BACKGROUND. Sensorineural hearing impairment (SNHI) is the most common inherited sensory defect, affecting about 3 per 1000 children. More than 50% of these patients have a genetic cause (i.e. hereditary hearing impairment; HHI). Mutations in certain genes were noted to be extraordinarily popular in the deaf patients across different populations, making molecular screening feasible for these common deafness genes. One of the most important characteristics that we have learned concerning hereditary hearing loss is that common deafness genes and their mutations are usually different according to the ethnic background. As demonstrated in our previous studies performed in Taiwanese patients, the mutation spectrums of common deafness genes, such as the GJB2 gene and the SLC26A4 gene, are different from those in the Caucasian or even other Asian populations. These findings further underscore the indispensability of the collection of local data in terms of genetic counseling. In the collaborative project, we have successfully established a cohort of >100 hearing-impaired families, and clarified the genetic epidemiology of deafness in the Mongolian population. We identified several special deafness mutations such as GJB2 c.23+1G>A, c.559_604dup, and SLC26A4 c.919-2A>G, and our results revealed that Mongolian patients demonstrate a unique genetic profile in deafness as compared to other East Asian populations (paper in preparation). Meanwhile, by organizing a seminar at National Taiwan University Hospital in March 2017, we have transferred crucial concepts and techniques regarding how to perform genetic testing for deafness to the Mongolian colleagues. In the future, we plan to strengthen the mutual collaboration by expanding the clinical cohort and upgrading the genetic examination platform using the NGS techniques.

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: Children with developmental disabilities benefit from support in motor skills, sensory processing, cognitive development, and social skills. Mongolia has trained occupational therapists for a decade, with 37% specializing in pediatrics, but long-term therapy facilities remain limited. Aim: This study provides a case report on a child with developmental disabilities who received occupational therapy to evaluate improvements in sensory processing, social communication, and daily living skills. Materials and Methods: The study participants were purposively selected from children undergoing occupational therapy at the “Enerel” Child Development Center. Participant A is a 16-year-old male with hearing and speech impairments, as well as an intellectual disability. The initial assessment showed poor sensory processing and behavioral problems and communication difficulties. A tailored program incorporating sensory-based therapies, communication cards, and sign language was developed with caregiver collaboration. Occupational therapy was conducted five times weekly for 11 weeks. Pre and post test assessments included goal attainment scaling (GAS) and Sensory profile 2 (Child). Results: The participant showed improved communication using cards and sign language, better emotional regulation, enhanced sensory processing, and reduced hyperactivity to external stimuli. Goal Achievement (GAS) +2, meaning the goal was achieved better than expected and positive changes were found on the Sensory profile 2, with large effect sizes. Conclusion The study found that sensory- based occupational therapy and sign language training improved occupational performance and goal achievement in children with sensory, behavioral, and communication difficulties.

