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Prenatal Diagnosis of the 22q11.2 Duplication Syndrome

  • Lee, Moon-Hee;Park, So-Yeon;Lee, Bom-Yi;Choi, Eun-Young;Kim, Jin-Woo;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Yang, Jae-Hyug;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.6 no.2
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    • pp.175-178
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    • 2009
  • The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.

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Neuroprotective Effect of Dizocilpine (MK-801) via Anti-apoptosis on Hypoxic-ischemic Brain Injury in Neonatal Rats

  • Seo, Min-Ae;Lee, Hyun-Ju;Choi, Eun-Jin;Kim, Jin-Kyung;Chung, Hai-Lee;Kim, Woo-Taek
    • Neonatal Medicine
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    • v.17 no.2
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    • pp.181-192
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    • 2010
  • Purpose: Current studies have demonstrated the neuroprotective effects of dizocilpine (MK-801) in many animal models of brain injury, including hypoxic-ischemic (HI) encephlopathy, trauma and excitotoxicity, but limited data are available for those during the neonatal periods. Here we investigated whether dizocilpine can protect the developing rat brain from HI injury via anti-apoptosis. Methods: In an in vitro model, embryonic cortical neuronal cell culture of Sprague-Dawley (SD) rats at 18-day gestation was done. The cultured cells were divided into three groups: normoxia (N), hypoxia (H), and hypoxia treated with dizocilpine (HD). The N group was prepared in 5% $CO_2$ incubators and the other groups were placed in 1% $O_2$ incubators (94% N2, 5% $CO_2$) for 16 hours. In an in vivo model, left carotid artery ligation was done in 7-day-old SD rat pups. The animals were divided into six groups; hypoxia (N), hypoxia (H), hypoxia with sham-operation (HS), hypoxia with operation (HO), HO treated with vehicle (HV), and HO treated with dizocilpine (HD). Hypoxia was made by exposure to a 2 hour period of hypoxic incubator (92% N2, 8% $O_2$). Results: In the in vitvo and in vivo models, the expressions of Bcl-2 in the hypoxia groups were reduced compared to the normoxia group. whereas those in the dizocilpine-treated group were increased compared to the hypoxia group. However. the expressions of Bax and caspase-3 and the ratio of Bax/Bcl-2 were revealed reversely. Conclusion: Dizocilpine has neuroprotective property over perinatal HI brain injury via anti-apoptosis.

The Heterogeneity of Flow Distribution and Partition Coefficient in [15O-H2O] Myocardium Positron Emission Tomography ([15O-H2O] 심근 양전자 단층 촬영에서 혈류 분포의 비균일성과 분배계수)

  • Ahn, Ji Young;Lee, Dong Soo;Kim, Kyung Min;Jeong, Jae Min;Chung, June-Key;Shin, Seung-Ae;Lee, Myung Chul;Koh, Chang-Soon
    • The Korean Journal of Nuclear Medicine
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    • v.32 no.1
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    • pp.32-49
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    • 1998
  • For estimation of regional myocardial blood flow with O-15 water PET, a few modifications considering partial volume effect based on single compartment model have been proposed. In this study, we attempted to quantify the degree of heterogeneity and to show the effect of tissue flow heterogeneity on partition coefficient(${\lambda}$) and to find the relation between perfusable tissue index(PTI) and ${\lambda}$ by computer simulation using two modified models. We simulated tissue curves for the regions with homogeneous and heterogeneous blood flow over a various flow range(0.2-4.0ml/g/min). Simulated heterogeneous tissue composed of 4 subregions of the same or different size of block which have different homogeneous flow and different degree of slope of distribution of blood flow. We measured the index representing heterogeneity of distribution of blood flow for each heterogeneous tissue by the constitution heterogeneity(CH). For model I, we assumed that tissue recovery coefficient ($F_{MME}$) was the product of partial volume effect($F_{MMF}$) and PTI. Using model I, PTI, flow, and $F_{MM}$ were estimated. For model II, we assumed that partition coefficient was another variable which could represent tissue characteristics of heterogeneity of flow distribution. Using model II, PTI, flow and ${\lambda}$ were estimated. For the simulated tissue with homogeneous flow, both models gave exactly the same estimates, of three parameters. For the simulated tissue with heterogeneous flow distribution, in model I, flow and $F_{MM}$ were correctly estimated as CH was increased moderately. In model II, flow and ${\lambda}$ were decreased curvi-linearly as CH was increased. The degree of underestimation of ${\lambda}$ obtained using model II, was correlated with CH. The degree of underestimation of flow was dependent on the degree of underestimation of ${\lambda}$. PTI was somewhat overestimated and did not change according to CH. We conclude that estimated ${\lambda}$ reflect the degree of tissue heterogeneity of flow distribution. We could use the degree of underestimation of ${\lambda}$ to find the characteristic heterogeneity of tissue flow and use ${\lambda}$ to recover the underestimated flow.

