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: The human head is an integrated biological structure composed of the brain, cranial bones, facial structures, neuromuscular systems, and sensory organs, all interconnected through coordinated signaling. The relationship between brain development, function, and craniofacial growth is most evident after birth, during which the head increases approximately fourfold in size before adulthood. Brain morphology and volume are associated not only with neurological disorders but also with cognitive and behavioral characteristics. For example, children with holoprosencephaly often present with varying degrees of facial anomalies, while studies have shown that adolescents with malocclusion exhibit higher levels of anxiety, depression, and psychological stress. With the increasing availability of magnetic resonance imaging (MRI), it has become an essential diagnostic tool in clinical practice. MRI is particularly advantageous in pediatric populations due to the absence of ionizing radiation and its superior soft tissue contrast. Recent advances in image processing techniques have enabled comprehensive analysis of both brain structures and craniofacial morphology from a single MRI dataset, forming the basis of this study. Aim: To investigate the relationship between brain tissue volumes and maxillary hypoplasia using MRI-based voxelbased morphometry in children with neurological conditions. Materials and Methods: This study was conducted at the School of Biomedicine, Mongolian National University of Medical Sciences, in collaboration with Chifeng University, as part of the project titled “Investigation of the relationship between craniofacial anomalies and brain disorders using MRI”, funded by the Ministry of Education and Science. Voxel-based morphometry (VBM) analysis was performed on brain MRI scans of children aged 9–11 years. Results: Among the 25 children included in the study, 17 (68%) were male. The youngest average age was observed in the maxillary hypoplasia group (8.4±0.95 years). The signal-to-noise ratio (SNR) of MRI was lowest in the non-temporal epilepsy group (41.1±1.35) and higher in the maxillary hypoplasia group (49.6±8.22). Both epilepsy and maxillary hypoplasia groups demonstrated physiological asymmetry of the cerebral hemispheres, with left parietal lobe dominance (−0.1% and −0.3 cm, respectively). Right frontal lobe dominance (+1.1%) was observed only in the epilepsy group. Conclusion Children aged 9–11 years with maxillary hypoplasia showed a reduction in both gray and white matter volumes of the brain. These findings highlight the importance of early diagnosis of neurodevelopmental disorders affecting odontogenesis and emphasize the need for a multidisciplinary team-based management approach.

Background: Cancer incidence and mortality are steadily increasing both globally and in Mongolia. As these rates rise, traditional Mongolian medicine has long utilized herbal formulas for the treatment of gastric and esophageal cancers and precancerous conditions. One such formulation—Hot Natured 3 Herbs (HN3H)—comprises three species from the Ranunculaceae family: Atragene sibirica L., Ranunculus repens L., and Pulsatilla bungeana L.. However, scientific validation of its anti-tumor effects is essential. This study aimed to investigate the effect of HN3H in a tumor-induced animal model. Aim: To identify the biologically active compounds of HN3H and evaluate their effect in an experimentally induced tumor model in animals. Materials and Methods: The three herbs comprising HN3H—Atragene sibirica L., Ranunculus repens L., and Pulsatilla bungeana L.—were collected during their flowering stage (May–June) in Khishig-Undur, Bulgan province, and dried according to official procedures. Extraction was carried out by maceration in 96% ethanol at a 1:10 ratio. The concentrated extract was suspended in water (1:1) and successively fractionated with dichloromethane, ethyl acetate, butanol, chloroform, and n-hexane. The study was approved by the Research Ethics Committee of the Mongolian National University of Medical Sciences (Protocol №2020/03-04). A colorectal cancer model was established by subcutaneous injection of MC-38 cells (Kerafast, USA) into C57BL/6 mice. Immunohistochemistry was performed using CK20, CDX2, Ki67, and p53 antibodies at 1:100 and 1:200 dilutions. Results: The ethanol extract of HN3H contained 2.98±0.04% total phenolics and 2.16±0.05% total flavonoids. Body weight and tumor volume were measured daily with three repetitions. All groups showed a time-dependent increase in body weight. Mice in groups 1A and 1B received ethanol extract at 50 and 100 mg/kg doses; groups 2A and 2B received dichloromethane extract at the same doses. The negative control group was administered 0.5 mg/kg PBS orally, while the positive control group received intraperitoneal injections of 5-fluorouracil (5FU) at 10 mg/kg twice a week. Tumor growth increased in a time-dependent manner across groups. Compared to the negative control, tumor volumes in four treatment groups showed statistically significant reduction (p˂0.05), while no significant difference was observed when compared to the positive control (p=0.08). Histological analysis revealed necrosis in all groups, with variation in extent. Conclusion The ethanol extract of HN3H exhibited moderate levels of phenolic compounds and a high concentration of flavonoids. HN3H extract inhibited tumor progression and activated lymphocyte-predominant inflammation in tumor tissues, indicating potential anti-tumor activity (p˂0.05).

