• Title/Summary/Keyword: Retardation Length

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A case of de novo duplication of 15q24-q26.3

  • Kim, Eun-Young;Kim, Yu-Kyong;Kim, Mi-Kyoung;Jung, Ji-Mi;Jeon, Ga-Won;Kim, Hye-Ran;Sin, Jong-Beom
    • Clinical and Experimental Pediatrics
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    • v.54 no.6
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    • pp.267-271
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    • 2011
  • Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

Degradation Behavior of Nylon 4 in the Presence of Newly Synthesized Thermal Stabilizers (합성 열안정제에 의한 나일론 4의 분해거동)

  • Jang, Geunseok;Kim, Jongho;Kim, Daigeun;Kim, Young Jun;Lee, Taek Seung
    • Polymer(Korea)
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    • v.38 no.3
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    • pp.314-319
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    • 2014
  • Three kinds of thermal stabilizers for nylon 4 were synthesized to incorporate both hindered amine groups and methylene units with various lengths. It is expected that the hindered amine groups play a role in the capture of degradation-triggering species. Considering sequence rules, hydrogen bonding formed between nylon 4 and the stabilizers is optimized to alter the lengths of the methylene units in the stabilizers. As a result, it was found that a tetramethylene unit in the stabilizer is an optimal length for hydrogen bonding in terms of isothermal thermogravimetric analysis (TGA). Considering the slight and often negligible improvement of thermal stability of nylon 4 containing commercially-available nylon 6 stabilizers, retardation of thermal degradation has been substantially improved upon.

Rat Malonyl-CoA Decarboxylase; Cloning, Expression in E. coli and its Biochemical Characterization

  • Lee, Gha-Young;Bahk, Young-Yil;Kim, Yu-Sam
    • BMB Reports
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    • v.35 no.2
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    • pp.213-219
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    • 2002
  • Malonyl-CoA decarboxylase (E.C.4.1.1.9) catalyzes the conversion of malonyl-CoA to acetyl-CoA. Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. Here, we isolated a cDNA clone for malonyl CoA decarboxylase from a rat brain cDNA library, expressed it in E. coli, and characterized its biochemical properties. The full-length cDNA contained a single open-reading frame that encoded 491 amino acid residues with a calculated molecular weight of 54, 762 Da. Its deduced amino acid sequence revealed a 65.6% identity to that from the goose uropigial gland. The sequence of the first 38 amino acids represents a putative mitochondrial targeting sequence, and the last 3 amino acid sequences (SKL) represent peroxisomal targeting ones. The expression of malonyl CoA decarboxylase was observed over a wide range of tissues as a single transcript of 2.0 kb in size. The recombinant protein that was expressed in E. coli was used to characterize the biochemical properties, which showed a typical Michaelis-Menten substrate saturation pattern. The $K_m$ and $V_{max}$ were calculated to be $68\;{\mu}M$ and $42.6\;{\mu}mol/min/mg$, respectively.

Regulation of retinal angiogenesis by endothelial nitric oxide synthase signaling pathway

  • Ha, Jung Min;Jin, Seo Yeon;Lee, Hye Sun;Shin, Hwa Kyoung;Lee, Dong Hyung;Song, Sang Heon;Kim, Chi Dae;Bae, Sun Sik
    • The Korean Journal of Physiology and Pharmacology
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    • v.20 no.5
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    • pp.533-538
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    • 2016
  • Angiogenesis plays an essential role in embryo development, tissue repair, inflammatory diseases, and tumor growth. In the present study, we showed that endothelial nitric oxide synthase (eNOS) regulates retinal angiogenesis. Mice that lack eNOS showed growth retardation, and retinal vessel development was significantly delayed. In addition, the number of tip cells and filopodia length were significantly reduced in mice lacking eNOS. Retinal endothelial cell proliferation was significantly blocked in mice lacking eNOS, and EMG-2-induced endothelial cell sprouting was significantly reduced in aortic vessels isolated from eNOS-deficient mice. Finally, pericyte recruitment to endothelial cells and vascular smooth muscle cell coverage to blood vessels were attenuated in mice lacking eNOS. Taken together, we suggest that the endothelial cell function and blood vessel maturation are regulated by eNOS during retinal angiogenesis.

