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: 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.

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.

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.

Purpose: Follow-up examinations in kidney donors is an essential yet necessary process in organ transplantation. In this study, we aimed to evaluate kidney function using biomarkers and biomarker based eGFR in kidney donors within 5 years of organ transplantation. Materials and method: 91 donors enrolled in our study. We measured body weight and blood and urine samples for laboratory tests. eGFR was calculated using 6 estimations. Result: The mean serum creatinine in participants was 0.81±0.22 mg/dL, cystatin C was 1.11±0.19 mg/dL, urea was 31.44±8.02 mg/L. Systolic hypertension in subjects was 130.0±16.5 mmHg while diastolic hypertension was 78.4±10.8 mmHg. In all donors, 15.9% (n=14) had hematuria, 23.6% (n=21) had proteinuria, 24.7% (n=19) had albuminuria. Body weight, creatinine, cystatin C and urea measurements had gradually increased over the years. The average eGFR was 72.9±17.9 to 112.8±34.0 ml/min/1.73m² showing 0.15%-35.22% before donation. Follow – up rate was 28.3-59.2% of total donors.Having health insurance and living far from Ulaanbaatar city influenced follow – up rate. Donor registration data should be updated regularly. Conclusion
1. Serum creatinine, cystatin C, urea was increasing in living kidney donors. Hypertension and microalbuminuria was greater than other donor study results.
2. eGFR decreased 0.15-35.22% in donor. CKD EPI combined equation was best for donor.
3. Health insurance and living far from Ulaanbaatar city were the influencing follow – up rate. Registration data is missing in 25.5%-82.4% of total donors suggesting enhancement in data collection.

Background: Kidney transplantation has being performed in Mongolia since 2006. However there is currently no published data available on long-term graft and patient survival. Objective: Our aim was to assess the long-term graft and patient survival rate correlation with HLA-A-B-DR matching. Methods: We retrospectively analyzed data from 70 adult kidney transplants performed at our hospital from August 2006 through January 2014. The data was retrospectively collected from patient files, including characteristics of the recipient and donor, post transplant features and HLA-A-B-DR DNA based typing results. The Kaplan-Meier method was used to analyze graft and patient survival. Results: The mean patient follow-up period after kidney transplantation was 39,6±25.9 months, and the mean kidney graft follow-up period was 36.6±23.7 months for 70 cases. Overall graft and patient survivals were 52 (74.3%) and 60 (85.7%) respectively in 70 cases. Five-year graft and patient survivals were 23 (67.6%) and 29 (85.3%) respectively in 34 cases. The group with four to six mismatched were found to have a significantly lower 3 and 5-year graft and patient survival (71%; 35%); (80%; 40%) compared to 0 to 1 mismatched group (100%) (p=.030; p=.015). Furthermore we analyzed the association of HLA matching, immunosuppressive therapy and long-term graft survival. We selected CNI mono-therapy group for long-term survival analysis and observed a similar pattern. In mono-therapy group, the group with four to six mismatched were found to have a significantly lower 3 and 5-year graft and patient survival (75%; 30%); (65%; 30%) compared to 0 to 1 mismatched group (100%) (p=.037; p=.001). Conclusion The results showed that graft and patient survival rates were lower compared with results from established centers. Statistically highly significant effect of HLA matching on kidney graft and patient survival rates was found in our analysis. Five years after transplantation the graft survival rate of first adult kidney transplant with 4-6MM was 65-70% lower than that of grafts with 0-1MM. Longitudinal cohort study needed in the future to exhibit an improved transplantation outcome.

Background: However kidney transplantation has being performed in Mongolia since 2006, because of pre-transplant sensitization, ABO incompatibility, hepatitis B and C virus activation many patients are taken kidney transplantation in abroad. The transplantation centers use own immunosuppressive regimens. Objective: Our aim was to assess the immunosuppressive regimens efficacy and toxicity in kidney transplant Mongolian recipients. Methods: We analyzed data from 96 adult kidney transplant recipients who had taken kidney transplantation in different transplant centers from August 2006 through January 2014. There were 3 kinds of regimens Group I Simulect induction with standard triple /FK506/CyA+MMF/AZA+steroid/, Group II Campath-1H induction with CNI monotherapy and Group III Campath-1H induction with standard triple /FK506/CyA+MMF/AZA+steroid/. We retrospectively collected the post-transplant first two years serum creatinine. The study was performed in 2014. The questionnaire was taken and blood samples collected for determination of tacrolimus through level and for other laboratory tests. The primary end point was the first two years serum creatinine, the secondary end points included rejection episodes, blood through level of tacrolimus and some laboratory findings. Results: The post-transplant first two years serum creatinine levels were significantly different in 3 groups. Group III showed similar results compared to Group I. There was not enough data of biopsy proven acute rejection episodes however group II said more rejections occurred. However participants said that rejection occurred in 15 (15.6%) biopsy was done only 3 (3.1%) cases. Blood through level of tacrolimus was significantly different in three groups. Some laboratory findings showed different between three groups. Conclusions A regimen of Campath-1H induction with CNI monotherapy (Group II) may be advantageous for short-term renal function and cost effective but there were more rejection complications and increased creatinine. The regimen of Campath-1H induction 11 with standard triple (Group III) may be advantageous for long-term renal function, allograft survival, but there should consider about infection complications and polycythemia. Simulect induction with standard triple could be best choice but transplantations were performed in experienced centers. The study enrolled few cases and cases which were performed at the beginning of transplant program so many things could influence on the result. The study was compared beginner transplant center with experienced centers. Longitudinal cohort study needed in the future.