• Title/Summary/Keyword: DMD

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Diagnostic testing for Duchenne/Becker Muscular dystrophy using Dual Priming Oligonucleotide (DPO) system (Dual Priming Oligonucleotide (DPO) system을 이용한 듀시엔/베커형 근이영양증 진단법)

  • Kim, Joo-Hyun;Kim, Gu-Hwan;Lee, Jin-Joo;Lee, Dae-Hoon;Kim, Jong-Kee;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.15-20
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    • 2008
  • Purpose : Large exon deletions in the DMD gene are found in about 60% of DMD/BMD patients. Multiplex PCR has been employed to detect the deletion mutation, which frequently generates noise PCR products due to the presence of multiple primers in a single reaction as well as the stringency of PCR conditions. This often leads to a false-negative or false-positive result. To address this problematic issue, we introduced the dual primer oligonucleotide (DPO) system. DPO contains two separate priming regions joined by a polydeoxyinosine linker that results in high PCR specificity even under suboptimal PCR conditions. Methods : We tested 50 healthy male controls, 50 patients with deletion mutation as deletion-positive patient controls, and 20 patients with no deletions as deletion-negative patient controls using DPO-multiplex PCR. Both the presence and extent of deletion were verified by simplex PCR spanning the promoter region (PM) and 18 exons including exons 3, 4, 6, 8, 12, 13, 17, 19, 43-48, 50-52, and 60 in all 120 controls. Results : DPO-multiplex PCR showed 100% sensitivity and specificity for the detection a deletion. However, it showed 97.1% sensitivity and 100% specificity for determining the extent of deletions. Conclusion : The DPO-multiplex PCR method is a useful molecular test to detect large deletions of DMD for the diagnosis of patients with DMD/BMD because it is easy to perform, fast, and cost-effective and has excellent sensitivity and specificity.

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Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy

  • Lee, Tae Ho;Eun, Lucy Youngmin;Choi, Jae Young;Kwon, Hye Eun;Lee, Young-Mock;Kim, Heung Dong;Kang, Seong-Woong
    • Clinical and Experimental Pediatrics
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    • v.57 no.5
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    • pp.232-239
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    • 2014
  • Purpose: Mitochondrial disease (MD) and Duchenne muscular dystrophy (DMD) are often associated with cardiomyopathy, but the myocardial variability has not been isolated to a specific characteristic. We evaluated the left ventricular (LV) mass by echocardiography to identify the general distribution and functional changes of the myocardium in patients with MD or DMD. Methods: We retrospectively evaluated the echocardiographic data of 90 children with MD and 42 with DMD. Using two-dimensional echocardiography, including time-motion (M) mode and Doppler measurements, we estimated the LV mass, ratio of early to late mitral filling velocities (E/A), ratio of early mitral filling velocity to early diastolic mitral annular velocity (E/Ea), stroke volume, and cardiac output. A "z score" was generated using the lambda-mu-sigma method to standardize the LV mass with respect to body size. Results: The LV mass-for-height z scores were significantly below normal in children with MD ($-1.02{\pm}1.52$, P<0.001) or DMD ($-0.82{\pm}1.61$, P =0.002), as were the LV mass-for-lean body-mass z scores. The body mass index (BMI)-for-age z scores were far below normal and were directly proportional to the LV mass-for-height z scores in both patients with MD (R =0.377, P<0.001) and those with DMD (R =0.330, P=0.033). The LV mass-for-height z score correlated positively with the stroke volume index (R =0.462, P<0.001) and cardiac index (R =0.358, P<0.001). Conclusion: LV myocardial atrophy is present in patients with MD and those with DMD and may be closely associated with low BMI. The insufficient LV mass for body size might indicate deterioration of systolic function in these patients.

MEMS 기술을 이용한 프로젝션 TV의 개발동향과 전망

  • 최범규
    • 전기의세계
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    • v.45 no.9
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    • pp.37-41
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    • 1996
  • MEMS 기술에 의해 개발되고 있는 많은 제품들 가운데 가장 잠재력 있고 큰 시장을 가진 대형 projector의 개발은 핵심 chip이 현재 DMD(Digital Micromirror Device), AMA(Actuated Mirror Array), 그리고 GLV(Grating Light Valve) 방식으로 진행되고 있으며 TI사가 개발 중인 DMD projector가 상품화에 근접해 있으며 고화질의 시제품을 SID(Society for Information Display) 국제 전시회에 출품하여 전세계 연구원들의 이목을 끌었으며 앞으로 어떻게 수율을 높이고 광학계의 단순화를 이루어 제작비를 낮추는 가가 관심의 초점이다. MEMS 연구를 하는 한 사람으로서의 사견으로도 이 제품이 성공하여야 범세계적으로 일어나고 있는 MEMS 기술이 더욱 확실한 신기술로서의 지위를 갖고 연구되리라 믿는다.

