoms, were observed. In five BOFS patients, conductive hearing loss was diagnosed. Direct sequencing of the coding region of the TFAP2A gene revealed missense mutations in four BOFS patients. One patient was observed to have a previously described mutation (p.Arg251Gly), while three patients from two families were found to have novel mutations: p.Arg213Ser and p.Val210Asp. These novel mutations were not present in healthy members of the same family and therefore should be classified as de novo. [ABSTRACT FROM AUTHOR]

Two new species of the genus Ypsolopha Latreille, 1796 are described from Far East of Russia: Ypsolopha melanofuscella sp. n. and Y. straminella sp. n. Two new synomymies are proposed: Y. ulingensis Yang, 1977, a new junior synonym of Y. costibasella (Caradja, 1939); and Cerostoma falculella Erschoff, 1877, a new junior synonym of Y. asperella Linnaeus, 1761. The species Y. costibasella Caradja, 1939, Y. nigrofasciata Yang, 1977 and Y. nigrimaculata Byun et Park, 2001 are recorded from Far East of Russia for the first time. The male genitalia of Y. nigrofasciata are described and illustrated for the first time, diagnostic genital characters are given. [ABSTRACT FROM AUTHOR]

The paper presents a brief climatic characteristic and statistical analysis on dynamics of thermal regime in Altai Mountains. The close correlation between temperature series of the Russian and northern part of Mongolian Altai was determined. It was found that the rate of temperature increase for the period under consideration (1940-2008) ranged from 0.19 to 0.53 °С/10 years, and the most significant increase was registered during the cold seasons. During the maximum global warming (1980-1999), a 2-4.5 times increase of annual average temperature was observed as compared to the period of 1940-1979. The temperature series variations obtained with the Welch's method and wavelet analysis correspond to the periods of North Atlantic Oscillation and solar activity variation. [ABSTRACT FROM AUTHOR]

Presented are the results of studying the ozone layer over Nizhni Novgorod and Central Asia using the ground-based millimeter wavelength range equipment. Carried out is the comparison of results of ground-based measurements with the EOS Aura MLS data. The difference in the ozone layer structure at stratospheric heights is revealed during the joint measurements at the mentioned points in November 2010. The analysis demonstrates that this difference is caused by the influence of the polar stratospheric vortex. Proceeding from the experience of similar researches, the conclusion is made on the necessity of organizing the permanent domestic network of the ground-based microwave monitoring of the ozone layer. [ABSTRACT FROM AUTHOR]

A genetic epidemiological study has been performed in five districts of the Republic of Tatarstan, Russia: Arsky, Atninsky, Kukmorsky, Buinsky and Drozhzhanovsky raions. The total size of the population surveyed is 188397 people. Tatars accounted for 77.13% of the population analyzed (145466 people) and were represented by two main ethnic groups: Kazan Tatars and Mishars. The medical genetic study encompassed the total population of the districts, irrespective of ethnicity, and was carried out according to the standard protocol developed in the Laboratory of Genetic Epidemiology of the Research Center for Medical Genetics of the Russian Academy of Medical Sciences. After segregation analysis, the prevalence rates of the main types of monogenic hereditary disorders (MHDs), i.e., autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases, have been calculated for the total population of the five districts and for Tatars alone. The prevalence rates of AD, AR, and X-linked diseases considerably vary in different subpopulations. The largest difference in the MHD prevalence rate has been found between the rural and urban populations. The overall prevalence rate of MHDs was one patient per 293 urban residents and populations and one patient per 134 rural residents, with a wide variation between subpopulations, from 1: 83 people in the rural population of Atninsky raion to 1: 351 people in the town of Kukmor. Comparison of the MHD prevalence rate in Tatars with those in populations surveyed earlier has shown that the characteristics of the load of MHDs in the Tatar population are similar to those in some districts of the republics of Bashkortostan, Udmurtia, Mari El, and Chuvachia. In Russian populations of European Russia, the MHD prevalence rates are substantially lower. Correlation analysis has shown high ( r = 0.5-0.9) significant correlations between the local inbreeding ( a), the im index, the random inbreeding ( F), and the AD and AR prevalence rates in the Tatar population. This analysis has demonstrated that genetic drift is the main population dynamic factor determining the MHD load in the Tatar population. [ABSTRACT FROM AUTHOR]

