Journal of Medical Genetics and Clinical Biology
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BIOCHEMISTRY OF DNA: A STUDY OF CHEMICAL EFFECTS ON GENE EXPRESSION
The study of DNA biochemistry is pivotal to understanding the molecular mechanisms that govern gene expression. This research delves into the intricate chemical processes that influence DNA structure, function, and regulation. By examining the interplay between DNA and various chemical agents, such as methylating and acetylating compounds, we explore how these modifications impact gene expression. Our investigation encompasses both endogenous factors, like natural metabolic byproducts, and exogenous influences, including environmental toxins and pharmaceuticals. Through a combination of advanced biochemical techniques and computational modeling, we aim to elucidate the pathways through which chemical modifications alter gene expression patterns. This comprehensive analysis not only enhances our understanding of fundamental genetic processes but also provides insights into the development of novel therapeutic strategies for genetic and epigenetic disorders. The findings underscore the significance of chemical interactions in gene regulation and highlight potential avenues for targeted interventions in disease treatment and prevention
CLINICAL APPLICATIONS OF STEM CELL THERAPY IN THE FIGHT AGAINST CANCER
Stem cell therapy is emerging as a novel approach in the fight against cancer, with over 300 clinical trials exploring various stem cell types, including embryonic, adult, fetal, amniotic fluid, and human embryonic-like stem cells. These trials aim to treat a range of diseases, notably cancer, by leveraging the regenerative capabilities of stem cells. Cancer stem cells (CSCs), a subpopulation within tumors, are integral to tumor growth and resistance to conventional treatments due to their self-renewal properties. Innovative strategies, such as suicide gene therapy using genes like Cytosine Deaminase (CD), show promise in targeting these CSCs and enhancing treatment outcomes. This review discusses the dual role of stem cells in cancer therapy, highlighting their potential to both promote and inhibit tumor development, and underscores the need for well-characterized therapeutic stem cell banks equipped with anti-tumor genes. Future research directions and the potential of stem cell-based therapies to revolutionize cancer treatment are also explored
OSTEOARTHRITIS - RISE OF AN UNRECOGNIZED EPIDEMIC
Osteoarthritis (OA) is a degenerative joint disease characterized by the breakdown of cartilage, leading to pain, stiffness, and reduced mobility. Despite being the most common form of arthritis, OA is often underrecognized and undertreated. This article explores the rise of OA, its prevalence in developed versus developing nations, and the multifaceted factors contributing to its increasing incidence. We delve into the relationship between OA and nutritional factors, the impact of genetically modified foods and pesticides, and advancements in treatment options. By examining the latest research, we aim to highlight the need for greater awareness and more effective management strategies for this growing public health concer
MAIN CHARACTERISTICS OF THE SKIN DERMIS
General Background: The dermis, the skin's second layer, plays a crucial role in skin health and functionality. Positioned beneath the epidermis, it serves as a structural support for the skin. Specific Background: Comprised primarily of connective tissue, the dermis is rich in proteins such as collagen and elastin, which are essential for maintaining skin integrity and elasticity. Knowledge Gap: Despite the recognized importance of the dermis in dermatological health, detailed understanding of its composition and the role of the extracellular matrix (ECM) in skin aging and disease is limited. Aims: This study aims to elucidate the main characteristics of the dermis, focusing on its structural components and their contributions to skin health. Results: The findings highlight the predominance of collagen and elastin as the primary structural proteins, alongside the crucial role of hyaluronic acid in the ECM, which maintains hydration and resilience of the dermal layer. Novelty: This research offers new insights into the interplay between dermal components and skin aging, suggesting that a better understanding of these elements may inform therapeutic strategies for skin rejuvenation and disease management. Implications: The implications of this study extend to clinical practices, emphasizing the need for targeted interventions that enhance dermal health, thereby contributing to improved aesthetic and functional outcomes in dermatology. This knowledge could pave the way for innovative treatments aimed at preserving skin youth and preventing age-related skin disorders
