Background: Hearing loss (HL) is one of the most common sensory disorders, affecting over 5-8% of the world's population. Approximately half of HL cases are attributed to genetic factors. In hereditary deafness, about 75-80% is inherited through autosomal recessive inheritance, and common pathogenic genes include GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646). DFNB4 is characterized by sensorineural hearing loss combined with EVA or less common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to thyroid goiter. Currently, it is known that EVA is associated with variants in the SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G in Han Taiwanese and Han Chinese. On the other hand, there has been no study of hearing loss related to SLC26A4 gene variants among Mongolians, which is the basis of our research. Aim: We aimed to identify the characteristics of the SLC26A4 gene variants in Mongolian people with Enlarged vestibular aqueduct and Mondini malformation. Materials and Methods: In 2022-2024, We included 13 people with hearing loss and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National Taiwan University Hospital. Results: Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19% (5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8% (2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C (p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4: c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing loss. Conclusions 1. 26 variants of bi-allelic SLC26A4 gene mutation were detected in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A (p.V239D) were detected. 2. Our study shows that whole-exome sequencing (WES) can identify gene mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.

Backround Peutz–Jeghers (PJ) syndrome is a rare autosomal dominant disorder characterized by a mucocutaneous pigmentationon on oral mucosa and multiple hamartomatous polyps located in the digestive tract except esophagus. PJ syndrome can be diagnosed in early childhood by a characteristic pigmentation and family history of polyposis. However, it is often diagnosed first as a polyp in the small intestine that causes obstruction and intussusception and is often treated with a bowel resection. If diagnosed in young childhood, an effective non-invasive method is to resect the polyps by tying off the blood supply to the polyps, that is the method named ischemic polypectomy, before they grow to the point of obstruction using a endoscopy. PJ syndrome is rare in Mongolia, but in severe cases, small intestine polyps are treated only surgically. Double-balloon-endoscopy (DBE) has been performed at the Mongolian- Japanese Hospital since 2023, making it possible to diagnose and treat the syndrome endoscopically. Our patient, a 15-year-old boy, had a mucocutaneous pigmentation that had been previously undiagnosed and was first diagnosed with intussusception at the age of 13. He had undergone 4 endoscopic procedures for upper and lower gastrointestinal polyps at the National Center for Maternal and Child Health successfully. In our hospital, we found endoscopically multiple hamartomatous polyps of various sizes between 1-3 cm, and a 3 mm diameter tumor that filled 3/4 of the intestinal lumen was treated by ischemic polypectomy. After the procedure, there were no early or late complications related to the procedure. The child's condition improved, the main complaints subsided, and he continues his daily life normally. However, follow-up DBE is required.

Background: Asthma management should be individualized, evidence-based, aimed at controlling clinical symptoms, preventing severe exacerbations, and improving quality of life. Studies have shown that inhalation therapy with iodine- bromide saltwater improves lung function in chronic obstructive pulmonary disease (COPD), while radon-containing mineral water inhalation reduces inflammation and oxidative stress in asthma. Several studies have analyzed the composition of the Shargaljuut hot spring, with Oyuntsesteg et al. identifying high levels of Na+-HCO3 - and Na+-SO4. Other studies on mineral water therapies have reported benefits such as thinning bronchial secretions, improving sputum clearance, reducing inflammation and acidity, mitigating oxidative stress, and enhancing quality of life. Aim: To study the effectiveness of combined asthma treatment with inhaled corticosteroids and hot spring inhalation. Materials and Methods: The study included 67 participants diagnosed with asthma who consented to participate and underwent 10 days of combined inhaled corticosteroid therapy and mineral water inhalation at Shargaljuut sanatorium. A total of 57 participants completed the pre- and post-treatment assessments. Treatment result was assessed using Asthma control questionnaire 7, asthma symptom control with Asthma Control Test (ACT), and exercise tolerance by a 6-minute walk test. Chest X-rays were taken for all participants to rule out pneumonia, cancer, or pulmonary fibrosis. Treatment outcomes were evaluated using ACT scores, peripheral blood eosinophil count, total IgE levels in serum, spirometry indices (FEV1, FVC, FEV1/FVC), and the 6-minute walk distance. Results: The average age of participants was 52±12 years, with a predominance of females. The mean asthma control score was 14.2±4.80, indicating poor asthma control. After 10 days of inhaling corticosteroids combined with hot spring inhalation post-treatment quality of life increased by 0.5 points, FEV1 improved by 7.5%, FVC by 4.2%, peripheral blood eosinophil count decreased by 0.3%, and total Ig E levels dropped from 73.3 (22.5; 216) to 73.2 (21.3; 223) u/ml (p=0.000). Conclusion In cases of uncontrolled asthma remission, combining of inhaled corticosteroid therapy with hot spring inhalation at Shargaljuut improved asthma symptoms, quality of life, enhanced lung function, and reduced inflammatory markers (p<0.001).