The first estimation of the heterozygous carrier rates for the SMN1 gene deletions and SMN2 gene duplications in populations of Russia has been performed. The numbers of SMN gene copies have been deter-mined in samples from Chuvash and Udmurt populations, as well the population of the Moscow region, by means of multiplex ligation-dependent probe amplification. The heterozygous carrier rates for the CMA gene were 2.7% (1: 37 people), 2.8% (1: 36 people), and 2.8% (1: 36 people) in Chuvashes, Udmurts, and residents of the Moscow region, respectively. The SMN2 duplication frequencies have been determined in the studied groups. It is 1.5, 4, and 2.5% in Chuvashes, Udmurts, and residents of the Moscow region, respectively. The high SMN2 duplication frequency in Udmurts may explain why the SMN1 heterozygous carriage frequency in this population was overestimated in earlier PCR-RFLP analyses. [ABSTRACT FROM AUTHOR]

On the basis of 1212 questionnaires filled up by women of postreproductive age living in five districts of the Republic of Tatarstan (Arsky, Atninsky, Kukmorsky, Buinsky, and Drozhzhanovsky), the basic reproductive characteristics and Crow's index and its components have been calculated. The rural population is characterized by expanded reproduction with a mean sibship size of 2.68; in district administrative centers, there is only simple reproduction. Crow's index and its components for the rural Tatar population are I = 0.026, I = 0.172, I = 0.202. Graphic analysis of the mutual positions of some populations studied has been carried out. [ABSTRACT FROM AUTHOR]

The results of integrated study of the genetic structure and prevalence of monogenic hereditary diseases (MHDs) in the child population of three republics of Russia are summarized. Eight raions (districts) of the Republic of Bashkortostan and six districts of each Republic of Chuvashia and Republic of Udmurtia has been surveyed. The total population surveyed was 782184 people, with children accounting for 24.67% of them (192 992 children). The loads of autosomal dominant (AD), autosomal recessive (AR), and X-linked MHDs have been calculated separately for urban and rural populations; differences between individual populations in the MHD load have been found. The differentiation of subpopulations with respect to MHD prevalence is explained by differences in the degree of subdivision. The MHD spectrum in the child population of the three republics comprises 222 disease entities, including 121 AD, 83 AR, and 18 X-linked diseases. Group of highly prevalent MHDs in regional child populations have been determined. The mean fitness of MHD patients in Bashkortostan has been calculated; it is 0.87, 0.04 and 0.16 for AD, AR, and X-linked diseases, respectively. Analysis has demonstrated that the prevalence rates of MHDs in the child populations of the republics of Chuvashia, Udmurtia, and Bashkortostan are 1, 1.2, and 1.4%, respectively. [ABSTRACT FROM AUTHOR]

The use of different methods of multivariate ordination for the analysis of the distribution pattern of benthic habitats along the gradient of a river ecosystem is considered. Problems of determination of homogenous segments of a stream are discussed using macrozoobenthos communities of small rivers of the lower Volga Basin as examples. A method for estimating the ordination quality criterion based on comparison with the null model and the use of bootstrap procedures is described. The dependence of statistical inferences on the level of detail of the original data, hydrobiological survey parameters, and similarity metric equations is analyzed. [ABSTRACT FROM AUTHOR]

The random inbreeding ( F) and local inbreeding ( a) values have been calculated for populations of the district and rural municipality ranks of 16 and 13 raions (administrative districts) of Tatarstan, Russia, respectively. The correlations between all inbreeding values are positive and vary from 0.38 to 0.80. The endogamy index has been calculated for populations of the district rank; it varies from 0.45 in Pestrechinskii raion to 0.74 in Aktanyshskii raion. Cartographic extrapolation of the endogamy indices has been performed. [ABSTRACT FROM AUTHOR]

The present paper deals with the results of the first study (April and August, 2006-2007) of the taxonomic composition of macrozoobenthos in the highly mineralized Khara River. The study revealed 35 species and taxa of the rank above species. Data were obtained on the spatial distribution of the species composition dynamics and on the quantitative development of the macrozoobenthic community. The dependence of the structure of bottom communities on the parameters of the river's trophic status, biotopic diversity, and changes in hydrochemical parameters was determined. The environmental factors (total mineralization, ionic composition, pH, oxygen content, water temperature, overgrowth by macrophytes) influencing structural changes in macrozoobenthic community were determined. It is shown that diversity, number, and biomass of halotolerant macrozoobenthic communities increase with a rise in water mineralization from 6.9 to 14 mg/L. A new halophilic chironomid species of the family Chironominae, Tanytarsus kharaensis Zorina et Zinchenko, has been found. [ABSTRACT FROM AUTHOR]

A total sample of 31 837 marriage records made in 13 raions (districts) of Tatarstan in 1990-2000 have been used to determine the endogamy index and parameters of Malecot's isolation by distance model. The endogamy index varied from 0.45 in Pestrechinsky raion to 0.74 in Aktynashsky raion. The parameters of Malecot's isolation by distance model varied in Tatars as follows: random inbreeding, from 0.00014 to 0.00076; root mean square migration, from 46 to 110 km. [ABSTRACT FROM AUTHOR]

