• Journal of Genetic Medicine
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• v.19 no.1
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

• The Journal of the Acoustical Society of Korea
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• v.43 no.1
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• pp.49-59
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• 2024

Recently, the electric vehicle market is gradually growing due to strengthened environmental regulations and high oil prices. also, in internal combustion engine vehicles, the sensitivity of Buzz, Squeak, Rattle (BSR) noise is increasing as engine Noise, Vibration, and Harshness (NVH)-related noise is reduced and technology for shielding noise coming from outside is developed. In this study, the stick-slip noise that occurs in Panoramic Curved Display (PCD) of automobile was analyzed for the correlation between the surface energy of polymer plastic and the polar component. For polar polymer materials, Acrylonitrile Butadiene Styrene (ABS) and PolyCarbonate-Acrylonitrile Butadiene Styrene (PC-ABS), compound materials were fabricated and evaluated. As a result, when the polar component of the polymer plastic was 3.86 mN/m or higher, stick-slip motion occurred, and as the absolute transition slope increased in the friction behavior over time, the possibility of stick-slip noise increased and the value of the friction coefficient The greater the difference, the greater the strength of the stick-slip noise.

• Korean Journal of Applied Biomechanics
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• v.15 no.4
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• pp.43-53
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• 2005

This study is to define how the difference of athletic change influence on the last regrasp after somersault in Belle movement of parallel bars. For his study, the following conclusion was produced by analysis of athletic change by means of three dimensional visual image in three athlete of nation. 1. As the picture of S1, there are total used time(2.01 sec), S3(2.17 sec) and S2(2.19 sec). In case of a short needed time, it is difficult for them to perform the remaining movement of the vertical elevating flight easily and comfortably, it is judged as performing the small movement with restrict swing. 2 In the change of body center sped by each event, it is calculated as $-89.1^{\circ}$ the narrowest in S1, $-81.96^{\circ}$ the widest and then $86.34^{\circ}$ in S3. In E3 event, average compound speed is 4.07m/s, S2 showed the fastest speed of 4.14m/s whereas S1 the narrowest angle of 3.95m/s. 3. A shoulder joint and coxa are the period of mention in E3. In E4 which was pointed out the longest vertical distance, S2 that is indicated the highest vertical height as the period of detach in parallel bars. showed -3.91m. This is regarded as a preparatory movement for dynamic performance after using effectively elastic movement of shoulder joint and coxa while easily going up with turning back movement. In the 5th phrase, long airborne time and vertical change position is showed as the start while regrasping securely air flight movement from high position. 4. In E5, a long flight time and a long vertical displacement were shown as the regrasp after somersault efficiently in high position with stability from the point of the highest peak of the center of the body. Especially, S2 is marked as a little bit long position, while S1 is reversely indicated as performing somersault and unstable motion in a low position. 5. In E3, at the point of the largest extension of the shoulder joint and hip joint the shoulder joint is largely marked in $182^{\circ}$ and the hip point $182^{\circ}$ in S2. The shoulder joint is marked at the smallest angle in $177^{\circ}$ and the hip point $176^{\circ}$ in S1. And S1 is being judged by its performance of the less self - confident motion with lessening a breath of swing. S2 makes the most use of flexion and extension of the shoulder joint and the hip joint effectively. It was performed greatly with swinging and dropping the rotary movement and the rotary inertia naturally. 6. In E6, as the point of regrasp of the upper arm in parallel bars it is recognized by the that of components of vertical and horizontal velocity stably. During this study, the insufficient thing and the study on the parallel bars at a real game later are more activated than now. If it is really used as the basic materials by means of Belle Picked Study of Super E level after Bell movement, you may perceive the technique movement previously and perform without difficulty. Especially, such technique as crucifix is quite advantageous for oriental people thanks to small body shape condition. In conclusion we will nicely prepare for our suitable environment to gradually lessen trials and errors by analyzing and studying kinematically this movement.

• Journal of the Korean Society of Costume
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• v.30
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• pp.85-99
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• 1996

This study has been made to examine the symbolic meaning of our traditional costume colours based on the theory of yin-yang Wu-hsing the interaction of yin and yang with the rotation of the five agents wood firt earth metal and waters. Presenting the spirt and the life of our race the costume culture has been keep-ing its own systematic symbol. Being sensible the colour has to be under-stood as the colour sense therefore the cos-tume colour has begun to have the symbolic meaning with the feeling or the mental value. According to the theory of yin-yang wu-hsing the costume colour has presented our racial sprit way of thinking and way of life for a long time and it has become the tra-ditional culture at last. Based on the doctrine of cosmic harmony through the motion of yin and yang or the passive and active elements are their five agents form the material force of everything. The order of nature has its counterpart in five symbolic costume colours wood-blue ; fire-red: earth-yellow; metal-white: water-black. The five colours are called the primary colours. which produce the next compound colours. Accepted in the social system as well as the social stats the costume colour has set up systematically. The theory of Yin-yang Wu-hsing has given the five colours the symbolic meanings and its mainstream has been the function of Sangsaeng and Sangeuk which are genera-ted by the power of virture. The former is mu-tually beneficial while the latter destructive. The colour as a costume colour has been made distinction between the colour of the up-per classes and the colour of the middle and lower classes and the specific colour has presented the symbolic meanings. The yeollow the red and the purple have been regarded as the colour of king queen and upper classes Being the colour recognition the costume colour has been established by the society and the race generally Implied the spiritual elements the colour recognition could select the lucky colour in accordance with one's des-tiny. Besides the colour recognition has begun to appear as the racial costumes to protect the society and to pray for good fortune. According to the theory of Yin-yang Wu-hsing the costume colour has been forming through our long history and has become our costume culture. Therefore the colour of the costume has signified not only the colour sense but also the important symbolic meanings.