The utilization of biotinylated RNA baits on captured sequencing of cancer marker genes functional regions / Монголын Анагаах Ухаан

Background@#Nucleic acid sequencing is a multi-step process taken place in medical research or diagnostic laboratories. Since the emerge of second generation sequencing technology generally referred as next generation sequencing (NGS), the mass parallel reads covering human genome or transcriptome is achieved by cost cut down over thousand folds. Though the technology made tremendous push forward to various applications, its data analysis time and effort still takes worrisome time and human effort, bringing the emerge of next-step demand: targeted mass sequencing of only desired part from human genome or transcriptome with lower material cost and labor. By targeted sequencing, both run cost and data analysis process can be further cut down, and the read results are more reliable on changes such as determining varied number of repeats, heterozygote alleles, deletions, chromosomal scale abnormality and more. @*Objective@#In this study, we explored the utilization of biotinylated RNA baits on captured sequencing of cancer marker genes functional regions.@*Method@#Targeted NGS was achieved by capturing desired genomic regions using preparatory nucleic acid probes. RNA bait capturing of desired genomic regions has shown to have high specificity and quality. </br> The study was carried out with informed consent obtained from patients, with the approval №53 in 2018.03.15 by Medical Ethics committee, Ministry of Health, Mongolia.@*Result@#By preparing library of biotinylated RNA baits with 75000 unique sequences, we achieved mass parallel sequencing of human 410 cancer-marker-genes’ exons and UTRs with average read depth ~760, and covered thousands of SNPs on 5 genomic DNA samples. Tissue samples derived from breast cancer and ovary cancer had SNP and deletion on 7 marker genes (BRCA1, BRCA2, ATM, BRIP1, PTEN, TP53, RAD51C) not registered in database.@*Conclusion@#Experiments showed RNA baits with up to 117 nucleotide length, produced from ssDNA oligonucleotide stock, can be utilized to capture desired regions of human genome, and bring the cost of captured mass sequencing to 1500 USD, with 93.14-93.33% of Q30 read quality.

Comparison of recent years’ incidences of congenital hip dislocation and developmental dysplasia of the hip among children / Монголын Анагаах Ухаан

BackgroundChildren’s congenital hip dislocation is ranked first, accounting for 49,4% among other skeletal anomalieswhich cause to physical disability.There is a tendency that the number of newborn with the congenitalhip dislocation is going to be increased in recent years, 5000:1 were in 1976 and 1000:1,3% in 1998.Bilateral dysplasia accounts for 50-62% of the total incidences. In unilateral cases,left hip seems to beinvolved 2 times more than the right,and the sex ratio is 2,5:1. Some cultures who swaddle their infantstightly with their legs straightened have a far greater incidence of developmental dysplasia of the hip. Aresearch indicated that discouraging this traditional swaddling method has reduced the prevalence ofdevelopmental dysplasia of the hip and congenital hip dislocationby 6 times in America. It is noted thatthis methodhas also been implemented in Japan and Turkey.Aim.This research aimed to study about the prevalence of congenital hip dislocation, developmental dysplasiaof the hip and other anomalies among the children who were underwent treatment at Pediatric Traumaand Orthopedic Department of National Trauma and OrthopedicResearch Centre of Mongolia in 2013-2015 and children served by outpatient visit in the clinics in 2011-2015.The following objectives were defined in the scope of the research. Herein:1. Evaluate and determine the percentage and prevalence of congenital hip dislocation anddevelopmental dysplasia of the hip among the children who undergo treatment in Pediatric Traumaand Orthopedic Departmentof National Trauma Orthopedic Research Center of Mongolia.2. Evaluate and determine the percentage and prevalence of congenital hip dislocation, developmentaldysplasia of the hip and other anomalies among children who are being served by outpatient visit inClinics of National Trauma and Orthopedic Research Center of Mongolia.Materialis and MethodThis research were studied the prevalence of congenital hip dislocation, developmental dysplasia of thehip and other anomalies among the children who were underwent treatment at Pediatric Trauma andOrthopedic Department of National Trauma and OrthopedicResearch Centre of Mongolia in 2013-2015and children served by outpatient visit in the clinics in 2011-2015.ResultTotal of 40559 inpatients underwent treatment in National Trauma andOrthopedic Research of Mongolia;of which 12217 were inpatient in Pediatric Trauma and Orthopedic Department, aged 0-19;of which1351 has been registered with birth defects of hip; of which 248 has been diagnosed with developmentaldysplasia hip, 869 with congenital hip dislocation. Sex ratio of cases of congenital hip dislocationinmales to female is around 1:4.Total of 633 (13,8%) examinations were performed in the clinics in 2011;704 (15,3%) in 2012;962 (20,9%)in 2013;1013 (22%) in 2014;1287 (28%) in 2015 respectively. It shows an increase in the number ofexaminations year by year.Total of 4142 (90,1%) cases were diagnosed with congenital hip dislocation and developmental dysplasiain both hips; left hip has been dislocated 2 times more than the right, 162 (3,5%) with congenitaldislocation of right hip; 292 (6.4%) with congenital dislocation of left hip.ConclusionTo conclude, the analysis above shows that the prevalence of developmental dysplasia of the hip andcongenital hip dislocation is still high in Mongolia. Therefore, number of diagnosis with congenital hipdislocation has rapidly increased in the recent 2 years.