Background: According to WHO research, there are approximately 24 million people living with schizophrenia worldwide and schizophrenia is characterized by a combination of psychotic and non-psychotic symptoms. Since the cause of the disease is not fully understood, antipsychotic medications are used as symptomatic treatment. According to the 2022 statistics of the NCMH, 718 people with schizophrenia are being treated under active surveillance in Mongolia. The reason for conducting this study is that the manifestation of drug side effects resulting movement disorders in patients with schizophrenia, which has not been studied in Mongolia. Aim: To investigate the relationship between adherence of medication regimen and abnormal involuntary movements in patients with schizophrenia. Materials and Method: The study was conducted using a descriptive method, cross-sectional design, purposive sampling with the questionnaire and standardized tests. Ethical approval for this study was approved by the NCMH (№3/77 30th of January, 2023) and Research Ethics Review Committee of MNUMS (№2023/3-02). Each participant was asked to complete 5 groups of 36 questionnaires, and standard tests were used to assess patients’ adherence to medication regimens (Morisky scale) and abnormal involuntary movement scale (AIMS). The study was conducted between March and August 2023, and the results were summarized and analyzed using STATA 14 software. Results: The study included 209 patients with schizophrenia, aged 18-79 years, of whom 47.4% (n=99) were male and 52.6% (n=110) were female (p=0.21). Of the participants, 28.2% (n=59) had less than secondary education, 76.5% (n=160) were unmarried, and 85.2% (n=178) had a disability due to mental health. 32.5% (n=68) of the patients with schizophrenia in the study used a combination of typical and atypical medications, and the most commonly used antipsychotic drugs were haloperidol (30.6%), chlorpromazine (26.8%), levomepromazine (25.8%), risperidone (24.4%), and quetiapine (21.1%). 1.4% (n=3) of the patients had good, 52.6% (n=110) had moderate, and 45.9% (n=96) had poor adherence to the medication regimen (Cronbach’s α=0.781). However, according to the results of the test for assessing abnormal involuntary that are performed without self-control, 49.76% (n=104) responded that they felt more sensitive to facial and oral movements, and 44.5% (n=93) to limb movements. The patients’ adherence to the medication regimen was statistically significant with facial and oral movements (n=104; p=0.036) and general body movement disorders (n=94; p=0.05). Conclusion 32.5% of patients with schizophrenia were taking typical and atypical antipsychotics, and 45.9% had poor adherence to medication regimens and were more likely to exhibit clinical forms of abnormal involuntary movements, including facial (p=0.036) and general movement disorders (p=0.05).

Background: In recent years, the incidence of liver diseases due to complications of non-alcoholic fatty liver disease (NAFLD) has shown a significant upward trend in Southeast Asian countries. NAFLD is a hepatic disorder characterized by lipid accumulation in the microstructure of the liver in individuals who consume little to no alcohol. It is often associated with insulin resistance and is diagnosed when steatosis affects more than 5% of hepatocytes histologically, or when the fat signal intensity on MRI exceeds 5.6%, based on fat-to-water ratio measurements. In Mongolia, histological studies using frozen liver sections with routine and special staining techniques are limited, highlighting the necessity of this study. Aim: To determine and compare the degree of steatosis and fibrosis in frozen liver tissue samples of patients with NAFLD through histological analysis. Materials and Methods: This study was conducted at the the Department of Anatomy, School of Biomedicine and Bio medical Research Institute of MNUMS in collaboration with the Second State Central Hospital. Ethical approval was obtained from the Research Ethics Committee of MNUMS (Protocol No. 2024/3-06). All procedures adhered strictly to laboratory biosafety protocols. Participants were selected among patients undergoing elective laparoscopic cholecystectomy, from whom informed consent was obtained. Based on inclusion criteria, five participants were grouped as follows: healthy control (n=1), NAFLD without fibrosis (n=2), and NAFLD with fibrosis (n=2). Liver biopsies (approx. 1 cm in size) were obtained intraoperatively, immediately deep-frozen in liquid nitrogen, and prepared for histological evaluation. Results: In patients with NAFLD compared to the healthy liver group, disruption of hepatocyte columnar architecture and mild periportal lymphocytic infiltration were observed. Oil Red O staining revealed 34–66% micro- and macrovesicular steatosis, corresponding to grade 2 steatosis. Masson’s trichrome staining showed no fibrotic changes in perivenular or periportal areas (Ishak grade 0/4) at this stage. However, upon progression to grade 3 steatosis, early-stage fibrosis was observed in both perivenular and periportal regions (Ishak grade 1/4). Further progression to stage 4 fibrosis was characterized by the development of connective tissue septa, although no significant changes in droplet size were observed. Conclusions 1. Increasing stages of fibrosis are not directly influenced by the severity of hepatic steatosis in NAFLD. 2. Although the degree of steatosis increases, the absence of corresponding fibrotic changes in early stages indicates a complex progression pattern of NAFLD requiring further investigation.

