Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogenous group of disorders. Useful classifi cation is still clinical and electrophysiological classifi cation that divides CMT into CMT type 1 - demyelinating form and CMT type 2 - axonal form. An intermediate type is also increasingly being determined. Inheritance can be autosomal dominant, X-linked and autosomal recessive (AR). In this review, we will focus on the clinical and/or electrophysiological findings and molecular genetics of ARCMT1 (CMT4). Ten genes, GDAP1, MTMR2, MTMR13, SH3TC2, NDRG1, EGR2, PRX, CTDP1, FGD4 and SAC3 have been identifi ed in the CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CCFDN, CMT4H and CMT4J types, respectively. In addition, susceptibility locus on chromosome 10q23 has been found for CMT4G disease. Molecular genetics of demyelinating ARCMT are large disabilities of proteins in Schwann cells and their functions (transcriptional factor, protein transport, protein sorting, intra/extra cellular compartments, signal transduction, cell division, and cell differentiation). It has been rising necessary requirements to defi ne clinical and genetic subtypes of the ARCMT1, prevent from disease, give reproductive and genetic counselling, and develop methods for reducing and clear disease risk factor.

Trough WHO recommendation hysteroscopy is the golden standart technique of uterine cavity evalution. First Maternity Hospital of Mongolia have been implemented gynecological laparoscopic surgery since 2009, then from 2013 we have started diagnostic and operative hysteroscopy. A hysteroscopy may be done to find the cause of abnormal bleeding or bleeding that occurs after a woman has passed menopause. It also may be done to diagnose infertility. Also a hysteroscopy can be used to remove growths in the uterus, such as fibroids or polyps. We evaluated results of gynecological diagnostic and operative hysteroscopy, which was done in First maternity hospital.We took special questionnaires from 39 women and did prospective analyses.39 patients, who were done hysteroscopy were involved our study from November 2013 to January 2015. 51% of participants were reproductive age women. Under 20 years old participants who underwent diagnostic hysteroscopy due to hyperplasia of endometrium were 3%, they were performed biopsy. From all participants 87,2% performed operative hysteroscopy, 12,8% was diagnostic hysteroscopy. After diagnostic and operative hysteroscopy, 97% of patients had no symptoms, but last 3% of patients had lower abdominal pain. If clarify diagnosis which is approved after diagnostic and operative hysteroscopy 51.3% was displaced IUD, 35.9% was endometrial polyp, 2.6% was hyperplasia endometrium, 10.3% was infertility. Complication was 2.6% through postmenopausal participants if compared with premenopausal women. Diagnostic and operative hysteroscopic procedure has benefits for synehia, septum of uterus, endometrial hyperplasia, abnormal uterine bleeding, submucosal myomectomy. From all participants 87,2% performed operative hysteroscopy, 12,8% was diagnostic hysteroscopy. Hysteroscopy was done when displaced IUD (51.3%), polyp of endometrium (35.9%), hyperplasia of endometrium (2.6%), and infertility (10.3%).Complications after hysteroscopy depends from menopause.

Background: The data of prevalence of epilepsy in rural provinces among general population in Mongolia is rare. Goal:The study aimed to identify prevalence rate of epilepsy and its characteristics by age and sex among the population in eight provinces (Bayan-Ulgii, Bayankhongor, Gobi-Altai, Zavkhan, Uvurkhangai, Dundgobi, Orkhon and Hentii) of Mongolia.Material and Мethod: This study in the listed aimag populations was carried out by retrospective application and using a questionnaire developed according to a methodology approved by the Academic Council of the Medical Science Institute. For verification of the epilepsy diagnosis, the study based on neurologist examination and EEG. In some suspect cases we used neuroradiological tests including СT and MRI. The diagnosed patients were registered using a special form. The study involved diagnostic examinations of 627762 (306482 males; 321280 females) persons that had at least two unprovoked seizures in their lives. For each case of positive diagnosis we calculated the prevalence rate per 1,000 population in each category of extended age groups (1-12 months, 1-2, 3-4, 5-6, 7-8, 9-10, 11-12, 13-15, 16-17, 18-22, 23-27, 28-32, 33-37, 38-42, 43-47, 48-52, 53-59, and above 60) and by sex.Result: There were 1407 cases (785 males; 622 females) of diagnosed epilepsy among the studied population. The cumulative prevalence rate for all aimags was studied 2,24 (males- 2,56; females-1,93) per 1,000 population. The relatively high prevalence rates per 1,000 population were observed in Gobi-Altai (5,14), Dundgobi (3,31), and Orkhon (2,48) whereas the lowest rate was in Bayankhongor (1, 38). A differential look by sex reveals a high sex gap 6,20 for males and 4,12 for females in Gobi-Altai while Dundgobi (males- 3,84; females- 2,80), Orkhon (males-2,91; females-2,08); Uvurkhangai (males -2,20; females -1,73) show little difference by sex (P>0,05).As for the differences by the detailed age groups, all aimag data shows that prevalence for males ranges between 0,14(1- 12 months) and 5,17 (48-52) and for females between 0,24 (above 60) and 3,82 (38-42). The highest prevalence rate among male population was observed in 48-52 age group, 6,21/1000; followed by age groups 33-37 (2,93/1000); 53-59 (2,84/1000); 38-42 (2,81/1000); and 18-22 (2,38/1000). The highest prevalence rate among female population was observed in 43-47 age group 5,49/1000 followed by 38-42 (5,48/1000); 33-37 (4,0/1000); 53-59 (3,35/1000).Epilepsy prevalence in age groups younger than 11-12 tends to fall for both male and female population. Gender difference in prevalence is that males tend to have higher rates 2,56 than females 1,93 ( P<0,05).Conclusion:1. The general epilepsy prevalence among some rural populations in Mongolia is 2,24 (M -2,56; F-1,93) per 1,000 population.2. The cumulative by all studied aimags data reveal relatively high prevalence rate in age groups of 18-59. This level might be related to men’s vulnerability to traumas and factors of vascular origins while in women it might relate to their physiological transformations of pregnancy delivery and menopause.3. Epilepsy prevalence in age groups under 12 years old tends to fall for both male and female population which might be related to the low level of examination and diagnosis of these diseases among children.4. Compared to some foreign scholars’ data, Mongolia’s epilepsy prevalence rate does not qualify it among the high rate countries.