VASCULAR RECONSTRUCTION DURING KIDNEY TRANSPLANTATION FOR PREVENTING COMPLICATIONS / Мэс засал

Introduction: This article provides areview about techniques and pitfalls of arterialand venous reconstruction during kidneytransplantation. Main reasons of our clinicalstudy are to evaluate vascular variationsof kidney, posttransplantation vascularcomplication incidence and present status ofsurgery outcome.This retrospective researchbased on cross-sectional assessmentofconsecutive 102 kidney transplantation cases,which performed from 2006 to 2015 at theFirst Central Hospital of Mongolia.Materials and methods: Statisticalprocessing andanalysis on posttransplantionpatient history data are made byMicrosoftExcel, SPSS19.0software.Results: Despite rising technicaldifficulties caused by vascular variations,pelvic and inguinal morphology of recipientand the existence of multiple renal arterieskidney transplantation is a safe and highlyefficient procedure.On this article wereexplained 44 kidney transplantation caseswith reconstruction using microvasculartechniques to reconstruct renal arteriesand veins. About 10 different kinds ofreconstructions were done in our practice.Due to investigation of consecutive 102kidney transplanted recipients, 24,51% had avascular anatomical variations. And describedabout 44 vascular reconstructions used inour hospital in case of vascular variations.According to the lit., vascular complicationsranges from 1 to 16%. In our hospital,vascularcomplication of kidney transplantation withmultiple vessels is 4,0-12,0%. Also, incidenceof vascular complication in group with singlevessels from 1.3 to 2.6% and in group withmultiple vessel 4 to 12%.Even it is highcomparing with other international articles;it’s almost in same results. But lymphaticcomplication is higher than others; it showsneeds of careful and accurate dissection ofrecipient site anastomosing vessels.Conclusion: Multiple renal graft’sveselshave been associated with a higher rateof vascular complications, including arterialstenosis and lymphorrhea. It shows needs ofcareful and accurate dissection of recipientsite anastomosing vessels.

Assessment of biliary complication after liver transplantation in Mongolia / Мэс засал

Introduction: A considerable proportionof adult living donor liver transplantation(LDLT) recipients experience biliarycomplication (BC), but there are few reportsregarding BC based on long-term studies ofa large LDLT population.Methods: The present study examinedBC incidence, from 16 adult and pediatricpatients (14 right liver and 2 left liver graft )between 2011 and 2016 First Central Hospitalof Mongolia.Results: The mean follow-up period was36±1 months. First Central Hospital has DDanastmosis (n=22) double DD (n=2) singlehepaticojejunostomy (n=3). There 3 caseshave biliary stricture after operation. One ofthe 3 cases has biliary laek 2 months laterafter the operation.Conclusion: Close surveillance for BCappears necessary for at least the first 3 yrafter LDLT. In terms of anastomotic stenosisrisk, HJ appears a better choice than DD forright liver grafts involving ducts less than 4mm in diameter.