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Physicochemical Properties of Jadeite Powder and Its Application to Cosmetic Formulations (경옥가루의 물리화학적 특성 및 화장품 제형 응용 연구)

  • Kim, Kyoung Mi;Kim, Yong Woo;Hong, In Gi;Park, Soo Nam
    • Applied Chemistry for Engineering
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    • v.29 no.1
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    • pp.81-96
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    • 2018
  • In this study, physicochemical properties of the natural jadeite powder were investigated and also the wash-off pack and liquid foundation containing the jadeite powder were prepared. In addition, each of these formulations was evaluated by various functional effects, sensory evaluation, stability and skin safety. In the wash-off pack, the far-infrared ray emissivity and radiation energy values increased as a function of the jadeite powder content. At a 3% jadeite powder content, the skin temperature increased by about $0.5^{\circ}C$ when the jadeite powder-containing formulation was applied to the skin. Besides, the chroma of the liquid foundation containing the jadeite powder more clearly expressed the original color of the skin. Moisture content measurements of the wash-off pack and liquid foundation containing the jadeite powder showed the highest moisture uptake of 5.0% and 63.0%, respectively. In sensorial test, the wash-off pack formulations containing the jadeite powder demonstrated improved affinities toward a skin, adherency, and moistness and combatted itching. The liquid foundation containing jadeite powder showed also improved affinities except for the coverage when compared to control formulations. Furthermore, the stability evaluation for 8 weeks revealed neither discoloration nor separation phenomenon for the formulations containing the jadeite powder. Moreover, the pH was found to be stable up to 8 weeks and the viscosity up to 4 weeks. Skin safety assessments showed that all formulations containing the jadeite powder were non-irritating. These results suggest that the jadeite powder as an inorganic pigment may serve as a new multi-functional cosmetic ingredient with stability and safety.

Quality Characteristics of Muhwakwa-pyun with Various Starches (전분 종류를 달리한 무화과편의 품질 특성)

  • 김병숙;정미란;이영은
    • Korean journal of food and cookery science
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    • v.19 no.6
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    • pp.783-793
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    • 2003
  • The effects of various kinds of starch (mungbean, potato, corn and a blend of potato and com starch) on the quality characteristics of muhwakwa-pyun were studied according to the storage duration. The sweetness, pH and total acidity of muhwakwa extract were analyzed, as were the Visco/Amylograph viscosity profile and DSC thermodynamic characteristics of starches. For quality characteristics, color difference, instrumental texture characteristics and sensory characteristics were compared. The sweetness of muhwakwa extract was satisfactory but the total acidity was low for Kwa-pyun manufacture. Therefore, its pH was adjusted to 3.4 by adding 10% citric acid with an amount of 1% of total liquid. From the Visco/Amylograph viscosity profile and DSC thermodynamic characteristics of starches, a blend of potato and com starch was found to be easy to cook and form a gel but a little more resistant than the other starches in terms of retrogradatin. Lightness (L) and yellowness (b) of Kwa-pyun increased while its redness (a) decreased by the storage. The color became whiter and the clarity decrease regardless of the kinds of starch, which became obvious after 3 days of storage. The hardness, springiness, adhesiveness and cohesiveness tended to decrease with storage, which was weak in a blend starch. The overall acceptability of Kwa-pyun made with a blend of potato and com starch was evaluated as being the best among the samples tested. Therefore, for traditional kwa-pyun manufacture manufacture mungbean starch might be replaced with a blend of potato and corn starch which is less expensive and easily available in the market nowadays.

