Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

Elif Keleş Gülnerman,Nurcan Hanedan,Merve Akillioglu,Gülsüm Kayhan,Esra Adişen,Özlem Erdem,İbrahim Murat Hirfanoğlu,Ebru Ergenekon,Eray Esra Önal,Canan Türkyilmaz,Esin Koç 대한피부과학회 2023 Annals of Dermatology Vol.35 No.-

Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as col- lodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome se- quencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozy- gous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.

중대산업사고 예방을 위한 종합위험관리체제(IRMS) 구축에 관한 연구

권혁면,성대현,김재현,임대식,김기영,편무욱,문일,고재욱,이영순,윤인섭 한국안전학회 2003 한국안전학회지 Vol.18 No.3

The Process Safety Management (PSM) by the Law of Industry, Safety and Health has been performed for preventing major accidents of chemical plants since 1996. In terms of preventing chemical accidents more precisely, it is essential to develop a tool for quantitative risk assessment. For this, KOSHA (Korea Occupational Safety and Health Agency) developed an Integrated Risk Management System (IRMS) . The system is designed to assimilate data on chemical plant hazards from external database, to integrate these data with location information (topographic and demographic), and to make them user-friendly accessible. The system consists of several main functions: display of five major Korean petrochemical complex layout, display of equipment layout with its information utilizing the external database, zonation of the hazard effected area with consequence analyses, the most probable accident scenario generation, accident/incident database and calculation of frequency of accident using equipment reliability database, etc. The highlight of IRMS is to provide the risk contours using GIS(Geographical Information System) technology. IRMS is intended to manage hazardous installation more systematically and effectively, to reduce the number of accident remarkably, further minimizing production loss in the plant. The system is now under application to about 500 PSM sites as well as and emergency authorities in Korea by KOSHA (Korea Occupational Safety and Health Agency)

Osteoporosis in Men and Women: The Current Perspectives on Prevention and Treatment

Ko-En Huang 대한골다공증학회 2009 Osteoporosis and Sarcopenia Vol.7 No.2

Osteoporosis, which has been defined by WHO as low bone mineral density(BMD) as that T-score are 2.5 standard deviations(SD) or more below the young-adults, is one of the major health problems particularly among the older men and postmenopausal women. WHO has defined osteoporosis using BMD of postmenopausal Caucasian women as T≤-2.5. It is recommended that BMD measurement is not for routine screening, but for those indicated. Maximum peak bone mass is an important factor for bone health and is mostly genetically determined. Nevertheless, sex hormone, particularly E-2, is important in peak bone mass acquisition and age related bone loss. Hormone therapy can increase BMD and reduce fracture risk in hypogonadal men and women. Constitutionally, men have greater peak bone mass and larger bone than women. In addition, hormone decline rapidly with menopause and gradually with andropause. Thus, aging bone loss accelerates earlier in women(50 y/o) than in men(70 y/o) and more osteoporosis in women than in men. These result in more osteoporotic hip fracture in women, but higher post-fracture mortality in men. The North American Menopause Society(NAMS) has developed guidelines recommending that drug therapy should be considered in: 1) All postmenopausal women who have had an osteoporotic vertebral fracture. 2) All postmenopausal women with BMD values consistent with osteoporosis(i.e., T-score ≤-2.5). 3) All postmenopausal women with T-score from -2.0 to -2.5 plus low body weight, history of fragility fracture since menopause, or a history of hip fracture in a parent. Further, it has been agreed that there is no definitive information for determining which drug for which patient to use. The decision of which drug to use should be made individually for each patient based on those information, such as, risk vs benefit, compliance, patient preference, and may be insurance coverage.

