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.

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: Chronic kidney disease (CKD) is a global health problem. In Mongolia, urine is analyzed by methods of urine chemistry and urine sediment to diagnose kidney disease. The currently automated urine sediment analyzers have been widely used in clinical laboratories and are replacing traditional manual microscopic examination. Nonetheless, visual microscopic examination is still required in many cases. When chemical and sediment analyzers are used together, urine sediment could be confirmed under a microscope, if the results are inconsistent. Sternheimer-Malbin stain has contained a variety of dyes that help to distinguish particles (white blood cells, red blood cells, epithelial cells, casts, crystals, fatty drops, bacteria, yeast, trichomonas) in urine sediment, improve the differentiation between cell nuclei and cytoplasm, and provide more information about cell shape and image.
Therefore, the low-cost method that can be used on a daily basis.Although there are more than 4,500 laboratories in Mongolia that need to perform urinalysis, which is an important part of clinical laboratories, less than 10 percent of hospitals have fully automated sediment analyzers. For this reason, one of the most important issues in the clinical laboratories, the search for low-cost and useful methods for the analysis of urine sediments in order to provide access to services to the public. Our aim was the comparison of methods of the microscopic examination with Shternheimer-Malbin stain and fully automated UF-5000 analyzer for urine sediment. Methods: There was a comparative study, people who served the Clinical Central Laboratory of Mongolia-Japan Hospital received permission to participate in this research. One hundred five fresh, first morning, clean catch mid-stream urine samples were collected in accordance with standard operating instructions for urinalysis, between November 2020 and May 2021. Sternheimer-Malbin (SM) staining and direct microscopy observation methods with Fuchs-Rosenthal counting chamber were used to red blood cells (RBC), white blood cells (WBC) and epithelial cells (EC) in urine samples. The agreements between the automated urine analyzer and microscopic methods were calculated using Cohen’s kappa (k) with 95% confidence intervals (CI). Results: A total of 105 samples were collected and analysed in this study. The average age was 46.97±15.0and gender by 18% (n=19)were male and 82% (n=86) were female.
Compared to traditional manual methods and automated analyzer, the agreement within the same grade was 99/105 (94.3%) for erythrocytes, 96/105 (91.4%) for leukocytes, 92/105 (87.6%) for epithelial cells. And compared to Sternheimer-Malbin staining microscopy observation and automated analyzer, the agreement within the same grade was 98/105 (93.3%) for erythrocytes, 99/105 (94.3%) for leukocytes, 96/105 (91.4%) for epithelial cells. Agreement between traditional manual method and automated analyzer was higher than 85% and between Sternheimer-Malbin staining microscopy observation and automated analyzer was higher than 90%. The concordance between traditional manual method and automated analyzer was substantial (k=0.74, p<0.001; k=0.79, p<0.001) for RBC and EC, almost perfect (k=0.92, p<0.001) for WBC. Whereas the concordance between SternheimerMalbin staining microscopy observation and automated analyzer was substantial (k=0.70, p<0.001) for RBC, almost perfect (k=0.94, p<0.001; k=0.89, p<0.001) for WBC and EC. Comparison of Sysmex UF-5000 with microscopic particle counting methods resulted specificity was 98.9/100% for RBC, sensitivity was 97.7/95.3% and negative predictive value was 98.4/96.8% for WBC, sensitivity was 87.5/68.8% and negative predictive value was 97.8/94.7% for EC. Conclusion The Cohen’s k analysis result of comparisons between the SternheimerMalbin staining microscopic method and automated urine sediment analyzer showed significant almost perfect agreement (k=0.70-0.94, p<0.001).
The sensitivity and negative predictive value were high for both of WBC and EC were determined by Sternheimer-Malbin (SM) staining microscopy observation method. Results indicate the ability of a test to correctly identify those with the true positive and individual with a negative test result is truly negative better than comparison of Sysmex UF-5000 with traditional manual microscopic method assessment.