Background: Membranous nephropathy (MN) is among the most common causes of nephrotic syndrome in adults. MN is diagnosed in one third of cases of nephrotic syndrome on kidney biopsy. Kidney biopsy is the gold standard for diagnosing MN and plays an important role in determining the severity of the disease and in determining treatment decisions and regimens. Therefore, the lack of research on kidney biopsy in Mongolia is the reason for this study. Aim: The aim of this study was to investigate the pathological features in the kidney tissues of patients with primary membranous nephropathy diagnosed by kidney biopsy. Materials and Methods: A retrospective study was conducted on 51 cases of MN diagnosed in kidney biopsies performed at the First Central Hospital of Mongolia (FCHM) over a period of 12 years. Renal function was calculated using the CKD-EPI (2021) formula and classified into the stage of CKD by eGFR. Histopathological findings were examined using 4 light microscopy (LM) stains (Hematoxylin-Eosin, Masson-Trichrome, PAS, and Methenamine silver staining) and 8 immunofluorescence (IF) microscopy stains (IgG, A, M, complement C3, C4, C1q, and kappa, lambda). The study excluded secondary MN based on viral markers, tumor markers, and serological tests. Statistical analysis was performed using SPSS and STATA 15.0 software, using t-tests, Pearson’s chi-square tests, and multiple group comparisons were performed using ANOVA and Kruskal-Wallis methods. The study design was approved by the Ethics Committee of the MNUMS, Mongolia. (№ 2023/3-07) Results: A total of 305 kidney biopsies performed at the Kidney Center of the FCHM between 2011 and 2023 resulted in the diagnosis of 51 cases of primary MN. The mean age of patients with membranous nephropathy was 40.6±9.3 years, with the oldest age of 65 and the youngest of 22 years, and 36 (70.59%) were male and 15 (29.41%) were female. In the kidney biopsy, the average number of glomeruli was 16.51±7.82 (min-max, 3-54), and by LM, 33.3% showed global sclerosis of glomeruli by hematoxylin-eosin staining, 94.12% showed thickening of the glomerular basement membrane (GBM), 31.2% showed double counter staining of subepithelial immune complexes by methenamine-silver staining, 88.24% showed holes in the GBM, and 54.9% showed spike-like changes by Masson-Trichrome staining. IF showed IgG 3+ in 37.3%, 2+ in 39.2%, 1+ in 13.7%, and trace staining in 9.8%, while 74.5% of the cases were positive for C3, 93.1% for kappa, and 79.5% for lambda. LM showed thickening of the GBM (OR 23.5, 95% CI 0.093-0.53, p value= 0.007) and interstitial fibrosis (95% CI 6.98-31.07, p value= 0.003) contributing to the decrease in eGFR. The mean time from the onset of the first symptoms of kidney disease to the time of kidney biopsy was 35.35±61.54 months. Patients who underwent biopsy later (in months) after the diagnosis of the disease had a higher incidence of interstitial fibrosis (74.6 ± 98.43, 95% CI -90.52-20.68, p value = 0.002). Conclusion The histopathological features of MN confirmed by kidney biopsy showed thickening of the GBM in 94.12%, global sclerosis in 33.3%, and holes in 88.2%. Immunofluorescence microscopy showed 100% IgG staining, while C3, kappa, and lambda were positive in 74.5%, 93.1%, and 79.5%, respectively.

