• Title/Summary/Keyword: DMD

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Direct Deletion Analysis in Two Duchenne Muscular Dystrophy Symptomatic Females Using Polymorphic Dinucleotide (CA)n Loci within the Dystrophin Gene

  • Giliberto, Florencia;Ferreiro, Veronica;Dalamon, Viviana;Surace, Ezequiel;Cotignola, Javier;Esperante, Sebastian;Borelina, Daniel;Baranzini, Sergio;Szijan, Irene
    • BMB Reports
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    • v.36 no.2
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    • pp.179-184
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    • 2003
  • Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease. It is inherited manifestations. In some rare cases, the disease can also be manifested in females. The aim of the present study was to determine the molecular alteration in two cases of nonrelated DMD symptomatic carriers with no previous history of DMD. Multiplex PCR is commonly used to search for deletion in the DMD gene of affected males. This method could not be used in females because the normal X chromosome masks the deletion of the mutated one. Therefor, we used a set of seven highly polymorphic dinucleotide $(CA)_n$ repeat markers that lie within the human dystrophin gene. The deletions were evidenced by hemizygosity of the loci under study. We localized a deletion in the locus 7A (intron 7) on the maternal X chromosome in one case, and a deletion in the region of introns 49 and 50 on the paternal X chromosome in the other. The use of microsatellite genotyping within the DMD gene enables the detection of the mutant allele in female carriers. It is also a useful method to provide DMD families with more accurate genetic counseling.

Evaluation of Combustion Instability in a Model Gas Turbine Adopting Flame Transfer Function and Dynamic Mode Decomposition (화염 전달함수 및 DMD 기법을 이용한 모형 가스터빈의 연소불안정성 평가)

  • Son, Jinwoo;Sohn, Chae Hoon;Yoon, Jisu;Yoon, Youngbin
    • Journal of the Korean Society of Combustion
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    • v.22 no.2
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    • pp.1-8
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    • 2017
  • To evaluate the combustion instability of a gas turbine combustor, the DMD technique was applied. The mode frequency results for each fuel composition were compared with FFT(Fast Fourier Transform) results. The damping coefficient, which is a quantitative parameter for combustion instability, was evaluated for 5 experimental cases. The flame transfer function (FTF) was calculated in the most unstable test case. In deriving the FTF, gain and phase were calculated using DMD technique. As a result of the analysis of the OH radical perturbation of the DMD, the heat release fluctuation was the highest at 100 Hz, at which the highest value of gain is observed. The frequency of FFT and FTF were different. In order to clarify the reason for this, FTF for various resonance frequencies was performed and it shows that the pattern of gain was similar to FFT.

Fabrication of 3-Dimensional Microstructures using Digital Micromirror Device (Digital Micromirror Device 를 이용한 3차원 마이크로구조물 제작)

  • Choi, Jae-Won;Ha, Young-Myoung;Choi, Kyung-Hyun;Lee, Seok-Hee
    • Journal of the Korean Society for Precision Engineering
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    • v.23 no.11 s.188
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    • pp.116-125
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    • 2006
  • MEMS and LIGA technologies have been used for fabricating microstructures, but their shape is not 3D because of difficulty for preparation of many masks. To fabricate 3D microstructures, microstereolithography technology based on Digital Micromirror Device($DMD^{TM}$) was introduced. It has no need of masks and is capable of fabricating high aspect ratio microstructures. In this technology, STL file is the standard format as the same of conventional rapid prototyping system, and 3D parts are fabricated by layer-by-layer according to 2D section sliced from STL file. The UV light source is illuminated to DMD which makes bitmap images of 2D section, and they are transferred and focused on resin surface. In this paper, we addressed optical design of microstereolithography system in consideration of light path according to DMD operation and image-forming on the resin surface using optical design program. To verify the performance of implemented microstereolithography system, 3D microstructures with complexity and high aspect ratio were fabricated.

Magnetic Resonance Imaging as a Biomarker for Duchenne Muscular Dystrophy

  • Lim, Woo-taek
    • Physical Therapy Korea
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    • v.22 no.3
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    • pp.98-105
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    • 2015
  • Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like $T_2$-weighted imaging, assess muscle damage, including inflammation, by detecting changes in $T_2$ relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.

Head Fixed Type Multi-Focus Display System Using Galvano-Scanner and DMD(Digital Micro-Mirror Device) (갈바노 스캐너와 DMD(Digital Micro-mirror Device)를 이용한 두부 고정형 다초점 디스플레이 시스템)

  • Kim, Dong-Wook;Kwon, Yong-Moo;Kim, Sung-Kyu
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.34 no.10B
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    • pp.1117-1123
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    • 2009
  • Head fixed type multi-focus display system using Galvano-scanner and DMD(Digital Micro-mirror Device), which is able to perfectly accommodate, can solve eye fatigue due to conflict between convergence eye movement and accommodation action in stereoscopic display. This system is able to accommodate through making convergence point about each view point and offering it in front of observer's pupil by using laser scanning method. In this paper, we analyzed laser scanning method of this multi-focus display system. And multi-focus display system based on this analysis was made, which showed that focus adjustment was possible through video camera. As a result, formation principle of view point of multi-focus system by laser scanning method was verified.

