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Comparison of Clinical Features of 11 Korean Patients with Mucolipidosis II and III Including a Case of Mucolipidosis II with a Novel Mutation of GNPTAB (새로운 GNPTAB 유전자 돌연변이로 진단된 뮤코지방증 2형 1례를 포함한 국내 뮤코지방증 환자의 임상적 특징에 대한 분석)

  • Kim, Jinsup;Yang, Misun;Yang, Aram;Cho, Eun Hye;Park, Hyung-Doo;Sohn, Young Bae;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.85-91
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    • 2017
  • Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.

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Effect of Rearing Period on Chemical Composition of Duck Meats (출하 일령이 오리육의 화학적 변화에 미치는 영향)

  • Chae Hyun-Seok;Yoo Young-Mo;Ahn Chong-Nam;Kim Dong-Hun;Ham Jun-Sang;Jeong Seok-Keun;Lee Jong-Moon;Choi Yang-Il
    • Food Science of Animal Resources
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    • v.26 no.1
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    • pp.9-14
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    • 2006
  • The aim of this study was to determine the chemical traits of duck meats with different rearing periods(45 70 days). The content of protein was 21.3 and 19.61% in the breast and leg at 70 days post hatched, respectively. Group at 70 days showed high protein composition than those of 45 days group. The content of fat was slightly increased with the rearing periods. The composition of Ca, mineral compound, was not showed the difference between leg and breast meat. However, it was increased with the rearing periods. The composition of Fe was not significantly different in the breast meat. However, there was a significant increase in the leg (p<0.05). It was compared 14.6 ppm at 45 days group to 27.5 ppm at 70 days group. The content of methionine was significantly increased in the breasts due to the increasing rearing periods (p<0.05), but not in leg meat. There was no significant difference between parts, but glutamic acid content was significantly decreased along with the increasing rearing periods (p<0.05). The content of collagen at 70 days(0.77 g/100 g) was higher than those of 45 days(0.65 g/100 g). It was affected by the rearing periods In the wing-removed skit, it was 0.15 g increases at 70 rearing period group. The cholesterol content was significantly increased in the leg but not in the breast. With the rearing periods, it was significantly increased in the leg (p<0.05).

Phytotoxicity Inducing Factors and Its Safening Methods for Benzenesulfonylurea Compound KSC-13906 (Benzenesulfonylurea계 화합물(化合物) KSC-13906의 약해발생요인(藥害發生要因) 및 경감방법(輕減方法))

  • Hwang, I.T.;Choi, J.S.;Hong, K.S.;Yoo, J.H.;Kim, J.S.;Cho, K.Y.
    • Korean Journal of Weed Science
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    • v.18 no.3
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    • pp.225-236
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    • 1998
  • KSC-13906 [Erythro N-{(4,6-dimethoxypyrimidin-2-yl)aminocarbonyl} -2-(2-fluoro-1-hydroxy-n-propyl) benzenesulfonamide, US Patent 5,461,025] was investigated how can control phytotoxicity fluctuation and what a good method apply to new rice herbicide. The growth inhibition was observed when the rice plants was transplanted at a shallow depth(0 - 1cm) and leaching was low(0 - 1cm/ day) from the paddy soil. KSC-13906 appeared to move readily down into the paddy soil with water by 3cm depth in the soil column(${\phi}$ 10cm) filled with loamy sand soil under 3cm/day of leaching condition. Artificial control releasing pattern, designed as treated with KSC-13906 of 9 or 18g ai/ha either at a once or daily treated dividing volume of 1/20, 1/25 and 1/30 of the total volume, increased the safety of KSC-13906 to direct seeded and transplanted rice. The safety of KSC-13906 was also enhanced when KSC-13906 was mixed with dymron. For example, the mixture of KSC-13906 and dymron effectively reduced injury of direct seeded rice plants at 18 and 500g ai/ha, respectively, treated 7 days after transplanting. However, combination of KSC-13906 and several herbicides didn't show any synergistic effetct on herbicidal activity and safening effect on rice. However, the combination of KSC-13906+dymron (9~12+250~500g ai/ha) or KSC-13906+mefenacet+dymron(9+250+250g ai/ha) controlled almost all weeds in paddy field without causing any injury to rice and thus the combination would successfully be used as an oneshot herbicide in rice culture.

