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Chronic Hereditary Tyrosinemia Type I with Novel Mutation in FAH Gene (FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형)

  • Yang, Sungmin;Choi, Hyo Won;Kang, Yun Koo;Lee, Jin-Sung;Namgoong, Mee Kyung
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.2
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    • pp.55-62
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    • 2020
  • A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

Cyanobacterial Bioassay (AGP test) on the Water Fertility of Treated Wastewater Effluents Discharged into Euiam and Paldang Reservoirs, Korea (의암호 및 팔당호에 유입되는 주요 하수처리 방류수의 수질 비옥도 생물검정: Algal Growth Potential(AGP) Test)

  • Seo, Wanbum;Lee, Su-Woong;Kim, Keonhee;Park, Chaehong;Choi, Bong-Geun;Sim, Yeon Bo;Hwang, Soon-Jin;Shin, Jae-Ki
    • Korean Journal of Ecology and Environment
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    • v.50 no.1
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    • pp.79-95
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    • 2017
  • Euiam and Paldang Reservoirs have often been facing water quality problems, such as eutrophication, algal blooms and off-flavors by treated wastewater effluent (TWE) in the North-Han and the Han River basins, but little is examined on the direct biological effect of TWE. This study tested algal growth potential (AGP) of four TWEs discharged into Euiam and Paldang Reservoirs to evaluate water fertility in September 2014 and March and September 2015. Test alga was used Anabaena circinalis isolated from Paldang Reservoir. Mean concentration of T-N and T-P in TWEs was $3,956.7{\mu}g\;N\;L^{-1}$ and $50.8{\mu}g\;P\;L^{-1}$, and the proportion of $NO_3-N$ and $PO_4-P$ to the total fraction was 72.1% and 40.8%, respectively. Both N and P were high in TWEs, but much higher N than P concentration indicates strong P-limitation. As a consequence, the maximum AGP was determined by $PO_4-P$ concentration (r=0.998, p<0.01). Mean AGP value was $15.4mg\;dw\;L^{-1}$ among four effluents indicating its eutrophic condition. Due to the establishment of tertiary (advanced T-P) treatment method in the studied plants recently, P concentration was significantly decreased in TWEs compared to the years prior to 2012. However, P concentration seems to be still high enough to cause eutrophication and algal blooms. Therefore, wastewater treatment to P-free level needs to be considered if effluents are directly discharged into the drinking water resources.

Effects of Different Physical Frequency on Food-Dependent Exercise Induced Allergy Anaphylaxis (FDEIA) and Related Mechanisms (운동빈도의 차이가 식이유도 운동알레르기 질환과 관련기전에 미치는 영향)

  • Kim, Cheol-Woo;Kwak, Yi-Sub
    • Journal of Life Science
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    • v.22 no.7
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    • pp.897-903
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    • 2012
  • Food allergies have become a serious health concern in the past two decades, especially in developed countries. Foods associated with allergies include vegetables, some fruits, shellfish, wheat, egg, chicken, and nuts. To describe the specific fundamentals, etiological factors, and clinical manifestations, we analyzed the different physical frequency on spleen index in sensitized and regular exercise-trained mice. We also conducted a proliferation assay of lymphocytes to OVA, ROS, ASAS, and we determined the cytokine levels. Female BALB/c mice were bred in the animal laboratory of the P and D university under controlled conditions ($22{\pm}2^{\circ}C$, RH 45-55%, and a 12-hour photoperiod). The animals were 6 weeks old at the start of the study and were fed a standard commercial chow diet from 09:00 to 15:00 for the 8-week study period. All animals had access to distilled deionized water ad libitum. They were divided into four groups: a control group (S; control sensitized, n=25), a low-frequency training group (F2, n=25), a mid-frequency training group (F3, n=25), and a high-frequency training group (F5, n=25) following the treatment of exercise time per week. The results were as follows: The mice spleen index showed the highest grade in the F5 group compared with the other groups; this level showed in an exercise frequency-dependent manner. In the proliferation assay of OVA, the F5 group showed the highest grade compared with the other groups; this level was also showed in an exercise frequency-dependent manner. Peritoneal ROS and ASAS showed a statistically significant increase in the F5 group and decreased in the F2 group compared with the S group. However, there were no significant differences in the F3 group. The highest level of IL-4 was found in the F5 group compared with the other groups. However, the highest level of INF-${\gamma}$ was in the F2 group. The results suggest that FDEIA is positively correlated with the frequency of exercise due to the direct effect of physical exercise on peritoneal ROS and the cytokine profile. Further research is needed on the specific mechanism underlying the combined effects of exercise intensity and frequency on physical-induced allergy anaphylaxis.

