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Identification of Compound Heterozygous Alleles in a Patient with Autosomal Recessive Limb-Girdle Muscular Dystrophy (상염색체 열성 지대형 근이영양증 환자로부터 TTN 유전자의 복합 이형접합성 대립유전자의 분리)

  • Choi, Hee Ji;Lee, Soo Bin;Kwon, Hye Mi;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
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    • v.31 no.10
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    • pp.913-921
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    • 2021
  • Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

Research on the Re-organization of the Administration of Labor's Records in the custody of the National Archives (노동청 기록의 재조직에 관한 연구 - 국가기록원 소장 기록을 중심으로 -)

  • Kwak, Kun-Hong
    • The Korean Journal of Archival Studies
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    • no.23
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    • pp.141-178
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    • 2010
  • The Administration of Labor was responsible for the technical and practical functions like policy-making of labor matters and implementing the relevant laws. However, there has been a few record transferred to the National Archives to help find out the labor policy-making process. This is one of the typical examples that shows the discontinuity and unbalance, and disorderly filing of the administrative records in Korea. Naturally it is almost impossible to retrieve the appropriate content through the records file-name. Users should be at the trouble to compare the record items and their content one by one. For the re-organization of the Administration of Labor' records, this research suggests the four-level analysis of functions of the Administration. The Administration of Labor' survived records could be linked to each level function. And the publication of the 'Records Abstract Catalog' providing users with more information about the records would pave the way for easier access to the records. In addition, it also suggests the logical re-filing of the survived records of which we cannot find the order or sequence. This re-organization of the survived records would help to establish the acquisition and appraisal policy of the labor records as well as the new way of description and finding tool hereafter. Drawing up labor history map is a starting point for the acquisition strategy of the labor records, which could allow users to gain systematic access on the survived records. Of course, extensive investigation and research on the survived records is a prerequisite for the map. It would be required to research on the survived records of the other government agencies, including economic-social area ministries and investigation agencies and the National Assembly as well. It is also needed to arrange and typify the significant incidents and activities on thematic and periodic frames in the labor history. If possible to understand or connect the survived records and these accomplishments comprehensively, it would be of great help for the acquisition of the labor records and the related oral records projects.

Vietnam in 2016: The Situations and Prospects of Politics, Economy, and International Relations (베트남 2016: 정치, 경제, 대외관계의 현황과 전망)

  • LEE, Han Woo;CHAE, Su Hong
    • The Southeast Asian review
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    • v.27 no.1
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    • pp.163-191
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    • 2017
  • This article aims to review the recent, especially focusing on the year of 2016, situations and prospects of the Vietnamese politics, economy, and international relations. Politically, Vietnam completed the election of members for the National Assembly and organized new leadership at the 12th National Congress of the Vietnamese Communist Party in 2016. One characteristic of the new leadership is that the politicians, especially the members of politburo, from the North continue to occupy the position of majority. The other one is that the new leadership promised to carry out the restructuring of economy toward industries producing higher value-added commodities even though Vietnam industries admittedly need to accelerate present industrialization and modernization as a developing country under the seemingly contradictory slogan of "the development of market economy for socialism." The declared goals of the new leadership in Vietnam are inevitable in a sense since the development of Vietnamese economy has been heavily dependent upon Foreign Direct Investment(FDI) taking advantage of Vietnamese cheap labor and simultaneously it is evident that its future is unsecure if it maintains status quo. In fact, the Vietnamese economy has impressively showed high growth rate by the help of foreign capitals since 1990s despite the repetitive recessions of global economy but its growth is not likely to be sustainable anymore if it will not reduce foreign dependency and social economic inequality in a long term. In a short run, global economic recession, the financial and monetary policies of global powers, and recent protectionism and uncertainty of trade agreements will be three crucial variables to affect Vietnamese economy. In terms of international relations, Vietnam is continuously expected to practise the policy of checks and balances among the powerful countries. Vietnam has seriously disputed with China on islands sovereignty in the South China Sea and attempted to maintain close relationship with other powerful countries including especially America. However, mainly due to the new protectionism by the regime of American president Donald Trump, the Vietnamese government also need to keep close relationship with China increasingly for both economic and diplomatic security. Under the circumstances, Vietnam is expected to maintain more practical and balanced international relations.

