Background: Specifically, stomach cancer ranks as the fifth leading cause of cancer morbidity and mortality worldwide. Early-stage detection significantly improves survival rates, with over 90% of patients diagnosed at stages I and II living beyond five years. To improve the early detection of gastric cancer, it is necessary to complement the conventional method of endoscopic examination with biomarker analysis. We aimed to compare biomarkers such as pepsinogen C (PGC), matrix metalloproteinase 2 (MMP2), matrix metalloproteinase 9 (MMP9), and the cell proliferation marker Ki-67 with immunohistochemical analysis. Purpose: A comparative study and evaluation of biomarkers for the early detection of gastric cancer. Materials and Methods: The study was conducted using a retrospective cohort design. Research ethics issues were discussed at the meeting of the Medical Ethics Control Committee of the Ministry of Health on October 13, 2023, and permission to start the research was obtained (Resolution No. 23/051). The information was gathered based on the criteria for K29.3, K29.4, K31, and C1 diagnoses according to the international ICD 10 classification, and participants were selected accordingly. Proteins such as PGC, MMP2, MMP9, and Ki-67 were examined using a tissue microarray kit and evaluated through immunohistochemical analysis. Results: Negative gastric tumor markers PGC, Ki-67, MMP2 and MMP9 were evaluated by immunohistochemical analysis. The mean PGC protein staining values were 6.20±2.61 for chronic superficial gastritis, 5.45±2.47 for atrophic gastritis, 3.61±2.0 for metaplasia, and 3.31±1.75 for gastric cancer, with statistically significant differences between the groups (P<0.001). The mean Ki-67 protein staining values were 0.1 ± 0.4 for chronic superficial gastritis, 0.33 ± 0.55 for atrophic gastritis, 0.09 ± 0.39 for metaplasia, and 2.62 ± 0.78 for gastric cancer, also showing statistically significant differences (P<0.001). The mean MMP2 and MMP9 protein staining values were 0.2±0.76 and 1.2±2.04, respectively, for chronic superficial gastritis; 0.28±0.52 and 3.28±2.82 for atrophic gastritis; 0.35±1.04 and 1.12±1.45 for metaplasia; and 1.38±2.11 and 5.29±2.51 for gastric cancer, with all differences being statistically significant (P<0.001). Conclusion PGC protein, a negative tumor marker, decreases during the transition from a gastric cancer precursor to cancer. MMP2 protein, a marker of cell migration and metastasis, has little diagnostic value, while the expression of MMP9 and the Ki 67 are highly effective in gastric cancer. Immunohistochemical analysis of endoscopic biopsy tissue to detect the negative tumor marker PGC, the positive marker Ki-67, and MMP9 can be used for early detection of gastric cancer.

Background: Spinal Muscular Atrophy (SMA), an autosomal recessive disorder characterized by lower motor neuron loss, leads to progressive muscle weakness and atrophy. With a neonatal incidence ranging from 1:6000 to 1:11000, individuals affected by SMA face challenges in locomotor function. The advent of newborn screening tests, early diagnostic techniques, and the introduction of gene therapy have, however, shown promise in enabling the acquisition of these motor skills. Objective: This review article seeks to shed a light on current understandings of the epidemiology, clinical presentations, diagnostic methods, and treatments for spinal muscular atrophy, highlighting cutting edge approaches within the discipline. Methods: A thorough search was conducted on PubMed, Cochrane, National Institutes of Health, and Web of Science databases for recent research articles concerning SMA’s incidence, prevalence, clinical manifestations, early detection, genetic testing and contemporary gene therapy. Results: The prevalence of SMA stands at 1-2 cases per 100,000 population, with an incidence of approximately 8 cases per 100,000 live births. Pre-1995 studies exhibited varying prevalence rates due to using non molecular-biological methods, small localized populations, diagnostic errors, and regional characteristics. Diagnosis involving Multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), or next-generation sequencing (NGS) analysis to confirm SMN1 and SMN2 gene status aids in identifying carriers and SMA subtypes. Countries implementing newborn screening programs have demonstrated early SMA detection in asymptomatic newborns, contributing to reduced mortality and disability rates. Currently, several types of gene therapy are being used in the treatment of SMA. Conclusion The epidemiology of SMA varies between countries and regions. It is fully possible to confirm the disease, identify carriers and subtypes. The inclusion of SMA in newborn early detection programs is crucial for reducing infant mortality and disability, and several gene therapies have received approval from relevant authorities for SMA treatment. In Mongolia, it is possible to introduce tests to confirm the disease and determine carriers and subtypes.

