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Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis (DNA 분석을 이용한 ATP7A 유전자의 새로운 돌연변이 발견과 멘케스병의 산전 진단)

  • Choi, Jin-Ho;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.38-44
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    • 2007
  • Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

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Role of Whole Body FDG-PET in the Diagnosis of Hidden Distant Metastasis before Liver Transplantation in Patients with Primary Liver Cancer (고식적 검사로 간외 전이를 진단하지 못한 원발성 간암 환자에서 간이식 전에 시행한 전신 FDG-PET의 역할)

  • Lee, Won-Woo;Ryu, Jin-Sook;Yang, You-Jung;Kim, Jae-Seung;Yeo, Jeong-Seok;Moon, Dae-Hyuk;Lee, Sung-Gyu
    • The Korean Journal of Nuclear Medicine
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    • v.36 no.6
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    • pp.368-380
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    • 2002
  • Purpose: Liver transplantation (LT), one of the therapeutic options of primary liver cancer has been suffering from recurrence caused by metastasis in 8-54% of patients. This study was performed to investigate whether FDG-PET is useful for detecting hidden metastasis in LT candidates. Materials and Methods: Twenty-six patients (male:female=23:3, mean age 55.7 years) underwent FDG-PET. Their previous conventional diagnostic studies (CDS) like abdomen US and CT, chest x-ray and CT, and bone scan were negative (n=22) or equivocal (n=4) for metastasis. Positive FDG-PET findings were confirmed by biopsy or clinical follow-up. Results: Among 4 patients with equivocal metastatic lesions on CDS, 3 had 6 hypermetabolic lesions on FDG-PET, which were confirmed as metastasis and subsequently LTs were cancelled. Of these, 5 lesions were initially negative on CDS. Remained 1 patient underwent LT with a negative FDG-PET result. Among 22 patients without metastasis on CDS, 5 had 7 hypermetabolic lesions on FDG-PET. One of these patients proved to have 2 metastatic lesions, and LT was cancelled. The other 4 patients had S hypermetabolic lesions on FDG-PET, which were confirmed as benign lesions, and 3 patients of them underwent LT. In summary, FDG-PET was useful in avoiding 4 unwarranted LT by detecting unsuspected metastatic lesions on CDS. A total of 17 patients underwent LT. In comparison with pathology, the sensitivity and specificity of FDG-PET for detecting viable primary liver cancer were 55.6% (5/9) and 87.5% (7/8), respectively. Conclusion: FDG-PET can detect additional hidden metastasis and contribute to reducing unwarranted LT in the patients with primary liver cancer.

Cognition and Satisfaction of Customer in Home-delivered Meal (가정배달급식에 대한 고객의 인식 및 만족도 조사)

  • 김혜영;류시현
    • Korean journal of food and cookery science
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    • v.19 no.4
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    • pp.529-538
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    • 2003
  • The objectives of this study were to measure customers' cognition and overall satisfaction, and to identify relatively important attributes for the overall satisfaction, of home-delivered meals. Questionnaires were distributed to 243 customers. The statistical data analyses were completed by x$^2$-tests, ANOV A, factor analysis, reliability analysis and regression analysis using SPSS version 10. 56.6% of customers get obtained information from the internet, with 31.3% of these using this method at least once a week, but 72.9% of customers used this method less than once per years. The major reasons for ordering home-delivered meals were tired of cooking, more economical and no time to cook. The results were significantly different in relation to age, occupation and monthly income. The major reasons for hesitation about ordering home-delivered meals were meals should be prepared in households, not sanitary and the use of too many artificial flavors. The results for this factor were significantly different in relation to gender, age and monthly income(p<0.01). The most preferred kinds of home-delivery meals were Korean soup (guk), stew, soup (tang), speciality dishes and party dishes. The customer's cognition of kindness of the delivery staff was highest, with food temperature being the lowest among the options. The food and service level factors were derived from a factor based analysis of customer's cognition towards home-delivered meals. The customer's cognition of food taste, food quantity, kindness of delivery staff and packaging container shape were significantly different according to the use frequency and use period. The packaging method, sanitation, kindness of delivery staff, price and taste were the most relatively important attributes for overall satisfaction with home-delivered meals.