The Historical Changes of Seonjam·Chinjam Ritual and Music in the Joseon Dynasty (조선시대 선잠·친잠의례와 음악의 역사적 변천)

  • Song, Ji-Won
    • (The) Research of the performance art and culture
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    • no.39
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    • pp.509-547
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    • 2019
  • The cocoon breeding related national ritual ceremony exercised from the beginning time of Joseon is the 'clothing culture' that has taken its role in the ritual ceremony where it demonstrates the resolution of a state that placed importance in 'things to wear'. During the reign of King Seongjong, it enhanced the level of importance by adding the 'procedure to pick up the mulberry leaved by the queen personally'. During the reign of King Youngjo, the implication of the ritual ceremony was even more expanded that there was an new emergence of new type of national ceremony for the Joseon Era with its first ritual ceremony for woman to personally administer the memorial ceremony to the 'woman divinity' in addition to the 'Jakheonrye' procedure to personally present by the queen for the cocoon breeding. This is intended to meet the status of chingyeonguirye (farming-friendly ceremony) with King Youngjo to personally cultivate the dry field after administering Seonnongje (good harvest paying ceremony) that it is conspicuously demonstrating the importance of farming and cocoon breeding activities. As a result, the Chinjam (a type of ceremony that queen personally breeds cocoon for fabrics) related ceremonial rite that was rearranged during the reign of King Youngjo was settled into 11 ceremonial rites with the expansion of its contents. It ranges from the procedure to leave the palace for carrying out the ritual ceremony to the procedure for the crown princess and Hyebin-gung to accompany the queen, ritual for the queen to devote the Jakheonrye to exercise Chinjam, the ritual for the king to announce his royal message, johyeonui (morning assembly) exercised after completing Chinjam, it is the ritual for the queen to receive the box that contained the cocoon. This type of ritual ceremony is a significant expansion when compared with the exercise carried out earlier and it is part of characteristics displayed for ritual overhaul trend in the reign of King Youngjo. In the main procedures of these ceremonial rites, the music is accompanied and the music includes folk music, inspiration and so forth. The Chinjam related ritual ceremony in the reign of King Youngjo was established in the direction to establish it as the ritual ceremony for a woman who had the divine role of the seonjamje ritual to administer the ritual in a way of having the justification and reality to be consistent.

A Review of the Systemic Analysis Method on Dental Sedation for Children (소아 치과환자에 대한 진정법의 체계적 분석 방법 고찰)

  • An, Soyoun;Lee, Jewoo;Kim, Seungoh;Kim, Jongbin
    • Journal of the korean academy of Pediatric Dentistry
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    • v.42 no.4
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    • pp.331-339
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    • 2015
  • The first priority of sedation for incorporative children in pediatric dentistry is a safety. Therefore, evidence-based practices in health care are needed for preventing medical accidents. In accordance with the rise of the evidence based medicine, the interest in Evidence-Based Dentistry is increasing in the field of dentistry. However, systematic research about Evidence-Based sedation in Korea has rarely been done. As such, the purpose of this systematic review is to critically analyze the available scientific literature regarding dental sedation and to seek the next developmental strategies about evidence based pediatric dental sedation. A broad search of the 5 databases of the systematic reviews manual of the National Evidence-based Healthcare Collaborating Agency in Korea were referenced: 1) Core search database- KMbase, KISS; 2) Academic information and portal; 3) the National Assembly Library; 4) DBpia, and 5) RISS. Of a total 470 themes limited to the search term of "dental sedation", in accordance with the PRISMA statement for reporting systematic reviews of health sciences interventions, a literature selection process, which includes the removal of overlapping down the flow chart, was performed. Of the remaining 31 articles, two authors read through articles independently and added or removed articles using the exclusion criteria. Finally, twenty published papers of acceptable quality were identified and reviewed. This systemic review of Korean pediatric dental sedation practices for the last twenty-five years was based on the objective criteria defined in the GRADE process and identified consistent evidence. The results were evidence of moderate quality. Therefore, more systemically well-designed clinical studies are needed about the safe use of a sedative medicines (drugs).