Characteristics and Survival of Genus Vibrio Isolated in the Intertidal Zone of the Yellow Sea near Kunsan (군산인근해역에서 분리동정된 Vibrio 속의 특성과 해수에서의 생존)

  • 왕혜영;이건형
    • Korean Journal of Environmental Biology
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    • v.17 no.4
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    • pp.439-448
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    • 1999
  • To investigate the population dynamics and survival of Genus Vibrio, population densities of aerobic saprophytic bacteria and Vibrio groups were measured 4 times in the intertidal waters of the Yellow Sea near Kunsan from November, 1997 to June, 1998. The distribution of heterotrophic bacteria during the survey periods by plate count and direct count method ranged from 1.2$\pm$0.6$\times$10$^3$~2.0$\pm$1.5$\times$10$^4$CFU ml­$^1$and from 6.0$\pm$4.0$\times$10$^{5}$ ~1.9$\pm$1.5$\times$10$^{7}$ cells ml­$^1$, respectively. Vibrio groups were distributed in the range of 1$\times$10 and 6$\pm$2.2$\times$10$^2$CFU ml­$^1$. The proportion of Vibrio groups to total heterotrophic bacteria was between 0.1 and 6% during the survey periods. A total of 51 isolates was obtained from TCBS agar plates and identified to species level by Biolog Identification System$^{TM}$. As a result, dominant genera were V, mediterranei, V aitguillarum, tr metschnikovii, and V. parahaemolyticus, and isolates were clustered into 26 groups based on the relatedness of average linkage clustering method at 70% level. As for the susceptibility of 51 isolates to 7 kinds of antibacterial agents (gentamicin, ampicillin, chlorarnphenicol, streptomycin, kanamycin, tetracycline, carbenicillin), 96% of isolates showed high resistance to more than one antibiotics and 65% of isolates contained a plasmid, of which size was observed greater than 12 kb, The number of cells of 3 tested strains (V. anguillarum, V. vulnificus, and V. metschnikovii) in filtered aged seawater decreased by approximately 1 to 5 orders of magnitude during 30-d incubation. In most cases, the numbers of cells decreased rapidly until day 3, then decreased slowly by day 30. The number of cells incubated at 15$^{\circ}C$ showed higher survival than those at 4$^{\circ}C$ and $25^{\circ}C$. These results may be considered for the basic supporting data in the risk assessment of vibriosis in summer.r.

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Reason of Late Establishment of Barnyardgrass and Their Density Effects on Rice Yield Loss (벼 생육중기(生育中期) 피발생(發生) 원인(原因) 및 이들의 밀도(密度)에 따른 쌀수량(收量) 감소(減少))

  • Seong, K.Y.;Lee, S.B.;Ku, Y.C.;Song, D.Y.;Huh, I.P.;Kim, Y.S.
    • Korean Journal of Weed Science
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    • v.17 no.4
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    • pp.439-444
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    • 1997
  • The causes of late establishment of barnyardgrass and their density effect on rice yield loss were examined in 1996 and 1977. Herbicide application on 5 to 15DAT(Days after transplanting) increased from 6% to 52.5%, 1988 to 1992, and their ingredient amount for barnyardgrass control decreased to 41.7-87.5% in Korea. Most late establishment of barnyardgrass in machine transplanted rice field were not late germinated but revived ones. The number of late established barnyardgrass were 0.5, 2.0 and 13.3/$m^2$, on direct seeded at May 10, and machine transplanted May 23 and June 9, individually. Relation on rice yield and the number of barnyardgrass at machine transplanted field showed highly significant equation, as y=543.3 4.7x, r=0.9039 in 1996 and y=515.8 10.4x+0.066$x^2$, $R^2$=0.9532 in 1997. Theoritical yield loss by regress equation showed 2% per one plant of barnyardgrass per $m^2$ and 5, 10, 20, 50, and 80 plants of barnyardgrass decreased rice to 10, 19, 35, 69 and 79%, individually.

