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.

Background: A rare angioproliferative condition of the larynx, Kaposhi sarcoma typically affects the skin. Immunosuppressive treatment following organ transplantation and human immunodeficiency virus infection are the causes. Every type of Kaposi sarcoma has human herpesvirus-8. Laryngeal kaposi sarcoma is uncommon in immunocompromised patients; since its initial identification in 1965, 18 cases have been documented globally. A CO2 laser-assisted laryngeal microsurgery is performed through the mouth cavity to remove tumor when kaposi sarcoma of the larynx obstructs the airway. Case report: A 77-year-old woman complained of hoarseness, dry mouth, odynophagia, and dysphagia three months prior when she arrived at the Mongolian-Japan Hospital. Two years ago, she acquired hard, sensitive lumps that were palpable on her right arm, left ankle, and right thigh. At that time, she was diagnosed with Kaposiform hemangiodermatitis and treated at the National Center for Dermatology. HIV test results were negative. Immunohistochemistry: CD31 +/-, CD34 /+/. Using flexible nasopharyngeal endoscopy to get the diagnosis: There was a mass that was about 1.5–2–5 cm in diameter, bluish in color, smooth and movable, and spongy and vascular on the larynx, on the nasopharynx, behind the palatine tonsills, and supraglottic. Surgery: Through the use of Kleinsasser laryngoscopy and a 0-degree endoscope, pathological tissues were extracted under general anesthesia using a laryngeal microsurgical instrument and a laparoscopic bipolar coagulator. The tissues were then sent for histological evaluation, which revealed Kaposi sarcoma, sarcoma grade 1. Results of treatment Pain decreased and quality of life increased following surgery. Upon nasopharyngeal endoscopy, the vocal cord mobility was normal and the surgical incision was clean. Conclusion: Kaposi sarcoma is an extremely uncommon illness. A lower quality of life and further issues can be avoided with an early diagnosis and suitable therapy. It also needs to be continuously monitored because it is a potentially repeatable disease.

Background: Due to the geographical location, population, and climatic characteristics of Mongolia, ear, nose, and throat diseases have not decreased to a certain extent, and non-communicable diseases, which are the main causes of morbidity and mortality, are increasing year by year in many countries. Urbanization, population density, environmental and air pollution, unhealthy lifestyles, and harsh working conditions have a significant impact on human health and increase the risk of developing non-communicable diseases. In our country, the study of ear, nose, and throat diseases among emergency workers who work continuously in all weather conditions throughout the four seasons of the year is relatively rare, which was the reason for conducting this study. Aim: Emergency services in some aimags and soums in the Central and Khangai regions have been working to identify and diagnose ear, nose, and throat diseases among employees. Materials and Methods: Using an organization-based prospective study method, clinical examinations were conducted from September 25 to October 18, 2024, among employees of the Central and Khangai regions of Orkhon, Selenge (6 soums), Tuv (4 soums), Khuvsgul (5 soums), Arkhangai (2 soums), Darkhan (1 soum), Bulgan (3 soums), 7 aimags, and 21 soums. The diagnosis of ear, nose, and throat diseases was made using ICD codes, and the data was analyzed using EXCEL software. Results: Among the employees and workers of the emergency services of the aimag, soum who participated in the survey (n=984), 139 (14%) were female and 845 (86%) were male, with an average age of 31.7 years and an average number of years of service of 10.3. The frequency of diseases classified by ICD code as a percentage of occurrence was as follows: J34.2: 211 (21%), J35.1: 96 (9.75%), J31.0: 58 (5.89%), H90: 15 (1.5%), H61.2: 14 (1.4%), H72.0: 10 (1.01%), H65.4: 6 (0.6%), J34.89: 5 (0.5%), K21.0: 5 (0.5%), H61.81: 3 (0.3%), D11.0: 2 (0.2%), 119 (12%) with comorbidities, and 426 (43.3%) diagnosed as healthy without ENT diseases. Conclusion 43.3% of the employees of the National Health Insurance Agency of some aimags and soums of the Central and Khangai regions were diagnosed as healthy or without ear, nose and throat diseases, and deviated nasal septum (J34.2), enlarged tonsils (J35.0), chronic rhinitis (J31.0), and conductive and sensorineural hearing loss (H90) were commonly found.

