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A Newborn Case of Maple Syrup Urine Disease Type 1B Presenting with Lethargy and Central Apnea (기면과 중추성 무호흡으로 나타난 단풍시럽뇨병 Type 1B 신생아 1례)

  • Kang, Youngtae;Choi, Sung Hwan;Ko, Jung Min;Shin, Seung Han;Kim, Ee-Kyung;Kim, Han-Suk
    • 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.

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An Interpretation of the Landscape Meaning and Culture of Anpyung-Daegun(Prince)'s Bihaedang Garden (안평대군 비해당(匪懈堂) 원림의 의미경관과 조경문화)

  • Shin, Sang-Sup;Rho, Jae-Hyun
    • Journal of the Korean Institute of Traditional Landscape Architecture
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    • v.29 no.1
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    • pp.28-37
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    • 2011
  • In this study, the series-poem, Bihaedangsasippalyoung(48 poems for beautiful scene of Bihaedang), written by scholars of Jiphyonjeon for Bihaedang garden of Anpyung-Daegun(Prince Anpyung, 1416-1453), was analyzed focusing on scenery lexeme to interpret the meaning of scenery and gardening culture of Sadaebu(noblemen) during the first term of Chosun Dynasty. The study result is as followings. First, the subtitle of Sasippalyoung(48 poems) written by Anpyung-Daegun while he grew Bihaedang garden on the foot of Inwang Mountain showed repetitive nomativity comparing joining of yin and yang, such as life and form of animal and plan, time and space, meaning and symbolism, etc. Among scenery lexemes, 38 are represented plant and flowers, and 8 are represented gardening ornaments and animals. Second, the names of gardens were expressed as Wonrim, Jongje, Imchon(Trees and Ponds), or Hwawon(Flower garden), or also presented as Gongjeong(Empty garden), Manwon(Full garden), Jungjeong(Middle garden), Huwon(Backyard), Wonrak(Inner court), or Byulwon(Seperated garden) depending on density and location. In addition, there were pavilions and ponds, stepping stones and stairs, a pergola, a flat bench, flowerpots, an artificial hill, oddly shaped stones, wells, aviary, flower beds, or hedges. A gardener was called Sahwa(flower keeper), planting and gardening of garden trees were called Jaebae(cultivation), a pond island was called Boogoo(floating hill), and miniature landscapes were called Chukjee(reduced land). Third, willows were planted on the outdoor yard, and plum trees were planted in front of the library, which led to bamboo woods road. Peony, camellia, tree peony and crepe myrtle were planted on the inner court with mossy rocks, small artificial hills, glass rocks, flower pots. There were rectangular ponds, while breeding deer, dove, rooster, and cranes. Fourth, landscape elements were enjoyed as metaphysical symbolic landscape by anthropomorphism, such as (1) gentlemen and loyalty, (2) wealth and prosperity, (3) Taoist hermit and poetical life, (4) reclusion and seclusion, (5) filial piety, virtue, introspection, etc. In other words, the garden presented a variety of gardening culture appreciating meaningful landscape, such as investigation of things, reclusion and seclusion, and building orientation of a fairyland yearning eternal youth and Mureungdowon(Taoist Arcadia) by making a garden blending beautiful flowers and trees, with precious birds and animals. Fifth, there were many landscape appreciation schemes, such as Angkyung(looking-up), Bukyung(looking-down), Jeokyung(looking-under), Chakyung(bringing outer space into inside), Yookyung(flower viewing), Yojeong(walking around the garden enjoying flowers), Hwasaekhyangbyuk(flower gardening), and Garden appreciation enjoying landscape through time and seasons with different inspirations.

Studies on the Kiln Drying Characteristics of Several Commercial Woods of Korea (국산 유용 수종재의 인공건조 특성에 관한 연구)

