Laboratories In Russia Research Articles

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples.

Population allele frequency is crucially important for accurate interpretation of known and novel variants in medical genetics. Recently, several large allele frequency databases, such as the Genome Aggregation Database (gnomAD), have been created to serve as a global reference for such studies. However, frequencies of many rare alleles vary dramatically between populations, and population-specific allele frequency is often more informative than the global one. Many countries and regions, including Russia, remain poorly studied from the genetic perspective. Here, we report the first successful attempt to integrate genetic information between major medical genetic laboratories in Russia. We construct RUSeq, an open, large-scale reference set of genetic variants by analyzing 7452 exome samples collected in two major Russian cities-Moscow and St. Petersburg. An ∼10-fold increase in sample size compared to previous studies allowed us to characterize extensive genetic diversity within the admixed Russian population with contributions from several major ancestral groups. We highlight 51 known pathogenic variants that are overrepresented in Russia compared to other European countries. We also identify several dozen high-impact variants that are present in healthy donors despite being annotated as pathogenic in ClinVar and falling within genes associated with autosomal dominant disorders. The constructed database of genetic variant frequencies in Russia has been made available to the medical genetics community through a variant browser available at http://ruseq.ru.

International comparisons in the field of measurement of specific adsorption of gases and specific surface area of solids: the optimal amount to ensure calibration and measurement capabilities

Indicators of the accuracy of measurements of the most important characteristics of the structure of porous and dispersed materials - specific adsorption of gases, specific surface area, specific pore volume and pore size – are considered. The performance of sorbents, catalysts and membranes in the chemical and petroleum industries, including the purification of substances and materials, depends on the values of these characteristics. It has been established that for mutual recognition of national standards and certificates of calibrations and measurements of porosity characteristics of solid substances performed by national metrological institutes, it is required to organize and successfully participate in three international key comparisons under the auspices of the Consultative Committee for Amount of Substance: Metrology in Chemistry and Biology of the International Bureau of Weights and Measures. The results of the participation of national metrology institutes and designated organizations of Germany, China, Japan, Brazil, Turkey and Russia in three international key comparisons in the field of measurements of specific adsorption of gases (nitrogen, argon, krypton) and specific surface area of solids (zeolite, silicon oxides and aluminum) are presented. Carrying out the optimal number of comparisons makes it possible to register in the Key Comparison Database of the International Bureau of Weights and Measures the measuring and calibration capabilities of the national metrological institutes of the participating countries for various matrices in a wide range of measurements of specific adsorption of gases 0.001–25 mol/kg and specific surface area of solids 0.1–1500 m2/g. Based on the results of these three international key comparisons, 18 of broad calibration and measurement capabilities of the Russian participant, the D. I. Mendeleev Institute for Metrology, were entered into the Key Comparison Database; two of these items are currently undergoing examination, including reference materials produced by this institute. A comparative analysis of the results of measurements of the specific surface area of solids using nitrogen and krypton as adsorbates was performed. It has been established that the uncertainty of the measurement results of the specific surface area is significantly less in the case of using krypton as an adsorbate with a specific surface area of less than 1 m2/g, which is due to the higher values of the relative pressure of krypton compared to nitrogen. The use of calibration and testing laboratories in Russia of certified reference materials of sorption properties presented in the Key Comparison Database of the International Bureau of Weights and Measures will ensure metrological traceability in the field of measurements of porosity characteristics.

My Research Connections with Russian Scientists over the Past Half Century

Over the past half century, I have maintained research connections with Russian scientists during investigations in seismology and mineral physics. These studies have focused on detection and discrimination of underground nuclear explosions and measurements of the physical properties of minerals at high pressures and temperatures. During this period, I have also visited many research laboratories in Russia, including Moscow, Chernogolovka, Novosibirsk and St. Petersburg. The objective of this paper is to relate this history.