Background: The continuous annual increase in the prevalence of diabetes mellitus (DM) poses significant challenges not only within our nation but also globally in the control and management of tuberculosis. Aim: This study aimed to determine the incidence of pulmonary tuberculosis among individuals with type 2 diabetes mellitus (T2DM) residing in six central districts of Ulaanbaatar and to investigate associated factors. Materials and Methods: A cross-sectional study design was employed. Participants aged 18 years and older diagnosed with T2DM and receiving care at endocrinology clinics in six central districts of Ulaanbaatar were selected using systematic random sampling. Presumptive TB cases were identified through a structured questionnaire and chest X-ray. Sputum specimens were collected and subjected to smear microscopy and Xpert MTB/RIF assay for tuberculosis detection. Cases confirmed by laboratory diagnosis, currently undergoing tuberculosis treatment and previously treated cases as per questionnaire data were classified as tuberculosis cases, and prevalence was calculated. Results: A total of 1,644 individuals with T2DM were enrolled in the study, of whom 836 (50.9%) were female, with a mean age of 58 years (range 19–89). The overall prevalence of presumptive TB cases was 10.5% (n=172; 95% CI, 9.0–12.0). Among 112 suspected cases from whom sputum samples were obtained, 10 (8.9%; 95% CI, 4.9–15.7) were laboratory-confirmed for M.tuberculosis. Notably, 7.2% (6 cases; 95% CI, 3.4–14.9) of asymptomatic individuals with abnormal X-ray findings were diagnosed with tuberculosis. According to questionnaire responses, 9 participants (0.5%; 95% CI, 0.3–1.0) were undergoing tuberculosis treatment, and 53 (3.2%; 95% CI, 2.5–4.2) reported a previously treated TB cases. The overall prevalence of tuberculosis among individuals with diabetes was 4.4% (n=72; 95% CI, 3.5–5.5). Stratification by age and sex revealed a significantly higher prevalence among males (5.9%; n=48; 95% CI, 4.5–7.8) compared to females (2.9%; 95% CI, 1.2–4.2) (p=0.002), indicating a twofold increased risk of tuberculosis in males. Although no statistically significant differences in tuberculosis prevalence were observed across age groups (p>0.05), a declining trend in prevalence with older age was noted. Conclusion The prevalence of tuberculosis among individuals with type 2 diabetes was 4.4% (n=72; 95% CI, 3.5–5.5), with a significantly higher rate in males (p=0.002) and a decreasing trend with increasing age. Among asymptomatic individuals exhibiting radiographic abnormalities, 7.2% were confirmed to have tuberculosis via laboratory testing

Introduction : Noncommunicable diseases (NCDs) caused at least 43 million deaths in 2021, equivalent to 75% of non-pandemic-related deaths globally. Cardiovascular diseases account for most NCD deaths, or at least 19 million deaths in 2021, followed by cancers (10 million), chronic respiratory diseases (4 million), and diabetes (over 2 million including kidney disease deaths caused by diabetes). These four groups of diseases account for 80% of all premature NCD deaths. According to the Fourth National Survey on the Prevalence of Noncommunicable Diseases, Injuries, and Their Risk Factors: 14.0% of adults aged 15–69 have experienced a heart attack or stroke, 11.0% report taking aspirin to prevent or manage cardiovascular disease (CVD), 2.2% use lipid-lowering medications (statins) for CVD prevention or treatment, among adults aged 40–69, 19.3% are at high risk of developing CVD within the next 10 years. These findings underscore the urgent need to strengthen cardiovascular disease prevention efforts and improve the management of key risk factors in Mongolia. Goal: To determine the population’s knowledge, attitudes, and practices related to cardiovascular disease risk factors and healthy lifestyle behaviors. Materials and Methods: This descriptive cross-sectional study included 2,532 participants aged 18–69 years from all 21 provinces of Mongolia and Ulaanbaatar city, as part of the “Cardiology, Cardiac Surgery, and Telemedicine in Mongolia” (MON/007) Project. Data were collected using a structured questionnaire comprising six sub-sections, designed to assess knowledge, attitudes, and practices related to 10 modifiable cardiovascular risk factors. Ethical approval was obtained prior to the study, and data were analyzed using SPSS version 23. Results: Thirty-three percent of study participants reported having no knowledge of cardiovascular disease, indicating that roughly one in three adults consider themselves to have little or no understanding of cardiovascular health. In the study, 53.0% of participants reported being unaware of the symptoms of a heart attack, while 42.0% did not recognize the symptoms of a stroke. Among participants who could identify these symptoms, 68.0% indicated dizziness as a sign of hypertension, 65.0% reported headache, and 58.0% noted blurred vision. Among the respondents, 31.0% knew that the normal arterial blood pressure for an adult is 120/80 mmHg, 57.0% were aware that an adult should sleep 7–8 hours per day, 13.0% knew about body mass index (BMI), 30.0% were aware of fasting blood glucose levels, and 44.0% recognized that adults should engage in 30 minutes of physical activity daily. Knowledge of key physiological indicators was significantly associated with educational attainment, gender, and age group, with lower levels of awareness observed among participants with lower education, males, and younger adults (p=0.001). The majority of participants (75.0%-96.0%) reported being aware of the modifiable risk factors for cardiovascular disease. Among the study participants, nine out of ten agreed that maintaining a healthy lifestyle includes regular physical activity, exercising, walking short distances, and understanding that hypertension is harmful and smoking adversely affects the heart. Furthermore, 80–85% reported avoiding excessive alcohol consumption, and 79% believed that cardiovascular disease is preventable. To prevent or reduce obesity, a risk factor for cardiovascular disease, 49.0% of participants reported engaging in regular physical activity, while 33.0% reported following a healthy diet. Among all study participants, 61.0% had never checked their cholesterol levels, 49.0% had never measured their blood glucose, and 15.0% had never monitored their blood pressure. Among respondents exhibiting 1–3 common risk factors, the majority were female, aged 25–34 years, living in rural areas or ger districts, with secondary or specialized secondary education, employed in government institutions, and had a normal BMI. In contrast, among those with 7 or more common risk factors, the majority were male, aged 35–44 years, residing in Ulaanbaatar, living in ger districts, and employed in private organizations. Conclusion Most of surveyed participants had sufficient knowledge and positive attitudes toward modifiable risk factors for cardiovascular diseases (p=0.001). However, they exhibited inadequate preventive practices related to these risk factors. This indicates the importance of targeted intervention on behavior change to address this gap.

