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A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.20-25
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    • 2019
  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

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Comparative Analysis of Fracture Angulation between Parallel Pinning and Plate Fixation Techniques in the Management of 5th Metacarpal Fractures (제 5 수지 중수골 골절에서 평행 핀 또는 플레이트 고정술 이후 골절각 변화에 대한 비교 연구)

  • Lee, Myungchul;Shin, Hyojung;Choi, Hyungon;Kim, Jeenam;Shin, Donghyeok
    • Archives of Hand and Microsurgery
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    • v.23 no.4
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    • pp.230-238
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    • 2018
  • Purpose: Metacarpal fractures are common injuries of the hand. They are treated using closed reduction (CR) or open reduction (OR) techniques. The management strategy depends on fracture site characteristic and fixation methods. In this study, we evaluated pre- and postoperative fracture angulation, when metacarpal fractures bad been treated using two different techniques: CR with parallel transverse pinning and OR with plate fixation. Methods: Forty-six patients undergoing anatomic reduction to treat extra-articular metacarpal fractures were recruited. They were included in one of two therapeutic groups: Group 1, CR with parallel transverse pinning (n=21); Group 2, OR with plate fixation (n=25). Fracture angulation values have been measured on pre- and postoperative radiologic images. Values were compared between pre- and postoperative states, and between corresponding measurements of each group. Results: All extra-articular metacarpal fractures were successfully treated without wound related complications or the limit of joint motion. Both groups demonstrated adequate reduction at immediate postoperative period (postoperative angulation of group 1, $20^{\circ}{\pm}7^{\circ}$; group 2, $19^{\circ}{\pm}5^{\circ}$). During the observation at follow-up period, Group 1 exhibited slight recurrence (follow-up angulation of group 1, $24^{\circ}{\pm}10^{\circ}$). Nonetheless, Group 2 showed adequate reduction state in both immediate postoperative and long-term follow-up periods (follow-up angulation of group 2, $18^{\circ}{\pm}6^{\circ}$). Conclusion: Extra-articular metacarpal fractures were successfully restored without functional complications. CR with parallel transverse pinning method exhibited recurrence after pin removal, which necessitates cautious postoperative exercise and monitoring.

Clinical Practice Guideline for Cardiac Rehabilitation in Korea

  • Kim, Chul;Sung, Jidong;Lee, Jong Hwa;Kim, Won-Seok;Lee, Goo Joo;Jee, Sungju;Jung, Il-Young;Rah, Ueon Woo;Kim, Byung Ok;Choi, Kyoung Hyo;Kwon, Bum Sun;Yoo, Seung Don;Bang, Heui Je;Shin, Hyung-Ik;Kim, Yong Wook;Jung, Heeyoune;Kim, Eung Ju;Lee, Jung Hwan;Jung, In Hyun;Jung, Jae-Seung;Lee, Jong-Young;Han, Jae-Young;Han, Eun Young;Won, Yu Hui;Han, Woosik;Baek, Sora;Joa, Kyung-Lim;Lee, Sook Joung;Kim, Ae Ryoung;Lee, So Young;Kim, Jihee;Choi, Hee Eun;Lee, Byeong-Ju;Kim, Soon
    • Journal of Chest Surgery
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    • v.52 no.4
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    • pp.248-329
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    • 2019
  • Background: Though clinical practice guidelines (CPGs) for cardiac rehabilitation (CR) are an effective and widely used treatment method worldwide, they are as yet not widely accepted in Korea. Given that cardiovascular disease is the second leading cause of death in Korea, it is urgent that CR programs be developed. In 2008, the Government of Korea implemented CR programs at 11 university hospitals as part of its Regional Cardio-Cerebrovascular Center Project, and 3 additional medical facilities will be added in 2019. In addition, owing to the promotion of CR nationwide and the introduction of CR insurance benefits, 40 medical institutions nationwide have begun CR programs even as a growing number of medical institutions are preparing to offer CR. The purpose of this research was to develop evidence-based CPGs to support CR implementation in Korea. Methods: This study is based on an analysis of CPGs elsewhere in the world, an extensive literature search, a systematic analysis of multiple randomized control trials, and a CPG management, development, and assessment committee comprised of 33 authors-primarily rehabilitation specialists, cardiologists, and thoracic surgeons in 21 university hospitals and 2 general hospitals. Twelve consultants, primarily rehabilitation, sports medicine, and preventive medicine specialists, CPG experts, nurses, physical therapists, clinical nutritionists, and library and information experts participated in the research and development of these CPGs. After the draft guidelines were developed, 3 rounds of public hearings were held with staff members from relevant academic societies and stakeholders, after which the guidelines were further reviewed and modified. Results: CR involves a more cost-effective use of healthcare resources relative to that of general treatments, and the exercise component of CR lowers cardiovascular mortality and readmission rates, regardless of the type of coronary heart disease and type and setting of CR. Conclusion: Individualized CR programs should be considered together with various factors, including differences in heart function and lifestyle, and doing so will boost participation and adherence with the CR program, ultimately meeting the final goals of the program, namely reducing the recurrence of myocardial infarction and mortality rates.

