Background: Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism that can be effectively managed when detected early through newborn screening. Biotinidase activity is influenced by neonatal and preanalytical factors, which may affect the interpretation of screening results. Following the introduction of biotinidase deficiency screening in Mongolia in 2025–2026, population-specific data are needed to support accurate screening interpretation. Aim: To determine the distribution and percentile values of biotinidase activity in Mongolian newborns and evaluate associated neonatal and preanalytical factors. Materials and Methods: This analytical cross-sectional study included 6,764 newborns from 12 healthcare facilities in Mongolia between August 2025 and May 2026. After excluding initial screen-positive samples and those with transport times exceeding 30 days, 6,258 newborns were included in the primary analysis. Biotinidase activity was measured in dried blood spots using the Neonatal Biotinidase 3018-0010 kit and VICTOR2D analyzer. Percentile curves by gestational age and birth weight were smoothed using LOWESS. Group differences and associations were assessed using Welch ANOVA and Pearson correlation, respectively. Result: Among 6,258 newborns, mean biotinidase activity was 133.3±32.6 U, with a median of 130.2 U and a P2.5-P97.5 interval of 78.4-206.6 U. Median activity tended to increase with gestational age and birth weight, while the smoothed percentile curves remained above the 58.5 U screening cutoff. Mean activity increased from 124.4±34.1 U in samples collected before 24 hours to 149.9±44.5 U in those collected after 96 hours (p<0.001). Activity showed weak positive correlations with gestational age (r=0.042, p=0.001), birth weight (r=0.114, p<0.001), and body length (r=0.102, p<0.001), but negative correlations with time from sample collection to laboratory receipt (r=−0.327, p<0.001) and from laboratory receipt to testing (r=−0.154, p<0.001). Conclusion Population-specific percentile values for biotinidase activity were established in a large sample of Mongolian newborns. The findings provide baseline data for interpreting biotinidase activity and highlight the importance of standardized sample collection, transport, and testing.

Background: In Mongolia, cervical cancer accounted for 11.9% of all cancers diagnosed in women and 7.3% of cancer-related deaths in 2017, ranking as the third most common cancer among women. The American Society for Radiation Oncology (ASTRO) guidelines recommend concurrent chemo-radiotherapy (CCRT) as a standard and effective treatment for patients with FIGO stage IB3–IVA cervical cancer. Accurate assessment of tumor response following CCRT is essential for evaluating treatment efficacy, identifying residual disease, and estimating the risk of recurrence. Magnetic resonance imaging (MRI) is widely used to assess tumor size, local extent, parametric involvement, and post-treatment morphological changes. In contrast, 18F-FDG PET/CT provides both anatomical and functional information and enables quantitative assessment of tumor metabolic activity using the standardized uptake value (SUV). Aim: To estimate the relationship between treatment response to concurrent chemo-radiotherapy and radiological parameters obtained from MRI and 18F-FDG PET/CT in patients with cervical cancer. Materials and Methods: This retrospective study included 35 patients with histo-pathologically confirmed cervical carcinoma who received concurrent chemo-radiotherapy at the Department of Radiation Oncology, National Cancer Center, between 2024 and 2025. Pelvic MRI examinations were performed using a 1.5-T Siemens MRI system to evaluate tumor dimensions and local tumor characteristics before and after treatment. 18F-FDG PET/CT was performed to assess the metabolic activity of the primary tumor, and the maximum SUV was measured. Tumor response following CCRT was evaluated according to the Response Evaluation Criteria in Solid Tumors (RECIST) version 1.1. The relationships between tumor response, changes in tumor size, and pre-treatment SUV were statistically analyzed. Result: A total of 35 patients aged 32–73 years were included in the study, with a mean age of 51.2±12.6 years. The mean baseline longitudinal tumor diameter measured by MRI was 54.3±15.8 mm. Twenty-eight patients (80.0%) had tumors larger than 4 cm, whereas 7 (20.0%) had tumors smaller than 4 cm. According to the FIGO staging system, 22 patients (62.9%) had stage IIIC1 disease, 7 (20.0%) had stage IIIC2, 3 (8.6%) had stage IIIB, 2 (5.7%) had stage IIB, and 1 (2.9%) had stage IVA disease. Histopathologically, 31 patients (88.6%) had squamous cell carcinoma, 3 (8.6%) had adenocarcinoma, and 1 (2.9%) had clear cell carcinoma. Of the 35 patients, 23 (65.7%) had reached the scheduled post-treatment follow-up time and were evaluable for treatment response according to RECIST 1.1, whereas 12 patients (34.3%) had not yet reached the scheduled time for post-treatment assessment. Among the 23 evaluable patients, 15 (65.2%) achieved a complete response (CR), while 8 (34.8%) achieved a partial response (PR). Following CCRT, the longest tumor diameter measured by MRI decreased by a mean of 94.8% in the CR group and 65.3% in the PR group. The reduction in tumor diameter was significantly greater in the CR group than in the PR group (p=0.0016). The mean baseline primary tumor SUVmax on 18F-FDG PET/CT was 16.0±9.8 in the CR group and 24.3±14.5 in the PR group. Although the baseline SUVmax tended to be lower in the CR group, the difference did not reach statistical significance (Mann–Whitney U test, p=0.059). A higher baseline SUVmax tended to be associated with a smaller reduction in tumor diameter following CCRT. Conclusion CCRT resulted in a significant reduction in primary tumor size in patients with cervical cancer. The reduction in tumor size was significantly greater among patients who achieved a complete response than among those who achieved a partial response. Although pre-treatment 18F-FDG PET/CT findings suggest that MRI-based tumor size assessment combined with metabolic information from 18F-FDG PET/CT may provide complementary information for evaluating treatment response following CCRT.