치매 예방 프로그램 현황 및 분석 -주요 5개 도시 중심으로-

고현익,이수빈,이자연,이채은,이혜연,조은영,최하은,정현애,Ko, Hyun-Ik,Lee, Su-Bin,Lee, Ja-Yeon,Lee, Che-En,lee, Hye-Yeon,Cho, En-Yong,Choi, Ha-En,Chung, Hyun-Ae 대한고유수용성신경근촉진법학회 2017 PNF and Movement Vol.15 No.2

Purpose: The purpose of this study was to compare the status of the dementia prevention programs, dementia support centers, and elderly welfare centers in major metropolitan cities to acquire data for future program development and dissemination and the specialization of dementia prevention personnel. Methods: Data were gathered through internet surveys and telephone questionnaires from 15 special demented elderly care centers and elderly welfare centers registered in five metropolitan cities from June 27 to Oct 25, 2016. Results: Dementia care programs were available at 15 centers. Seoul City was running the most diverse dementia programs, and all five cities were spending a significant amount of time on the cognitive therapy program within several dementia programs. In addition, many social workers hosted the program and the frequency of social welfare work was three times a week. Conclusion: To increase the dementia prevention policies' efficiency, an understanding of dementia has already been established. Experts who can provide client-centered, problem-solving programs will play the role of physical therapists and occupational therapists. However, more research is needed.

Review Article : Intrathecal Administration of Mesenchymal Stem Cells Reduces the Reactive Oxygen Species and Pain Behavior in Neuropathic Rats

( En Ji Zhang ),( Chang Hwa Song ),( Young Kwon Ko ),( Won Hyung Lee ) 대한통증학회 2014 The Korean Journal of Pain Vol.27 No.3

Background: Neuropathic pain induced by spinal or peripheral nerve injury is very resistant to common pain killers, nerve block, and other pain management approaches. Recently, several studies using stem cells suggested a new way to control the neuropatic pain. In this study, we used the spinal nerve L5 ligation (SNL) model to investigate whether intrathecal rat mesenchymal stem cells (rMSCs) were able to decrease pain behavior, as well as the relationship between rMSCs and reactive oxygen species (ROS). Methods: Neuropathic pain of the left hind paw was induced by unilateral SNL in Sprague-Dawley rats (n = 10 in each group). Mechanical sensitivity was assessed using Von Frey filaments at 3, 7, 10, 12, 14, 17, and 24 days post-ligation. rMSCs (10 μl, 1 × 105) or phosphate buffer saline (PBS, 10 μl) was injected intrathecally at 7 days post-ligation. Dihydroethidium (DHE), an oxidative fluorescent dye, was used to detect ROS at 24 days post-ligation. Results: Tight ligation of the L5 spinal nerve induced allodynia in the left hind paw after 3 days post-ligation. ROS expression was increased significantly (P < 0.05) in spinal dorsal horn of L5. Intrathecal rMSCs significantly (P < 0.01) alleviated the allodynia at 10 days after intrathecal injection (17 days post-ligation). Intrathecal rMSCs administration significantly (P < 0.05) reduced ROS expression in the spinal dorsal horn. Conclusions: These results suggest that rMSCs may modulate neuropathic pain generation through ROS expression after spinal nerve ligation.

동시 수렴법을 이용한 정상상태 이득의 효율적인 계산

고재욱,윤인섭 한국화학공학회 1989 Korean Chemical Engineering Research(HWAHAK KONGHA Vol.27 No.2

동시 수렴법 (simultaneous solution method)에 의한 공정모사를 이용하여 공정제어 구조 합성의 핵심적인 수치인 정상상태 이득을 합리적으로 구하는 방법을 제시하였다. 공정 설계조건을 만족하는 해를 구한 후, 해를 구하는 과정에서 계산된 역 Jacobian 행렬의 부분 행렬로부터 정확한 정상상태 이득을 구할 수 있었으며, 이를 이용한 방법이 많은 반복 계산을 통하여 정상상태 이득을 구하는 기존의 단계적 계산방법보다 효율적임을 알 수 있었다. 간단한 이성분계 증류탑에 이 방법을 적용하여 유용성을 알아보았으며 탄상농도와 탑저농도에 따른 가능한 제어 구조를 조사하였다. A powerful technique using the simultaneous solution method is proposed to calculate the steady state gain which is quite essential to the synthesis of process control structure. After calculation of the solution of variables in process design, the steady state gain can be calculated accurately from the partial matrix of the inverse Jacobian matrix which is available for the solution. This technique is more efficient than the technique employing the conventional sequential modular approach which requires repetitive calculations to obtain the steady state gain. This method was applied to a typical binary distillation column to illustrate its usefulness in finding the feasible control structures for the top and bottom concentration control.