A Study on the Cost Reduction Strategy of Aviation Ammunition (항공탄약 구매 비용 절감 방안에 관한 연구)

  • Kim, Yu-Hyun;Eom, Jung-Ho
    • Journal of National Security and Military Science
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    • s.15
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    • pp.57-86
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    • 2018
  • The ROKAF has been training for a number of exercise for victory in the war, but the lack of aviation ammunition has become a big issue every year. However, due to the limitation of defense resources, there are many difficulties in securing and stockpiling ammunition for the war readiness. Therefore, there is a need to find a way to secure aviation ammunition for war readiness in a more economical way, so In this study, we analyze the precedent research case and the case of the reduction of the purchase cost of weapon system of other countries, and then I have suggested a plan that is appropriate for our situation. As a result of examining previous research cases for this study, there were data that KIDA studied in 2012, Precision-guided weapons acquisition cost reduction measures pursued by US Air Force And the use of procurement agencies that are being implemented by NATO member countries. Based on this study, the following four measures were proposed to reduce the purchase cost of aviation ammunition. First, the mutual aid support agreement was developed to sign the ammunition joint operation agreement. Second, join the NATO Support & Procurement Agency (NSPA) Third, it builds a purchasing community centered on the countries operating the same ammunition Fourth, participating in the US Air Force's new purchase plan for ammunition and purchase it jointly. The main contents of these four measures are as follows. 1. the mutual aid support agreement was developed to sign the ammunition joint operation agreement. Korea has signed agreements on mutual logistics support with 14 countries including the United States, Israel, Indonesia, Singapore, Australia, and Taiwan. The main purpose of these agreements is mutual support of munitions and materials, also supporting the training of the peace time and promoting exchange and cooperation. However, it is expected that there will be many difficulties in requesting or supporting mutual support in actual situation because the target or scope of mutual aid of ammunition is not clearly specified. Thus, a separate agreement on the mutual co-operation of more specific and expanded concepts of aviation ammunition is needed based on the current mutual aid support agreements 2. join the NATO Support & Procurement Agency (NSPA) In the case of NATO, there is a system in which member countries purchase munitions at a low cost using munitions purchase agencies. It is the NATO Purchasing Agency (NSPA) whose mission is to receive the purchasing requirements of the Member Nations and to purchase them quickly and efficiently and effectively to the Member Nations. NSPA's business includes the Ammunition Support Partnership (ASP), which provides ammunition purchase and disarming services. Although Korea is not a member of NATO, NSPA is gradually expanding the scope of joint procurement of munitions, and it is expected that Korea will be able to join as a member. 3. it builds a purchasing community centered on the countries operating the same ammunition By benchmarking the NSPA system, this study suggested ways to build a purchasing community with countries such as Southeast Asia, Australia, and the Middle East. First, it is necessary to review prospectively how to purchase ammunition by constructing ammunition purchasing community centered on countries using same kind of ammunition. 4. participating in the US Air Force's new purchase plan for ammunition When developing or purchasing weapons systems, joint participation by several countries can reduce acquisition costs. Therefore, if the US Air Force is planning to acquire aviation ammunition by applying it to the purchase of aviation ammunition, we will be able to significantly reduce the purchase cost by participating in this plan. Finally, there are some limitations to the method presented in this study, but starting from this study, I hope that the research on these methods will be actively pursued in the future.

