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Introduction@#Hepatocellular carcinoma incidence and mortality per 100,000 population in Mongolia is the highest in the world. The individual’s genetic factors and new genetic changes are considered an important effect on the origin and development cancer. We aimed to investigate whether p53R72P polymorphisms were associated with the risk of hepatocellular carcinoma in Mongolian patients.@*Material and Method@#p53R72P polymorphisms were evaluated in 80 controls and 38 HCC cases using a PCRrestriction fragment length polymorphism assay.@*Results@#The mean age was 58.5±13.6 years in the case group and 63.2±8.1 years in the control group. Hepatocellular carcinoma is most common in 50-59 (n=14, 36.8%) and 60-69 (n=14, 36.8%) ages. Of the HCC group, 4 (10.8%) were diagnosed with tumor at stage II, 23 (62.2%) at stage III, and 11 (27%) at stage IV. </br>The results revealed that the heterozygous (Arg/Pro (PR)) genotype of p53R72P increased statistically significant the risk of hepatocellular carcinoma (OR=4.222, 95% CI 1.669-10.684) compared to the wildtype (R/R) genotype. (p=0.002). Moreover, the homozygous (Pro/Pro (P/P)) genotype of p53R72P increased the risk of carcinoma (OR=1.333, 95% CI 0.414-4.299) but not statistically significant. (p=0.63). Heterozygous (Arg/Pro (PR)) genotype of p53R72P in the tumor tissue was associated with a statistically significant (OR=3.3, 95% CI 1.274-8.57) increase in the risk of HCC (p=0.014). Pro/Pro (PP) genotype increased the risk of the carcinoma by 2.4 times (OR=2.44, 95% CI 0.865-6.908), but it was not significant. (p=0.092). Pro/Pro (PP) genotype of p53R72P in the tumor tissue compared to normal tissue of a case group increased the risk of cancer by 1.8 times (OR=1.833, 95% CI 0.472- 7.126), which was not statistically significant (p=0.382).@*Conclusion@#Taken together, Heterozygous (Arg/Pro (PR)) genotype of p53R72P increases the risk of hepatocellular carcinoma in Mongolians. Further studies with larger populations are needed to confirm these results.
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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.
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Introduction@#After central nervous system injury, microglia cells are activated to initiate inflammatory responses and release cytokines that beneficially or detrimentally affect surrounding cells. Lipopolysaccharide stimulates microglia cells and produce pro-inflammatory cytokines such as interleukin (IL)-1β, IL-6 and tumor necrosis factor (TNF)-α. A dehydrocostus lactone (DDL) which is contained in medicinal plant, Saussurea lappa, is considered to have various health benefits in neurodegenerative diseases of central nervous system. </br> In this study, we aimed to investigate the anti-inflammatory effects of Dehydrocostus Lactone following lipopolysaccharide stimulation of microglial cells in vitro.@*Materials and Method@#The anti-inflammatory effects of dehydrocostus lactone were studied using lipopolysaccharide (LPS) stimulated murine microglia (BV2). BV2 were cultered in DMEM then three different doses (4µM, 8µM and 12µM) of DDL were added in the medium for 30 minutes respectively. Then BV2 were treated with 1 ng/ ml LPS for 24 hours to stimulate. The level of IL-1β, IL-6 and TNF-α were measured in 100µl of culturemedium supernatant by ELISA. Three different doses of DDL anti-inflammation groups (BV2+DDL+LPS), LPS-activated group (BV2+LPS) and control group (only BV2) were analysed. @*Results@#LPS-treated BV2 cells had increased IL-1β, IL-6 and TNF-α compared with those without LPS treatment. Pretreatment with dehydrocostus lactone prior to LPS treatment significantly decreased levels of IL-1β and TNF-α in a dose-dependent manner compared with LPS-treated BV2 cells and 4µM was the most effective anti-inflammatory dose of dehydrocostus lactone. As for IL-6, 12µM dehydrocostus lactone was the most effective anti-inflammatory dose, although all doses significantly decreased the level of IL-6, in a dose-dependent manner. @*Conclusion@#These results show that DDL decrease inflammation related IL-1β, IL-6 and TNF-α in a dose-dependent manner in microglia cells.