Multifunctional Magneto-optical Nanoclusters for High Sensitivity Rotavirus Detection

Hong En Fu,Thomas Myeongseok Koo,Myeongsoo Kim,Min Jun Ko,Bum Chul Park,KyuHa Oh,Young Keun Kim 한국자기학회 2022 한국자기학회 학술연구발표회 논문개요집 Vol.31 No.2

온도보상 기법을 적용한 디지털 방식의 사전 왜곡제거기 알고리듬

고영은,방성일,Ko, Young-En,Bang, Sung-Il 대한전자공학회 2005 電子工學會論文誌-TC (Telecommunications) Vol.42 No.9

본 논문에서는 디지털 방식으로 온도에 의한 왜곡을 보상할 수 있는 사전왜곡제거기 알고리듬을 제안하였다. 사전왜곡제거 알고리듬은 입력레벨에 따른 시스템 비선형 왜곡뿐만 아니라 온도에 따른 왜곡의 보상성분을 산출하여 베이스밴드 영역의 디지털 신호를 사전 왜곡함으로써 발생하는 왜곡을 상쇄시키는 알고리듬이다. 이와 같은 알고리듬의 우수성을 증명하기 위해 Saleh의 고출력 증폭기 모델에 적용하여 컴퓨터 모의실험을 한 결과, 기존의 A&P PD 방식보다 P1dB는 약 0.5dBm 증가하였고, 위상천이는 약 $0.8^{o}$ 감소하였으며, 온도보상 기법을 적용한 사전왜곡제거기 로 증폭기의 PldB를 약 2dBm 개선하였고, 위상천이는 약$0.1^{o}$ 이하로 안정시켰다. 또한 이 증폭기에 UMTS 신호 샘플을 인가 시 온도보상 기법을 적용한 사전왜곡 제거기의 IMD3가 온도보상 기법을 적용하지 않은 경우보다 10dBm 감소하였으며, 왜곡제거기가 없는 신호보다 19dBm 감소시킴으로써 우수한 선형성을 보였다. In this paper, we proposed predistortion algerian that can compensate temperature distortion by digital. Predistortion algorithm produces compensation value of distortion by temperature as well as system nonlinear distortion by input level, and warps beforehand signal of baseband. To prove excellency of such algorithm we applied predistortion algorithm to Saleh's high power amplifier model, and did computer simulation. As a result, P1dB increased about 0.5 dBm phase shift reduced about $0.8^{o}$ than existent the A&P PD, and predistiortion algorithm to apply temperature compensation techniques improved P1dB about 2dBm and stabilized phase shift by about $0.1^{o}$ low. When approved UMTS's sample signal to this amplifier, IMD3 of amplifier decreased 10dBm than is no temperature compensation techniques, and reduced 19dBm than signal that is no distortion.

