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: Mongolia’s capital hosts about half the country’s total population, and its air pollution ranks among the highest in the world during winter. Air pollution is linked to reduced fetal growth, preterm birth, low birth weight, impaired cognitive intra-uterine development, impaired cognitive development, and even spontaneous abortion. Antenatal care includes fetal development monitoring, prevention of anemia, immunization against infectious diseases, prevention of sexually transmitted diseases, and any health risk factors such as environmental pollution.
Health care measures for pregnant women and children under one year of age have the potential to be highly effective because they are directly aimed at reducing pneumonia in children. As such, we need to conduct this survey to determine whether pregnant women were satisfied with the information and advice on air pollution prevention provided by health facilities and to take evidence-based measures. Materials and Methods : The survey data were collected using quantitative and qualitative research methods. In this study, a total of 958 pregnant women participated from Songinokhairkhan district, Bayanzurkh district, and Bayankhongor province center. The overall satisfaction of health services is calculated using the three dimensions namely: satisfaction with health service, operation, and environment of the Health Organization. Satisfaction scores were assessed using an even-point scale. These are “Very Dissatisfied-1 point”, “Dissatisfied-2 point”, “Satisfied-3 point”, “Very satisfied-4 point”. The results were calculated after entering the survey data into SPSS-23, creating a database, and performing error control. The research methodology was discussed at the meeting of the Academic Council of the National Center for Public Health on December 25, 2019, and the methodology was approved by the Medical Ethics Committee of the MOH (Stagnant №2). Results : The survey covered 958 pregnant women aged 16-45 in Bayanzurkh district Songinokhairkhan district, and Bayankhongor province. During antenatal care visits, the majority of pregnant women (BZD- 56.9%, SKHD- 68.3%, BKH province - 86.7%) were advised by their health specialists to go outside for fresh air, while women in Ulaanbaatar (BZD- 18.9%, SKHD- 24.7%) received the information and advice at the lowest percentage. Pregnant women in Ulaanbaatar were less involved in air pollution training than in Bayankhongor. Participants in the air pollution prevention training rated it as “satisfied” regardless of location. 37.2% of pregnant women obtained information on protecting their health from air pollution from the board of Family Health Center and 34% from their district health centers. 86.1% of the participants were able to obtain information on air pollution on their own, while 86% of them got information from their family and friends. Conclusion The percentage of pregnant women getting medical advice, training, and information on air pollution prevention from hospitals during their antenatal care visits was the highest in rural areas. Moreover, their level of satisfaction with counseling had been rated as “satisfied”. Pregnant women often seek information on air pollution prevention from non-professional sources, such as their family and friends.

Clinical characteristics differences and risk factors of coronavirus disease and influenza in children 0-18 years Background: In worldwide, 176190 children infected with SARS-CoV-2 during April of 2020. According 01/09/2021, 46019 children had diagnosed with COVID-19 in Mongolia, were 19.5% of all cases. During COVID-19 infection, respiratory and digestive symptoms were commonly presented in children. Although the symptoms of coronavirus disease in children and adults are similar, in general, it was relatively mildly than adults, but from clinical observations reported that the infection occurs more severely in children and leads to death. During the coronavirus pandemic, it has been reported that children have Kawasaki syndrome, cardiac myopathy, coronary artery changes, and digestive system problems. Cardiac dysfunction in children may have recovered without sequelae, and further long-term follow-up studies are necessary. We aimed study clinical characteristics differences and risk factors of coronavirus disease and influenza in children 0-18 years. Materials and methods: The study was conducted Children hospital of NCMCH from October 01, 2021 to April 01, 2022, participated 594 inpatients with COVID-19 and influenza, and studied clinical characteristics, laboratory and functional diagnostic changes, treatment, and complications of the coronavirus disease and influenza. Results: The study included 450 children aged 0-18 years with confirmed COVID-19 infection and 144 children with influenza. In social-demographic indicators, the mean age of children is 4±4.8 years, and 58.6% are male. Children age group included 0-4 ages, 5-9 ages, 10-15 ages and over 15 ages (62.4%, 17.5%, 16.2%, and 3.7%), respectively. As for influenza, 39.7% were children aged 0-9. In 8 cases, they received the COVID-19 vaccine but became ill with COVID-19. As for the variants of COVID-19 infection, 231(41.8%) alpha, 219(48.0%) delta, and 144(24.2%) influenza according to the wave period and clinical differentiation. In severity of diseases, 2(0.4%) were mild, 312(69.3%) were moderate, 117(26.0%) were severe, and 17(3.8%) were critical severe. There is a statistically significant difference in the severity of the disease between COVID-19 and influenza. 