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A Systematic Study on the Multifaceted Lifestyle Assessment Tools For Community-dwelling Elderly: Trend and Application Prospect (지역사회 거주 고령자의 라이프스타일 측정도구에 관한 조사: 경향과 활용전망)

  • Park, Kang-Hyun;Won, Kyung-A;Park, Ji-Hyuk
    • Therapeutic Science for Rehabilitation
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    • v.8 no.3
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    • pp.7-29
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    • 2019
  • Objective: The purpose of this study is to analyze comprehensive lifestyle assessment and other assessments which evaluate essential lifestyle factors, including physical activity, nutrition and activity participation. Methods: To analyze the comprehensive lifestyle assessment, from January 2001 to June 2019, a literature search was conducted using the CINANL, NDSL, PubMed, and RISS databases. The search terms were 'lifestyle assessment' OR 'lifestyle profile' OR 'lifestyle test'. In terms of other assessments of essential factors of lifestyle, from January 2010 to June 2019, articles were searched using similar databases. The search terms were 'physical activity assessment' OR 'physical activity participation profile', 'nutrition assessment', 'activity participation assessment' OR 'activity participation and lifestyle'. Results: A total of 4,165 articles were obtained, and finally 31 articles were selected according to the inclusion criteria. Among 31 articles, there were five with comprehensive lifestyle assessments, and all of them were self-report questionnaires. The most popular assessments were the Health Enhancement Lifestyle Profile (HELP) and the Health-Promoting Lifestyle Profile (HPLP), which were used in three articles (33%). In terms of assessment of physical activity, the most frequently used evaluation method was the self-report questionnaire, which was used in seven articles (58%) followed by objective assessments, which were used in four articles (33%). It was demonstrated that the Mini-Nutritional Assessment (MNA) was the most frequently used for nutrition assessment in the elderly. There were five types of assessment tool used for activity participation. Among them, meaningful activity participation assessment (MAPA) was the most frequently used tool. Conclusion: As a result of the systematic review, it was found that there are 21 assessments related to the evaluation of lifestyle in the elderly. Most assessments employed the self-report questionnaire method and mainly evaluated frequency and duration of participation in drinking, smoking, exercise, nutrition and social activities. Assessments of essential lifestyle factors were the self-report questionnaire method and the participation and frequency of activity. Therefore, by analyzing assessment tools, types of items and measurement methods of comprehensive lifestyle assessments and other assessment of essential lifestyle factors, this study provides the basic data on which to develop a standardized assessment tool that can evaluate the multifaceted lifestyle profile of the elderly.

Nutrition Knowledge and Eating Behavior of Middle School Students in Gwangju Area (광주지역 중학생의 영양지식 및 식습관)

  • Han, Dae-In;Jung, Lan-Hee
    • Journal of Korean Home Economics Education Association
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    • v.33 no.3
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    • pp.41-63
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    • 2021
  • The purpose of this study was to investigate the nutritional knowledge and eating behavior of middle school students in Gwangju area in order to provide basic data for the development of home economics curriculum that can help the students form healthy eating habits. For this purpose, a self-administered questionnaire was distributed to middle school students in Gwangju area. A total of 330 questionnaires were collected by convenience sampling and analyzed using SPSS(Statistics Package for the Social Science) Version 20.0 for Windows. Results of this study are as follows. First, school curriculum session ranked top(31.82%) on the list of sources for middle school students to acquire nutrition knowledge. Second, the mean score of nutrition knowledge of all respondents was moderately high(14.33 points out of maximum 20 points). In terms of nutrition knowledge by gender, female students had a higher level of nutrition knowledge in the 'Food' domain than their male counterparts(p<0.05). With regard to nutrition knowledge by grade, Grade 9 showed a higher score than Grade 7 and 8(p<0.001). Third, the mean score of eating behavior of all respondents was at an average level(69.75 out of 100 points). In terms of eating behavior by gender, male students showed a higher score than their female counterparts(p<0.05). In particular, male students had higher scores than female students for the following items: "I exercise regularly after school"(p<0.001); "I regularly eat meal three times per day"(p<0.01); "I don't skip breakfast"(p<0.01); and "I don't eat sweet food often"(p<0.01). In terms of eating behavior by grade, Grade 9 showed higher scores than Grades 7 and 8 for the following items: "I eat meal out of thankfulness for those who have prepared food"(p<0.01) and "I eat grains for every meal"(p<0.01). Finally, with regard to eating behavior depending on the level of nutrition knowledge, the 'Upper' and 'Middle' groups had higher scores for eating behavior than the 'Lower' group, indicating that a lower level of nutrition knowledge resulted in a lower score in eating behavior. Based on the above results, home economics teachers responsible for dietary education should have a greater sense of mission and pride and make more efforts to improve nutrition knowledge and eating behavior of middle school students.