Application of DMD for Phase Shifting in Moire Topology (DMD를 이용한 위상천이 모아레 3차원 형상 측정)

  • Jeong, Kyung-Seok;Jung, Yong-Sang
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.12 no.6
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    • pp.2457-2462
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    • 2011
  • The need for rapid and accurate measurement of 3-dimensional objects is increasing due to the paradigmatic shift in manufacturing from mass production to small batch production. A three dimensional measurement technique which can provide the dimensional information of the object manufactured or to be manufactured has been developed. This method is based on phase shifting moire topology. Digital-Micromirror-Device (DMD) has been used in generating phase shifting moire fringes. And the mechanically moving optical components used for phase shifting, which might result in measurement errors, have been replaced by the DMD. Inherent $2\pi$-ambiguity problem, occurring in the calculation of phase from the light intensity distribution due to the nature of arctangent function, has been overcome by adapting the phase unwrapping method. The advantage of this technique is the easy change of the range and the resolution of the measurement by simply changing the computer generated grid pattern with the appropriate combination of projection lens of various focal length.

Studies on Quality of Silage from Domestic Herbages IV. Effects of starch addition on the quality of leaf and stem silage of kudzu (야초 사일리지의 품질향상에 관한 연구 III. 칡 사일리지에 있어서 잎과 줄기의 전분첨가효과)

  • 김종쾌;이상훈;김영규;김대진
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.11 no.1
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    • pp.60-67
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    • 1991
  • This experiment was conducted to investigate the effects of starch addition on the fermentative quality and dry matter digestibility(DMD) of Kudzu(Puerari~ thzmbergii Bentham) silage. The herbages was ensiled by the conventional methods in small plastic silo of 7.5 liters with addition of starch of 0 %, 2 %, 4 74, 6 % and 8 %, respectivery. The samples of kudzu silage were separated into leaf and stem, and was determined the pH, organic acid and characteristics of fiber such as neutral detergent fiber(NDF), acid detergent liber(ADF) and acid detergent lignin(ADL). The DMD of leaf and stem silage were evaluated by pepsin-cellulase technique method. The energy values(tota1 digestible nutrients, TDN; digestible energy, DE; metaboliz;~bie energy. ME) were calculated by DMD. The results obtained were as follows: 1. The fiberous meterials(such as NDF, AIIF and ADL) of leaf and stem were decreased with increasing levels of starch(p

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A Case Report : The Measurement Results of Duchenne Muscular Dystrophy Patient Using Sensitiv ImagoTM and Ryodoraku (Sensitiv ImagoTM, 양도락을 이용한 Duchenne Muscular Dystrophy 환아 1례의 검사 결과 보고)

  • Han, Ju Hui;Kim, Deog Gon;Lee, Jin Yong
    • The Journal of Pediatrics of Korean Medicine
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    • v.28 no.3
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    • pp.74-84
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    • 2014
  • Objectives The purpose of this study is to report the measurement results of Duchenne Muscular Dystrophy (DMD) in Patient Using Sensitiv $Imago^{TM}$ (SI) and Ryodoraku. Methods We conducted SI test and Ryodoraku test to a 7-year-old DMD patient who visited to Oriental pediatrics, Kyung Hee Medical Center. Results We obtained SI and Ryodoraku test results from a DMD patient. Conclusions Further study with more samples is necessary to establish accuracy of SI in clinical use.

In Situ Fluorescence Optical Detection Using a Digital Micromirror Device (DMD) for 3D Cell-based Assays

  • Choi, Jong-Ryul;Kim, Kyujung;Kim, Donghyun
    • Journal of the Optical Society of Korea
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    • v.16 no.1
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    • pp.42-46
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    • 2012
  • We have developed a fluorescence optical detection system using a digital micromirror device (DMD) for monitoring 3D cell culture matrices in situ. Full 3D imaging with fast scanning speed was implemented by the combined action of a DMD and a motorized stage. Imaging results with fluorescent microbeads measure the minimum axial resolution of the system as $6.3{\mu}m$, while full 1-mm scanning through 3D alginate-based matrix was demonstrated. For cell imaging, improved images were obtained by removing background fluorescence although the scanning distance was reduced because of low intracellular fluorescence efficiency. The system is expected to be useful to study various dynamics and behaviors of 3-dimensionally cultured cells in microfluidic systems.

A Study on Quantification of Acoustic Amplification Using Dynamic Mode Decomposition Method (Dynamic Mode Decomposition 방법을 이용한 음향 증폭/감쇠 정량화에 관한 연구)

  • Jourdain, Guillaume;Eriksson, Lars-Erik;Kim, Su-Ho;Sohn, Chae-Hoon
    • Proceedings of the Korean Society of Propulsion Engineers Conference
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    • 2012.05a
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    • pp.364-366
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    • 2012
  • Quantification of acoustic amplification in a model chamber has been studied for combustion stabilization induced by passive control devices. DMD(Dynamic mode Decomposition) method is adopted and the results from method are compared with those from damping factor approach. The model chamber has a faceplate with baffled injectors, where damping factor has its maximum at a specific baffle gap. They show a good agreement with the results from the previous method.

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