Background and Aims: Hepatocellular carcinoma (HCC) is a common cause of cancer related death in Mongolia. Early diagnosis is the very important management to increase successful treatment and survival rate. Glypican-3 (GPC3) protein is highly expressed in hepatocellular carcinoma (HCC) tissue and in serum of HCC patients. Recent studies have been conducted and suggested as a diagnostic biomarker for detecting HCC in the early stage. Therefore, we investigated the diagnostic value of the serum GPC3 level and compared it to the alpha-fetoprotein (AFP) level as a diagnostic biomarker of HCC. Methods: We enrolled a total of 90 participants and divided into 3 groups with HCC (30), with liver cirrhosis (LC/30) and healthy (30) as the control group (30). GPC3 and AFP serum (sGPC-3, sAFP) levels were measured using commercially available enzyme-linked immunosorbent assay kits. The diagnostic accuracy was analyzed using the receiver operating characteristics (ROC) curve and estimated sensitivity and specificity of each biomarker. Results: sGPC3 was significantly elevated in the HCC group as compared to liver cirrhosis and healthy subjects (658±138.2 pg/ml, 378±25.5 pg/ml, 356.3±29 pg/ml) respectively. sGPC-3 sensitivity was 96.6% and specificity was 100%. The area under the ROC curve (AUC) for GPC3 was 0.999 (0.996- 1.0).
In comparison, the mean of AFP was significantly higher in HCC (16.9±11.7 ng/ml) than in LC (6.7±7.6 ng/ml) and in healthy subject (3.3±2.1 ng/ml) and AFP sensitivity was 43,3 %, specificity was 95 % with an AUC of 0.808 (0.696- 0.921).
The combination of GPC-3 with AFP achieved the highest sensitivity (97.1%) and specificity (97%). Conclusion Serum GPC3 has a higher sensitivity than AFP for the early diagnosis of HCC. Combination of two markers showed greatest diagnostic accuracy.

Introduction: Air pollution has become one of the major problems in socio-economic and health issues in Mongolia. Among the various hazards of particulate matter (PM) pollutants, microorganisms in PM2.5 and PM10 are thought to be responsible for various allergies and for the spread of respiratory diseases. Recent studies have shown that PM2.5 particles can cause chronic heart failure, heart arrhythmias, and strokes, as well as lung damage, cirrhosis, inflammation, cancer, cardiovascular disease, and metabolic disorders. Furthermore, some studies have concluded that PM2.5 particles in the environment are a risk factor for gastrointestinal, liver, colon, and lung cancer as well as it affects the growth and metastasis of various cancer cells caused by other factors. In our country, the health effects of air pollution and the relationship between the pathogenesis of cancer research are scarce. Therefore, the study of the effects of PM2.5 particles on cancer cell proliferation, migration (metastasis) can provide a significant role for cancer treatment, diagnosis, and prevention. Purpose: Determining the effects of PM2.5 particles on cancer cell proliferation, migration (metastasis) in in-vitro Material and Methods: A human liver cancer cell line (HepG2), human gastric cancer cell line (AGS) were obtained from the central scientific research laboratory in the Institute of medical sciences. HepG2, AGS cells were seeded at a concentration of 1*105 cells/mL in a culture flask and cultured in RPMI-1640 medium supplemented with 10% FBS, 1% antibiotic mix (penicillin, streptomycin) in a humidified atmosphere of 5% CO2 at 37 °C. The cytotoxic effect of PM 2.5 in AGS, HepG2 cells were evaluated by MTT, CCK8 assays. AGS, HepG2 cells were incubated in 96 well plates for 24h then treated with different concentrations (0, 5, 10, 25, 50 and 100 μg ) of Bayankhoshuu, Buhiin urguu, and Zaisan samples for 24h, respectively. Results: Concentrations of 10, 25, and 50 μg/ml of samples collected from the Bukhiin urguu and Zaisan in March increased HepG2 cell growth, while doses of 25, 50 μg/ml of samples collected from Bayankhoshuu in March and December increased HepG2 cell growth. Therefore, concentrations of 25 and 50 μg/ml of samples collected from Bayankhoshuu in March increased AGS cell growth, while concentrations of 25, 100 and μg/ml of samples collected in December increased AGS cell growth. However, no cytotoxic effect was observed in the sample collected from Zaisan in March, whereas the PM2.5 sample enhanced AGS cell growth in dose dependent manner in December.(p <0.05) Conclusion High levels of heavy metals were detected in samples collected in December from Bayankhoshuu, Bukhiin urguu and Zaisan of Ulaanbaatar. Concentration of 25 μg/ml of samples collected from the Bukhiin urguu and Zaisan in March increased HepG2 cell growth. Concentrations of 25 μg/ml of PM2.5 collected from three regions around Ulaanbaatar increased HepG2 and AGS cell migration.