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Hand-Arm Vibration and Noise Levels of Double-Hammer Type and Oil-Pulse Type Impact Wrenches in Automobile Assembly Lines (자동차 조립라인에서 이중-헴머형(Double-hammer type) 임펙트 렌치와 오일-펄스형(Oil-pulse type)임펙트 렌치 에어공구의 국소진동가속도 및 소음수준)

  • Jeung, Jae-Yeal;Kim, Jung-Man
    • Journal of Korean Society of Occupational and Environmental Hygiene
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    • v.5 no.2
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    • pp.147-159
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    • 1995
  • This study was conducted to introduce fundamental data of hand-arm vibration and noise exposure levels with impact wrenches(double-hammer impact wrenches and oil-pulse impact wrenches) used in automobile assembly lines considering the process variables and tool variables. In studing, products per day, required time screwing the bolts or nuts per bolts or nut were considered as process variables, and capacity of bolts or nuts, air consumptions per minute, tool weights, RPM were considered as tool variables. Hand-arm vibration levels of 3 axis in each hand were measured using the instruments compling with ISO/DIS 5349 and noise levels were measured using a noise logging dosimeter. The results were as follows : 1. Required time to screwing the bolt or nut by oil-pulse impact wrenches is shorter than double-hammer impact wrenches but total daily exposure time of oil-pulse impact wrenches was higher than double-hammer impact wrenches because the number of bolts or nuts per cycle was many. 2. Oil-pulse impact wrenches have been used to screwing the large bolt or nut in comparing with double-hammer impact wrenches and required time to screwing the bolts or nuts were shorter than double-hammer impact wrenches because oil-pulse impact wrenches were using high RPM and large air consumption per minute. Noise level of oil-pulse impact wrenches was 8 dB(A) lower than double-hammer impact wrenches. 3. Dominant hand-arm vibration levels of double-hammer impact wrenches in each hand were $8.24m/sec^2$ of Zh axis in right hand and $9.60m/sec^2$ of Xh axis in left hand. Dominant hand-arm vibration level of oil-pulse impact wrenches in each hand was $2.59m/sec^2$ of Xh axis in right hand and $3.23m/sec^2$ of Yh axis in left hand. 4. In double-hammer impact wrenches, corresponding hand-arm vibration levels of Xh, Yh, Zh axis in left hand were higher than hand-arm vibration levels of right hand in 3 axis. In oil-pulse impact wrenches, Xh axis of right, Yh axis of left, Zh axis of left were higher than the corresponding hand-arm vibration levels of Xh, Yh, Zh axis in right and left hand. 5. Correlation coefficients among Xh, Yh. Zh axis of right and left hand hand-arm vibration levels in double-hammer impact wrenches and oil-pulse impact wrenches were commonly high in Yh axis and correlation coefficients of Yh axis in double-hammer impact wrenches and oil-pulse impact wrenches were 0.76 and 0.86,respectively. 6. As a measure repetitiveness, plotting total daily exposure time with the number of bolts or nut per cycle, direct correlation was shown between repetitiveness and hand-arn vibration exposure, and correlation coefficient between the number of bolts or nut per cycle and total daily exposure time in double-hammer impact wrenches, oil-pulse impact wrenches were 0.84 and 0.50, respectively. 7. Considering the total acceleration level and tool variables in double-hammer impact wrenches and oil-pulse impact wrenches, air consumption in right hand, and bolt or nut capacity in left hand were commonly the variable that explainability was high. Considering the noise and tool variables in double-hammer impact wrenches and oil-pulse impact wrenches, air consumption per minute was commonly the variable that explainability was high.

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Influences of Firm Characteristics and the Host Country Environment on the Degree of Foreign Market Involvement (기업특성과 호스트국가 환경이 해외시장 관여도에 미치는 영향에 관한 연구)

