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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

  • Lee, Jin Hwan;Kim, Hyo Jeong;Yoon, Jung Min;Cheon, Eun Jung;Lim, Jae Woo;Ko, Kyong Og;Lee, Gyung Min
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.19-24
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    • 2016
  • Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

INTRODUCTION TO THE COMS METEOROLOGICAL DATA PROCESSING SYSTEM

  • Ahn Myoung-Hwan;Seo Eun-Jin;Chung Chu-Yong;Sohn Byung-Ju;Suh Myoung-Seok;Oh Milim
    • Proceedings of the KSRS Conference
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    • 2005.10a
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    • pp.95-97
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    • 2005
  • Communication, Ocean, and Meteorological Satellite (COMS) to be launched in year 2008 will be the first Korean multi-purpose geostationary satellite aiming at three major missions, i.e.: communication, ocean, and meteorological applications. The development of systems for the meteorological mission sponsored by the Korea Meteorological Administration (KMA) consists of payloads, ground system, and data processing system. The program called COMS Meteorological Data Processing System (CMDPS) has been initiated for the development of data processing system. The primary objective ofCMDPS is to derive the level-2 environmental products from geo-Iocated and calibrated level 1.5 COMS data. Preliminary design for the level-2 data processing system consists of 16 baseline products and will be refined by end of 3rd project year. Also considered for the development are the necessary initial information such as land use and digital elevation map, algorithms for the vicarious calibration and procedures for the calibration monitoring, and radiative transfer model. Here, we briefly introduce the overall development strategy, flow chart for the intended baseline products, a few preliminary algorithm results and future plans.

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Experimental research on 2 stage GM-type pulse tube refrigerator for cryopump

  • Park, Seong-Je;Ko, Jun-Seok;Hong, Yong-Ju;Kim, Hyo-Bong;Yeom, Han-Kil;Koh, Deuk-Yong
    • Progress in Superconductivity and Cryogenics
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    • v.12 no.2
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    • pp.29-33
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    • 2010
  • The experimental results of the 2 stage Gifford-McMahon(GM) type pulse tube refrigerator (PTR) or cryopump are presented in this paper. The objectives of his study are to develop design technology of the integral type 2 stage PTR which rotary valve is directly connected to he hot end of the regenerator and acquire its improved performance. Design of the 2 stage PTR is conducted by FZKPTR(Forschungs Zentrum Karlsruhe Pulse Tube Refrigerator) program for the design of pulse tube refrigerators. The fabricated PTR has U-type configuration and incorporates orifice valve, double-inlet valve and reservoir as phase control mechanism. Rotary valve is used to make pulsating pressure and is directly connected to inlet of $1^{st}$ stage regenerator. From experiments, cooling performance map and pressure waveform at each point were measured for different operating frequencies. Experimental results show the best cooling performance with 2 Hz operation in spite of small pressure amplitude. The lowest temperatures of the 2 stage PTR were 16.9 K at the second stage and 58.0 K at the first stage. The cooling capacities achieved were 14.4 W at 79 K, the first stage and 3.6 W at 29 K, the second stage.

Effects of Melatonin on Gene Expression of IVM/IVF Porcine Embryos

  • Jang, H.Y.;Kong, H.S.;Choi, K.D.;Jeon, G.J.;Yang, B.K.;Lee, C.K.;Lee, H.K.
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.1
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    • pp.17-21
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    • 2005
  • The effect of melatonin on in vitro embryo development and the expression of antioxidant enzyme gene in preimplantation porcine embryos was determined by modified semi-quantitative single cell RT-PCR. Porcine embryos derived from in vitro maturation /in vitro fertilization were cultured in 5% $CO_2$ and 20% $O_2$ at $37^{\circ}C$ in NCSU23 medium. Melatonin was added to medium at concentration of 1nM, 5 nM, and 10 nM. When treated with 1nM (39.0%) of melatonin, the developmental rate of embryos beyond the morula stage were higher than that of control group (31.0%) (p<0.05). Number of inner cell mass and tropectoderm cell in control (23.0${\pm}$0.5 and 17.3${\pm}$0.8), 1 nM (23.6${\pm}$0.6 and 19.0${\pm}$0.5), and 5 nM (23.3${\pm}$1.1 and 16.3${\pm}$0.8) treated with melatonin were higher than in 10 nM (20.0${\pm}$0.5 and 13.3${\pm}$0.8) treated with melatonin (p<0.05). To develop an mRNA phenotypic map for the expression of catalase, bax and caspase-3, single cell RT-PCR analysis were carried out in porcine IVM/IVF embryo. Catalase was detected in 0, 1 and 5 nM supplemented with melatonin, but bax and caspase-3 were detected in 10 nM treated with melatonin.