The effect of recapitalization on capital structure decision and corporate value in Korean Firms (한국기업의 자본재조정이 자본구조 의사결정과 기업가치에 미치는 영향분석)

  • Kim, Jooyul;Kim, Dongwook;Kim, Byounggon
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.18 no.4
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    • pp.163-174
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    • 2017
  • This study analyzed how Korean firms' recapitalization affects their capital structure decision and firm value. Recapitalization was categorized into three groups according to the influence of the debt to equity ratio: debt ratio-increasing-recapitalization(capital reduction with refund, cash dividend), debt ratio-unchanging-recapitalization (capital reduction without refund, retirement of repurchased stocks), and debt ratio-decreasing-recapitalization(exercise the rights for convertible bonds, bond with stock warrants, exchangeable bonds and stock options). This article highlights how the relationship between the firms' recapitalization and the capital structure decision driven by the change in debt to equity ratio through the recapitalization should affect the firm value. The whole recapitalization sample used for this analysis comprised 22,814 enterprises listed on the Korea Exchange that were analyzed over the 16-year period from 2000 to 2015. To summarize the results of this Panel Data Analysis, firstly, when a firm executes debt ratio-increasing-recapitalization and debt ratio-decreasing-recapitalization at the period of t-1, the debt to equity ratio, which is increased or decreased, should affect the firm's debt capacity in the same period, then, at the period of t, the firm establishes a leverage policy to readjust the debt to equity ratio the other way around. These adjustments of debt-paying-ability from the leverage policy, including the capital structure decision, finally affect the firm value. Secondly, when a firm implements the debt ratio-unchanging-recapitalization in the period of t-1, the debt to equity ratio, which is neutral, should not affect the firm's capital structure decision. But, the firm value is positively affected by the influence of that recapitalization. Conclusively, we acknowledge a firm which carries out the recapitalization balances its capital structure to the optimal level of leverage and that the capital structure decision positively affects the corporate value.

How effective has the Wairau River erodible embankment been in removing sediment from the Lower Wairau River?

  • Kyle, Christensen
    • Proceedings of the Korea Water Resources Association Conference
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    • 2015.05a
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    • pp.237-237
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    • 2015
  • The district of Marlborough has had more than its share of river management projects over the past 150 years, each one uniquely affecting the geomorphology and flood hazard of the Wairau Plains. A major early project was to block the Opawa distributary channel at Conders Bend. The Opawa distributary channel took a third and more of Wairau River floodwaters and was a major increasing threat to Blenheim. The blocking of the Opawa required the Wairau and Lower Wairau rivers to carry greater flood flows more often. Consequently the Lower Wairau River was breaking out of its stopbanks approximately every seven years. The idea of diverting flood waters at Tuamarina by providing a direct diversion to the sea through the beach ridges was conceptualised back around the 1920s however, limits on resources and machinery meant the mission of excavating this diversion didn't become feasible until the 1960s. In 1964 a 10 m wide pilot channel was cut from the sea to Tuamarina with an initial capacity of $700m^3/s$. It was expected that floods would eventually scour this 'Wairau Diversion' to its design channel width of 150 m. This did take many more years than initially thought but after approximately 50 years with a little mechanical assistance the Wairau Diversion reached an adequate capacity. Using the power of the river to erode the channel out to its design width and depth was a brilliant idea that saved many thousands of dollars in construction costs and it is somewhat ironic that it is that very same concept that is now being used to deal with the aggradation problem that the Wairau Diversion has caused. The introduction of the Wairau Diversion did provide some flood relief to the lower reaches of the river but unfortunately as the Diversion channel was eroding and enlarging the Lower Wairau River was aggrading and reducing in capacity due to its inability to pass its sediment load with reduced flood flows. It is estimated that approximately $2,000,000m^3$ of sediment was deposited on the bed of the Lower Wairau River in the time between the Diversion's introduction in 1964 and 2010, raising the Lower Wairau's bed upwards of 1.5m in some locations. A numerical morphological model (MIKE-11 ST) was used to assess a number of options which led to the decision and resource consent to construct an erodible (fuse plug) bank at the head of the Wairau Diversion to divert more frequent scouring-flows ($+400m^3/s$)down the Lower Wairau River. Full control gates were ruled out on the grounds of expense. The initial construction of the erodible bank followed in late 2009 with the bank's level at the fuse location set to overtop and begin washing out at a combined Wairau flow of $1,400m^3/s$ which avoids berm flooding in the Lower Wairau. In the three years since the erodible bank was first constructed the Wairau River has sustained 14 events with recorded flows at Tuamarina above $1,000m^3/s$ and three of events in excess of $2,500m^3/s$. These freshes and floods have resulted in washout and rebuild of the erodible bank eight times with a combined rebuild expenditure of $80,000. Marlborough District Council's Rivers & Drainage Department maintains a regular monitoring program for the bed of the Lower Wairau River, which consists of recurrently surveying a series of standard cross sections and estimating the mean bed level (MBL) at each section as well as an overall MBL change over time. A survey was carried out just prior to the installation of the erodible bank and another survey was carried out earlier this year. The results from this latest survey show for the first time since construction of the Wairau Diversion the Lower Wairau River is enlarging. It is estimated that the entire bed of the Lower Wairau has eroded down by an overall average of 60 mm since the introduction of the erodible bank which equates to a total volume of $260,000m^3$. At a cost of $$0.30/m^3$ this represents excellent value compared to mechanical dredging which would likely be in excess of $$10/m^3$. This confirms that the idea of using the river to enlarge the channel is again working for the Wairau River system and that in time nature's "excavator" will provide a channel capacity that will continue to meet design requirements.