Optimization of Correction Factor for Linearization with Tc-99m HM PAO and Tc-99m ECD Brain SPECT (Tc-99m HMPAO와 Tc-99m ECD 뇌SPECT의 뇌혈류량 정량화에 사용되는 Linearization Algorithm의 Correction Factor 조사)

  • Cho, Ihn-Ho;Hayashida, Kohei;Won, Kyu-Chang;Lee, Hyoung-Woo;Watabe, Hiroshi;Kume, Norihiko;Uyama, Chikao
    • Journal of Yeungnam Medical Science
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    • v.16 no.2
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    • pp.237-243
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    • 1999
  • We conducted this study to find the optimal correction factor(${\alpha}$) of Lassen's linearization algorithm which has been applied for correction of flow-limited uptake at a high flow range in $^{99m}Tc$ d,l-hexamethylpropy leneamine oxime(HMPAO) and $^{99m}Tc$ ethyl cysteinate dimer(ECD). Ten patients with chronic cerebral infarction were involved in this study. We obtained the corrected $^{99m}Tc$ HMPAO and $^{99m}Tc$-ECD brain SPECT(single photon emission computed tomography) using the algorithm with ${\alpha}$ values that varied from 0.1 to 10 and compared the results with regional cerebral blood flow determined by positron emission tomography (PET-rCBF). The multi-modal volume registration by maximization of mutual information was used for matching between PET-rCBF and SPECT images. The highest correlation coefficient between $^{99m}Tc$-HMPAO and $^{99m}Tc$-ECD brain uptake and PET-rCBF was revealed at ${\alpha}$ 1.4 and 2.1, respectively. We concluded that the ${\alpha}$ values of Lassen's linearization algorithm for $^{99m}Tc$-HMPAO and $^{99m}Tc$-ECD brain SPECT images were 1.4 and 2.1, respectively to indicate cerebral blood flow with comparison of PET-rCBF.

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Properties of Wildbirds Habitat according to Biotope Types at Seom River and Wonju Stream (원주시 섬강, 원주천의 비오톱유형별 야생조류 서식특성 연구)

  • Noh, Tai-Hwan;Pi, Jae-Hwang;Choi, Jin-Woo;Lee, Kyong-Jae
    • Korean Journal of Environment and Ecology
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    • v.27 no.6
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    • pp.676-689
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    • 2013
  • This study is to understand the current situation of Wonju Stream, which flows through Wonju, Kangwon-do, and Seom River, the national river located outside of Wonju, by investigating all river areas using biotope type. Also, this research looked into the relationship between biotope and appearance of wild birds by investigating the location of their appearance. Biotope groups are 'scale', 'shape', and 'landscape'. And, biotope types are 'moisture', 'physical environment', and 'existence of vegetation'. Biotope subtypes are 'river area', 'physical environment', 'vegetation type', and 'usage of land'. Seom River is classified as 21 different sections, and Wonju Stream is classified as 19 different sections. Wild birds are investigated on breeding season, which was January and May of 2008. By marking each bird's location of appearance, it figured out properties of biotope according to the location of bird's appearance. 31 species, 795 birds in spring were founded, and 49 species, 4,348 birds are founded in winter at Seom River area. Also, 34 species, 427 birds in spring, and 33 species, 3,442 birds are founded in winter at Wonju Stream area. In winter, 26 species, 547 birds, and in spring, 12 species, 72 birds at natural river with estuaries in confluence of Seom River area are founded. Also, 34 species, 1412 birds in winter, and 24 species, 341 birds in spring are founded at natural river with estuaries and wetland plants. This means that because agricultural rivers have wide river width, slow flow speed, and many different types of biotope, these rivers can be good habitats for wild birds. The precise investigations and classifications of biotope, which especially are hard for linear rivers, were done to understand the whole and current situation of rivers. Furthermore, the data that shows the locations of wild birds can basically be used for a recovery of biological habitats, a constructing of ecological streams, a river-maintenance, and an enhancement of biodiversity of Wonju. Also, because the types of biotope are altered by rain, a continuous monitoring for maintaining ecosystem of rivers are highly needed.

