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Choe Jaewon,Kim Jae Hyun,Kim Young Ah,Lee Jieun 대한소아내분비학회 2020 Annals of Pediatirc Endocrinology & Metabolism Vol.25 No.3
Isolated hypogonadotropic hypogonadism (IHH) is a rare genetic disorder that is clinically and genetically heterogeneous. It is characterized by absent or incomplete pubertal development owing to an isolated defect in the production, secretion, or action of gonadotropin-releasing hormone. The incidence of IHH is estimated at 1:30,000 in males and 1:125,000 in females. Although the vast majority of IHH cases are sporadic, some X-linked recessive, autosomal dominant, and autosomal recessive modes of inheritance have been described. IHH can be classified into Kallmann syndrome with anosmia and normosmic IHH. Here, we report dizygotic twin sisters with normosmic IHH who showed short stature and absence of puberty as a result of a variant of the FGFR1 gene. They had a normal sense of smell, and brain magnetic resonance imaging (MRI) showed well-defined olfactory bulbs. The older sister and the twins' mother had cleft palate, while the younger sister did not. The mother had menarche at the age of 16 years after hormonal replacement owing to delayed puberty. Molecular analysis of the FGFR1 gene identified a missense variant c.874C>G (p.His292Asp) in the twins and their mother. Herein, we described the clinical heterogeneity observed in the 2 affected twins who carry an identical variant in the FGFR1 gene. Further studies of the effects of modifier genes and epigenetic factors on the expression of FGFR1, as well as the various clinical manifestations of its mutations, are warranted.
Choe Jaewon,Kim Jaehyun,Moon Jin Soo 대한소아내분비학회 2023 Annals of Pediatirc Endocrinology & Metabolism Vol.28 No.2
Purpose: Several definitions for severe obesity have been used, primarily the 99th percentile of the body mass index (BMI) and 120% of the 95th BMI percentile. This study aimed to establish a standardized definition for severe obesity in children and adolescents in Korea. Methods: The 99th BMI percentile line and 120% of the 95th BMI percentile line were constructed using 2017 Korean National Growth Charts. To compare these 2 cutoff points for severe obesity, we included 9,984 individuals (5,289 males and 4,695 females) aged 10–18 years with anthropometric data available from the Korean National Health and Nutrition Examination Survey 2007–2018. Results: Although 120% of the 95th percentile of BMI is widely used as a definition of severe obesity, the 99th percentile is almost identical to 110% of the 95th percentile in Korea, according to the latest national BMI growth chart for children and adolescents. The prevalence rates of high blood pressure, high triglycerides, low high-density lipoprotein cholesterol, and high alanine aminotransferase in the participants whose BMI was ≥120% of the 95th percentile were higher than in those whose BMI was ≥99th percentile (P<0.001). Conclusion: A cutoff value for severe obesity of ≥120% of the 95th percentile is appropriate in children and adolescents in Korea. To provide follow-up care for severely obese children and adolescents, it is necessary to add a new line at 120% of the 95th percentile to the national BMI growth chart.