  • Maktoba, Omar;Nwankwo, Sonny
    • Journal of Global Scholars of Marketing Science
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    • v.19 no.2
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    • pp.5-16
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    • 2009
  • Against the backdrop of the increasing trend towards economic globalisation, many international firms are indicating that decisions on how to enter foreign markets remains one of the key strategic challenges confronting them. Despite the rich body of literature on the topic, the fact that these challenges have continued to dominate global marketing strategy discourses point to someevident lacunae. Accordingly, this paper considers the variables, categorised in terms of firm contexts (standardisation, market research, competition, structure, competitive advantage) and host country-contexts (economic development, cultural differences, regulation and political risk), which influence the degree of involvement of UK companies in overseas markets. Following hypotheses were drawn from literature review: H1: The greater the level of competition, the higher the degree of involvement in the overseas market. H2: The more centralised the firm's organisation structure, the higher the degree of involvement in the overseas market. H3a: The adoption of a low cost-approach to competitive advantage will lead to a higher degree of involvement. H3b: The adoption of an innovation-approach to competitive advantage will lead to a higher degree of involvement. H3c: The adoption of a market research approach to competitive advantages will lead to a higher degree of involvement. H3d: The adoption of a breadth of strategic target-approach to competitive advantage will lead to a lower degree of involvement. H4: The higher the degree of standardisation of the international marketing mix the higher the degree of involvement. H5: The greater the degree of economic development in the host market, the higher the degree of involvement. H6: The greater the cultural differences between home and host countries, the lower the degree of involvement. H7: The greater the difference in regulations between the home country and the host country, the lower the degree of involvement. H8: The higher the political risk in the host country, the lower the degree of involvement. A questionnaire instrument was constructed using, wherever possible, validated measures of the concepts to serve the aims of this study. Following two sets of mailings, 112 usable completed questionnaires were returned. Correlation analysis and multiple regression analysis were used to analyze data. Statistically, the paper suggests that factors relating to the level of competition, competitive advantages and economic development are strong in influencing foreign market involvements. On the other hand, unexpectedly, cultural factors (especially individualism/collectivism and low and high power distance dimensions) proved to have weak moderating effects. The reason for this, in part, is due to the pervading forces of globalisation and the attendant effect on global marketing. This paper has contributed to the general literature in a way that point to two mainimplications. First, with respect to research on national systems, the study may hold out some important lessons especially for developing nations. Most of these nations are known to be actively seeking to understand what it takes to attract foreign direct investment, expand domestic market and move their economies from the margin to the mainstream global economy. Second, it should be realised that competitive conditions remain in constant flux (even in mature industries and mature economies). This implies that a range of home country factors may be as important as host country factors in explaining firms' strategic moves and the degree of foreign market involvement. Further research can consider the impact of the home country environment on foreign market involvement decisions. Such an investigation will potentially provide further perspectives not only on the influence of national origin but also how home country effects are confounded with industry effects.

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A Study on the Fatigue Fracture Behavior in Butt Welded Joints of Steel Structures (강구조물(鋼構造物) 맞대기 용접연결부(鎔接連結部)의 피로파괴거동(疲勞破壞擧動)에 관한 연구(硏究))

  • Park, Je Seon;Chung, Yeong Wha;Kim, Jeong Tae
    • KSCE Journal of Civil and Environmental Engineering Research
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    • v.6 no.3
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    • pp.53-62
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    • 1986
  • For the research on the fatigue fracture behavior in the welded joints of steel structures, base metal specimens and welded ones were selected, and the direct fatigue tests were carried out. Thereafter, fatigue-life (S-N) curves, plastic strain-number of cycles (${\varepsilon}_p$-N) curve, the extrapolated fatigue-life (${\varepsilon}_p$-$N_c$) curve, and da/dN-${\Delta}K$ curves were plotted. By these results the followings were obtained. It was shown that the ratio of fatigue strength at $2{\times}10^6$ cycles of the welded specimen to that of the base metal one was 0.6, and that 0.72 for the base metal and 0.65 for the welded one were the ratio of fatigue strength at $2{\times}10^6$ cycles to yielding stress. The S-N curve for the welded specimen was separated into two sections, the low gradient section and the steep section. As this result, it was shown that the more stress became to reduce, the more the reduction of fatigue strength became to be great. It was shown that fatigue strength at $2{\times}10^6$ cycles from this case was about 83 % of that from the S-N curve plotted with one section. It was thought that the reason was that weld flaw acted greatly on the fatigue strength within the low stress range. It was shown that at the instart of crack initiation plastic strain increased abrupt1y in the case of the welded specimen more than the case of the base metal specimen, and increased abruptly in the upper stress range in both cases. It was shown that the experimental constant ${\alpha}$, 0.42, in the base metal nearly accorded with Manson-Coffin's result, but this made a great difference with the case in the welded specimen. It was thought that it was due to the abrupt change of plastic strain and the influence of weld flaw.