: We report a case of a 1-year-6-month old baby presenting with classic clinical of Prader-Willi syndrome, a rare congenital disorder. Early identification and multidisciplinary management are critical to improving outcomes. Case presentation: Patient U is a 1.5-year old male. Due to his inability to breastfeed for the first day after birth, diagnostic tests were initiated. He was dependent on tube feeding for over two months. At 9 months, the child was able to hold their head up and began sitting independently around 11 months. His eyes are slightly slanted, the bridge of his nose is narrow, the upper lip is thin, and the corners of his mouth are downturned.The skin soft texture. Muscle tone is noted to be weak. The size of the arms and feet is small. Additionally, the neck is of short stature. Cytogenetic Analysis: November 2023. The analysis identified a microdeletion in the 15q11-q13 chromosomal region. He was discharged from the hospital upon demonstrating the ability to suck effectively, achieving consistent weight gain, and having his sucking and swallowing activities adequately controlled. Discussion and Conclusion Prader-Willi syndrome is a genetic disorder resulting from the non-expression of a gene located on chromosome 15 at the 15q11.2–q13 region. The prevalence of corresponding to an approximate global total of 350,000 to 400,000 cases. The sex ratio is equivalent at 1:1. In the initial year of life (0–1 year), affected infants commonly present with muscle weakness, difficulties in feeding, reduced sucking capabilities, absence of crying or vomiting, diminished motor activity, poor muscle strength, and low weight. For individuals aged 1 to 10 years, symptoms encompass increased appetite, obesity, delays in speech and psychomotor development, a long facial structure, narrow forehead, downturned mouth and eyes, small hands and feet, along with other distinctive facial features. In adolescence and adulthood, prevalent symptoms may include behavioral changes, irritability, uncontrolled eating habits, diabetes, and depression. From infancy onward, holistic care may include nutritional interventions (such as tube feeding and specialized diets), strategies for heat retention, enhancement of sucking abilities. Cardiovascular and respiratory monitoring, weight management, physical activity support, health education for families and caregivers, growth hormone therapy, psychological counseling, sex hormone replacement therapy, and assistance with movement, psychomotor skills, cognitive and intellectual development, alongside speech therapy. Timely diagnosis, integrated multidisciplinary care, and proactive family involvement have the potential to markedly enhance the quality of life for affected individuals.

Background: There are 240 million children with disabilities worldwide, of whom 34 million have hearing and speech impairments; in Mongolia, 1,538 children are affected.¹, ³ Due to barriers in health care, education, employment, social services, and living environments, people with disabilities face limited opportunities to fully participate in social life. In addition to encountering greater obstacles, households with members with disabilities experience poverty levels twice as high as those without.⁴ While studies on children with disabilities in Mongolia have addressed issues related to education, health, and access to social services, little research has been conducted on family quality of life and the factors influencing it. Aim: This study aims to assess the quality of life of families with children who have hearing and speech impairments and to identify factors that influence it. Materials and Methods: The quality of life of families with children who have hearing and speech impairments was assessed using a standardized questionnaire developed by researchers at the University of Kansas, United States, which examines five core domains of family quality of life. A total of 120 parents and caregivers of children aged 0–18 years with hearing and speech impairments were included in the study Results: The mean family quality of life score among families of children with hearing and speech impairments was 3.79±0.61. Among the subdomains, the highest scores were reported for parental role (3.94) and family interactions (3.92), while emotional well-being received the lowest score (3.57). Factors influencing family quality of life included the presence of comorbid disabilities in the child, the caregiver’s self-rated health, stress level, family size, and adequacy of household income. Conclusion The quality of life of families raising children with hearing and speech impairments was found to be generally good. Factors influencing family quality of life included the type of child’s disability, caregiver’s age, health status, stress level, family size, and adequacy of household income.