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Effect of Pine (Pinus densiflora) Needle Hot Water Extract on Antioxidant Activity in Rats Treated with Carbon Tetrachloride (적송잎 열수 추출물이 사염화탄소를 투여한 흰쥐의 항산화 활성에 미치는 영향)

  • Park, Yong-Soo;Park, Mi-Ra;Jeon, Min-Hee;Hwang, Hyun-Jung;Kang, Min-Suk;Kim, Bo-Kyung;Kim, Sung-Gu;Lee, Sang-Hyeon;Kim, Mi-Hyang
    • Journal of Life Science
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    • v.21 no.4
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    • pp.604-609
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    • 2011
  • Pine (pinus densiflora) needles have long been used as a traditional health-promoting medicinal food in Korea. This study was conducted to investigate the effects of pine needle extracts on the hepatic antioxidant system in the damaged liver of carbon tetrachloride ($CCl_4$)-treated rats. Nine-week-old Sprague Dawley rats were divided into four groups: normal group (NOR), $CCl_4$-treated group (CCL), pine needle hot water extract and $CCl_4$-treated group (CCL-P), and Vitamin C and $CCl_4$-treated group (CCL-V). The enzyme activities and antioxidant effects of the pine needle hot water extracts were investigated at the levels of liver homogenates and serum of rats intoxicated with $CCl_4$. Serum GOT and GPT activities by $CCl_4$ treatment increased compared to those of the NOR group. However, they tended to decrease in the hot water extract-administered group. Liver SOD activity in the CCL group was significantly lower than the NOR group (p<0.05). However, they increased in the CCL-P group compared to the CCL group. Further, the CAT and GPx activities of serum treated with $CCl_4$ were higher compared to those of the NOR group but lower in the CCL-P group compared to CCL group. These results suggest that pine needle hot water extract increases antioxidant activities.

Antioxidant Activity of Leaf, Stem and Root Extracts from Orostachys japonicus and Their Heat and pH Stabilities (와송(Orostachys japonicus) 잎, 줄기 및 뿌리 추출물의 항산화활성과 열 및 pH 안정성)

  • Lee, So-Jeong;Song, Eu-Jin;Lee, So-Young;Kim, Kotch-Bong-Woo-Ri;Kim, Seo-Jin;Yoon, So-Young;Lee, Chung-Jo;Ahn, Dong-Hyun
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.38 no.11
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    • pp.1571-1579
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    • 2009
  • Antioxidant activities of ethanol and water extracts from Orostachys japonicus leaf, stem, and root were determined by rancimat method, DPPH radical scavenging effect, chelating effect, and reducing power analysis. The highest total phenolic compound (TPC) as 14.6 mg/g of dry sample and the strongest antioxidant activity in rancimat method (value of AI 1.98), DPPH radical scavenging effect (96% in 4 mg/mL), and reducing power (1.50 in 4 mg/mL) were observed in ethanol extracts from Orostachys japonicus leaf. Heat and pH stabilities on antioxidant activity of Orostachys japonicus leaf extract were studied through TPC and DPPH radical scavenging effect. As a result, the extracts from Orostachys japonicus leaf showed high stability. These results suggest that extracts from Orostachys japonicus leaf can be potentially used as proper natural antioxidant in the food industry.