Background: Serum natriuretic peptide (NT-proBNP) is a critical biomarker for diagnosing left ventricular dysfunction. Heart failure is the leading cause of mortality in chronic kidney disease (CKD), emphasizing the need for its early detection and prognosis. Objective: This study aimed to determine the serum NT-proBNP levels in participants with CKD and establish a cut-off value for predicting heart failure. Methods: A descriptive cross-sectional study was conducted from April 1 to July 1,2024. This study received approval from the Ethics Committee of the Institute of Medical Sciences (Approval No.24/01). A total of 117 CKD patients hospitalized in the Nephrology and Endocrinology Department of the third state hospital were enrolled based on predefined inclusion and exclusion criteria. Data were collected using questionnaires, laboratory and heart ultrasound test results. Serum NT-proBNP levels were measured using a rapid immunofluorescence quantitative analyzer. Data were analyzed with SPSS 26.0. Results: The mean age of the 117 participants was 57.9 ± 14.7 years, with 51.3% being male. The mean serum NT-proBNP level was 7686 ± 12149 pg/mL. Statistically significant differences were observed in serum creatinine, sodium, calcium, CKD stage, and arterial hypertension between genders (p<0.05). NT-proBNP levels in hemodialysis patients differed significantly between heart failure and non-heart failure groups (p<0.05). Significant differences were also found in hemoglobin, serum albumin, NT-proBNP levels, and CKD stages (p<0.05). NT-proBNP correlated significantly with risk factors such as hemodialysis, diabetes, and decreased systolic blood pressure (p<0.0001). A weak inverse relationship was noted between systolic blood pressure and NT-proBNP (R² = 0.16). The NT-proBNP cut-off value for predicting heart failure was 3027 pg/mL, with an AUC of 61.7% (sensitivity: 74.5%, specificity: 55%). Conclusion Serum NT-proBNP levels are elevated in CKD patients regardless of heart failure. The established cut-off value for NT-proBNP in CKD patients to detect heart failure was 3027 pg/mL, with moderate diagnostic utility (AUC = 61.7%).

Background: Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to the loss of the motor neurons. Approximately 95% of patients with SMA are homozygous for the deletion of SMN1 exon 7. With an incidence of 1/10.000 and a carrier frequency of 1/40 to 1/50, SMA is the most common genetic cause of death in infants. Purpose: To detect homozygous deletion of SMN1 exon 7 and to analyse the SMN1 copy number by molecular genetic analysis. Materials and Methods: In this study, 3 SMA patients with SMN1 gene homozygous deletion and 17 people of their relatives were included. Molecular genetic analysis was performed in the Central Scientific Research Laboratory of the Institute of Medical Sciences. DNA was extracted from peripheral blood, and its purity was assessed by spectrophotometer. Homozygous deletion of SMN1 gene was analyzed with allele-specific PCR, and the SMN1 gene copy number was evaluated by real-time PCR. Results: Among the five participants diagnosed with SMA by clinical symptom and electromyographic test, three cases were found to have homozygous deletion of exon 7 of the SMN1 gene, while two cases did not exhibit such mutation by the allele specific PCR analysis.
The mean age of study participants was 27.76±16.07 (ranging from 8 months to 52 years). Six of the 7 relatives of the first proband had 1 copy number of SMN1 (0.75±0.29) or were carriers of SMA, while one had 3 copy numbers (2.99) or no deletion of SMN1 gene. Additionally, 6 of the 7 individuals of the second proband had 1 copy number of the SMN1 gene (0.72±0.14), and 1 person had 2 copy numbers. All 3 relatives of the third proband had 1 copy number of SMN1 gene (0.96±0.37). Conclusion We consider that determination of SMN1 gene homozygous deletion and carrier testing can be performed by the PCR method locally. Further, it is necessary to implement the molecular genetic testing method into practice and to study the requirements and needs of early detection of SMA in the newborn screening program of Mongolia.