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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.
ABSTRACT
Introduction@#In the United States, Staphylococcus aureus (S.aureus) is considered one of the top five pathogens causing domestically acquired foodborne diseases and is responsible for an estimate of 241,000 illnesses per year. Foods that have been frequently implicated in Staphylococcal food-borne disease are meat, meat products, egg products, milk, dairy products, salads and bakery products. β-lactam antibiotics are routinely prescribed for treating S. aureus caused infections, but antibiotic resistance is increasing at an alarming rate.@*Aim@#Detection of virulence factors and antibiotic resistance in S.aureus isolated from retail beef@*Materials and Methods @#A total of 100 meat samples were collected from markets including Kharkhorin 28, Bars 4, Bayanzurkh 15, Huchit shonkhor 33, Denjiin myanga 4 and Bumbugur 16. S.aureus strains were determined on the basis of MNS 6308:2012 standard using Baird-Parker selective agar and confirmed by polymerase chain reaction (PCR) in retail beefs. Bacterial susceptibility to antimicrobial agents determined by the Kirby Bauer disk diffusion method.@*Results@#Overall, 81% meat samples were contaminated with staphylococcal of which 54.3% were low, 28% were moderate, 11.1% were high and 6.1% were very high. PCR amplification of the thermostable nuclease-encoding nuc gene using the gene-specific primers and the chromosomal DNA preparation yielded a 270 bp amplicon, as expected and 35 (43.2%) confirmed as S. aureus. According to the findings of the current study, S.aureus strains isolated from the beef were high resistant (88.6% -97.1%) to antibiotics of penicillins group and low resistant (8.6%) to chloramphenicol. In total, 48.6% of isolates were multidrug resistant.@*Conclusion@#The contamination of staphylococcal was high in retail beef in Ulaanbaatar. Most S.aureus isolates exhibited resistance to a antibiotics of penicillin group. The half of the isolates were multidrug resistant and high virulence.
ABSTRACT
BackgroundHuman vitamin D status primarily depends on skin exposure to the ultraviolet B (UVB) spectrum of the sunlight.Despite the many days of sunshine in Mongolia, the northern latitute means that much of the UVB is filteredout as it passes through the atmosphere. Studies of Mongolian infants, schoolchildren, and pregnant womenreveal prevalent and profound vitamin D deficiency in the winter months in Mongolia. To date, there has notbeen a single study of the vitamin D levels of Mongolian men, and no studies of working age women outside ofUlaanbaatar. The goal of this study is to determine Vitamin D levels among Mongolian working age populationin different geographical areas, in different seasons, and in different work settings.MethodsThis cross-sectional study was conducted among 120 healthy adults, recruited by a multistage clustersampling method in Ulaanbaatar, South Gobi, and Bulgan. Each participant was tested for serum 25(OH)Dconcentrations, twice in winter and summer. Samples were measured by ELISA. The paired sampling (120summer samples/120 winter samples total 240 samples) frame allowed us to compare an individual’s winter25(OH)D levels to their own summer 25(OH)D levels, avoiding any confounding by differences betweenindividuals. A paired T-test (two sided) with unequal variances was used to test for differences in 25(OH)Dlevels among study groups.Results95% of all participants were Vitamin D deficient (<20 ng/ml) in winter, 24% deficient in summer (p < 0.001).The mean winter serum 25(OH)D levels were (±SD) 10.7±5.3 ng/ml, which were doubled in the summer to(±SD) 26.1±8.1 ng/ml. In all three regions, men and women had similar mean 25(OH)D levels. In Ulaanbaatar,office workers had higher winter 25(OH)D levels than urban outdoor workers. Surprisingly, office workersin the Gobi had higher 25(OH)D levels than nomads in both winter and summer. In Bulgan, there were nodifferences between office workers and nomads in any season.ConclusionWe observe that low vitamin D levels are more prevalent in our winter samples of healthy working age adults.The prevalence of vitamin D deficiency is very high amongst the adult population. These data suggest a needto increase vitamin D intake either through improved fortification and/or supplementation.