Effect of extract temperature and duration on antioxidant activity and sensory characteristics of Ulmus pumila bark extract (추출온도 및 시간에 따른 유백피 추출물의 항산화 활성과 음료의 관능적 특성)

  • Cho, Myoung Lae;Oh, Yu-Na;Ma, Jin-Gyeong;Lee, Su-Jin;Choi, Young-Hee;Son, Dong-Hwa;Jang, Eun Hee;Kim, Jong-Yea
    • Food Science and Preservation
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    • v.23 no.7
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    • pp.995-1003
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    • 2016
  • Ulmus pumila L. bark underwent distilled water extraction under three temperature condition ($4^{\circ}C$, room temperature, or $80^{\circ}C$) and two extraction times (1, or 5 min) in order to develop a functional beverage products. Changes in yield, pH, color, total phenolic (TP) content, tannin content and antioxidant activity of the aqueous extracts were evaluated for each extraction temperature and duration. Extraction conditions did not affect yield or pH value of the extracts; however CIE $b^*$ values were high in extracts prepared under high extraction temperature ($80^{\circ}C$) and long extraction duration (5 min) conditions. Both extraction temperature and duration affected the TP and tannin contents of the extracts; however, all extraction conditions resulted in ${\geq}450\;mg\;GAE/g$ TP content and ${\geq}80\;mg\;CE/g$ tannin content. All extracts exhibited ABTS and DPPH radical scavenging ability similar to that of vitamin C. Nitric oxide inhibition activity was lower in the 5 min duration sample than in the 1 min sample. The $4^{\circ}C$ extraction temperature produced an extract with the highest reducing power and hydrogen peroxide values. Extraction temperature also affected sensory evaluation results with the $80^{\circ}C$ extraction temperature producing significantly higher flavor, bitterness, and color score, than those obtained under $4^{\circ}C$ and room temperature extraction conditions.

Characterization of Iron Oxides in Soils of Cheju Island by Mössbauer Spectroscopy and Chemical Techniques (Mössbauer 분광법(分光法)과 선택적(選擇的) 추출방법(抽出方法)에 의한 제주도(濟州道) 토양(土壤)에서의 산화철(酸化鐵)의 특성(特性) 구명(究明))

  • Kang, Dong-Woo;Kim, Doo-Chul;Ko, Jeong-Dae;Hong, Sung-Rak;Song, Kwan-Cheol
    • Korean Journal of Soil Science and Fertilizer
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    • v.30 no.1
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    • pp.3-15
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    • 1997
  • Iron oxide compounds in 8 selected Cheju Island soil samples have been analized by X-ray fluorescence spectrometer(XRF), X-ray diffractometry(XRD), selected chemical techniques, and $M{\ddot{o}}ssbauer$ spectroscopy. The result of this analysis by XRF shows that the rate of quantity of $Fe_2O_3$ in 8 soil samples was from 8.03wt.%(Daejeong paddy soil) to 18.21wt.%(Songag soils). Songag, Heugag and Gueom soils were detected to have lower peaks of intensity of hematite by XRD. In addition, these soils were not detected to have hematite and goethite peaks. Ferrihydrite, which is a short-range-order mineral commonly present in volcanic ash soil, was not detected by XRD due to low concentration and/or poor cristallinity. Ferrihydrite contents estimated from Feo values were 8.8~35.2g/kg for volcanic ash soils and 0.85g/kg for the Daejeong soil. Most of the soil samples represented by the paramagnetic $Fe^{3+}$ doublet obtained from $M{\ddot{o}}ssbauer$ spectra at room temperature and 18K were considered to arise from the presence of ferrihydrite, superparamagnetic goethite, and silicate minerals. Also the paramagnetic $Fe^{2+}$ doublets are attributable to primary minerals such as olivine, illite, chlorite, augite, biotite, and hornblende. Goethite and hematite were identified as the dominant crystalline iron oxides in these soils from $M{\ddot{o}}ssbauer$ spectra obtained at room temperature and 18K. All the soil samples exhibited strong superparamagnetic relaxation. Collapse of the $M{\ddot{o}}ssbauer$ magnetic hyperfine splitting at room temperature was due to the small size(${\sim}180{\AA}$) of the oxide particles and/or Al-subsituted goethite.

