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: 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), 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 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.

Abstract: Numerous researches conducted in Russia, Bulgaria, Japan, and China on B.pubescens, B. pendula, B.rezniczenkoana (Litv) Schischk, B.humilis Schrank, B.mandshurica Rgl Nakai found that birch barks and leaves contain antioxidants and they have anti-cancer, anti-fungi, antibac- terial and anti-inflammatory properties, protect liver and promote bile secretion. Flat leaved birch (B.platyphylla Sukacz) cortex contains betulin and lupeol of triterpenoids and it’s leaves contain flavonoid and polyphenol compounds. The amounts of compounds found in the cortex are smaller than leaves. Specifically, the amount of flavonoid in leaves is more contained than the that of cortex and leaf buds. In any pharmacology study of new medicines, determination and evaluation of toxicity is the first priority. According to scientific evidences that birch leaves are considered to have less toxins. Not many studies have been conducted on determining toxicity of birch leaves in Mongolia. Therefore, the purpose of this research is to study the species of birches, hippolytii birch (B.hippolytii. Sukacz) and flat leaved birch (B.platyphylla. Sukacz), that were noted to have medical properties in traditional medications and identify their acute toxicity using dry extract and determine mortality dosage (LD₅₀) on animals. Research materials and methods: Evaluation of the acute toxicity of birch leaves was conducted in Pharmacology laboratory of Monos group’s Drug Research Institute between June 19, 2020 and August 10. In this research, 150-204 g of WISTAR breed non-linear 44 white rats were used and 20 g of B.Hippolytii’s dry extract and 20 g of B. Platyphylla ‘s dry extract were injected.
The experiments to determine the toxicity of dry extracts of B. hippolytii and B. platyphylla (LD₅₀) were conducted according to Litchfield and Wilcoxon’s method and subcutaneous injects were per formed in the pelvic area of the rats. Results of determining acute toxicity level The experiments to determine the acute toxicity level of the birch’s dry extracts followed Litchfield and Wilcoxon’s method with 2-stage. LD₅₀ level was determined from the first stage of the research using G.N.Pirshen’s method and the toxicity level was identified using K.K.Sidorov’s toxicity categorization.
From the acute toxicity research, no-observed-adverse-effect level (NOAEL), animal daily dosage and human daily dosage (experimental) were determined. LD₅₀ 2950 mg/kg was determined as a result of acute toxicity research of B.hippolytii and B.platyphilla leaves’ dry extract.

Abstract: The birch leaves were used as a substitute for birch bark, buds and chaga of birch in traditional medicine because the birch leaves are considered to be less toxic. Numerous researches conducted in Russia, Bulgaria, Japan, and China on B.pubescens, B. pendula, B.Rezniczenkoana (Litv) Schischk, B.humilis Schrank, and B.mandshurica Rgl Nakai found that birch barks and leaves contain antioxidants and they have anti-cancer, anti-yeast, antibacterial, anti-inflammatory, liver protective and bile secretion induction properties. The studies conducted on animals with diseases showed that the birch leaves had anti-inflammatory properties on the gastric mucosa during acute stress, as well as anti-biliary and giardiasis. The birch leaf phytopreparations experimentations used on animals showed reduced peripheral tissue insulin resistance and lowered blood sugar. Mongolian traditional medicinal journals noted that the birch barks are used to treat inflammatory acute diseases. Therefore, this study was performed to determine the effects of two species of birch leaves on blood sugar and antioxidant activities in diabetes-induced rats. The study materials and methods: The study was conducted in the Pharmacology Research Laboratory of the Monos Group’s Institute of Pharmacology. 40 WISTAR, non-linear white rats weighing 150-204 g were used in the experiments. Dry extract of birch leaves of the two species (Alloxan monohydrate Tokyo Chemical Industry LTD), IGM-100 3A blood glucose meter (Blood glucose test meter, Infopia LTD, Brussels Belgium) and sugar test (Blood glucose test strip only, province, China) were used for the experiment. Lenzen’s (2008) method was used to induce Alloxan diabetes in the rats and the antioxidant properties were determined by the antioxidant activity kit (Rat Malondialchehyche Elisa KIT, cat. № EKRAT- 0266, Jilin). Study Result: The blood glucose level of the control group with diabetes lowered from 31.5 mmol/l to 17.1 mmol/l in 14 days. As for the B.platyphylla Sukacz group, the blood glucose level reduced to 6.3 mmol/l and the B.hippolytii. Sukacz group’s blood glucose level reduced to 6.9 mmol/l in 14 days.
The study results showed that B.hippolytii Sukacz birch leaves and B.platyphilla Sukacz birch leaves’ extracts reduced the maximum level of MDA dilution (4.8 nmol/ml) of B.hippolytii Sukacz and B.platyphilla Sukacz groups by 33.9% and 53.5% respectively. This suggests that the birch leaves had antioxidant effect. Conclusion B.hippolytii Sukacz birch leaves and B. platyphilla (Sukacz) birch leaves lowered the blood glucose level and had antioxidant properties on diabetes.

Abstract Trees and shrubs of the genus Betula (Betulaceae) inhabit various ecosystems in temperate and boreal climate zones of the northern hemisphere. The healing properties of Betula bark and bark extracts have been known for a long time in traditional medicine in different parts of the world. Several species of Betula have traditionally been used for the treatment of various inflammatory diseases including arthritis. The purpose of this review is to provide updated, comprehensive and categorized information on the botany, traditional uses and phytochemical research of Betula species in order to explore their therapeutic potential and evaluate future research opportunities.

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.