Background: Congenital syphilis is a serious infection transmitted from an infected mother to the fetus during pregnancy, potentially leading to adverse outcomes such as miscarriage, stillbirth, preterm birth, or neonatal death. The global COVID-19 pandemic and associated lockdown measures have posed significant challenges not only to individuals but also to national socio-economic systems, adversely affecting the quality and accessibility of healthcare services. Aim: This study aimed to compare the incidence of congenital syphilis in Mongolia during the pre-COVID-19 period (2016–2020) and the post-COVID-19 period (2021–2025). Materials and Methods: A cross-sectional study design was employed. Data from all 361 registered cases of congenital syphilis between 2016 and 2025 were included in the analysis. Results: The incidence of congenital syphilis per 100,000 live births decreased from 65.8 in 2016–2020 to 34.5 in 2021–2025, representing a 47.6% reduction (RR=0.52, 95% CI: 0.42–0.66, p<0.001). Overall, 67% of cases were concentrated in Ulaanbaatar. The proportion of cases among mothers aged 15–19 years increased from 11.5% to 21.3%, and the majority of mothers had completed secondary education. Conclusion Although the incidence of congenital syphilis declined significantly following the COVID-19 pandemic, 13.0% of pregnant women receiving antenatal care did not undergo serological testing. This underscores the need to strengthen surveillance and reporting systems and to implement continuous education and awareness programs, particularly targeting young women and mothers.

Background: Congenital syphilis is an infection caused by transplacental transmission of Treponema pallidum from mother to fetus and remains a significant cause of neonatal morbidity and mortality worldwide. Clinically, it is a multisystem disease with manifestations resembling those of TORCH infections and may also occur as a co-infection with these pathogens. Case Presentation: We report a case of a 28-year-old woman with a prior history of syphilis who had been treated and followed up, presenting with preterm delivery at 31–32 weeks of gestation during her third pregnancy. The neonate subsequently died due to complications associated with a concomitant perinatal infection. Conclusion Early screening during pregnancy, appropriate follow-up, identification of reinfection, and timely treatment remain key strategies for reducing the burden of congenital syphilis.

Background: Milk and dairy products are important sources of protein, vitamins (B2, B12), and minerals (calcium, zinc), playing a key role in maintaining normal body weight, bone structure, and overall health. However, in Mongolia, regular milk consumption among school-aged children is inadequate, and scientific evidence on its association with growth, micronutrient status, and bone health is limited. Objective : To determine the relationship between weekly milk consumption and children’s physical growth, bone softening, and serum levels of vitamin D and selected minerals. Material and Methods: A cross-sectional study was conducted in December 2024 among 453 students aged 7–12 years from six general education schools in Ulaanbaatar. Participants were classified into three groups based on weekly milk consumption: (1) non-consumers, (2) consumers at school or home, and (3) consumers at both school and home. Anthropometric measurements were obtained, and BMI z-scores were calculated using WHO growth reference standards. Blood samples were analyzed for vitamin D, calcium, magnesium, and zinc, and bone mineral density was measured. Data were analyzed using SPSS 26, applying independent t-tests, chi-square tests, and ANOVA, with p<0.05 considered statistically significant. Results: Children consuming milk regularly at both school and home had higher mean height (139 ± 8 cm) compared to non-consumers (136 ± 17 cm), though differences were not statistically significant (p=0.33). BMI was more often in the normal range among dual-site consumers (56.4%) compared to non-consumers (43.4%) (p<0.05). Vitamin D deficiency was less prevalent among dual-site consumers (47%) than in other groups (p<0.05). Magnesium (0.86±0.07 mmol/L) and zinc (18.74±2.48 μmol/L) levels were significantly higher in this group (p<0.05). Bone softening prevalence was lower among dual-site consumers (47.8%) compared to non-consumers (58.3%) (p=0.026). No significant associations were found between milk consumption and red blood cell indices. Conclusion Regular milk consumption is associated with improved BMI status, higher serum magnesium and zinc levels, and lower prevalence of bone softening among school-aged children in Ulaanbaatar. These findings support the potential role of school milk programs in enhancing child nutrition and bone health in Mongolia.