In Korean Women, High Plasma Level of Enterolactone Reduces Risk of Type 2 Diabetes and This Effect is Enhanced in Equol-Producers

Kwang-Pil Ko,En-Joo Jung,Younjhin Ahn,Seon-Joo Park,Young-Khi Lim 건강기능식품미래포럼 2022 건강기능식품미래포럼 학술지 Vol.2 No.4

Diabetes, if left untreated, can cause many health complications. Type 2 diabetes is known to be primarily due to lifestyle and thus, efforts have been made to reduce its risk by diet particularly of vegetables containing various antioxidants. In the present study, this possibility was investigated by examining association between the plasma level of enterolactone, a metabolite of food lignans and the risk of type 2 diabetes and the association was compared between producers and non-producers of equol, a metabolite of soy isoflavone. The study population was composed of 693 cases and 698 matched controls within the Korean Genome Epidemiology Study. Logistic regression models were used to compute the odds ratio (OR) and 95% confidence intervals (CI). Stratified analysis was done to examine the association between plasma enterolactone concentration and risk of type 2 diabetes, and then, this association was examined in terms of sex and status of equol producing ability. In female, compared with the reference level, a marginally significant risk reduction was found at the highest concentration of enterolactone (for the highest category: OR, 0.68; 95% CI, 0.46–1.01). In equol producers among women, the highest concentration of enterolactone significantly decreased the risk of type 2 diabetes (OR, 0.58; 95% CI, 0.34–0.96). In equol non-producers among women, however, the concentration of enterolactone was not associated with the risk of type 2 diabetes. In male, enterolactone concentration was not associated with risk of type 2 diabetes regardless of equol producing status. In conclusion, high plasma concentrations of enterolactone were associated with a decreased risk of type 2 diabetes particularly, in equol producing female.

창업지원정책이 창업성과에 미치는 영향

고준빈(Junbin Ko),박윤상(Yunsang Park),김은주(En-Ju Kim) 한중경제문화학회 2024 한중경제문화연구 Vol.26 No.-

한 나라의 경제성장과 개인의 생활에 지대한 영향을 미치는 창업의 경우 그 중요성은 오랫동안 학문적으로나 실증적으로 증명되었음에도 아직까지 대한민국에서의 창업은 개인의 아이디어로 개인의 자금으로 홀로 시행하는 경우가 절대다수임을 알 수 있다. 이런 과정에서 개인은 창업에 대한 막연한 두려움을 갖게 되고, 경험 미숙으로 인한 실패의 두려움을 갖게 된다. 본 연구에서는 정부의 창업지원정책이 창업성과에 미치는 영향관계를 조사하고자 하였다. 이를 통해 창업지원정책이 창업자가 실감하는 창업성과에 어느정도 미치는 영향의 정도에 대해 조사할 수 있을 것으로 판단한다. 연구결과 창업지원정책은 창업성과에 큰 영향을 미치는 것으로 나타났다. 세부적으로는 기술사업화지원이 가장 큰 영향을 미쳤다. 창업성과의 히위요인인 경제적 성과에는 창업자금이 가장 큰 영향을 미쳤으며, 비재무적 성과에는 기술사업화지원이 가장 큰 영향을 미쳤다. 창업동기는 부분배개효과를 미쳤다. 정부의 창업지원정책 실시의중요성은 다시 한 번 강조되었고, 창업지원정책 수립에 있어서 창업교육지원 등 부족한 부분에 대한 보완이 고려되어야 한다고 판단하였다. Despite the fact that the importance of entrepreneurship in a country’s economic growth and personal lives has been proven both academically and empirically for a long time, the overwhelming majority of entrepreneurial endeavors in Korea are still carried out by individuals with their own ideas and personal funds. In this process, individuals have a vague fear of starting a business and fear of failure due to inexperience. This study aims to investigate the impact of government startup support policies on startup performance. By doing so, it is possible to investigate the extent to which startup support policies affect startup performance as realized by entrepreneurs. The results show that startup support policies have a significant impact on startup performance. Specifically, technology commercialization support had the greatest impact. Startup funds had the largest impact on economic performance, which is a key factor in startup performance, and technology commercialization support had the largest impact on non-financial performance. Startup motivation had a partial moderating effect. The importance of implementing the government’s entrepreneurship support policy was emphasized once again, and it was judged that supplementation of deficiencies such as entrepreneurship education support should be considered in the establishment of entrepreneurship support policies.