A Study on the Effective Guarantee of the Right to Portability of Personal Health Information (개인건강정보 이동권의 실효적 보장에 관한 연구)

  • Kim, Kang Han;Lee, Jung Hyun
    • The Korean Society of Law and Medicine
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    • v.24 no.2
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    • pp.35-77
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    • 2023
  • As the amendment to the Personal Information Protection Act, which newly established the basis for the right to request transmission of personal information, was promulgated through the plenary session of the National Assembly, MyData, which was previously applied only to the financial sector, could spread to all fields. The right to request transmission of personal information is the right of the information subject to be guaranteed for the realization of MyData. However, since the right to request transmission of personal information stipulated in the Personal Information Protection Act is designed to be applied to all fields, not a special field such as the medical field, it has many shortcomings to act as a core basis for implementing MyData in Medicine. Based on this awareness of the problem, this paper compares and analyzes major legal trends related to the right to portability of personal health information at home and abroad, and examines the limitations of Korea's Personal Information Protection Act and Medical Act in realizing Medical MyData. Under the Personal Information Protection Act, the right to request transmission of personal information is insufficient to apply to the medical field, such as the scope of information to be transmitted, the transmission method, and the scope of the person obligated to perform the transmission, etc.. Regulations on the right to access medical information and transmission of medical records under the Medical Act also have limitations in implementing the full function of Medical My Data in that the target information and the leading institution are very limited. In order to overcome these limitations, this paper prepared a separate and independent special law to regulate matters related to the use and protection of personal health information as a measure to improve the legal system that can effectively guarantee the right to portability of personal health information, taking into account the specificity of the medical field. It was proposed to specifically regulate the contents of the movement and transmission system of personal health information.

An Investigative Study on Middle School Students, Parents and Industrial Institutions for the Establishment of Vocational High Schools in Asan Area (아산지역 특성화고 설치에 대한 중학교 학생, 학부모, 산업체의 요구 조사 연구)

  • Lee, Byung-Wook;Ahn, Jae-Young;Lee, Chan-Ju;Lee, Sang-Hyun
    • 대한공업교육학회지
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    • v.39 no.1
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    • pp.1-22
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    • 2014
  • The purpose of this research are to investigate and analyze requests of middle school students, parents and people in charge of human resources of industrial institutions and to suggest implications which are necessary to establish vocational high schools in Asan area. To achieve them, demands, for the establishment of vocational high schools, requests of desirable department, area, etc. which are recognized by middle school students, parents and people in charge of human resources of industrial institutions in Asan-si were surveyed and analyzed. The subjects of the survey were students and parents who were selected from one third grade class out of each of all the middle schools of Ansan-si. Also, for the people in charge of human resources of industrial institutions, industrial institutions including more than 10 employees were firstly sampled and selected. The number of students analyzed is 484, parents 458, industrial institutions 81, the results are as follows. First, among the third graders, there were 18.5% students who wanted to enter vocational high schools and 72.6% students that replied saying they may enter if vocational schools are established in Asan-si. Among them, 8.8% students replied that they will definitely enter. Second, among the parents, 30.8% wanted their children to enter vocational high schools and 76.9% replied that they may enter if vocational high schools are established in Asan-si. Among them, 8.4% replied that their children will enter certainly. Third, people in charge of human resources of industrial institutions replied that they may recruit 98.8 percent of graduates of vocational high schools in Asan area. Among them, they replied that 17.3% will be recruited certainly. For the replies of recruitment time, there were 49.4% of 'within 1 year', 30.9% of 'within 1~5 years' and for working, there were 60.8% of 'mechanical operators and assembly workers' and 31.6% of 'technicians and functional workers'. Fourth, for the most preferred departments when establishing vocational high schools in Asan-si, middle school students wanted hospitality management, parents were for electricity and electronics, industrial institutions replied with vehicle mechanics. By affiliation, more than the half of respondents wanted industrial affiliation. Fifth, for the most preferred departments when establishing vocational high schools in Asan-si, middle school students and parents preferred Onyang-dong, industrial institutions preferred Dunpo-myeon. Results showed that the most desirable areas were in the vicinity of one's own residential area.

