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Clinical Features, Response to Treatment, Prognosis, and Molecular Characterization in Korean Patients with Inherited Urea Cycle Defects

  • Yoo, Han-Wook;Kim, Gu-Hwan;Seo, Eul-Ju
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.2 no.1
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    • pp.77-79
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    • 2002
  • The urea cycle, consisting of a series of six enzymatic reactions, plays key roles to prevent the accumulation of toxic nitrogenous compound and synthesize arginine de novo. Five well characterized diseases have been described, resulting from an enzymatic defect in the biosynthesis of one of the normally expressed enzyme. This presentation will focus on two representative diseases; ornithine transcarbamylase(OTC) deficiency and citrullinemia(argininosuccinate synthetase deficiency). OTC deficiency is one of the most common inborn error of urea cycle, which is inherited in X-linked manner. We identified 17 different mutations in 20 unrelated Korean patients with OTC deficiency; L9X, R26P, R26X, T44I, R92X, G100R, R141Q, G195R, M205T, H214Y, D249G, R277W, F281S, 853 del C, R320X, V323M and 10 bp del at nt. 796-805. These mutations occur at well conserved nucleotide sequences across species or CpG hot spot. The L9X and R26X lead to the disruption of leader sequences, required for directing mitochondrial localization of the OTC precursor. Their phenotypes are severe, and neonatal onset. The G100R, R277W and V323M mutations were uniquely identified in patients with late onset OTC deficiency. The other genotypes are associated with neonatal onset. Out of 20 patients with OTC deficiency, only 6 patients are alive; two were liver transplanted, and normal in growth and development at 2, 4 years after transplantation respectively. Citrullinemia is an autosomal recessive disease, caused by the mutations in the argininosuccinate synthetase(ASS) gene. We identified in 3 major mutations in 11 unrelated Korean patients with citrullinemia; G324S, $IVS6^{-2}$ A to G, and 67 bp ins at nt 1125-1126. Among these, the 67 base pair insertion mutation is novel. The allele frequency of each mutation is; G324S(45%), IVS6-2 A to G(32%), and 67 base pair insertion(14%). All patients are diagnosed at neonatal or infantile age. Interestingly, two patients presented with stroke like episode. Out of 11 patients, 5 patients died. Among 6 patients alive, one patient was successfully liver transplanted.

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The Study of Aerial Triangulation Using GPS (GPS를 이용한 사진기준점 측랑에 관한 연구)

  • 이재원;문두열;김정희;김진수
    • Spatial Information Research
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    • v.12 no.2
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    • pp.181-191
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    • 2004
  • Nowadays, GPS-photogrammetry can be applied to the basemap production, a land register and NGIS. And from now on, as the increase of GPS receiver rate, the study on the interpolation methods considering the exact movement of an aircraft at photoflight and the study on the supplement of GPS defect by INS are required continuously. GPS-Photogrammetry, which are based on the direct measurement of the projection centers and attitude at the moment of camera exposure time through loading the GPS receiver in aircraft. This photogrammetric methods can of for us to acquire the exterior orientation parameters with only minimum ground control points, even the ground control process could be completely skipped. Consequently, we can drastically reduce the time and cost far the mapping process. In this thesis, two test flights were conducted in area to evaluate the performance of accuracy and efficiency through the analysis of results between the two photogrammetric methods, that is, traditional photograrammetry, GPS-Photogrammetry. Test results shows that a large variety of advantages of GPS-Photogrammetry against traditional photogrammetry is to be verified. Especially, the number of ground control points for the exterior orientation could be saved more than 70~80%, and the cost far map production 30~50%, respectively. In addition, it was convinced that the large reduction of control points has not any effect on the block accuracy.

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Evaluation of Absorbed Dose according to the Use of Bolus in Opposite Breast during Radiation Therapy of Breast Cancer using VMAT (VMAT를 이용한 유방암 방사선치료 시 반대편 유방의 Bolus 사용에 따른 흡수선량 평가)

