Additional Pathogenic Pathways in RBCK1 Deficiency

RBCK1 deficiency is a rare congenital autoinflammatory disease that causes inflammatory disruption on the molecular level. This deficiency has three major clinical manifestations: increased sensitivity to bacterial infections, autoinflammation syndrome, and the accumulation of amylopectin in skeletal muscle. The amylopectinosis causes myopathy and cardiomyopathy. The pathogenesis of the disease is poorly investigated and may include unnoticed relationships. We performed gene expression analysis on patients with RBCK1 deficiency and three other autoinflammatory diseases. The identification of differentially expressed genes revealed a large number of downregulated genes that are involved in the activation of essential metabolic and immune pathways, including NF-kB and Pi3k-Akt-mTOR. Signaling pathways were analysed using the KEGG (Kyoto Encyclopedia of Genes and Genomes) and Gene Ontology resource. Predicted protein-protein interactions were retrieved from the STRING (Search Tool for the Retrieval of Interacting proteins database). Besides the primary involvement of RBCK1 in disease pathology, several downregulated pathways aggravate symptoms of myopathy, cardiomyopathy, and bacterial disease. The studied pathways may serve as new targets for the development of compensatory therapies for patients with RBCK1 deficiency. © 2022, Mathematical Biology and Bioinformatics. All rights reserved

A COMPARISON OF THREE METHODS FOR MARKERS SELECTION IN UNTARGETED LIPIDOMICS

In the present paper is analyzed different algorithms for the marker’s selection of mass-spectrometry data in lipidomics. The goal of the investigation is to highlight the shortcomings and advantages of the processes and determine the most suitable.The research funding from the Ministry of Science and Higher Education of the Russian Federation (Ural Federal University Program of Development within the Priority-2030 Program) is gratefully acknowledged

Description of Pathogenesis Mechanisms Using Methods of Natural Language Processing

The paper presents an analysis of differential gene expression using modern natural language processing methods. Various types of the BERT pretrained language model as well as Doc2vec were used in the work

MODELING OF IMMUNODEFICIENCY STATE INMODELS OF LABORATORY ANIMALS (MICE)

The text of the report presents a concept of modeling of an immunodeficiency state in mice. The repot includes description of the occuring alterations in the immune system, used techniques, and brief results obtained during comparison healthy and immunodeficient mice.The research funding from the Ministry of Science and Higher Education of the Russian Federation (Ural Federal University Program of Development within the Priority-2030 Program) is gratefully acknowledged

Opportunities in Processing of Transmembrane Potential Data with Convolutional Neural Networks

In this paper, we test convolutional neural networks for problems of noise reduction, super-resolution, and compressed sensing on data of the transmembrane potential.Работа поддержана грантом Российского научного фонда № 22-21-00930

Комбинированная пластика при посттравматическом остеомиелите большеберцовой кости (клиническое наблюдение)

The article presents a clinical case of successful complex surgical management of a 62-year-old patient with chronic post-traumatic tibial osteomyelitis. A two-stage surgical treatment was aimed to sanitize a chronic purulent focus in the tibia lower third and to perform a complex reconstructive surgery aimed to correct bone and soft tissue defects. The reconstructive stage of the discussed complex surgical treatment consisted in combined plasty: a cavity in the bone was filled with bone grafts obtained from the iliac crest; and a skin and soft tissue defect was corrected with an islet sural musculocutaneous flap on the distal feeding pedicle. As a result, the surgeons could effectively correct tibia and soft tissues defects with good functional and cosmetic results.В статье представлено клиническое наблюдение успешного комплексного хирургического лечения пациентки, 62 лет, с хроническим посттравматическим остеомиелитом большеберцовой кости. Продемонстрировано двухэтапное хирургическое лечение, включающее вмешательство, направленное на санацию хронического гнойного очага в нижней трети большеберцовой кости, и сложную реконструктивно-восстановительную операцию для ликвидации костной полости и дефекта мягких тканей. Реконструктивный этап комплексного хирургического лечения заключался в выполнении комбинированной пластики: костная пластика аутоспонгиозой, полученной из гребня подвздошной кости, и мягкотканная пластика островковым суральным кожно-мышечным лоскутом на дистальной питающей ножке, в результате чего удалось полностью ликвидировать дефект большеберцовой кости, мягких и покровных тканей с хорошими функциональными и косметическими результатами

Transboundary franchising agreement as an institute of international private law in Russia and Germany: concept and content

The article provides a comparative analysis of a transboundary franchising agreement essential terms in a contects of its implementation in Russia and Germany. The theoretical reflection of the phenomenon of franchising’ essence. The basic features of a notion of transboundary franchising agreement as economic-and-legal category which determine the complex modern trends shaping the concept of transboundary franchising agreement as an institution of international private law. The study made a number of fundamental conclusions and proposals including on recommendations to potential participants of franchising agreements

Clinical case of type 1 diabetes mellitus combined with Graves’ disease and epilepsy

The risk of type 1 diabetes mellitus (T1DM) combined with epilepsy is significantly higher in people with this disease than in people without it, which may indicate a genetic predisposition for this combination. The issue of the relationship between diabetes and epilepsy has not yet been fully understood. The article is concerned with a clinical case of type 1 diabetes mellitus combined with Graves' disease in a 37-year-old patient with epilepsy. The combination of two autoimmune diseases can be taken as part of type 2 or 3 autoimmune polyglandular syndrome (APS). APS affects multiple glands in the endocrine system. The chronic adrenal cortex insufficiency is a characteristic sign for the most studied type 1 or 2 APS. Type 3 APS is defined by the presence of an autoimmune thyroid disease and other autoimmune diseases, both endocrine (excluding adrenal and parathyroid gland insufficiency) and nonendocrine. The autoimmune nature of T1DM and Graves' disease is beyond dispute in the considered case; the possibility of considering epilepsy as part of the autoimmune process (like type 3 APS) is not to be irrelevant. The article presents the differential diagnosis of convulsive conditions and comparison of clinical manifestations of hypoglycemia and epileptic seizures, and focuses on the prescription of anticonvulsant therapy in patients with type 1 diabetes. Thyrotoxicosis, which developed against the background of diabetes, leads to high variability of glycemia, increased need for insulin, metabolic decompensation, which requires correction of insulin therapy. Patients with polymorbid conditions should be considered from the perspective of single pathogenesis, and they should be followed-up. If a patient has polyendocrinopathy, the variability of the clinical picture, and pharmacokinetic and pharmacodynamic interaction of the prescribed drugs needs to be taken into account due to mutual influence of pathological processes