Journal of The Korean Society of Inherited Metabolic disease
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v.18
no.2
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pp.43-49
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2018
Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.
Kim, Min-Sun;Park, Esther;Song, Ari;Im, Minji;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
Journal of The Korean Society of Inherited Metabolic disease
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v.18
no.3
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pp.99-106
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2018
Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.
This study is aimed at empirically examining the Korean unionists' solidarity using the survey of 476 full-time workers employed at the unionized workplace. It also questions the determinants affecting the unionist' willingness to be united with the contingent workers. The Korean unionism has faced the biggest challenge, that is, the crisis-in-worker solidarity. Although prior literature has noted the crisis in Korean unionism, it lacks a solid investigation of individual workers' perception of solidarity which may play a key role in building up worker-solidarity in the union movement. This study first examines the three sources of solidarity allowing for the historical and theoretical approach to the modern solidarity; economic interests, worker-identification and empathy, which provide an emprical framework for this study. The empirical evidences shows dynamic aspects as of how the full-timers perceive solidarity with the non-regular workers in the three terms of solidarity. First, full-time unionists share rare willingness to be united with contingent workers in terms of economic solidarity. In addition, the KCTU (Korean Confederation of Trade Unions) with social reformative orientation has little influence on increasing their member's orientation towards solidarity. Second, it is found that full-time unionists have more willingness to identify themselves with the non-regular workers as a member of the labor class. The KTCU is also positively associated with their member's will of identification with contingent workers. Third, the unionists, however, show little empathy toward non-regular workers, which is contrast to the willingness to worker identification. No causality is also found between the KTCU and their members' empathy for the others.
The aim of this study was to examine whether the guideline by the Ministry of Environment (ME) successfully and appropriately applied the IUCN Red List criteria at regional level and the rare and endangered national list considered eligible. A certain number of vascular plants, which are widely distributed in the world or in east Asia, deemed to be ineligible for assessment at a regional level as Not Applicable category (NA), because it occurs at very low numbers in South Korea. Among 377 vascular plant taxa evaluated by the ME, NA included 238 species, which represented 63.1%. The number of synonymized species or illegitimate name species were 13 species, which accounted for 3.4%. 21 species (9.3%) were threatened at global level and 103 species were possibly candidates species list for Red List assessments at regional level in the near future. The proportion of NA or waiting list was 66.6% among the list assessed by the ME. The most common errors involved incorrectly application of species extinction in case of population extinction in South Korea to the assessment and provided incorrect interpretation of the Red List criteria at regional level. The most assessments proposed by ME were not backed up without quantitative data quality, justifications, and sources. It is suggested that the risk of extinction should be reassessed at least in the Korean peninsula within the light of their overall distribution including far eastern Russia and North eastern China in north and for Japan and Taiwan in south for regional assessment. The results obtained here using the IUCN criteria at regional level showed that the list proposed by the ME produced an overestimation of the number of threatened vascular plants. Also, the misapplication of the term 'species extinction' for regional assessment was open to some degree of subjectivity and misinterpretation.