  • Kim, Jong-Bo;Shin, Sang-Hwa
    • Journal of the Korean Society of Radiology
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    • v.12 no.6
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    • pp.763-768
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    • 2018
  • Although the development of radiation therapy techniques has made the treatment more precise, exposure by radiation is unavoidable beyond the treatment site. In this study, we wanted to evaluate the absorbed dose according to the thickness of the bolus on the opposite side of the treatment in radiation treatment for breast cancer and to analyze the effect of dose reduction. An experiment was conducted on Rando phantom using VMAT treatment methods. Five points of A, B, C, D, and E were selected for the breast opposite the treatment, and when the dosimeters of 5, 10, 15, and 20 mm were used. The highest absorbed dose at point D closest to the treatment point was measured and lowest at point B furthest from the treatment point. The mean absorbed dose was 8.61 cGy When the bolus is not used and 8.10, 7.94, 8.06, and 8.10 cGy Depending on the thickness of the bolus. In this study, bolus was intended to be used to analyze the dose-reducing effects of breasts on the other side of the treatment. The results of the study showed the effect of dose reduction and the appropriate bolus thickness should be set up to reduce the dose in normal tissues.

Grain Yield and Nitrogen Use Efficiency due to Long-Term Fertilization in Paddy Rice (동일비료(同一肥料) 장기운용(長期連用)에 따른 벼의 수량과 질소이용효율(窒素利用效率))

  • Yun, Eul-Soo;Choe, Zhin-Ryong;Jung, Yeun-Tae;Park, Kyeong-Bae;Lee, Jae-Saeng
    • Korean Journal of Soil Science and Fertilizer
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    • v.32 no.2
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    • pp.109-114
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    • 1999
  • This study was carried out to obtain some information on the sustainability of paddy rice through the long-term variation of nitrogen use efficiency. The experiment was conducted during 30-year with the same amount of N, P, K and compost at Milyang, southern part of Korea. The results were as follows. Grain yield was increased significantly in the plots of compost incorporation only. However, yield productivity was decreased slightly in the plots with nil and unbalanced fertilization. The effects of rice straw compost on grain yield was not clear at the early crop years but was shown slightly at the late period of the experimental. The grain yield in the plots of compost incorporation at 30th crop year was come to about 80% of NPK plots. The amount of nitrogen uptaken by rice plant was the highest as $167kg\;ha^{-1}$ in NPK plus compost incorporation. Recovery efficiency)($RE_N$) was higher as 0.48~0.74 in compost incorporation plots than in other plots of balanced and unbalanced application. Average agronomic efficiency($AE-N$) and partial factor productivity from N fertilizer applied($PFP_N$) during 30 crop years in NPK plots was 12.8 kg/kg N and 37.7 kg/kg N, respectively, and difference of $AE-N$ and $PFP_N$ shown as indigenous soil nitrogen supply(INS) was higher as 28.4 kg/kg N in NPK + compost plot than NPK plot and was widened at the late period of experiment.

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AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III

  • Ko, Jung-Min;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.72-79
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    • 2007
  • Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

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Microscopic Study of the Pig Peri-implantation Embryos (전자현미경에 의한 착상 전후 돼지수정란의 형태학적 변화에 관한 연구)

  • 김진회;백청순;이훈택;정길생
    • Korean Journal of Animal Reproduction
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    • v.18 no.2
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    • pp.141-150
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    • 1994
  • Morphological features of the interaction between the hatching blastocyst and implantation in pig were studied by electron microscopy. The observations extended from late blastocyst stage to the completion of trophoblastic erosion of the epithelium and early decidual transformation of the epithelium and early decidual transformation of the stromal cells. Between day 7 and 17 of pregnancy, blastocysts from 0.3 to 12 mm in diameter were flushed from the uterine horns of Dutch Landrace pigs. On the 7th of development in the pig blastocyst, the blastocyst shedded of the zona pellucida established the tips of microvilli and with bleb-like cytoplasmic protrusions of the epithelial cells. From day 11 on in pig embryo, the bilayered trophoblast undergoes a dramatic phase of elongation so that the initially spherical expanded blastocyst becomes tubular. In pig, close apposition to the uterine wall beg-ins at about 12 $^1$/$_2$ days and then attachment occurred during the afternoon of the 16th or 18th day post coitum. At this stage, embryonic loss compared with corpus luteum number is up to 40% of ovulated oocytes. Therefore, the implantation failture of these embryos may be mainly caused by morphological abnormality and failture of zona shedding.

