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The Clinical and Genetic Characteristics of Three Korean Patients with Glycogen Storage Disease Type V (McArdle Disease) (세 명의 대한민국 제 V형 당원축적근육병(McArdle 병) 환자들의 유전학적 및 임상적 특성 보고)

  • Lee, Sunghee;Kang, Eungu;Kim, Yoonmyung;Lee, Beom Hee;Kim, Gu Hwan;Yoo, Han Wook
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.2
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    • pp.93-101
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    • 2016
  • Purpose: McArdle disease, glycogen storage disease type V (GSD V), is one of the most common adolescent-onset glycogen storage diseases. It is caused by recessive mutations in PYGM encoding myophosphorylase, which is critical to glycogen metabolism. Since only a few korean patients have been reported, we will observe the clinical and genetic features of three korean patients with McArdle disease. Methods: We retrospectively reviewed the medical records of three patients with genetically confirmed McArdle disease, including the results of forearm ischemic exercise test, electromyogram, nerve conduction velocity, muscle biopsy, and PYGM analysis in peripheral leukocytes. Results: All three cases were males and their age of symptom onset was 12, 5, 14 years old, respectively. A high basal level of serum creatine kinase was noted in all three patients. They experienced the recurrent episodes of rhabdomyolysis, but second wind phenomenon was not definite. In muscle biopsy, subsarcolemmal space vacuoles including periodic acid schiff stained materials were found in two patients, while no evidence of glycogen storage disease was found in the other. A total of five different mutations, $p.Arg50^*$, p.Trp798Arg, $p.Arg50^*$, p.Glu779del, $p.Asp511Thrfs^*28$ and p.Phe710del, were found in three patients. Avoidance of isometric exercise, aerobic exercise and glucose intake before each exercise were recommended for all patients. Conclusion: The three Korean patients with McArdle disease showed the typical manifestations of the condition. The most mutations were private. Therefore, identification of more cases with long-term follow-up will be required to understand the clinical and genetic features of this disease among Korean population.

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Comparative Study on the Methodology of Motor Vehicle Emission Calculation by Using Real-Time Traffic Volume in the Kangnam-Gu (자동차 대기오염물질 산정 방법론 설정에 관한 비교 연구 (강남구의 실시간 교통량 자료를 이용하여))

  • 박성규;김신도;이영인
    • Journal of Korean Society of Transportation
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    • v.19 no.4
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    • pp.35-47
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    • 2001
  • Traffic represents one of the largest sources of primary air pollutants in urban area. As a consequence. numerous abatement strategies are being pursued to decrease the ambient concentration of pollutants. A characteristic of most of the these strategies is a requirement for accurate data on both the quantity and spatial distribution of emissions to air in the form of an atmospheric emission inventory database. In the case of traffic pollution, such an inventory must be compiled using activity statistics and emission factors for vehicle types. The majority of inventories are compiled using passive data from either surveys or transportation models and by their very nature tend to be out-of-date by the time they are compiled. The study of current trends are towards integrating urban traffic control systems and assessments of the environmental effects of motor vehicles. In this study, a methodology of motor vehicle emission calculation by using real-time traffic data was studied. A methodology for estimating emissions of CO at a test area in Seoul. Traffic data, which are required on a street-by-street basis, is obtained from induction loops of traffic control system. It was calculated speed-related mass of CO emission from traffic tail pipe of data from traffic system, and parameters are considered, volume, composition, average velocity, link length. And, the result was compared with that of a method of emission calculation by VKT(Vehicle Kilometer Travelled) of vehicles of category.

