Differentiation of the regions of the central federal district of the Russian Federation according to the level of competitive advantages

The article reveals the methodology of competitive positioning of the regions, based on the clustering of the initial key competitive indicators, including those reflecting the regional resource potentia

Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage

Advantages and diagnostic effectiveness of the two most widely used resequencing approaches, whole exome (WES) and whole genome (WGS) sequencing, are often debated. WES dominated large-scale resequencing projects because of lower cost and easier data storage and processing. Rapid development of 3(rd) generation sequencing methods and novel exome sequencing kits predicate the need for a robust statistical framework allowing informative and easy performance comparison of the emerging methods. In our study we developed a set of statistical tools to systematically assess coverage of coding regions provided by several modern WES platforms, as well as PCR-free WGS. We identified a substantial problem in most previously published comparisons which did not account for mappability limitations of short reads. Using regression analysis and simple machine learning, as well as several novel metrics of coverage evenness, we analyzed the contribution from the major determinants of CDS coverage. Contrary to a common view, most of the observed bias in modern WES stems from mappability limitations of short reads and exome probe design rather than sequence composition. We also identified the similar to 500kb region of human exome that could not be effectively characterized using short read technology and should receive special attention during variant analysis. Using our novel metrics of sequencing coverage, we identified main determinants of WES and WGS performance. Overall, our study points out avenues for improvement of enrichment-based methods and development of novel approaches that would maximize variant discovery at optimal cost

Clinical and radiological efficacy of corpectomy and anterior stabilization with titanium mesh cages in patients with myelopathic syndrome associated with cervical spine degenerative di

The aim of this study was to research the clinical and radiological efficacy of  corpectomy and anterior stabilization with titanium mesh cages in patients with myelopathic syndrome associated with cervical spine degenerative diseases.Material and methods. A retrospective observational cohort study was performed. The study included medical records of patients with cervical myelopathy associated with degenerative diseases of the cervical spine who underwent corpectomy and  anterior stabilization with titanium mesh cages. Clinical and instrumental parameters were assessed.Results. The study included 28  medical records of respondents who underwent corpectomy and anterior stabilization with titanium mesh implants. The average age of patients was 61.9 ± 11.3 years, males prevailed (60.7 %). By the 3rd month of  postoperative follow-up, the severity of myelopathy significantly decreased (p˂0.001). After 12  months, the severity of cervical myelopathic syndrome also significantly decreased (p = 0.009). The neurological status of 18 (64.2 %) respondents improved in the first 3  months after corpectomy and anterior stabilization with titanium mesh implants and 6 months after the surgery, the status improved in the remaining 8 (30.7 %) patients (p˂0.001). Preoperative values of the Cobb sagittal angle allowed us to conclude the following. In 13 (46.4 %) patients, the normolordotic axis of the cervical spine was noted, in 12  (42.8  %) – the  hypolordotic axis, and in 3 (10.8 %) respondents, the Cobb angle values corresponded to the kyphotic axis of the cervical spine.Conclusion. The technique of corpectomy and anterior fixation with mesh titanium implants in patients with myelopathic syndrome against the background of  degenerative diseases of the cervical spine makes it possible to improve the clinical status of the latter already 3 months after the operation was performed while maintaining normal biomechanical parameters of the cervical spine and complete decompression of the neural structures and supply their vessels

Surgical Treatment of Stenosis of Spinal Canal and Dural Sac at the Craniovertebral Junction

The paper presents the results of surgical treatment of 12 patients with stenosing processes of the vertebral canal at the craniovertebral transition due to chronic, unstable type 2 injuries of the C odontoid process (classification of fractures of odontoid process proposed in 1974 by Anderson and D’Alonzo). Patient examination included clinical-neurologic examination, review spondylograms of the cervical spine in 2 projections, MSCT, MRI. All patients were admitted to the clinic with external fixators (cervical support collar or Philadelphia collar). In the preoperative period, all patients were divided into 2 groups according to indications and contraindications for the application of the HALO-device. The first group consisted of 7 people, with cervical spine still fixed with the cervical support collar or Philadelphia collar, and the second group consisted of 5 patients with CII fracture fixed and corrected in the preoperative period by the HALO-device. All patients underwent surgical intervention – posterior approach decompression of the spinal canal and dural sack in the craniovertebral passage by CI laminectomy, partial resection of the posterior margin of the occipital aperture followed by the implementation of atlanto-axial occipitospondylodesis (a clamp with shape-memory effect for posterior occipitospondylodesis, OOO “MITS SPF”, Novokuznetsk, Russia). A comparative analysis of the results of surgical treatment of posttraumatic stenoses of the vertebral canal with and without the use of the HALO-traction device was performed. The results was better in the second group, which makes it possible to consider the second variant of surgical treatment more pathogenetically justified. Thus, HALO-traction restors anatomo-topographic relationships in the craniovertebral zone creating hard external fixation, helping to avoid intraoperative complications