  • Chung, Byung-Jae
    • Journal of the Korean Wood Science and Technology
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    • v.2 no.2
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    • pp.8-12
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    • 1974
  • 1. If one unity is given to the prongs whose ends touch each other for estimating the internal stresses occuring in it, the internal stresses which are developed in the open prongs can be evaluated by the ratio to the unity. In accordance with the above statement, an equation was derived as follows. For employing this equation, the prongs should be made as shown in Fig. I, and be measured A and B' as indicated in Fig. l. A more precise value will result as the angle (J becomes smaller. $CH=\frac{(A-B') (4W+A) (4W-A)}{2A[(2W+(A-B')][2W-(A-B')]}{\times}100%$ where A is thickness of the prong, B' is the distance between the two prongs shown in Fig. 1 and CH is the value of internal stress expressed by percentage. It precision is not required, the equation can be simplified as follows. $CH=\frac{A-B'}{A}{\times}200%$ 2. Under scheduled drying condition III the kiln, when the weight of a sample board is constant, the moisture content of the shell of a sample board in the case of a normal casehardening is lower than that of the equilibrium moisture content which is indicated by the Forest Products Laboratory, U. S. Department of Agriculture. This result is usually true, especially in a thin sample board. A thick unseasoned or reverse casehardened sample does not follow in the above statement. 3. The results in the comparison of drying rate with five different kinds of wood given in Table 1 show that the these drying rates, i.e., the quantity of water evaporated from the surface area of I centimeter square per hour, are graded by the order of their magnitude as follows. (1) Ginkgo biloba Linne (2) Diospyros Kaki Thumberg. (3) Pinus densiflora Sieb. et Zucc. (4) Larix kaempheri Sargent (5) Castanea crenata Sieb. et Zucc. It is shown, for example, that at the moisture content of 20 percent the highest value revealed by the Ginkgo biloba is in the order of 3.8 times as great as that for Castanea crenata Sieb. & Zucc. which has the lowest value. Especially below the moisture content of 26 percent, the drying rate, i.e., the function of moisture content in percentage, is represented by the linear equation. All of these linear equations are highly significant in testing the confficient of X i. e., moisture content in percentage. In the Table 2, the symbols are expressed as follows; Y is the quantity of water evaporated from the surface area of 1 centimeter square per hour, and X is the moisture content of the percentage. The drying rate is plotted against the moisture content of the percentage as in Fig. 2. 4. One hundred times the ratio(P%) of the number of samples occuring in the CH 4 class (from 76 to 100% of CH ratio) within the total number of saplmes tested to those of the total which underlie the given SR ratio is measured in Table 3. (The 9% indicated above is assumed as the danger probability in percentage). In summarizing above results, the conclusion is in Table 4. NOTE: In Table 4, the column numbers such as 1. 2 and 3 imply as follows, respectively. 1) The minimum SR ratio which does not reveal the CH 4, class is indicated as in the column 1. 2) The extent of SR ratio which is confined in the safety allowance of 30 percent is shown in the column 2. 3) The lowest limitation of SR ratio which gives the most danger probability of 100 percent is shown in column 3. In analyzing above results, it is clear that chestnut and larch easly form internal stress in comparison with persimmon and pine. However, in considering the fact that the revers, casehardening occured in fir and ginkgo, under the same drying condition with the others, it is deduced that fir and ginkgo form normal casehardening with difficulty in comparison with the other species tested. 5. All kinds of drying defects except casehardening are developed when the internal stresses are in excess of the ultimate strength of material in the case of long-lime loading. Under the drying condition at temperature of $170^{\circ}F$ and the lower humidity. the drying defects are not so severe. However, under the same conditions at $200^{\circ}F$, the lower humidity and not end coated, all sample boards develop severe drying defects. Especially the chestnut was very prone to form the drying defects such as casehardening and splitting.

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A Study on the Tree Surgery Problem and Protection Measures in Monumental Old Trees (천연기념물 노거수 외과수술 문제점 및 보존 관리방안에 관한 연구)

  • Jung, Jong Soo
    • Korean Journal of Heritage: History & Science
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    • v.42 no.1
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    • pp.122-142
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    • 2009
  • This study explored all domestic and international theories for maintenance and health enhancement of an old and big tree, and carried out the anatomical survey of the operation part of the tree toward he current status of domestic surgery and the perception survey of an expert group, and drew out following conclusion through the process of suggesting its reform plan. First, as a result of analyzing the correlation of the 67 subject trees with their ages, growth status. surroundings, it revealed that they were closely related to positional characteristic, damage size, whereas were little related to materials by fillers. Second, the size of the affected part was the most frequent at the bough sheared part under $0.09m^2$, and the hollow size by position(part) was the biggest at 'root + stem' starting from the behind of the main root and stem As a result of analyzing the correlation, the same result was elicited at the group with low correlation. Third, the problem was serious in charging the fillers (especially urethane) in the big hollow or exposed root produced at the behind of the root and stem part, or surface-processing it. The benefit by charging the hollow part was analyzed as not so much. Fourth, the surface-processing of fillers currently used (artificial bark) is mainly 'epoxy+woven fabric+cork', but it is not flexible, so it has brought forth problems of frequent cracks and cracked surface at the joint part with the treetextured part. Fifth, the correlation with the external status of the operated part was very high with the closeness, surface condition, formation of adhesive tissue and internal survey result. Sixth, the most influential thing on flushing by the wrong management of an old and big tree was banking, and a wrong pruning was the source of the ground part damage. In pruning a small bough can easily recover itself from its damage as its formation of adhesive tissue when it is cut by a standard method. Seventh, the parameters affecting the times of related business handling of an old and big tree are 'the need of the conscious reform of the manager and related business'. Eighth, a reform plan in an institutional aspect can include the arrangement of the law and organization of the old and big tree management and preservation at an institutional aspect. This study for preparing a reform plan through the status survey of the designated old and big tree, has a limit inducing a reform plan based on the status survey through individual research, and a weak point suggesting grounds by any statistical data. This can be complemented by subsequent studies.