Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.

Background: 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.

Methods: The pilot project of NBS here was based on data, involving the analysis of 202,908 newborns.

Therapeutic application of adipose-derived stromal vascular fraction in myocardial infarction.

The insufficiency of natural regeneration processes in higher organisms, including humans, underlies myocardial infarction (MI), which is one of the main causes of disability and mortality in the population of developed countries. The solution to this problem lies in the field of revealing the mechanisms of regeneration and creating on this basis new technologies for stimulating endogenous regenerative processes or replacing lost parts of tissues and organs with transplanted cells. Of great interest is the use of the so-called stromal vascular fraction (SVF), derived from autologous adipose tissue.

Involvement of transposable elements in Alzheimer's disease pathogenesis.

Alzheimer's disease affects an average of 5 % of the population with a significant increase in prevalence with age, suggesting that the same mechanisms that underlie aging may influence this pathology. Investigation of these mechanisms is promising for effective methods of treatment and prevention of the disease. Possible participants in these mechanisms are transposons, which serve as drivers of epigenetic regulation, since they form species-specific distributions of non-coding RNA genes in genomes in evolution.

Polygenic markers of survival and longevity in the antioxidant genes PON1, PON2, MTHFR, MSRA, SOD1, NQO1, and CAT in a 20-year follow-up study in the population from the Volga-Ural region.

Background: Genetic background of healthy or pathological styles of aging and human lifespan is determined by joint gene interactions. Lucky combinations of antioxidant gene polymorphisms can result in a highly adaptive phenotype, providing a successful way to interact with external triggers. Our purpose was to identify the polygenic markers of survival and longevity in the antioxidant genes among elderly people with physiological and pathological aging.

[A case of COVID-associated encephalopathy in a patient with multiple sclerosis].

A case of acute encephalopathy manifested with impaired consciousness, hemichorrhea, speech and cognitive impairment in a female patient with COVID-19 and multiple sclerosis is presented. In the literature, there are isolated reports of such a combination of diseases, and therefore difficulties arise in carrying out differential diagnosis and prescribing therapy. Given the limited knowledge about the long-term consequences of COVID-19, systematic analysis of such cases and follow-up of such patients is necessary.

Mendelian Randomization Analysis Identifies Inverse Causal Relationship between External Eating and Metabolic Phenotypes.

Disordered eating contributes to weight gain, obesity, and type 2 diabetes (T2D), but the precise mechanisms underlying the development of different eating patterns and connecting them to specific metabolic phenotypes remain unclear. We aimed to identify genetic variants linked to eating behaviour and investigate its causal relationships with metabolic traits using Mendelian randomization (MR). We tested associations between 30 genetic variants and eating patterns in individuals with T2D from the Volga-Ural region and investigated causal relationships between variants associated with eating patterns and various metabolic and anthropometric traits using data from the Volga-Ural population and large international consortia.

The Genetic Markers of Knee Osteoarthritis in Women from Russia.

Osteoarthritis is a chronic progressive joint disease that clinically debuts at the stage of pronounced morphologic changes, which makes treatment difficult. In this regard, an important task is the study of genetic markers of the disease, which have not been definitively established, due to the clinical and ethnic heterogeneity of the studied populations. To find the genetic markers for the development of knee osteoarthritis (OA) in women from the Volga-Ural region of Russia, we conducted research in two stages using different genotyping methods, such as the restriction fragment length polymorphism (RFLP) measurement, TaqMan technology and competitive allele-specific PCR-KASP.

[Tumor necrosis factor in the ejaculate as an indicator of reduced fertility].

Introduction: Pro-inflammatory cytokine - tumor necrosis factor-alpha (TNF) is one of the components of the seminal plasma proteome; its meaning has not been definitively revealed. A comparative analysis of the concentration of this protein in the blood serum and in the ejaculate and changes in its level in the semen of men with infertility is f scientific interest.

The Purpose Of The Study: determination of TNF- level in the blood serum and seminal plasma of healthy men and patients with reduced fertility.

Molecular tools are crucial for malaria elimination.

The eradication of Plasmodium parasites, responsible for malaria, is a daunting global public health task. It requires a comprehensive approach that addresses symptomatic, asymptomatic, and submicroscopic cases. Overcoming this challenge relies on harnessing the power of molecular diagnostic tools, as traditional methods like microscopy and rapid diagnostic tests fall short in detecting low parasitaemia, contributing to the persistence of malaria transmission.

[Restorative capability of traditional Chinese medicine in autoimmune diseases of nervous system: a literature review].

Autoimmune diseases of the nervous system are characterized by the formation of pronounced neurological deficiency and often lead to disability. Complementary medicine as an adjuvant or preventive therapy of various diseases, including autoimmune ones, is increasingly attracting the attention of doctors and researchers. Traditional Chinese medicine (TCM) has a complex of treatment methods, including acupuncture, phytotherapy, nutrition, physical exercises and other methods that are often used in common with the recognized approaches of the official medical science.

[Serum ghrelin changes after bariatric surgery].

Objective: To study the effect of bariatric surgery on serum ghrelin in patients with morbid obesity.