FORENSIC ASPECTS OF CIRCULATORY DISORDERS IN BRAIN INJURIES
General Background: The analysis of forensic medical reports reveals persistent challenges in accurately identifying and assessing craniocerebral injuries. Specific Background: Repeated and additional forensic examinations often highlight shortcomings and errors attributed to a lack of understanding among experts regarding contemporary concepts related to traumatic brain injury (TBI), including its mechanisms, clinical manifestations, and differential diagnosis. Knowledge Gap: Despite advancements in medical knowledge, there remains a significant gap in the expertise of forensic professionals regarding the complexities of TBI, leading to inconsistencies in forensic assessments. Aims: This study aims to evaluate the current practices in forensic medical examinations of craniocerebral injuries and identify areas for improvement in the methodology of assessment. Results: The findings indicate that insufficient knowledge of TBI mechanisms and a lack of standardized approaches contribute to errors in forensic evaluations, ultimately affecting the quality of forensic medical reports. Novelty: This research emphasizes the need for enhanced training and a unified methodological framework for forensic experts to better understand and assess craniocerebral injuries. Implications: By addressing these deficiencies, the study underscores the importance of improving forensic practices, which could lead to more accurate diagnoses and assessments of TBI, thereby enhancing the reliability of forensic medical reports in legal contexts. This work advocates for the development of standardized guidelines and continuous education for forensic experts in the field
MORPHOFUNCTIONAL STATE OF THE WALL OF BRONCHI AND LUNG TISSUE STRUCTURES OF DIFFERENT CALIBER IN EXPERIMENTAL BRONCHOECTASIS
Objective: This study aims to investigate the structural and functional changes in the bronchial wall and lung tissue induced by experimental bronchiectasis in a rabbit model. Method: A total of 34 adult rabbits weighing 2-2.5 kg were subjected to bronchiectasis induction using a modified method involving the insertion of a sterile Capron thread into the tracheal cavity. The rabbits were examined at intervals of 3 to 6 months post-induction, with histological and morphometric analyses conducted on their respiratory tissues. Results: Significant findings included the presence of purulent-mucous exudate, thickening of the bronchial mucosa, and inflammatory infiltrates comprising lymphocytes, neutrophils, and histiocytes. The thickness of the bronchial walls and changes in lung tissue, including emphysema and atelectasis, were also observed, indicating progressive disease over the study period. Morphometric analysis showed a marked increase in the number of cells in the bronchi and lung tissues at 3, 4, and 5 months. Novelty: This study contributes new insights into the pathological progression of bronchiectasis in an animal model, demonstrating the dynamic changes in bronchial structure and inflammatory responses over time, which may have implications for understanding the disease in human populations
CAUSES AND CONSEQUENCES OF LATE DIAGNOSIS, TREATMENT OF CONGENITAL HYDRONEPHROSIS IN CHILDREN
Objective: This study aims to analyze the causes and consequences of late diagnosis of congenital hydronephrosis in children, focusing on its impact on renal function and the outcomes of surgical correction in cases diagnosed after the early stages of childhood. Methods: Retrospective analysis was conducted on 99 children (aged 8 months to 17.5 years) diagnosed with hydronephrosis postnatally, from 2010 to 2023, at the SODMC of Termez. All patients underwent clinical, laboratory, and radiological investigations, including ultrasound, CT scans, and urography, to evaluate the extent of renal involvement and determine appropriate surgical interventions. Results: Late diagnosis, primarily after 3 years of age (73.7% of cases), was linked to a latent disease course, often masked by nonspecific symptoms such as pyelonephritis. Hydronephrosis was more prevalent on the right side (51.5%), with 31.3% of children diagnosed with stage IV disease requiring nephrectomy. The most common etiology included aberrant vessels and pyeloternal segment stenosis. Surgical treatments included pyeloplasty (58.6%), antevasal anastomosis (10.1%), and nephrectomy (22.1%). Postoperative recovery was generally uncomplicated, with 68.6% of children showing reduced renal pelvis size and improved kidney function. Novelty: This study highlights the significant risk of renal damage associated with delayed diagnosis and emphasizes the need for early detection and timely surgical intervention to preserve renal function. It provides valuable insights into the management of hydronephrosis in children, particularly in regions with limited access to advanced diagnostic tools