Background: Pulmonary alveolar proteinosis (PAP) is a rare lung disorder characterized by the accumulation of surfactant within the alveoli, leading to impaired gas exchange and respiratory insufficiency. Although the disease is uncommon, it significantly affects patients’ quality of life and requires specific diagnostic and therapeutic approaches. Whole lung lavage (WLL) is considered the standard treatment; however, it has not been widely implemented in Mongolia. We report the first successful case of WLL performed for PAP in Mongolia. Case Presentation: A 56-year-old male presented with dyspnea. Chest computed tomography demonstrated a bilateral “crazy paving” pattern. Bronchoalveolar lavage fluid was positive for periodic acid–Schiff (PAS) staining, and anti–GM-CSF antibodies were detected, confirming the diagnosis of PAP. WLL was performed under general anesthesia using a double-lumen endotracheal tube with bronchoscopic guidance. One lung was ventilated with 100% oxygen while the contralateral lung was sequentially lavaged with 800–1000 mL of warm (37°C) saline per cycle until the effluent became clear. A total of approximately 20 liters of saline was used. Result: The procedure was completed successfully without complications. Following treatment, the patient showed marked clinical improvement with reduced dyspnea and increased exercise tolerance. Oxygen saturation improved from 88% to 93%, and spirometric parameters (FVC, FEV₁) demonstrated improvement. Chest imaging revealed a reduction in pulmonary opacities. Conclusion This case demonstrates the successful implementation of whole lung lavage (WLL) in Mongolia and highlights its importance in improving the diagnostic and therapeutic capacity for rare pulmonary diseases such as pulmonary alveolar proteinosis. The procedure resulted in significant improvement in clinical, functional, and radiological parameters, consistent with findings from international studies. Early diagnosis of PAP and the adoption of standardized protocols in accordance with international guidelines are essential to optimize treatment outcomes and enhance patients’ quality of life.