Introduction: The traditional microscopic method is to visually count the elements in the urine, but it is difficult to distinguish between the cells because they are not stained. Sternheimer Malbin staining, on the other hand, contains a variety of dyes that help to distinguish elements in urine sediment, improve the differentiation between cell nuclei and cytoplasm, provide more information about cell shape and image, and make it easier to differentiate kidney disease. Objective: To study the results of the reading of a fully automatic urine sediment analyzer of compared with the Sternheimer Malbin stained bright field microscope method. Research materials and methods: In this study included 150 people who served the MJTH of the MNUMS received permission to participate in the research. The urine sample collected in accordance with the standard operating instructions was counted by a fully automated analyzer and stained with Sternheimer Malbin dye and counted red cells (RBC), white blood cells (WBC), epithelial cells (EC), and renal epithelium (RTEC) under a microscope using a Fuchs-Rosenthal chamber. Results: 23.3% (n=35) of the respondents were male, 76.6% (n=115) were female, and the average age was 44.3±11.6. There 16.6% (25)/9.3% (14) of the RBCs were counted in excess of the reference volume when analyzed under an microscope stained with an automated urine sediment analyzer and Sternheimer-Malbin dye. For each WBC method, 45.4% (68)/41 (61)% and EC 24.7% (37)/23.3% (35) were counted above the reference volume. 90% (135)/32% (48) of the total samples were counted in excess of the RTEC reference volume. Comparing the performance of the automatic urine sediment analyzer with the light microscope method, the sensitivity and specificity were RBC-99.8%/99.1%, WBC-99.3%/99.6%, EC-99.7%/99.2, and RTEC-99.1%/99.2%. False-positive and false-negative results were rated for each RBC-99.9%/99.1%, WBC-99.3%/99.6%, EC 99.8%/99.2%, and RTEC-99.7%/99.9%, respectively. The positive likelihood ratio was RBC, WBC, RTEC 1.0, or the test was useless, while the negative likelihood ratio was RBC was very different, WBC was slightly different, EC was very different, and RTEC was very different. Positive and negative predictive value indicators RBC-99.3%/99.4%, WBC-99.4%/99.4%, EC-99.4%/99.5, RTEC-99.2%/99.1%, optimality for RBC, WBC, EC 99.4%, RTEC -99.1%. Conclusion
1. The results of an automated urine sediment analyzer and a bright field microscope stained by Sternheimer Malbin were similar for red blood cells, white blood cells, and epithelial cells, but different for renal tubular epithelial cells.
2. The resuls UF-5000 analyzer and bright field microscope analysis using Sternheimer Malbin dye were comparable.