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 hearingimpaired 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. The most complications of inflammation of the middle ear temporal bone and skull brain are otitis media, suppurative otitis media, meningitis and skull brain abscess. Aim:To diagnose otitis media, to find the complication of suppurative skull brain and to study the treatment issues as well as to decrease the complication. METHOD. We treated that the patients who was treated the otitis media and complicated with suppurative skull brain between 2014-2015, also the treatment was studied by us in department of otolaryngology surgery of Shastin Central Hospital. RESULTS. In our study, we found the following results: It was a high prevalence with chronic otitis media with effusion in 60 (28.8%) people of younger age group with 25-35 years old. It was a female preponderance with 66% by prevalence. Chronic otitis media with effusion 120 (57.6%), chronic otitis media with mastoiditis 79 (37.9%), total number of patients chronic otitis media with and without mastoiditis 199 (95.5%). It shows disease are easy to throne to the complicated stage of its disease. There was 1 case (0.48%) with intracranial complication. We manage the 8 (4%) patients by antibiotic therapy, 200 (96%) patients by combined with medical and surgical therapy with average 9-12 days of hospital bed days. During 2014-2015, there was only 1 case with intracranial complication from chronic otitis media, shows our early diagnostic level of medical service are quite well. CONCLUSION. Therefore we conclude that prevention, early diagnosis are the main way to decrease the disease. The most important issue is to manage acute otitis media as early as possible before converting it chronic form.

BACKGROUND. In our country, the allergic rhinitis spreads through 23,5% of adults and asthma spreads through 20.9% of children. The allergic rhinitis causes rhinosinusitis, rhino polypus, inflammation of respiratory tract, middle ear infection, breath with mouth, insomnia or sleepless and losing of life quality. Therefore it affects badly on children’s focusing and grades. Aim: To detect the specific immunoglobulin E for 3-12 years old children with allergic rhinitis. Goals: 1. To detect the specific immunoglobulin E for 3-12 years old children with allergic rhinitis , to take a skin test from 7-12 years old children 2. to detect the specific immunoglobulin E for 20 children of control group METHODS. We did an otolaryngologic examination and took an anamnesis of “Allergic rhinitis and its impact on asthma” that from the international organization. We detected the specific immunoglobulin E with aeroallergens and 40 types of food allergens for 3-6 years old 20 children with allergic rhinitis and 20 healthy control group children in their peripheral blood by using Agnito BIO Lc, the allergic panel from Taiwan. Did skin test with positive and negative control for 7-12 years old 20 children by 40 types of diagnosing devices that from Allergopharma /from German/, Lofarma /from Italy/ firms. We produced the study results and did statistic information on SPSS 23 program. RESULTS. We did the allergic test in peripheral blood of 3-6 years old children following the standard of allergen-specific IgE and produced the results. 3 of them /19 children/were sensitive for epidermis of dog, cat and horse /15.7%/. All of them were sensitive for ground plants /100%/, 12 of them/63,1%/ were very sensitive/32+/ for mugwort, and 16 /84,2%/of them were sensitive for herbs, 14 /73,6%/ of them were sensitive for other allergens such as resin, candida. And 6 /31,5%/ of them were sensitive for mites. 8 of them were sensitive for food allergens additionally /42,1%/.12 of 17 children who had a skin test were sensitive for mugwort /70,5%/, 9 of them were sensitive for trees/aspen, hus, pinaster/ /52,9%/. There was any sensitiveness for house dust and container dust mite for 7-12 years old 17 children. It shows that there might be immunity for this age. CONCLUSION. The boys with allergic rhinitis were more than girls about 61,1%. It shows that the allergic rhinitis occurs in boys more than girls.3-6 children were sensitive /97,2%/ for ground plantsand sIgE level 7.26±5.18. 7-12 years old 20children were sensitive for herbs and mugwort more /94,1%/.