The snacking pattern, diet, lifestyle and menu preferences of elementary school students in Gyeonggi area, considering the most frequently eaten snacks (자주 섭취하는 간식의 종류에 따른 경기지역 초등학교 고학년생의 간식섭취실태, 식생활과 생활습관 및 음식 기호도)

  • Park, Hyejin;Kang, Hyunjoo;Lee, Eun-Sook;Lee, Hongmie
    • Journal of Nutrition and Health
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    • v.54 no.5
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    • pp.547-559
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    • 2021
  • Purpose: This study compares the snacking pattern, diet, lifestyle, and food preference of children by evaluating the most frequently eaten snacks. Methods: The survey enrolled 435 students from three elementary schools in Gyeonggi. Based on the most frequently eaten snacks, the subjects were divided into 3 groups: fruits and milk/dairy products for natural snacks (NS, n = 114); noodles, snack foods and fast foods for meal-like snacks (MS, n = 74); cookies, beverages and bread as sweet snacks (SS, n = 247). Results: Compared to the MS group, preferences of the NS group were significantly higher for jabgokbap (cooked rice with multi-grains, p < 0.05) and saengchae (seasoned raw vegetables, p < 0.01), and significantly lower for gogitwigim (deep-fried meat, p < 0.05). Taste preference of the NS group was considered to be more desirable; the taste preference of more subjects was 'sweet taste' in the SS group, 'spicy taste' in the MS group, 'salty taste' in the MS and SS groups, and 'sour taste' and 'bland taste' in the NS group than the other groups. Compared to the MS and SS groups, the NS group was determined to exercise more frequently; exercising for more than 30 minutes/day was determined to be 76.3% in the NS group and 58.1% and 57.9% in the other groups (p < 0.01). Moreover, a higher proportion of subjects in the MS group tended to answer 'not hungry' as the reason for leaving school meals, as compared to other groups (p = 0.055), thereby suggesting that inappropriate snacking habits interfere with regular meals. Conclusion: This study provides evidence that healthy snacking habits, which include natural snacks such as milk/dairy products and fruits, are important for children during the elementary school years, since these habits are associated with healthier diet, lifestyle, and food and taste preferences. These results provide basic information for developing nutritional education materials for elementary school children.

A Study on the Regimen thought of Baopuzi inner chapters (『포박자내편(抱朴子內篇)』의 양생사상 연구)

  • Shin, Jin Sik
    • The Journal of Korean Philosophical History
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    • no.43
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    • pp.231-266
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    • 2014
  • The main contents of Baopuzi inner chapters becomes the basis for the claim "to be achieved Xian the way people can be" named and Shenxian theory that is deployed in the center of the universe body theory with a focus on Xuan and YI and Tao and a problem of "demonstration of Shenxian exist", or ancient science that describes the Chinese alchemy and Taoism spell in other words, inner chapters are writing and how to get prescription way of Shenxian, of medicine to become a predecessors, elephant of some of the changes in the ghost apparition, the longevity, how to avoid the epidemic out of the evil. Inner chapters are presented a regimen thought, the rationale for its mystical religion and philosophy of Monasticism ship on the basis of the theory Shenxian so. Baopuzi Inner chapters is presented in detail how to reach a comprehensive and realistic Shenxian long life in prison without the pre-Qin dynasty Taoism and Qinhan dynasty and times across the Weijin dynasty Shenxian ideas. And is presented in a typical Waidan and Neidan Taoism exercise this system and that in Taoism (Regimen) Thought the important position. Thought of Regimen is very important right information Inner chapters which constitutes the establishment of an important theoretical basis Shenxian Taoism of Gehong this research right in that you can see at a glance the thought of Regimen of Inner chapters is the desperate need for this requirement. It aims to illuminate the entire look of Regimen ever appeared immediately in Inner chapters this paper. After the analysis of the body Tao theory, The theory of the body and the spirit, The theory of Xingming, The theory of Shenxian theoretical foundations of thought appeared in Inner chapters Based on this, the first one conducted regulating the qi flowing in the channels method, Daoyin method, Pranayama, Closed breath, I saw one at the specifics of regimen method such, art of controlling and swallowing breath from the mouth, Convinced, Tuna breathing, Sishenshouyi method, Jinehuandan method, Fangzhongshu. And reporting features found Inner chaptersfinally saw the spirit of Regimen weigh its value.

