Background: Cleft lip and palate (CLP) is a congenital anomaly that accounts for approximately 65% of all craniofacial malformations. In Mongolia, the prevalence of CLP is estimated at 0.93 to 1 per 1,000 live births, which is comparable to the global average but slightly higher than the average reported among Asian countries. The incidence is observed to be twice as common in males compared to females. Diagnosis: The patient is a 15-year-old male with a history of congenital unilateral cleft lip and palate. He underwent primary surgical repair of the cleft at the age of 9. As of May 2022, clinical examination revealed maxillary hypoplasia, anterior crowding, and a combination of bilateral posterior and anterior crossbite. Cephalometric analysis demonstrated a skeletal Class III malocclusion with midfacial deficiency. Treatment: Orthodontic treatment was initiated in October 2022 using a non-removable, self-ligating bracket system (MBT 0.022” slot, stainless steel). In the first month, CuNiTi 0.014 archwires were placed, and cross elastics were applied from the maxillary to mandibular canines on the left side for two months. On December 10, 2022, CuNiTi 0.014×0.025 archwires were placed in both arches, accompanied by coil springs to open space. Subsequent phases involved transitioning to stainless steel (SS) and titanium-molybdenum alloy (TMA) archwires for alignment and leveling. Treatment Outcome: At the end of treatment, a Class I molar and canine relationship was achieved. The axial inclinations of the upper and lower incisors reached normative values based on lateral cephalometric analysis. The maxillary arch form was expanded and improved to a more ideal rounded contour. Dental crowding was resolved without extraction, and both transverse and sagittal occlusal relationships were significantly improved. Conclusion This clinical case demonstrates that fixed orthodontic treatment in a patient with unilateral cleft lip and palate can effectively correct dental crowding, normalize occlusal relationships, and significantly improve facial esthetics, phonetics, and overall quality of life. Orthodontic intervention played a vital role in restoring function and supporting psychosocial and physical development.

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.

Background: Serum natriuretic peptide (NT-proBNP) is a critical biomarker for diagnosing left ventricular dysfunction. Heart failure is the leading cause of mortality in chronic kidney disease (CKD), emphasizing the need for its early detection and prognosis. Objective: This study aimed to determine the serum NT-proBNP levels in participants with CKD and establish a cut-off value for predicting heart failure. Methods: A descriptive cross-sectional study was conducted from April 1 to July 1,2024. This study received approval from the Ethics Committee of the Institute of Medical Sciences (Approval No.24/01). A total of 117 CKD patients hospitalized in the Nephrology and Endocrinology Department of the third state hospital were enrolled based on predefined inclusion and exclusion criteria. Data were collected using questionnaires, laboratory and heart ultrasound test results. Serum NT-proBNP levels were measured using a rapid immunofluorescence quantitative analyzer. Data were analyzed with SPSS 26.0. Results: The mean age of the 117 participants was 57.9 ± 14.7 years, with 51.3% being male. The mean serum NT-proBNP level was 7686 ± 12149 pg/mL. Statistically significant differences were observed in serum creatinine, sodium, calcium, CKD stage, and arterial hypertension between genders (p<0.05). NT-proBNP levels in hemodialysis patients differed significantly between heart failure and non-heart failure groups (p<0.05). Significant differences were also found in hemoglobin, serum albumin, NT-proBNP levels, and CKD stages (p<0.05). NT-proBNP correlated significantly with risk factors such as hemodialysis, diabetes, and decreased systolic blood pressure (p<0.0001). A weak inverse relationship was noted between systolic blood pressure and NT-proBNP (R² = 0.16). The NT-proBNP cut-off value for predicting heart failure was 3027 pg/mL, with an AUC of 61.7% (sensitivity: 74.5%, specificity: 55%). Conclusion Serum NT-proBNP levels are elevated in CKD patients regardless of heart failure. The established cut-off value for NT-proBNP in CKD patients to detect heart failure was 3027 pg/mL, with moderate diagnostic utility (AUC = 61.7%).