The Government Organization Act and the Desirable Government Structure in the 21st Century (21세기 바람직한 정부조직과 정부조직법)

  • Sung, Nak-In
    • Journal of Legislation Research
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    • no.44
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    • pp.241-281
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    • 2013
  • First and foremost, a discussion concerning government structure has to be done in connection with the state form and the governmental form. For practical reasons, there is a need to balance the principle of legality and its exceptions under the Government Organization Act. To ensure the flexibility of government structure with respect to the principle of legality, the National Assembly should accept the government structure requested by the newly elected government. This mitigates the rigidity of the principle of the legality within the government organizations. However, excessive changes by each government could violate the principle of legality asked by Constitution. In this sense, arbitrary modification with respect to the government structure by the newly elected government is not desirable. The long term stability of the government organization is required in any case. Secondly, general administrative agencies, other than Executive Ministries, should not be established under the direct order of the President without the control of the Prime Minister. A hierarchy of the executive branch (President->Prime Minister-> Executive Ministries) is stipulated in the Constitution. Establishing a hierarchy of President -> executive institution should be considered unconstitutional. Therefore, only the Presidential Secretariat and institutions with special functions can be established in the Presidential Office. Establishing general administrative agencies in the Presidential Office for convenience purposes is against the spirit of the current Constitution. Consequently, only the office of staffs and special agencies can be placed in the presidential office. It is against the spirit of the current Constitution to found administrative agencies under the presidential office for convenience. Thirdly, the office of the Prime Minister should be the backbone of internal affairs. In that sense, the President, as the head of state, should focus on the big picture such as the direction of the State, while the Cabinet headed by the Prime Minister should be responsible for the daily affairs of the State. The cabinet surrounding the Prime Minister must control all the ordinary affairs of the State, while the President, as the head of the State, should focus on the big picture of blueprinting the aim of the State. Lastly, the Office of the Prime Minister and Executive Ministries are the two main bodies of the executive branch. It is important to reduce the confusion caused by repeated changes in the names of Executive Ministries, to restore the traditional names and authorities of these institutions, and to rehabilitate the legitimacy of the State. For the Korean democracy to take its roots, a systematic way of stabilizing a law-governed democratic country is needed. There is also the need not only to reform security and economic agencies, but also to rationally solve the integration of technique and policy, according to the changes of time.

Application and Expansion of the Harm Principle to the Restrictions of Liberty in the COVID-19 Public Health Crisis: Focusing on the Revised Bill of the March 2020 「Infectious Disease Control and Prevention Act」 (코로나19 공중보건 위기 상황에서의 자유권 제한에 대한 '해악의 원리'의 적용과 확장 - 2020년 3월 개정 「감염병의 예방 및 관리에 관한 법률」을 중심으로 -)

  • You, Kihoon;Kim, Dokyun;Kim, Ock-Joo
    • The Korean Society of Law and Medicine
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    • v.21 no.2
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    • pp.105-162
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    • 2020
  • In the pandemic of infectious disease, restrictions of individual liberty have been justified in the name of public health and public interest. In March 2020, the National Assembly of the Republic of Korea passed the revised bill of the 「Infectious Disease Control and Prevention Act.」 The revised bill newly established the legal basis for forced testing and disclosure of the information of confirmed cases, and also raised the penalties for violation of self-isolation and treatment refusal. This paper examines whether and how these individual liberty limiting clauses be justified, and if so on what ethical and philosophical grounds. The authors propose the theories of the philosophy of law related to the justifiability of liberty-limiting measures by the state and conceptualized the dual-aspect of applying the liberty-limiting principle to the infected patient. In COVID-19 pandemic crisis, the infected person became the 'Patient as Victim and Vector (PVV)' that posits itself on the overlapping area of 'harm to self' and 'harm to others.' In order to apply the liberty-limiting principle proposed by Joel Feinberg to a pandemic with uncertainties, it is necessary to extend the harm principle from 'harm' to 'risk'. Under the crisis with many uncertainties like COVID-19 pandemic, this shift from 'harm' to 'risk' justifies the state's preemptive limitation on individual liberty based on the precautionary principle. This, at the same time, raises concerns of overcriminalization, i.e., too much limitation of individual liberty without sufficient grounds. In this article, we aim to propose principles regarding how to balance between the precautionary principle for preemptive restrictions of liberty and the concerns of overcriminalization. Public health crisis such as the COVID-19 pandemic requires a population approach where the 'population' rather than an 'individual' works as a unit of analysis. We propose the second expansion of the harm principle to be applied to 'population' in order to deal with the public interest and public health. The new concept 'risk to population,' derived from the two arguments stated above, should be introduced to explain the public health crisis like COVID-19 pandemic. We theorize 'the extended harm principle' to include the 'risk to population' as a third liberty-limiting principle following 'harm to others' and 'harm to self.' Lastly, we examine whether the restriction of liberty of the revised 「Infectious Disease Control and Prevention Act」 can be justified under the extended harm principle. First, we conclude that forced isolation of the infected patient could be justified in a pandemic situation by satisfying the 'risk to the population.' Secondly, the forced examination of COVID-19 does not violate the extended harm principle either, based on the high infectivity of asymptomatic infected people to others. Thirdly, however, the provision of forced treatment can not be justified, not only under the traditional harm principle but also under the extended harm principle. Therefore it is necessary to include additional clauses in the provision in order to justify the punishment of treatment refusal even in a pandemic.