Background: Hypokalemia is considered when the serum potassium level is less than 3.5 mmol/L. Clinical research indicates that hypokalemia affects 20% of hospitalized patients, and in 24% of these cases, inadequate interventions result in life-threatening complications. At present, there is no research available on the prevalence, management, and outcomes of hypokalemia in hospitalized patients, which justifies the need for this study. Aim: The study aimed to examine the prevalence of hypokalemia and the effectiveness of its management in hospitalized patients within the internal medicine department, in relation to the knowledge of doctors and resident physicians. Materials and Methods: This hospital-based retrospective study included a total of 553 cases of patients hospitalized in the Internal Medicine Department of the Mongolia Japan Hospital between January 2024 and August 2024. Patients with a potassium level of <3.5 mmol/L were diagnosed with hypokalemia, and the effectiveness of potassium replacement therapy was evaluated according to the method of supplementation employed. Results: The prevalence of hypokalemia among hospitalized patients in the Internal Medicine Department was 9.8% (54 cases). Based on the study criteria, 42 cases of hypokalemia were selected for further analysis, and a total of 118 potassium replacements were performed through oral, intravenous, and mixed methods. Following potassium replacement therapy, 37.3% (44) of patients achieved normalized potassium levels, while 62.7% (74) still had persistent hypokalemia. Conclusion According to the study results, the prevalence of hypokalemia among hospitalized patients in the Internal Medicine Department is 9.8%. The method of potassium replacement and the severity of hypokalemia do not impact the normalization of potassium levels, with the critical factor being the proper dosage of supplementation. The knowledge of doctors and resident physicians regarding hypokalemia is insufficient, and there is a need to implement guidelines and protocols for potassium replacement therapy in daily clinical practice.

BACKGROUND: Toll like receptors (TLRs) are a class of proteins that key role in the innate immune system. TLR7 is expressed on monocytes, macrophages and dendritic cells, T cell, B cell and eosinophiles. TLR7, originally identified as recognizing imidaquinoline, loxibrine, broprimine and ssRNA, ssRNA viruses such as vesicular stomatitis virus, influenza A virus and human immunodefiency virus. It is known that virus ssRNA affects signaling molecule of IFN-y. Objective: To determine gene and protein activation of IFN-y signal transduction by TLR7 ligand in the endothelial cells. MATERIAL: In study we used mouse aortic linear endothelial cell which is cultured (END-D) in 5% heat- inactivated fetal calf serum (FCS), medium (DMEM) containing antibiotic mix(penicillin G, streptomycin, amphotericin B) at 37°C (5% CO2). Endothelial cells treated with synthetic IFN-γ and imiquimodligands, then the NO (nitric oxide) concentration in the supernatant is determined by Griess reagent. Endothelial cells are cultured in 6 well cell culture plate and in each well 2*104cells are expected to be grown for 24 hours of culture. Then, the cells are treated with synthetic IFN-γ and имиквимод ligand for 6 hours and the NO signaling gene activation iNOS mRNA expression which is induced by IFN-γ is determined by RT-qPCR. Endothelial cells are cultured in 12 well cell culture plate and in each well 2*104 cells are expected to be grown for 18 hours of culture. Then, the cells are treated with synthetic IFN-γ and imiquimodligands for 24 hours and the NO signaling protein iNOS expression which is induced by IFN-γ is determined by western blotting. The experiment was conducted as representation mean of at least three test results. The difference between statistical probabilities is determined by the “Students” t test. The p<0.01 value is assumed to be statistically different. RESULTS: TLR7 ligand imiquimodaugmented interferon gamma induced nitric oxide production TLR7 ligand imiquimodincreased interferon gamma induced iNOS mRNA gene expression. TLR7 ilgand imiquimodup-regulated interferon gamma induced iNOS protein expression. CONCLUSIONS: TLR7 ligand imiquimod augments IFN-γ signaling in the endothelial cells. This synergistic effect has revealed in the levels of gene and protein expression.