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: Among the endocrine, nutritional, and metabolic disease and thyroid disorders occupy a significant place. According to the World Health Organization, 8-18% of the world’s population suffer from thyroid disorders. In our country, no research on the prevalence of the disorders has been conducted before, and this research methodology was discussed by the Scientific committee of the National Center for Public Health and was approved by resolution No.156 of the Ethics Committee of the Ministry of Health on 2020. Materials and Methods: In order to determine the prevalence of thyroid disease in the country, we collected the actual number of thyroid disorders registered in 9 districts of the capital city and 330 soums of 21 aimags for a total of 10 years from 2011 to 2020. The prevalence of thyroid disorders was mapped using Arc view and GIS software. Results Endocrine, nutritional and metabolic disease account for 2.3% of all outpatient cases. Endocrine, nutritional, and metabolic disease accounted for an average of 168.3 per 10000 population over the past 10 years, and thyroid disorders accounted for 45 or 26.7% of endocrine, nutritional, and metabolic diseases. Thyroid disorders are highest in people aged 40-49 years.
Thyroid toxicity is the most common type of thyroid disease in Mongolia, accounting for 56.2%, with an average of 17.2 per 10000 population in 2011-2020. However, iodine deficiency-related thyroid disease accounts for 5.5% of all thyroid disorders, with an average of 2.5 per 10000 population in 2011-2020. In 2011, it decreased by 2.2 per 10000 population, and by 2020, it decreased by 0.2 per thousand to 2.0, but in the last 5 years, it has increased by an average of 2.4 per 10,000 population, and in the last 5 years it has increased by 0.2 per thousand, or 2.6 per 10,000 population. Morbidity is high in the Khangai and Central regions.

Background: Breastfeeding is the ideal food source for all newborns globally. Proper feeding of infants and young children promotes optimal growth and development, especially in the critical window from birth to 2 years of age. Exclusive breastfeeding for 6 months and continued breastfeeding for the first 2 years of life protects children from infection, provides an ideal source of nutrients, and is economical and safe. Objective: To assess the indicators of infant feeding practices among 0- 23 months old children. Materials and Methods: The NNS V was implemented in 21 aimags (provinces) in 4 economic regions (Central, Eastern, Khangai, Western) and the capital city of Ulaanbaatar. Given the regional differences in lifestyle and nutrition status, target populations were stratified into 5 strata based on economic region and Ulaanbaatar with equal samples drawn from each stratum using a cluster-randomized sampling design [1]. The infant and young child feeding indicators assessed in the NNS V were based on the mother’s or caretaker’s report of breastfeeding and consumption of foods and fluids by the child during the day or night prior to being interviewed. Results: 83.7% of children under 2 years started breastfeeding within 1 hour of birth and though almost all children were ever breastfed (97.9%), a slightly higher percentage of girls were ever breastfed overall and within 1 hour of birth. Children 0-5 months were categorized according to whether they were exclusively breastfed or predominantly breastfed, with the former only allowing vitamins, mineral supplements, and medicine and the latter also including plain water and non-milk liquids. Among children 0-5 months of age, 58.3% were exclusively breastfed and 65.3% were predominantly breastfed, having received other liquids or foods in addition to breast milk. The prevalence of exclusive breastfeeding was lowest in the 4th wealth index quintile (46.5%) and wealthiest quintile (54.0%) households. Conclusions Exclusive breastfeeding and early initiation of breastfeeding practices are unacceptably low in Mongolia; 20% of newborns are not breastfed within 1 hour of birth and more than 40% of infants under 6 months of age are not exclusively breastfed and therefore, not receiving optimum nutritional and immunity benefits from breast milk. Strengthening IYCF counselling in all regions and wealth quintiles to support women to practice optimal breastfeeding, along with counselling and awareness of timely and adequate complementary feeding for children under 2 years of age, should be a top priority for public health and as it is a key strategy to reduce malnutrition in children.