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.

There are a lot of influencing factors of facial nerve palsy; experts believe that is most likely caused by a Virus (54%) and Bacterial infections. Noninfectious causes of facial nerve palsy induce tumors (28%) and less commonly influences head trauma (18%). The retrospective analysis of WHO, in 2012. There are some cases of postoperative complication in middle ear surgery is facial nerve palsy and the total recovery outcome of function was not good. From 2013 to 2016 in EMJJ hospital, Mongolia, we enrolled 16 cases with facial nerve damaged in intratympanic canal but we could not recruit some patients with facial palsy over 6 months. Each subject was tested with pure tone test, ABR, Tympanometry. These were performed for the detection of hearing loss after Temporal bone injury. Then we also investigated location of facial nerve damages of patients by MRI and CT before reconstructive surgery. After that surgery, all patients were given corticosteroid treatment (20mg/day) and physical therapy performed such as acupuncture for a week. Study results revealed that 6 cases after 18 days, 2 cases after 30 days, 1 patient after 45 days of reconstructive surgery regained good symmetry. Therefore, we considered that, postoperative treatments like physical therapy with B12, steroid had good benefits for operation result and to shorten the recovery time. There was a patient who had damaged facial nerve in the tympanic segment during Mastoidectomy. In that case, we performed cable nerve grafting using the r.auricularismagnium but we could not recover facial nerve function. Traumatic facial nerve paralysis is the second most common type. We discussed that performing reconstruction surgery within first 3 months after intratemporal facial nerve injury is extremely desirable and more effective. In our opinion, nerve recovery might be not successfully cause of injured myelin sheet of facial nerve during middle ear surgery.

Among world population, 23.4% have different kinds of hearing disorders and 56% are middle ear disorders, 30% are inner ear disorder, 10% are congenital deaf and 4% are congenital mixed outer and middle ear disorder (WHO info, 2006).In 1995, by the German research, 2% of newborn babies were deaf therefore, among children from 1-18, 16% had middle ear disorder and 0.8% had inner ear disorder. In most cases (54%) cause of hear loss and deaf as sound transmitting apparatus. Later in 2010, sound transmitting apparatus related disorder was decreased by 22.4% J.Helms1995 , K.Schwager 2010 . Doctors proved that 62% of sound transmitting apparatus related disorders are middle ear diseases, 16,2% out of the diseases have the defect of malleus, 44,1 % have the defect of incus and discontinuity of incus and stapedius, and 39,7% is totally absent of ossicular chain 120 tympanoplasty III type surgeries were operated in 2011-2013 in Mongolia. Clinical and operative features of the tympanoplasty III type surgeries were prospectively recorded. Aim: To recover sound transmitting related hear loss with titan prosthesis implant. 120 tympanoplasty III type surgeries were operated in 2011-2013 in Mongolia. Clinical and operative features of the tympanoplasty III type surgeries were prospectively recorded. Out of the surgeries, 51 cases (42.5%) were cholesteatoma, 53 cases (44.2%) were granuloma middle ear and 16 cases (13.3%) were adhesive otitis media. The air and bone gap of all patients were above 15-35 dB. HEINZKURZ firm’s TTP-Variac system’s titan prosthesis was used. Titan prosthesis PORP was carried out in 86 cases (71.6%). For 40 (45.5%) out of the 86 cases, size of titan prosthesis PORP 2.25 mm was chosen. Hearing level increased for 72% out of patients by 10-25 dB after the operation. However, for 46 (54.5%) out of the 86 cases, size of titan prosthesis PORP 2.5 mm was chosen. Hearing level increased for 82% out of patients by 10-30 dB after the operation. Titan prosthesis TORP size 4-4.25 mm waschosen for 34 (28.4%) out of 120 cases. Hearing level increased by 10-30 dB for 80% out of patients involved after the operation Out of the surgeries, 51 cases (42.5%) were cholesteatoma, 53 cases (44.2%) were granuloma middleear and 16 cases (13.3%) were adhesive otitis media.Titan prosthesis PORP was carried out in 86 cases (71.6%). For 40 (45.5%) out of the 86 cases, size oftitan prosthesis PORP 2.25 mm was chosen. Hearing level increased for 72% out of patients by 10-25 dB after the operation. However, for 46 (54.5%) out of the 86 cases, size of titan prosthesis PORP 2.5 mm was chosen. Hearing level increased for 82% out of patients by 10-30 dB after the operation. Titan prosthesis TORP size 4-4.25 mm was chosen for 34 (28.4%) out of 120 cases. Hearing level increased by 10-30 dB for 80% out of patients involved after the operation. Implantation of Titanium prosthesis increased hearing capability by 80% dB. We drum cover the cartilage and cartilage film is used to by Canal wall down, Canal wall updone. Hearing level decrease d by patients involved after the operation. Implantation of Titanium prosthesis increased hearing capability by 80% dB. The air transfer of more than35 dB air-bonegapofmorethan15dB we observed defect of hearing bone