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Comparative Study of Security Services Industry Act and Police Assigned to Special Guard Act - Focused on special guards and police assigned to special guard duty - (경비업법과 청원경찰법의 비교 연구 특수경비원과 청원경찰을 중심으로)

  • Noh, Jin-keo;Lee, Young-ho;Choi, Kyung-cheol
    • Korean Security Journal
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    • no.57
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    • pp.177-203
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    • 2018
  • Police Assigned to Special Guard Act was legislated in 1962 to solve issues regarding the protection of various staple industrial installations, and in 2001, the Security Services Industry Act was revised to establish an effective security system for important national facilities. Thereby the Special Guards System was instituted. The current law has two parts, with the Police Assigned to Special Guard System and Special Guards System, and many scholars have actively discussed the appropriateness of the integration of both systems to solve problems caused by a bimodal system. However, in spite of these discussions taking place in the academic world, the idea of unification lost its power when the guarantee of status regulation was established for the police assigned to special guard. Strictly speaking, police assigned to special guard is a self-guard, and a special guard is a contractual guard. So, both of them have pros and cons. Thus, it would be desirable to give a legal, constitutional guarantee for both systems by strengthening each of them and making up for the weakness of each of them rather than trying to unify police assigned to special guard and special guard. To begin this process, we need to revise unreasonable legal provisions of Security Services Industry Act and Police Assigned to Special Guard Act as below. First, since the actual responsibilities of special guards and police assigned to special guard duty are the same, we need to make the facilities which they use equal. Second, legal provisions need to be revised so that a special guard may perform the duties of a police officer, according to the Act on the Performance of Duties by Police Officers, within the facility that needs to be secured in order to prevent any vacancy in the guarding of an important national facility. Third, disqualifications for the special guards need to be revised to be the same as the disqualifications for the police assigned to special guard duty. Fourth, it is reasonable to unify the training institution for special guards and for police assigned to special guard duty, and it should be the training institution for police. On-the-job education for a security guard needs to be altered to more than 4 hours every month just like the one for police assigned to special guard duty. Fifth, for a special guard, it is not right to limit the conditions in their using weapons to 'use of weapon or explosives' only. If one possesses 'dangerous objects such as weapon, deadly weapon, and so on' and resists, a special guard should be able to use their weapon against that person. Thus, this legal provision should be revised. Sixth, penalty, range of fines, and so on for police assigned to special guard duty need to be revised to be the same as the ones for a special guard. If we revise these legal provisions, we can correct the unreasonable parts of Security Services Industry Act and Police Assigned to Special Guard Act without unifying them. Through these revisions, special guards and police assigned to special guard duty may develop the civilian guard industry wholesomely under the law, and the civilians would have a wider range of options to choose from to receive high quality security service.

Study on Tragic Characteristic in Lope's Drama La estrella de Sevilla (로뻬의 연극 『세비야의 별』에 나타난 비극성 연구)