Background: Congenital hypothyroidism (CH) is a condition characterized by a decrease in the amount of thyroid hormones in the blood or a complete lack of thyroid function due to a decrease in the amount of thyroid hormones in the blood or a complete lack of thyroid hormones. CH occurs in 1 per 3000-4000 live births worldwide. The clinical symptoms of CH are initially subtle, usually appearing within a month of birth, and if diagnosis and treatment are delayed, it can lead to physical and mental developmental delays and eventual disability. The cause of the disease is not fully known, but it is believed to be influenced by maternal iodine deficiency and mutations in genes responsible for neonatal thyroid development (TSHR, PAX8, NKX2-1, and FOXE1 transcription factors). More than 40 types of TSHR gene mutations are causing CH. Studies conducted in Japan, China, and Taiwan have shown that the p.R450H mutation in the TSHR gene is a risk factor for CH. In Mongolia, a newborn screening analysis of congenital hypothyroidism revealed a rate of 1 case per 2091 live births in 2021, which is higher than the global average. However, there is a lack of molecular genetic research on this condition in the country. Aim: To identify of p.R450H mutation in the TSHR gene among neonates diagnosed with congenital hypothyroidism through neonatal screening Materials and Methods: The study used dried blood spots from 17 children diagnosed with congenital hypothyroidism at Mongolian-Japanese University hospital and Central Hospital of MNUMS from 2012 to 2024. To identify an optimal method for DNA extraction from dried blood samples, we evaluated five different protocols. DNA was extracted using the method that yielded the highest quantity and purity, and the TSHR gene was subsequently amplified by PCR. Detecting the p.R450H mutation of the TSHR gene, the PCR product was cut with Faul restriction enzyme and the results were evaluated by gel electrophoresis. Results: In our study, DNA isolation from dried blood using methods 1 and 2 had high yield and purity, so we isolated DNA from samples of 17 children diagnosed with congenital primary hypothyroidism and amplified the TSHR gene by PCR. When the PCR products were run through gel electrophoresis, 14 samples were amplified by PCR. After that, the genotype of the p.R450H mutation of the TSHR gene was determined by fragment length polymorphism analysis, and 11 (78.6%) samples were found to have the G/G genotype, 2 (14.3%) samples were found to have the G/A genotype, and 1 (7.1%) sample was found to have the A/A genotype, respectively. Conclusion Among children with congenital hypothyroidism diagnosed through newborn screening test between 2012 and 2024, the p.R450H homozygous and heterozygous mutation in the TSHR gene was 21.4%.

Background : Diabetic ketoacidosis, an early and common complication at the initial diagnosis of Type 1 Diabetes Mel litus (T1DM), remains a significant clinical concern. The high prevalence of this complication in the pediatric population provided the rationale for conducting the present study. Aim: Our study aims to compare the incidence, clinical features, and physical measurements associated with diabetic ketoacidosis (DKA) at the time of initial diagnosis of Type 1 Diabetes Mellitus (T1DM), and to classify the severity of DKA based on selected laboratory findings. Materials and Methods: We conducted a retrospective observational study of newly diagnosed T1DM with DKA in children aged less than 18 years old at National Center for Maternal and Child Health during the period 2017-2022. The study compared the analysis of medical and laboratory records from patients medical charts. The severity of diabetic ketoacidosis (DKA) was classified based on laboratory criteria according to the 2022 guidelines of the International Society for Pediatric and Adolescent Diabetes (ISPAD). The study data were analyzed using STATA-16.0. Results: During the period from 2017 to 2022, a total of 124 children under 18 years of age (mean age: 9.11±3.84 years) were newly diagnosed with T1DM and included in the study, of whom 67.7% (n=84) presented with diabetic ketoacidosis (DKA). Of the children with DKA, 57.2% (n=48) had severe, 17.8% (n=15) had moderate, and 25.0% (n=21) had mild severity. Girls were more frequently affected (67.1%, n=47; p=0.871). Having a viral infection before the first diagnosis of type 1 diabetes (51.2%, n=43, p=0.011) and having high blood glucose levels at that time (25.8±9.32 mmol/l, p=0.012) were statistically significantly associated with diabetic ketoacidosis. The blood gas analysis of children with ketoacidosis showed pH 7.05±0.15, HCO3 8.68±4.27 mEq/l, and the group with severe ketoacidosis had higher blood potassium levels (4.08±0.8 mEq/l, 3.6±0.56 mEq/l, p=0.049) and blood glucose levels (28.37±9.23 mmol/L, 21.96±9.18 mmol/L, p=0.012) compared to the group with mild ketoacidosis. Conclusions 1. Diabetic ketoacidosis (DKA) was identified in 67.7% (n=84) of the children included in the study. 2. At the initial diagnosis of Type 1 Diabetes Mellitus (T1DM), vomiting and fatigue were the predominant clinical manifestations of DKA. 3. Severe DKA was observed in 57.1% (n=48) of the participants, with elevated serum potassium and glucose levels noted as contributing factors to the severity of ketoacidosis.

