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Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh

  • Rahman, Muhammad Mizanur;Fatema, Kanij
    • Journal of Genetic Medicine
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    • v.18 no.1
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    • pp.44-47
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    • 2021
  • Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

A New Interpretation of the Compass Gradient Edge Operators (Compass Gradient Edge 연산자의 새로운 해석방법)

  • Park, Rae-Hong;Choi, Woo Young
    • Journal of the Korean Institute of Telematics and Electronics
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    • v.24 no.1
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    • pp.97-101
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    • 1987
  • The edge, a discontinuity or abrupt change in the gray-level or color, is a fundamentally important primitive feature of an image necessary for the image analysis and classification. Two-dimensional 3x3 compass gradient operators (ex. Sobel, Prewitt, and Kirsch operators)are commonly used in the edge detection and usually detect 8 compass directional components. In this paper, we present a new interpretation of the relationships between the resulting 8 gradient magnitudes and the 8 intensity values of neighboring pixels which are covered by the two-dimensional 3x3 mask. It is expected that a new gradient edge operator may be designed by changing the eigenvalues in the transform domain and the fast optical edge operator may be implemented by using the optical system.

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Apoptosis-Induced Gene Profiles of a Myeloma Cell P3-X63-Ag8.653

  • Bahng, Hye-Seung;Chung, Yong-Hoon
    • IMMUNE NETWORK
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    • v.6 no.3
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    • pp.128-137
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    • 2006
  • Background: Apoptosis is a physiologic phenomenon involved in development, elimination of damaged cells, and maintenance of cell homeostasis. Deregulation of apoptosis may cause diseases, such as cancers, immune diseases, and neurodegenerative disorders. The mouse myeloma cell P3-X63-Ag8.653 (v653) is an HGPRT deficient $(HGPRT^-)$ mutant strain. High dependency on de novo transcription and translation of aminopterin induced apoptosis of this cell seems to be an ideal experimental system for searching apoptosis-induced genes. Methods & Results: For searching apoptosis-related genes we carried out GE-array (dot blot), Affymetrix GeneChip analysis, Northern analysis and differential display-PCR techniques. The chip data were analyzed with three different programs. 66 genes were selected through Affymetrix GeneChip analyses. All genes selected were classified into 8 groups according to their known functions. They were Genes of 1) Cell growth/maintenance/death/enzyme, 2) Cell cycle, 3) Chaperone, 4) Cancer/disease-related genes, 5) Mitochondria, 6) Membrane protein/signal transduction, 7) Nuclear protein/nucleic acid binding/transcription binding and 8) Translation factor. Among these groups number of genes were the largest in the genes of cell growth/maintenance/death/enzyme. Expression signals of most of all groups were peaked at 3 hour of apoptosis except genes of Nuclear protein/nucleic acid binding/transcription factor which showed maximum signal at 1 hour. Conclusion: This study showed induction of wide range of proapoptotic factors which accelerate cell death at various stage of cell death. In addition apoptosis studied in this research can be classified as a type 2 which involves cytochrome c and caspase 9 especially in early stages of death. But It also has progressed to type 1 in late stage of the death process.

Blood Picture of Race Horses in Korea (경주마(競走馬)의 혈액상(血液像)에 관(關)하여)

  • Kim, Tae Jong;Lee, Kang Wook
    • Korean Journal of Veterinary Research
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    • v.14 no.2
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    • pp.179-184
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    • 1974
  • The blood picture of 85 healthy race horses in Korea was investigated. The ranges and mean values of erythrocyte, hemoglobin, hematocrit value, mean corpuscular volume, mean corpuscular hemoglobin concentration, and total white blood cell count in the blood picture were determine. The respective mean value and standard deviation and age differences were as follows: 1. The erythrobyte count was shown as range of 6.20 to $11.32{\times}10^6/mm^3$ with mean of $8.61{\pm}1.92{\times}10^6/mm^3$(SD). The leucocyte count was shown as range 5.0 to $18.0{\times}10^3/mm^3$ with mean of $8.25{\pm}1.51{\times}10^3/mm^3$(SD). There were not significant. differences in age, 2. The mean value of hemoglobin was shown $13.9{\pm}1.7g/100ml(SD)$ ranging 9.8 to 16.8g/100ml. The mean value of hematocrit was shown $40.9{\pm}3.94ml/100ml(SD)$ ranging 26 to 54. There were not significant differences in age. 3. The mean corpuscular hemoglobin was shown as range of 11.8 to 22.2pg with mean of $16.9{\pm}4.69$(SD). The mean corpuscular volume was shown as range of 34.5 to $71.3cu{\mu}$ with mean of $49.0{\pm}7.32cu{\mu}$(SD). The mean corpuscular hemoglobin concentration was shown as range of 30.6 to 39.4 g/100 ml with mean of $34.6{\pm}2.36$(SD). There were not significant differences in age. 4. The correlation among erythrocyte count, hemoglobin and hematocrit value were observed as follows: Erythrocyte count and hemoglobin (+0.328), rythrocyte count and hematocrit vague (+0.319). A linear regression equation was shown as follows: Erythrocyte count and hemoglobin (Y=0.336x+10.977), erythrocyte count and hematocrit value (Y=0.655x+35.274). 5. The high correlation between hemoglobin and hematocrit vague was observed (r= +0.836). A linear regression equation was shown: (Y=1.948x+13.895).

