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Clinical Features, Molecular Analysis, and Outcome of ERT in Korean Patients with Mucopolysaccharidosis Type VI (국내 6형 뮤코다당증의 임상 양상, 분자유전학적 특징 및 효소치료의 효과에 대한 고찰)

  • Wichajarn, Khunton;Kim, Jinsup;Yang, Aram;Sohn, Young Bae;Lee, Beom Hee;Yoo, Han-Wook;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.1
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    • pp.24-33
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    • 2016
  • Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

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The Effects of a Group music psychotherapy program on Parenting Stress, and Self-Efficacy in Mothers of Children with Disabilities (그룹 음악심리치료 프로그램이 장애아동 어머니의 양육 스트레스와 자기효능감에 미치는 영향)

  • Yang, Ji Eun
    • Journal of Music and Human Behavior
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    • v.4 no.1
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    • pp.1-20
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    • 2007
  • Mothers of Children with Disabilities have many difficulties in parenting because of their children's disabilities. The purpose of this study was to examine the effects of a Group music psychotherapy programs on parenting stress and self efficacy, and to explore the experiences of the mothers who participated in the program. Twenty mothers of children with disabilities participated in this study. These twenty mothers were divided into 10 mothers of each group. The Experimental group participated in the Group music psychotherapy programs, while the control group did not. The Group music psychotherapy program was implemented for 8 weeks. To prove the effects of the program, pretest-posttest control group design was applied. The differences between pre-test and post-test of two groups were analyzed using independent t-test. The quantitative results of the study were as follows: First, a significant differences was found between the experimental group and control group in parenting stress level. Second, a significant differences was found between the experimental group and control group in self-efficacy level. From the qualitative analyses, four themes emerged from the decrement of parenting stress; Positive change of recognition about their children, Getting rid of stress, Keeping their composure, and Sharing of their emotions. And three themes emerged from the increment of self-efficacy; Discovery of oneself, New stimulus, and Mental support. All the result described above shows that group music psychotherapy program gives positive effect to decrease in parenting stress and also to increase in self-efficacy. And new possibility and effectiveness can be proposed in the music therapeutic approach to the parents of children with disabilities.

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A Study on the Installation of Groyne using Critical Movement Velocity and Limiting Tractive Force (이동한계유속과 한계소류력을 활용한 수제 설치에 관한 연구)

  • Kim, Yeong Sik;Park, Shang Ho;An, Ik Tae;Choo, Yeon Moon
    • Journal of Wetlands Research
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    • v.22 no.3
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    • pp.194-199
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    • 2020
  • Unlike in the past, the world is facing water shortages due to climate change and difficulties in simultaneously managing the risks of flooding. The Four Major Rivers project was carried out with the aim of realizing a powerful nation of water by managing water resources and fostering the water industry, and the construction period was relatively short compared to the unprecedented scale. Therefore, the prediction and analysis of how the river environment changes after the Four Major Rivers Project is insufficient. Currently, part of the construction section of the Four Major Rivers Project is caused by repeated erosion and sedimentation due to the effects of sandification caused by large dredging and flood-time reservoirs, and the head erosion of the tributaries occurs. In order to solve these problems, the riverbed maintenance work was installed, but it resulted in erosion of both sides of the river and the development of new approaches and techniques to keep the river bed stable, such as erosion and excessive sedimentation, is required. The water agent plays a role of securing a certain depth of water for the main stream by concentrating the flow so much in the center and preventing levee erosion by controlling the flow direction and flow velocity. In addition, Groyne products provide various ecological environments by forming a natural form of riverbeds by inducing local erosion and deposition in addition to the protection functions of the river bank and embankment. Therefore, after reviewing the method of determining the shape of the Groyne structure currently in use by utilizing the mobile limit flow rate and marginal reflux force, a new Critical Movement Velocity(${\bar{U}}_d$) and a new resistance coefficient formula considering the mathematical factors applicable to the actual domestic stream were developed and the measures applicable to Groyne installation were proposed.