Background: Organ transplantation has been rapidly advancing in Mongolia in recent years. The number of successful kidney, liver, and bone marrow transplants performed in national central hospitals has been increasing annually. While the number of successful kidney transplants is increasing, post-transplant immune monitoring remains insufficiently studied. Aim: To assess post-transplant immune status by analyzing inflammatory cytokine levels in kidney transplant recipients Materials and Methods: A prospective cohort study was conducted at the First Central Hospital of Mongolia. Serum samples from kidney transplant recipients were analyzed using flow cytometry to measure the levels of 13 inflammatory cytokines, including TGF-β1, PAI-1, sTREM-1, PTX3, sCD40L, sCD25 (IL-2Ra), CXCL12 (SDF-1), sST2, sTNF-RI, sTNF-RII, sRAGE, CX3CL1 (Fractalkine), and sCD130 (gp130). Statistical analysis was performed to assess the results. Results: The mean creatinine level significantly decreased on post-transplant days 7 and 30 compared to pre-transplant levels (p<0.001, ANOVA). No statistically significant difference was found in the 13 cytokine levels between the high risk and low-risk groups based on creatinine levels on post-transplant day 30 (p>0.05). However, the levels of TGF-β1, CX3CL1, sTREM-1, and sTNF-RI showed statistically significant differences between post-transplant days 7 and 30 (p<0.05). No significant correlation was found between the measured cytokine levels and CRP (p > 0.05). On post-transplant day 7, sTREM-1 had a weak correlation with TGF-β1 (r=0.40, p=0.02) and sTNF-RI (r=0.36, p=0.05) but showed a strong correlation with CX3CL1 (r=0.65, p=0.0001). On post-transplant day 30, sTREM-1 remained strongly correlated with CX3CL1 (r=0.73, p=0.0001) and moderately correlated with sTNF-RI and TGF-β1 (r=0.45, p=0.01). Conclusions 1. The levels of TGF-β1, CX3CL1, sTREM-1, and sTNF-RI significantly varied between post-transplant days 7 and 30 (p< 0.05, T-test). 2. On post-transplant day 30, these cytokines were not correlated with CRP but were interrelated among themselves.

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.

Backround: Urolithiasis has been increasing in Mongolia recent years. The prevalence of urolithiasis is different in the countries of the world, and it was 7.54% in China, 8.8% in North America, and 5-10% in Europe as of 2011. In recent years, the prevalence of stones in western European countries is 5-14%, in Canada 12%, in Britain 7-15%. It is a common disease in most parts of the world, but it is rare in countries such as Greenland and Japan. When studying the recurrence of kidney stones, 10-23% after 1 year, 50% after 5-10 years, and 75% after 20 years were studied. In our country, there is an urgent need to study the prevalence and risk factors related to the increasing incidence of urolithiasis. Materials and Methods: We analyzed 35819 cases of urolithiasis diagnosed between 2011 and 2022, and the incidence per 10000 population. In 2020 years, 3625 cases of urolithiasis were reported, and 371 people were included in the study, assuming that a minimum of 360 healthy participants were needed to estimate at a 95% confidence level, an estimated 1% diagnosis. Also, 456 cases with stones were included in the study and statistical processing was done using SPSS 21 software. Results: The average age of the participants was 46.3 ± 17.6, and 19,356 (54.04%) were female. Since 2011, the total incidence of kidney stones has been distributed as a quadratic function and has been increasing annually. In Mongolia, the incidence rate of urolithiasis increased from 4.6 per 10000 population in 2011 to 17.96 in 2022 a 3.9-fold increase from 10 years ago. However, the new cases per 10000 population tripled from 3.72 in 2011 to 11.36 in 2022. Considering future prospects, it will increase to 19.4 per 10,000 population in 2023, 21.7 in 2024, 24.3 in 2025, 27.1 in 2026, and 30 in 2027. Compared to 2017, 10 years ago, it will increase by 3.6 times by 2027(Yt=6.145-1.735 х t+0.18 x t2). According to the correlation of risk factors for stone formation, people living in urban areas (mOR 14.5) have a higher risk of stone formation than people living in rural areas (mOR 1.21) (p 0.0001). When examining stone structure, 64.6% of all cases studied had calcium oxalate stones. Conclusion The incidence of urolithiasis is increasing every year and will continue to increase. People living in cities have a higher risk factor for stone formation.

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.