A Study on Sijo Poem's Subject of Gagok (가곡의 시조시 주제 연구)

  • Shin Woong-Soon
    • Sijohaknonchong
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    • v.22
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    • pp.85-113
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    • 2005
  • This paper's target is two music books, 100 man's Gagok songs and 88 woman's Gagok songs compiled by Kim Kee-soo. The next is an interpretation on 9 subject classifications. 1. There is a similiarity in subject between $\lceil$kyobonyukdaesijo's collection$\rfloor$ and man's Gagok song. 2. There is a wide difference in man and woman's love subject between man's Gagok songs and woman's Gagok songs. 3. The subject changes as Gagok progreasses. 4. There are many nameless writers in the prograss of Nong$\cdot$Na k$\cdot$Peon. 5. Taepeongga, whose theme is to enjoy pleasure, forms the last beauty. Sijo poem's subjects, which belongs to the noble class, shows the mode of scholar's elegant life at that time.

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Studies on the Physiological Chemistry of the Spring Growth Habits in Naked Barley V. Changes in the Isozyme Patterns and Activities of Peroxidase During the Differentiation (과맥의 파성에 대한 생리화학적 연구 V. 유수의 분화, 발육과정중 Peroxidase의 활성 및 Isozyme Pattern)

  • 최선영;이강수;박기훈
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.31 no.3
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    • pp.375-382
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    • 1986
  • This study was carried out to obtain the basic information for the clarification of spring growth habits mechanism of naked barleys. The isozyme patterns and activities of peroxidase in the young spike and leaf blade were analyzed during the differentiation and development of young spike. The characteristic differences between the normal and rosetted type were in c and g isozymes in young spike, and in i isozyme in the leaf blade. In the normal type, c and i isozymes disappeared at the stage of spi-kelet differentiation, g isozyme at the stage of flolet differentiation. But, in the rosetted type, those three isozymes remained in dark stained condition until the time of final sampling. Especially, those three isozymes were higher in the rosetted type than those in the normal type even at the stage of bract differentiation(BDS), just prior to the reproductive stage. The activities of peroxidase decreased slowly after BDS in the young spike and leaf blade in the normal type, While, in the rosetted type, increased linearly, and the degree of increasing was remarkable in the young spike. It was interesting that the degree of activities in young spike was higher in the rosetted type than that in the normal type even at BDS. From the above results, the remarkable differences of the isozyme patterns and activities at BDS between the normal and rosetted type were considered to be the physiological expression of the varieties concerned with the degree of spring growth habits.

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A Study on the Visual Preference of Users according to the Location of Benches at Urban Community Parks (도시공원에서 벤치의 배치장소에 따른 이용자의 시각적 선호도에 관한 연구)

  • 유상완;문석기;권상준
    • Archives of design research
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    • v.13 no.2
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    • pp.95-102
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    • 2000
  • The purpose of this study is to find out what is the preference of users according to the location of benches at urban community parks. This location of benches is seperated into 4 patterns according to arranging pattern of water space, a walk, pergola and shelter, greenspace. To investigate the visual preference is examined by analyzing visual volume of 4 patterns. Results are as follows; 1. Factor analysis by the total data showed that 5 factors explain 60.40 percent of total variance of the location of bench visual character. They were classified by the sensitive factor, visual factor, physical-individual factor, distinct factor, density factor. Among 5 factors, the sensitive factor which represented psychological reaction was appreciated to be highest. 2. Most of 20 items showed the following scores of mean values in sementic differential experiment : Spot 1->Spot 4-> 2-> 3. The mean values between arrangement place locational differences showed significantly, that could explain to be a violent contrast between the natural factors(weater space, green space, etc) and the artificial factors (around of pergola, shelter, etc)

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