Background: Weight at birth is a good indicator of the mother’s health and nutrition status during gestation and a child’s chances for survival, growth, long-term health, and psychosocial development. Low birth weight (defined as less than 2500 grams) poses a range of serious health risks for children. Objective: To assess the prevalence of low birth weights (LBW). Materials and Methods: The NNS V was implemented in 21 provinces (aimags) in 4 economic regions (Central, Eastern, Khangai, Western) and the capital city of Ulaanbaatar. A total of 2250 children aged 0-59 months. Given the regional differences in lifestyle and nutrition status, target populations were stratified into 5 strata based on economic region and Ulaanbaatar with equal samples drawn from each stratum using a cluster-randomized sampling design. For the selection of households in urban areas, the process involved first selecting 30 khoroos (clusters), then khesegs, and then households with a child 0-59 months of age. Ethical considerations : The survey methodology was discussed at the Scientific Committee of the Public Health Institute (recently named by National Center for Public Health) and granted the PHI Directors Order on 28th June, 2016. Ethics approval for conducting the NNS V, was obtained from the Medical Ethics Committee under the Mongolian Ministry of Health. Results: Almost all (99.5%) children in the sample were weighed at birth with 5.0% weighing less than 2500 grams at birth and 12.6% weighing over 4000 grams at birth. The prevalence of low birth weight was slightly higher among girls than boys, however high birth weight was much more common in boys (15.9%) compared to girls (9.5%). Prevalence of low birth weight was highest in Western region (9.6%) and the poorest households (7.8%) while the prevalence of high birth weight was highest in Ulaanbaatar (13.8%) and wealthiest households1 (16.4%). High birth weight was more than double among children of overweight (17.5%) and obese (17.3%) mothers compared to children of normal weight (8.4%) or underweight (7.0%) mothers. Among singleton births, women <29 years of age had higher LBW rates than did those 30-39 years of age in both years, irrespective of birth order. LBW rate was more than double among mothers in kazak ethnic groups (13.8%). Conclusions The younger age of the mother was more likely to develop low birth weight, and it was twice as high among mothers in Kazak ethnic groups. Therefore, adolescents and women of reproductive age needed to improve the health education and to identify the causes and risk factors of low birth weight among mothers in Kazak ethnic groups.

Background: Iron is an essential mineral needed for physical and cognitive development with iron needs greatest during pregnancy, infancy, childhood, and adolescence. Iron is vital throughout the lifespan as it is a component of haemoglobin, the protein responsible for transporting oxygen from the lungs to body cells for energy production. Iron deficiency results from a depletion of body iron stores due to increased iron needs, inadequate dietary iron intake, reduced iron absorption, or loss of iron from infections caused by malaria, hookworms, and other intestinal parasites. In advanced stages, iron deficiency leads to iron deficiency anaemia, a condition of low red blood cells and reduced oxygen-carrying capacity. Goal: This study aimed to determine body iron stores in Mongolian children aged 6-59 months, and estimate prevalence of iron deficiency among of studied children. Materials and Methods: In this study were used materials that collected during the fifth national nutrition survey conducted in 21 provinces of 4 economic regions and 8 districts of Ulaanbaatar city of Mongolia. The fifth national nutrition survey was household based survey; therefore sampling unit was household with 5 year-old child. We had used demographic information collected by interview methods and laboratory examination results on ferritin, soluble transferrin (sTfR), C reactive protein (CRP) and α1-acid glycoprotein (AFP) in serum samples collected from 6 to 59 months old children, pregnant women and 15–49 year-old men living in child’s households. Serum Ferritin and soluble transferrin (sTfR) were used as a biomarker for iron store and iron deficiency and C reactive protein (CRP) and AFG were used as indicators for acute and chronic infection. The determination of iron status is challenging when concomitant infection and inflammation are present because of confounding effects of the acute-phase response on the interpretation of most iron indicators. Effects of C reactive protein (CRP) and AGP concentrations on estimates of ID according to serum ferritin (SF) and soluble transferrin receptor (sTfR) were considered in the study. Ethical considerations : The survey protocol was discussed at the scientific committee of the Public health institute and approved by director of scientific committee of PHI on June 28, 2016. Ethical approval for conducting the survey, including obtaining biological samples was obtained from the Medical ethics committee under the Ministry of Health of Mongolia on July 7, 2016. Participation in the survey was voluntary, oral and written informed consent was obtained from each participants and adult caregivers of under 5 year-old children. Results: Biomarkers of iron status were adjusted with inflammation indicators and estimated iron deficiency (ID) and total body iron store in 1732 children 6-59 month-olds. The study findings showed that adjusted mean concentration of serum ferritin and soluble transferrin receptor was 33.7 µg/l and 8.8 mg/l in children age of 6-59 months, respectively. The calculated total body iron store by using adjusted SF and soluble transferrin receptor was 2.8 mg/kg among surveyed children. Iron deficiency was estimated by using 2 different biomarkers among selected population group. The prevalence of iron deficiency estimated by using SF was 20.7% in children 6-59 months. Iron deficiency in children defined by using serum soluble transferrin receptor was 27.7%. Conclusions
1. The average serum ferritin and soluble transferrin receptor concentrations was 33.7 µg/l and 8.8 mg/l in children age of 6-59 months, respectively. Total body iron store estimated by using SF and soluble transferrin was 2.8 mg/kg among surveyed children.