Woo, Kyung Sik;Yoon, Seok Hoon;Sohn, Young Kwan;Kim, Ryeon;Lee, Kwang Choon;Lim, Jong Deock
Korean Journal of Heritage: History & Science
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v.46
no.1
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pp.290-317
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2013
The objectives of this study are to investigate the natural heritage and scientific value of various geosites on Udo Island, and to evaluate the sites as natural monuments and as world natural heritage properties. Udo Island includes a variety of geoheritage sites. Various land forms formed during the formation of the Someori Oreum formed by phreatomagmatic eruptions. The essential elements for the formation of Udo Island are the tuff cone, overflowing lava and overlying redeposited tuff sediments. Various coastal land forms are also present. About 6,000 years B.C., when sea-level rose close to its present level due to deglaciation since the Last Glacial Maximum, carbonate sediments have been formed and deposited in shallow marine environment surrounding Udo Island. In particular, the very shallow broad shelf between Udo Island and Jeju Island, less than 20 m in water depth, has provided perfect conditions for the formation of rhodoids. Significant amounts of rhodoids are now forming in this area. Occasional transport of these rhodoids by typhoons has produced unique beach deposits which are entirely composed of rhodoids. Additional features are the Hagosudong Beach with its white carbonate sands, the Geommeole Beach with its black tuffaceous sands and Tolkani Beach with its basalt cobbles and boulders. Near Hagosudong Beach, wind-blown sands in the past produced carbonate sand dunes. On the northern part of the island, special carbonate sediments are present, due to their formation by composite processes such as beach-forming process and transportation by typhoons. The development of several sea caves is another feature of Udo Island, formed by waves and typhoon erosion within tuffaceous sedimentary rocks. In particular, one sea cave found at a depth of 10 m is very special because it indicates past sea-level fluctuations. Shell mounds in Udo Island may well represent the mixed heritage feature on this island. The most valuable geoheritage sites investigated around Udo Isalnd are rhodoid depostis on beaches and in shallow seas, and Someori Oreum composed of volcanoclastic deposits and basalt lava. Beach and shallow marine sediments, composed only of rhodoids, appear to be very rare in the world. Also, the natural heritage value of the Someori Oreum is outstanding, together with other phreatomagmatic tuff cones such as Suwolbong, Songaksan and Yongmeori. Consequently, the rhodoid deposits and the Someori Oreum are worth being nominated for UNESCO World Natural Heritage status. The designation of Someori Oreum as a Natural Monument should be a prerequisite for this procedure.
Roofing tile research conducted in Korea so far is mostly related to studies on roofing tile patterns excavation report on the roof tile klin site in the aspects of archeology architecture and history of art. There have been continuous studies on kiln ground and manufacture techniques of roofing tiles. However it is difficult to find roofing tiles research based on scientific experiments. The research on this paper performs physical and chemical experimental study to understand order, manufacturing techniques and other characteristics of Chosun Dynasty roofing tiles excavated in Dongdaemun stadium. As for physical experimental study water absorption, specific gravity, whole-rock Magnetic susceptibility rate and Differential Thermal Analysis are conducted. As for chemical experimental study, neutron activation analysis(NAA), microstructure observation, X-ray diffractometry(XRD) analysis are conducted. Result of neutron activation analysis and statistical analysis on piece of roof tile 22 samples clearly show that the roofing tile samples are from different time line and places. It also shows different composition when compare average value of rare earth resources per findspots. It means roofing tiles were manufactured from clay mineral from several places. Close inspection using XRD and polarization microscope reveals that main components of roofing tiles are quartz and felspar. Mica and Illite are found partially. XRD analysis shows mullite mineral composition which occurs when roofing tile is calcined around $1000^{\circ}C$. Differential thermal analysis shows gradual exothermic peak near $900^{\circ}C$. Based on these results, it is assumed that roofing tile is made at $900{\sim}1000^{\circ}C$. result of XRD analysis shows mullite were made near $1000^{\circ}C$. in Differential Thermal Analysis shows gradual exothermic peak near $900^{\circ}C$. this results shows that roof tiles were made near 900~1000 near $1000^{\circ}C$ mean value of whole-rock Magnetic susceptibility rate. When performed comparative analysis using whole-rock Magnetic susceptibility rate average value, findspots provided no certain classification to arrange. Nonetheless low whole-rock Magnetic susceptibility rate 0.2~0.78(${\times}103$ SI unit) is found when roofing tile patterns are Pasangmun, Taesangmun, Eosangmun, Kyukjamun, Heongsunmun. Overall absorptivity is 14~21%. It is similar to 14~18% of roofing tile from Chosun Dynasty. There is only 1.4~2.5g/cm3 of roof tile sample specific gravity. The analysis finds no difference in specific gravity by findspots.