Background:Kidney transplantation has being performed in Mongolia since 2006. However there is currently no published data available on long-term graft and patient survival.Objective:Our aim was to assess the long-term graft and patient survival rate correlation with HLA-A-B-DR matching. Material and Methods:We retrospectively analyzed data from 70 adult kidney transplants performed at our hospital from August 2006 through January 2014. The data was retrospectively collected from patient fles, including characteristics of the recipient and donor, post transplant features and HLA-A-B-DR DNA based typing results. The KaplanMeier method was used to analyze graft and patient survival.Results:The mean patient follow-up period after kidney transplantation was 39,6±25.9 months, and the mean kidney graft follow-up period was 36.6±23.7 months for 70 cases. Overall graft and patient survivals were 52 (74.3%) and 60 (85.7%) respectively in 70 cases. Five-year graft and patient survivals were 23 (67.6%) and 29 (85.3%) respectively in 34 cases. The group with four to six mismatched were found to have a signifcantly lower 3 and 5-year graft and patient survival (71%; 35%); (80%; 40%) compared to 0 to 1 mismatched group (100%) (p=.030; p=.015). Furthermore we analyzed the association of HLA matching, immunosuppressive therapy and long-term graft survival. We selected CNI mono-therapy group for long-term survival analysis and observed a similar pattern. In mono-therapy group, the group with four to six mismatched were found to have a significantly lower 3 and 5-year graft and patient survival (75%; 30%); (65%; 30%) compared to 0 to 1 mismatched group (100%) (p=.037; p=.001).Conclusion:The results showed that graft and patient survival rates were lower compared with results from established centers. Statistically highly signifcant effect of HLA matching on kidney graft and patient survival rates was found in our analysis. Five years after transplantation the graft survival rate of frst adult kidney transplant with 4-6MM was 65-70% lower than that of grafts with 0-1MM. Longitudinal cohort study needed in the future to exhibit an improved transplantation outcome.

Trough WHO recommendation hysteroscopy is the golden standart technique of uterine cavity evalution. First Maternity Hospital of Mongolia have been implemented gynecological laparoscopic surgery since 2009, then from 2013 we have started diagnostic and operative hysteroscopy. A hysteroscopy may be done to find the cause of abnormal bleeding or bleeding that occurs after a woman has passed menopause. It also may be done to diagnose infertility. Also a hysteroscopy can be used to remove growths in the uterus, such as fibroids or polyps. We evaluated results of gynecological diagnostic and operative hysteroscopy, which was done in First maternity hospital.We took special questionnaires from 39 women and did prospective analyses.39 patients, who were done hysteroscopy were involved our study from November 2013 to January 2015. 51% of participants were reproductive age women. Under 20 years old participants who underwent diagnostic hysteroscopy due to hyperplasia of endometrium were 3%, they were performed biopsy. From all participants 87,2% performed operative hysteroscopy, 12,8% was diagnostic hysteroscopy. After diagnostic and operative hysteroscopy, 97% of patients had no symptoms, but last 3% of patients had lower abdominal pain. If clarify diagnosis which is approved after diagnostic and operative hysteroscopy 51.3% was displaced IUD, 35.9% was endometrial polyp, 2.6% was hyperplasia endometrium, 10.3% was infertility. Complication was 2.6% through postmenopausal participants if compared with premenopausal women. Diagnostic and operative hysteroscopic procedure has benefits for synehia, septum of uterus, endometrial hyperplasia, abnormal uterine bleeding, submucosal myomectomy. From all participants 87,2% performed operative hysteroscopy, 12,8% was diagnostic hysteroscopy. Hysteroscopy was done when displaced IUD (51.3%), polyp of endometrium (35.9%), hyperplasia of endometrium (2.6%), and infertility (10.3%).Complications after hysteroscopy depends from menopause.