Genome-Editing Technologies in Biomedical Research: The Regulatory Conditions for the Development

Significant progress has been made in the development of genetic technologies in recent decades. Currently, high-performance sequencing and, most importantly, genome editing technologies are widely used and available for laboratories in Russia. Existing technologies are not without drawbacks that significantly hinder further development, in addition, all the necessary reagents and materials, as well as equipment, are produced exclusively abroad. The review highlights the international experience of using genome editing technologies for the treatment and prevention of genetic diseases, vector-borne and viral infections, it offers recommendations for the development of this area in the Russian Federation. Attention is drawn to the legal and ethical regulation, mainly at the level of basic principles. The conclusion is formulated on the need for accelerated adaptation of basic ethical and legal principles for genome editing activities in scientific biomedical activities.

PCR-based diagnosis of whooping cough in the Russian Federation.

The aim was to determine how often the PCR method is used in different laboratories in Russia. In 2018, we conducted a questionnaire survey in diagnostic laboratories of medical organizations and the Centers of Hygiene and Epidemiology that performed PCR studies to identify microorganisms of the genus Bordetella in all 85 Russian regions. We found that in 2013 the PCR was used in 33 (38.8%) regions, but in 2017 the number of regions increased to 64 (75.3%). During 2013-2017 the study has not been applied in 21 regions. The number of PCR tests performed in the laboratories of medical organizations was significantly different. There has been an increase in the number of tests for the diagnosis of pertussis among people with clinical signs of infection and among contact persons in foci of infection. Compared to the Centers of Hygiene and Epidemiology, in medical organizations the rate of introduction of the PCR was higher. Between 2013 and 2017 the proportion of samples containing DNA B.pertussis decreased, but the proportion of samples containing DNA of other representatives of the genus Bordetella increased. Moreover, in the case of isolation DNA Bordetella spp. clinicians diagnose «Whooping cough, other unspecified organism», since there is no information on the species of the pathogen. Thus, in order to improve the diagnosis of pertussis, it is necessary to optimize PCR tests by including target genes that allow to identify of currently relevant DNAs of different representatives of the genus Bordetella.

Современные тенденции в стандартизации лабораторной деятельности

This article contains a brief overview of the most prominent standards for laboratories in Russia. Analysis of requirements included in these standards allowed distinguishing universal approaches to quality assurance as well as areas not covered by any of the studied systems. Based on implementation data and decisions of governmental bodies it was concluded that standard tend to included noncontradictory requirements and to get more similar over time.

About Ancient Ceramic Traditions of the Population of the Northern Caspian Region

Introduction. The territory of the Northern Caspian region plays an important role in the study of the Neolithic of Eastern Europe. The main criterion of this period is clay pottery. One of the difficult issues is the time of the ceramic technology appearance. Methods and materials. The study of the pottery technology of the Neolithic population of the Northern Caspian region is carried out in the framework of the historical and cultural approach to the study of ceramics, according to the method of A. Bobrinsky. The technique is based on binocular microscopy, tracology and experiment in the form of physical modeling. The basis for identifying technological traces on ceramics is the comparative analysis of the vessels under study with the base of standards. It is made by means of physical modeling in field and laboratory conditions. The age of the Neolithic monuments was determined using traditional methods in radiocarbon laboratories in Russia and Ukraine, as well as using AMS at universities in Sweden and Finland. Analysis. Over the past 10 years, more than 68 radiocarbon dates on different materials such as charcoal, bones, organics from ceramics, charred crusts, humus have been obtained. They give the possibility to determine the time of appearance and spread of the earliest pottery in the Northern Caspian region. This is the middle 7th millennium BC. The chronological framework for the development of the Neolithic in the Northern Caspian region is ca. 6600–5500 BC. The paper establishes the main and specific features of ceramic traditions. Results.The technical and technological analysis allows to reveal the genesis, the features of dynamics and further development of pottery in this region. The complex of results obtained allows to attribute the Neolithic sites of the Caspian region to the earliest pottery areal in Eastern Europe.

Smallpox in the Post-Eradication Era.