Four Wangs' landscape style (四王山水畵風), which had appeared in Beijing in the early 18th century, widely spread to Korea and Japan in the 19th century and became a significant basis for developing new painting styles in both countries. It was first introduced to Korea by Shin Wi (申緯) and Kim Jeong-hee (金正喜) who associated with literary men of the Qing Dynasty. Being influenced by them directly or indirectly, Shin Myeong-yeon (申命淵), Yi Han-cheol (李漢喆), Yu Suk (劉淑), Changv Seung-eop (張承業), An Choog-sik (安中植), and Jo Seok-jin (趙錫晋) attempted to adapt Four Wangs' landscape style and it later became a main Stream painting style of the Korean painting circles. Based on Four Wangs' landscape style, their landscape paintings had something in common in that they captured natural features from a short distance using the Down-Up prospective and placed guardian mountains across mountain streams by making a tall tree in the right or left bottom of the canvas as the starting point. However, recently unveiled court painter An Geon-yeong (1841~1876)'s the Landscape Screen is remarkable in that it is based on Four Wangs' style, which was in fashion in the late 19th century, but shows different aspects from other Four Wangs' style paintings in terms of feature capturing, brush stroke and colors. While most of An Geon-yeong's existing paintings are small ones, this folding screen is a big piece consisting of six-fold landscape paintings. In particular, it shows new aspects by creating a serene and calm atmosphere through the description of various landscape scenes with thin brush strokes using glossy ink, by showing a macroscopic view in some paintings through feature capture using a birds-eye view method, and by giving life to the canvas through smoke and clouds. This painting style is considered to be linked with those of Wang Xue-hao (王學浩, 1754~1832), Tang Yifen (湯貽汾, 1778~1853) and Dai Xi (戴熙, 1801~1860), based on Four Wangs' style in the early 19th century's Jiangnan Circle (江南 畵壇), who tried to express the energy and vitality of real landscapes by going around China's well-known mountains and complementing painting styles with drawing from nature. Therefore, An Geon-yeong's six-fold Landscape Screen is very significant as a rare case proving the introduction and reception of Jiangnan Circle's Four Wangs' landscape style which was different in many aspects from Beijing Circle in the 19th century.
At present, thirteen Buddhist bells of Unified Silla are known to the world: Six in Korea, five in Japan and two other bells, and three out of them are impossible to make out its original form. Therefore, we divided the form of Unified Silla Buddhist bells based on the ten other bells, and we tried out to prove the manufacturing technology by the comparison of the research material of Uncheon-dong bell and existing research materials of other bells, in other to find their linkage based on the alloy elemental composition. We divided Unified Silla Buddhist bell into two types: Type I has symmetric apsaras and regular patterns on its face and it was made in early Silla period; type II has asymmetric apsaras and irregular pattern arrangement and made in late Silla period. In particular, Uncheon-dong Buddhist bells is very similar to Komyoji[光明寺] temple bell from ninth century in Japan. It is peculiar that the apsaras on Uncheon-dong bell play vertical music instruments that are never seen in Unified Silla Buddhist bell. Most of Unified Silla Buddhist bell are compounded with Cu-Sn or Cu-Sn-Pb system. From eighth and ninth century, bells were cast with even composition of copper, tin and lead, and the bronze alloy ratio was similar to the record in Gogonggi[考工記], Jurye[周禮], a book from ancient China. Particularly, Uncheon-dong bell is in a rare case of Cu-Sn-Pb-As system. As had been rarely used in Unified Silla Buddhist bells, so we presented the relative research materials. As has the same nature as Pb. Because As easily volatilize at high temperature, it is hard to use. But it has its merit of solidity and durability. Pb enhances fluidity and thereby expresses the patterns more distinct; As makes the bell stronger. The result of lead isotope ratio could not exactly reveal a concrete producing center. However, over the analysis of our samples, hereby we suggest Uncheon-dong bell was made of materials from just one ore deposit.