Background:However kidney transplantation has being performed in Mongolia since 2006, because of pre-transplant ensitization, ABO incompatibility, hepatitis B and C virus activation many patients are taken kidney transplantation in abroad. The transplantation centers use own immunosuppressive regimens.Objective:Our aim was to assess the immunosuppressive regimens efficacy and toxicity in kidney transplant Mongolian recipients.Material and Methods:We analyzed data from 96 adult kidney transplant recipients who had taken kidney transplantation in different transplant centers from August 2006 through January 2014. There were 3 kinds of regimens Group I Simulect induction with standard triple /FK506/CyA+MMF/AZA+steroid/, Group II Campath-1H induction with CNI monotherapy and Group III Campath-1H induction with standard triple /FK506/CyA+MMF/AZA+steroid/. We retrospectively collected the post-transplant first two year serum creatinine. The study was performed in 2014. The questionnaire was taken and blood samples collected for determination of tacrolimus through level and for other laboratory tests. The primary end point was the first two years serum creatinine, the secondary end points included rejection episodes, blood through level of tacrolimus and some laboratory findings.Results:The post-transplant first two years serum creatinine levels were significantly different in 3 groups. Group III showed similar results compared to Group I. There was not enough data of biopsy proven acute rejection episodes however group II said more rejections occurred. However participants said that rejection occurred in 15 (15.6%) biopsy was done only 3 (3.1%) cases. Blood through level of tacrolimus was significantly different in three groups. Some laboratory findings showed different between three groups.Conclusion:A regimen of Campath-1H induction with CNI monotherapy (Group II) may be advantageous for short-term renal function and cost effective but there were more rejection complications and increased creatinine. The regimen of Campath-1H induction with standard triple (Group III) may be advantageous for long-term renal function, allograft survival, but there should consider about infection complications and polycythemia. Simulect induction with standard triple could be best choice but transplantations were performed in experienced centers. The study enrolled few cases and cases which were performed at the beginning of transplant program so many things could influence on the result. The study was compared beginner transplant center with experienced centers. Longitudinal cohort study needed in the future.

BACKGROUND. Spinal muscular atrophy (SMA MIM#253300) is a heterogeneous group of neuromuscular disorders caused by degeneration of anterior horn cells. Spinal muscular atrophy is the second most common autosomal recessive disorder. The first substantive descriptions of SMA occurred at the end of the 19th century when Werdnig and Hoffman characterized the features of autosomal recessive SMA. SMA is broadly classified into four major categories characterized by the age of onset as well as severity of the disease. Clinically proximal weakness, predominantly athropy, upper muscle athropy and other muscle weakness including of facial, scapula and respiratory were reported. SMA is inherited by X chromosomal, autosomal recessive and dominant mode. In our study, we recruited an individual diagnosed with SMA, without SMN1 gene mutation to investigate BICD2 mutation. Peripherial blood from the patient and his family members were taken to extract genomic DNA according to commercial protocol. Amplification of target gene was done by special primers. DNA sequencing was done to detect a mutation. As a result, we identified a mutation in location c.484 C>T of third exon of BICD2 gene. This mutation is was a heterozygous in mother’ and child’ DNA, SIFT and Polyphen program was used to detect its pathogenic effect. We also checked by Grantham matrix score is 180.0 representing it,s changing acid and alkaline feature in this amino acid. We diagnoses a suspected case with SMA by his clinical symptoms as a SMA type III, Kugelberg-Belander desease. We detected a mutation of BICD2 gene in a patient with SMA. This mutation altered acid and alkaline checked by Grantham matrix. This mutation has never reported before, showing 100% pathogenic effect on protein function, but because of highly penetrate feature of this disease makes its inheritance mode of autosomal dominant pattern.