The Haenam Yoon's the 8th jonbu(종부) Gwangju Lee's family management in Korean letter of Joseon era (한글편지에 나타난 해남윤씨가 8대 종부 광주이씨의 가문경영)

  • Lee, hyun-ju
    • (The)Study of the Eastern Classic
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    • no.73
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    • pp.385-414
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    • 2018
  • In this article, the women as the subject of the family management in the 19th century cataclysm, In particular, I tried to reconstruct the specific life course of a woman who has a status as a jongbu(종부) in the Korean language through the Hangul letter. The Haenam Yoon's the 8th jongbu(종부) Gwangju Lee attempted to find her own unique identity, not the male-centered social order she had learned. Because she had to live a life outside the traditional environment of traditional society because her husband died at the beginning of her marriage. She perceived herself as an independent subject that she had to find and maintain. When Gwangju Lee married and came to the family of Haenam Yun, the economic power of jong-ga(종가) was much inclined. This economic difficulty was caused by the conflict with the slaves and the decrease of tallage(地代) to the change of the slavery system which was the social flow at that time. And uncles of her husband's intervention made the economic situation of the family more difficult. She established her position as a jongbu(종부) and used the right of Adoption option(입후권) of the jongbu(종부) to establish the impoverished family. She chose adoption from distant relatives who were not children of her husband's uncles. Therefore, I was free from her husband uncle's interests. She also believed that it was most important to take control of the economic interests of her family in order to secure her authority as a jongbu(종부). She believed that she had to exercise her economic rights in order to bring slave labor, which is the most important means of sustaining the domestic economy at the time, In the absence of her husband, she established her family in the social upheaval of the nineteenth century, and took her place as a master of a family, not just a family name.

The Fiduciary Duties of Doctor in Clinical Trials (임상시험에서 의사의 선량한 관리자의 주의의무)

  • Lee, Jiyoun
    • The Korean Society of Law and Medicine
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    • v.21 no.2
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    • pp.163-207
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    • 2020
  • Korea has been positioned as the leading country in the industry of clinical trials as the clinical trail of Korea has developed for the recent 10 years. Clinical trial has plays a significant role in the development of medicine and the increase of curability. However, it has inevitable risk as the purpose of the clinical trial is to prove the safety and effectiveness of new drugs. Therefore, the clinical trial should be controlled properly to protect the health of the subjects of clinical trial and to ensure that they exercise a right of self-determination. In this context, the fiduciary duties of doctors who conduct clinical trials is especially important. The Pharmaceutical Affairs Act and the relevant regulations define several duties of doctors who conduct clinical trials. In particular, the duty to protection of subjects and the duty to provide information constitute the main fiduciary duties to the subjects. Those are essentially similar to the fiduciary duties of doctors in usual treatment from the perspective of the values promoted by the law and the content of the law. Nonetheless, clinical trials put more emphasis on the duties to provide explanation than in usual treatment. Further research and study are required to establish the concrete standard for the duty of care. However, if the blind pursuit of higher standards for the duty of care or to pass the burden of proof to doctors may result in disrupting the development of clinical trials, limiting the accessibility of patients to new treatment and even violating the principle of sharing damage equally and properly. In addition to these duties, the laws of clinical trials define several duties of doctors. Any decision on whether the violation of the law constitutes the violation of the fiduciary duty and justifies the demand for compensation of damages should be based on whether relevant law aims to protect the safety and benefit of subjects, even if in an incidental way, the degree to which such violation breaches the values promoted by the law and the concrete of violation of benefit of law, the detailed acts of such violation. The legal interests of the subjects can be protected effectively by guaranteeing compliance with those duties and establishing judicial and administrative controls to ensure that the benefit of subjects are protected properly in individual cases.