Clinical study for inspection of face color and tongue state on Weak Children (허약(虛弱)을 주소(主訴)로 내원한 환아(患兒)의 임상적 특징과 진단법(診斷法)에 관한 연구 -안색(顔色)과 설진(舌診)을 중심으로-)

  • Yu, Sun-Ae;Lee, Seung-Yeun
    • The Journal of Pediatrics of Korean Medicine
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    • v.16 no.2
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    • pp.23-37
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    • 2002
  • We have plenty of study of adults diseases, but not much has been said about children. 79 children who had visited in the weak children of Dongeui Oriental Medical Hospital from March, 2002 to October, 2002, were the respondents of the Weak Child Questionnaire. The results obtained were as follows: 1. Their symptoms have been observed with sequences of respiratory diseases, Digestive diseases, Psycho-neurological diseases. 2. Distribution of sex and ages : male 38 cases, female 41 cases. $0{\sim}6$ years 60 cases, $7{\sim}12$ years 17 cases, $13{\sim}18$ years 2 cases. 3. The texture of complexion was resulted in face color and the region of the face : whitish-2/ cases. yellowish-27 cases, darkish-22 cases, blue-2 cases, flushed face-l case. Sangeun(山根)-blue : 59 cases, a lower eyelid- dark or light brown : 54 cases. the rests of color on face region didn't mean. 4. The texture of tongue was ended in tongue state : tongue form-not plump not haggard patten(57 cases), a pricky patten(12), a map patten(7), a fissured patten(3). tongue color- pink (57 cases), red(16), light white(6). coating color- thin white(61 cases), thin yellow(l0), lack(6), deep and white(2). tongue coating substance-thin(72 cases), moisten(5), dry(1), deep(1).

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Navel Area Detection Based on Body Structure (신체의 구조를 기반으로 하는 배꼽 영역 검출)

  • Jang, Seok-Woo;Huh, Moon-Haeng
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.16 no.3
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    • pp.2185-2191
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    • 2015
  • With the advance of the environment where we can get various multimedia contents, adult image detection has become an important issue these days. In this paper, we suggest a method of robustly detecting navel areas from input images which can be usefully utilized in adult image detection. The suggested algorithm first extracts face regions and extracts candidate nipple areas using a nipple map. Our method then selects only actual nipple regions by filtering candidate areas with geometrical features and an average nipple filter. Subsequently, the method robustly detects navel areas by using the structural relation with the nipple areas and applying edge and saturation images. Experimental results show that the suggested algorithm can effectively detect navel regions.

Estimating Method of Topographic Factor of Design Wind Speed Using GIS (GIS를 이용한 지형에 의한 풍속할증계수 산정 방법)

  • Choi, Se-Hyu;Seo, Eun-Su
    • Journal of the Korean Association of Geographic Information Studies
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    • v.16 no.3
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    • pp.126-135
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    • 2013
  • With more than 70% of the country consisting of mountains, Korea has large and small mountains, and hills located in the inner cities. Therefore, Korea's architectural structure laws stipulate that an increase in wind speed due to the influence of terrain should be considered in the design of wind loads of buildings. But if more than two mountains are located around the building or if the boundaries of the land surface are not clear when calculating topographic factors of wind speed, the designer has subjectively selected the coverage of the topographic factors of wind speed or the surface. This may lead to unscientific design of wind loads. This study attempts to analyze topographic factors of wind speed by using a 1:5000 topographic map with relatively high location accuracy and thereby to reflect changes due to the topographic characteristics and influence at the point where the building is located. By also selecting terrain surfaces and vertexes through Arc GIS and presenting a scientific approach to determine the range of topographic factors of wind speed, this study is expected to make a contribution for more rational and cost-effective wind-resistant design of buildings.

