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.

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.

Mongolian blue spots are birthmarks that are present at birth and their most common location issacrococcygeal or lumbar area. There are macular and round, oval or irregular in shape. Lesionsmay be single or multiple. They usually spontaneously regress and disappear during childhood.The prevalence of Mongolian blue spots varies among different ethnic groups according to theoverall depth of pigmentation. Mongolian blue spots are common among Asian, East Indian, andAfrican races, but rare among Caucasian and other races. Mongolian blue spot is a congenital,developmental condition exclusively involving the skin. Mongolian blue spot results from entrapmentof melanocytes in the dermis during their migration from the neural crest into the epidermis. Thismigration is regulated by exogenous peptide growth factors that work by the activation of tyrosinekinase receptors. It is postulated that accumulated metabolites such as GM1and heparin sulfatebind to this tyrosine kinase receptor and lead to severe neurologic manifestations and aberrantneural crest migration.

Introduction: Last Decades, Date by date medical developments providing friendly, high-efficiency treatment equipment and services in developed countries are working toward an advanced, as our country medical services are trying to that country’s technology has been introduced. In our country every day there is only surgical care necessary to endocrine gland disorders, including most common thyroid surgery. It is open and robotic assistant endoscopic surgery in the world. But robotic assistant endoscopic surgery is too expensive and impossible in our country. Thus we chose Thunderbeat for open thyroid surgery in especially huge enlarged goiter and vascularized goiter to try prevent bleeding, recurrent laryngeal nerve palsy and post operation hematoma and other complications Thunderbeat is new generation instrument combines an advanced bipolar clamp to the existing ultrasonic cutter. Materials and Methods: M 51-years-oldwoman was admitted to Mongol Hyundae hospital because of front of neck pain, multi nodular goiter, tachycardia, sweaty and not controlling emotion. Anamnesis: She diagnosed to Thyrotoxicosis in 2005 and she took medicine last ten years but not controlling that poisoning. Status locals: Huge enlarged goiter in front of her neck Treatment plan: 1. Preoperative Preparation 2. Operation: Open total thyroidectomy 3. Medicine 4. Wound dressing 5. Observation We did operation after day of admission day, Patient is placed in a Semi erect position with a folded sheet underneath the shoulders so that the head is sharply angulated backward on the multifunctional surgical table under general anesthesia. We used thunderbeat from muscular to all procedures, dissection both thyroid gland and isthmus after Kocher skin incision and sub skin tissue dissected. There is no complication while procedure and post operation days Result: Nodular hyperplasia of thyroid gland with focci of micro adenomatous change Conclusion: Thunderbeat in use open thyroid surgery first outcomes blood loss than 30ml, no injury of recurrent laryngeal nerve and no penetration ligament of Berry while procedure, second outcomes no hematoma, painless, wound healing process faster and short time hospitalization.

BACKGROUND: Bladder cancer is a cancer of significant morbidity and mortality in the worldwide. It is the second most common urological cancer in Mongolia. It is important to understand the risk factors of bladder cancer.We evaluated the association of smoking, alcohol intake, body mass index and other potential risk factors with bladder cancer incidence in Mongolians.MATERIALS AND METHODS: We analyzed data from a case-control study (116 histologically confirmed bladder cancer cases and 300 cancer-free healthy, age, gender-matched controls). All participants signed the consent form andfilled out the structured questionnaire including cigarette smoking, BMI, chronic urinary disease andalcohol drinking etc. Using logistic regression we estimated the covariate-adjusted odds ratio (OR) and95% confidence interval (CI) of the associations.RESULTS: Mean age of the patients with bladder cancer was 56±10.5 years and 79.3% male and 20.7% female.Cigarette smoking, history of urinary tract diseases and body mass index were associated with an increased risk of bladder cancer OR 6, 48 (95% CI 1, 61-1, 70), OR 80 (95% CI 1, 48-1, 93) and OR=9.8 (95% CI 2.32-2.91) respectively but not alcohol drinking OR 0, 26 (95% CI 1, 56-1, 66).CONCLUSIONS: The results suggest that cigarette smoking, history of urinary tract diseases and body mass indexincreased risk of bladder cancer in Mongolian patients.

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.

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.

Introduction: Last Decades, Date by datemedical developments providing friendly,high-efficiency treatment equipment andservices in developed countries are workingtoward an advanced, as our country medicalservices are trying to that country’s technologyhas been introduced. In our country everyday there is only surgical care necessary toendocrine gland disorders, including mostcommon thyroid surgery. It is open androbotic assistant endoscopic surgery in theworld. But robotic assistant endoscopicsurgery is too expensive and impossible inour country. Thus we chose Thunderbeatfor open thyroid surgery in especially hugeenlarged goiter and vascularized goiter to tryprevent bleeding, recurrent laryngeal nervepalsy and post operation hematoma andother complicationsThunderbeat is new generation instrumentcombines an advanced bipolar clamp to theexisting ultrasonic cutter.Materials and Methods: M 51-years-oldwomanwas admitted to Mongol Hyundaehospital because of front of neck pain, multinodular goiter, tachycardia, sweaty and notcontrolling emotion.Anamnesis: She diagnosed toThyrotoxicosis in 2005 and she tookmedicine last ten years but not controllingthat poisoning. Status locals: Huge enlargedgoiter in front of her neckTreatment plan:1. Preoperative Preparation2. Operation: Open total thyroidectomy3. Medicine4. Wound dressing5. ObservationWe did operation after day of admissionday, Patient is placed in a Semi erect positionwith a folded sheet underneath the shouldersso that the head is sharply angulated backwardon the multifunctional surgical table undergeneral anesthesia. We used thunderbeatfrom muscular to all procedures, dissectionboth thyroid gland and isthmus after Kocherskin incision and sub skin tissue dissected.There is no complication while procedureand post operation daysResult: Nodular hyperplasia of thyroidgland with focci of micro adenomatouschangeConclusion: Thunderbeat in use openthyroid surgery first outcomes blood lossthan 30ml, no injury of recurrent laryngealnerve and no penetration ligament of Berrywhile procedure, second outcomes nohematoma, painless, wound healing processfaster and short time hospitalization.

ABSTRACT. Recurrent aphthous stomatitis, or RAS, is common oral disorder of uncertain etiopathogenesis for which only symptomatic therapy is available. This article reviews the current clinical features of RAS among study patients and the result of therapeutic effects of the herbal preparation Akhizunber. Over the past four years we have treated 61 RAS patients with different clinical forms by herbal preparation Akhizunber or Alumekatin. The distribution of clinical forms RAS RAS among study patients were minor aphthae -75.4%, major aphthae -16.4% and herpetiform ulcers -8.2% respectively. The healing time of treated Akhizunber was in minor aphthae -9.28±4.82 days, major aphthae -14 days and herpetiform ulcers -12 days. Of the total study participants, the patients treated by Akhizunber reported a rapid and complete recovery from RAS during treatment compared with treated patients by Alumekatin. Treatment with herbal preparation Akhizunber can be effective for patients suffering from RAS in any clinic form, regardless of their ulcer number and size.