Introduction: Polycythemia vera (PV) is Philadelphia chromose (Ph)-negative and chronic myeloproliferative disorder (MPN). Moreover, 0.01-2.6 incidences are diagnosed for every 100,000 population. In Polycythemia vera, guanine on 1849th base of 14th ex-one of 9th hromosome is replaced by thymidine and homozygous state is developed. As a result, valine on 617 of JH2 domain in JAK2 is replaced by fenylalanine and activation of tyrosine kinase is increased. Then, signal pathways such as JAK-STAT, PI3K/Akt and ERK1 are independently activated. The JAK2 V617F mutation is identified in approximately 95% of total polycythemia vera diagnosed cases. Furthermore, the average age group of patients with polycythemia vera is 61 and 10% of them are aged under 40 years and male:female ratio is 1:1.
In accordance with World Health Organization criteria of 2016: If three major criterias or first two criteria plus one minor criteria are identified, Polycythemia vera is diagnosed.
Although life expectancy rate of PV cases in follow-up is high, is lower in comparison with the general same age group of population and essential thrombocythemia (ET). In accordance with an international and large study (n=1545), the average life expectancy rate was 14.1 years among Polycythemia Vera diagnosed patients. More than half of mortality related to the disorder (53%) was caused by unknown etiology. On the other hand, (36\347, 10.3%), (36\347, 10.3%), (32\347, 9.2%) and (13\347, 3.7%) of the remaining mortality cases were caused by acute leukemia, secondary malignancy, thrombotic complications and cardiac failure, respectively. Objective: We aimed to determine JAK2 V617F gene mutation on patients with suspected polycythemia vera and evaluate the CBC/complete blood count/ parameters and clinical signs. Material and method: The cross sectional study was conducted during 8/Mar/2022 ad 20/May/2022 and 13 individuals with suspected polycythemia vera who received outpatient service at hematology department of State First Central hospital (SFCH) and Mongolia-Japan hospital of MNUMS were included. Ethical approval was received by order (№2022/3-02) of 28/Feb/2022 and research ethics review committee. Each and every participant received informed consents and agreed to participate in the study. The current study was conducted with the support of integrated laboratory of Clinical pathology of State First central hospital. Result Total of 13 participants were included in the study, 38.4% (n=5) and 61.5% (n=8) of them were male and females, respectively. The mean age group was 58.69±7.7 years. The JAK2 V617F mutation was detected in 92.3% (12/13) of patients. The average age group was 57.8 (52-68) for males and 58.6 (43-71) for females. Complete blood count parameters of males with the JAK2 V617F mutation are shown.
By questionnaire, some of clinical signs such as fatigue, pruritus after bath, headache, dizziness, bone and muscle pain, hands and feet peripheral cyanosis, numbness and nocturnal sweating were detected on patient with positive mutation.

Introduction: Health care workers of First Central Hospital of Mongolia have vaccinated with three different vaccines against SARS-CoV-2. We detected SARS-CoV-2 N and S-RBD antibodies after 30-90 days of second dose of vaccination. Method: Quantitation of antibodies to the spike protein of SARS-CoV-2 was performed for the detection of adaptive immune response in 291 HCWs vaccinated with Covishield, Sinopharm and Pfizer Biontech. Detection and quantitation of SARS-CoV-2 N and S antibodies were performed by the electrochemiluminesce assay Cobas e411, Roche. Result: SARS-CoV-2-S-RBD IgG titer were negative 0%, weak positive 0.4%, positive 17.5%, strong positive 82.1% of 246 HCWs vaccinated with Covishield and were negative 2.8%, weak positive 8.5%, positive 57.1%, strong positive 31.4% of 35 HCWs vaccinated with Sinopharm.
In all HCWs vaccinated with Pfizer Biontech SARS-CoV-2-S-RBD IgG titers were strong positive. Conclusion Humoral immunity was produced in HCWs after two doses of Covishield vaccine 100%, Sinopharm 97.0%, Pfizer Biontech 100% respectively. Antibody titer was higher among younger age workers.

Introduction: The Severe Acute Respiratory Syndrome coronavirus-2 has a major impact in solid organ transplant recipients and the effect of established mRNA based SARS-CoV-2 vaccines have to be evaluated for solid organ transplant patients (SOT) since they are known to have poor responses after vaccination. Method: We investigated the SARSCoV-2 immune response via SARS-CoV-2 S IgG detection in the serum of 17 renal transplant recipients and 11 liver transplant recipients after two doses of the mRNA based SARS-CoV-2 vaccine BNT162b2 following the standart protocol. Result: The median age was 52.5±12 years. Nineteen (67.8%) of the 28 patients were male, and 9 (32.2%) were female. The mean time after organ transplantation was 6.3±5 years (5 months-16 years). The immunosuppressive regimen included mycophenolate (19 of 28; 67.8%), tacrolimus (27 of 28; 96.4%), and corticosteroids (15 of 28; 53.6%).
The antibody response was evaluated once with an anti- SARS-CoV-2-S IgG CLIA (Elecsys Roche, Germany) 30±2 days after the second dose. Only 19 of 28 (67.8%) SOTRs were tested positive for SARS-CoV-2-S IgG after the second dose of vaccine and median titer was 119.5±106.4 Н/мл. Conclusion Thus, the humoral response of SOTRs after two doses of the mRNA based SARS-CoV-2 vaccine BNT162b2 is impaired. Individual vaccination strategies and third dose of vaccine might be beneficial in these vulnerable patients.