A Single Nucleotide Deletion resulting in Frameshift in Two Korean Neonates with Thyroxine-Binding Globulin Deficiency

박상준,서진순,정민호,이희진,서병규,이원배,이병철 대한소아청소년과학회 2005 Clinical and Experimental Pediatrics (CEP) Vol.48 No.11

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low T4 levels that were noted on the neonatal screening test. They showed normal levels of free T4 and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency. 단일 뉴클레오타이드 결손으로 인한Frameshift 돌연변이로 규명된티록신결합글로불린 결핍증 1례가톨릭대학교 의과대학 소아과학교실박상준·서진순·정민호·이희진서병규·이원배·이병철TBG 결핍증은 X 염색체 장완의 TBG 유전자의 돌연변이에 의해서 발생하며, 낮은 총 T4와 총 T3, 정상 유리 T4와 유리 T3, 정상 TSH 농도를 특징으로 한다. 혈청 티록신글로불린 농도에 따라 완전 TBG 결핍증과 부분 TBG 결핍증으로 나눌 수 있으며, 적절하게 진단하지 못하면 불필요한 검사나 치료의 요인이 될 수 있다. 저자들의 완전 TBG 결핍증으로 진단된 2명의 남아에 대하여 TBG 유전자 분석을 시행하였다. 대상아들은 신생아 선별검사에서 측정된 낮은 총 T4 농도 때문에 내원하였다. 진찰 소견은 정상이었으며, 갑상선 기능 검사 상 유리 T4, TSH 농도는 정상이었다. 방사면역측정법에 의한 혈청 TBG는 측정되지 않았다. 중합효소연쇄반응을 이용하여 4개의 TBG 유전자 엑손을 증폭한 후 자동염기서열분석을 시행하였다. 두 대상아에서 모두 엑손 4의 352번째 codon의 첫 번째 단일 뉴클레오티드 C의 결손에 의한 frameshift 돌연변이로 374번째 codon에 termination codon이 나타난 것을 확인하였다. 대상아의 어머니들에게서는 돌연변이 대립유전자와 정상 대립유전자의 이형접합체를 확인하였다. 한국인 TBG 결핍증의 역학과 유전적 특성을 규명하기 위한 더 광범위한 연구가 필요할 것으로 생각된다.