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IntroductionThe p53 gene is frequently mutated in various forms of human cancers. The p53 signaling pathway isactivated by endogenous and exogenous stress signals and induces growth arrest, cellular senescenceand apoptosis. A common polymorphism occurs at codon 72 of the p53 has been demonstrated that itmight be associated with bladder cancer risk. However, results of researches related to this topic werecontroversial and more investigations and samples size needed.GoalTo evaluate TP53 Arg72Pro polymorphism in Mongolian patients with bladder cancer.Materials and MethodWe evaluated TP53 Arg72Pro polymorphism in DNA samples from 82 patients with bladder cancerand 82 age and gender matched healthy subjects using polymerase chain reaction-based restrictionfragment length polymorphism. All enrolments of this study were Mongolians. The association betweeneach genotype of TP53 Arg72Pro and bladder cancer risk was examined by the odds ratio and 95%confi dence interval, using logistic regression analysis. The early age onset of bladder cancer patientswas also evaluated among different genotypes of TP53 Arg72Pro.ResultsThe proportion of the polymorphism of TP53 Arg72Pro were RR 53.7% (n=44); PR 34.1% (n=28); andPP 12.2% (n=10) in the bladder cancer patients, whereas RR 52.4% (n=43); PR 28% (n=23); and PP19.6% (n=16) in healthy controls. The PR genotype increased the risk of bladder cancer (OR1.189;95% CI 0.42-0.75; p=0.997) in Mongolian people, whereas PP genotype protected from the cancer(OR=0.610; 95% CI 0.22-0.44, p=0.998) compared to the RR, respectively, however signifi cance isweak. Moreover, there was no association between each genotype of TP53 Arg72Pro (RR=52; PR=54;PP=58) and early onset of bladder cancer in the Mongolian population.Conclusion: Our result indicates that the PR genotype tends to increase the risk of bladder canceramong Mongolians. RR genotype of TP53 Arg72Pro is more prevalent among Mongolians.
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BackgroundThe prepuce (foreskin) is a simple fold of skin formed from an outer keratinized layer and inner mucosallayer, lining a preputial sac and provides functions such as protective, erogenous, and immunologic. Theprepuce is normally non-retractile during neonatal development, as the inner epithelial lining of prepuceand glans adhere each other. Non retractile prepuces are common among young boys and normalpart of preputial development. However, unnecessary circumcision is widely practiced among youngadolescents due to poor understanding of foreskin and lack of medical indication.GoalTo assess preputial retractibility in Mongolian boys at various ages to determine natural process ofpreputial separation.Material and MethodsWe evaluated 1697 Mongolian boys aged 2 to 12. Preputial condition was classifi ed into 5 types basedon preputial retractability: type I-phimosis, type II–partial phimosis, type III–adhesion of prepuce, IV–normal, V–circumcised. We also prospectively evaluated 30 histological materials of patients (2-12 yearsold), who were treated by complete circumcision. The materials were fi xed 10% solution of formalin,embedded in paraffi n, stained with hematoxylin-eosin and examined by 3 pathologists.ResultsThe incidences of type I was 67.9% in 2 years old, 12% in 6years, and 4.1% in 10 years and1.1% in12 years old, respectively. On the contrary, the incidences of type IV were 15.4% in 2 years old, 29.8%in 6 years, 74.7% in 10 years and 91.6% in 12 years. Thecircumcisionswere0% in 2 years old, 5.7%in 6 years old, 2.9% in 10 years old and 5% in 12 years old. Most patients (76.7%) did not have anyhistological alterations of the skin and infl ammatory alteration, not lichen sclerosis, were observed in23.3% in histological examination followed by circumcision.Conclusion: Preputual separation increases with ages in boys and surgical treatment of the phimosisshould be performed with cautions.
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Introduction: It has been suggested thatthe p53 codon 72 genotype is frequentlymutated in many forms of human carcinomas;however, as for renal cell carcinoma (RCC),not all investigations have been consistentand this hypothesized association remainscontroversial. These conflicting resultsmay have arisen due to different patientsubgroups and ethnicities studied. For thefirst time, this study explores the p53 codon72 genotype on Mongolian patients withRCC.Materials and methods: Genomic DNAwas obtained from the peripheral bloodsamples of 87 patients with RCC and 87 ageand gender matched cancer-free Mongolianpeople. p53 codon 72 genotyping wasexamined by PCR-RFLP. The association ofeach genotype with RCC was calculated bythe odds ratio and 95% confidence interval.Results: The proportions of the p53codon 72 genotype of 87 Mongolian patientswith RCC were Arg/Arg 57.5%, Arg/Pro26.4% and Pro/Pro16.1% respectively. Thegenotype proportions of the cancer-freeMongolian people were Arg/Arg50.6%,Arg/Pro 35.6%, Pro/Pro 13.8%, respectively.Compared to the RR genotype, odds ratioand 95% confidence interval of the PR andPP genotypes were OR=0.652 (95% CI. 0.70-0.85; p=0.997) and OR=1.026 (95% CI.0.55-0.71; p=0.998), respectively. Averageages at diagnosis for RCC patients wereRR=49±11.7, PR=51±16.2 and PP=57±12.7respectively.Conclusion: The results indicate thatArg/Arg genotype is the most common genotypein Mongolian patients with RCC and cancerfreepeople. Moreover, current sample sizesuggests thatPro/Pro (PP) genotype of thep53 codon 72 may be associated with therisk of RCC among Mongolians. There wasnot significant difference in average onsetages at diagnosis.