  • YOON, Yong-wook
    • Cross-Cultural Studies
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    • v.50
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    • pp.371-394
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    • 2018
  • La estrella de Sevilla, is a representative masterpiece of the Golden Age of Spain, and is a tragic work of Lope de Vega, who was a representative drama writer living in the 17th century. However, regardless of its great literary value, there are insufficient researches on this drama even in Spain, due to several controversies surrounding the truth about Lope's creation. Here, this research concretely investigated the tragic characteristic of this drama, by largely dividing it into the viewpoint of Aristotle and Shakespeare. Thanks to the noble social status of the characters and proper dialogue of the hero Sancho Ortiz in trouble, there seems to be no problem in performing the cathartic function that Aristotle mentioned regarding the work in his review. However, there are a few problems in the aspect of the 'hero's free will to resist the absolute fate,' which is fundamentally the essence of the associated Aristotelian tragedy. Because, there's no Hamartia in this drama, the core mechanism that forms the absolute fate, makes the statement that accordingly, no absolute fate or irresistible force of destiny is established. Rather, the tragic characteristic of this drama can be more properly investigated from the viewpoint of Shakespeare. As noted differently from Aristotle, Shakespeare considered that the tragic characteristic came from the hero's characteristic. According to him, tragedy starts from the hero's value view and personality, instead of the external factors such as an absolute fate. Actually, Busto's death and separation between Sancho Ortiz and Estrella, two tragic affairs of La estrella de Sevilla, were caused by the crooked selfishness of King Sancho IV, who abused his authority, and Sancho Ortiz' excessively blind loyalty to the King, rather than the irresistible event. In conclusion, in light of a lethargic and hopeless situation, with no eventual choice of options before the injustice of absolute power, is must have been a significant tragedy for the audience, witnessing the play's tragic ending.

A Study on Differentiation and Improvement in Arbitration Systems in Construction Disputes (건설분쟁 중재제도의 차별화 및 개선방안에 관한 연구)

  • Lee, Sun-Jae
    • Journal of Arbitration Studies
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    • v.29 no.2
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    • pp.239-282
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    • 2019
  • The importance of ADR(Alternative Dispute Resolution), which has the advantage of expertise, speed and neutrality due to the increase of arbitration cases due to domestic and foreign construction disputes, has emerged. Therefore, in order for the nation's arbitration system and the arbitration Organization to jump into the ranks of advanced international mediators, it is necessary to research the characteristics and advantages of these arbitration Organization through a study of prior domestic and foreign research and operation of international arbitration Organization. As a problem, First, education for the efficient promotion of arbitrators (compulsory education, maintenance education, specialized education, seminars, etc.). second, The effectiveness of arbitration in resolving construction disputes (hearing methods, composition of the tribunal, and speed). third, The issue of flexibility and diversity of arbitration solutions (the real problem of methodologies such as mediation and arbitration) needs to be drawn on the Arbitration laws and practical problems, such as laws, rules and guidelines. Therefore, Identify the problems presented in the preceding literature and diagnosis of the defects and problems of the KCAB by drawing features and benefits from the arbitration system operated by the international arbitration Institution. As an improvement, the results of an empirical analysis are derived for "arbitrator" simultaneously through a recognition survey. As a method of improvement, First, as an optimal combination of arbitration hearing and judgment in the settlement of construction disputes,(to improve speed). (1) A plan to improve the composition of the audit department according to the complexity, specificity, and magnification of the arbitration cases - (1)Methods to cope with the increased role of the non-lawyer(Specialist, technical expert). (2)Securing technical mediators for each specialized expert according to the large and special corporation arbitration cases. (2) Improving the method of writing by area of the arbitration guidelines, second, Introduction of the intensive hearing system for psychological efficiency and the institutional improvement plan (1) Problems of optimizing the arbitration decision hearing procedure and resolution of arbitration, and (2) Problems of the management of technical arbitrators of arbitration tribunals. (1)A plan to expand hearing work of technical arbitrator(Review on the introduction of the Assistant System as a member of the arbitration tribunals). (2)Improved use of alternative appraisers by tribunals(cost analysis and utilization of the specialized institution for calculating construction costs), Direct management of technical arbitrators : A Study on the Improvement of the Assessment Reliability of the Appraisal and the Appraisal Period. third, Improvement of expert committee system and new method, (1) Creating a non-executive technical committee : Special technology affairs, etc.(Major, supports pre-qualification of special events and coordinating work between parties). (2) Expanding the standing committee.(Added expert technicians : important, special, large affairs / pre-consultations, pre-coordination and mediation-arbitration). This has been shown to be an improvement. In addition, institutional differentiation to enhance the flexibility and diversity of arbitration. In addition, as an institutional differentiation to enhance the flexibility and diversity of arbitration, First, The options for "Med-Arb", "Arb-Med" and "Arb-Med-Arb" are selected. second, By revising the Agreement Act [Article 28, 2 (Agreement on Dispute Resolution)], which is to be amended by the National Parties, the revision of the arbitration settlement clause under the Act, to expand the method to resolve arbitration. third, 2017.6.28. Measures to strengthen the status role and activities of expert technical arbitrators under enforcement, such as the Act on Promotion of Interestments Industry and the Information of Enforcement Decree. Fourth, a measure to increase the role of expert technical Arbitrators by enacting laws on the promotion of the arbitration industry is needed. Especially, the establishment of the Act on Promotion of Intermediation Industry should be established as an international arbitration agency for the arbitration system. Therefore, it proposes a study of improvement and differentiation measures in the details and a policy, legal and institutional improvement and legislation.