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Effect of Day/Night Temperatures during Seedling Culture on the Growth and Nodes of Early Flower Cluster Set of 'Seokwang' Tomato (Lycopersicum esculentum Mill.) (육묘시의 주야간 기온이 서광 토마토의 생육 및 초기 착화 절위에 미치는 영향)

  • 김오임;정병룡
    • Journal of Bio-Environment Control
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    • v.8 no.2
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    • pp.75-82
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    • 1999
  • This study was carried out to examine the effect of day/nignt temperatures during seedling culture on the vegetative and reproductive growth of Lycopersicum esculentum ‘Seokwang’. The study was consisted of two culture stages, plug seedling production in the growth chamber and hydroponic culture of the plant in a glasshouse. Experiments were replicated over time. The germinated seedlings were raised for 33 days (experiment 1) and 35 days (experiment 2) in 4 growth chambers, each with day/night temperatures of either $25^{\circ}C$/$25^{\circ}C$, 16$^{\circ}C$/16$^{\circ}C$, 16$^{\circ}C$/$25^{\circ}C$ or $25^{\circ}C$/16$^{\circ}C$. Cool-white fluorescent lamps provided 140$\mu$mol.m$^{-2}$ .s$^{-1}$ light for 12h each day. In the second experiment, all chambers were supplied with 1000$\mu$mol.mol$^{-1}$ CO$_{2}$ during the photoperiod and had an air velocity of 0.3m.s$^{-1}$ and relative humidity of 80%. Plug seedlings raised were transplanted to rockwool slabs in a glasshouse and were grown hydroponically using the same nutrient solutions used for seedling culture for 37 days (experiment 1) and 35 days (experiment 2). Plant height was affected more by mean daily temperature than by interaction of day and night temperatures. Plant height was the highest in 16/16$^{\circ}C$ treatment. Leaf count was not affected by day and night temperatures, and the chlorophyll concentration was the highest in 16/$25^{\circ}C$ treatment. Fresh and dry weights of stem tended to be greater in treatments of constant day and night temperature. The number of node on which first and second flower clusters were set was significantly higher in 25/$25^{\circ}C$ treatment than in the other treatments. Days to flower of the first flower on the first flower cluster were the greatest in 25/$25^{\circ}C$ and the least in 16/$25^{\circ}C$ treatment. Vegetative and reproductive growth, such as height, fresh and dry weights, days to flower, and nodes of the 1st and 2nd flower cluster set were affected by day/night temperatures.

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Vibration and Noise Level on the Training Ship Pusan 403 (실습선 부산 403호의 진동과 소음)

  • Park, Jung Hee
    • Journal of the Korean Society of Fisheries and Ocean Technology
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    • v.23 no.2
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    • pp.8-8
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    • 1987
  • This paper describes on the distribution of the vibration and the noise produced on a skipjack pole and line training ship M/S Pusan 403 (243GT, 1,000ps) under the cruising or drifting condition. The vibration and the noise level were measured by use of protable vibration analyzer (B and K 3513) and sound level meter (B and K 2205), and so the vibration level was converted into dB unit. The check points were set through every decks and around important places of the ship. The results obtained can be summarized as follows: 1. The vibration and the noise level 1) On the main deck, both the vibration and the noise level were highest at the vertically above the main engine, whereas the vibration level was the lowest in the bow store and the noise level beneath the bridge. 2) Under cruising condition, the vibration level around the cylinder head of main engine, port side of the engine room, on the shaft tunnel was 80, 67, 65 dB and the noise level 104, 87, 86 dB, respectively. 3) The vibration level on the vertical line passing through the bridge was the highest at the orlop deck with 60 dB and the lowest on the bridge deck with 55 dB, whereas the noise level the highest at the compass deck with 75 dB and the lowest at the orlop deck with 53 dB. 4) The vibration and the noise level on the open decks were the highest with 65 dB and 84 dB on the boat deck, whereas the vibration level was the lowest at the lecture room with 51 dB and the noise level the lowest at the fore castle deck with 57 dB. 5) On the orlop decks, both the vibration and the noise level were the highest at the engine room with 65 dB and 85 dB, and the lowest at bow store with 54 dB and 52 dB, respectively. Comparing with the vibration level and the noise level, the vibration level was higher than the noise level in the bow part and it was contrary in the stern part of the ship. 2. Vibration analysis 1) The vibration displacement and the vibration velocity were the greatest at the cylinder head of main engine with 100μm and 11mm/sec, and were the smallest at the compass deck with 3μm and 0.07mm/sec. They were also attenuated rapidly around the frequency of 100Hz and over. 2) The vibration acceleration was the greatest at the cylinder head with the main frequency of 1KHz and the acceleration of 1.1mm/sec super(2), and the smallest at the compass deck with 30KHz and 0.05mm/sec super(2).

