Mongolian blue spots are birthmarks that are present at birth and their most common location issacrococcygeal or lumbar area. There are macular and round, oval or irregular in shape. Lesionsmay be single or multiple. They usually spontaneously regress and disappear during childhood.The prevalence of Mongolian blue spots varies among different ethnic groups according to theoverall depth of pigmentation. Mongolian blue spots are common among Asian, East Indian, andAfrican races, but rare among Caucasian and other races. Mongolian blue spot is a congenital,developmental condition exclusively involving the skin. Mongolian blue spot results from entrapmentof melanocytes in the dermis during their migration from the neural crest into the epidermis. Thismigration is regulated by exogenous peptide growth factors that work by the activation of tyrosinekinase receptors. It is postulated that accumulated metabolites such as GM1and heparin sulfatebind to this tyrosine kinase receptor and lead to severe neurologic manifestations and aberrantneural crest migration.

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.

The purpose of the present study was to elucidate genealogical and clinical features of hereditary neuropathy in the several kindreds of Gobi-Altai province.Materials and Methods: In the present study, we investigated five kindreds originated from Bayan-Uul sum, Gobi-Altai province on the basis of previous surveys. Each participant was enrolled for genealogical and neurological examinations according to specific questionnaire. We also collected biological samples for further genetic study. Genomic DNA was isolated from biological samples, and quantitative analysis of DNA was determined by spectrophotometer and Picogreen assays.Results: Twenty members from five kindreds were investigated. Genealogical analysis revealed that there is a linkage between two kindreds within the families enrolled into study, whereas no association was revealed among the other pedigrees. As a phenotype of the hereditary neuropathy, the clinical features were inherited in every generation, and the inheritance was not dependent on the gender. In neurological examination, age of hereditary neuropathy onset was detected as follows. The clinical features appeared in the first decade of life in 4 patients, in the second decade of life in 5 patients, and for the other members the disease started in the age of over 20 years. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Interestingly five female patients had similar gynecological problems. Conclusions:1. The hereditary neuropathy exists in the kindreds of Bayan-Uul sum, Gobi-Altai province and the type of inheritance could be categorized as autosomal dominant.2. Onset of hereditary neuropathy disease was started mostly in the second decade of life. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Apart from general clinical features, the specific complications related to metabolic disorders and pregnancy was detected.

Introduction: The complete blood count (CBC) is a frequently performed laboratory test today. This study evaluated the effects of temperature and sample storage time on parameters of CBC which could produce misleading results of clinical significance. Methods: In a cross-sectional study, CBC was checked in 20 randomly selected out-patients and baseline measurements were analyzed using the XN-2000 (Sysmex, Kobe, Japan) fully automated hematology analyzer. CBC was done all samples of storage at room temperature. Values were checked at time intervals of 0, 6, and 24 hr. Results: Among CBC parameters, white blood cell, red blood cell, hemoglobin, mean cell hemoglobin (MCH), neutrophils and lymphocytes were stable at time up to 6 h. Hematocrit increased between 0 and 24 hours, averaging 41.5% and 45.2%, respectively. MCV, RDW-SD, and RDW-CV increased between 0 and 24 hours. The mean value was statistically significant. There were 85.6fL/ 93.4fL (p<0.001), 40.7fL /48.2fL (p<0.001), 13.1% and 14.2% (p<0.05), respectively.
However, the MCHC was affected by time differences. (p <0.001 at 0 and 24 hours, p <0.001 at 3 and 24 hours). Platelet PDW, MPV, and P-LCR values increased between 0 and 24 h, respectively. Conclusion Whole blood samples were stored at room temperature for 24 hours for CBC tests, there were statistically significant differences in the size of red blood cells and platelets.

Introduction: The traditional microscopic method is to visually count the elements in the urine, but it is difficult to distinguish between the cells because they are not stained. Sternheimer Malbin staining, on the other hand, contains a variety of dyes that help to distinguish elements in urine sediment, improve the differentiation between cell nuclei and cytoplasm, provide more information about cell shape and image, and make it easier to differentiate kidney disease. Objective: To study the results of the reading of a fully automatic urine sediment analyzer of compared with the Sternheimer Malbin stained bright field microscope method. Research materials and methods: In this study included 150 people who served the MJTH of the MNUMS received permission to participate in the research. The urine sample collected in accordance with the standard operating instructions was counted by a fully automated analyzer and stained with Sternheimer Malbin dye and counted red cells (RBC), white blood cells (WBC), epithelial cells (EC), and renal epithelium (RTEC) under a microscope using a Fuchs-Rosenthal chamber. Results: 23.3% (n=35) of the respondents were male, 76.6% (n=115) were female, and the average age was 44.3±11.6. There 16.6% (25)/9.3% (14) of the RBCs were counted in excess of the reference volume when analyzed under an microscope stained with an automated urine sediment analyzer and Sternheimer-Malbin dye. For each WBC method, 45.4% (68)/41 (61)% and EC 24.7% (37)/23.3% (35) were counted above the reference volume. 90% (135)/32% (48) of the total samples were counted in excess of the RTEC reference volume. Comparing the performance of the automatic urine sediment analyzer with the light microscope method, the sensitivity and specificity were RBC-99.8%/99.1%, WBC-99.3%/99.6%, EC-99.7%/99.2, and RTEC-99.1%/99.2%. False-positive and false-negative results were rated for each RBC-99.9%/99.1%, WBC-99.3%/99.6%, EC 99.8%/99.2%, and RTEC-99.7%/99.9%, respectively. The positive likelihood ratio was RBC, WBC, RTEC 1.0, or the test was useless, while the negative likelihood ratio was RBC was very different, WBC was slightly different, EC was very different, and RTEC was very different. Positive and negative predictive value indicators RBC-99.3%/99.4%, WBC-99.4%/99.4%, EC-99.4%/99.5, RTEC-99.2%/99.1%, optimality for RBC, WBC, EC 99.4%, RTEC -99.1%. Conclusion
1. The results of an automated urine sediment analyzer and a bright field microscope stained by Sternheimer Malbin were similar for red blood cells, white blood cells, and epithelial cells, but different for renal tubular epithelial cells.
2. The resuls UF-5000 analyzer and bright field microscope analysis using Sternheimer Malbin dye were comparable.