Free-Form Surface Reconstruction Method from Second-Derivative Data (형상이차미분을 이용한 자유곡면 형상복원법)

  • Kim, Byoung Chang;Kim, DaeWook;Kim, GeonHee
    • Korean Journal of Optics and Photonics
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    • v.25 no.5
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    • pp.273-278
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    • 2014
  • We present an algorithm for surface reconstruction from the second-derivative data for free-form aspherics, which uses a subaperture scanning system that measures the local surface profile and determines the three second-derivative values at those local sampling points across the free-form surface. The three second-derivative data were integrated to get a map of x- and y-slopes, which went through a second Southwell integration step to reconstruct the surface profile. A synthetic free-form surface 200 mm in diameter was simulated. The simulation results show that the reconstruction error is 19 nm RMS residual difference. Finally, the sensitivity to noise is diagnosed for second-derivative Gaussian random noise with a signal to noise ratio (SNR) of 16, the simulation results proving that the suggested method is robust to noise.

Effective Dose Evaluation using Clinical PET/CT Acquisition Protocols (전신 PET/CT 영상 획득 프로토콜을 이용한 유효선량 평가)

  • Nam, So-Ra;Son, Hye-Kyung;Lee, Sang-Hoon;Lee, Chang-Lae;Cho, Hyo-Min;Kim, Hee-Joung
    • Progress in Medical Physics
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    • v.17 no.3
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    • pp.173-178
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    • 2006
  • The purpose of this study was to evaluate the radiation dose for clinical PET/CT protocols in clinical environments using Alderson phantom and TLDs. Radiation doses were evaluated for both Philips GEMINI 16 slice PET/CT system and GE DSTe 16 slice PET/CT system. Specific organ doses with $^{137}Cs$ transmission scan, high quality CT scan and topogram in philips GEMINI PET/CT system were measured. Specific organ doses with CT scan for attenuation map, CT scan for diagnosis and topogram in GE DSTe PET/CT system were also measured. The organs were selected based on ICRP60 recommendation. The TLDs used for measurements were selected for within an accuracy of ${\pm}5%$ and calibrated in 10 MV X-ray radiation field. The effective doses for $^{137}Cs$ transmission scan, high qualify scan, and topogram in Philips GEMINI PET/CT system were $0.14{\pm}0.950,\;29.49{\pm}1.508\;and\;0.72{\pm}0.032mSv$ respectively. The effective doses for CT scan to make attenuation map, CT scan to diagnose and topogram in GE DSTe PET/CT system were $20.06{\pm}1.003,\;24.83{\pm}0.805\;and\;0.27{\pm}0.008mSv$ respectively. We evaluated the total effective dose by adding effective dose for PET Image. The total PET/CT doses for Philips GEMINI PET/CT (Topogram+$^{137}Cs$ transmission scan+PET, Topogram+high qualify CT+PET) and GE DSTe PET/CT (Topogram +CT for attenuation map+ PET, Topogram+diagnostic CT+ PET) are $7.65{\pm}0.951,\;37.00{\pm}1.508,\;27.12{\pm}1.003\;and\;31.89{\pm}0.805mSv$ respectively. Further study may be needed to be peformed to find optimal PET/CT acquisition protocols for reducing the patient exposure with good image qualify.

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Sulfasalazine Induces Autophagic Cell Death in Oral Cancer Cells via Akt and ERK Pathways

  • Han, Hye-Yeon;Kim, Hyungwoo;Jeong, Sung-Hee;Lim, Do-Seon;Ryu, Mi Heon
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6939-6944
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    • 2014
  • Sulfasalazine (SSZ) is an anti-inflammatory drug that has been used to treat inflammatory bowel disease and rheumatoid arthritis for decades. Recently, some reports have suggested that SSZ also has anti-cancer properties against human tumors. However, little is known about the effects of SSZ on oral cancer. The aim of this study was to investigate the anti-cancer effects of SSZ in oral squamous cell carcinoma (OSCC) cells and to elucidate the mechanisms involved. The authors investigated the anti-proliferative effect of SSZ using the MTT method in HSC-4 cells (an OSCC cell line). Cell cycle analysis, acidic vesicular organelle (AVO) staining, monodansylcadaverine (MDC) staining and Western blotting were also conducted to investigate the cytotoxic mechanism of SSZ. SSZ significantly inhibited the proliferation of HSC-4 cells in a dose-dependent manner. In addition, SSZ induced autophagic cell death, increased microtubule-associated protein 1 light chain (MAP1-LC; also known as LC) 3-II levels, as well as induced punctate AVO and MDC staining, resulted in autophagic cell death. Furthermore, these observations were accompanied by the inhibition of the Akt pathway and the activation of ERK pathway. These results suggest that SSZ promotes autophagic cell death via Akt and ERK pathways and has chemotherapeutic potential for the treatment of oral cancer.