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: The COVID-19 pandemic has placed an extraordinary strain on healthcare systems worldwide, underscoring the need for evidence-based pharmacotherapy and rational use of medicines. Despite the availability of international and national treatment guidelines, notable variations in drug selection and utilization persist across healthcare institutions. Evaluating medication use according to clinical severity is vital for ensuring therapeutic rationality, improving patient outcomes, and optimizing pharmaceutical resource management. Aim: The aim of this study was to assess medication use and associated costs among inpatients diagnosed with COVID-19 at the Mongolia–Japan Hospital of MNUMS and the National Center for Communicable Diseases through ABC analysis Materials and Methods: : A retrospective, document-based study was conducted at the Mongolia-Japan Hospital (MJH) and the National Center for Communicable Diseases (NCCD) in Ulaanbaatar. Medical and pharmacy records of 1,012 inpatients diagnosed with COVID-19 between April 18 and December 31, 2021, were reviewed. Drug utilization was assessed using the ABC analysis method, classifying medicines based on their proportional contribution to total pharmaceutical expenditure. Comparative analyses were performed to identify differences in utilization patterns between hospitals and across clinical severity levels. Results: Of the total pharmaceutical expenditure for COVID-19 treatment, six medicines (4.5% of all drugs) were categorized as Class A, accounting for 69.7% of total costs. Class B included seven medicines (7.0%, 19.5% of total costs), while Class C comprised twenty-six medicines (88.6%, 10.6% of total costs). Remdesivir 100 mg injection, a Class A drug, represented 18.5% of total drug expenditure at MJH (used in 78 patients) and 36.2% at NCCD (used in 133 patients). Overall, approximately 70% of total expenditure was concentrated in a small number of high-cost medicines, indicating potential inefficiencies in pharmaceutical resource utilization. Conclusion This study demonstrates that a limited number of high-cost medicines, particularly Remdesivir, accounted for the majority of COVID-19 treatment expenditures. Strengthening evidence-based prescribing, rational selection, and monitoring of high-cost drugs is essential to enhance resource efficiency, ensure equitable access, and sustain hospital pharmaceutical care systems during pandemic response and beyond.

Background: A drug related problem is defined by the Pharmaceutical Care Network Europe Association as an an event or circumstance involving drug therapy that actually or potentially interferes with desired health outcomes. One critical aspect of preventing such errors is proper dose adjustment, which plays a vital role in the diagnosis and treatment of disease. For instance, adjusting the dose of warfarin based on the patient’s INR level is essential. In a 1995 study conducted in England, clinical pharmacists recommended target doses of angiotensin-converting enzyme (ACE) inhibitors for patients with chronic heart failure. As a result, patients experienced a significant reduction in pulmonary and peripheral edema, along with improved exercise test outcomes. At the Mongolian-Japanese Hospital of the Mongolian Medical University of Science and Technology, it is important to analyze dosage-related issues identified by clinical pharmacists and inform healthcare professionals about common dosage selection errors and associated risks. Aim: We analyzed issues related to medication dosage. Materials and Methods: A retrospective study was conducted to examine problem related to dosage detected through prescription monitoring at the Mongolian Japanese Hospital of the Mongolian National University of Health Sciences from 2023 to 2024. Results: Out of a total of 2340 drug-related problem identified across five inpatient wards during this period, 581 (100%) were related to dosage. Clinical pharmacists performed prescription review on approximately 67% of all inpatients, which was consistent between years. However, medication-related problems tended to decrease from 41.1% (n=1499) in 2023 to 22.3% (n=841) in 2024 (p=0.05). The majority of dose-related problems, 75.6% (n=440), were overdoses. Medication-related problems were most common in the surgical department, with 59.5% (n=346) (p=0.001). The most frequent dosage-related errors involved exceeding the daily dose of diclofenac, administering higher- than-recommended doses of ceftriaxone, failing to adjust cefotaxime for renal function, and using inappropriate doses of metronidazole in patients with impaired liver function. The leading cause of these errors was failure to adhere to guideline-recommended dosing, which accounted for 71.3% (n=415) of cases (p=0.001). When dosage-related recommendations were provided to physicians before of treatment, acceptance rates increased by 14% (p=0.001). These interventions resulted in an estimated cost saving of 1.267.219₮ and a reduction of 363 injections. Conclusion Therefore, clinical pharmacist-led prescription review can help reduce the risk of dosage errors, lower associated healthcare costs, and alleviate the burden on medical staff.

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: 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.

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

Abstract To study adverse drug reactions registered in 2010-2012 in Mongolia. This study has descriptive design. 280 yellow forms for recording adverse drug reaction, which were registered by the Drug assurance department of the Department of Health-Implementing Agency of the Government, were used. Yellow forms were from 2010- 2012. Statistical analysis was performed in SPSS 17.0. More than half of cases (51%) of drug adverse reaction were in people over 41 years old. Psychotropic medications and antibiotics were the most drugs with adverse reaction having 31.1% and 27.1% respectively. The common adverse reactions were dysfunctions of central nervous system (38.6%), skin rashes (22.5%), dysfunctions of digestive system (11.1%), allergic reactions (7.9%) and other symptoms (15.5%). In 4% of cases the symptoms were not described. Countries of production of medications causing drug reactions were Russia in 26.1%, China 13.2%, Моngolia 12.2%, India 11.4%, Indonesia 3.2% and other countries in 15.3%. In 18.6% the country was not recorded. In 18.9%, 16.4% and 9.6% of reactions were from tablets, intramuscular injections and drippings. The forms filled in by the patients in 31% did not have their names, and in 48% there were no records on reasons for taking medicines. Conclusion Psychotropic medications and antibiotics were the most drugs with adverse reaction. The common adverse reactions were dysfunctions of central nervous system, skin rashes and dysfunctions of digestive. Adverse drug reactions were identified insufficiently and forms for recording the adverse reactions were filled incompletely and incorrectly.