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Variation in Nutritive Value of Commercial Broiler Diets

  • Ru, Y.J.;Hughes, R.J.;Choct, M.;Kruk, J.A.
    • Asian-Australasian Journal of Animal Sciences
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    • v.16 no.6
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    • pp.830-836
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    • 2003
  • The classical energy balance method was used to measure the apparent metabolisable energy (AME) of four batches of broiler starter and finisher diets produced by two commercial feed companies. The results showed there was little variation in protein content between batches, but NDF content varied from 13.3% to 15.5% between batches of diet. The batch variation in chemical composition differed between feed manufacturers. While there was no difference in AME and feed conversion ration (FCR) between batches of starter diets produced by company A, FCR and AME ranged from 1.76-1.94 (p<0.001) and 11.38-11.90 MJ/kg air dry (p<0.05), respectively, for diets produced by company B. Similar results were found in a second experiment. There was no difference in AME, dry matter digestibility (DMD) and FCR between batches for finishing diet produced by company B, but a large variation occurred for the finisher diets from company A (p<0.01), where the ranges of FCR, AME and DMD were 1.95-2.30, 10.5-12.3 (MJ/kg air dry) and 58-68%, respectively. FCR was correlated with AME. AME was negatively related to the content of fibre in the diet, but positively related to DMD. The preliminary results based on 24 samples showed that near infrared spectroscopy (NIR) has the potential to predict FCR, intake, AME and DMD of commercial broiler diets, with $R^2$ being 0.93, 0.89, 0.95 and 0.98, respectively. The standard error of cross validation was below 0.2 for AME and only 0.06 for FCR.

A Study on the Nutritive Value of Distributed Roughage in Domestic Market (국내 유통 조사료의 사료가치에 관한 연구)

  • 이형석;이인덕;박덕섭;박연진;김선균;금종수
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.21 no.3
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    • pp.109-114
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    • 2001
  • The object of this experiment was to evaluate nutritive value of roughage which was collected by Woosung Feed Co., Ltd. in Korea in 1999-2000. Nineteen kinds of roughage(l32 samples) were collected by Woosung Feed Co., Ltd. and their chemical composition, ADF, NDF, Ca and P. were analysed. In addition, their DMD, DMI, WV and hay grades were calculated based on analysed values. The CP content of roughage was ranged from 17.35%(alfalfa hay) to 4.00%(Italian ryegrass hay), and ten kinds of roughage under six percentages were observed. The NDF content of roughage was ranged from 47.50%(sugarcane leaf) to 78.84%(orchardgrass hay), and eight kinds of roughage above seventy percentages were observed. The DMD of roughage was ranged from 66.38%(beet pulp) to 50.95%(orchardgrass hay). The WV of roughage was ranged from 60.1 l(orchardgrass hay) to 125.07(sugarcane leaf). In hay grade of roughage, the first grade was assigned to sugarcane leaf only and the third grade and fourth grade were assigned to four kinds of roughage each. Bermudagrass straw received the fifth grade, and the nine kinds of roughage received the poor grades. As shown in the above results, nineteen kinds of roughage were mostly low in crude protein contents and dry matter digestibility, but they were high in fibrous contents. Futhermore, while only one kind of roughage was evaluated as obtaining the first grade, nine kinds of roughage were evaluated as the poor grade. Hence, we know that roughage which was collected in Korea was mostly low in their quality and that there was significant difference in their feed value among those roughage(P<0.05). Therefore, it is necessary to mark the hay quality for purpose of distributive circulation of roughage. (Key words : Roughages, Nutritive value, DMD. RFV. Hay grade)

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A Study on the Analysis of Multi-beam Energy for High Resolution with Maskless Lithography System Using DMD (DMD를 이용한 마스크리스 리소그래피 시스템의 고해상도 구현을 위한 다중 빔 에너지 분석에 관한 연구)

  • Kim, Jong-Su;Shin, Bong-Cheol;Cho, Yong-Kyu;Cho, Myeong-Woo;Lee, Soo-Jin
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.12 no.2
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    • pp.829-834
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    • 2011
  • Exposure process is the most important technology to fabricate highly integrated circuit. Up to now, mask type lithography process has been generally used. However, it is not efficient for small quantity and/or frequently changing products. Therefore, maskless lithography technology is raised in exposure process. In this study, relations between multi-beam energy and overlay were analyzed. Exposure experiment of generating pattern was performed. It was from presented scan line by multi- beam simulation. As a result, optimal scan line distance was proposed by simulation, and micro pattern accuracy could be improved by exposure experiment using laser direct imaging system.

