Journal of Medical Genetics and Clinical Biology
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EARLY DIAGNOSTIC CRITERIA OF RENAL INJURY AND COORDINATION OF TREATMENT IN PATIENTS WITH CHRONIC HEART FAILURE
Get PDFObjective: This study aimed to examine the clinical, functional, echocardiographic, and biomarker characteristics of chronic heart failure (CHF) patients with and without renal dysfunction, given the frequent coexistence of both conditions and their complex management challenges. Method: A total of 129 CHF patients were evaluated and divided into two groups based on renal function. Clinical symptoms, six-minute walk test results, echocardiographic findings, and serum biomarker levels were compared. Results: Patients with renal dysfunction exhibited more severe symptoms, higher Clinical State Scale scores, shorter walking distances, and more advanced diastolic failure with greater ventricular remodeling. NT-proBNP, NGAL, KIM-1, and cystatin C levels were significantly elevated in the renal dysfunction group, whereas creatinine showed only minor increases. This discrepancy indicates the limited sensitivity of traditional renal markers in detecting early tubular injury. Novelty: The study highlights the diagnostic value of novel renal biomarkers in CHF patients, demonstrating their potential for early detection of subclinical kidney damage and improved risk stratification, ultimately contributing to timely interventions and better prognostic outcomes
THE USE OF EMPAGLYFLOSINE IN PATIENTS WITH CHRONIC CARDIAC FAILURE AND DYSFUNCTION OF THE KIDNEYS
Get PDFObjective: This study aimed to evaluate the effects of empagliflozin on carbohydrate metabolism and lipid profile in patients with chronic heart failure and kidney dysfunction. Method: A total of 54 patients were enrolled and received empagliflozin therapy for six months. Clinical parameters, including fasting glucose, glycated hemoglobin (HbA1c), insulin levels, total cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglycerides, and glomerular filtration rate (GFR), were measured before and after treatment to assess metabolic and renal outcomes. Results: The findings demonstrated significant reductions in glucose, HbA1c, insulin, total cholesterol, LDL, and triglycerides, alongside an increase in HDL levels, while GFR remained stable throughout the treatment period. These outcomes suggest favorable metabolic modulation without deterioration of renal function. Novelty: This study provides novel clinical evidence supporting the dual cardiometabolic benefits of empagliflozin in patients with concurrent heart failure and renal impairment, emphasizing its therapeutic potential beyond glycemic control in improving overall metabolic health and cardiovascular protection
THOROUGH BIOINFORMATICS EXAMINATION REVEALS NOC4L AS A PROGNOSTIC INDICATOR IN LUNG ADENOCARCINOMA
Get PDFObjective: This study systematically investigates the prognostic significance of nucleolar complex-associated protein 4 homolog (NOC4L) in lung adenocarcinoma (LUAD) and explores its associations with clinicopathological parameters, immune microenvironment components, and molecular pathways. Method: A bioinformatics-based approach was applied using publicly available databases including Kaplan–Meier Plotter, GEPIA2, UALCAN, and TIMER2.0. Survival analyses encompassed overall survival (OS), disease-free survival (DFS), first progression survival (FPS), and post-progression survival (PPS). Correlations with tumor stage, nodal metastasis, histological subtypes, tumor-infiltrating immune cells, and p53 pathway genes were evaluated. Results: High NOC4L expression was consistently associated with poor prognosis across all survival indicators and correlated with advanced tumor stage, nodal metastasis, and aggressive histological forms. Elevated NOC4L expression showed positive correlations with immunosuppressive cells such as myeloid-derived suppressor cells and cancer-associated fibroblasts, and negative correlations with cytotoxic CD8⁺ T cells. Novelty: This study identifies NOC4L as a potential prognostic biomarker in LUAD, linking its overexpression to immune suppression and tumor aggressiveness, thereby suggesting its role in cancer progression and its potential as a therapeutic target
COVID-19–RELATED LUNG INJURY: A HISTOPATHOLOGICAL OVERVIEW