Ethnically assortative marriage rates have been calculated for Tatars (1.16) and Russians (8.37) on the basis of 14 729 marriage records made in 1990-2000 in seven raions of Tatarstan (Arsky, Atninsky, Drozhzhanovsky, Alkeevsky, Musljumovsky, Aktanyshsky, and Baltasinsky). The outbreeding rate of Tatars (5.35%) has been found to be lower than in a number of other populations studied in this respect. [ABSTRACT FROM AUTHOR]

Thirteen strains of industrial bacterial cultures of the genus Lactobacillus (from a collection of Gabrichevsky Research Institute of Epidemiology and Microbiology) were studied. These strains were used for decades in Russian Federation for food and drug production, as ferments for lactic acid products, for production of probiotics, biologically active and veterinary preparations. Complex analysis of data on cultures obtained using microbiological and molecular-genetic methods was conducted for the first time. Biochemical characteristics of these cultures were studied and the sequence of the proximal region of 16S ribosomal RNA gene was determined. The employement of the test system API-50CHL was shown to broaden the opportunities of a more accurate biochemical identification of bacteria belonging to the genus Lactobacillus, in comparison with the set ANAEROTEST-23. According to the results obtained in a comparative analysis of nucleotide sequences of 16S rRNA gene, all strains examined show 97-99% homology of the proximal region of this gene with that of the type representatives of studied species. These data allowed taxonomic reclassification of the species position of cultures with consideration of the more advanced level of systematics. Nucleotide sequences of gene fragments of examined lactobacilli strains were recorded in NCBI database (accession numbers of deposits GU560031, GU560032, GU560033, GU560034, GU560035, GU560036, GU560037, GU560038, GU560039, GU560040, GU560041, GU560042, GU560043). [ABSTRACT FROM AUTHOR]

Technology of industrial production of an active pharmaceutical substance (APS) of the recombinant human granulocyte colony-stimulating factor (rhG-CSF) involved the use of a highly productive E. coli strain capable of biosynthesis of rhG-CSF in the form of inclusion bodies (IB). A method of strain cultivation has been described, and methods of IB isolation, industrial-scale purification, filgrastim APS production, and quality control have been developed. Clinical trials of the preparation, carried out in the leading Russian clinics, were successful. Efficiency and safety of the preparation have been confirmed. A ready pharmaceutical form Neupomax® been produced in Russia since 2008 according to the technology developed. [ABSTRACT FROM AUTHOR]

We describe a case of intensive infestation of wild population of Halys pit-viper (Gloydius halys) by common snake mite (Ophionyssus natricis) in west Siberia. In the examined population all adult individuals (n = 10) were infected by O. natricis. Infection intensity varied from 3-4 to more than 20 mites per adult pit-viper. This is the second observation of O. natricis in west Siberia. [ABSTRACT FROM AUTHOR]

The diversity of monogenic hereditary diseases (HDs) (autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases) has been studied in five districts of Bashkortostan Republic: Burzyanskii, Abzelilovskii, Baimak, Salavatskii, and Arkhangel’skoe raions. The spectrum of HDs comprised 144 diseases, including 83, 48, and 13 AD, AR, and X-linked diseases. Most of them were found earlier during studies in ten other regions of Russia (Kirov, Kostroma, Tver’, Bryansk, and Rostov oblasts, and Krasnodar krai, and the republics of Adygea, Marii El, Udmurtia, and Chuvashia). Foci of local accumulation of some AD, AR, and X-linked diseases have been found in individual districts. Data on the gene frequencies for the HDs have been used for cluster analysis, which has shown the gene geographic position of Bashkirs among nine ethnic populations of Russia: Russians (Kostroma, Kirov, and Rostov oblasts and Krasnodar krai), Chuvashes (Chuvashia), Adygeans (Adygea), Maris (Marii El), Udmurts (Udmurtia), and Bashkirs (Bashkortostan). [ABSTRACT FROM AUTHOR]