Introduction: In 2020, about 3% of children and 5% of adolescents had metabolic syndrome, with some variation across countries and regions. The prevalence of overweight and obesity among children and adolescents aged 5-19 years has increased sharply from only 8% in 1990 to 20% in 2022. 3-5% of children and adolescents have hypertension, 10% 14% have changes in arterial pressure, and the prevalence has increased from 1.3% -6.0% These risk factors can lead to MetS, and although there are several studies by national researchers in adults, research on risk factors for MetS in childhood is rare. Aim: To evaluate the physical growth of children aged 6-17 and study the risk of metabolic syndrome (MetS) among them. Materials and methods: A family health center-based, cross-sectional survey was conducted in the apartment district and ger district of Ulaanbaatar, using standardised measurement tools. A total of 622 participants aged 6-17 years were included in this study. Body weight, height, waist circumference, arterial blood pressure, and blood glucose of the participants were measured and the results of body measurements were estimated using the growth chart. Results and conclusions Among the participants, 48.2% (n=300) were male, 51.8% (n=322) were female. The rate of overweight and obesity among the study population is 20.26%, and male children are 2 times more obese than female children. 7.23% of the study participants. The prevalence of metabolic syndrome was 1% with 3 risk criteria according to the IDF 78.93% (n=491) have no risk, 19.33% (n=121) have 1 risk, and 0.48% (n=4) have 2 risks. Among the studied risk factors for metabolic syndrome, overweight, obesity, and central obesity were the predominant risk factors among children. One in five children is either overweight or obese, with boys being twice as likely to experience these conditions (p<0.001). In 1% of the study participants, metabolic syndrome with three risk factors was identified. Overweight, obesity, and metabolic syndrome were more prevalent among the 15-17 age group compared to other age groups (p<0.001).

Purpose: To investigate the outcomes of ROP screening of retinopathy of prematurity (ROP). Methods: This was a prospective of prematurity infants screened ROP from 2020 April 13th to April 28th 2020 and from 2020 June 08 th to June 22th 2020 and prospective cohort study of premature infants with treatment-requiring ROP who received intravitreal injections, laser surgery. Demographic factors, diagnosis and clinical course were recorded. Indirect ophthalmoscopy and Retinal imaging was performed using RetCam (Natus Medical, Pleasanton, CA) and images were taken. Each eye was evaluated by the pediatric ophthalmologist and aimag’s ophthalmologist for the presence or absence of ROP, zone of vascularization, stage, plus disease, and aggressive posterior ROP (AP-ROP). The diagnosis and classification of ROP for this current study were determined by examination using indirect ophthalmoscopy, and treatment plans were determined according to the International Classification for ROP and the Early Treatment for ROP Study (ET-ROP).^2,13 Results: A total of 90 premature infants with BW ≤ 2000g and/or GA ≤ 34 weeks were screened for ROP during the study period. 8 (8.8%) of the 90 infants screened required treatment. The 8 infants who received ROP treatment had a mean GA of 28.5 ± 1.7 weeks, mean BW of 1237.5 ± 125.42g, mean PMA of 36 weeks and mean follow-up time of 2 months. Conclusion After treatment, resolution of ROP was noted in approximately 100 % of the patients who had treatment-requiring ROP.

Correlation between delay time of surgery of congenital cataract and postoperative visual acuity Introduction: Worldwide, child cataract is 1 to 15 cases per 100,000 children are diagnosed. In the International Classification of Diseases, pediatric cataracts are classified as congenital (Q12) and developmental (H26.0). Congenital cataract occurs in 1–3 out of 10,000 children, and if diagnosed, surgery is required without delay. International researchers report that congenital cataracts require semi-emergency surgery. It is also recommended that children with congenital cataracts be diagnosed after 3 months of age without surgery. Congenital cataracts are recommended for surgery in one eye within 6 weeks and in both eyes within 10 weeks. Early detection of congenital cataracts and emergency surgical treatment are important to improve postoperative visual outcome and quality of life. To investigate the correlation between the surgical delay time and postoperative visual acuity in children diagnosed with congenital cataracts. Material and methods: This study conduct based on the ophthalmic surgery department of the National Center for Maternal and Child Health, performed for a retrospective longitudinal study design. The study examined cases of congenital cataracts in both eyes and retrospectively follow patients who had congenital cataract surgery in 2018-2020 from the onset of symptoms to the postoperative period. The sample size was calculated using open.epi. We sampled participants for non-probabilistic purposes. The study included children 1 year of age and younger or with nystagmus, cataract with nuclear and polar morphology , and bilateral cataracts Statistical analysis was performed using STATA 16.0 software. The risk of delay time to visual acuity was determined by an ordinal regression model. Results: The study included 46 cases of congenital cataracts, under the age of 16. 61 percent of the children were male and 58.7 percent were from rural areas. The postoperative visual acuity of the children in the study was <0.09 in 52.2% (n = 24) and 0.1