Introduction: Following the COVID-19 lockdown, the introduction of powered mopeds and scooters into urban mobility in Mongolia, without basic traffic regulatory frameworks such as vehicle classification, participation rules, age limits for riders, or parking regulations may have contributed to an increased risk of pedestrian injuries. Objective: To examine temporal trends in pedestrian injuries in Mongolia and to assess the impact of the emergence of micro mobility, while accounting for COVID-19 lockdowns, using an interrupted time-series analysis. Methods: We conducted an interrupted time-series analysis using national data on pedestrian injuries in Mongolia from January 2016 to December 2024. Monthly pedestrian injury rates per 10,000 population were calculated and stratified by age groups, regressing it on the number of months after January 2016 (the beginning of the study), after November 2020 (the lockdowns started), after May 2021 (the lockdown lifted and new mode of urban transportation started to release). Results: During the 9-year study period, there were 41,063 pedestrians, of whom 51.5% were male. The monthly rate of overall pedestrian injury started to decrease after the COVID-19 lockdowns possibly due to reduced traffic activity. However, following the lifting of restrictions, the trend started to increase among the age groups under 10 years (1.8%, 95% CI: 0.8–2.8), 10–19 years (1.6%, 95% CI: 0.3–2.9), 50–59 years (0.6%, 95% CI: 0.1–1.2), and 60–69 years (1.3%, 95% CI: 0.4–2.2). Conclusion The increase in pedestrian injuries suggests that the emergence of micromobility may have contributed to higher injury risk for pedestrians in Mongolia. This highlights the urgent need for change in infrastructure and regulations governing micromobility usage to enhance pedestrian safety.

Background: The numbers of pet ownerships tend to increase worldwide.60 to 65 percent of USA citizens are keeping pets at home and 12-15 percent of them have allergic issues. Another research among the European children who have dog allergy increased up to 15.6 percent in 2006 while it was 8.7 percent in 1992. Also, the allergy symptoms usually come out as bronchial asthma. Methods: This study has conducted by hospital based cross sectional study and retrospective and descriptive study model. For the test (BioIC) to identify allergen-specific IgE in 154 patients, hypersensitive to cat, dog and horse allergy. Results: In our study, a total of 154 participants were involved with 1-63 aged (average age 18.7±14.6). By the result of the BioIC test, cat allergy, dog allergy, horse allergy was 114 (74.02%), 52(33.76%), 47(30.51%) respectively.The mean sensitivity rate for cat allergic children was 12.69AU where it indicates 7.61AU in cat allergic adults (p<0.01). The mean sensitivity rate for horse allergic children was 6.04AU where it indicates 2.27AU in horse allergic adults and 7.65AU in dog allergic children and 4.53AU in adults (p<0.04). Conclusions By the result of the allergen specific IgE test in serum, cat allergy, dog allergy, horse allergy was 114 (74.04%), 52 (33.76%), 47(30.51%) respectively. By the result of the allergen specific IgE test in serum, sensitivity rate of epithelial allergen to cat was strong positive where it indicates medium positive for horse and dog sensitive rate. Children has higher sensitivity rate of epithelial allergen than adults.