Widespread vaccination programmes led to the global eradication of smallpox, which was certified by the World Health Organisation (WHO), and, since 1978, there has been no case of smallpox anywhere in the world. However, the viable variola virus (VARV), the causative agent of smallpox, is still kept in two maximum security laboratories in Russia and the USA. Despite the eradication of the disease smallpox, clandestine stocks of VARV may exist. In a rapidly changing world, the impact of an intentional VARV release in the human population would nowadays result in a public health emergency of global concern: vaccination programmes were abolished, the percentage of immunosuppressed individuals in the human population is higher, and an increased intercontinental air travel allows for the rapid viral spread of diseases around the world. The WHO has authorised the temporary retention of VARV to enable essential research for public health benefit to take place. This work aims to develop diagnostic tests, antiviral drugs, and safer vaccines. Advances in synthetic biology have made it possible to produce infectious poxvirus particles from chemicals in vitro so that it is now possible to reconstruct VARV. The status of smallpox in the post-eradication era is reviewed.

Development and Validation of HPLC/UV-Spectrophotometric Procedures for Metronidazole Quantitative Determination

Metronidazole is the most popular representative of antiprotozoal medicines from the group of 5-nitroimidazoles. Metronidazole blocks the enzymes of alcohol dehydrogenase and acetaldehyde dehydrogenase, therefore when its joint taking with alcohol it is observed the strong intoxication syndrome and fatal poisonings too. Therefore metronidazole can be a potential object of chemical toxicological investigations. The purpose of our paper is to develop HPLC/UV-procedure of metronidazole quantification with application of the system of HPLC-analyzer MiLiChrome® A-0230 implemented in practice of forensic medical laboratories in Russia and Ukraine and carry out step-by-step validation of the developed procedure. Chromatographic conditions: Eluent A (0.2 M LiClO4 – 0.005 M HClO4) and Eluent B (acetonitrile) wereused as the mobile phase components; HPLC microcolumn Ø2×75 mm and ProntoSIL 120-5-C18 AQ, 5 μm were used as an analytical column; temperature was 40°С; flow rate was 100 μl/min; gradient elution mode was from 5% to 100% Eluent B for 40 min, then 100% Eluent B for 3 min; detection was performed at 277 nm. Retention time for metronidazole is 5.95 min. Since metronidazole is easy soluble and stable enough in the solutions of diluted alkalis 0.001 M sodium hydroxide solution has been proposed for preparation of the solutions in developing HPLC/UV-procedure of metronidazole quantification. Validation of the procedure has been carried out in the variants of the method of calibration curve and method of standard by such parameters as in process stability, linearity/calibration model, accuracy and precision within 3 different analytical runs using different batches of reagents and different glassware; experiments have been performed by three different analysts. New procedure of metronidazole quantitative determination by the method of HPLC/UV has been developed. Its validation has been carried out and acceptability for application has been shown.

ORLOVKA CULTURE IN THE LIGHT OF NEW DATA ON THE CHRONOLOGY OF THE NEOLITHIC THE STEPPE VOLGA REGION

The Varfolomeevka site is a basic location for the characterization of the Orlovka Neolithic culture in the steppe region of Volga River. Currently, there are 35 radiocarbon dates for the three lower layers the Varfolomeevka site. Cultural layers site produced on bone, coal, pottery and the charred crust in the six laboratories of Russia, Ukraine, Sweden and Poland. New radiocarbon dates specified chronology of the Varfolomeevka site. Layer 3 was formed in chronological interval 6200-5900 BC; layer 2 B - in the interval 6200-5700 BC; layer 2 A - in the interval 5600-5200 BC and latest Neolithic layer (1) - in the interval 5400-4800 BC. Received date suggest the following: 1. Precaspian Neolithic culture is formed on the basis of the Orlovka Neolithic culture; 2. These two cultures coexisted in the late Neolithic and the early Aeneolithic age.

Methodology of the determination of polycyclic aromatic hydrocarbons in foods

The known methods of determining polycyclic aromatic hydrocarbons (PAHs) in foods used in the current practice of analytical laboratories in Russia are revised. Instrumental methods of high performance liquid chromatography (HPLC), gas chromatography-mass spectrometry (GCMS), and liquid chromatography-tandem mass spectrometry (LC-MS/MS) for the quantification of PAHs in solutions and food items are considered. Methodological recommendations for the analytical sample pretreatment of 15 top priority PAHs in foods are formulated.

