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.