Vibration and Noise Level on the Training Ship Pusan 403 (실습선 부산 403호의 진동과 소음)

  • 박중희
    • Journal of the Korean Society of Fisheries and Ocean Technology
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    • v.23 no.2
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    • pp.54-60
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    • 1987
  • This paper describes on the distribution of the vibration and the noise produced on a skipjack pole and line training ship M/S Pusan 403 (243GT, 1,000ps) under the cruising or drifting condition. The vibration and the noise level were measured by use of protable vibration analyzer (B and K 3513) and sound level meter (B and K 2205), and so the vibration level was converted into dB unit. The check points were set through every decks and around important places of the ship. The results obtained can be summarized as follows: 1. The vibration and the noise level 1) On the main deck, both the vibration and the noise level were highest at the vertically above the main engine, whereas the vibration level was the lowest in the bow store and the noise level beneath the bridge. 2) Under cruising condition, the vibration level around the cylinder head of main engine, port side of the engine room, on the shaft tunnel was 80, 67, 65 dB and the noise level 104, 87, 86 dB, respectively. 3) The vibration level on the vertical line passing through the bridge was the highest at the orlop deck with 60 dB and the lowest on the bridge deck with 55 dB, whereas the noise level the highest at the compass deck with 75 dB and the lowest at the orlop deck with 53 dB. 4) The vibration and the noise level on the open decks were the highest with 65 dB and 84 dB on the boat deck, whereas the vibration level was the lowest at the lecture room with 51 dB and the noise level the lowest at the fore castle deck with 57 dB. 5) On the orlop decks, both the vibration and the noise level were the highest at the engine room with 65 dB and 85 dB, and the lowest at bow store with 54 dB and 52 dB, respectively. Comparing with the vibration level and the noise level, the vibration level was higher than the noise level in the bow part and it was contrary in the stern part of the ship. 2. Vibration analysis 1) The vibration displacement and the vibration velocity were the greatest at the cylinder head of main engine with 100$\mu$m and 11mm/sec, and were the smallest at the compass deck with 3$\mu$m and 0.07mm/sec. They were also attenuated rapidly around the frequency of 100Hz and over. 2) The vibration acceleration was the greatest at the cylinder head with the main frequency of 1KHz and the acceleration of 1.1mm/sec super(2), and the smallest at the compass deck with 30KHz and 0.05mm/sec super(2).

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Geographic Distribution of Periphyton Diatom Species: A Case Study of Achnanthes convergens in Nakdong River Basin (낙동강 수계 청수성 부착조류의 공간분포 특성에 관한 연구: Achnanthes convergens 를 사례로)

  • Jo, Myung-Hee;Byun, Myeung-Sub;Sim, Jun-Seok;Jang, Sung-Hyun
    • Journal of the Korean Association of Geographic Information Studies
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    • v.17 no.3
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    • pp.175-194
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    • 2014
  • This study attempts to identify the spatial distributions of Achnanthes convergens, and elucidate the environmental factors that affect the Periphyton diatom habitat. Data in 250 points of Nakdong river basin are collected between April(primary) and September(secondary) 2012, with the National Institute of Environmental Research's support. We define "clean area" over 10% of Achnanthes convergens appearance, and the others as "non-clean areas". Spatial statistics of Kriging, Hotspot, LISA are used in this study. Results show that 1) 56 points are identified as clean areas in the primary survey, while 41 points are discovered in the following survey; 2) using water quality variables, density of turbidity(clean $101.83{\mu}s/cm$; non-clean $598.48{\mu}s/cm$) and conductivity(clean 1.95 NTU; nonclear 5.58 NTU) are five-fold lower in clean-areas; 3) Habitat and Riparian Factors in Nakdong basin illustrate that natural sand bar, diversity of velocity, sediment condition, levee material, riverside land affect Achnanthes convergens; 4) Hotspots of Achnanthes convergens are located in watersheds, including upper Andong Dam, upper Imha dam, Wi-cheon, Miryang river, Nam river and Hwang river whereas mainstream/downstream of Nakdong river and Keumho river watershed are shown as coldspots.