김재원(Jaewon Kim),최준형(Junhyung Choi),최금봉(Keumbong Choe),심수민(Sumin Sim),이대성(Dae Sung Lee) 한국암반공학회 2017 터널과지하공간 Vol.27 No.1
본 연구는 유·가스 저류층의 암석 투과도 분석을 위해 다양한 층리를 가진 암석과 치밀사암(tight sandstone)을 이용하여 실제 현장의 응력조건을 고려한 암석 투과도를 연구하였다. 다양한 층리를 고려하기 위하여 수평/수직 층리(horizontal & vertical bedding) 및 층리가 존재하지 않는(non-bedding) 암석 시료를 사용하였으며, 균열이 존재하는 저류층의 암석 투과도를 연구하고자 인공균열을 생성시킨 치밀사암을 사용하였다. 실제 심도에서 암석이 받는 유효응력(effective stress)을 암석 투과도 실험에 구현하기 위해 삼축 압력셀을 이용하여 심도별 암석투과도 실험을 수행하였다. 암석 시료에 가해지는 유효응력 및 공극압으로 구분하여 응력조건을 고려하였다. 실험은 두 가지 형태의 응력 해방조건을 고려하여 실시하였다. 또한 암석 투과도 개선을 위한 균열 지지제(proppant)를 주입해 응력조건별 균열 암석 투과도 변화 양상을 분석하였다. 실험결과, 층리 암석투과도에서는 층리가 존재하지 않는 암석 시료가 응력에 가장 민감하게 반응하였으며, 균열 암석 투과도에서는 균열 지지제주입 유무에 따라 암석 투과도 값이 크게 달라지는 것을 확인 할 수 있었다. In this study, bedding rock permeability was measured using Berea sandstones with three different beddings. The fracture permeability was also measured using tight sandstone with two different fracture regimes considering in-situ stress conditions. The Berea sandstone with vertical, horizontal and non-bedding was used to analyze evolution of permeability upon in-situ stress conditions. In order to describe applied effective stress around rock in underground, the triaxial pressure cell & hydrostatic pressure cell was designed and permeability experiments were performed with controlled axial and confining pressures. The measurement of permeability was conducted by increasing and decreasing effective stress. The permeability of non-bedding rock sample is the most sensitive to applied stress conditions and fracture permeability of tight sandstone increases with fracture treatment with proppant.
BubR1 acetylation at prometaphase is required for modulating APC/C activity and timing of mitosis
Choi, Eunhee,Choe, Hyerim,Min, Jaewon,Choi, Ji Yoon,Kim, Jimi,Lee, Hyunsook Nature Publishing Group 2009 The EMBO journal Vol.28 No.14
<P>Regulation of BubR1 is central to the control of APC/C activity. We have found that BubR1 forms a complex with PCAF and is acetylated at lysine 250. Using mass spectrometry and acetylated BubR1-specific antibodies, we have confirmed that BubR1 acetylation occurs at prometaphase. Importantly, BubR1 acetylation was required for checkpoint function, through the inhibition of ubiquitin-dependent BubR1 degradation. BubR1 degradation began before the onset of anaphase. It was noted that the pre-anaphase degradation was regulated by BubR1 acetylation. Degradation of an acetylation-mimetic form, BubR1–K250Q, was inhibited and chromosome segregation in cells expressing BubR1–K250Q was markedly delayed. By contrast, the acetylation-deficient mutant, BubR1–K250R, was unstable, and mitosis was accelerated in BubR1–K250R-expressing cells. Furthermore, we found that APC/C–Cdc20 was responsible for BubR1 degradation during mitosis. On the basis of our collective results, we propose that the acetylation status of BubR1 is a molecular switch that converts BubR1 from an inhibitor to a substrate of the APC/C complex, thus providing an efficient way to modulate APC/C activity and mitotic timing.</P>
Seo, Hyunuk,Lim, Jaewon,Choe, Gyu-Ha,Choi, Jang-Young,Jeong, Jae-Hoon IEEE 2018 IEEE transactions on magnetics Vol.54 No.11
<P>This paper presents the analyses and experimental results of a single-sided linear induction motor (SLIM) thrust and normal force for the propulsion of semi-high-speed magnetic levitation (maglev) trains. These trains are composed of a levitation system that uses electromagnetic suspension and a propulsion system that uses SLIMs. The propulsion system of maglev trains using SLIMs has better low noise and dynamic characteristics compared with those using rotators. However, it has nonlinear characteristics due to the effect of slip that occur in the secondary eddy-current induction process; the normal force generated by the SLIM can negatively affect the levitation control. Therefore, a new slip-control algorithm is proposed for the safe operation of maglev trains, reflecting the normal force of the motor in propulsion control. First, the SLIM thrust and normal force are analyzed through the finite-element method (FEM) for a precise analysis of the slips. Furthermore, a slip range with a low normal force was derived based on the FEM analysis results, and these results are reflected in the propulsion control algorithm. Finally, the new algorithm was validated by an application to a full-sized testing apparatus.</P>
