Background: Mongolia, as a country with a high burden of liver disease caused by viral infections, has prioritized reducing the spread of viral hepatitis and sexually transmitted infections (STIs) in line with the WHO strategy for 2022–2030. Orders A/133 (2023) and A/18 (2024) issued by the Ministry of Health mandate that healthcare providers initiate screening of hospitalized patients for hepatitis B and C viruses, syphilis, and HIV infection. Among infectious diseases registered in Mongolia, STIs rank among the leading causes, with more than 40% of reported cases being newly diagnosed syphilis. Hepatitis C virus (HCV) infection and syphilis are transmitted via the parenteral route, can lead to chronic disease, and co-infection represents a serious condition that accelerates liver damage and negatively affects treatment outcomes. Syphilis infection places additional stress on liver function and exacerbates HCV-related inflammation. Aim: This study aimed to investigate how syphilis co-infection affects the biochemical and clinical course of acute hepatitis C virus infection. Materials and Methods: A retrospective, hospital-based cross-sectional study design was used. A total of 74 patients diagnosed with acute hepatitis C virus infection and treated at the National Center for Communicable Diseases between 2025 and 2026 were randomly selected. Data were collected from medical records. Patients were divided into two groups based on syphilis serology results: HCV mono-infection and HCV with syphilis co-infection. Differences between variables in the two groups were analyzed using the T-test, with statistical analysis performed using SPSS version 26. A p-value <0.05 was considered statistically significant. Results: Of the study participants, 17 (23%) had syphilis co-infection. There were no statistically significant differences in age and sex between the groups (p=0.982). In the co-infected group, 23.5% had high RPR titers (indicative of active/new infection). Clinically, general signs of infection and intoxication (35.3%), fatigue (100%), dyspeptic syndrome (100%), and intoxication syndrome (100%) were predominant. Biochemical analysis showed significantly higher levels in the co-infected group compared to the mono-infected group: total bilirubin (192.4 vs 110.5 μmol/L, p<0.01), alkaline phosphatase (245.8 vs 132.1 U/L, p=0.004), and ALT (1240.5 vs 850.2 U/L, p=0.03). Kaplan–Meier analysis demonstrated that the mean time for ALT normalization was longer in the co-infected group (26.4 days) compared to the mono-infected group (20.7 days) (p=0.006), indicating prolonged recovery. Conclusion Syphilis co-infection worsens the clinical course of acute hepatitis C, deepens jaundice and cholestatic syndrome, and prolongs the normalization of biochemical parameters.

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: 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: TED (thyroid eye disease) is an inflammatory disease of the orbit caused by autoimmune diseases of the thyroid, which adversely affect the vision, appearance, and quality of life. Exophthalmos and eyelid retraction are the main features of TED, which can lead to ocular motility, diplopia, optic neuropathy, and permanent vision loss. The study aims to determine the most common clinical signs of TED in Mongolians and define whether there is a correlation with the levels of thyroid autoantibodies. Methods: The study involved 102 patients with TED and 81 patients with Graves’ ophthalmopathy. The clinical features of TED were identified and evaluated by activity score (CAS) and severity of GO using the European Group of Graves’ Orbitopathy (EUGOGO). Results: The mean age of TED patients was 42.6±11.2, which was younger than GD patients (P=0.012). The current smoker was 24 patients (23.5%) with TED, which is relatively higher than GD (P=0.0001). The most common ocular signs were eyelid retraction 80 (78.4%), proptosis 77 (75.5%), diplopia 14 (13.7%) and 4% vision loss. There were no differences in proptosis between the right (18 mm, median) and left eye (17.8 mm, median) (P>0.05). The mean CAS score was 3.09±1.72 and varied depending on gender and smoking. According to EUGOGO, 62.7% of the patients were moderately severe. Only 7 % of the patients were in the sight-threatening stage, presenting optic neuropathy and corneal breakdown. The mean TSI level in patients with TED was 37.95 ± 35.41 IU / ml, which was 2.7 times higher than the mean in patients with GD. Conclusions Eyelid retraction and exophthalmos are the most common clinical signs of TED. Early diagnosis of these features can prevent complications of the disease. Determining serum TSI levels will help in the treatment and monitoring of TED.

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.