Introduction: Diarrhea is defined as a person excretes more than three times in 24 hours with pathological impurities of more than 10 mg/kg per day. According to the fact sheets of the World Health Organization in 2019, diarrhea is the second leading cause of death among children under 5 years of age. Researchers suggest that about 50 percent of infantile diarrhea occurs in temperate countries and it reaches almost 80 percent in winter which is mainly caused by rotavirus. While immunization is the most effective way to prevent rotavirus infection, there were two types of rotavirus vaccines that have been licensed and available on the global market since 2006. Rotavirus immunization in young children is a safe and effective public health method for controlling rotavirus infection which therefore can reduce childhood morbidity and mortality. Study aim: To study the incidence, clinical manifestations, and complications of rotavirus among children hospitalized with acute diarrhea. Methodology: The study will be conducted using the observational method including descriptive analysis. Statistical data for 2018-2020 will be obtained and analyzed from the pediatric wards of the “Gurvan Gal” hospital. Children diagnosed with rotavirus diarrhea who meet the criteria to be included in the study will be selectively sampled with further analysis of the incidence, clinical features, toxicity, and dehydration of acute diarrhea according to the medical history. Results Universal immunization is important to significantly reduce rotavirus-associated diarrhea, thereby reducing infection and the risk of disease in infants and young children.

The purpose of the present study was to elucidate genealogical and clinical features of hereditary neuropathy in the several kindreds of Gobi-Altai province.Materials and Methods: In the present study, we investigated five kindreds originated from Bayan-Uul sum, Gobi-Altai province on the basis of previous surveys. Each participant was enrolled for genealogical and neurological examinations according to specific questionnaire. We also collected biological samples for further genetic study. Genomic DNA was isolated from biological samples, and quantitative analysis of DNA was determined by spectrophotometer and Picogreen assays.Results: Twenty members from five kindreds were investigated. Genealogical analysis revealed that there is a linkage between two kindreds within the families enrolled into study, whereas no association was revealed among the other pedigrees. As a phenotype of the hereditary neuropathy, the clinical features were inherited in every generation, and the inheritance was not dependent on the gender. In neurological examination, age of hereditary neuropathy onset was detected as follows. The clinical features appeared in the first decade of life in 4 patients, in the second decade of life in 5 patients, and for the other members the disease started in the age of over 20 years. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Interestingly five female patients had similar gynecological problems. Conclusions:1. The hereditary neuropathy exists in the kindreds of Bayan-Uul sum, Gobi-Altai province and the type of inheritance could be categorized as autosomal dominant.2. Onset of hereditary neuropathy disease was started mostly in the second decade of life. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Apart from general clinical features, the specific complications related to metabolic disorders and pregnancy was detected.

Background: The shapes of the eye and upper eyelid are distinctive facial landmarks. The palpebral fissure is composed of the free edges of upper and lower eyelids the lateral and medial canthus. Many researchers confirmed that the morphometric characteristics of the palpebral fissure, canthal distance and exophthalmometirc value (EV) vary according to race, ethnicity, age and sex and normative values which may serve as a reference in the index population. Knowledge of normal dimensions, the existence of asymmetry of the palpebral fissure is of value in several clinical specialties including ophthalmology, plastic and reconstructive surgery and traumatology, where it plays a part in the patient evaluation, management and outcomes. Methods: This cross-sectional study was conducted in the Ophthalmological Department, Third State Central Hospital between January 2022 and August 2022. We included participants who are above 18 years, no history of congenital or traumatic craniofacial deformities, any orbital fractures, tumors and surgeries. All measured values that represent eyelid shape and EV were calculated by mean and standard deviation for statistical analysis. Results: A total of 103 participants aged 19-86 were included in the study, of which 44 (42.7%) were male and 59 (57.3%) were female. The distance between the lateral and medial canthus ranged from 20 to 35 mm, and the mean of the right and left side was 28.30+3.23 mm and 28.05+2.99 mm, respectively (p=0.561). The palpebral fissure height ranged from 5 to 13 mm, and the mean of the right and left side was 8.85+1.65 mm and 8.80+1.65 mm, respectively (p=0.816). The mean distance between the lateral canthi were 90.39+5.57 (range: 80-105 mm), whereas the mean distance between the medial canthi were 63.75+4.25 (range: 53-73 mm). The orbital height varied between 27-43 mm (33.73+3.72) and 26-44 mm (33.78+3.73) on the right and left sides, while the orbital width varied between 26-47 mm (36.75+4.53) and 27-45 mm (36.72+4.42) on the right and left sides, respectively. When measuring the exophthalmometric value (EV), the axial position of the eyeball, with the Hertel’s exophthalmometer, it ranged from 8 to 20 mm on both sides (mean value 13.68+3.01 and 13.71+3.00 on the right and left sides, respectively), and there was no statistically significant difference in symmetry (p=0.94). Conclusion The results are determined different from the findings of Chinese, Korean, Afro-American and Caucasian population based studies. Thus further evaluation is required to represent the normative value of Mongolian index population, that is highly beneficial for clinical assessment, diagnosis and management.