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Effect of gomchwi (Ligularia fischeri) extract against high glucose- and H2O2-induced oxidative stress in PC12 cells (PC12 신경세포에서 고당 및 과산화수소로 유도된 산화적 스트레스에 대한 곰취 추출물의 효과)

  • Park, Sang Hyun;Park, Seon Kyeong;Ha, Jeong Su;Lee, Du Sang;Kang, Jin Yong;Kim, Jong Min;Lee, Uk;Heo, Ho Jin
    • Korean Journal of Food Science and Technology
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    • v.48 no.5
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    • pp.508-514
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    • 2016
  • Effects of the ethyl acetate fraction from gomchwi (Ligularia fischeri) extract against high $glucose/H_2O_2-induced$ oxidative stress and in vitro neurodegeneration were investigated to confirm the physiological property of the extract. The ethyl acetate fraction of gomchwi extract showed the highest total phenolic contents than the other solvent fractions. An anti-hyperglycemic activity of the ethyl acetate fraction was evaluated using the ${\alpha}-glucosidase$ inhibitory assay, and the half maximal inhibitory concentration ($IC_{50}$) value for ${\alpha}-glucosidase$ was found to be $727.64{\mu}g/mL$. In addition, the ethyl acetate fraction showed excellent 2,2'-azino-bis (3-ethylbenzthiazoline-6-sulfonic acid) diammonium salt radical scavenging activity, and inhibition of malondialdehyde production. The ethyl acetate fraction also decreased intracellular reactive oxygen species, whereas neuronal cell viability against high glucose/$H_2O_2$-induced cytotoxicity was found to be increased. Finally, 3,5-dicaffeoylquinic acid as a main phenolic compound in the ethyl acetate fraction was analyzed by high-performance liquid chromatography. These results suggest that gomchwi might be a good natural source of functional materials to prevent diabetic neurodegeneration.

Study on the Qualitative Discrimination of White, Red, and Black Ginseng Extract (백삼,홍삼과 흑삼 추출물의 정성적 구별법에 관한 연구)

  • Lee, Young-Sang;Im, Deok-Ho;Yang, Jin-Chul;Noh, Deok-Soo;Kim, Kwang-Il;Oh, Soo-Kyo;Choi, Kyo-Chan;Cha, Yun-Hwan
    • The Korean Journal of Food And Nutrition
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    • v.24 no.1
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    • pp.138-143
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    • 2011
  • This study analyzed the maltol quality, composition ratio of fatty acids, and contents of phenolic compounds in white ginseng extracts(four types), red ginseng extracts(five types), black ginseng extracts(two types), and Chinese ginseng extracts(nine types). By examining patterns in these measurements, we determined the characteristic factors of the extracts and measured the possibility of qualitative analysis. In the analysis of maltol using TLC, white ginseng extracts were not detected while red and black ginseng extracts were detected, so the possibility of detection was considered as a characteristic factor for qualitative analysis. Regarding the composition of fatty acids, palmitic and linoleic acids were the main fatty acids in the ginseng extracts palmitic acid was high in white ginseng extracts while linoleic was low in red ginseng extracts. Regarding the ratio(Pal/Lin) of the two fatty acids, there was a large difference between white ginseng extracts(56.7~64.3%) and red ginseng extracts(32.0~38.5%), and these figures seemed to be characteristic factors for the analysis. For the phenolic compounds, extracts contained maltol, caffeic acid, syringic acid, p-coumaric acid, ferulic acid, and cinnamic acid. White ginseng extracts contained similar percentages of phenolic compounds while red ginseng extracts had high maltol content. According to the measurement results of the percentages of maltol and cinnamic acid, white ginseng extracts showed values below five, whereas red and black ginseng extracts showed 53~289, which was also a characteristic factor for qualitative analysis. Consequently, we found that we can differentiate between ginseng extracts using characteristic factors that we analyzed in an experiment on white ginseng extracts from China.