Background: Chronic kidney disease (CKD) is a global health problem. In Mongolia, urine is analyzed by methods of urine chemistry and urine sediment to diagnose kidney disease. The currently automated urine sediment analyzers have been widely used in clinical laboratories and are replacing traditional manual microscopic examination. Nonetheless, visual microscopic examination is still required in many cases. When chemical and sediment analyzers are used together, urine sediment could be confirmed under a microscope, if the results are inconsistent. Sternheimer-Malbin stain has contained a variety of dyes that help to distinguish particles (white blood cells, red blood cells, epithelial cells, casts, crystals, fatty drops, bacteria, yeast, trichomonas) in urine sediment, improve the differentiation between cell nuclei and cytoplasm, and provide more information about cell shape and image.
Therefore, the low-cost method that can be used on a daily basis.Although there are more than 4,500 laboratories in Mongolia that need to perform urinalysis, which is an important part of clinical laboratories, less than 10 percent of hospitals have fully automated sediment analyzers. For this reason, one of the most important issues in the clinical laboratories, the search for low-cost and useful methods for the analysis of urine sediments in order to provide access to services to the public. Our aim was the comparison of methods of the microscopic examination with Shternheimer-Malbin stain and fully automated UF-5000 analyzer for urine sediment. Methods: There was a comparative study, people who served the Clinical Central Laboratory of Mongolia-Japan Hospital received permission to participate in this research. One hundred five fresh, first morning, clean catch mid-stream urine samples were collected in accordance with standard operating instructions for urinalysis, between November 2020 and May 2021. Sternheimer-Malbin (SM) staining and direct microscopy observation methods with Fuchs-Rosenthal counting chamber were used to red blood cells (RBC), white blood cells (WBC) and epithelial cells (EC) in urine samples. The agreements between the automated urine analyzer and microscopic methods were calculated using Cohen’s kappa (k) with 95% confidence intervals (CI). Results: A total of 105 samples were collected and analysed in this study. The average age was 46.97±15.0and gender by 18% (n=19)were male and 82% (n=86) were female.
Compared to traditional manual methods and automated analyzer, the agreement within the same grade was 99/105 (94.3%) for erythrocytes, 96/105 (91.4%) for leukocytes, 92/105 (87.6%) for epithelial cells. And compared to Sternheimer-Malbin staining microscopy observation and automated analyzer, the agreement within the same grade was 98/105 (93.3%) for erythrocytes, 99/105 (94.3%) for leukocytes, 96/105 (91.4%) for epithelial cells. Agreement between traditional manual method and automated analyzer was higher than 85% and between Sternheimer-Malbin staining microscopy observation and automated analyzer was higher than 90%. The concordance between traditional manual method and automated analyzer was substantial (k=0.74, p<0.001; k=0.79, p<0.001) for RBC and EC, almost perfect (k=0.92, p<0.001) for WBC. Whereas the concordance between SternheimerMalbin staining microscopy observation and automated analyzer was substantial (k=0.70, p<0.001) for RBC, almost perfect (k=0.94, p<0.001; k=0.89, p<0.001) for WBC and EC. Comparison of Sysmex UF-5000 with microscopic particle counting methods resulted specificity was 98.9/100% for RBC, sensitivity was 97.7/95.3% and negative predictive value was 98.4/96.8% for WBC, sensitivity was 87.5/68.8% and negative predictive value was 97.8/94.7% for EC. Conclusion The Cohen’s k analysis result of comparisons between the SternheimerMalbin staining microscopic method and automated urine sediment analyzer showed significant almost perfect agreement (k=0.70-0.94, p<0.001).
The sensitivity and negative predictive value were high for both of WBC and EC were determined by Sternheimer-Malbin (SM) staining microscopy observation method. Results indicate the ability of a test to correctly identify those with the true positive and individual with a negative test result is truly negative better than comparison of Sysmex UF-5000 with traditional manual microscopic method assessment.