Secretory phospholipase A2: a biomarker of inflammation in autoimmune, bacterial and viral diseases

Secretory phospholipases A2 (sPLA2) represent a large superfamily of enzymes with a molecular weight of 14-19 kDa, including 15 groups and more than 30 isoforms belonging to four types: secretory (sPLA2), cytosolic (cPLA2), calcium-independent (iPLA2) and lipoprotein-associated phospholipase A2 (LP-PLA2, PAF-AH). Eleven species of secretory sPLA2s (IB, IIA, IIC, IID, IIE, IIF, III, V, X, XIIA, and XIIB) have been found in mammals, performing versatile functions and participating in the pathogenesis of a wide range of diseases. On the one hand, sPLA2 may promote elimination of damaged, apoptotic cells by hydrolyzing membrane phospholipids, and exerts a strong bactericidal and antiviral properties, including pronounced effects against antibiotic-resistant strains of microorganisms. In this regard, the use of sPLA2 may represent a new strategy for the treatment of bacterial and viral infections. Moreover, due to the action of sPLA2 on its substrates, a number of biologically active molecules (arachidonic, lysophosphatidic acids, lysophospholipids, fatty acids, prostaglandins, leukotrienes, thromboxanes) are formed, which provide strong inflammatory, detergent, coagulating effects and increase vascular permeability. This pro-inflammatory role of sPLA2 may explain its increase levels and activity in cardiovascular, respiratory, autoimmune, metabolic, oncological, bacterial and viral disorders. The review article presents a classification of sPLA2 isoforms, their substrates, regulatory factors, biological significance, and mechanisms of their strong bactericidal, virucidal, and pro-inflammatory activity in the heart and lung disorders, autoimmune, metabolic, bacterial, and viral diseases. In particular, the mechanisms of the selective action of sPLA2 against Gram-positive and Gram-negative microorganisms are discussed. We consider diagnostic and prognostic significance, correlations between elevated levels and activity of sPLA2 and distinct clinical symptoms, severity and outcome in the patients with coronary heart disease (CAD), acute myocardial infarction (AMI), atherosclerosis, acute inflammatory lung injury (ALI), respiratory distress syndrome (ARDS), chronic obstructive pulmonary disease (COPD), rheumatoid arthritis, bronchial asthma, bacterial infections, septicemia and viral (COVID-19) infections. The opportunity of using sPLA2 as a biomarker of the severity and outcome of patients with chronic obstructive pulmonary disease, bacterial infections, sepsis and viral infections, including COVID-19, is also considered

The Effectiveness of Laser Vaporization in the Treatment of Intervertebral Hernias of the Lumbar Spine