P1-S1.34 First report of the Swedish new variant of Chlamydia trachomatis (nvCT) in Russia

BackgroundThe new variant of Chlamydia trachomatis (nvCT), first reported in Sweden in late 2006, has so far rarely been reported outside the Nordic countries. However, knowledge of the presence of...

Harmonization of dosimetric information obtained by different EPR methods: Experience of the Techa river study

Abstract Between 1949 and 1956 the Techa River (Southern Urals, Russia) was contaminated as a result of releases of radioactive waste by the Mayak Production Association. EPR dosimetry with tooth enamel has been used to estimate the external exposure of Techa riverside residents over the last 17 years. The database “Tooth” of the Urals Research Center for Radiation Medicine (URCRM) has accumulated about 1000 EPR measurements of tooth enamel from the rural population of the Urals region. The teeth were investigated by laboratories of Russia, USA, Germany and Italy. Most of the enamel samples were measured several times in different laboratories. Each laboratory used different equipment and its own methods for sample preparation and EPR spectra analysis. Even measurements performed at the same laboratory over 10–15 years may not be assumed as uniform: methods change with time, and equipment is subject to aging. These two factors influenced EPR performance. The purpose of this study is, therefore, the harmonization of EPR data accumulated during long-term dosimetric investigations in the Southern Urals for further pooled analysis. The results will be used for external dose evaluation in the Techa River region.

Measurement uncertainty in quantitative chemical analysis: Problems of the transition period

Various aspects of the implementation of the concept of measurement uncertainty in analytical laboratories of Russia are considered. Information on international and identical domestic documents on the estimation and application of measurement uncertainty is presented. The analogy between the transition to the uncertainty concept and the transition to the metric system is drawn.

Implementation of ISO/IEC 17025 Standard for the accreditation of analytical laboratories in Russia

The history since 1992 and the current state of affairs of the Russian Accreditation system for analytical laboratories are described. Some national characteristics of the implementation of the ISO/IEC 17025 Standard in Russia are considered. The elucidation of some ISO/IEC 17025 Standard prepositions is presented to facilitate implementation of the Standard by accreditation bodies and analytical laboratories claiming accreditation.

External quality assessment schemes for clinical analysis in Russia

The history and the present condition of external quality assessment (EQA) schemes for clinical laboratories in Russia are described briefly. The creation of EQA programmes started in Russia in the 1980s. Now almost 20 years later these schemes have been transformed. The National External Quality Assessment Scheme ensures quality control in the clinical chemistry sector (more than 2000 laboratories) and is the most powerful scheme in Russia. The (Sistema Vneshnego Kontrola Katchestva, *) (BKK) system, covering about 120 Russian laboratories, and a lot of local regional programmes (mainly in Siberia), is also very active. The purposes and design of the operating programs, reference materials used, algorithms of estimation, modes of result representation and development prospects are considered. The basic obstacle to the development of EQA schemes in Russia is financial restriction.

Quality assurance in analytical measurement

The peculiarities of analytical measurement require to check characteristics of the error (its components) of the obtained analysis results to assure the quality of the measurements. This article deals with the various quality assurance procedures and algorithms which are used to check the quality indices, i.e. the accuracy, reproducibility, certainty and repeatability of analytical measurements: These procedures include: laboratory rapid control; Intra-laboratory statistical control (statistical selection control by alternative attribute, statistical selection control by quantity method of periodic check of the analysis procedure for conformity to the specified requirements) and external control (inter-laboratory control checks, inter-laboratory comparison tests, and intra-laboratory control algorithms carried out by the appropriate supervisory body.) in the separately taken laboratory. The respective algorithms, control plans and control requirements, specified according to the different control aims and assurance tasks, enable the quality and certianty of analytical information obtained in laboratories in Russia to be assured.

The Russian system for accreditation of analytical laboratories (centers)

The history and the present state of the national system for accreditation of analytical laboratories in Russia are described.

New policy in the accreditation of testing and calibration laboratories in Russia

The structure and activities of a new accreditation body called the Russian Union of Measurement Accreditation Systems (RUMAS) are briefly described.

The First Chemical Laboratories in Russia

The First Chemical Laboratories in Russia