The rare malignant disorder autosomal recessive osteopetrosis (OPTB) is one of the most prevalent autosomal recessive diseases in the Chuvash Republic of Russia. The purpose of this study was to determine the underlying molecular cause of osteopetrosis in Chuvashiya and to reveal the factors causing the unusual high frequency of the disease in this region. Having assumed a founder effect, we performed linkage disequilibrium (LD) mapping of the OPTB locus at the TCIRG1 region and found a unique splice site mutation c.807+5G>A in all Chuvashian OPTB patients studied. We then analyzed the mutational change in mRNA and detected an intron insertion within the mutant transcript, resulting in a frameshift and premature stop-codon formation (p.Leu271AspfsX231). A decreased expression of the mutant transcript was also detected, which may have been the result of nonsense-mediated decay. Real-time qPCR and MLPA® melting curve analysis-based systems were designed and used for c.807+5G>A mutation screening. In addition to analyzing the gene frequency in Chuvashiya, we also estimated three other populations in the Volga-Ural region (Mari, Udmurt and Bashkir). We found a 1.68% prevalence in Chuvashiya (calculated disease frequency, 1/3500 newborns) and a 0.84% in the Mari population (1/14 000 newborns). The haplotype analysis revealed that all OPTB cases in Chuvashians and Marians originated from a single mutational event and the age of the mutation in Chuvashians was estimated to be approximately 890 years.European Journal of Human Genetics (2009) 17, 664–672; doi:10.1038/ejhg.2008.234; published online 28 January 2009 [ABSTRACT FROM AUTHOR]

The marriage migration structure of the populations of six districts of Bashkortostan Republic has been studied. The rates of assortative marriages in Bashkirs, Tatars, and Russians are 1.02–2.71, 1.30–5.99, and 2.14–7.50, respectively; the endogamy indices are 0.58–0.97, 0.90, and 0.68, respectively. Malecot’s isolation-by-distance parameters in Bashkirs, Tatars, and Russians, respectively, are the following: σ is 6.7–83.0, 40.3–106.1, and 69.9; a is 0.00012–0.00074, 0.00170–0.0029, and 0.00096; and b is 0.0087–0.0467, 0.0038–0.0208, and 0.0129. Changes in these parameters with time have been traced. [ABSTRACT FROM AUTHOR]

Tuberculosis is still an important medical and social problem. In recent years, great strides have been made in the fight against M. tuberculosis, especially in the Russian Federation. However, the emergence of a new coronavirus infection (COVID-19) has led to the long-term isolation of the population on the one hand and to the relevance of using personal protective equipment on the other. Our knowledge regarding SARS-CoV-2-induced inflammation and tissue destruction is rapidly expanding, while our understanding of the pathology of human pulmonary tuberculosis gained through more the 100 years of research is still limited. This paper reviews the main molecular and cellular differences and similarities caused by M. tuberculosis and SARS-CoV-2 infections, as well as their critical immunological and pathomorphological features. Immune suppression caused by the SARS-CoV-2 virus may result in certain difficulties in the diagnosis and treatment of tuberculosis. Furthermore, long-term lymphopenia, hyperinflammation, lung tissue injury and imbalance in CD4+ T cell subsets associated with COVID-19 could propagate M. tuberculosis infection and disease progression. [ABSTRACT FROM AUTHOR]

A genetic epidemiological study has been carried out in eight raions (districts) of Rostov oblast (region) of Russia: Tsimlyansk, Volgodonskoi, Tselina, Egorlykskaya, Millerovo, Tarasovskaya, Rodionovo-Nesvetaiskaya, and Matveevo-Kurgan raions. The population structure (the parameters of the isolation by distance model, ethnic assortative marriage, random inbreeding ( FST), endogamy index, and ie) and the genetic demographic characteristics of the regional population (vital statistics, Crow’s index, and its components) have been analyzed. The total sample size was 320 925 subjects (including 114 106 and 206 816 urban and rural residents, respectively). The load of the main types of Mendelian diseases (autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases) has been calculated for the total sample from eight districts and separately for the urban and rural populations. Substantial differences between individual districts in the AD and AR genetic loads have been found, especially upon separation into urban and rural samples. The results of correlation analysis suggest that migration and genetic drift are the main factors of genetic differentiation of populations with respect to the prevalence of hereditary diseases. [ABSTRACT FROM AUTHOR]

The article presents the conclusion made by the authors regarding the involuntary memory. They conclude that the major directions in foreign psychology has shown that it does not have a theory of memory that puts the problem of voluntary and involuntary retention to its proper place. They state that Soviet psychology has underlined the relationship and connection between memory processes and practice in life and human activity.

The article reports on the influence of Professor Frederic Bartlett's publication entitled "The Future of Ergonomics," in the development of ergonomics in Russia. Soviet psychologists had been acquainted with the used Bartlett's works mainly in the domain of experimental psychology. They also cite one example dealing with seemingly central point of the article of British psychologists and ergonomics, namely industrial automation and related research. Concrete ergonomics results for solving key problems of automation were naturally springing up in scientific discussions.

