1.Outcomes of identifying enlarged vestibular aqueduct (Mondini malformation) related gene mutation in Mongolian people
Jargalkhuu E ; Tserendulam B ; Maralgoo J ; Zaya M ; Enkhtuya B ; Ulzii B ; Ynjinlhkam E ; Chuluun-Erdene Ts ; Chen-Chi Wu ; Cheng-Yu Tsai ; Yin-Hung Lin ; Yi-Hsin Lin ; Yen-Hui Chan ; Chuan-Jen Hsu ; Wei-Chung Hsu ; Pei-Lung Chen
Mongolian Journal of Health Sciences 2025;87(3):8-15
Background:
Hearing loss (HL) is one of the most common sensory disorders,
affecting over 5-8% of the world's population. Approximately half of HL cases are
attributed to genetic factors. In hereditary deafness, about 75-80% is inherited
through autosomal recessive inheritance, and common pathogenic genes include
GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading
cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged
vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646).
DFNB4 is characterized by sensorineural hearing loss combined with EVA or less
common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to
thyroid goiter. Currently, it is known that EVA is associated with variants in the
SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant
mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and
c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G
in Han Taiwanese and Han Chinese. On the other hand, there has been no study
of hearing loss related to SLC26A4 gene variants among Mongolians, which is the
basis of our research.
Aim:
We aimed to identify the characteristics of the SLC26A4 gene variants in
Mongolian people with Enlarged vestibular aqueduct and Mondini malformation.
Materials and Methods:
In 2022-2024, We included 13 people with hearing loss
and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea
with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National
Taiwan University Hospital.
Results:
Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic
SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19%
(5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8%
(2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C
(p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years
old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4:
c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing
loss.
Conclusions
1. 26 variants of bi-allelic SLC26A4 gene mutation were detected
in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was
the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A
(p.V239D) were detected.
2. Our study shows that whole-exome sequencing (WES) can identify gene
mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.
2.Treatment of miniere’s disease (icd-10 h.81) using traditional medicine and therapeutic interventions: Case report
Undarmaa B ; Tserendulam G ; Oyun-Erdene U ; Oyunnyam Ch ; Nasankhishig D ; Khaliun E ; Tsegmed G ; Oyunbileg Yu ; Enkhtuya V
Mongolian Journal of Health Sciences 2025;87(3):72-74
Background:
Meniere's disease is a condition caused by disturbances in the
auditory and vestibular systems. It is characterized by symptoms such as dizziness,
nausea, vomiting, and tinnitus. In the United States, the prevalence of
Meniere's disease has been found to be 84 cases per 100,000 women and
56 cases per 100,000 men. Regionally, it is more common in less populated
areas, and research has confirmed that the prevalence increases with higher
household income.
Aim:
To evaluate the effectiveness of traditional medicine treatments and therapies
for Meniere's disease.
Results:
The patient is a 43-year-old male, with symptoms of dizziness, vomiting,
and tinnitus. Since 2023, he has sought care at the Central Hospital of
Mongolian Medicine, where he received traditional medicine treatments including
herbal therapy and other traditional therapies on three occasions. As a
result, the frequency of dizziness has decreased and other clinical symptoms
have improved.
Conclusion
Traditional medicine treatments have been shown to be effective
in managing Meniere's disease by extending the interval between relapses,
improving quality of life, and significantly reducing clinical symptoms.
3.Determining antibiotic susceptibility and multidrug resistance of the pathogens isolated from wound infection
Altantsetseg D ; Tserendulam B ; Nomiundari E ; Lkhagvadorj D ; Gerelmaa Ts ; Undarmaa S ; Dagvadorj Ts
Mongolian Medical Sciences 2024;210(4):3-8
Introduction:
Antimicrobial Resistance (AMR) has emerged as a significant public health and economic
issue worldwide, affecting both developed and developing countries. Our research has been
motivated by the increasing prevalence of carbapenem-resistant P. aeruginosa, A.baumannii,
and K. pneumonia in recent years.