2. The prevalence of iron deficiency estimated by using SF and sTfR was 20.7% and 27.7% in children 6-59 months, respectively. According to the WHO recommendation, prevalence of iron deficiency among Mongolian children aged 6-59 months is classified as “prevalent”.
3. Overall proportion of children with low body iron store was 22.4%. The prevalence of iron depletion is relatively common in boys, young children aged 6–23 months, and rural children aged 6-59 months.

Background : Overweight and obesity are conditions of over nutrition resulting from consumption of more calories than the body requires leading to excess body fat accumulation. The prevalence of both overweight and obesity is increasing globally in all age groups in high, middle, and low-income countries and is largely attributed to the “nutrition transition” with a shift from traditional diets to readily available and inexpensive, low-nutrient unhealthy foods high in energy [1].
The move away from traditional to “junk” foods often occurs at the same time as the move of populations away from daily physical activity and increase in sedentary activities such as time spent in front of a phone, computer, or television, furthering increasing the risk of becoming overweight. People who are overweight or obese are at higher risk for serious health problems including hypertension, heart disease, stroke, diabetes, some cancers, and osteoarthritis. The increase in overweight and obesity is accompanied by a dramatic increase in prevalence of above mentioned chronic conditions in the worldwide. While the long-term repercussions of overweight and obesity are severe, they are largely preventable and treatable through healthy diets and healthy lifestyle behaviors [2]. Materials and Methods: The fifth National nutrition survey (NNSV) was implemented in 21 provinces (aimags) in 4 socio-economic regions (Central, Eastern, Khangai, and Western) and the capital city of Ulaanbaatar. Given the regional differences in dietary patterns and nutrition status, target populations were stratified into 5 strata based on 4 regions and Ulaanbaatar with equal samples drawn from each stratum using a cluster-randomized sampling design. In total, 1750 school children data on demographic and dietary information collected by interview methods and anthropometric measurement results were used in this study. Ethical considerations: The survey protocol was discussed at the Scientific Committee of the Public Health Institute (recently named by National Center for Public Health) and granted by order of director of Scientific committee of PHI on 28th June, 2016. Ethical approval for conducting the NNS V was obtained from the Medical Ethics Committee under the Ministry of Health of Mongolia on July 7, 2016. Participation in the survey was voluntary, oral and written informed consent were obtained from adult caregivers of each children. Results: Consumption of unhealthy or junk (high-calorie, low-nutrient) foods in the past week was nearly universal (99.0%) among school children 6-11 years of age. Over half of children (51.4%) consumed junk foods at least once per week and 45.7% consumed junk foods a few times a week. Consumption of sugar-sweetened beverages was high with 80.9% of children consuming these at least once in the past week. Overall consumption of fried foods was lower than consumption of junk foods or sugar-sweetened beverages with 22.7% of children not consuming any fried foods in the past week and only 8.5% of children consuming fried foods a few times per week. Consumption of sweet foods was high with nearly all children having consumed sweet foods in the past week, 45.9% of children 6-11 years having consumed sweet foods a few times per week.
The prevalence of overweight (BMI > +1 SD) was 22.2% and prevalence of obesity (BMI > +2 SD) was 6.4%. Overweight prevalence was higher in boys (26.6%) compared to girls (17.8%) and in urban (23.9%) compared to rural (17.6%) areas with the highest prevalence in Ulaanbaatar (25.6%) compared to other regions. Children 6 years old (26.1%) and 7 years old (25.6%) had a higher prevalence of overweight than older children. Conclusion
1. Consumption of unhealthy foods and drinks is common to 6-11 year olds group, with almost all children (99.2%) consuming any type of unhealthy foods and drinks at least once per week, in particular, 8 out of 10 children were found consuming sugary drinks and/or deep fried food.
