BACKGROUND. Hemophilia B is X-linked recessive genetic disorder, caused by missing or defective factor IX that results in bleeding longer after an injury or surgery, easy bruising, and an increased risk of bleeding inside joints or the brain. The disorder affects approximately one in 30 000 males worldwide and 18 cases were registered in Mongolia according to statistics of Hemophillia Federation of Mongolia. The annual cost of episodic treatment of an adult with severe hemophilia estimated at ≈53000 USD owing to high cost of treatment developing countries has been adopted to prevent and to forecast the risk of inhibitor. Materials and Methods: The objective of this research is to determine F9 mutations in patients with Hemophillia B in Mongolian population and to assess correlation between genotype and phenotype of disease. Characterization of mutations was performed by direct sequencing of genomic DNA using a Sanger sequencing method. Briefly, the exon or part of the exon deletion was checked and amplified by polymerase chain reaction (PCR). Results: We identified four point mutations and one deletion. No large exon deletion was found in PCR amplification result. As expected, the most common mutations responsible for the disease were point mutations. In general, this study revealed 5 different mutations in unrelated 7 proband and there is good correlation between the type of mutation (location in the amino acid position and domain in the protein) and their functional outcome, yielding a predictable clinical severity.

BACKGROUND. Head and neck cancers are related group of cancers that involve the oral cavity, pharynx (oropharynx, nasopharynx, hypopharynx), and larynx. Early-stage tumors of the upper aerodigestive tract can be cured; for late-stage disease, prognosis is poor. Nowadays microvascular free tissue transfer surgery performed at high level. Worldwide, this particular kind of operation in head and neck surgical field has become “golden standard” of treatment. Seemingly, plastic and reconstructive surgeons of developed countries widely perform forearm free flap, anteriolateral thigh free flap, fibula free flap, rectus abdominal free flap, latissimusdorsi free flap. We purpose to report our first 121 cases of Microvascular Free Tissue Transfer which had been performed at the head and neck surgical department, NCC of Mongolia. METHODS. The clinical records of first 121 cases patients who had microvascular reconstruction done between 2011 and 2017 were reviewed. The indications for surgery, choice of flap, duration of surgery and flap survival were noted. RESULTS. Our study were performed on 121 cases, among them 84.3% flaps were survived, most of defects occurred following cancer resection. Anterolateral thigh and radial forearm flaps were performed commonly for our reconstruction surgery. CONCLUSION. 84.3% free flap recorded success rate indicates our early experiences. Although the National Medical University do not have postgraduate reconstructive and plastic surgical training, we believe that meticulous planning, careful vessel selection, close flap monitoring as well as improved infrastructural support can lead us to much better success rates of microvascular reconstruction in our country.

Background: The ichthyosis is a hereditary skin disease and inherited by autosomal dominant, autosomal recessive and X recessive trait separately. The X-linked ichthyosis (XLI) is the most frequent cutaneous disease and general incidence accounts for one in 2000-5000 male births. Molecular pathogenesis of XLI is due to mutations, which are large deletion, missense, frame shift and nonsense in STS gene. The vast majority of mutation frequency is a large deletion, which are found in 85-90% of patients with XLI. An exon deletion of the STS can be detected by Polymerase chain reaction with exon specific primers. An identification of STS gene mutation has various importance such as 1) detection of mutation type; 2) for genetic counselling, 3) disease severity, 4) carrier detection. Methods: In the present study, pedigree analysis was used for type of inheritance, and Polymerase chain reaction was used to detect a deletion in STS gene and normal control used. A deletion was identified in case PCR bands were not visualized in agarose gels. Results: We included one patient, who had typical symptoms of XLI including dark, adherent scales on skin. Mutation analysis of the STS gene showed that the patient had whole gene deletion (del: Exon 1-10), which was demonstrated by the repeated amplification failure of exons. We used a sample of healthy man as a wild type control, which showed normal amplification of STS gene’s exons. Further, the current study will be focused on the screening of heterozygote large deletion of Del: Exon1-10 of STS gene among patient’s female relatives. Conclusion An ichthyosis case enrolled in this study was inherited by X-recessive and we identified whole exon deletion of STS gene in this patient.

Background:Echinococcosis is from animals to humans and cause cestode zoonoses. Genetic variations within of echonoccocus and their genotypes may cause a disease as well as can indicate transmission dynamics to human and pets. At present, there are no available data for the typing of echinococcosis isolated in MongoliaMaterials and Methods:A total of 50 human hydatid samples from collected from State Centre on Maternal and Child Health, Oncology Centre of Mongolia. All samples were examined by PCR using cox1. The PCR products with a molecular size of 578 bp were amplified from human hydatid samples. Also we used RFLP method.Results:Genotype and strains of E. multilocularis and Е. granulosus were identified by RFLP. PCR products were digested using Ssp I, Hind III, Bgl II endonucleases. PCR products were digested by Ssp I endonuclease we found E. multilocularis. PCR products were digested by Bgl II endonuclease. Two major bands were seen in human hydatid sample. The bands have molecular weight of 420 and 158 bp respectively. It was infected by E. granulosus G6. Digestion with Hind III revealed two major bands within samples from human hydatids. These bands have molecular weight of 168, 410 bp respectively. These samples were infected by E. granulosus G1. Most of E. granulosus materials obtained from human patients by surgery confirmed the presence of sheep strain G1 (Bowles and McManus, 1993 a & c). In 24 cases of human hydatid echinococcosis in Mongolia sheep strain was found to be infective to humans.Conclusions:1. Echinococcosis caused by E. granulosus, E. multilocularis in human.2. G1, G6 genotypes of E. granulosus found in human hydatids.

The purpose of this study was to analyze the epidemiology of oral and maxillofacial surgery patients in Mongolia and advocate guidelines and programs to promote optimal oral health care. A fact-finding epidemiologic study on the patients who visited at Departments of Oral and Maxillofacial Surgery, at National Hospitals at Ulaanbaatar city and Province and other Central hospitals of Mongolian, from Jan to Dec, 2013.Total 12957 patients treated at inpatients care center at the above mentioned national hospitals. From Ulaanbaatar city were 4284 (36%) and from province were 7673 (64%). Patients from province were treated at FCH 69%, NTORC 6.4%, NCC 11.3%, NCMCH 27% and CMAFH 1.8%. Zero to 16 years, 17 to 36 years, 37 to 56 years and 57 or more years old patients were3072 (27.1%), 4224 (34.2%), 3218 (26.9%) and 1412 (11.8%), respectively. Males and females were 6841 (53%), 6090 (47%). Cases of the inpatients were as follows: infectious disease 5971 (49.88), benign tumor 1039 (8.01%), trauma & injury 1799 (15%), salivary gland disease 2.41%, TMJ disease 2.8%, neuralgia and muscle pain 0.8% and others. 5 provinces have no Oral and Maxillofacial Surgeon and patients were referred to other central hospitals or to the Ulaanbaatar city. This study gives a topic of conversation about undergraduate dental education, continuing education and enough specialists in the region.