Background: Identifying pathogenic variants in the F8, F9 gene in patients with hemophilia A (HA) and Hemophilia B (HB) is crucial for improving genetic counseling, understanding genotype–phenotype correlations, assessing inhibitor risk, and establishing family-specific mutation profiles. Aim: To detect mutations in the F8 and F9 genes among people with hemophilia A and B diagnosed in Mongolia. Materials and Methods: Long-distance PCR were used to detect intron-22 and intron-1 inversions. Sanger sequencing identified nucleotide substitutions, deletion, and insertion in F8 and F9 gene. Result: Thirty-two male patients with HA (30 severe, one moderate, and one mild) from 27 unrelated families, eight patients with Hemophilia B were analyzed. Among 25 families with severe HA, pathogenic variants were found in 24 families (95.6%). Large structural rearrangements were detected in 22 patients from 19 families, including intron-22 inversion in 16 cases of 14 families, intron-1 inversion in four cases from three families, and two large deletions found in two unrelated families. In one severe case, no pathogenic variant was identified in the entire F8 gene. Small scale changes were identified in the remaining patients, including missense in three families and two frameshift variants, all associated with severe phenotype. We found novel c.2240del variant and classified as pathogenic. A known polymorphism (c.3864A>C) was identified in one patient with moderate HA, while a novel intronic deletion (c.1010-106delA) was detected in a patient with mild disease. Two families had a history of HB. A total of five different variants (c.223C>T; c.344A>G; c.464G>C; c.187_188del; and c.1314_1314delA) were identified in six patients with severe HB. Of these, two (c.187_188del and c.1314_1314delA) were novel. No variant in the entire F9 was found in two patients with mild HB. Nonsense c.223C>T (p.Arg75*) mutation was detected in two unrelated patients. Conclusion Intron-22 (56%) and intron-1 (12%) inversions were detected in families with severe HA. A novel c.2240del variant was also identified in association with a severe phenotype. The novel variants c.187_188del and c.1314_1314delA of F9 can cause severe Hemophilia B.

Background: Hemophilia A (HA) and hemophilia B (HB) are monogenic bleeding disorders caused by pathogenic variants in the F8 and F9 genes, respectively, which are located on the X chromosome and result in deficiencies of coagulation factor VIII (FVIII) and factor IX (FIX). The diseases predominantly affect males, while females are usually asymptomatic heterozygous carriers. Identification of female carriers among relatives of affected males is important for preventing bleeding complications associated with surgery and childbirth. Aim: The main aim of this study was to detect carrier and non-carrier women and compare some phenotypes. Materials and Methods: The study included 50 female relatives of 32 male patients diagnosed with hemophilia A and 13 female relatives of 8 male patients diagnosed with hemophilia B, giving a total of 63 female relatives. Molecular genetic testing was performed to identify the pathogenic variants previously detected in the probands and to determine the carrier status of female relatives. Among them, 33 confirmed carriers and 18 non-carriers completed a 28-item questionnaire comprising three sections to assess bleeding-related symptoms. The questionnaire evaluated easy bruising, duration of menstruation, postpartum bleeding, and bleeding following injuries, surgical procedures, and dental procedures. Questionnaire findings were compared between molecularly confirmed carriers and non-carriers. Continuous variables were compared using the Mann–Whitney U test, while categorical variables were analyzed using Fisher’s exact test in R software. In female relatives of patients with hemophilia A, plasma FVIII activity was also measured. Result: Molecular genetic testing was performed in 52 female relatives. Eleven women were excluded from carrier-status analysis because no pathogenic variant was identified in the F8 or F9 gene of their respective probands. Among 43 female relatives of patients with hemophilia A who underwent carrier testing, 26 (60.4%) were identified as carriers and 17 (39.5%) as non-carriers. Among eight male patients with hemophilia B, pathogenic F9 variants were identified in six; among their seven female relatives, six were confirmed carriers and one was a non-carrier. The mean FVIII activity among heterozygous HA carriers was 58.5±20.6 IU/dL (n=17), which was significantly lower than that of non-carriers (101±28.8 IU/dL; p<0.001). Of the nine bleeding-related symptoms assessed, only easy bruising of the skin was significantly more common among carriers (OR=6.8; p=0.0069). Although prolonged menstrual bleeding and bleeding after childbirth, surgery, or dental procedures were reported among some carriers, no statistically significant differences were observed between carriers and non-carriers. Conclusion Among female relatives of males diagnosed with Hemophilia A or B in Mongolia, 32 (64%) of 50 women were identified as carriers and 18 (36%) as non-carriers. Plasma FVIII activity was significantly lower in HA carriers than in non-carriers (58.5±20.6 IU/dL vs. 101±28.8 IU/dL; p<0.001). Easy bruising was significantly more frequent among carriers (OR=6.8; p=0.0069). These findings support the importance of molecular genetic testing for identifying female carriers and recognizing women who may be at increased risk of bleeding, particularly in the context of surgery and childbirth.