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The Clinical Features of Chronic Neonatal Hepatitis: Non-familial, Non-metabolic and Non-A, B, C Viral Hepatitis (만성 신생아 간염의 임상적 고찰: 비-가족형, 비-대사성, 비-A, B, C형 바이러스성 신생아 간염)

  • Park, Ji Ae;Lee, Chang Hun;Park, Jae Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.9 no.2
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    • pp.242-248
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    • 2006
  • Purpose: Neonatal hepatitis is the major cause of neonatal cholestasis and may be divided into infectious, metabolic, genetic, and idiopathic neonatal hepatitis. Non-familial, non-metabolic, and non-A, B, C viral neonatal hepatitis is known to have made satisfactory progress, but little is known about its chronic clinical features. Methods: Clinical and histological assessments were carried out in 34 cases with chronic neonatal hepatitis [elevated serum alanine aminotrasferase (ALT) level for more than 6 months] except for A, B, C viral hepatitis, metabolic, or genetic neonatal hepatitis, who were admitted to the Department of Pediatrics, Pusan National University Hospital, from January 1998 to January 2004. Results: Males were more common (70%). Jaundice (100%) and hepatomegaly (44%) were frequent manifestations. Peak serum ALT levels were most commonly below 300 IU/L in 41.2% of patients and peak serum direct bilirubin levels were most commonly between 1.0~5.0 mg/dL in 50% of patients. Ten cases (34%) of 29 patients had positive serum cytomegalovirus (CMV) IgM or urine CMV polymerase chain reaction. Serum ALT level was normalized within 1 year in 11 (37.9%) of 29 cases, and within 2 years in 9 (69.2%) of 13 cases. Serum ALT level was elevated persistently over 2 years in four (30.7%) of 13 cases. Histologic findings such as portal or periportal activity, lobular necrosis, portal or periportal fibrosis were more severe in patients with persistent ALT elevation over 2 years than in those showing normalization of ALT within 2 years (p>0.05). Conclusion: When the elevation of ALT level sustains over 1 year in non-familiar, non-metabolic, non-A, B, C viral neonatal hepatitis, an assessment of the severity of liver injury and a careful monitoring about chronic liver disease may be required.

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A Study on the Estimation Measure of Delay Cost on Work Zone Using the Traffic Flow Model (교통류 모형을 이용한 도로 점용공사 구간의 지체비용 산정방안)

  • Kim, Yunsik;Lee, Minjae
    • Korean Journal of Construction Engineering and Management
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    • v.17 no.5
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    • pp.120-129
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    • 2016
  • The user cost is an important analysis item which should be considered together with life-cycle of facility, administrator cost and discount rate in LCCA for efficient asset management of SOC facilities. Especially, a significant delay cost occurs often for users in the road field due to a work zone for cleaning and maintenance, and in such case, the administrator should consider the administrator cost as well as the user cost for more rational decision making. However, the user cost has not been considered in most decision making steps until recently and relevant studies also have not been carried out actively. In this study, the methodology to estimate the user cost and delay cost required in the decision making step using the traffic flow model and the direct benefit estimation model in the traffic facility investment evaluation guideline is suggested. And, the traffic flow model was estimated on 4 national highway sections where maintenance was actually carried out in 2014 using VISSIM and, the user cost and the delay cost were estimated based on the suggested methodology. The analysis result showed that the average user cost of $17,569,000KRW/km{\times}day$ occurred on Section A with approximately 30,000 AADT before a work zone occurred, and in case the first lane was blocked for maintenance, the delay cost of $10,193,000KRW/km{\times}day$ (158%) on average occurred additionally. The delay cost of $1,507,000KRW/km{\times}day$ (115%) and $1,985,000KRW/km{\times}day$ (119%) occurred on Sections B and D with approximately 20,000 AADT respectively and the delay cost of $262,000KRW/km{\times}day$ (105%) occurred on Section C with approximately 10,000 AADT. This result of this study was estimated based on the simulation of traffic flow model so that there is a limitation in its actual application. A study ot develop a highly appropriate model using actual observation data and improve the possibility to apply it through the verification using the simulation will be necessary in future.