Introduction: Toll like receptors (TLRs) are a class of proteins that key role in the innate immune system. The SOCS1 and SHP2 proteins are negative-feed loop inhibitors of signaling of JAK/STAT and TLRs pathways. Purpose: To determine negative regulator protein activation which is activated through TLR7 ligand/IFN-γ signal transduction in endothelial cells. Methods: We used mouse aortic linear endothelial cell (END-D); protein expressio was detected by western blotting Results: We analyzed a time dependent stimulation effects of negative regulator proteins stimulated by TLR7 ligand/IFN-γ in endothelial cell cultures. Imiquimod of 10 μg/ml treatment of 1 hr was followed by 100 ng/ml IFN-γ stimulation for 1-8hr to analysis of negative regulator SOCS1 and SHP2 protein expression.
In untreated cells, there was low activations of negative regulator SOCS1 and SHP2 proteins. IFN-γ stimulation alone had increased SOCS1 and SHP2 protein expressions, also imiquimod treatment highly elevated SOCS1 and SHP2 expressions. However imiquimod and IFN-γ doubled treatment have decreased activation of negative regulator SOCS1 and SHP2 proteins. These findings suggest SOCS1 and SHP2 proteins are inhibitors in the TLR7 ligand/IFN-γ signaling. Conclusion Negative regulators, SOCS1 and SHP2 strongly suppressed activations of TLR7 ligand/IFN-γ signaling

Introduction: The aim of this research project is to elucidate the crosstalk of innate and adaptive immune reactions against the DNA containing bacteria. : This study held in the Core laboratory, Science Technology Center, Mongolian National University of Medical Sciences (MNUMS). Murine aortal endothelial cells, END-D cultured and the cell viability checked by MTT assay. In addition, the NO production, protein and gene expression studied by Griess Reagent assay, R.T-PCR and immunoblotting, respectively. Results: 0.1µM, 1µM and 10µM of TLR9 ligand exhibited no cytotoxic action against the cells by MTT assay. IFN-ү alone induced NO production in END-D cells. In the other hand, TLR9 ligand at 0.1µM, 1µM and 10µM up-regulated IFN-ү induced NO production in dose dependent manner. RTPCR results exhibit that TLR9 ligand up regulates iNOS mRNA. Immunoblotting analysis showed the enhanced iNOS protein expression and phosphorylation of STAT1 in cells pre-treated with TLR9 ligand. Discussion: We have demonstrated CpG DNA, TLR9 ligand, up-regulates IFN-ү induced NO via enhanced IFN-ү signaling. The result of Western Blotting and RT-PCR support the up-regulation of NO. CpG DNA can be used as agent against virus and bacteria. Further research need to be conducted. Conclusion TLR9 ligand, CpG DNA up-regulates IFN-ү induced NO production in time and dose dependent manner. TLR9 ligand augments the expression of iNOS mRNA and STAT1 phosphorylation in response to IFN-ү.

Introduction: When human body encounters external pathogens primary/innate immunity cells are activated by recognizing them and secondary/adaptive immunity is activated consecutively. In our previous study, we revealed that there is a synergistic action between TLR9 and IFN-γ signaling in the endothelial cells. Purpose: To determine the role of negative and positive regulator proteins on the IFN-γ/TLR9 signaling pathway. Methods: In this study, murine endothelial cell (END-D) culture was used. END-D cells pre-treated with TLR9 ligand CpG DNA and then stimulated with IFN-γ. The negative (SHP-2, SOCS1, PIAS1) and positive (p38) regulator protein expression was detected by Western blotting. Results and Conclusion Treatment by TLR9 ligand CpG DNA and IFN-γ increased positive regulator p38 phosphorylation in 0.5 hour. CpG DNA inhibited IFN-γ negative regulator PIAS1 protein expression in 6 hour and SOCS1 and SHP-2 expression could not affect in 4 hour.