Flame Retardancy and Physical Properties of Polyurethane Foam with Expandable Graphite (팽창 흑연을 포함한 폴리우레탄 폼의 난연 및 물성 변화 연구)

  • Bae, Sung-Jun;Park, Ji-Hyeon;Go, Jae-Wang;Choi, Pil-Jun;Lee, Jae-Yeon;Sur, Suk-Hun
    • Journal of Adhesion and Interface
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    • v.20 no.3
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    • pp.96-101
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    • 2019
  • In this study, the flame retardant and physical properties of the expandable graphite/polyurethane foam composites were considered by the addition of expandable graphite. The tensile strength of expandable graphite/polyurethane foam composites decreased with the content of the expandable graphite and the analysis of cell shape by SEM has shown that as the expandable graphite content increases, the cell becomes uneven and collapses. As the results of the compressive strength, density and air permeability tests, it was found that density and as the content of the expandable graphite increased, the compressive strength of the composites increased but air permeability decreased. When the amount of expandable graphite was added at 10 phr or higher, the foam has excellent flame retardation performance. Analysis of the degree of diffraction by X-ray diffraction (XRD) showed that as the content of the expandable graphite increased, the crystal peak of the graphite appeared near $2{\theta}=26^{\circ}$.

Isolation and Chemical Structure Identification of Allelopathic Substances from the Ginkgo(Ginkgo biloba L.) Leaf Waste Produced by Phamaceutical Process (제약폐기 은행잎중에 함유된 식물생육억제물질 분리동정)

  • Seong, Ki-Seog;Kim, Bok-Jin;Kwon, Oh-Kyung;Choi, Du-Hoi
    • Korean Journal of Soil Science and Fertilizer
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    • v.30 no.4
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    • pp.377-383
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    • 1997
  • Studies were conducted on the nature of allelopathic effect of the substances in the waste of ginkgo leaves from pharmaceutic factory. In the first step, to find out whether there was any allelophatic effect, young seedlings of radish and rice were grown in the water (crude) extract of ginkgo leaf waste and in different liquid/lquid partitioned fractions of EtOAc at pH 9, EtOAc at pH 3, and BuOH. As second step, attempts were made to isolate and identify the allelophatic substance in different liquid/liquid partitioned fractions using GC/MS and NMR techniques. The water (crude) extract of ginkgo leaf waste retarded the growth of radish seedlings under 10% concentration. In case of rice seedlings, the water extract of ginkgo leaf extract showed adverse effect on the growth when combined with $3.3{\times}10^{-6}M$ gibberellin A3. All of the liquid/liquid fractions of crude extract showed strong retardation of seedling growth of radish and rice at the concentration of 1%. Allelophatic substance was isolated from the crude extract using liquid/liquid partition, column chromatography and HPLC techniques. The analytical results of isolated componet using GC/MS and NMR proved that the allelophatic substance in the ginkgo leaf wastes is catechol; one of phenol compounds. Based on the experiences current study, a practical method for the testing of allelophatic effect of crude extract of some materials was proposed. In this method, rice seeds were allowed to sprout until the length of coleoptile to reach 0.5 mm. Such seedlings were submerged in the solution containing supposedly allelophatic substance and the length of shoot and root was measured 3 days after treatment.

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Characters of Fracture-filling Minerals in the KURT and Their Significance (한국원자력 연구원 지하처분연구시설(KURT)의 단열충전광물 특성과 그 의미)

  • Lee, Seung-Yeop;Baik, Min-Hoon
    • Journal of the Mineralogical Society of Korea
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    • v.20 no.3
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    • pp.165-173
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    • 2007
  • The KAERI Underground Research Tunnel (KURT) located in KAERI (Korea Atomic Energy Research Institute) was recently constructed following the site investigation in 2003. Its dimension is 180 m in length, 6 m in width, and 6 m in height, and it has a horseshoe-like cross-sec-lion and is located in the ground to the depth of 90 m. When the tunnel was dug into the ground with 100 m in length, fresh rocks, weathered rocks and fracture-filling materials were taken and examined by mineralogical and chemical analyses. There are phyllosilicate minerals such as illite, smectite and chlorite including calcite, which are filling some faults and cracks of the KURT rock. The illite and smectite usually coexist in the fracture, where their content ratio is different according to which mineral is predominant. There are high concentrations of U and Th in the rocks coated with iron-oxides and filled with secondary materials as compared with those in the fresh rocks. It seems that the radionuclides, which are slowly leached from the parent rocks or exist as a dissolved form in the groundwater and hydrothermal solution, may have been migrated along the fractures and thereafter selectively sorbed and coprecipitated on the iron-oxides and the fracture-filling materials. These results will be very useful far the evaluation of environmental factors affecting the nuclides migration and retardation when long-term safety is considered to the geological disposal of high-level radioactive wastes in the future.