1 death (0.4%) occurred in cases of COVID-19. The mean days of inpatients with COVID-19 was 12.4±5.5 and mean days of inpatients with influenza 8.6±3.64. When assess signs of children, fever, cough and food aversion were main signs among both group of alpha and delta varientin COVID-19. Specifically, 67.3% had fever, 63.3% cough, 16.4% runny nose, 8% chest pain, 10.2% headache, 15.5% fatigue, and 0.9% decreased sense of taste and smell. There is a statistically significant difference (p<0.000) in the symptoms of cough, chest pain, general toxication symptoms and decreased sense of taste and smell in the case of COVID-19 and influenza. During influenza, symptoms of chest tightness and respiratory distress were observed in 10 (7.4%) children during severe illness. 0.5% of all cases of COVID-19 with sinus arrhythmia, and atrioventricular block were detected 0.9% of all cases by electrocardiogram analysis. When studying the underlying medical conditions of children in relation to the complications of COVID-19 and influenza, children diagnosed with heart defects, malnutrition, weakness, anemia, cerebral palsy, and other chronic diseases have a greater impact on the severity of the disease of COVID-19 than those with influenza. In the study of the factors affecting the severity of the COVID-19 infection, the child's age and gender did not have an effect, while the presence of a heart defect in the child increased the risk of complications by 5 times (p<0.001). Conclusions: Among 0-4 aged children with COVID-19 are occurred more hospitalization, brightly presented symptoms in children with chronic diseases, are being more severe and hospitalization days are more than in children with influenza. Symptoms of fever, cough, and runny nose are more common in children during flu and influenza, while headache, abdominal pain, dehydration, and reduced sense of taste and smell are significantly more common in the case of COVID-19. On the other hand, symptoms of chest pain, weakness, and fatigue were found in the 2 groups. The comorbidities (congenital cardiac anomalies, malnutrition, weakness, anemia, cerebral palsy, and other chronic diseases) are being risk factors for the severity of coronavirus disease.

Introduction: Within the framework of health sector reform, the development of the organization, the responsibility of doctors and medical professionals, and the improvement of ethics, quality and safety of care and services are top priorities. Customer satisfaction is important for the implementation of this operation based on results and quality. The WHO Recommendation states that health professionals have a key role to play in providing information and advice to citizens and their families on how to prevent, mitigate and address air pollution, and how to inform the general public and decision-makers. ADB, the Ministry of Health, and UNICEF report that information and promotional materials on air pollution prevention are scarce and do not provide advice to clients. Therefore, it is the reason for conducting a survey to determine the level of satisfaction of clients receiving child health care. Materials and methods: The survey data were collected using quantitative and qualitative research methods. In this study, totally 1160 guardians of children aged 0-5 participated from Songinokhairkhan and Bayanzurkh district and Bayankhongor aimag center. The overall satisfaction of health services is calculated using the three dimensions namely: satisfaction with health service, operation and environment of Health Organization. Satisfaction scores were assessed using an even-point scale. These are “Very Dissatisfied-1 point”, “Dissatisfied-2 point”, “Satisfied-3 point”, “Very satisfied-4 point”. The results were calculated after entering the survey data into SPSS-23, creating a database, and performing error control. Research methodology discussed at the meeting of the Academic Council of the National Center for Public Health on December 25, 2019, and the methodology was approved by the Medical Ethics Committee of the MOH (Stagnant №2). Results: 84.7 percent of the respondents were parents of children aged 0-5 years. Their average age is 34, most of them have higher education, and 43.0 percent of them have a household income of 500,000-1 million MNT. Guardians of children aged 0-5 years in Bayanzurkh District were “dissatisfied” with the Family Health Center’s dressing room, wardrobe, toilet and parking lot. Guardians of children aged 0-5 years in Songinokhairkhan district were “dissatisfied” in the parking lot and toilet of the health organization. Guardians of children aged 0-5 years in Bayankhongor aimag were satisfied with the services, operation and environment of the health organization. Studies have shown that 76.5 percent of the guardians did not receive air pollution risk training. As for difficulties in preventing air pollution, 31.4 percent of the surveyed population answered that they cannot change their living and working environment to prevent air pollution. Conclusion It shows the health care organizations need to improve the hospital environment as well as to provide training how to protect children from air pollution risk for guardians.