A Study of the Japanese Colonial Era Rock-Carved Seated Avalokiteśvara Statue at Ganghwa Bomunsa Temple (일제강점기 강화 보문사 마애관음보살좌상 연구)

  • Lee, Jumin
    • Korean Journal of Heritage: History & Science
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    • v.53 no.3
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    • pp.62-79
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    • 2020
  • The rock-carved seated Avalokiteśvara statue at Ganghwa Bomunsa Temple is a giant rock-carved Buddhist statue that was built in 1928 during the Japanese colonial era. Although it is a year-recorded Buddhist statue that occupies a prominent place in modern Korean Buddhist sculpture history, it has not been the subject of in-depth discussion due to weak research on modern Buddhist sculptures. In this study, to examine the various significant aspects of the rock-carved Seated Avalokiteśvara statue at Bomunsa Temple as a modern Buddhist sculpture, I have managed to determine its construction year, artificers, and patrons by deciphering the inscription around the rock-carved statue; in addition I have researched the effects of the rock shapes and landforms on the formation of the Buddhist statue by comparing and analyzing the points of view of both artificers and worshipers. I have also identified the specific circumstances of the time of construction from interviews with the descendants of artificers. A monk from Geumgangsan Mountain, Lee Hwaeung, took the role of sponsor and chief painter to construct the rock-carved seated Avalokiteśvara statue at Bomunsa temple. In the beginning of its construction in 1928, more than 100 donators jointly sponsored the construction of the statue. Gansong Jeon Hyoungphil sponsored alone at the time of the place of worship's expansion in 1938. Bomunsa Temple has been regarded as one of the top-three sacred places of Avalokiteśvara Bodhisattva together with Naksansa Temple in Yang Yang and Boriam in Nam Hae, due to the construction of the rock-carved statue. It took about three months to construct the statue. Lee Hwaeung drew a rough sketch and then Un Songhag and five masons from Ganghwa Island took part in the carving process. We can observe the line drawing technique around the rock-carved statue because the statue was carved based on the rough sketch of the monk painter. The aspect of Lee Hwaeung as a painter is revealed; therefore, we can identify the clue of painting pattern leading to Seogongchulyou- Hwaunghyoungjin- Ilonghyegag. The rock-carved seated Avalokiteśvara statue at Bomunsa Temple is a typical Avalokiteśvara that wears a jeweled crown and holds Kundica. It makes a strong impression as it has a big square-shaped face and a short neck and is unsophisticated in general. The artificers solved the issue of visual distortion of the rock-carved statue caused by carving on a 10-meter high and 40-degree sloping rock by controlling motion to its maximum, omitting detailed expression by emphasizing symmetry, and adjusting the head-to-body proportion to be almost one-to-one. In this study, especially, I presume the unified form of sacred sculptures and Buddhist altars, without making a Buddhist altar like the rock-carved seated Avalokiteśvara statue at Bomunsa Temple, to be a key characteristic of modern Buddhist sculptures. Furthermore, I make newly clear that the six letters of Sanskrit carved on nimbus, which had been interpreted as a Six-Syllable Mantra, are a combination with Jeongbeopgye and Sabang Mantras. In addition, three iron rings driven on eaves rock were used as a reference point, and after construction they were used as a decoration for the Bodhisattva with hanging wind chimes.

Production of $[^{18}F]F_2$ Gas for Electrophilic Substitution Reaction (친전자성 치환반응을 위한 $[^{18}F]F_2$ Gas의 생산 연구)

