Airat Bilyalov

Kazan (Volga Region) Federal University ·  Institute of Fundamental Medicine and Biology

The study of adrenal disorders is a key component of scientific research, driven by the complex innervation, unique structure, and essential functions of the adrenal glands. This review explores the use of non-traditional animal models for studying congenital adrenal hyperplasia. It highlights the advantages, limitations, and relevance of these mod...

Myelodysplastic syndrome (MDS) is a clonal disease derived from hematopoietic stem cells, characterized by ineffective hematopoiesis (resulting in peripheral blood cytopenia) and an increased risk of transformation into acute myeloid leukemia. MDS is caused by a complex combination of genetic mutations resulting in a heterogeneous genotype. Genetic...

The extraocular muscles (EOMs) possess unique characteristics that set them apart from other skeletal muscles. These muscles, responsible for eye movements, exhibit remarkable resistance to various muscular dystrophies and aging, presenting a significant contrast to the vulnerability of skeletal muscles to these conditions. In this review, we delve...

The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has led to an increased recognition of its potential to induce neurological complications in the post-infection phase. This paper presents the case study of a 67-year-old male who experienced a severe SARS-CoV-2 infection, followed by the development of myopathy after 11–...

The extraocular muscles (EOMs) possess unique characteristics that set them apart from other skeletal muscles. These muscles, responsible for eye movements, exhibit remarkable resistance to various muscular dystrophies and aging, presenting a significant contrast to the vulnerability of skeletal muscles to these conditions. In this review, we delve...

Simple Summary This study addresses the global healthcare challenge of cancer by investigating hereditary cancer syndromes (HCS) and their genetic underpinnings. Using a multigene hereditary cancer panel, we examined Russian patients with suspected HCS, revealing that 21.6% had pathogenic or likely pathogenic genetic variants. Predominant mutations...

Malignant neoplasms, including pancreatic cancer and melanoma, are major global health challenges. This study investigates melanoma pancreatic syndrome, a rare hereditary tumor syndrome associated with CDKN2A gene mutations. CDKN2A mutations contribute to a lifetime risk of melanoma ranging from 28% to 67%. This study reports the clinical features...

Determination of cancer risk factors allow us to develop diagnostics tests that improved identification and reduced the rate of mortality of most frequent cancer diseases including breast cancer, prostate cancer, gastrointestinal tumors. Today individual risk of breast cancer considers personal genetics, medical history of patient, lifestyle, and a...

Gastric cancer is a major challenge in modern oncology due to its high detection rate and prevalence. While sporadic cases make up the majority of gastric cancer, hereditary gastric cancer is caused by germline mutations in several genes linked to different syndromes. Thus, identifying hereditary forms of gastric cancer is considered crucial global...

Autoimmune gastritis (AIG) is an immuno-mediated disease characterized by the production of antibodies to the parietal cells of the stomach, which leads to the loss of the internal Castle factor and decrease in the production of hydrochloric acid. Diagnosis of AIG remains difficult due to the lack of symptoms at early stages, ineffective or costly...

Background: Approximately 5-10% of all cancers are associated with hereditary cancer predisposition syndromes (HCPS). Early identification of HCPS is facilitated by widespread use of next-generation sequencing (NGS) and brings significant benefits to both the patient and their relatives. This study aims to evaluate the landscape of genetic variant...

Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in the literature....

Introduction: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (VSVS;OMIM#615828) is an extremely rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in the worl...

Bariatric surgery is the most effective method of morbid obesity treatment. Venous thrombosis is a rare but serious complication that can occur after bariatric surgery. The article presents a clinical observation of thrombosis in a patient after gastric bypass. A 42-year-old patient underwent gastric bypass surgery for grade 2 obesity (BMI 42 kg/m²...

The article presents data on the regeneration of the auricle tissues of Acomys cahirinus mice (n=12) and Balb/c mice (n=12). Two experimental models were used: a full-thickness perforated defect with a diameter of 3 mm and subtotal removal of the auricle. Macrophotography and histological examination using general histological stains and detection...