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A Study on the Health Status among the Homeless in Shelters (쉼터 노숙자의 건강상태에 관한 연구)

  • Lyu, Soon-Ja;Park, Hyoung-Sook
    • Research in Community and Public Health Nursing
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    • v.15 no.4
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    • pp.655-665
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    • 2004
  • Purpose: This study was aimed to investigate the physical and psychological health status of the homeless in shelters, and to suggest the basic data for caring them. Method: Study subjects were 153 homeless people who were registered in the shelters of Dong-gu, Busan, between September 1st, 2003 and March 15th, 2004. Data on their physical health status were collected by measuring weight and height (BMI), taking X-rays (tuberculosis), testing blood (syphilis, glucose, HBsAb and HBsAb). Psychological health status was measured with Rosenberg's self-esteem scale and Beck's depression scale. Data were analyzed with descriptive statistics, $x^2-test$, t-test or F-test using SPSS (Win10.0), at 0=0.05, two tailed test. Results: Mean age was 42.8 years old, high school graduated was 43.8%, and 60.8% didn't have medical benefits. Singles were 47.7%, 34.7% had bad family relationships and 39.2% hoped to live with family, 96.1% had a normal in chest X-ray test, and 96.1% had negative syphilis test 92.2% were negative for hepatitis antigen, 51.0% were antibody, 25.5% had hypertension, and 60.8% had a normal BMI test, and 84.3% had a normal blood sugar test. 39.2% were severely depressed, and 75.8% had a normal self-esteem level. Conclusion: Physical health status of the homeless was relatively good. However, depression levels were high and self-esteem was low. Therefore, it is necessary to take an action to improve the psychological health status for the homeless.

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Micro-computed tomographic evaluation of single-cone obturation with three sealers

  • Sahar Zare;Ivy Shen;Qiang Zhu;Chul Ahn;Carolyn Primus;Takashi Komabayashi
    • Restorative Dentistry and Endodontics
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    • v.46 no.2
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    • pp.25.1-25.12
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    • 2021
  • Objectives: This study used micro-computed tomography (µCT) to compare voids and interfaces in single-cone obturation among AH Plus, EndoSequence BC, and prototype surface pre-reacted glass ionomer (S-PRG) sealers and to determine the percentage of sealer contact at the dentin and gutta-percha (GP) interfaces. Materials and Methods: Fifteen single-rooted human teeth were shaped using ProTaper NEXT size X5 rotary files using 2.5% NaOCl irrigation. Roots were obturated with a single-cone ProTaper NEXT GP point X5 with AH Plus, EndoSequence BC, or prototype S-PRG sealer (n = 5/group). Results: The volumes of GP, sealer, and voids were measured in the region of 0-2, 2-4, 4-6, and 6-8 mm from the apex, using image analysis of sagittal µCT scans. GP volume percentages were: AH Plus (75.5%), EndoSequence BC (87.3%), and prototype S-PRG (94.4%). Sealer volume percentages were less: AH Plus (14.3%), EndoSequence BC (6.8%), and prototype S-PRG (4.6%). Void percentages were AH Plus (10.1%), EndoSequence BC (5.9%), and prototype S-PRG (1.0%). Dentin-sealer contact ratios of AH Plus, EndoSequence BC, and prototype S-PRG groups were 82.4% ± 6.8%, 71.6% ± 25.3%, and 70.2% ± 9.4%, respectively. GP-sealer contact ratios of AH Plus, EndoSequence BC, and prototype S-PRG groups were 65.6% ± 29.1%, 80.7% ± 25.8%, and 87.0% ± 8.6%, respectively. Conclusions: Prototype S-PRG sealer created a low-void obturation, similar to EndoSequence BC sealer with similar dentin-sealer contact (> 70%) and GP-sealer contact (> 80%). Prototype S-PRG sealer presented comparable filling quality to EndoSequence BC sealer.

A Study on the Visual Interpretation of the Clothing Image as Clothing m Form and Dot Space Variation. (의복형태와 물방울무늬 공간변화에 따른 이미지의 시각적 평가)

  • 문삼련;이경희
    • Journal of the Korean Society of Clothing and Textiles
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    • v.18 no.1
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    • pp.3-14
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    • 1994
  • This study is intended to identify the clothing mage as clothing form and dot space variation. This study consists of pre-experiment for setting the space between dot which shows the difference of the image and main experiment and also is made of factorial design for two variables-clothing form(H-line, A-line, V-line, X-line) dot (dot 1.0, dot 2.2, dot 3.4, dot 5.8) Qestionaire consists of 21 semantic differential scale expressing clothing form and .dot. Data is obtained from 50 female students maforing clothing and textile. The results of this study are as follows. 1) The image by the clothing form and the space dot variation is composed 5 factors' attention, activity, attraction, maturity, boldness. 2) The image by variation in clothing form dot has significant differences in attractive and attention factors, especially shows remarkable differences in attention. By choosing narrow space dot for attentive image, broden space dot for attractive image, you would be able to create the image you want. 3) The image by variation in dot clothing form has almost signific and differences in all factors, especially shows remarkable differences in activity. By choosing A-line for active image, V-line for mature and fashionable image, X-line for attractive, pretty and delicate mage, you would be able to create the image you want. 4) The interaction effect between clothing form and space dot was in attraction and maturity factor, V-line, X-line, dot 3.4 and dot 5.8 intensify attractive image, V-line and dot 1.0 mature image, X-line and dot 5.8 young image.