통화정책과 기업 설비투자: 자산가격경로와 대차대조표경로 분석

박상준,육승환 한국은행 2018 經濟分析 Vol.24 No.4

In order to confirm whether the monetary policy affect corporate investment or not, this paper examines the validity of the asset price channel and the balance sheet channel among monetary policy transmission mechanisms. Unbalanced dynamic panel model based on system GMM method is employed and annual financial statements data of Korean firms from 2000 to 2016 are used. For estimating the asset price channel, Tobin’s q is used as the independent variable, and for estimating the balance sheet channel, the cross products of liquidity asset ratio and call rate difference or liquidity asset ratio and rate of increase in monetary base are used as interaction independent variables. In addition, debt ratio and operating profit ratio are included as the regressors. The dependent variable is investment ratio (the ratio of real investment amount to real tangible fixed asset amount). The empirical test results show that there is a statistically significant relation between investment at t and Tobin’s Q at t-1. Considering lowering policy rate possibly increase stock price, and then stock price has a positive relation with Tobin’s Q, the plus signal of Tobin’s Q means that the asset price channel of monetary policy functions statistically significant. The coefficient of liquidity asset ratio at the former period (t-1) is also estimated as plus – it means that there might be information asymmetry between firms and banks. Meanwhile, the coefficient of interaction term which is the cross product of liquidity asset ratio and call rate difference is estimated plus and the one which is the cross products of liquidity asset ratio and rate of increase in monetary base is estimated minus. This means that the impact of liquidity asset on investment gets weaker during the time of easing monetary policy; therefore, the balance sheet channel of monetary policy function is statistically significant. Model estimation by firm size distribution shows that the impacts of the asset price channel and the balance sheet channel are stronger in the smaller firms. Besides, the impact of operating profit on investment is estimated more powerful in the smaller firms rather than in the larger firms. On the contrary, only the debt ratio coefficient of top 50% sized-firm group shows statistically significant minus sign. This study has policy implications in the aspects of firms’ investment during the time of tightening monetary policy, and external fund premium for smaller firms. 저자 : 박상준(와세다대학교), 육승환(금융통화연구실) <요약> 본 연구는 통화정책이 기업의 설비투자에 미치는 파급경로를 불균형 동태적 패널모형으로 분석하였다. 2000~2016년 중 우리나라 기업의 재무제표 데이터(연간)를 이용하여 자산가격경로와 대차대조표경로의 유효성을 검증하였는데 이 과정에서 내생성 문제를 해결하기 위해 시스템 GMM 기법을 적용하였다. 분석 결과, t-1기의 토빈 q는 t기의 투자율과 유의적인 양의 관계를 갖는 것으로 나타났다. 정책금리의 인하가 주가 상승에 긍정적인 영향을 주고 주가 상승이 토빈 q와 양의 상관관계가 있는 점을 고려하면 유의적인 양의 값으로 추정된 토빈q의 계수는 자산가격 파급경로가 작동하고 있음을 의미한다. 전기 유동성자산의 계수도 양의 값을 갖는 것으로 추정되었다. 이는 은행과 기업 간에 정보의 비대칭성이 존재할 가능성을 시사한다. 한편, 유동성자산 비율과 콜금리 차분의 교차항은 양의 값을, 유동성자산과 본원통화 증가율의 교차항은 음의 값을 갖는 것으로 추정되었다. 이는 확장적 통화정책이 실시되고 있을 때에는 투자에 대한 유동성자산의 영향력이 감소하는 것을 의미하는 것으로, 대차대조표경로가 작동하고 있음을 뜻한다. 기업을 규모별로 분류하여 추정한 결과, 기업 규모가 작을수록 자산가격경로와 대차대조표경로가 더 뚜렷하게 작동하는 것으로 보인다. 한편 영업이익률의 투자에 미치는 영향력도 규모가 큰 기업보다는 규모가 작은 기업에서 더 큰 것으로 나타났다. 반면에 부채비율은 상위 50% 기업에서만 유의적인 음의 값을 갖는 것으로 추정되었다. 본 연구는 기업 단위의 분석을 통해 통화정책의 자산가격경로와 대차대조표경로가 작동하여, 통화정책이 기업의 투자결정에 영향을 미친다는 것을 실증적으로 확인한 데 의미가 있다. 또한 통화정책 기조 변화가 기업의 투자결정에 미치는 영향이 기업 규모별로 상이할 수 있음을 보인 것도 정책적 측면에서 시사하는 바가 있다.

운동이 백서 스테로이드 근병증에 미치는 효과

박상준,이민철,김세종,박상준,이민철,김세종 대한신경과학회 1999 대한신경과학회지 Vol.17 No.5

과학sf - 우주 엘리베이터와 우주 양로원

박상준,Park, Sang-Jun 한국과학기술단체총연합회 2002 과학과 기술 Vol.35 No.8

과학SF - 21세기의 화성탐사, "화성의 주인은 우리 지구의 인류"