Comparison of Naphthalene Degradation Efficiency and OH Radical Production by the Change of Frequency and Reaction Conditions of Ultrasound (초음파 주파수 및 반응조건 변화에 따른 나프탈렌 분해효율과 OH 라디칼의 발생량 비교)

  • Park, Jong-Sung;Park, So-Young;Oh, Je-Ill;Jeong, Sang-Jo;Lee, Min-Ju;Her, Nam-Guk
    • Journal of Korean Society of Environmental Engineers
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    • v.31 no.2
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    • pp.79-89
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    • 2009
  • Naphthalene is a volatile, hydrophobic, and possibly carcinogenic compound that is known to have a severe detrimental effect to aquatic ecosystem. Our research examined the effects of various operating conditions (temperature, pH, initial concentration, and frequency and type of ultrasound) on the sonochemical degradation of naphthalene and OH radical production. The MDL (Method detection limit) determined by LC/FLD (1200 series, Agilient) using C-18 reversed column is measured up to 0.01 ppm. Naphthalene vapor produced from ultrasound irradiation was detected under 0.05 ppm. Comparison of naphthalene sonodegradion efficiency tested under open and closed reactor cover fell within less than 1% of difference. Increasing the reaction temperature from $15^{\circ}C$ to $40^{\circ}C$ resulted in reduction of naphthalene degradation efficiency ($15^{\circ}C$: 95% ${\rightarrow}$ $40^{\circ}C$: 85%), and altering pH from 12 to 3 increased the effect (pH 12: 84% ${\rightarrow}$pH 3: 95.6%). Pseudo first-order constants ($k_1$) of sonodegradation of naphthalene decreased as initial concentration of naphthalene increased (2.5 ppm: $27.3{\times}10^{-3}\;min^{-3}\;{\rightarrow}$ 10 ppm : $19.3{\times}10^{-3}\;min^{-3}$). Degradation efficiency of 2.5 ppm of naphthalene subjected to 28 kHz of ultrasonic irradiation was found to be 1.46 times as much as when exposed under 132 kHz (132 kHz: 56%, 28 kHz: 82.7%). Additionally, its $k_1$ constant was increased by 2.3 times (132 kHz: $2.4{\times}10^{-3}\;min^{-1}$, 28 kHz: $5.0{\times}10^{-3}\;min^{-1}$). $H_2O_2$ concentration measured 10 minutes after the exposure to 132 kHz of ultrasound, when compared with the measurement under frequency of 28 kHz, was 7.2 times as much. The concentration measured after 90 minutes, however, showed the difference of only 10%. (concentration of $H_2O_2$ under 28 kHz being 1.1 times greater than that under 132 kHz.) The $H_2O_2$ concentration resulting from 2.5 ppm naphthalene after 90 minutes of sonication at 24 kHz and 132 kHz were lower by 0.05 and 0.1 ppm, respectively, than the concentration measured from the irradiated M.Q. water (no naphthalene added.) Degradation efficiency of horn type (24 kHz) and bath type (28 kHz) ultrasound was found to be 87% and 82.7%, respectively, and $k_1$ was calculated into $22.8{\times}10^{-3}\;min^{-1}$ and $18.7{\times}10^{-3}\;min^{-1}$ respectively. Using the multi- frequency and mixed type of ultrasound system (28 kHz bath type + 24 kHz horn type) simultaneously resulted in combined efficiency of 88.1%, while $H_2O_2$ concentration increased 3.5 times (28 kHz + 24 kHz: 2.37 ppm, 24 kHz: 0.7 ppm.) Therefore, the multi-frequency and mixed type of ultrasound system procedure might be most effectively used for removing the substances that are easily oxidized by the OH radical.