Outcomes of retinopathy of prematurity screening Background: Retinopathy of prematurity (ROP) is a potentially blinding eye disorder that primarily affects premature infants weighing about 1250 grams or less that are born before 31 weeks of gestation (a full-term pregnancy has a gestation of 38-42 weeks). The smaller a baby is at birth, the more likely that baby is to develop ROP. This disorder — which usually develops in both eyes — is one of the most common causes of visual loss in childhood and can lead to lifelong vision impairment and blindness. ROP was first diagnosed in 1942. Our goal was to investigate the outcomes of ROP screening of retinopathy of prematurity (ROP). Materials and methods :This was a prospective of prematurity infants screened ROP from 2020 April 13th to April 28th 2020 and from 2020 June 08 th to June 22th 2020 and prospective cohort study of premature infants with treatment-requiring ROP who received intravitreal injections, laser surgery. Diagnosis and clinical course were recorded. Indirect ophthalmoscopy and Retinal imaging was performed using RetCam (Natus Medical, Pleasanton, CA) and images were taken. Each eye was evaluated by the pediatric ophthalmologist and aimag's ophthalmologist for the presence or absence of ROP, zone of vascularization, stage, plus disease, and aggressive posterior ROP (AP-ROP). The diagnosis and classification of ROP for this current study were determined by examination using indirect ophthalmoscopy, and treatment plans were determined according to the International Classification for ROP and the Early Treatment for ROP Study (ET-ROP). Results: A total of 90 premature infants with BW ≤ 2000g and/or GA ≤ 34 weeks were screened for ROP during the study period. 8 (8.8%) of the 90 infants screened required treatment. The 8 infants who received ROP treatment had a mean GA of 28.5 $ 1.7 weeks, mean BW of 1237.5 $ 125.42g, mean PMA of 36 weeks and mean follow-up time of 2 months. Conclusions: After treatment, resolution of ROP was noted in approximately 100 % of the patients who had treatment-requiring ROP

Introduction : Attention-Deficit/Hyperactivity Disorder (ADHD) is a disorder that occurs during childhood development, which presents with signs of reduced attention and hyperactivity [1]. Necessary nutrients, such as trace minerals, including manganese, iron, zinc, iodine, selenium, copper, and chromium, are associated with changes in neuronal function that can lead to adverse effects on behavior and learning [2]. In addition to these, social, emotional, behavioral problems, and cognitive impairments such as executive dysfunctions are common in ADHD [3]. Goal: To evaluate the hair elements and intelligence quotient in children with ADHD. Materials and Methods: This is a cross-sectional comparative study conducted at elementary schools of Ulaanbaatar city. All in all 60 children of both genders aged between 7-12 years old were included in the study. Children were divided into two groups as children with ADHD group and a control group. Each group had 30 children. For assessment of emotional Intelligence EQ-i:YV - Emotional Quotient Inventory: Youth Version (Bar-On & Parker, 2000; it ad. Sannio Fancello, & Cianchetti, 2012) was used. Scalp hair samples were randomly collected from approximately ten sites around both sides of posterior parietal eminences and external occipital protuberance. Samples were then packed at room temperature and submitted for laboratory analysis. The study was approved by the Research Ethics Committee of Mongolian National University of Medical Sciences (Reg. No. 2018/Д-10). Results: The IQ of children with ADHD group were 85.03±16.86 p<.0001 and the IQ of control group =108.9±21.22, p<.0001. We identified hair minerals such as Mg, Zn, Pb, Se, Mn. We have then compared to each group and normal ranges of ages. ADHD group and the control group had Pb concentration that was slightly higher and inversely Mg concentration was slightly lower (r=-0.502, p=.005). Concentration of Pb, IQ were directly opposite (r=-0.38, p=.03). Conclusion
1. IQ was lower in the ADHD group compared to control group 85.03±16.86 p<.0001, monitored group 108.9±21.22, p<.0001.
2. The group with ADHD had lower Mg, Zn, and higher Pb, Se, Mn (p<.0001). The IQ decreased when there was increased Pb and decreased Mg.