Introduction: It is necessary and right to study and analyze all aspects of drug materials now when number of mineral based drugs are reducing. Especially it is very important for further researches to properly establish names and number of raw materials for traditional drugs based on ancient scripts. Goal: To carry out comparative study on mineral based drugs numbers and their differences mentioned in Mongolian and Tibetan manuscripts about drug identification methods using ‘Four basics of medicine’ book and its interpretations as a source. Materials and Methods: The study was conducted using methods of ‘Comparing manuscript sources studies’, ‘Analyses and syntheses’ for determining numbers and described with ‘Hermeneutics’ methodology. The study was based on approved methodology and ethical review in December 2018. Results: As it was compiled from manuscripts number of drugs mentioned in Four basic roots of medicine was 57, Ancestors’ important teachings – 68, Blue binderya – 77, Golden descript – 87, Clear crystal beads about medicine – 134, White crystal mirror – 121, Beauty eyes décor – 96. It is seen that books written about mineral based drugs became more comprehensive compared with previous manuscripts and authors were trying to reflect their on drug identification methods and ideas. Conclusion
1. The same time it evidences that traditional medicine was enriched year by year with innovation and searches of every generation scientists.
2. In “The four basics of medicine” manuscript theoretical book they described 57 mineral based traditional drugs but in other studies that number increased to 121 which means in manuscripts like “Basics of magic” and “Basics of future” drugs used that time were described more comprehensive.

Thyroid nodular lesions are the common clinical problem in the world. A variety of tests have been employed to separate benign from malignant thyroid nodules. These tests include isotope scanning and fine needle aspiration cytology (FNAC). Our research was based on the fact that the comparison of FNAC and thyroid isotope scan in thyroid nodule was not researched in Mongolia. Therefore, we want to evaluate the specimen adequacy of FNAC, and compare its result to thyroid isotope scanning in patients with thyroid nodule. The research was conducted on archive materials of FNAC and thyroid isotope scanning of patients with thyroid nodule who were treated in surgical department of The First Central Hospital from 2012 to 2015, and the statistic analyze was done by using SPSS 20 under the auspices of School of Pharmacy and Bio-Medicine,Department of pathology, Mongolian National University of Medical Sciences. We have collected the FNAC of 807 patients, including 34 patients (4.2%) were males and 773 patients (95.8%) were females. FNA cytology results were interpreted as benign in 495 cases (61.3%), follicular lesion of undetermined significance in 31 cases (3.8%), follicular neoplasm in 9 cases (1.1%) suspicious in 17 cases (2.1%), malignant in 3 cases (0.4%), and unsatisfactory in 252 cases (31%). We have got the result of thyroid isotope scanning of 43 (5.32%) patients out of 807 cases. On thyroid scan, 18 patients (41.9%) having cold nodule were labeled as suspicious for malignancy, 25 patients (58.1%) had hot nodule. The FNA diagnosis of 25 patients with a hot nodule following: 1 patient (4%) with neoplasm, 17 patients (68%) with benign results, 6 patients (24%) had non-diagnostic. The FNA diagnosis of 18 patients (41.9%) with cold nodule following: 1 patient (5.5%) with follicular lesion of undetermined significance, 10 patient (55.5%) with benign, 5 patient (27.7%) with non-diagnostic, 2 patient (11.1%) had malignant. The FNAC results were interpreted as benign in 495 cases (61.3%), malignant in 3 cases (0.4%), and unsatisfactory in 252 cases (31%). Two patients out of 18 patients with cold nodule diagnosed as malignancy by FNAC. The sensitivity and specificity of thyroid isotope scanning was 96% and 16.6%, respectively.