Background: Saliva as a non-invasive biological sample can be a game-changer in early disease detection and health risk assessment. Objective: To examine the association between participants' dietary patterns and the activity of salivary amylase, along with serum amylase levels in humans. Materials and methods: This study was conducted at the research laboratory of the Department of Biochemistry, School of Biomedicine, MNUMS. A total of 30 students aged 19–22 years participated in the study. Saliva samples were collected three times at one-week intervals, and one blood sample was collected from each participant, alongside a dietary questionnaire. The activity of the amylase enzyme in both saliva and serum samples was determined using the iodine-starch method. Results: When evaluating the amylase enzyme activity based on participants' carbohydrate intake, the result was p > 0.05, indicating no statistically significant difference. Similarly, statistical analysis of the use of mouthwash and vitamin supplements also showed p > 0.05, which means these variables had no statistically significant effect on amylase activity. The correlation between salivary and serum amylase activity was found to be r = 0.365, indicating a weak positive correlation, but the difference was not statistically significant. Conclusion The intake of carbohydrates, vitamins, and mouthwash does not significantly affect the activity level of the salivary amylase enzyme, according to research findings. However, external factors such as stress and air pollution have been shown to exert a measurable influence on its activity. A comparative analysis of enzyme levels in saliva and blood using amylase as a representative marker revealed similar activity levels in both fluids. This suggests that saliva may serve as a viable non invasive sample for detecting various biomarkers and diagnosing diseases. The results underscore the potential of salivary components, particularly amylase, as valuable indicators in diagnostic applications.

Background: Vulnerable populations at risk of micronutrient deficiencies include children and women, especially pregnant women, lactating mothers, infants and young children. According to WHO guidelines, a population with a micronutrient (vitamin and mineral) deficiency of more than 20% is considered a public health problem.
Although Mongolia has made significant progress in improving the nutritional status of the population, especially children and women, the 2024 VI survey found that micronutrient deficiencies are high among pregnant women.
The MMS (Multi-ingredient Micronutrient Supplement) distributed to pregnant women by soum and household health centers contains all the essential vitamins and minerals for pregnant women, but coverage has remained inadequate for more than 10 years. Goal: To establish the prevalence of micronutrients deficiency in pregnant women Materials and Methods: Totally 2796 pregnant women included in cross-sectional study from urban and rural area. Survey procedures consisted of interview, anthropometric measurements, clinical examinations, and the collection of biological (blood and urine) samples for pregnant women. Micronutrient deficiencies were assessed by tests for hemoglobin, serum, ferritin, soluble transferrin receptor (sTfR), 25-hydroxyvitamin D {25(ОН)D}, spot urine samples for determination of urinary iodine concentration. Statistical processing : The data from the survey questionnaires were entered into a database created in the “EpiData 3.1” software environment. The data created and verified in the EpiData software environment were converted to the “SPSS–25” program, and statistical analysis was also performed using the SPSS-25 program. The results table was prepared using Microsoft Word 2021 and Microsoft Excel 2021 programs. Research ethics: The research methodology was discussed at the meeting of the Medical Ethics Review Committee under the Ministry of Health on 2023.03.27 (23/017), and permission to conduct the study was obtained Result : The prevalence of anemia, as measured by hemoglobin, was 22.3% and the iron deficiency anemia (IDA), as measured by adjusted serum ferritin or soluble transferrin receptor (sTfR) was (39.8%/9.0%). Prevalence of iron deficiency as measured by serum ferritin was also highest in Western 41.9% and lowest in Khangai region 40.2% (P<0.01). The prevalence of vitamin D deficiency among pregnant women was high at 92.5%, and 7.5% of all pregnant women had adequate vitamin D status. The median concentration of 76.4µg/l indicates inadequate iodine status in pregnant women, as the desired range for adequate iodine nutrition in pregnancy 150-249 µg/l. Conclusions 1. 22.3 percent of pregnant women are anemic, and the prevalence of anemia has not decreased from 2017 levels and remains common.
2. The prevalence of iron deficiency (as measured by ferritin levels) was 39.8 μg/L and the soluble transferrin receptor level was 9.0 μg/L, which is higher than previous studies.
3. The prevalence of vitamin D deficiency among pregnant women remains common, with 76.6% having severe or moderate deficiency, and 15.9% having mild deficiency.

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.

BackgroundSchoolchildren spent most of time in school and the school environment is one of several settings thatcan influence children’s food choices and eating habits. Schools can ensure that the available food andbeverage options are healthy and help young people eat food that meets dietary recommendations forfruits, vegetables, whole grains, and nonfat or low-fat dairy products.GoalTo assess quality of common foods and diet in school environmentsObjectives:1. Define food items and groups in school environment;2. laboratory analysis in sample foods on “School lunch” and around school environmentMaterial and MethodsThirty public and private schools from six districts of city of UB were randomly selected from a list of allschools. Laboratory tests were analyzed total 250 samples from school canteens and within 250 metersdistances around sampled schools.ResultSchoolchildren are exposed to a wide range of unhealthy food and beverages in the school environmentand healthier food and drink’s choices are very limited in these settings. The high availability of differentvarieties of unhealthy food and drinks at affordable prices makes these products the most preferablechoices for children. Overall, 46.5 percent of schoolchildren were served in school canteen and 33.9percent of schoolchildren were served outside of schools including shops and buffet. Main factors of foodchoice were first, like eating (30.2%), food price (27.8%), hungry (16.7%) and food advertisement was6.3% among schoolchildren. Most of common foods (92.5%) were analyzed with high in salt, sugar andlow content of vitamins and minerals around school environment. There was very high sugar content per100 gram products for instance, “Batos” ice-cream 22.75 gr, “Iberry” ice cream 14.05 gr and, “Granat”juice 1364 gr. In addition, fat content is also high in schoolchildren’s common food consumption. Fatcontent tested 31.4gr in chips and 30.6 gr in pie, cake and 26.9 gr in biscuits per 100 gr products.