  • Moon, Byung-Seok;Kim, Jae-Hong;Lee, Kyo-Chul;An, Gwang-Il;Cheon, Gi-Jeong;Chun, Kwon-Soo
    • Nuclear Medicine and Molecular Imaging
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    • v.40 no.4
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    • pp.228-232
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    • 2006
  • Purpose: electrophilic $^{18}F(T_{1/2}=110\;min)$ radionuclide in the form of $[^{18}F]F_2$ gas is of great significance for labeling radiopharmaceuticals for positron omission tomography (PET). However, its production In high yield and with high specific radioactivity is still a challenge to overcome several problems on targetry. The aim of the present study was to develop a method suitable for the routine production of $[^{18}F]F_2$ for the electrophilic substitution reaction. Materials and Methods: The target was designed water-cooled aluminum target chamber system with a conical bore shape. Production of the elemental fluorine was carried out via the $^{18}O(p,n)^{18}F$ reaction using a two-step irradiation protocol. In the first irradiation, the target filled with highly enriched $^{18}O_2$ was irradiated with protons for $^{18}F$ production, which were adsorbed on the inner surface of target body. In the second irradiation, the mixed gas ($1%[^{19}F]F_2/Ar$) was leaded into the target chamber, fellowing a short irradiation of proton for isotopic exchange between the carrier-fluorine and the radiofluorine absorbed in the target chamber. Optimization of production was performed as the function of irradiation time, the beam current and $^{18}O_2$ loading pressure. Results: Production runs was performed under the following optimum conditions: The 1st irradiation for the nuclear reaction (15.0 bar of 97% enriched $^{18}O_2$, 13.2 MeV protons, 30 ${\mu}A$, 60-90 min irradiation), the recovery of enriched oxygen via cryogenic pumping; The 2nd irradiation for the recovery of absorbed radiofluorine (12.0 bar of 1% $[^{19}F]fluorine/argon$ gas, 13.2 MeV protons, 30 ${\mu}A$, 20-30 min irradiation) the recovery of $[^{18}F]fluorine$ for synthesis. The yield of $[^{18}F]fluorine$ at EOB (end of bombardment) was achieved around $34{\pm}6.0$ GBq (n>10). Conclusion: The production of $^{18}F$ electrophilic agent via $^{18}O(p,n)^{18}F$ reaction was much under investigation. Especially, an aluminum gas target was very advantageous for routine production of $[^{18}F]fluorine$. These results suggest the possibility to use $[^{18}F]F_2$ gas as a electrophilic substitution agent.

Synthesis of Cyclen-Based Copper Complexes as a Potential Estrogen Receptor Ligand (에스트로젠 수용체 리간드로서 사이클렌을 기본 구조로 한 구리 착물의 합성)

  • Park, Jeong-Chan;Pandya, Darpan N.;Jeon, Hak-Rim;Lee, Sang-Woo;Ahn, Byeong-Cheol;Lee, Jae-Tae;Yoo, Jeong-Soo
    • Nuclear Medicine and Molecular Imaging
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    • v.41 no.4
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    • pp.326-334
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    • 2007
  • Purpose: The estrogen receptor (ER), which is over-expressed in ER-positive breast tumors, has been imaged by positron emission tomography (PET) using $[^{18}F]$ labeled estrogen ligands, especially $[^{18}F]FES$. However, $[^{18}F]$ has relatively short-lived half-life ($t_{1/2}$ =1.8 h) and the labeling yield of radio-fluorination is usually low compared with $^{64}Cu\;(t_{1/2}=12.7\;h)$. 1,4,7,10-tetraazacyclododecane (cyclen) is used to form stable metal complexes with copper, indium, gallium, and gadolinium. With these in mind, we prepared cyclen-based Cu complexes which mimic estradiol in aspect of two hydroxyl groups. Materials and Methods: 1.7-Protected cyclen, 1.7-bis (benzyloxycarbonyl)-cyclen was synthesized according to the reported procedure. After introducing two 4-benzyloxybenzyl groups at 4,10-positions, the benzyloxycarbonyl and benzyl groups were removed at the same time by hydrogenation on Pd/C to give 1,7-bis(4-hydroxybenzyl)-1,4,7,10-tetraazacyclododecane (1). Results: The prepared ligand 1 was fully characterized by $^1H,\;^{13}C$ NMR, and mass spectrometer. The synthesized ligand was reacted with copper chloride and copper perchlorate to give copper complexes $[Cu(1)]^{2+}2(CIO_4^-)\;and\;[Cu(1)Cl]^+Cl^-$ which were confirmed by high-resolution mass (FAB). Conclusion: We successfully synthesized a cyclen derivative of which two phenol groups are located on trans position of N-atoms. And, two Cu(ll) complexes of +2 and +1 overall charge, were prepared as a potential PET tracers for ER imaging.