The purpose of the study: assessment of the use of laser vaporization of the disc with hernial protrusion on the lumbar spine and its effectiveness in the treatment of pain.Material and methods. We analyzed the effectiveness laser vaporization in 230 patients with degenerative-dystrophic diseases of the lumbar spine (protrusions and hernias of the intervertebral discs) treated in the neurosurgical department of the Irkutsk Scientific Centre of Surgery and Traumatology for the period from 2011 to 2018. There were 122 men and 108 women. The average age of the patients was 41 years. The duration of the disease before surgical treatment is 11 ± 3 weeks. Clinical and neurological examination revealed lumbalgia in 102 patients (44.3 %), lumbar ischalgia in 98 (42.6 %) and radiculopathy in 30 patients (13.1 %). Median hernias of the intervertebral discs were revealed in 130 patients (56.4 %), lateral hernias - in 41 (17.8 %) and protrusions - 59 (23.8 %). The leading localization of the pathological process was the LIV-LV segment (138 patients, 60 %). Assessment of the effectiveness of surgical treatment was carried out using VAS and Macnab scales.Results. In 100 % of cases were laser vaporization was applied a decrease in the intensity of the pain syndrome was achieved in terms of up to 3 months. The analysis of the long-term results of this treatment in 124 patients from 3 months to 3 years by Macnab scale revealed excellent results in 25 (20.1 %) patients, good results - in 50 (40.3 %), satisfactory - in 42 (33.8 %), and unsatisfactory results - in 7 (5.6 %) cases.Conclusion. Thus, laser vaporization of hernias of the intervertebral disc is effective in the treatment of pain, which does not stop with conservative treatment for 4-6 weeks; with a hernia of up to 6 mm; with a median localization and with no signs of sequestration

Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size

Type 2 diabetes (T2D) and obesity are common chronic disorders with multifactorial etiology. In our study, we performed an exome sequencing analysis of 110 patients of Russian ethnicity together with a multi-perspective approach based on biologically meaningful filtering criteria to detect novel candidate variants and loci for T2D and obesity. We have identified several known single nucleotide polymorphisms (SNPs) as markers for obesity (rs11960429), T2D (rs9379084, rs1126930), and body mass index (BMI) (rs11553746, rs1956549 and rs7195386) (p < 0.05). We show that a method based on scoring of case-specific variants together with selection of protein-altering variants can allow for the interrogation of novel and known candidate markers of T2D and obesity in small samples. Using this method, we identified rs328 in LPL (p = 0.023), rs11863726 in HBQ1 (p = 8 × 10−5), rs112984085 in VAV3 (p = 4.8 × 10−4) for T2D and obesity, rs6271 in DBH (p = 0.043), rs62618693 in QSER1 (p = 0.021), rs61758785 in RAD51B (p = 1.7 × 10−4), rs34042554 in PCDHA1 (p = 1 × 10−4), and rs144183813 in PLEKHA5 (p = 1.7 × 10−4) for obesity; and rs9379084 in RREB1 (p = 0.042), rs2233984 in C6orf15 (p = 0.030), rs61737764 in ITGB6 (p = 0.035), rs17801742 in COL2A1 (p = 8.5 × 10−5), and rs685523 in ADAMTS13 (p = 1 × 10−6) for T2D as important susceptibility loci in Russian population. Our results demonstrate the effectiveness of whole exome sequencing (WES) technologies for searching for novel markers of multifactorial diseases in cohorts of limited size in poorly studied populations

The first scientific forum «Genetic resources of Russia» - on legal regulation in the field of bioresources and biological collections

The first scientific forum «Genetic Resources of Russia» took place in Saint Petersburg on 21-24 June 2022. The Forum brought together more than 500 specialists from more than 100 research institutions and universities of the Russian Federation. A round table «Regulations and standards of work with bio-resource collections» was organized within the framework of the Forum in connection with the relevance to create the legislation base for the work with biological collections and regulation of the activities of bioresource centres in the Russian Federation. This publication presents the outcomes of the Forum and its resolution relating to the legal regulation of biological collections

On the results of the First Scientific Forum «Genetic Resources of Russia»: prospects for development, research and practical potential of bio-collections

Nine separate scientific conferences and school-conferences dedicated to the conservation, development, study and practical use of biological collections of various types were held under the auspices of the First Scientific Forum “Genetic Resources of Russia”, which took place in Saint Petersburg on 21-24 June 2022. A total of more than 300 oral presentations were made at these events. The Forum plenary sessions, which included 25 lectures, attracted more than 1,500 participants. The development prospects, research and scientific-practical potential of biological collections were thoroughly discussed at the events of the Forum. The results of these discussions are presented in this publication in the form of a Forum resolution. The strategic role of biological collections for the conservation of genetic diversity, for the scientific and technological development of society and for the provision of educational processes is emphasized. This strategic framework, which should be developed and maintained, also makes it possible to implement practical tasks related to meeting the challenges in the field of food and environmental security, health care and technological independence in the rapidly developing spheres of the economy