2. The consumption of unhealthy foods was not differing by child’s sex, there were revealed significant differences between living area and regions. Proportion of the school children 6-11 years of age was relatively higher in Ulaanbaatar city and urban settings.
3. The prevalence of overweight and obesity in school children aged 6-11years sharply increased from 2010 NNS IV level and reached 22.2% and 6.4%, respectively. Among children with obesity consumption of any unhealthy foods and sugary drinks were 1.4–1.9 times higher than nonobese children, respectively.

Background: Overweight and obesity are conditions of over nutrition resulting from consumption of more calories than the body requires leading to excess body fat accumulation. The prevalence of both overweight and obesity is increasing globally in all age groups in high, middle, and low-income countries and is largely attributed to the “nutrition transition” with a shift from traditional diets to readily available and inexpensive high-energy and low-nutrient foods [1].
The move away from traditional to “Junk” foods often occurs at the same time as the move of populations away from daily physical activity and increase in sedentary activities such as time spent in front of a phone, computer, or television, furthering increasing the risk of becoming overweight. People who are overweight or obese are at higher risk for serious health problems including hypertension, heart disease, stroke, diabetes, some cancers, and osteoarthritis. The increase in overweight and obesity is accompanied by a dramatic increase in prevalence of these chronic diseases at the global level. While the long-term repercussions of overweight and obesity are severe, they are largely preventable and treatable through healthy diets and healthy lifestyle behaviors [2]. Materials and Methods: The NNS V was implemented in 21 provinces (aimags) in 4 economic regions (Central, Eastern, Khangai, and Western) and the capital city of Ulaanbaatar. Given the regional differences in lifestyle and nutrition status, target populations were stratified into 5 strata based on economic region and Ulaanbaatar with equal samples drawn from each stratum using a cluster-randomized sampling design [3]. Total participated 1944 mothers’ years of age who had a child aged 0-59 months. Ethical considerations : The survey methodology was discussed at the Scientific Committee of the Public Health Institute (recently named by National Center for Public Health) and granted the PHI Directors Order on 28th June, 2016. Ethics approval for conducting the NNS V, including obtaining biological (blood and urine) samples, was obtained from the Medical Ethics Committee under Ministry of Health, Mongolia on 7th July, 2016 with granted approval to conduct the survey and send blood serum samples to the VitMin laboratory in Germany. Participation in the survey was voluntary and oral and written informed consent was obtained from all individuals selected for the survey. Participant confidentiality was maintained during data collection, data entry, data analysis, and in the dissemination of survey findings. Results: Nearly half of mothers (46.2%) were overweight with 16.5% of mothers obese and 4.1% underweight. The prevalence of overweight in mothers was highest in rural areas (50.1%), married status (49.3%), and lowest in Ulaanbaatar (42.3%) compared to other regions (48.6% to 52.6%). The overall prevalence of anaemia among mothers was 16.2% with highest prevalence amongst Kazakh (31.9%) and other ethnic minority mothers (25.1%), mothers with secondary education (20.3%) and unemployed mothers (19.9%). Minimum dietary diversity is a proxy indicator for the nutrient content of a diet based on consumption of at least 5 of 10 food groups.¹ People who consume food items from at least 5 food groups are likely to consume at least 1 animal-source food and items from 2 or more of the fruit and vegetable food groups. In the NNS V, 70.2% of mothers met the minimum dietary diversity requirement with a higher prevalence in urban areas (74.8%) and Ulaanbaatar (77.5%). Conclusion: The prevalence of overweight and obesity in mothers of reproductive age is 46.2%, with the highest percentage of mothers with overweight and obesity being in rural areas (50.1%), which is 5.8 percentage points higher than that of urban mothers. 16.2% of mothers are anemic. Prevalence of Minimum dietary diversity among mothers is 70.2%. Food consumption is inadequate in mothers with the primary and secondary education, and in mothers in rural areas, and in poorest mothers or in mothers with the second and third wealth index. ¹FAO and FHI 360. 2016. Minimum Dietary Diversity for Women: A Guide for Measurement. Rome: FAO.