Introduction: Base excision repair (BER) is mainly responsible for the correction of small base changes of DNA damage. BER pathway involved many enzymes including OGG1 and XRCC1. The defective DNA repair is associated with an increased risk of various cancers including hematologic malignancies-leukemia and myelodysplastic syndrome (MDS). However, it is deniably these polymorphisms alter the susceptibility and clinical outcome of MDS patients. The aim: This study was to evaluate the impact of polymorphisms in gene encoding one protein of BER system: XRCC1 Arg399Gln in MDS and healthy population. Methods: In this study, we recruited 60 health control group [median 47.9 years, 9 MDS subjects [median 56.6 years] were included in this study. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Allele and genotype frequencies were calculated by direct counting. Result: The frequencies of genotypes of XRCC1 Arg399Gln were as follows: Arg /Arg 1 (11%), Arg/Gln 6 (66%), Gln/Gln 2 (22%) in MDS and Arg /Arg 18.4%, Arg/Gln40%, Gln/Gln41.6% in health control for XRCC1 Arg399Gln. The result revealed that genotypes Arg399Gln increased the risk of MDS In conclusion this study is the first to analyze XRCC1 SNPs and their associated risk of MDS in Mongolian samples. To fully understand the role of DNA damage and DNA repair in the MDS, prospective studies are needed and other genes (OGG1 Ser326Cys, MUTYH Gln324His, APE Asp148Glu) of base excision repair pathway should be analyzed.

Background and Aims: Hepatocellular carcinoma (HCC) is a common cause of cancer related death in Mongolia. Early diagnosis is the very important management to increase successful treatment and survival rate. Glypican-3 (GPC3) protein is highly expressed in hepatocellular carcinoma (HCC) tissue and in serum of HCC patients. Recent studies have been conducted and suggested as a diagnostic biomarker for detecting HCC in the early stage. Therefore, we investigated the diagnostic value of the serum GPC3 level and compared it to the alpha-fetoprotein (AFP) level as a diagnostic biomarker of HCC. Methods: We enrolled a total of 90 participants and divided into 3 groups with HCC (30), with liver cirrhosis (LC/30) and healthy (30) as the control group (30). GPC3 and AFP serum (sGPC-3, sAFP) levels were measured using commercially available enzyme-linked immunosorbent assay kits. The diagnostic accuracy was analyzed using the receiver operating characteristics (ROC) curve and estimated sensitivity and specificity of each biomarker. Results: sGPC3 was significantly elevated in the HCC group as compared to liver cirrhosis and healthy subjects (658±138.2 pg/ml, 378±25.5 pg/ml, 356.3±29 pg/ml) respectively. sGPC-3 sensitivity was 96.6% and specificity was 100%. The area under the ROC curve (AUC) for GPC3 was 0.999 (0.996- 1.0).
In comparison, the mean of AFP was significantly higher in HCC (16.9±11.7 ng/ml) than in LC (6.7±7.6 ng/ml) and in healthy subject (3.3±2.1 ng/ml) and AFP sensitivity was 43,3 %, specificity was 95 % with an AUC of 0.808 (0.696- 0.921).
The combination of GPC-3 with AFP achieved the highest sensitivity (97.1%) and specificity (97%). Conclusion Serum GPC3 has a higher sensitivity than AFP for the early diagnosis of HCC. Combination of two markers showed greatest diagnostic accuracy.

Research of function of vitamin D on immune system has been studying since the study revealed that vitamin D receptor is expressed on the surface of the immune cells. 1,2-dihydroxyvitamin D3 [1,25(OH)2D], physiologically active form, can be generated through hydroxylation of 25-hydroxyvitamin D3 [25(OH)D], inactive form of vitamin D, in a liver, connecting with specific VDR make biological action. Vitamin D make different biological actions depends on connecting with different immunological cells. Some studies indicated that Vitamin D plays pivotal role in antibacterial innate immune responses through regulating reaction of the main cells as macrophages and dendritic cells. Moreover, calcitriol, the active form of vitamin D, is connected with VDRE, modulates the innate immune response through directly inducing expression of catelicithin and β-defensin as antimicrobial peptides, reducing secretion of IL-1b, IL-6, TNF-a, RANKL, COX-2 as proinflammatory cytokines and increasing production of IL-10, an anti-inflammatory cytokine. Vitamin D plays in proliferation and differentiation of T and B cells and regulates the activities of over 500 genes. Vitamin D differently impacts on per se stages of T cells’ proliferation. Vitamin D indirectly mitigates the differentiation from immature B cells to plasma B cells while it directly impacts on regulation of overloaded production of antibodies in plasma B cells. In conclusion, vitamin D modulates the innate- and adaptive immune response through regulation on activation of APCells, proliferation and differentiation of immune cells, secretion of some antibacterial peptides.