Background: Stroke is one of the leading causes of mortality and disability worldwide. Understanding sex differences in risk factors, clinical characteristics and death after stroke might provide valuable evidence for prevention and management of stroke. Aim: We aimed to describe sex differences in risk factors, clinical characteristics and death after intracerebral hemorrhage (ICH) and ischemic stroke (IS) using hospital-based registry in 6 districts of Ulaanbaatar, Mongolia. Materials and methods: We used hospital-based stroke registry in Ulaanbaatar Mongolia. From 2019 to 2020, total of 974 patients with acute ICH and 1612 patients with acute IS were enrolled in this study. The severity of stroke was measured by National Institutes of Health Stroke Scale (NIHSS) and Glasgow Coma Scale (GCS). Risk factors for stroke were defined as patient’s history and their medical record. Death after stroke was registered at 28 days and 90 days by follow-up study. A comparison of categorical and continuous variables was analyzed using chi-squared test, Student’s t-test and Mann Whitney U test. Univariable and multivariable logistic regression analyses were also performed. Results: The mean age of ICH patients was 58.41±11.56. There was significant difference in age (59 vs 57, p=0.009) between women and men. Men with ICH were more likely to drink alcohol (35.4% vs 5.2%, p=0.000) and to smoke (37.0% vs 8.4%, p=0.000) and to have arterial hypertension (72.7% vs 58.6%, p=0.000). However, there were no significant differences in other risk factors including atrial fibrillation, diabetes mellitus, prior stroke and other cardiac diseases. There were no sex differences in clinical characteristics including systole and diastole blood pressure, NIHSS scores and GCS. In our study, case fatality rate was 23.8% at 28 days and 1.9% at 90 days after ICH. By multivariable regression analyses, there were no significant association between sex and death at 28 days and at 90 days (OR:0.74; 95% CI:0.52-1.06, OR: 0.80; 95% CI:0.29-2.21).
The mean age of IS patients was 61.07±12.88. The women were older (63 vs 59, p=0.000) than men. Men with IS also were more likely to be current smokers (37.6% vs 9.0%, p=0.000), current drinkers (33.2% vs 3.4%, p=0.000) and to have arterial hypertension (74.7% vs 65.9%, p=0.000). There were no significant differences in other risk factors. For IS patients, there also was no sex difference in clinical characteristics. Case fatality rate was 13.3% at 28 days and 1.1% at 90 days after IS. By multivariable regression analyses, there were no significant association between sex and death at 28 days and at 90 days (OR:0.90; 95%CI: 0.64-1.26, OR:5.16; 95%CI: 0.99-23.9). Conclusion Our study showed sex differences in some vascular factors of both stroke subtypes which emphasized that we need to implement stroke prevention targeting sex-specific risk factors. While clinical characteristics and early mortality of intracerebral hemorrhage and ischemic stroke were not differed by gender.

Background: Globally the incidence of stroke is not decreasing, and the deaths and disabilities caused by stroke is increasing every year, especially in low and low-middle income countries.