Introduction: The complete blood count (CBC) is a frequently performed laboratory test today. This study evaluated the effects of temperature and sample storage time on parameters of CBC which could produce misleading results of clinical significance. Methods: In a cross-sectional study, CBC was checked in 20 randomly selected out-patients and baseline measurements were analyzed using the XN-2000 (Sysmex, Kobe, Japan) fully automated hematology analyzer. CBC was done all samples of storage at room temperature. Values were checked at time intervals of 0, 6, and 24 hr. Results: Among CBC parameters, white blood cell, red blood cell, hemoglobin, mean cell hemoglobin (MCH), neutrophils and lymphocytes were stable at time up to 6 h. Hematocrit increased between 0 and 24 hours, averaging 41.5% and 45.2%, respectively. MCV, RDW-SD, and RDW-CV increased between 0 and 24 hours. The mean value was statistically significant. There were 85.6fL/ 93.4fL (p<0.001), 40.7fL /48.2fL (p<0.001), 13.1% and 14.2% (p<0.05), respectively.
However, the MCHC was affected by time differences. (p <0.001 at 0 and 24 hours, p <0.001 at 3 and 24 hours). Platelet PDW, MPV, and P-LCR values increased between 0 and 24 h, respectively. Conclusion Whole blood samples were stored at room temperature for 24 hours for CBC tests, there were statistically significant differences in the size of red blood cells and platelets.

Research of function of vitamin D on immune system has been studying since the study revealed that vitamin D receptor is expressed on the surface of the immune cells. 1,2-dihydroxyvitamin D3 [1,25(OH)2D], physiologically active form, can be generated through hydroxylation of 25-hydroxyvitamin D3 [25(OH)D], inactive form of vitamin D, in a liver, connecting with specific VDR make biological action. Vitamin D make different biological actions depends on connecting with different immunological cells. Some studies indicated that Vitamin D plays pivotal role in antibacterial innate immune responses through regulating reaction of the main cells as macrophages and dendritic cells. Moreover, calcitriol, the active form of vitamin D, is connected with VDRE, modulates the innate immune response through directly inducing expression of catelicithin and β-defensin as antimicrobial peptides, reducing secretion of IL-1b, IL-6, TNF-a, RANKL, COX-2 as proinflammatory cytokines and increasing production of IL-10, an anti-inflammatory cytokine. Vitamin D plays in proliferation and differentiation of T and B cells and regulates the activities of over 500 genes. Vitamin D differently impacts on per se stages of T cells’ proliferation. Vitamin D indirectly mitigates the differentiation from immature B cells to plasma B cells while it directly impacts on regulation of overloaded production of antibodies in plasma B cells. In conclusion, vitamin D modulates the innate- and adaptive immune response through regulation on activation of APCells, proliferation and differentiation of immune cells, secretion of some antibacterial peptides.

Introduction: Base excision repair (BER) is mainly responsible for the correction of small base changes of DNA damage. BER pathway involved many enzymes including OGG1 and XRCC1. The defective DNA repair is associated with an increased risk of various cancers including hematologic malignancies-leukemia and myelodysplastic syndrome (MDS). However, it is deniably these polymorphisms alter the susceptibility and clinical outcome of MDS patients. The aim: This study was to evaluate the impact of polymorphisms in gene encoding one protein of BER system: XRCC1 Arg399Gln in MDS and healthy population. Methods: In this study, we recruited 60 health control group [median 47.9 years, 9 MDS subjects [median 56.6 years] were included in this study. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Allele and genotype frequencies were calculated by direct counting. Result: The frequencies of genotypes of XRCC1 Arg399Gln were as follows: Arg /Arg 1 (11%), Arg/Gln 6 (66%), Gln/Gln 2 (22%) in MDS and Arg /Arg 18.4%, Arg/Gln40%, Gln/Gln41.6% in health control for XRCC1 Arg399Gln. The result revealed that genotypes Arg399Gln increased the risk of MDS In conclusion this study is the first to analyze XRCC1 SNPs and their associated risk of MDS in Mongolian samples. To fully understand the role of DNA damage and DNA repair in the MDS, prospective studies are needed and other genes (OGG1 Ser326Cys, MUTYH Gln324His, APE Asp148Glu) of base excision repair pathway should be analyzed.