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Direct Evidence for the Radioprotective Effect of Various Carbohydrates on Plasmid DNA and Escherichia coli Cells

  • Ryu, Hwa-Ja;Yi, Kyung-Eun;Kim, Do-Won;Jung, Yun-Dae;Chang, Suk-Sang;Seo, Eun-Seong;Lee, Ki-Young;Marceau-Day, M.L.;Kim, Do-Man
    • Journal of Microbiology and Biotechnology
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    • v.12 no.4
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    • pp.598-602
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    • 2002
  • Damage to cells exposed to radiation is primarily attributed to direct effects on the structure of cellular DNA. Radiation-induced damage of pBluescript SK plasmid DNA and Escherichia coli $DH5\alpha$ were examined in the presence of various branched oligosaccharides, polysaccharides, and/or 8-MOP (8-methoxypsoralen). Branched oligosaccharides efficiently protected DNA and cells exposed to ultrasoft X-ray and UV irradiation. In the presence of 0.2% (w/v) branched oligosaccharides and polysaccharides, DNA can be protected from damage due to W and ultrasoft X-ray by a factor of 1.3-2.1 fo1d and 3.2-8.3 fold, respectively. The protective effect of cells exposed to UV or ultrasoft X-ray was also observed by branched oligosaccharides. The combination of MOP, a photoreagent, with carbohydrates increased the protective effects for DNA and cells, compared with that of a single use of MOP or carbohydrate alone.

Microstructural properties of Pt-doped $YBa_{2}Cu_{3}O_{7-x}$ high $T_c$ superconductor prepared by melting method.

  • Song, Jin-Tae
    • Proceedings of the Materials Research Society of Korea Conference
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    • 1992.05a
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    • pp.16-16
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    • 1992
  • We have studied the effect of platinum addition on the supercon ducting properties of YB $a_2$C $u_3$$O_{7-x}$ (123) compound and elucidated the mechanism of fine dispersion of $Y_2$BaCu $O_{5}$(211) particles in YB $a_2$C $u_3$$O_{7-x}$ superconductor prepared by melting method from the metallurgical point of view. In this study, BaCu $O_2$ and CuO-rich phase unreacted during the peritecitc reaction markedly decreased by the 211 powder addition. The 211 particle of Pt-fee sintered samples exhibited 8~10$\mu$m in size, but in 1wt%Pt-added sample, 211 particles were finely dispersed in 123 matrix and the size of 211 particle was about 1~2$\mu$m. And, the critical temperature( $T_{c. zero}$) of Pt doped samples was 91.5K and the transport critical current density ( $J_{c}$) of Pt-doped samples was much more than 10$^4$A/$\textrm{cm}^2$. The high $J_{c}$ and fine dispersion of 211 particles of Pt doped YB $a_2$C $u_3$$O_{7-x}$ superconductor are attributed to $Ba_4$CuP $t_2$ $O_{8}$ compounds formed during the partial melting, which were considered als nucleation sites of 211 particles, rather than Pt inself.han Pt inself.

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A Study on Synthesis of $La_{x}Sr_{1-x}GaO_{3}$ Electrode Material for High Temperature Steam Electrolysis (고온 수증기 전해용 $La_{x}Sr_{1-x}GaO_{3}$ 전극 재료의 합성 연구)

  • Park, Mi-Sun;Ryu, Si-Ok;Woo, Sang-Kook;Park, Young-Tae;Choi, Ho-Sang
    • Journal of Hydrogen and New Energy
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    • v.20 no.5
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    • pp.432-438
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    • 2009
  • In this paper, we synthesized LSG powder by Modified-GNP method. Lanthanum, strontium and gallium (LSG) were selected in the preparation of an oxygen-electrode (anode) for High Temperature Steam Electrolysis system (HTSE). The used amount and concentration of nitric acid were varied to find out an appropriate composition for oxygen-electrode (anode). In order to optimize the molar ratio of La and Sr, ratio of La to Sr was varied that 2:8, 5:5 and 8:2. The combined LSGs were calcined for 2 hours at $700^{\circ}C$ and were sintered in a furnace for 4 hours at $1200^{\circ}C$. The phase and crystallinity of LSG powder were determined by XRD. The surface morphology was observed through SEM photograph, and the specific surface area was investigated with BET. The thermochemical property was determined by TG/DTA. The synthesized preparation was obtained of $La_{0.8}Sr_{0.2}GaO_{3}$ formula for 3M nitric acid, which was the best perovskite phase.