The Effect of the Surfactant on the Migration and Distribution of Immiscible Fluids in Pore Network (계면활성제가 공극 구조 내 비혼성 유체의 거동과 분포에 미치는 영향)

  • Park, Gyuryeong;Kim, Seon-Ok;Wang, Sookyun
    • Economic and Environmental Geology
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    • v.54 no.1
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    • pp.105-115
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    • 2021
  • The geological CO2 sequestration in underground geological formation such as deep saline aquifers and depleted hydrocarbon reservoirs is one of the most promising options for reducing the atmospheric CO2 emissions. The process in geological CO2 sequestration involves injection of supercritical CO2 (scCO2) into porous media saturated with pore water and initiates CO2 flooding with immiscible displacement. The CO2 migration and distribution, and, consequently, the displacement efficiency is governed by the interaction of fluids. Especially, the viscous force and capillary force are controlled by geological formation conditions and injection conditions. This study aimed to estimate the effects of surfactant on interfacial tension between the immiscible fluids, scCO2 and porewater, under high pressure and high temperature conditions by using a pair of proxy fluids under standard conditions through pendant drop method. It also aimed to observe migration and distribution patterns of the immiscible fluids and estimate the effects of surfactant concentrations on the displacement efficiency of scCO2. Micromodel experiments were conducted by applying n-hexane and deionized water as proxy fluids for scCO2 and porewater. In order to quantitatively analyze the immiscible displacement phenomena by n-hexane injection in pore network, the images of migration and distribution pattern of the two fluids are acquired through a imaging system. The experimental results revealed that the addition of surfactants sharply reduces the interfacial tension between hexane and deionized water at low concentrations and approaches a constant value as the concentration increases. Also it was found that, by directly affecting the flow path of the flooding fluid at the pore scale in the porous medium, the surfactant showed the identical effect on the displacement efficiency of n-hexane at equilibrium state. The experimental observation results could provide important fundamental information on immiscible displacement of fluids in porous media and suggest the potential to improve the displacement efficiency of scCO2 by using surfactants.

Application of CBM-CFS3 Model to Assess Carbon Stock and Age Class Changes Over Long Term Forest Planning in a Korea's National Forest (산림탄소축적을 고려한 국유림 장기경영계획 수립을 위한 CBM-CFS3 모델의 적용)

  • Jang, Kwangmin;Won, Hyun-Kyu;Kim, Young-Hwan;Tak, Kwang-IL;Shin, Man Yong;Lee, Kyeonghak
    • Journal of Korean Society of Forest Science
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    • v.100 no.4
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    • pp.591-597
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    • 2011
  • Forest carbon stock changes in a national forest were assessed by CBM-CFS3 model with different management scenarios to support decision making for a long term forest planning. Management scenarios were composed with 4 different levels of timber harvesting - current harvesting level (scenario1), 30% increment in each period (scenario2), 3 times increment (scenario3), and 5 times increment (scenario4). For each scenarios, changes in total carbon stocks, carbon stocks of each carbon pools, carbon stocks of harvested wood products (HWP) and age class structure were estimated over 100-year planning horizon. The estimated total carbon stock including HWP at the end of final period (100 years) was 433.1 tC/ha under scenario 1, but the age class structure has skewed right to the upper classes, which is not desirable for sustainable forest management. Under the scenario 4, however, the total carbon stock decrease to 385.5 tC/ha and the area of old growth forest show a significant decline. The estimated total carbon stock under scenario 2 and 3 were 411.7 tC/ha and 410.5 tC/ha respectively, and it was able to maintain the initial level of the forest carbon stocks during the planning horizon. Also the age class structures under the scenario 2 and 3 were evenly distributed from class 1 to class 8. Overall, scenario 2 and 3 were the most acceptable forest management options, in terms of carbon stock changes and age class structure.