Get PDFObjective: To provide a comprehensive review of the key histopathological features associated with COVID-19–related lung injury and to clarify the extent of vascular and inflammatory involvement in the disease. Method: A literature review analyzing reported histopathological findings in COVID-19 lung specimens, comparing them with other viral infections such as H1N1 influenza, and correlating them with clinical and radiological data. Results: Findings consistently highlight diffuse alveolar damage (exudative and proliferative phases), type II pneumocyte hyperplasia, squamous metaplasia, intra-alveolar hemorrhage, microthrombosis, and occasional osseous metaplasia. Additional observations include inflammatory infiltrates, endothelial injury, and cytokine-related damage (e.g., IL-6 upregulation). COVID-19 shows more extensive alveolar and vascular involvement than many other viral infections, though findings vary across patients and comorbidities. Novelty: The review underscores that although several histopathological features overlap with other viral pneumonias, the severity of vascular injury and the complexity of the inflammatory response in COVID-19 distinguish it. It also stresses the diagnostic value of integrating histopathological, clinical, and radiological evidence to better understand disease pathogenesis
DIRECT EFFECT OF COMORBID MENTAL DISORDERS ON THE CLINICAL COURSE OF ALCOHOLISM
Get PDFObjective: This study aims to investigate the direct effect of comorbid mental disorders on the clinical course of alcoholism, emphasizing the complexities involved in diagnosis, treatment, and rehabilitation. Method: A comprehensive analysis was conducted through a cross-sectional study involving patients diagnosed with alcohol use disorder (AUD) and co-occurring mental health conditions. Data were collected using standardized psychiatric assessments and clinical evaluations from both narcology and psychiatry specialists. Results: The findings reveal that the presence of comorbid mental disorders significantly exacerbates the severity and chronicity of alcoholism, leading to poorer treatment outcomes, increased relapse rates, and heightened resistance to standard therapeutic interventions. Patients with dual diagnoses exhibited more complex clinical profiles, necessitating integrated and multidisciplinary treatment approaches. Novelty: This study highlights the critical need for dual-specialist involvement in the management of AUD with comorbid mental disorders, offering new insights into integrated treatment frameworks that can enhance clinical outcomes and reduce the burden of relapse
THE ORIGIN, DIAGNOSIS AND MODERN CLINICAL DIAGNOSTIC METHODS OF MYOCARDIAL INFARCTION
Get PDFObjective: This study aims to explore the origin, diagnosis, and modern clinical diagnostic methods of myocardial infarction, a critical condition caused by the disruption of blood supply to the heart muscle. Method: A comprehensive review of current literature and clinical guidelines was conducted, focusing on the pathophysiological mechanisms, diagnostic criteria, and advancements in diagnostic technologies. The study analyzed data from clinical trials, imaging techniques, and biomarker evaluations to assess the effectiveness of contemporary diagnostic approaches. Results: The findings indicate that myocardial infarction predominantly results from coronary artery occlusion, leading to ischemia and necrosis of the myocardial tissue. Diagnostic advancements include high-sensitivity cardiac troponin assays, electrocardiography (ECG), echocardiography, and coronary angiography, which have significantly improved early detection and risk stratification. Additionally, non-invasive imaging modalities such as cardiac MRI and CT angiography enhance diagnostic accuracy. Novelty: This study highlights the integration of novel biomarkers with advanced imaging techniques as a transformative approach in the early diagnosis and management of myocardial infarction, offering new insights into improving patient outcomes through rapid and precise clinical assessment
THE RELATIONSHIP BETWEEN GUT MICROBIOME ALTERATIONS AND HEPATOCELLULAR CARCINOMA DEVELOPMENT IN CHRONIC HEPATITIS B PATIENTS: A CLINICAL AND MICROBIOLOGICAL STUDY FROM IRAQ
Get PDFObjective: To investigate the relationship between gut microbiome composition and the development of HCC in Iraqi patients with chronic HBV infection. Method: A cross-sectional case-control study was conducted involving 150 participants divided into three groups: HBV with HCC (n=60), HBV without HCC (n=60), and healthy controls (n=30). Clinical, biochemical, and microbiome data (16S rRNA sequencing of fecal samples) were collected. Statistical analyses included ANOVA, chi-square, and Pearson correlation. Results: Patients with HCC exhibited significant dysbiosis, characterized by decreased microbial diversity (Shannon index: 2.8 ± 0.4) compared to HBV-only (3.6 ± 0.5) and controls (4.1 ± 0.3), p<0.001. Increased abundance of Bacteroides fragilis and Enterobacteriaceae correlated with higher AFP levels (r=0.63, p<0.001). Novelty: Gut microbiome alterations are associated with HCC development in chronic HBV patients. These findings suggest potential microbiome-based biomarkers for early detection and therapeutic strategies