Enzymes and Their Reaction Mechanisms in Dimethylsulfoniopropionate Cleavage and Biosynthesis of Dimethylsulfide by Marine Bacteria

  • Do, Hackwon;Hwang, Jisub;Lee, Sung Gu;Lee, Jun Hyuck
    • Journal of Marine Life Science
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    • v.6 no.1
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    • pp.1-8
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    • 2021
  • In marine ecosystems, the biosynthesis and catabolism of dimethylsulfoniopropionate (DMSP) by marine bacteria is critical to microbial survival and the ocean food chain. Furthermore, these processes also influence sulfur recycling and climate change. Recent studies using emerging genome sequencing data and extensive bioinformatics analysis have enabled us to identify new DMSP-related genes. Currently, seven bacterial DMSP lyases (DddD, DddP, DddY, DddK, DddL, DddQ and DddW), two acrylate degrading enzymes (DddA and DddC), and four demethylases (DmdA, DmdB, DmdC, and DmdD) have been identified and characterized in diverse marine bacteria. In this review, we focus on the biochemical properties of DMSP cleavage enzymes with special attention to DddD, DddA, and DddC pathways. These three enzymes function in the production of acetyl coenzyme A (CoA) and CO2 from DMSP. DddD is a DMSP lyase that converts DMSP to 3-hydroxypropionate with the release of dimethylsulfide. 3-Hydroxypropionate is then converted to malonate semialdehyde by DddA, an alcohol dehydrogenase. Then, DddC transforms malonate semialdehyde to acetyl-CoA and CO2 gas. DddC is a putative methylmalonate semialdehyde dehydrogenase that requires nicotinamide adenine dinucleotide and CoA cofactors. Here we review recent insights into the structural characteristics of these enzymes and the molecular events of DMSP degradation.

A Study on Rumen Fermentation Characteristics and Greenhouse Gas Emission of Forages in South Korea (국내 조사료별 반추위 내 발효특성과 온실가스 발생량에 관한 연구)

  • Young Ho Joo;Ji Yoon Kim;Myeong Ji Seo;Chang Hyun Baeg;Seung Min Jeong;Sam Churl Kim
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.43 no.4
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    • pp.268-273
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    • 2023
  • The present study estimated rumen fermentation characteristics and greenhouse gas emissions of different forages. Alfalfa, timothy, tall fescue, Italian ryegrass, and rice straw as the main forage sources for Hanwoo were used in the present study. Crude protein was highest in alfalfa but lowest in rice straw (p<0.05). Ether extract was higher in alfalfa and Italian ryegrass than in the other forages (p<0.05). Crude ash was highest in rice straw but lowest in tall fescue (p<0.05). Neutral detergent fiber was highest in tall fescue but lowest in alfalfa (p<0.05). Acid detergent fiber was highest in Italian ryegrass and rice straw but lowest in alfalfa (p<0.05). In vitro digestibilities of dry matter (DMD) and neutral detergent fiber (NDFD) were highest in timothy but lowest in rice straw (p<0.05). Rumen pH was highest (p<0.05) in alfalfa, while ammonia-N was higher (p<0.05) in alfalfa and Italian ryegrass than in the other forages. Total volatile fatty acid was highest (p<0.05) in timothy, while acetate and propionate were highest (p<0.05) in alfalfa and rice straw, respectively. Acetate to propionate ratio was higher (p<0.05) in alfalfa, timothy, and Italian ryegrass than in rice straw. Rice straw had lowest total gas (mL) (p<0.05) but highest its per DMD and NDFD. Rice straw had higher (p<0.05) CO2 (per DMD and NDFD) compared to alfalfa (per DMD and NDFD), timothy (per DMD and NDFD), tall fescue (per NDFD), and Italian ryegrass (per DMD). Again, rice straw had higher (p<0.05) CH4 (per DMD and NDFD) compared to timothy (per DMD and NDFD) and tall fescue (per NDFD). Therefore, this study indicates that timothy has a higher nutrient digestibility and volatile fatty acid in the rumen leading to a reduction of greenhouse gas emission.

Design of Microstereolithography System Based on Dynamic Image Projection for Fabrication of Three-Dimensional Microstructures

  • Cboi, Jae-Won;Ha, Young-Myoung;Lee, Seok-Hee;Choi, Kyung-Hyun
    • Journal of Mechanical Science and Technology
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    • v.20 no.12
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    • pp.2094-2104
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    • 2006
  • As demands for complex microstructures with high aspect ratios have increased, the existing methods, MEMS and LIGA, have had difficulties coping with the number of masks and fabricable heights. A microstereolithography technology can meet these demands because it has no need of masks and is capable of fabricating high aspect ratio microstructures. In this technology, 3D part is fabricated by stacking layers, 2D sections, which are sliced from STL file, and the Dynamic Image Projection process enables the resin surface to be cured by a dynamic image generated with $DMD^{TM}$ (Digital Micromirror Device) and one irradiation. In this paper, we address optical design process for implementing this microstereolithography system that takes the light path based on DMD operation and image-formation on the resin surface using an optical design program into consideration. To verify the performance of this implemented microstereolithography system, complex 3D microstructures with high aspect ratios were fabricated.