Long-term trends in stroke incidence in different populations have not been well characterized, largely as a result of the complexities associated with population-based stroke surveillance.
Having reliable data on stroke morbidity and mortality, as well as periodic identification of long-term trends will be important information for proper prevention planning in the population, monitoring the disease and further improving the quality of health care. Material and Method: A prospective cohort study has been conducted in adult citizens (972409 in 2019, 925367 in 2020) of 6 districts of Ulaanbaatar from the 1st of January, 2019 to 31st of December, 2020. All first-ever and recurrent stroke cases were included using special software, developed for stroke registry, based on the WHO STEPS approach from participating radiology departments of state hospitals, district hospitals, and some private hospitals. Information of stroke death was obtained from forensic institute and state registration office of the capital city.
The trends of stroke incidence and mortality was compared to data between 1998-1999 and 2019- 2020 in UB. Results: The age-standardized crude incidence rate per 100.000 person-years of stroke were 209.0/100.000 (n=1934) in 2019 and 194.0/100.000 (n=1821) in 2020 among adults of UB city. The above results were compared to 1998-1999 studies and the incidence rate declined by 94.0/100.000 in 2019-2020, whereas mortality rate increased by 10.0/100.000 in women aged 16-34. Stroke mortality was 11.6% in 1998 and 26.5% in 1999, while in our study it was 33.87% in 2019 and 29.71% in 2020. Although the incidence of stroke rates has decreased in 1998-1999, the mortality rate has not decreased significantly. Conclusion Morbidity and mortality rates among the population of Ulaanbaatar citizen remain highest in the world, compared to 20 years ago with overall morbidity declining but mortality has not decreased.
In recent years, the Government of Mongolia has been focused on reducing non-communicable diseases, but the primary and secondary prevention and control of stroke in the general population, as well as the acquisition of knowledge attitudes, practices and access to health care still need to be improved.

The study of clinical and epidemiological characteristics of coronavirus infection in children ages 0-18 Introductions: The coronavirus disease (COVID-19) has been spreading in Wuhan, Hebei Province, China since late 2019, and was declared a pandemic by the World Health Organization on March 11, 2020. Since the outbreak of the pandemic, the SARS-CoV-2 virus has been constantly mutating, and several new variants have emerged, dominating the world. These variants are characterized by differences in transmission, toxicity, and pathogenicity. Due to the lack of research on pediatric COVID-19 in Mongolia. Our goal was to study the symptoms and severity of children with COVID-19 and to compare clinical characteristics between Alpha and Delta of SARS-CoV-2 occurred in children. Material and methods: Clinical characteristics, laboratory and diagnostic test results of 450 children aged 0-18 years, confirmed by laboratory tests from March 30, 2021 to December 1, 2022 in the Isolation Department of COVID-19 infected children of the NCMCH, treatment and complications were studied retrospectively. Result: The study involved 450 children aged 0-18 years with laboratory-confirmed COVID-19 infection. According to the demographic variables, 263 (58.4%) boys and 189 (41.6%) girls. In terms of age group, 62.4% were aged 0-4 years, 17.5% were aged 5-9 years, 16.2% were aged 10-15 years, and 3.7% were children over 15 years old. Of these children, 231 (51.3%) were clinically confirm signs of alpha and 219 (48.7%) delta variant. In 8 cases, COVID-19 was vaccinated but became infected. Clinical features of alpha-type physical examination were 117 (51.6%), pale face and paleness (29.6%), and respiratory distress (40.0.0%). Clinical features of delta-variant bruising, pallor, and chest depression were predominant on physical examination. Conclusion: COVID-19 In children with alpha and delta variants, the most common symptoms of respiratory viral infections, such as fever and cough, were respiratory distress in alpha variant and respiratory and circulatory abnormalities signs in delta variant.