박상준,Park, Sang-Jun 한국과학기술단체총연합회 2002 과학과 기술 Vol.35 No.3

구상흑연주철의 마감특성에 미치는 CE 및 냉각속도의 영향

박상준,김수영,권혁무 대한금속재료학회(대한금속학회) 1982 대한금속·재료학회지 Vol.20 No.3

Spheroidal graphite cast iron specimens of 2.5-5.8 carbon equivalent were casted into CO₂sand mold, 2-10㎜ thickness Y-block. Both, the microstructures and abrasion characteristics of the samples are studied. The results are as follows. 1) Even though the carbon equivalent is the same in the spheroidal graphite cast iron, the amounts of cementite and ferrite are different whenever the silicon and the carbon contents are different. 2) Under the present expermental conditions, the relationship between the abrasion speed and the abraded amount are: 0.5 m/sec for abrasive wear, 1 m/sec for corrosive wear and 4 m/sec for adhesive wear. 3) The amount of abraded material during corrosion wear increases as the cooling rate decreases for the same carbon equivalent and increases as the carbon equivalent. 4) The amount of abraded material during adhesive wear increase with the decreasing carbon equivalent and with the faster cooling rates for castings of 2-4㎜ in thickness.

2022 개정 사회과 교육과정의 개발 과정 및 특징 분석: 초등학교 일반사회 영역을 중심으로

박상준,이경윤 한국사회과교육연구학회 2023 사회과교육 Vol.62 No.4

The purpose of this study is to analyze the development process and characteristics of the 2022 social studies national curriculum for elementary school, focusing on the social sciences area and to explore future tasks. As a result of reviewing the development process of the 2022 revised social studies curriculum, the main issues are as follows. First, it was an problem of excessive learning content and quantity. Second, it was the realization of teaching and learning methods that can be realized in the school field. Third, it was an issue about close connection between social studies’learning contents and students’life. Fourth, it is a matter of reflecting the opinions presented at the public hearing. The characteristics of the 2022 revised social studies curriculum developed by reflecting these matters are as follows. First, it was intended to optimize the amount of learning by reducing the number of achievement standards. The number of achievement standards was reduced, and learning elements that were judged to be difficult for overlapping content or elementary school students' cognitive level were deleted. The second was the simplification of the content structure. In order to increase the freedom of textbook authors to write and the autonomy of teachers to reorganize the curriculum, the content strcuture was roughly stated. Third, it is the strengthening of democratic citizenship education. The contents of democratic citizenship education were newly established or added. Fourth, it is the strengthening of media literacy education. The content of developing the ability to critically analyze and utilize media by reflecting the needs of the digital society was newly established in the 5th to 6th grade curriculum. Fifth, it was the strengthening of labor human rights education. Reflecting the social demand to guarantee workers' basic rights, a new content to explore workers' rights was added to the 5th to 6th grade curriculum. Sixth, it is the reinforcement of student-led inquiry. Student-led inquiry was reinforced by reflecting the flow of future education. Seventh, it is the reinforcement of practice and participation in connection with the life of students. The connection between social studies knowledge and student life was strengthened to understand the main concepts or principles in the cases of daily life experienced by students.

초등학교 법 교육과정의 실태 분석 및 과제

박상준 한국법과인권교육학회 2017 한국법과인권교육학회 학술대회 Vol.2017 No.05

폭발머리증후군

박상준,김수현,박기형,성영희,이영배,박현미,신동진 대한신경과학회 2009 대한신경과학회지 Vol.27 No.2

Exploding head syndrome (EHS) is characterized by a sudden loud imagined noise or sense of a violent explosion in the head occurring as the patient is falling asleep or waking during the night. EHS is classified as “other parasomnia” on the ICSD-2 (International Classification of Sleep Disorders), and the neurophysiologic mechanisms underlying this hypnagogic phenomenon are unknown. EHS is a rare type of other parasomnia that has not been reported in Korea. We report two cases of EHS that presented with typical clinical symptoms. Exploding head syndrome (EHS) is characterized by a sudden loud imagined noise or sense of a violent explosion in the head occurring as the patient is falling asleep or waking during the night. EHS is classified as “other parasomnia” on the ICSD-2 (International Classification of Sleep Disorders), and the neurophysiologic mechanisms underlying this hypnagogic phenomenon are unknown. EHS is a rare type of other parasomnia that has not been reported in Korea. We report two cases of EHS that presented with typical clinical symptoms.

東南 아시아를 돌아보고…

朴尙駿 한국마케팅연구원 1978 마케팅 Vol.12 No.5