BREAST CANCER SCREENING IN WOMEN AGED 45-65 IN SAMARKAND REGION, UZBEKISTAN: A CROSS-SECTIONAL ANALYSIS OF DATA FROM 2023
Objective: Breast cancer remains a leading cause of cancer-related mortality among women globally. Early detection through screening significantly reduces both morbidity and mortality. This study aims to evaluate the outcomes of breast cancer screening programs conducted in the Samarkand region of Uzbekistan in 2023, with a focus on participation rates, detection rates, and stage distribution across 17 districts and cities. Methods: Data were collected for women aged 45–65, including annual screening targets, the number of screenings performed, diagnosed cases, and cancer stage distribution (early stages 1–2 vs. late stages 3–4). Statistical analysis was used to determine screening completion and detection rates, as well as to assess regional disparities in program outcomes. Results: The screening program yielded promising results in terms of participation and early-stage cancer detection. A higher proportion of breast cancer cases were identified at early stages (1–2), indicating effective diagnosis in several areas. However, notable regional disparities were observed in both screening completion and detection rates, reflecting unequal access to services across districts. Novelty: This study provides a comprehensive regional analysis of breast cancer screening outcomes in Uzbekistan. It highlights the urgent need to address disparities in healthcare access to ensure equitable early diagnosis and treatment. The findings emphasize the importance of targeted public health interventions aimed at improving screening program effectiveness and reducing the burden of late-stage breast cancer
OPTICAL COHERENCE TOMOGRAPHY IN DIAGNOSTICS OF OPTIC NERVE DISEASES
Objective: To evaluate the efficacy of optical coherence tomography (OCT) in detecting early-stage eye diseases by providing high-resolution images of critical eye structures, including the retina, lens, and optic nerve. Methods: The study highlights the use of OCT during routine eye examinations to monitor asymptomatic changes in individuals, particularly those over 35 years old, when age-related structural changes in the eye are more prevalent. Results: OCT delivers detailed imaging of eye tissues, enabling clinicians to identify minor abnormalities that are imperceptible during standard examinations. This capability enhances early detection rates for conditions that develop without visible symptoms. Annual eye exams combined with OCT are particularly valuable for detecting early markers of potentially severe diseases. Novelty: This study underscores the critical role of OCT in preventive ophthalmology, emphasizing its unmatched precision in diagnosing age-related changes in eye structures before symptoms manifest, thus bridging the gap between routine check-ups and advanced diagnostic procedures
HISTOMORPHOLOGY OF KIDNEY OF EXPERIMENTAL ANIMALS AFTER MELOXICAM ADMINISTRATION
Objective: This study investigates the deleterious effects of nonsteroidal anti-inflammatory drugs (NSAIDs), specifically meloxicam, on renal tissue in albino rats. Methods: Sixteen Sprague Dawley albino rats were divided into two groups: Group A received normal saline, while Group B was administered meloxicam at a dose of 15 mg/kg/day via a feeding tube for 14 days. On day 15, all animals were sacrificed, and their kidneys were extracted, preserved, and sectioned. The kidney samples were stained with silver methenamine, PAS, and H&E, and renal histology was examined under a light microscope to assess changes in the renal tubules. Results: The study found that meloxicam caused significant damage to the distal and proximal convoluted tubules in Group B rats. Notable histological changes included tubule dilatation, epithelial flattening, rupture of the brush border in proximal tubules, and thickening of the basement membrane surrounding the tubular epithelium. Novelty: This research highlights the nephrotoxic effects of meloxicam, a commonly used NSAID, providing new insights into its potential harmful impact on renal health, which has not been widely emphasized in previous studies on its adverse effects