Goal:
To determine antibiotic susceptibility of the pathogens isolated from wound infection and to
detect its multidrug resistance.
Material and Method:
Samples were collected from patients with wound infections. Pathogens were identified
by using the traditional culture methods and the API system with serotypes determined
phenotypically. Antibiotic susceptibility was assessed using the disk diffusion method and
the MIC to analyse antibiotic resistance.
Results:
In the study, among 11,221 recorded cases of wound infections in 2023, bacterial pathogens
were detected and identified at the species level in 10,339 cases (92.1%).
For identification results showed that A. baummannii were detected from 138 cases (1.3%),
216 cases (2.08%) of Ps. aeruginosa, 5 cases (0.04%) of B. cepacia, 1,383 cases (13.4%)
of Enterobacteriaceae, 205 cases (2.0%) of Enterococcus spp., 8,329 cases (80.5%) of
Staphylococcus spp., and 63 cases (0.6%) of Streptococcus spp.
Antibiotic susceptibility of these bacteria was assessed and determined multidrug
resistance. We found the followings: For A. baumannii were resistant with MDR in 68 cases
(49.3%), MRSA in 4,243 cases (51.1%), MDRSta. aureus in 1,805 cases (29.4%), VRE in
34 cases (16.5%), ESBL in 4.6%, KPC in 26 cases (11.1%), FRNF in 24 cases (11.6%), and
CRPA in 13 cases (6.3%).
Conclusion
1. Of all wound infections reported in 2023 in 92.1% there were detected pathogenic bacteria,
of which S.aureus were in 80.5% and E. coli was in 13.4%
2. 60.7% of the pathogenic bacteria detected in wound infections were multidrug-resistant,
with MRSA accounting for 51.1% and MDR A.baumannii accounting for 49.3%, indicating
high antimicrobial resistance(AMR).
4.Some technological studies on obtaining granular drug formulation from “Shimshin-6” traditional prescription
Narankhuu M ; Tserendulam L ; Altansukh Ts ; Lkhaasuren R ; Tserendolgor B
Mongolian Pharmacy and Pharmacology 2022;20(1):21-24
Introduction:
Amenorrhea has still been listed as one of common diseases among women in Mongolia. Some traditional prescription for amenorrhea, used commonly in Mongolian traditional medicine, needs more attention to dig out its scientific proof of therapeutic effect on pathogenesis of some diseases. Therefore, we aimed to research Shimshin-6 traditional prescription to develop a granule formulation for amenorrhea and other female reproductive diseases, and study its qualitative and quantitative characteristics.
Material and method:
In this study, Shimshin-6 traditional prescription was randomly collected from 5 pharmaceutical manufacturers named as “Х-1, Х-2, Х-3, Х-4 and Х-5”. The collected prescriptions were granulated and optimized by a wet-granulation method. Then, granule spill weight and flow quality were detected in obtained granule formulation.
Result:
20 types of granule formulation from Shimshin-6 were obtained by using 8% and 10% of gelatin, 6% and 8% of polyvinylpyrrolidone as a binder in these formulations. As a result, the suitable binder in this formulation was detected 6% of polyvinylpyrrolidone after researching the granule spill weight and flow rate. For the granule formulations of X-1, X-2 and X-5 prescriptions, the polyvinylpyrrolidone was chosen as the suitable binder due to the result from granule spill weight of the formulation. As for the X-3 and X-4 prescriptions, gelatin was the suitable binder in these formulations. After studying the flow quality of newly obtained granule formulations from “Х- 1, Х-2, Х-3, Х-4 and Х-5”, the most suitable binder was polyvinylpyrrolidone.
Conclusion
Altogether, these results showed that the most suitable binder for granulating Shimshin-6 traditional medicine was 6% of polyvinylpyrrolidone due to the results from granule spill weight and flow rate.