HOST-PARASITE GENOMIC INTERACTIONS IN LEISHMANIASIS: EMERGING DIAGNOSTIC BIOMARKERS AND PREDICTIVE GENE SIGNATURES
Get PDFObjective: This review aims to explore the genetic underpinnings of Leishmaniasis, focusing on host-parasite genomic interactions and their implications for diagnostics, treatment, and control. Method: The study synthesizes recent advancements in host-parasite genomics, highlighting genetic polymorphisms in the host's immune response and parasite-mediated virulence determinants, identified through high-throughput sequencing and multi-omics analyses. Results: Key findings include the identification of genetic markers associated with immune responses and disease severity, as well as parasite traits influencing tissue tropism and survival. Co-regulated gene networks have been revealed, underscoring the dynamic interplay between host immunity and parasite adaptability. Novelty: The review identifies the potential for genomic biomarkers to differentiate asymptomatic carriers from active cases, predict treatment failure, and enable personalized treatment strategies. Furthermore, it discusses the prospects of genomic insights in developing targeted vaccines and enhancing control programs for leishmaniasis. This work contributes to precision medicine and the future control of leishmaniasis through the application of genomic biomarkers
LABORATORY DIAGNOSTICS OF CERVICAL CANCER
Get PDFObjective: This study examines current laboratory diagnostic techniques for cervical cancer, focusing on their application in diverse healthcare settings, with the goal of improving early detection and management. Methods: The research explores various diagnostic methods, including Pap smears, HPV DNA testing, and visual inspection with acetic acid (VIA), alongside advancements such as liquid-based cytology, molecular biomarkers, and artificial intelligence (AI). Comparative analysis highlights their effectiveness, sensitivity, and suitability across resource-diverse contexts. Results: Findings reveal that co-testing with cytology and HPV DNA testing offers superior sensitivity, while molecular diagnostics and liquid biopsy show promise for precision medicine. AI-based tools enhance diagnostic efficiency, particularly in underserved regions. However, challenges in accessibility, cost, and expertise persist in low-resource settings. Novelty: This study underscores the transformative potential of emerging technologies like AI-assisted diagnostics and liquid biopsy, emphasizing their role in bridging healthcare disparities and supporting the World Health Organization’s goal of eliminating cervical cancer by 2030
CLINICAL EFFICACY OF MINIMALLY INVASIVE INTERVENTIONS IN THE TREATMENT OF BILITY PERITONITIS AS A COMPLICATION OF OPERATIONS FOR CHOLELITHIASIS
Get PDFObjective: This study analyzed 49 cases of bile peritonitis caused by bile leakage after bile duct surgeries, aiming to identify causative factors and assess the effectiveness of various treatments. Postoperative bile peritonitis incidence was found to be 0.8%, with "small" bile duct injuries accounting for 57.2% and main bile duct damage contributing to 42.8%. Methods: Diagnostic and therapeutic approaches included ultrasound-guided punctures, transduodenal endoscopic interventions, and laparoscopic techniques. Cases of main bile duct damage identified within 48 hours were treated with high-precision Roux-en-Y gastrointestinal anastomosis (GEA). Results: Minimally invasive methods effectively avoided relaparotomy in 93.3% of patients with "small" bile duct injuries. In contrast, early detection and surgical precision in managing main bile duct injuries provided optimal outcomes, emphasizing the criticality of timely intervention. Novelty: This study highlights the significant role of minimally invasive techniques and early detection in managing bile peritonitis, reducing the need for relaparotomy, and improving patient outcomes. The findings underscore the utility of combining advanced diagnostic and surgical strategies for bile duct injuries