Material characteristics and provenance interpretation of the raw materials for the stone moulds of bronze artifacts excavated in Galdong Prehistoric site were studied. The stone moulds are made of igneous hornblendite with coarse-grained holocrystalline textures. The surface color shows greenish grey to dark green with greasy luster. The value of magnetic susceptibility of the moulds ranges from 19.2 to 71.0 (mean ; $39.2{\times}10^{-3}$ SI unit).High value of magnetic susceptibility indicates high contents of magnetite as a ferromagnetic mineral and the wide range of the values are due to heterogeneous distribution of magnetite. These are characteristics of basic igneous rocks. The rock-forming minerals of the moulds mainly consist of amphibole, plagioclase and biotite. Pyroxene, chlorite and opaque minerals are also rarely present. A large quantity of carbon was detected on the dark black crust near the surface of the moulds by quantitative analysis. Geological field survey was carried out to identify a source of the raw materials of the stone moulds around Galdong site. Hornblendite or gabbroic rocks being similar to the moulds forming rock occur at Daeseongri, Sikcheonri and Gyodongri in Jangsoo, and Illdaeri in Namwon about 50 kilometers away from the site in a straight line. They have similarity with the moulds forming rock in magnetic susceptibility ranging from 16.1 to 72.4 (mean ; $39.9{\times}10^{-3}$ SI unit). Among those hornblendite or gabbroic rocks, one in Jangsoo area is the most similar to the moulds forming rock on the basis of petrological and mineralogical characteristics. Comparing normalized patterns of major, minor, rare earth and immobile elements contents of the moulds to them of hornblendite in Jangsoo area, geochemical evolution trend and behavior characteristics show affinities between them. It suggests that the moulds forming rock and hornblendite in Jangsoo area have been originated from cogenetic magma. This hornblendite is easy to engrave an inscription or detail graphics on the surface because of its softness, and has good thermal conductivity. Hornblendite in Sikcheonri, Jangsoo is particularly produced and used for stone wares until the present day. Therefore, it is probable that the stone materials of the moulds has been imported from Daeseongri, Sikcheonri and Gyodongri in Jangsoo area. However, it cannot be completely excluded the possibility that the material of the moulds was supplied from Illdaeri in Namwon area appearing the same type of hornblendite on a small outcrops. It is necessary to carry out further archaeological studies to identify several possibilities of migration process of raw materials.
This study is on management present and improvements on National Records Designation System. National Records Designation System is a system that supports management and preservation of changes of records designated by the government through consideration that such records are worth preserving permanently nationally among records acquired by individual or organization. This system is meaningful in a way that it established systematic foundation to hand down by informatizing historic private records which are in danger to be lost or damaged due to lack of proper care. However, compared to the number of designated records, the information that could be practically drawn from such records are limited. This triggered this study to be launched. National Archive sometimes promotes designation and management of National Designated records. Yet archival information service offering access of user to national designated records are very rare. I conducted survey and interview of managers, field research, and documentary research of 10 records holding institution that keeps national designated records currently. I considered that current management status of National Records Designation System can be figured out minutely through these research. As a result of such research, most of the records holding institutions offered display as their least archival information service. The objective of records informatization was to utilize the records. Also further plans on information service related to records and various utilization were suggested. records holding institution manager did not give positive answer on effect of designating national designated records and cooperation between National Archive. Support to National Archive only focused on preservation. For national designated records holding institution designated after 2011 were not getting proper support. In addition, National Archive's support rarely met records holding institution's need. In such circumstances, things to consider for improvements of National Records Designation System is as following. First, designation of national designated records should be based on the utilization of the record. Each records holding institution's willingness to utilize corresponding records and National Archive's ability to draw the willingness out should be considered. Also, it shouldn't be left as mere complementary policy of National Archive's selecting policy. Second, for National Records Designation System to be managed permanently, it should be changed as the system that supports enhancement of private records management. The aim should point to the direction where private can manage and preserve the records on their own. Third, There needs to be changes on the subject and process of national designated records designation. National designated record is the record that was considered valuable by the government among private records. Thus, such records should be the best one to show private field. Accordingly, records that represent contemporary society and include various states and contents should be chosen to be designated. Moreover, public discussion be formed by citizens and related professionals in order to properly select the record.
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