Otosclerosis is a disease that involves the cochlea and it is developed when the structure ofconnecting tissue in the area of stapedius and the oval window has changed and become unmovable.Consequently, conductive hearing loss and therefore severe sensorineural hearing loss are caused.The causes of otosclerosis have not been discovered yet but many factors impact on this disease. Anyresearch works has not been done on otosclerosis in Mongolia until now and we have conducted theresearch in 2008-2013. Therefore, we aimed to identify the hearing condition after surgery treatmentof otosclerosis.41 patients /47 ears/ who were diagnosed of having otosclerosis with conductive hearing loss, nomiddle ear infection through the comprehensive ear and hearing examinations were selected in thisstudy which was done at EMJJ Clinics between 2007 and 2013. The hearing improvement after thesurgery has been tested under bone and air conduction frequency 500, 1000, 2000, 4000, 8000 Hzand the results before and after the surgery were statistically processed on Excel 2010 and SPSS 17.0software programs. Stapedotomia and Stapedoectomia surgery approaches were applied and afteropening of attics, the hearing bones are palpated and the diagnosis of stapes otosclerosis is confirmedby the surgeon, who removes the stapes. Then a titanium K-piston (prosthese or implant) is thenplaced into this opening and connected to the malleus, or the incus.Out of 41 patients (85.4% female) involved in the study and 36 people had one ear side otosclerosisand 5 people had both ear otosclerosis. After the surgery 25 patients did not have dizziness andvomiting symptoms and 14 patients did not have dizziness with movement after 12 hours, andfor 4 patients all symptoms were disappeared after 24 hours. As for the result from the hearingexamination after 21, 60 days of the surgery, bone conduction was normal, air conduction, andhearing for 32 patients improved completely, and after 120 days of the surgery, the hearing of 33patients improved completely, bone conduction became 2000 Hz at 4000 Hz frequency 12-15 dB,average of air conduction 15,4±10,1 dB, bone-air gap 10,4±3,1 dB for 5 people, and bone conduction2000 Hz-4000 Hz, at 8000 Hz frequency 20-40dB, air conduction became 25-45dB 10,4±5,1db for 9patients and all patients had no hearing loss except for 4 people who still had tinnitus.After surgery stapedotomia and stapedoectomia for the otosclerosis, the hearing improvement was95.2% and it has been concluded that there is full possibility to perform surgeries of stapedotomia andstapedoectomia for the otosclerosis in Mongolian situation.