The geographic distribution of hereditary diseases (HDs) in different populations and ethnic groups of Russia has been studied. The main patterns of the formation of the prevalence and spectrum of HDs in five ethnic groups (Russians from six regions, Mari, Chuvashes, Udmurts, and Adygeans) from a total of ten regions of Russia have been analyzed. Analysis of correlations suggests that genetic drift is the main factor of the genetic differentiation of populations with respect to the prevalence of HDs. Accumulation of HDs in individual populations and ethnic groups has been analyzed. Hereditary diseases characterized by locally high prevalence rates in individual populations or ethnic groups have been detected. The main patterns of the accumulation of individual diseases and differences between populations and ethnic groups in this respect have been studied with the use of principal component analysis, which describes these patterns more graphically. It has been demonstrated that the genes of HDs are a promising tool for characterizing ethnogenetic processes in populations. [ABSTRACT FROM AUTHOR]

Integrated study of the genetic structure of the Udmurt population with respect to different genetic systems has been performed. Data on the genes of genetic diseases, abiotic parameters analyzed by population statistic methods, and DNA polymorphism are summarized. The populations of six raions (districts) of Udmurt Republic (the Mozhga, Malaya Purga, Sharkan, Debesy, Igra, and Glazov raions) have been studied. The total population studied was 267 655 people (an urban population of 150 119 people and a rural population of 117 536 people), including 155 346 Udmurts. The population structure has been studied in six districts on the basis of the vital statistics, Crow’s indices, Malecot’s isolation by distance parameters, ethnically assortative marriage parameters, endogamy indices, inbreeding-endogamy ( ie) indices, and frequencies of the genotype and allele frequencies of four DNA markers (17 alleles). The prevalences of hereditary diseases have been calculated for different population groups: urban and rural populations, Udmurts and other ethnic groups. These groups, especially the urban and rural populations, substantially differed from one another in the prevalences of autosomal dominant (AD) and autosomal recessive (AR) diseases. The correlation between the prevalence of AD and AR diseases and the ie index is positive and significant. The spectrum of hereditary diseases detected in six districts of Udmurtia comprises 149 diseases (80, 57, and 12 AD, AR, and X-linked diseases, respectively). Accumulation of individual diseases in districts of Udmurtia and accumulation of diseases in Udmurtia as compared to regions studied earlier has been found. Cluster analysis of the frequencies of genes of AD and AR diseases and DNA markers has determined the gene geographic position of Udmurts. [ABSTRACT FROM AUTHOR]

Multidimensional mathematical analysis of a set of abiotic and biotic indices was carried out on the basis of many-year (1958–1984, 1992) observations of the Kuibyshev Reservoir. The character of the space and time dynamics of the samples is studied; the localization of sections of statistically homogeneous data was implemented. Graphs of the long-term spatial taxonomic structure of water masses were analyzed for different periods. The graphs had been formed with the use of the principal component method, neuron network modeling, and self-organizing Kohonen maps. Comprehensive zoning of the reservoir water area was carried out with the help of GIS technologies. [ABSTRACT FROM AUTHOR]

Data on the surname frequency distribution in seven raions (districts) of the Rostov oblast (region) have been used to calculate random inbreeding varying from 0.000064 to 0.000186 in the Volgodonsk and Millerovo districts, respectively. Schematic surname landscapes have been constructed for six districts. The observed spectrum of frequent surnames is compared with that of the complete register of surnames in Russia. [ABSTRACT FROM AUTHOR]

Marriage records of six raions (districts) of Udmurtia and the city of Glazov (a total of 10518 records) have been used to calculate marriage-migration parameters. The endogamy indices of the rural and urban Udmurt populations are 0.59 (from 0.48 to 0.76 in individual districts) and 0.29, respectively, and those of the rural and urban Russian populations are 0.33 and 0.47, respectively. The mean ethnic assortativeness values are 1.05 and 0.89 for the rural and urban Udmurt populations, respectively, and 2.13 and 1.44 for the rural and urban Russian populations, respectively. The parameters of isolation by distance for the rural Udmurt population are the following: σ = 52.4, a = 0.00035, and b = 0.012; those for the urban Udmurt population are 54.1, 0.00020, and 0.010, respectively. [ABSTRACT FROM AUTHOR]

Marriage records have been used to study the marriage migration structure of five raions of the Rostov oblast. The mean ethnic marriage assortativeness in the Russian and Ukrainian rural populations are 1.16 and 1.6, respectively. The endogamy index of the urban population varies from 0.19 to 0.34; and that of the rural population, from 0.21 to 0.54. Malecot’s isolation by distance parameters have been calculated. Genetic landscapes have been constructed. [ABSTRACT FROM AUTHOR]