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STUDY ON THE INFLUENCE OF POLYOL ON MICROEMULSION GEL SYSTEM (Microemulsion gel system에 있어서 Polyol의 효과에 관한 연구)

  • Youn, J.;Jin, P.K.
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.18 no.1
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    • pp.132-149
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    • 1992
  • This study relates to a microemulsion gel which is applied in various cosmetic preparations because of good appearance, superior stability and a thin, uniform, non-greasy fi Am on the skin. Main object of this study is to elucidate the influence of polyol(clarifying agent and/or coupling agent in microemulsion) on microemulsion and to establish the optimum conditions for microemulsion gel formation in the view of superior consistency, stability, clarity and pick-up from a container. The constituents of the system are composed of water, polar ester oi1, nonionic surfactant and polyol. Using the three-component phase diagram and the tetrahedral-phase diagram, we have investigated the changes of transparence regions, consistency and resonance effect by an impact in microemulsion gel varying in polyol ratio. The results of this study showed that the variation in the content of water and couple ins agent has major influence on the microemulsion gel and the optimum formation region of microemulsion gel is the widest when the ratio of glycerine(coupling agent) to water is 63-75% It is believed that optimum use of polyol seems to be helpful to obtain the microemulsion gel containing maximum amount of oil phase with minimum amount of surfactant which is recently one of the major problems of cosmetic chemists.

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Guidelines for dental clinic infection prevention during COVID-19 pandemic (코로나 바이러스 대유행에 따른 치과 의료 관리 가이드라인)

  • Kim, Jin
    • Journal of Korean Academy of Dental Administration
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    • v.8 no.1
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    • pp.1-7
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    • 2020
  • Dental settings have unique characteristics that warrant specific infection control considerations, including (1) prioritizing the most critical dental services and provide care in a way that minimizes harm to patients due to delayed care, or harm to personnel from potential exposure to persons infected with the COVID-19 disease, and (2) proactively communicate to both personnel and patients the need for them to stay at home if sick. For health care, an interim infection prevention and control recommendation (COVID-19) is recommended for patients suspected of having coronavirus or those whose status has been confirmed. SARS-CoV-2, which is the virus that causes COVID-19, is thought to be spread primarily between people who are in close contact with one another (within 6 feet) through respiratory droplets that are produced when an infected person coughs, sneezes, or talks. Airborne transmission from person-to-person over long distances is unlikely. However, COVID-19 is a new disease, and there remain uncertainties about its mode of spreads and the severity of illness it causes. The virus has been shown to persist in aerosols for several hours, and on some surfaces for days under laboratory conditions. COVID-19 may also be spread by people who are asymptomatic. The practice of dentistry involves the use of rotary dental and surgical instruments, such as handpieces or ultrasonic scalers, and air-water syringes. These instruments create a visible spray that can contain particle droplets of water, saliva, blood, microorganisms, and other debris. While KF 94 masks protect the mucous membranes of the mouth and nose from droplet spatter, they do not provide complete protection against the inhalation of airborne infectious agents. If the patient is afebrile (temperature <100.4°F)* and otherwise without symptoms consistent with COVID-19, then dental care may be provided using appropriate engineering and administrative controls, work practices, and infection control considerations. It is necessary to provide supplies for respiratory hygiene and cough etiquette, including alcohol-based hand rub (ABHR) with 60%~95% alcohol, tissues, and no-touch receptacles for disposal, at healthcare facility entrances, waiting rooms, and patient check-ins. There is also the need to install physical barriers (e.g., glass or plastic windows) in reception areas to limit close contact between triage personnel and potentially infectious patients. Ideally, dental treatment should be provided in individual rooms whenever possible, with a spacing of at least 6 feet between the patient chairs. Further, the use of easy-to-clean floor-to-ceiling barriers will enhance the effectiveness of portable HEPA air filtration systems. Before and after all patient contact, contact with potentially infectious material, and before putting on and after removing personal protective equipment, including gloves, hand hygiene after removal is particularly important to remove any pathogens that may have been transferred to the bare hands during the removal process. ABHR with 60~95% alcohol is to be used, or hands should be washed with soap and water for at least 20 s.