College Students' Dietary Behavior, Health-Related Lifestyles and Nutrient Intake Status by Physical Activity Levels using International Physical Activity Questionnaire (IPAQ) in Incheon Area (국제신체활동설문(IPAQ)을 이용한 신체활동도에 따른 인천지역 대학생의 식행동, 건강관련 생활습관 및 식이섭취 조사)

  • Yoo, Jeong-Soon;Chin, Jeong-Hee;Kim, Mi-Jung;Jang, Kyung-Ja
    • Journal of Nutrition and Health
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    • v.41 no.8
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    • pp.818-831
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    • 2008
  • The purpose of this study was to investigate the dietary behavior, health-related lifestyles and nutrient intake status of college students according to physical activity levels. The physical activity levels were measured using the Korean version of the International Physical Activity Questionnaire (IPAQ) short form. The subjects of this study were 438 college students (243 males and 195 females) in Incheon area and were divided by gender and by physical activity levels, which included low, moderate and high physical activity groups. The average age of male and female students were 23.7 and 21.0 years old, respectively. The prevalence of the low physical activity group was 11.5% for males and 30.8% for females and that of the high physical activity group was 38.7% for males and 22.6% for females. According to the criteria for obesity in Asia-Pacific region, 39.1% of the males and 64.1% of the female students investigated were in the normal range of BMI and 30.9% of the males and 4.6% of the female students were in the obesity category. However, percent of body fat in the female students was significantly higher than that of the male students. The soft lean mass of the high physical activity group was higher compared to the other groups. In the low physical activity group, frequency of “eating out” was lower compared to the other groups. The average consumption of energy was 74.4% for males and 80.1% for females of the estimated energy requirement (EER). The mean intakes of vitamin C, vitamin B2, folic acid and Ca were 67.3%, 84%, 52.7% and 36.7% for males and 64.8%, 99.9%, 51.1% and 40.1% for females of recommended intake (RI), respectively. Therefore, it was necessary for obesity prevention as well as health promotion to increase physical activity and to eat an adequate, balanced diet in female college students.

Simultaneous Multiple Transmit Focusing Method with Orthogonal Chirp Signal for Ultrasound Imaging System (초음파 영상 장치에서 직교 쳐프 신호를 이용한 동시 다중 송신집속 기법)

  • 정영관;송태경
    • Journal of Biomedical Engineering Research
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    • v.23 no.1
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    • pp.49-60
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    • 2002
  • Receive dynamic focusing with an array transducer can provide near optimum resolution only in the vicinity of transmit focal depth. A customary method to increase the depth of field is to combine several beams with different focal depths, with an accompanying decrease in the frame rate. In this Paper. we Present a simultaneous multiple transmit focusing method in which chirp signals focused at different depths are transmitted at the same time. These chirp signals are mutually orthogonal in a sense that the autocorrelation function of each signal has a narrow mainlobe width and low sidelobe levels. and the crossorelation function of any Pair of the signals has values smaller than the sidelobe levels of each autocorrelation function. This means that each chirp signal can be separated from the combined received signals and compressed into a short pulse. which is then individually focused on a separate receive beamformer. Next. the individually focused beams are combined to form a frame of image. Theoretically, any two chirp signals defined over two nonoverlapped frequency bands are mutually orthogonal In the present work. however, a tractional overlap of adjacent frequency bands is permitted to design more chirp signals within a given transducer bandwidth. The elevation of the rosscorrelation values due to the frequency overlap could be reduced by alternating the direction of frequency sweep of the adjacent chirp signals We also observe that the Proposed method provides better images when the low frequency chirp is focused at a near Point and the high frequency chirp at a far point along the depth. better lateral resolution is obtained at the far field with reasonable SNR due to the SNR gain in Pulse compression Imaging .

