• Journal of Genetic Medicine
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• 제15권1호
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• pp.24-27
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• 2018

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

• 한국시뮬레이션학회논문지
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• 제10권3호
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• pp.47-58
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• 2001

Evaluation of Freeway Congestion Management Using Mesoscopic Traffic Simulator A mesoscopic simulation study to measure the effects of trip generation caused by rampant expansion of residential area around the Kyungbu corridor has been conducted. Some alternatives, which seem to be judgememtally plausible and technically feasible to mitigate such congestion, have been carefully examined and evaluated by the simulation model called INTEGRATION. Alternatives are mostly network improvements. Banpo IC dedicated ramp construction (A1), Seocho IC TSM based weaving elimination (A2), dedicated local and express separation over Seocho-Yangjae segment (A3), Heonleung IC (A4) and Daewang If installations (A5), Pangyo IC improvement (A6), Baikhyun IC (A7) and Dongbaek IC installations (A8) along with Shingal-Pangyo segment capacity addition (A9). The most capital intensive ones are A9, A5, and A4 in that order. A1, A6, A7, and A8 are short in distance but they are also capital intensive and need some construction periods. The least capital driven alternatives are h2 and A3, the h2 is easier to do, but A3 needs traffic diversion scheme during construction. The A1, A7, and A8 have been identified cost effective in terms of speed increase and travel time saving. Along with these results, some limitations and future research agenda regarding simulation have also been presented.

• Molecules and Cells
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• 제20권1호
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• pp.83-89
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• 2005

HtrA2/Omi is a mammalian mitochondrial serine protease homologous to the E. coli HtrA/DegP gene products. Recently, HtrA2/Omi was found to have a dual role in mammalian cells, acting as an apoptosis-inducing protein and being involved in maintenance of mitochondrial homeostasis. By screening a human brain cDNA library with $A{\beta}$ peptide as bait in a yeast two-hybrid system, we identified HtrA2/Omi as a binding partner of $A{\beta}$ peptide. The interaction between $A{\beta}$ peptide and HtrA2/Omi was confirmed by an immunoblot binding assay. The possible involvement of HtrA2/Omi in $A{\beta}$ peptide metabolism was investigated. In vitro peptide cleavage assays showed that HtrA2/Omi did not directly promote the production of $A{\beta}$ peptide at the ${\beta}/{\gamma}$-secretase level, or the degradation of $A{\beta}$ peptide. However, overexpression of HtrA2/Omi in K269 cells decreased the production of $A{\beta}40$ and $A{\beta}42$ by up to 30%. These results rule out the involvement of HtrA2/Omi in the etiology of Alzheimer's disease. However, the fact that overexpression of HtrA2/Omi reduces the generation of $A{\beta}40$ and $A{\beta}42$ suggests that it may play some positive role in mammalian cells.

• Molecules and Cells
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• 제38권6호
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• pp.573-579
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• 2015

Apolipoprotein A-I and A-IV are protein constituents of high-density lipoproteins although their functional difference in lipoprotein metabolism is still unclear. To compare anti-atherogenic properties between apoA-I and apoA-4, we characterized both proteins in lipid-free and lipidbound state. In lipid-free state, apoA4 showed two distinct bands, around 78 and $67{\AA}$ on native gel electrophoresis, while apoA-I showed scattered band pattern less than $71{\AA}$. In reconstituted HDL (rHDL) state, apoA-4 showed three major bands around $101{\AA}$ and $113{\AA}$, while apoA-I-rHDL showed almost single band around $98{\AA}$ size. Lipid-free apoA-I showed 2.9-fold higher phospholipid binding ability than apoA-4. In lipid-free state, $BS_3$-crosslinking revealed that apoA-4 showed less multimerization tendency upto dimer, while apoA-I showed pentamerization. In rHDL state (95:1), apoA-4 was existed as dimer as like as apoA-I. With higher phospholipid content (255:1), five apoA-I and three apoA-4 were required to the bigger rHDL formation. Regardless of particle size, apoA-I-rHDL showed superior LCAT activation ability than apoA-4-rHDL. Uptake of acetylated LDL was inhibited by apoA-I in both lipid-free and lipid-bound state, while apoA-4 inhibited it only lipid-free state. ApoA-4 showed less anti-atherogenic activity with more sensitivity to glycation. In conclusion, apoA-4 showed inferior physiological functions in lipid-bound state, compared with those of apoA-I, to induce more pro-atherosclerotic properties.