A Research on Comparison of Cultural Idea of Horse Between Korea and Mongolia - In view of customs related to horse in Korea and Mongolia (한·몽 말 문화 연구 시론 -한국과 몽골의 말과 관련된 세시풍속을 중심으로-)

  • Yoon, Eun-Sook
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.24 no.4
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    • pp.347-358
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    • 2004
  • In Mongolia which consists of nomadic populations, horse has been loved by nomads and considered most important transportation means. Horses have been used when they were making long journey looking for new plain ground for grazing. Therefore, horse is closely connected with Mongolian nomadic culture. In Korea, too, horses had been considered one of most important means for transportation and military. The symbolism of horse that is represented in both Mongolia and Korea is Heavenly Horse which communicates with the God and it was sanctified as a Sacrificing Horse which was sent to God for sacrifice, and it was even worshiped as Divine Horse, the diety. As is the case of two of Mongolian customs associated with Mongolian language are 'the ceremony of horse's giving birth her young' and 'the ceremony of letting the mare go where it was before', all the cases are related with cattle's milk. The ceremony of 'horse's giving birth her young' is the ceremony where people hope that they would see the young can grow well which were born in early summer thus increasing the numbers of horse. To go with this, they perform a ceremony of Chachal in which they sprinkle the best quality white milk which is the symbol of good luck and hope they would produce plentiful of dairy products. The ceremony of 'letting the mare go where it was before' is also the ceremony where people hope to have many new born young horses thus produce more dairy products and Airag for the next year as milking is no more available for that you. Since the unified Silla Era, Koreans have performed a sacrifice rituals to horse in auspicious day. It's purpose is to see their horses get no disease and bear as many youngs as possible. The Back Ins Je, one of well blown festivals in Jeju Island, was originated from people's wish to prosper in stock farming. It can be said that the custom of Korea and Mongolia related with horse's giving birth was originated from the wishes to god for fertility and fecundity. On top of that, while Mongolians sprinkled horse's milk both on the ground and to the air hoping they would have increased houses and, thus, secure many dairy products, Koreans wish that they would see the increased number of horses and their healthy conditions through heavenly rituals.

A Study of the Traditional Korean Medicine Focusing on Yookdaesungsang(六大成象) in "Hoesamgyeong(會三經)" ("회삼경(會三經)"의 육대성상(六大成象)을 중심(中心)으로 한 한의학적(韓醫學的) 연구(硏究))

  • Oh, Iung-Ho;Ban, Chang-Yul;Park, Hwang-Jin;Lee, Sang-Nam
    • Journal of Haehwa Medicine
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    • v.23 no.1
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    • pp.57-69
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    • 2014
  • This study is based on "Hoesamgyeong(會三經)", the interpretation of the Lecture on Truth of "Samilshingo(三一神誥:Korea's national scripture)". And the goal of this study is to arrange theoretical system of Korean traditional qigong training by doing research on the principles of qigong that are contained in Yookdaesungsang(六大成象) on the basis of Traditional Korean Medicine. Yookdaesungsang(六大成象) is the ideas that appeared for the first time in "Hoesamgyeong(會三經)". Yookdaesungsang(六大成象) refers to Kong(空), Yol(熱), Jin(震), Seup(濕), Han(寒) and Ko(固), which mean six elements of nature. And they correspond with Sung(性), Myoung(命), Jung(精), Sim(心), Ki(氣) and Shin(身) respectively, which are fundamental components of human beings according to the Lecture on Truth of "Samilshingo(三一神誥)". This has a thread of connection with the ideas of 'the unity of nature and human beings(天人合一)' or 'the correspondence between nature and human beings(天人相應)' in Traditional Korean Medicine. From the standpoint of modern science, what are more tangible such as Seup(濕), Han(寒), and Ko(固) are considered as changes in states of matter by activities, while what are relatively intangible such as Kong(空), Yol(熱), and Jin(震) are regarded as wave energy. And in the ideas of three yin(三陰) and three yang(三陽), on which the meridian system of Traditional Korean Medicine is based, Taeyang(太陽)-Soeum(少陰), Yangmyung(陽明)-Taeeum(太陰), and Soyang(少陽)-Gweoleum(厥陰) are respectively ins and outs of the human body and they keep the balance between yin and yang such as cold(寒)-hot(熱), dry(燥)-wet(濕), and slow(緩)-fast(急). As these cold(寒)-hot(熱), dry(燥)-wet(濕), and slow(緩)-fast(急) correspond with Han(寒)-Yol(熱), Jin(震)-Seup(濕), and Kong(空)-Ko(固), the correlation between Yookdaesungsang(六大成象) and the meridian system can be ascertained. As mentioned above, the principles of Qigong in "Hoesamgyeong(會三經)" are based on traditional ideas and accord closely with the principles of Traditional Korean Medicine. Therefore, further researches on the correlations between principles of Qigong unique to Korean tradition and Traditional Korean Medicine are required.