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Introduction: Transurethral resection ofthe prostate (TURP) has been considered asthe gold standard treatment for obstructivevoiding dysfunction in men with benignprostatic hyperplasia. This standard treatmenthas been challenged by consistent datademonstrating the superiority of Holmiumenucleation of the prostate (HoLEP). Wereview summarizes the literature comparingHoLEP to traditional therapies TURP, openprostatectomy (OP) for BPH these are widelyused and have long term efficacy data.Patients undergoing HoLEP have significantshortened catheterization times, decreasedlength of hospital stay, fewer serious postoperativecomplications, greater reduction inpost-operative IPSS, greater improvementsin post-operative Qmax and lower rates ofrepeat endoscopic procedures for recurrentsymptoms compared with TURP and OP.Furthermore, HoLEP can be used to resectmore than 100 grams tissue and it isequivalent efficacy to open prostatectomy.Conclusion: HoLEP as the new goldstandard treatment for surgical BPH therapyfurther. HoLEP remains its difficult learningcurve when compared with traditionaltransurethral resection.
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Introduction: Transurethral resection of the prostate (TURP) has been considered as the gold standard treatment for obstructive voiding dysfunction in men with benign prostatic hyperplasia. This standard treatment has been challenged by consistent data demonstrating the superiority of Holmium enucleation of the prostate (HoLEP). We review summarizes the literature comparing HoLEP to traditional therapies TURP, open prostatectomy (OP) for BPH these are widely used and have long term efficacy data. Patients undergoing HoLEP have significant shortened catheterization times, decreased length of hospital stay, fewer serious postoperative complications, greater reduction in post-operative IPSS, greater improvements in post-operative Qmax and lower rates of repeat endoscopic procedures for recurrent symptoms compared with TURP and OP. Furthermore, HoLEP can be used to resect more than 100 grams tissue and it is equivalent efficacy to open prostatectomy. Conclusion: HoLEP as the new gold standard treatment for surgical BPH therapy further. HoLEP remains its difficult learning curve when compared with traditional transurethral resection.
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BACKGROUND:The mouse double minute 2 (MDM2) is a negative regulator of the p53 tumor suppressor protein.Overexpression of MDM2 is associated with poor survival and is a useful predictive factor for poor prognosisin various cancers in human. Studies revealed a genetic polymorphism located in intron 1 of the MDM2gene, MDM2-SNP309, (a change from T to G) is main functional polymorphism and important to developtumors. However, inconsistent associations between the MDM2-SNP309 and the risk or early onset ageof human different cancers have been reported worldwide. These conflicting results may have dependedon different patient subgroups and ethnicities studies. We studied the association of the MDM2-SNP309polymorphism andbladder cancer in Mongolian patients for the first time.OBJECTIVE:To investigate association between MDM2-SNP309 and the risk bladder cancer or early onset age of thecancer in Mongolian patients.MATERIALS AND METHODS:We genotyped MDM2-SNP309 in 44 patients with bladder cancer and 44 age and gender matched healthycontrols among Mongolian people.Genomic DNA was extracted from whole blood samples by the standardmethod of Qiagen mini blood DNA extraction kit (Qiagen Inc., Valencia, CA) and PCR amplification wasperformed using 100 ng genomic DNA template according to manufacturer’s protocol (Invitrogen, Carlsbad,CA). MDM2 SNP309 genotyping was carried out by restriction fragment length polymorphism assay.RESULTS: The allele frequencies of MDM2 SNP309 in the 44 bladder cancer patients were wild-type (T/T) 27.3%,homozygous (G/G) 34.1% and heterozygous (T/G) 38.6% whereas in the control cases were wild-type(T/T) 29.5%, homozygous (G/G) 20.5% and heterozygous (T/G) 50.0%. The proportion of homozygous(G/G) genotype was higher for bladder cancer cases than for healthy controls. Compared to the low-risk(wild type) genotype, an increased risk association with bladder cancer was shown for the GG genotype(OR=2.0, 95% CI=1.03-1.84). There is also a significant difference in median age onset of bladder cancerbetween GG low and high risk genotypes T/T and T/G (p=0,003)( p=0.0001), respectively (Figure2).CONCLUTION: The current sample data suggests that MDM2 SNP309 GG genotype may be associated withthe risk of bladder cancer as well as an earlier age onset in Mongolian patients with bladder cancer.
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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.