Identification of STS gene mutation in patient with hereditary ichthyosis / Шинэ санаа Шинэ нээлт

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.

ЭМНЭЛЗҮЙН УРЬДЧИЛАН ТООЦООЛОХ ДҮРМЭЭР НОЙР БУЛЧИРХАЙН ЦОЧМОГ ҮРЭВСЭЛТЭЙ ЭМЧЛҮҮЛЭГЧИЙН ТАВИЛАНГ ТОДОРХОЙЛОХ БОЛОМЖ / Шинэ санаа Шинэ нээлт

Нойр булчирхайн цочмог үрэвсэл, эмнэлзүйн урьдчилан тооцоолох дүрэм, Ranson –ийн шалгуур, APACHE II-ийн шалгуур@#A clinical prediction rule is a type of medical research study in which researchers try to identify the best combination of medical sign, symptoms, and other findings in predicting the probability of a specific disease or outcome. More than 80% of all patients with acute pancreatitis recover promptly without developing severe pancreatitis. The presence of early organ failure (within 24 hours of admission), multiple-organ system failure, and persistent or progressive (present beyond 48 hours after admission) organ failure are associated with prolonged hospitalization, ICU admission, need for surgery, and death. In high developed country, Ranson and APACHE II prognostic criteria are used in order to evaluate patient´s situation and modified treatment tactics. That is give an idea us to carry out retrospective study, by using patients´ documents, who hospitalized in National central hospital in last year. As result, according to Ranson´s criteria 13 (31.7%) of all patients had 0-2 score, which means mortality risk was 1.8%, 20 (48.8%) had 3-4 score (mortality risk is 11%), 8 (19.5%) were estimated 5-6 score, having 33% of mortality risk. Whereas, regarding to APACHE-II criteria 14 (34.2%) of total patients had score of 0-4, showing 4% of mortality risk, 23 (56.1%) were scored 5-9, having 8% of risk, 3 (7.3%) were scored 10-14, having 15% of risk, 1 (2.4%) had 15-19 score, having 24% of risk. Moreover, we determined that incomplete laboratory test, meaning essential prognostic criteria not used in Mongolia.

УРСГАЛ УСНЫ ЧИМЭЭГ ЭМЧИЛГЭЭНД АШИГЛАХ БОЛОМЖ / Шинэ санаа Шинэ нээлт

@#In this study we aimed to check a hypothesis about water sound (WS) effect can stimulate parasympathetic nervous system. A case-control study design was used. The students in control group did not listen WS, whereas students in case groups had been influenced under WSE by 3 different ways, including audio, video and shower. Data base had been obtained by performance of stress test, measurements of systolic and diastolic pressure, and counts of pulse. For statistical analysis, IBM SPSS 20.0 and Graphpad prism 7.0 were used. Interestingly, 92% of total students had stress. There were no differences between groups before WS effect. After WS effect, ANOVA test detected differences in diastolic pressure (ANOVA, F=6.209, p=0.001), stress score (F=15.21, p<0.001). Paired test was utilized to compare mean of values between before and post WS measurements, finding SP (p=0.001), SS (p<0.001) categories. It showed an effective WS influence. Chi-square test indicated that stress level of all students decreased significantly (p<0.001). But there were no differences between 3 methods of water therapy. In conclusion, WS has an effect of stimulation in immune system, useful for some diseases, in which parasympathetic system decrease and sympathetic system increases.