• 환경위생공학
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• 제5권2호
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• pp.81-94
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• 1990

The view of this research was to investigate the state of a sanitary management in the industrial area of Masan and Changweon cities through the nutritionists who works in the group food service facilities. The following results are as indicated . 1. The management types of group food service facilities are a direct management 89.7% , a consignned management 7.7% , an(1 a semimanagement 2.6% . 2. The survey for purulent inflammation and a possible disease of a cook is 59.0%. In the case of a wound of hand and foot and disease, the rate of non-worked people is 51.3% 3.4 regular medical examination of a cook was generally well executed, but only 64.1% were received an examination of the feces, and 88.0%, among them had one time per 6months. 4. Wearing a cap, a gown, and a private foot-wear in a kitchen of the cook was well executed, but nowhere was found to put on a mask 5. Only 11.5% of the group feeding facilities had a their own sterilizing lamp, and the company with a repository in a low temperature was 25.6% , 6.4 private toilet of the cook were estabilshed at rate of 38.5% , and also a private toilet providing with a sterilizing soap was 52.6% . 7. The pasteurization of a kitchen table before cooking was 28.2%, In the case of using a cooking dipper, spoon, tweezers when one taste was 83.3% , and using a hand when one dish up was 74.4 %. 8. When one use a raw egg, washing a shell was 35.9%. 9. The rate of a nutritionists writing a diary of the sanitary check-up was 75.6%, and only 23.1% of the facilities was provided with a preserved food. 14.1% of the nutritionists did a sanitary eaucation periodically.

• 한국결정학회지
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• 제4권1호
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• pp.6-10
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• 1993

11 β ,17 β -dihydroxy-9a-fluoro-l7a-methyl androst-4-en-3-one (Fluoxymesterone), CgoH29 FO,, orthorhombic, P2,2,2,, a=13.468(5) A, b= 19.554 (2)A, c=6.578(9)A, a=b=r=90˚, A (CuKa)=1.5406 A , Dm=1.289cm-3, Dc=1.299cm-3 and Z=4 at T=298k. The structure was solved by direct method using seminvariants of ggg Parity group and refined by the full-matrix least-square method, resulting model with reliability factor R=0.069 for 1098 unique reflection over 3σ . Ring A is an 1β-2a-half chair, 5 ring has a highly symmetrical chair conformation, C ring is in a distorted chair conformation and D ring is a 13aenveLope conformation. In the crystal structure, the molecules are packed with a hydrogen bond of 011-H23‥‥03(0.5+x, 1.5-y, 1.0-z) [1.94(9) A of H‥‥0.2.786(9)A of 0‥‥0 and 165(8) ˚ of

• 교육시설
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• 제12권5호
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• pp.25-34
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• 2005

The Educational Cultural Center for Students is a new mixed-cultural space which made around 1997 for students' education of humanism and talent with the 7th revision of educational course. This Educational Cultural Center for Students is different to the existing one because the subject of the culture is students who make creation and performance by themselves while the former ones were for seeing, hearing and feeling things. There are seven Educational Cultural Center for Students all over the country and will be built more in the future. Comparing to the former Educational Cultural Centers for Students, functional rooms in the Educational Cultural Centers for Students are an outdoor performance room, a large performance room, a small performance room of performance facility, a gallery of display facility, a gymnasium, a swimming pool, a fitness room, a table-tennis room of physical facility, a library and a reading room of a book facility, and a group room, a computer room, a singing room, a billiard room, an art room, a musical room, a dancing room, a manner room, a playing room, a cultural lecture room and a seminar room of a interest-activity facility. The result of analyzing the usage frequency is that a performance room has the highest frequency and a display room, a musical room, a music appreciation room and a physical room follow the frequency order. But this frequency does not fit for all area. By place and social situations, the frequency and space organization may be changed.