Behavior and Analysis of Laterally Loaded Model Pile in Nak-dong River Fine Sand

  • Kim, Young-Su;Seo
    • Geotechnical Engineering
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    • v.14 no.3
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    • pp.25-46
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    • 1998
  • This paper shows that there are the results of a series of model tests on the behavior of single pipe pile which is subjected to lateral load in, Nak-dong River sand. The purpose of the present paper is to estimate the effect of Non-homogeneity. constraint condition of pile head, lateral load velocity, relative density, and embedded length of pile on the behavior of single pile. These effects can be quantified only by the results of model tests. Also, these are compared with the results of the numerical methods (p-y method, modified Vlasov method; new ${\gamma}$ parameter, Characteristic Load Method'CLM). In this study, a new ${\gamma}$ parameter equation based on the Vlasov method was developed to calculate the modulus of subgrade reaction (E. : nhz.) proportional to the depth. The p-y method of analysis is characterized by nonlinear behavior. and is an effective method of designing deep foundations subjected to lateral loads. The new method, which is called the characteristic load method (CLM). is simpler than p-y analysis. but its results closely approximates p-y analysis results. The method uses dimensional analysis to characterize the nonlinear behavior of laterally loaded piles with respect to be relationships among dimensionless variables. The modulus of subgrade reaction used in p-y analysis and modified Vlasov method obtained from back analysis using direct shear test (DST) results. The coefficients obtained from DST and the modified ones used for the prediction of lateral behavior of ultimate soil reaction range from 0.014 to 0.05. and from 0.2 to 0.4 respectively. It is shown that the predicted numerical results by the new method (CLM), p-y analysis, and modified Vlasov method (new parameter) agree well with measured results as the relative density increases. Also, the characteristic load method established applicability on the Q-Mnu. relationship below y/D=0.2.

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An Analysis on Characteristics of Turbulence Energy Dissipation Rate from Comparison of Wind Profiler and Rawinsonde (연직바람관측장비와 레윈존데의 비교를 통한 난류 에너지 감소률의 특성 분석)

  • Kang, Woo Kyeong;Moon, Yun Seob;Jung, Ok Jin
    • Journal of the Korean earth science society
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    • v.37 no.7
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    • pp.448-464
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    • 2016
  • The purpose of this study is to optimize the parameters related to consensus coherency within the PCL 1300, the operating program of wind profiler, from a validation of wind data between rawinsonde and wind profiler at Chupungryeong ($36^{\circ}13^{\prime}$, $127^{\circ}59^{\prime}$) site in Korea. It is then to analyze the diurnal and seasonal characteristics of the turbulence energy dissipation rate (${\varepsilon}$) in clear and rainy days from March 2009 to February 2010. In comparison of the wind data between wind profiler and rawinsonde during April 22-23, 2010, it was shown in a big error more than $10ms^{-1}$ over the height of 3,000 meters in the zonal (u) and meridional (v) wind components. When removing more than $10ms^{-1}$ in each wind speed difference of u an v components between the two instruments, the correlation coefficients of these wind components were 0.92 and 0.88, respectively, and the root mean square errors were 3.07 and $1.06ms^{-1}$. Based on these results, when the data processing time and the minimum available data within the PCL 1300 program were adjusted as 30 minutes and 60%, respectively, the bias errors were small. In addition, as a result of an analysis of sensitivity to consensus coherency of u and v components within the PCL1300 program, u components were underestimated in radial coherency, instantaneous and winbarbs coherency, whereas v components were overestimated. Finally by optimizing parameters of the PCL1300 program, the diurnal and seasonal means of ${\varepsilon}$ at each height were higher in rainy days than those in clear days because of increasing in the vertical wind speed due to upward and downward motions. The mean ${\varepsilon}$ for clear and rainy days in winter was lower than those of other seasons, due to stronger horizontal wind speed in winter than those in other seasons. Consequently, when the turbulence energy dissipation rates in the vertical wind speed of more than ${\pm}10cm\;s^{-1}$ were excluded for clear and rainy days, the mean ${\varepsilon}$ in rainy days was 6-7 times higher than that in clear days, but when considering them, it was 4-5 times higher.