Change in the diagnosis of inflammatory bowel disease: a hospital-based cohort study from Korea
( Ho-su Lee ),( Jaewon Choe ),( Hyo Jeong Lee ),( Sung Wook Hwang ),( Sang Hyoung Park ),( Dong-hoon Yang ),( Kyung-jo Kim ),( Byong Duk Ye ),( Jeong-sik Byeon ),( Seung-jae Myung ),( Yong Sik Yoon ) 대한장연구학회 2016 Intestinal Research Vol.14 No.3
Background/Aims: Accurately diagnosing inflammatory bowel disease (IBD) remains a challenge, but is crucial for providing proper management for affected patients. The aim of the present study was to evaluate the frequency of change in diagnosis in Korean patients who were referred to our institution with a diagnosis of IBD. Methods: We enrolled 1,444 patients diagnosed with ulcerative colitis (UC) and 1,452 diagnosed with Crohn’s disease (CD), who had been referred to the Asan Medical Center between January 2010 and December 2014. These patients were assessed and subsequently classified as having UC, CD, indeterminate colitis, possible IBD, or non-IBD. Results: During a median follow-up of 15.9 months, 400 of the 2,896 patients (13.8%) analyzed in this study experienced a change in diagnosis. A change in diagnosis from UC to CD, or vice-versa, was made in 24 of 1,444 patients (1.7%) and 23 of 1,452 patients (1.6%), respectively. A change to a non-IBD diagnosis was the most common modification; 7.5% (108 of 1444) and 12.7% (184 of 1452) of the patients with a referral diagnosis of UC and CD, respectively, were reclassified as having non-IBD. Among the 292 patients who were ultimately determined not to have IBD, 135 (55 UC and 80 CD cases) had received IBD-related medication. Conclusions: There are diagnostic uncertainties and difficulties in relation to IBD. Therefore, precise assessment and systematic follow-up are essential in the management of this condition.
Longitudinal Association between Nonalcoholic Fatty Liver Disease and Cancer Risk
( Gi-ae Kim ),( Han Chu Lee ),( Jaewon Choe ),( Min Jung Lee ),( Hye-sook Chang ),( In Young Bae ),( Hong-kyu Kim ),( Jihyun An ),( Ju Hyun Shim ),( Kang Mo Kim ),( Young-suk Lim ) 대한간학회 2017 춘·추계 학술대회 (KASL) Vol.2017 No.1
Aims: Little is known about the longitudinal association between nonalcoholic fatty liver disease (NAFLD) and cancer risk. This study investigated cancer incidence in NAFLD. Methods: This retrospective cohort study included subjects who underwent a heath checkup at a tertiary hospital from September 1, 2004 to December 31, 2005 and were then followed up for >1 year. NAFLD was diagnosed by ultrasonographic detection of hepatic steatosis in the absence of other known liver disease. Cancer risk was presented as a hazard ratio (HR) calculated in Cox proportional hazard regression model. Results: Of 25,947 subjects, 8,721 (33.6%) had NAFLD. During a total follow-up of 190,615 person-years (median 8.5 years), cancer incidence was higher in the NAFLD group than in the non-NAFLD group (677.8 vs. 511.5 per 100,000 person-years; HR 1.32; 95% confidence interval [CI], 1.17-1.49; p < 0.001). After adjusting for demographic and metabolic factors, the risks were significantly higher in the NAFLD group for hepatocellular carcinoma (HCC; HR, 16.73; 95% CI, 2.09-133.85; p = 0.008), colorectal cancer in males (HR 2.01; 95% CI, 1.10-3.68; p = 0.02), and breast cancer in females (HR 1.92; 95% CI, 1.15-3.20; p = 0.01). Subjects with high NAFLD fibrosis scores or high FIB-4 scores had a greater risk of all cancers and of HCC in particular. Conclusions: Patients with NAFLD had an increased risk of HCC, colorectal cancer in males, and breast cancer in females. Noninvasive fibrosis scores were shown to predict development of all cancers and HCC.