Introduction : Water is a vital resource for human existence and is essential for daily food processing, preparation, washing, hygiene, and sanitation. Furthermore, providing the population with safe drinking water is one of the pressing problems of the world and some regions.
In recent years, population density and the scale of commercial and industrial activities, as well as clean and dirty water consumption were increased in the capital city. As a result of these, ground and surface water resources are becoming scarce and polluted.
Therefore, assessment of daily drinking and residential water consumption of Ulaanbaatar should be determined to use drinking water properly in daily life and water loss. This study assessed the actual amount of households’ daily water consumption. Goal: The purpose of this study is to determine the daily consumption of drinking water for households in ger areas and apartments in Ulaanbaatar. Materials and Method: This study covers 30 households in ger areas and 15 apartment households, in Ulaanbaatar. Household members performed 6-10 types of measurements every day, within 7 days. As a result of these measurements, actual consumption of water quantity used for drinking and household purposes was calculated. Statistical analysis was done by SPSS Version 21 to calculate the true probability of difference between parameters. Result: 67.9% of the households in the ger areas were 4-5 family members. The average daily household consumption of drinking and domestic water were 68.3 ± 3.57 L (95% 61.3-75.3), the minimum consumption was 12 L, and the maximum was 227 L. Average of the household water consumption water was 97.6-108.9 liters during the weekends, and water consumption was statistically higher than weekdays (p=0.001; p=0.01).
The water consumption of residential households with 3 family members accounted for the majority (30.8%) in this study. The average daily consumption of drinking and domestic water was 297.67±19.7 liters. There was no statistically significant difference (p=0.96) in week. The average daily water consumption including drinking and residential was 270.3-335.97 L.
The total daily drinking and residential water consumption per person was 15.57 L for households in ger areas and 90 L for apartment households. Calculating the daily water consumption of households in ger areas, 60.3% of it is used for laundry, washing dishes, food preparation, washing face and hands, and clothes, 31% for drinking, and 8.7% for outdoor water use. While apartment households, approximately 94.1%, were used for household and 5.9% for drinking purposes. Research ethics approval : This study was discussed at the meeting of the Academic Council of the National Center for Public Health. In addition, this study was carried out according to the methods and methods discussed and approved at the meeting of the Medical Ethics Control Committee of the Ministry of Health (Resolution No. 08). Conclusion The total daily consumption of drinking and residential water per person were 15.57 litres for the households in the ger areas and 90 litres for the apartment households. It implies that it does not exceed the WHO recommendations

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.

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.

Background:We determined lipid parameters which are the leading causes of developing cardiovascular diseases and atherosclerosis and investigated the increased serum triglyceride level which is referred to as atherogen triad , decreased high-density lipoprotein and increased low- density lipoprotein associating with age and sex.Method:237 people who were done lipid level parameter tests in the Central Hospital Laboratory were involved in the study. We identifed cholesterol, triglyceride, lowdensity lipoprotein (LDL) and high-density lipoprotein ( HDL) (COBASC-311,ROCHE,Germany) which are the lipid parameters using full automatic apparatus .Results:While serum cholesterol level increased in the ages between 40-60 and has a tendency to decrease in the further, HDL level was decreasing as the age grew. Serum LDL level has strong direct relevance to cholesterol (r=0.720, p<0.01) and weak relevance to triglyceride (r=0.189,p<0.01). As for the sex, high- density lipoprotein level decreased for men with statistical importance (p<0.05) and there was no signifcant difference in other parameters. LDL level increased for 81.8% , increased cholesterol for 51.1%, raised triglyceride for 27.9% comparing with the normal rate but HDL level was decreased for 32.2% of the participants in the study. These changes mostly occurred at the ages of 40-60. Atherogen triad occurred for 16.5% of the participants and 13(33.3%) of whom were male and 26(66.7%) female.Conclusion:LDL and cholesterol level raised more than the normal rate comparing with other lipid parameters particularly as for 40-60 aged people and atherogen triad which leads to develop atherosclerosis occurs in 16.5% of all adults in the study.