Numerical Simulation of Dynamic Response of Seabed and Structure due to the Interaction among Seabed, Composite Breakwater and Irregular Waves (II) (불규칙파-해저지반-혼성방파제의 상호작용에 의한 지반과 구조물의 동적응답에 관한 수치시뮬레이션 (II))

  • Lee, Kwang-Ho;Baek, Dong-Jin;Kim, Do-Sam;Kim, Tae-Hyung;Bae, Ki-Seong
    • Journal of Korean Society of Coastal and Ocean Engineers
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    • v.26 no.3
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    • pp.174-183
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    • 2014
  • Seabed beneath and near coastal structures may undergo large excess pore water pressure composed of oscillatory and residual components in the case of long durations of high wave loading. This excess pore water pressure may reduce effective stress and, consequently, the seabed may liquefy. If liquefaction occurs in the seabed, the structure may sink, overturn, and eventually increase the failure potential. In this study, to evaluate the liquefaction potential on the seabed, numerical analysis was conducted using the expanded 2-dimensional numerical wave tank to account for an irregular wave field. In the condition of an irregular wave field, the dynamic wave pressure and water flow velocity acting on the seabed and the surface boundary of the composite breakwater structure were estimated. Simulation results were used as input data in a finite element computer program for elastoplastic seabed response. Simulations evaluated the time and spatial variations in excess pore water pressure, effective stress, and liquefaction potential in the seabed. Additionally, the deformation of the seabed and the displacement of the structure as a function of time were quantitatively evaluated. From the results of the analysis, the liquefaction potential at the seabed in front and rear of the composite breakwater was identified. Since the liquefied seabed particles have no resistance to force, scour potential could increase on the seabed. In addition, the strength decrease of the seabed due to the liquefaction can increase the structural motion and significantly influence the stability of the composite breakwater. Due to limitations of allowable paper length, the studied results were divided into two portions; (I) focusing on the dynamic response of structure, acceleration, deformation of seabed, and (II) focusing on the time variation in excess pore water pressure, liquefaction, effective stress path in the seabed. This paper corresponds to (II).

Numerical Simulation of Dynamic Response of Seabed and Structure due to the Interaction among Seabed, Composite Breakwater and Irregular Waves (I) (불규칙파-해저지반-혼성방파제의 상호작용에 의한 지반과 구조물의 동적응답에 관한 수치시뮬레이션 (I))

  • Lee, Kwang-Ho;Baek, Dong-Jin;Kim, Do-Sam;Kim, Tae-Hyung;Bae, Ki-Seong
    • Journal of Korean Society of Coastal and Ocean Engineers
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    • v.26 no.3
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    • pp.160-173
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    • 2014
  • Seabed beneath and near coastal structures may undergo large excess pore water pressure composed of oscillatory and residual components in the case of long durations of high wave loading. This excess pore water pressure may reduce effective stress and, consequently, the seabed may liquefy. If liquefaction occurs in the seabed, the structure may sink, overturn, and eventually increase the failure potential. In this study, to evaluate the liquefaction potential on the seabed, numerical analysis was conducted using the expanded 2-dimensional numerical wave tank to account for an irregular wave field. In the condition of an irregular wave field, the dynamic wave pressure and water flow velocity acting on the seabed and the surface boundary of the composite breakwater structure were estimated. Simulation results were used as input data in a finite element computer program for elastoplastic seabed response. Simulations evaluated the time and spatial variations in excess pore water pressure, effective stress, and liquefaction potential in the seabed. Additionally, the deformation of the seabed and the displacement of the structure as a function of time were quantitatively evaluated. From the results of the analysis, the liquefaction potential at the seabed in front and rear of the composite breakwater was identified. Since the liquefied seabed particles have no resistance to force, scour potential could increase on the seabed. In addition, the strength decrease of the seabed due to the liquefaction can increase the structural motion and significantly influence the stability of the composite breakwater. Due to limitations of allowable paper length, the studied results were divided into two portions; (I) focusing on the dynamic response of structure, acceleration, deformation of seabed, and (II) focusing on the time variation in excess pore water pressure, liquefaction, effective stress path in the seabed. This paper corresponds to (I).