Background: Stroke is still one of the leading causes of morbidity and mortality worldwide. Registry-based data of stroke are scarce in low and middle-income countries such as Mongolia. We aimed to investigate the incidence and mortality of stroke in adult population of UB Mongolia by stroke registration method. Material and Method: Covering 611265 (≥15 years old) adult citizens of three districts of Ulaanbaatar, a population-based prospective study was done from the first, January of 2019 to 31st, December of 2019. All first-ever and recurrent stroke cases were included using special software, developed for stroke registry, based on the WHO STEPS approach from participating radiology departments of state hospitals, district hospitals, and family clinics. Information of stroke death was obtained from forensic institute and state registration office of the capital city. Results : In a 1-year study period, 1068 (women 39.1%) stroke cases were registered in people with 60.16±13.66 years old. Stroke incidence rate was 169.81/100000 including first-ever and recurrent events. Stroke incidence rate was higher in men and people with 80 and above years old. The ratio between IS and ICH was 1.14:1.0. Stroke mortality was 27.1% and mortality rate was 45.94/100000. The highest rate mortality was in ICH subtype, male population and older people. Conclusion We identified relatively high incidence and mortality rate of stroke in ICH indicating an urgent need for improvement of arterial hypertension control, health education and primary prevention mainly among men.

Background: Pneumonia is one of the leading causes of morbidity and mortality in children around the world. Annually, it’s estimated about total of 120 million cases of pneumonia occur in children under the age of five around the world and about 2 million of them end in mortality. In 2017, respiratory diseases constituted 31.3% of all diseases in children under the age of five in Ulaanbaatar city. 268 cases of respiratory diseases occur in every 1000 children, making it the leading disease in children of that age group. Sonographic examination has several advantages including lack of radiation, accessibility, portable (can easily bring it next to the patient’s bed), cost effective, and can be used repeatedly on the patients. To our knowledge, currently in Mongolia, there are no published research materials on sonographic examination in children with pneumonia. Given, the lack of study, increased rate of pneumonia and advantages of ultrasonographic, the present study was performed to detect lung ultrasound sign of pneumonia and determine the specificity and sensitivity of lung ultrasound and X-ray. Methods: The study used cross-sectional studies of analytical study. 379 inpatient children aged between 1 month to 14 years old who are in the children’s hospital of Bayangol district between 1st of September 2019 to 1st of December 2019 participated in the study. Procedures included collection of questionnaires from the parents or the guardians, random collection of data from the patients’ history, and assessment of results from ultrasound and X-ray examination. The study used Stata software to analyze the statistics. Results: 56% or 210 cases showed decreased echogenicity in the ultrasound examination. Incorporated B line sign (р=0.001),, decreased echogenicity in the consolidation (р=0.001), and presence air positive bronchus (р=0.001), are shown to the major sign of pneumonia in ultrasound examination. Conclusions In pneumonia, following signs are present in lung ultrasound: Unilateral B-lines, consolidation, hypoechoic, irregular shaped consolidation, positive air bronchogramm sign in lung. From the results of our research, we discovered diagnosis sensitivity of pneumonia in ultrasound is 85%, specificity of pneumonia in ultrasound is 87%, sensitivity of pneumonia in Х ray is 78%, specificity of pneumonia in Х ray is 84%.

The result of endovascular surgical treatment of congenital heart disease Background: Over the last 10 years the advances in catheter based interventions for congenital heart disease(CHD) include new procedures, devices and almost 25% of all CHD are now can be treated by endovascular surgery. The purpose of this report was to evaluate the outcome and result of endovascular surgeries for congenital heart disease. Materials and methods: The study included all cases of endovascular surgeries at the National Center for Maternal and Child Health the period of 2014-2019. Results: Total 631 cases had intervention procedures and 377 (59.7%) cases had endovascular surgeries for CHD. 268 patients had patent ductus arteriosus device closure successfully while 57 had pulmonary artery valvuloplasty using balloons. Also 76 patients had device closure of atrial septal defect and 4 patients had device closure of ventricular septal defect using new multifunctional occluder. Another 20 patients had severe coarctation of aorta and had balloon dilatation and stenting as a life saving procedure. Conclusions: Endovascular surgery for CHD is a safe and effective alternative to open heart surgery.