Effects of Oligosaccharide and Pseudomonas sp. on the Growth of Potted Kalanchoe During Summer Season (천연올리고당 및 Pseudomonas속 길항미생물의 단독 및 혼용처리가 고온기 칼랑코에 생육촉진에 미치는 영향)

  • Kim, Seong-Ja;Han, Tae-Ho;Chung, Soon Ju
    • Journal of Bio-Environment Control
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    • v.12 no.4
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    • pp.207-216
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    • 2003
  • Most severe problem in production of potted kalanchoe during summer season is retardation of growth caused by high temperature. The aim of this experiment was aimed to investigate the effects of natural products such as algin-oligosacchride and glucosamine oligosaccharide, plant growth promoting rhizovacteria such as Pseudomonas sp. B and Pseudomonas sp. D2, and AG-solution on the growth of potted kalanchoe under the different root zone temperature in the greenhouse. Growth characteristics in terms of plant height, leaf length, leaf width, leaf area, leaf weight, fresh weight of shoot and root and root length were recorded under three root zone temperatures (25$^{\circ}C$, 30$^{\circ}C$, 35$^{\circ}C$). In 25$^{\circ}C$, the mixed treatment of Pseudomonas sp. B and glucosamine oligosaccharide resulted in the best growth in terms of plant height, leaf area and root weight. In 3-$^{\circ}C$, glucosamine oligosaccharide treatment gave fair result in plant height and leaf weight, but the mixed treatemtn of Pseudomonas sp. D2 and algin-oligosaccharide showed better growth on leaf area and root weight. In 35$^{\circ}C$, the mixed treatment of Pseudomonas sp. B and glucosamine oligosaccharide could greatly improve the plant height, leaf area, leaf weight and root weight. These results demonstrated that the mixed treatment of natural products and microorganisms could overcome the detrimental effects caused by high temeprature in the production of kalanchoe.

Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) (메틸화 특이 PCR로 진단된 거설증을 동반한 일과성 신생아 당뇨병)

  • Jin, Hye Young;Choi, Jin-Ho;Kim, Gu-Hwan;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.53 no.3
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    • pp.432-436
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    • 2010
  • Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old female infant was admitted to the hospital because of macroglossia and recurrent hyperglycemia. In addition to the macroglossia, she also presented with large fontanelles, micrognathia, and prominent eyes. Serum glucose levels were 200-00 mg/dL and they improved spontaneously 2 days after admission. To identify the presence of a maternal methylated allele, bisulfite-treated genomic DNA from peripheral blood was prepared and digested with BssHII after polymerase chain reaction (PCR) amplification with methylation-specific HYMAI primers. PCR and restriction fragment length polymorphism analysis showed that the patient had only the paternal origin of the HYMA1 gene. TNDM is associated with a methylation defect in chromosome 6, suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype.

Analysis of anthropometric data for premature infants of 26 to 35 weeks of gestation; comparison with the data of 1960's (재태연령 26주 이상 35주 이하 미숙아의 신체계측치의 분석; 1960년대 측정치와의 비교)

  • Aum, Ji A;Jung, Hee Jin;Huh, Jae Won;Son, Sang Hee
    • Clinical and Experimental Pediatrics
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    • v.50 no.6
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    • pp.543-548
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    • 2007
  • Purpose : The anthropometric data of newborns published by Lubchenco et al in the 1960's have been most commonly used in Korea as a standard of newborn growth. We hypothesized that Lubchenco's data have limitations for Korean premature infants born in the 2000's. We analyzed and compared the data of birth weight, length, and head circumference. Methods : The medical records of 1,159 premature infants of 26 to 35 weeks of gestational age born at Il-Sin Christian Hospital of Busan from January 2,000 to August 2,006 were reviewed. The anthropometric data from total 1,010 premature infants were analyzed after excluding the data from infants whose gestational age were estimated by other than ultrasonogram, and infants with major congenital anomalies or chromosomal anomaly, born from foreign parent, and extreme outliers. Results : In the birth weights by gestational age, our 90 percentile values were lower than Lubchenco's 90 percentile values for all gestational age studied, particularly for less than 30 weeks the 90 percentile curve was drawn at the area as that of Lubchenco' 75 percentile. And our 10 percentile values were higher than Lubchenco's 10 percentile values for all gestational age studied. In the birth length and head circumference by gestational age, our 90 percentile values were lower than Lubchenco's 90 percentile values for all gestational age studied, and the 90 percentile curve was drawn at the area as that of Lubchenco's 75 percentile. And our 10 percentile values were higher than Lubchenco's 10 percentile values for all gestational age studied. Conclusion : It is unreasonable to apply Lubchenco's data published before 4th decades to present Korean premature infants and have a risk to underestimate intrauterine growth retardation or small for gestational age and large for gestational age. Considering for the possibility of increasing the mortality and morbidity of premature infants due to delayed diagnosis and treatment by these underestimating, our anthropometric data of premature infant is expected to contribute to lower the mortality and morbidity of premature infants.