Material And Methods: We experimentally analyzed serum ghrelin in 96 rats. Of these, 84 rats underwent sleeve gastrectomy, and 12 rats comprised the control group (no surgery).

Assessment of the botanical origin of Saudi Arabian honey samples to identify pollen with chromatographic tools and packing and storage.

The increasing demand for honey purification and authentication necessitates the global utilization of advanced processing tools. Common honey processing techniques, such as chromatography, are commonly used to assess the quality and quantity of valuable honey. In this study, 15 honey samples were authenticated using HPLC and GC-MS chromatographic methods to analyze their pollen spectrum.

Modelling of macrophage responses to biomaterials : state-of-the-art and the need for the improvement.

The increasing use of medical implants in various areas of medicine, particularly in orthopedic surgery, oncology, cardiology and dentistry, displayed the limitations in long-term integration of available biomaterials. The effective functioning and successful integration of implants requires not only technical excellence of materials but also consideration of the dynamics of biomaterial interaction with the immune system throughout the entire duration of implant use. The acute as well as long-term decisions about the efficiency of implant integration are done by local resident tissue macrophages and monocyte-derived macrophages that start to be recruited during tissue damage, when implant is installed, and are continuously recruited during the healing phase.

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

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.

MicroRNAs in meningiomas: Potential biomarkers and therapeutic targets.

Meningiomas, characterized primarily as benign intracranial or spinal tumors, present distinctive challenges due to their variable clinical behavior, with certain cases exhibiting aggressive features linked to elevated morbidity and mortality. Despite their prevalence, the underlying molecular mechanisms governing the initiation and progression of meningiomas remain insufficiently understood. MicroRNAs (miRNAs), small endogenous non-coding RNAs orchestrating post-transcriptional gene expression, have garnered substantial attention in this context.

MiRNAs as new potential biomarkers and therapeutic targets in brain metastasis.

Brain metastases represent a formidable challenge in cancer management, impacting a significant number of patients and contributing significantly to cancer-related mortality. Conventional diagnostic methods frequently fall short, underscoring the imperative for non-invasive alternatives. Non-coding RNAs (ncRNAs), specifically microRNAs (miRNAs) and long non-coding RNAs (lncRNAs), present promising avenues for exploration.

[Prolonged spinal and sacral neurostimulation in children with pelvic organ dysfunction: preliminary analysis].

Objective: To evaluate the clinical efficacy of long-term spinal and sacral programmable neurostimulation for pelvic organ dysfunction in patients with myelodysplasia and chronic dysfunction of the bladder and rectum.

Material And Methods: A retrospective study included 32 children aged 1-17 years (mean 10.7) with myelodysplasia, pelvic organ dysfunction and ineffective therapy including botulinum therapy and exclusion of tethered spinal cord syndrome.

Circulating exosome long non-coding RNAs are associated with atrial structural remodeling by increasing systemic inflammation in atrial fibrillation patients.

Background: Atrial fibrillation (AF) is the most common cardiac arrhythmia with severe clinical sequelae, but its genetic characteristic implicated in pathogenesis has not been completely clarified. Accumulating evidence has indicated that circulating exosomes and their carried cargoes, such as long non-coding RNAs (lncRNAs), involve in the progress of multiple cardiovascular diseases. However, their potential role as clinical biomarkers in AF diagnosis and prognosis remains unknown.

[CT-predictors of unfavorable outcome in hemorrhagic stroke].

Objective: To analyze the relationship between the changes on non-contrast CT of the head in patients with acute hemorrhagic stroke and its unfavorable outcome within 90 days.

Material And Methods: The retrospective analysis of the clinical, demographic parameters and results of CT of the head of all patients admitted to the stroke unit of the district hospital between January 2015 and December 2021 was performed. The data of 131 patients were included in the work (52% males), average age was 65.

The role of lncRNA-mediated ceRNA regulatory networks in liver fibrosis.

In the dynamic realm of molecular biology and biomedical research, the significance of long non-coding RNAs (lncRNAs) acting as competing endogenous RNAs (ceRNAs) continues to grow, encompassing a broad spectrum of both physiological and pathological conditions. Particularly noteworthy is their pivotal role in the intricate series of events leading to the development of hepatic fibrosis, where hepatic stellate cells (HSCs) play a central role. Recent strides in scientific exploration have unveiled the intricate involvement of lncRNAs as ceRNAs in orchestrating the activation of HSCs.

Integrative bioinformatics analysis of miRNA and mRNA expression profiles and identification of associated miRNA-mRNA network in intracranial aneurysms.

Background: Intracranial aneurysms (IAs) represent protrusions in the vascular wall, with their growth and wall thinning influenced by various factors. These processes can culminate in the rupture of the aneurysm, leading to subarachnoid hemorrhage (SAH). Unfortunately, over half of the patients prove unable to withstand SAH, succumbing to adverse outcomes despite intensive therapeutic interventions, even in premier medical facilities.

Psychometric properties of the Russian version of the Edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen.

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative condition with observable cognitive and behavioral impairment. The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) is a tool developed specifically for people with ALS (pwALS) and previously translated into Russian, but the psychometric properties have not yet been explored. The aim was to explore and determine the psychometric properties of the Russian-version of ECAS (ECAS-R).