Background: Stroke is one of the leading causes of mortality and disability worldwide. Understanding sex differences in risk factors, clinical characteristics and death after stroke might provide valuable evidence for prevention and management of stroke. Aim: We aimed to describe sex differences in risk factors, clinical characteristics and death after intracerebral hemorrhage (ICH) and ischemic stroke (IS) using hospital-based registry in 6 districts of Ulaanbaatar, Mongolia. Materials and methods: We used hospital-based stroke registry in Ulaanbaatar Mongolia. From 2019 to 2020, total of 974 patients with acute ICH and 1612 patients with acute IS were enrolled in this study. The severity of stroke was measured by National Institutes of Health Stroke Scale (NIHSS) and Glasgow Coma Scale (GCS). Risk factors for stroke were defined as patient’s history and their medical record. Death after stroke was registered at 28 days and 90 days by follow-up study. A comparison of categorical and continuous variables was analyzed using chi-squared test, Student’s t-test and Mann Whitney U test. Univariable and multivariable logistic regression analyses were also performed. Results: The mean age of ICH patients was 58.41±11.56. There was significant difference in age (59 vs 57, p=0.009) between women and men. Men with ICH were more likely to drink alcohol (35.4% vs 5.2%, p=0.000) and to smoke (37.0% vs 8.4%, p=0.000) and to have arterial hypertension (72.7% vs 58.6%, p=0.000). However, there were no significant differences in other risk factors including atrial fibrillation, diabetes mellitus, prior stroke and other cardiac diseases. There were no sex differences in clinical characteristics including systole and diastole blood pressure, NIHSS scores and GCS. In our study, case fatality rate was 23.8% at 28 days and 1.9% at 90 days after ICH. By multivariable regression analyses, there were no significant association between sex and death at 28 days and at 90 days (OR:0.74; 95% CI:0.52-1.06, OR: 0.80; 95% CI:0.29-2.21).
The mean age of IS patients was 61.07±12.88. The women were older (63 vs 59, p=0.000) than men. Men with IS also were more likely to be current smokers (37.6% vs 9.0%, p=0.000), current drinkers (33.2% vs 3.4%, p=0.000) and to have arterial hypertension (74.7% vs 65.9%, p=0.000). There were no significant differences in other risk factors. For IS patients, there also was no sex difference in clinical characteristics. Case fatality rate was 13.3% at 28 days and 1.1% at 90 days after IS. By multivariable regression analyses, there were no significant association between sex and death at 28 days and at 90 days (OR:0.90; 95%CI: 0.64-1.26, OR:5.16; 95%CI: 0.99-23.9). Conclusion Our study showed sex differences in some vascular factors of both stroke subtypes which emphasized that we need to implement stroke prevention targeting sex-specific risk factors. While clinical characteristics and early mortality of intracerebral hemorrhage and ischemic stroke were not differed by gender.

Background: Globally the incidence of stroke is not decreasing, and the deaths and disabilities caused by stroke is increasing every year, especially in low and low-middle income countries.
Long-term trends in stroke incidence in different populations have not been well characterized, largely as a result of the complexities associated with population-based stroke surveillance.
Having reliable data on stroke morbidity and mortality, as well as periodic identification of long-term trends will be important information for proper prevention planning in the population, monitoring the disease and further improving the quality of health care. Material and Method: A prospective cohort study has been conducted in adult citizens (972409 in 2019, 925367 in 2020) of 6 districts of Ulaanbaatar from the 1st of January, 2019 to 31st of December, 2020. All first-ever and recurrent stroke cases were included using special software, developed for stroke registry, based on the WHO STEPS approach from participating radiology departments of state hospitals, district hospitals, and some private hospitals. Information of stroke death was obtained from forensic institute and state registration office of the capital city.
The trends of stroke incidence and mortality was compared to data between 1998-1999 and 2019- 2020 in UB. Results: The age-standardized crude incidence rate per 100.000 person-years of stroke were 209.0/100.000 (n=1934) in 2019 and 194.0/100.000 (n=1821) in 2020 among adults of UB city. The above results were compared to 1998-1999 studies and the incidence rate declined by 94.0/100.000 in 2019-2020, whereas mortality rate increased by 10.0/100.000 in women aged 16-34. Stroke mortality was 11.6% in 1998 and 26.5% in 1999, while in our study it was 33.87% in 2019 and 29.71% in 2020. Although the incidence of stroke rates has decreased in 1998-1999, the mortality rate has not decreased significantly. Conclusion Morbidity and mortality rates among the population of Ulaanbaatar citizen remain highest in the world, compared to 20 years ago with overall morbidity declining but mortality has not decreased.
In recent years, the Government of Mongolia has been focused on reducing non-communicable diseases, but the primary and secondary prevention and control of stroke in the general population, as well as the acquisition of knowledge attitudes, practices and access to health care still need to be improved.

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.

Background: Stroke is still one of the leading causes of morbidity and mortality worldwide. Registry-based data of stroke are scarce in low and middle-income countries such as Mongolia. We aimed to investigate the incidence and mortality of stroke in adult population of UB Mongolia by stroke registration method. Material and Method: Covering 611265 (≥15 years old) adult citizens of three districts of Ulaanbaatar, a population-based prospective study was done from the first, January of 2019 to 31st, December of 2019. All first-ever and recurrent stroke cases were included using special software, developed for stroke registry, based on the WHO STEPS approach from participating radiology departments of state hospitals, district hospitals, and family clinics. Information of stroke death was obtained from forensic institute and state registration office of the capital city. Results : In a 1-year study period, 1068 (women 39.1%) stroke cases were registered in people with 60.16±13.66 years old. Stroke incidence rate was 169.81/100000 including first-ever and recurrent events. Stroke incidence rate was higher in men and people with 80 and above years old. The ratio between IS and ICH was 1.14:1.0. Stroke mortality was 27.1% and mortality rate was 45.94/100000. The highest rate mortality was in ICH subtype, male population and older people. Conclusion We identified relatively high incidence and mortality rate of stroke in ICH indicating an urgent need for improvement of arterial hypertension control, health education and primary prevention mainly among men.