5.Assessing children with disabilities using who international classification of functioning (ICF)
Norovnyam P ; Tserendulam N ; Oyunkhand E ; Tuul O ; Amarjargal O ; Baljinnyam B ; Nasantogtokh E ; Altantuya Sh ; Enkhmaa D
Mongolian Journal of Obstetrics, Gynaecology and Pediatrics 2022;31(1):2265-2271
Assessing children with disabilities using who international classification of functioning (ICF)
Background: In 2021, according to the World Health Organization (WHO), over 1 billion people are estimated to experience disability. The number of children with disabilities globally is estimated at almost 240 million, according to a new UNICEF report. There are approximately 43 million children with disabilities in East Asia and the Pacific. In the 2020 population and housing census of Mongolia, a total of 106.4 thousand people with disabilities were counted, of which 7.6 percent or 8.1 thousand children aged 0-14 were counted. People with disabilities lose some of their ability to labor. WHO recommended that assessment of children with disabilities using both ICD and ICF. Thus, we aim to assess children with disabilities who have neurological disease using International Classification of Functioning and evaluate the validity of this classification.
Materials and methods: This was a cross sectional analytical study based on NCMCH. Study materials were collected from children and guardians through standard questionnaires. The questionnaire consisted of 2 groups: general information of the participant and indicators of the scope of the D code of the "ICF" to assess the childhood disability. According to the indicators of the D code range, activity limitations and participation restriction, disabilities were evaluated. Each question in the questionnaire was measured on a 5-point Likert scale from 0 to 4. The statistical analysis was performed using R 3.5.1 program. Validity was assessed using the Rasch model for each question. Questionnaire reliability was assessed by Cronbach's alpha test.
Results: The study included 32 children aged 2-15 years. Male children were 62.5% of participants, the mean age was 8±3.1 years. Correlation between questions was high (r = 0.79) and reliability was adequate (α=0.94). As a result of Rasch analysis, the mean and standard deviation of the 36 selected parameters were not significantly different from the standardized mean. 3 indicators that did not meet the analysis criteria were removed, and a total of 33 indicators were used to measure childhood disabilities. Mean infit MNSQ was 1.06, mean outfit MNSQ was 0.93. MNSQ of all participants were 1.0 – 2.0. As a result of Rasch analysis, the mean of 33 indicators of disability is -1.6, the standard deviation is 1.2, the upper limit of the mean is 3.6, and the lower limit is -3.4, and the indicator of D code was stable enough to measure disability. The mean code scores were 2.45±1.3. The mean score of disability level of children diagnosed with cerebral palsy was 2.9±1.09, and children hospitalized with seizures and meningitis was 0.5±0.3. Also, the total mean score was 2.61±1.2 in the group with disability and receiving care, and 1.8±0.21 in the group not receiving care, which was a statistically significant difference.
Conclusions: Inter-indicator correlation was good and reliability of the questionnaire was adequate in field use of the 38 indicators of the activity limitations and participation restriction of the International Classification of Functioning, Children's Version (ICF-CY) code range “D”. When evaluated by Rasch analysis, 33 questions were evaluated as structural and stable. The International Classification of Functioning can be used to assess children's disabilities.
Discussions: Niels Ove Illum et al. (2015) found that The World Health Organization International Classification of Functioning, Disability and Health child and youth version d code data can provide a coherent measure of severity of disability in children across various diagnoses, ages, and genders. Results were similar to our study.
6.The prevalence and type of congenital cleft of the lip and palate in mongolia, affiliation of the patients
Bulgan B ; Chudurbat G ; Erdenetsogt J ; Tserendulam D ; Altangerel B ; Khash-Orgil Ts ; Erdenesaikhan M ; Ayanga G
Mongolian Journal of Obstetrics, Gynaecology and Pediatrics 2022;32(2):2334-2339
The prevalence and type of congenital cleft of the lip and palate in mongolia, affiliation of the patients
Background: The prevalence of congenital cleft lip and palate is different internationally. There are some research papers which identifying the rate of this abnormality in Mongolia, the latest one shown the result that one cleft case for 1072 live births (Ayanga GN et all, 2012).