• 식물분류학회지
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• 제45권3호
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• pp.227-238
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• 2015

표본과 야외조사를 기초로 한국산 황기속의 분류학적 재검토가 이루어 졌다. 그 결과 한반도에는 다음과 같은 8종 1변종이 분포하는 것으로 밝혀졌다 A. laxmannii subsp. laxmannii (자주개황기), A. dahuricus (자주황기), A. sikokianus (강화황기), A. uliginosus (개황기), A. schelichowii (긴꽃대황기), A. setsureianus (설령황기), A. mongholicus var. dahuricus (황기), A. mongholicus var. nakaianus (제주황기), A. sinicus (자운영). 최근의 황기속에 대한 분류학적 연구결과들을 참조하여 한국산 종들의 학명이 재정리 되었다. 기존에 탐라황기를 포함한 자주개황기의 학명으로 쓰이던 A. adsurgens를 A. laxmannii subsp. laxmannii에 포함시켰다. 한반도 특산으로 강원도에서 처음 기재된 정선황기는 강화황기와 동종으로 판단되었다. 한편 한국산으로 잘 알려져 있지 않던 설령황기와 긴꽃대황기에 대해 분류학적 실체와 형태적 특징을 자세히 밝혔다. 또한 한국산 종들의 이명을 포함한 학명 정리와 분류학적 견해를 기술하고 검색표를 작성하였다.

• 한국의상디자인학회지
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• 제10권1호
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• pp.1-9
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• 2008

The purpose of this research is to lay the foundation that middle aged woman takes care of more healthy, beautiful, attractive external features and prepares successful ageing on studying a difference of recognition between an actual somatotype and an ideal somatotype after we examine an actual somatotype and an ideal somatotype in the object of about $40{\sim}50$ middle-aged woman, dwells in Seoul, is the main group of a home consumption socially. The result of comparing a difference between an actual somatotype and an ideal somatotype was showing that in case of a facial form, the group which their faces are an egg-shaped prefers an egg-shaped and the group which their faces are a round-shaped prefers a round-shaped. In case of a silhouette, all groups prefers a normal type most. In case of a shoulder's type, all groups prefer a normal type most. In case of a shoulder-waist line, all groups prefers a Y line most. In case of a breast's form, all groups prefer a normal type most. In case of a back's form, all groups prefer a normal type most. In case of a buttocks' form, all groups prefers a normal type most. In case of a leg's form, all groups prefers a normal type most. On putting together research result as yet, middle aged women wish a similar somatotype irrespective of an age, an obesity measurement and this means a recognition of making an effort to be beautiful is alike. Therefore, it is necessary to recognize a somatotype of middle aged women uprightly and it must be accomplished a continuous, systematic consultation and education about a weight-control on exercising and not to mention of making a desirable eating habit.

• Nuclear Engineering and Technology
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• 제39권5호
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• pp.637-646
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• 2007

An UET (ultrasound excited thermography) has been used for several years for a remote non-destructive testing in the automotive and aircraft industry. It provides a thermo sonic image for a defect detection. A thermograhy is based On a propagation and a reflection of a thermal wave, which is launched from the surface into the inspected sample by an absorption of a modulated radiation. For an energy deposition to a sample, the UET uses an ultrasound excited vibration energy as an internal heat source. In this paper the applicability of the UET for a realtime defect detection is described. Measurements were performed on two kinds of pipes made from a copper and a CFRP material. In the interior of the CFRP pipe (70mm diameter), a groove (width - 6mm, depth - 2.7mm, and length - 70mm) was engraved by a milling. In the case of the copper pipe, a defect was made with a groove (width - 2mm, depth - 1mm, and length - 110 mm) by the same method. An ultrasonic vibration energy of a pulsed type is injected into the exterior side of the pipe. A hot spot, which is a small area around the defect was considerably heated up when compared to the other intact areas, was observed. A test On a damaged copper pipe produced a thermo sonic image, which was an excellent image contrast when compared to a CFRP pipe. Test on a CFRP pipe with a subsurface defect revealed a thermo sonic image at the groove position which was a relatively weak contrast.