The Main Contents and Task in Future for the Air Transport Law Established Newly in the Korean Revised Commercial Law

  • Kim, Doo-Hwan
    • The Korean Journal of Air & Space Law and Policy
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    • v.27 no.1
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    • pp.75-101
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    • 2012
  • As the Reublic of Korea revised the Commercial Code including 40 articles of air transport enacted newly on May 23, 2011, so Korea became first legislative examples in the Commercial Code of the developed and developing countries. I would like to explain briefly the main contents of my paper such as (1) history of enacting newly Part VI (air transport) in the Korea's revised commercial law, (2) legal background enacting newly Part VI (air transport) in the Korea's revised commercial law and the problems on the conditions of air transport, (3) every countries' legislative examples on the civil liability of aircraft's operator, (4) unlawful Interference Convention and general risk convention of 2009, (5) main contents and prospects of the revised Commercial Code for the liability of aircraft's operator etc as the followings. Meanwhile as the Aviation Act, Commercial Code and Civil Code in Korea and Japan did not regulated at all the legal basis of solution on the disputes between victims and offender for the amount of compensation for damage due to personal or property damage caused by aircraft accidents in Korea and Japan, so it has been raised many legal problems such as protection of victims, standard of decision in trial in the event of aircraft accident's lawsuit case. But the Korean Revised Commercial Code including Part VI, air transport regulations was passed by the majority resolution of the Korean National Assembly on April 29, 2011 and then the South Korean government proclaimed it on May 23 same year. The Revised Commercial Code enforced into tothe territory of the South Korea from November 24, 2011 after six month of the proclaimed date by the Korean Government. Thus, though Korean Commercial Code regulated concretely and respectively the legal relations on the liability of compensation for damage in the contract of transport by land in it's Part II (commercial activities) and in the contract of transport by sea in its Part V (marine commerce), but the Amended Commercial Act regulated newly 40 articles in it's Part VI (air transport) relating to the air carrier's contract liability on the compensation for damage caused by aircraft accidents in the air passengers and goods transport and aircraft operator's tort liability on compensation for damage caused by the sudden falling or collision of aircraft to third parties on the surface and so it was equipped with reasonable and unified system among the transport by land, marine and air. The ICAO adopted two new air law conventions setting out international compensation and liability rules for damage caused by aircraft to third parties at a diplomatic conference hosted by it from April 20 to May 2, 2009. The fight against the effects of terrorism and the improvement of the status of victims in the event of damage to third parties that may result either from acts of unlawful interference involving aircraft or caused by ordinary operation of aircraft, forms the cornerstone of the two conventions. One legal instrument adopted by the Conference is "the Convention on Compensation for Damage to Third Parties, Resulting from Acts of Unlawful Interference Involving Aircraft" (Unlawful Interference Convention). The other instrument, "the Convention on Compensation for Damage Caused by Aircraft to Third Parties" (General Risk Convention), modernizes the current legal framework provided for under the 1952 Rome Convention and related Protocol of 1978. It is desirable for us to ratify quickly the abovementioned two conventions such as Unlawful Interference Convention and General Risk Convention in order to settle reasonably and justly as well as the protection of the South Korean peoples.

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