Aim: to determine/update the prevalence and types of congenital cleft lip and palate in Mongolia
Materials and methods: we include the data from all cleft patients who were born between 01 of January, 2011-31 of December, 2021 to this survey retrospectively. We used the e-history for cleft patients, which developed by the department of Maxillofacial surgery since 2011.
Results: Totally 1308 cleft patients included to our survey. The prevalence is one cleft cases for 652 live births in Mongolia, and 34,1% is cleft of the lip, 41,4% is cleft of the lip and palate, and 24,5% is cleft palate only of all cases. Also the rate was differently among provinces, as one for 429 live births in Khuvsgul province, and one for 1223 live births in Uvs province.
Conclusions: the prevalence of cleft lip and palate in Mongolia 1000:1.5 or one for 652 live births. The highest rate established in Khuvsgul province, and the lowest in Uvs province.
7. Hemangioma cases and treatment
Davaanyam L ; Ayanga G ; Erdenetsogt J ; Tserendulam D ; Bayasgalan R ; Batbayar B ; Uranchimeg D ; Bulgantamir E
Innovation 2016;2(1):18-20
Hemangiomas are common benign vascular tumors which about 70% to 80% of the lesions are found in the head and neck region. This study was conducted on 36 children with hemangioma who were referred to Orofacial Surgery Cabinet of Dental School of Health Sciences University of Mongolia and Orofacial Surgery Cabinet of National Center for Maternal and Child Health of Mongolia between 2013 and 2015.Of the 36 children referred for assessment, 72% were female, 55% were infants of 4 to 9 months old, and 83% of them were citizens. 58% of patients underwent cryotherapy,and 57% of patients underwent cryotherapy had 2 therapy sessions. 25% of patients receiver sclerotic therapy, and 67% of them had 2 therapy sessions. According to the locations of hemangiomas 30% of them were localized in infraorbital area. 72% of the participants are women and 55% are children age of 4-9 month which 83% of all participants were living in city. 58% of children with hemangioma are treated with cryotherapy which 57%of treatment finished by second visit. And 25% were treated by dehydration treatment which 67% were finished by second visit.
8. DRUG USE SURVEY RESULTS OF MULTI-DRUG RESISTANT TUBERCULOSIS
Davaasuren L ; Antuya B ; Tserendulam L
Mongolian Pharmacy and Pharmacology 2015;6(1):6-10
Tuberculosis disease is directly proportional to a country’s socio-economic situation and standard of living. Studies have shown that in Mongolia the inflation, unemployment, poverty and migration that have emerged as a consequence of the socio-economic changes in 1990s have influenced the spread of the disease.The Global Fund to Fight AIDS and Tuberculosis Project was initiated by the UN and launched in our country in 2003. In relation to an expected completion of the project in 2016, the need has been determined to include the funds required for AIDS and tuberculosis (TB) treatment into the state budget and, therefore, the necessity to conduct a detailed study of TB drug usage to validate this need has become the basis of this research.[3,5,6] Materials and methods: Patient history of 200 inpatients in (NCCD). Registration of drug expenditure of pulmonary tuberculosis and multi-drug resistant tuberculosis (MDRTb) and statistic survey data.As WHO recommended determining drug consumption by disease and mathematic statistic method. Purpose:Multi-drug resistant drugs tuberculosis used in the treatment of estimated needs, and to be determined by the main anti-tuberculosis drug spending.Results: 1. 50 patients diagnosed as MDRtb by the NCCD used 9 main types of drugs, Out of these 5 were most widely used. 2. 1,211,700,0±546,008,9million was spent on treatment of MDRtb in inpatient facilitiesКey words:Multi-drug resistant tuberculosis

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