Von Hippel-Lindau syndrome (VHLS) (VON HIPPEL-LINDAU SYNDROME; VHLS OMIM # 193,300) is an inherited familial cancer predisposition syndrome caused by mutations in the VHL gene located on 3p25.3. It is a rare hereditary autosomal dominant disease with a population frequency of one in 36,000 people. VHLS is characterized by a predisposition to the de...

The article describes the experience of using photodynamic therapy in the treatment of skin metastases of a patient with breast cancer. The authors note the high effectiveness of this method of treatment in combination with safety. The obtained data allow us to conclude that photodynamic therapy is a very promising method of treating this cohort of...

There is a strong unmet need for bone grafts and substitutes combining osteoinductive capacities and biophysical properties for using them in minimally invasive surgical interventions. We have developed three variants of injectable gene-activated bone substitutes containing three components: octacalcium phosphate microgranules (OCP), plasmid DNA de...

Two variants of gene-activated hydrogels based on sodium alginate containing plasmid DNA with the gene of vascular endothelial growth factor (VEGF-A) are developed. The former represented alginate hydrogel without additional components; the latter contained up to 25 wt % of octacalcium phosphate (OCP) micrograins. Alginate-based hydrogels without O...

The number of studies related with gene-activated matrices is increasing annually; the first-in-class product has been already implemented into clinical practice for bone grafting indications. Considering specificity of the gene-activated matrices mechanism of action determined by gene constructs, there is a demand to standardize the methods allowi...

Photodynamic therapy (PDT) is a minimally invasive therapeutic modality used for the treatment of a variety of cancers and benign diseases. The destruction of unwanted cells and tissues in PDT is achieved by the use of visible or near-infrared radiation to activate a light-absorbing compound (a photosensitizer), which, in the presence of molecular...

Optimization of the reparative regeneration of striated skeletal muscle tissue is actual for clinical practice. Volumetric muscle loss usually heals through the fibrous scar formation. Herein, there are numerous of methods under developed focused on reparative myogenesis induction. One of the promising approaches in this area is formed by gene-acti...

Nodular formations of the thyroid gland are quite a widespread pathology. The prevalence of nodular goiter in the population is present in 50–70% of the total population. Basically, thyroid nodes are benign and aren’t a direct threat to human life. Laser-induced thermotherapy is one of the minimally invasive methods of treatment. The main idea of l...

Injectable forms of biomaterials have significant prospects for development of minimally invasive medical technologies in regenerative medicine. In this study, we evaluated the opportunities of using synthetic and natural hydrogels, including those containing calcium phosphates and hydroxyapatite, to deliver gene constructs, plasmid DNA molecules c...

Hydrogels capable to optimize reparative regeneration and delivere biologically active components (drugs, cells, growth factors, gene constructs) in the implantation area are attracting increasing attention of developers due to high potential effectiveness of these medical devices and compliance of the approach with well-known medical trend - minim...

Objective of the research was to study the characteristics of the epidemiology of breast cancer (BC) in Kazakhstan over the past 20 years (1997-2016). The data on morbidity and mortality in breast cancer register and official state statistics of Kazakhstan are used. The source of the comparative data was GLOBALCAN2012, European Cancer Information S...

To find effective ways to stimulate chronic skin wounds healing (including deep burns, diabetic and trophic ulcers) is an actual multidisciplinary task. The aim of our study was to assess the potential of using autodermoplasty in combination with plasmid drug pCMV-VEGFA to optimize skin defects repair in the experiment. Autodermoplasty was performe...

Cell death is an important part of normal (physiological) and pathological histogenesis. In the past two decades, our knowledge of the processes of non-programmed and programmed cell death significantly enriched. The International Nomenclature Committee on Cell Death is constantly working, it regularly updates information on the terminology and dev...

Aim. Development of a model of hindlimb ischemia in rats to assess the effectiveness of gene and cell therapy. Methods. In the first stage of this approach the external iliac artery was ligated immediately after bifurcation of the common iliac artery. Then the femoral artery was ligated before its branching into the descending genicular, popliteal...