Intake of Antioxidant Nutrients and Risk of Metabolic Syndrome according to Degree of Stress in Rural Korean Women (한국 농촌 여성의 스트레스 정도에 따른 항산화 영양소 섭취와 대사증후군 위험도)

  • Yoon, Jungwon;Shin, Yoonjin;Kang, Bori;Byeon, Suji;Kim, Soo A;Kim, Yangha
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.46 no.7
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    • pp.868-875
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    • 2017
  • The aim of the present study was to investigate antioxidant nutrient intake and risk of metabolic syndrome based on stress level in rural Korean women. Subject were participants from the Multi-Rural Communities Cohort Study, which was a part of the Korean Genome and Epidemiology Study. According to scores of the Psychosocial Well-Being Index Short-Form, a total of 10,111 subjects were classified into 'low stress group (n=8,015)' from 0 to 26 points and 'high stress group (n=2,096)' above 27 points. Data were collected using self-administered questionnaires, anthropometric measurements, and blood chemical analysis. Dietary nutrient consumption was assessed by a semi-quantitative food frequency questionnaire. High stress group showed lower intake of antioxidant nutrients, such as vitamin A, vitamin C, vitamin E, folate, zinc, and carotene compared to the low stress group. Intake of fruits and vegetable was lower in the high stress group compared to the low stress group. Subjects with high stress showed higher risk of hypertension [odd ratio (OR), 95% confidence interval (CI)=1.226 (1.112~1.351)] and hypertriglyceridemia [OR, 95% CI=1.227 (1.110~1.356)] than subjects with low stress. High stress group had a significantly greater odds ratio for metabolic syndrome compared with the low stress group [OR, 95% CI=1.216 (1.101~1.342]). Thus, the present study suggests that high stress might be associated with low intake of antioxidant nutrients and high risk of metabolic syndrome in rural Korean women.

A Study on the Relationship between the Tax Evasion Factors and the Tax Evasion Inclination of Value Added Tax in Korea (부가가치세 포탈요인과 포탈성향에 관한 실증적 연구)

  • Kim, Beom-Jin;Ham, Young-Bok
    • Korean Business Review
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    • v.14
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    • pp.1-30
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    • 2001
  • To prevent the VAT evasion and to form a sound VAT paying culture, we can draw the policy directions for government as follows: First, it is necessary to strengthen the tax supervision of small business and the administration of tax sources of cash-income industry. Second, the tax-deductible rate of the received tax invoices should be increased in a short-term base, and a simplified taxation system should be abolished in a long-term base. Third, in cases a trader has not received a tax invoice, an additional tax should be applied. Forth, to issue the tax invoice faster and conveniently, it is requested to introduce a new system which issues electronic card of registration when a businessman applies for his/her business registration. Fifth, to make tax standard transparent, it is desirable to punish the violator, relating to credit card regulations, stricter than present and to enforce the electronic bookkeeping. Sixth, for the reduction of noncompliance rate and creating a climate for autonomous, faithful tax return, it is necessary to expand and intensify tax investigation. And also it is necessary to make the level of penalty tax higher up and the level of criminal punishment less down, to keep up tax audit coverage. Seventh, a trader who is eligible for simplified taxation, whose tax base is under 12,000 thousand won, should not be required to pay the value added tax. But it is desirable to cut down them for the fairness of tax burden. Eighth, the effective date of the revised tax law should be fixed. Ninth, it is necessary to reinforce publicity and to educate on tax system and administration, for reducing tax evasion or tax avoidance and encouraging faithful tax return. Tenth, as the tendency of VAT evasion of distribution industry turns out to be the highest, it is requested not only to intensify tax administration on them but also to establish system and incentives, for introducing information system in distribution industry(introducing POS system, computerization of transaction record, establishing EDI between traders).

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