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Clinical Findings and Gene Analysis of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-methylcrotonyl-CoA carboxylase 결핍증의 임상 양상과 유전자 분석)

  • Lee, Seung Eun;Ahn, Hee Jae;Lee, Jeongho;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.1-8
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    • 2015
  • Purpose: 3-methylcrotonyl CoA carboxylase deficiency (3MCCD) is leucine metabolic disorder caused by mutation in MCCC1 or MCCC2 gene. Clinical manifestations are variable, ranging from fatal neonatal onset to asymptomatic individuals. There is no retrospective study of Korean patients undergoing long-term treatment for 3MCCD. We reported this study to find out clinical symptoms and gene analysis of 3MCCD patients. Methods: This study was based on data of patients diagnosed with 3MCCD in Soonchunhyang university hospital between April 2009 and September 2013. We report clinical, enzymatic and mutation data of 3MCCD patients found by newborn screening. Results: In tandem mass spectrometry, 3-OH-isovalerylcarnitine (C5OH) of all patients increased. And all 7 patients were elevated 3-methylcrotonylglycine (3MCG) and 3-hydroxyisovaleric acid (3HIVA) in urine. MCCC mutation was identified in 2 patients and MCCC2 was mutated in 5 patients. We found mutation occurred in 8 different parts of nucleotide and such mutation caused 7 different types of changes in amino acid. All patients are on medication of L-carnitine and L-glycine. 4 patients are taking biotin. And 4 patients are eating leucine free formula. After starting treatment, there were no significant changes of urine 3MCG and 3HIVA levels. Conclusions: According to our data, MCCC2 gene mutation was more common than MCCC1 gene mutation. But the level of 3HIVA or 3MCG in urine has no correlation with phenotype. All patients has no symptoms and are shown normal development.

Hydrochemistry and Distribution of Uranium and Radon in Groundwater of the Nonsan Area (논산지역 지하수중 우라늄과 라돈의 수리지질학적 특성과 정밀함량분포)

  • Cho, Byeong Wook;Kim, Moon Su;Kim, Tae Seung;Han, Jin Seok;Yun, Uk;Lee, Byeong Dae;Hwang, Jae Hong;Choo, Chang Oh
    • The Journal of Engineering Geology
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    • v.22 no.4
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    • pp.427-437
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    • 2012
  • A total of 100 groundwater samples were collected from the Nonsan area and the behaviors of uranium and radon as natural radionuclides were investigated with respect to other physicochemical components in the groundwater in order to understand their occurrence, properties, and origins. Radionuclide levels were used to construct detailed concentration maps. The concentration of uranium ranges from 0 to 378 ${\mu}g/L$, with an average of 8.57 ${\mu}g/L$, standard deviation of 42.88 ${\mu}g/L$, and median of 0.56 ${\mu}g/L$. The correlation coefficient between uranium and radon is 0.42, whereas these radionuclides show no relation with other physicochemical components in groundwater. It is noteworthy that the uranium level in most samples (97% of the samples) is less than 30 ${\mu}g/L$, where the bedrock of the aquifer is granite or complex rocks located along the boundary between granite and metamorphic rocks. In the Okcheon metamorphic belt, the uranium concentration of most groundwater is less than 1 ${\mu}g/L$. Radon levels varies from 128 to 9,140 pCi/L, with an average of 2,186 pCi/L, standard deviation of 1,725 pCi/L, and median of 1,805 pCi/L. High radon levels (> 4,000 pCi/L) are most common in regions of Jurassic granite, whereas low radon areas are found in regions of sedimentary rock. In conclusion, the distribution and occurrence of radionuclides are intimately related to the basic geological characteristics of the rocks in which the radiogenic minerals are primarily contained.

Extraction and Quality Stability of Products Containing Lilium Bulb and Lespedeza cuneata G. Don Extracts (백합과 비수리의 추출 및 추출혼합물이 함유된 음료 제품의 품질 안정성)

  • Kim, Seung Tae;Heo, Chang Hoe;Kim, Sung Hoon;Lee, Won Jong
    • Journal of Food Hygiene and Safety
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    • v.35 no.1
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    • pp.75-82
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    • 2020
  • The purpose of this study was to establish optimized extraction conditions for Lilium bulb and Lespedeza cuneata G. Don and to investigate the storage stability of beverages containing extracts. The hot-water extract and the 60% ethanol extract had the highest DPPH radical scavenging activities as well as the highest total polyphenol content. The total polyphenol content, total flavonoid content and DPPH radical scavenging activity were the highest when the Lilium bulb extract was mixed with the Lespedeza cuneata G. Don extract at the ratio of 1:4. Storage stability of beverages was determined during storage at 10, 25, and 35℃ for 6 months. The pH was decreased from 4.15 to 4.01-4.05, while the acidity was increased from 0.60% to 0.70-0.75% after storage for 6 months. The soluble solid contents were not changed during storage of 6 months. The DPPH radical scavenging activity was decreased after 4-6 months. The Hunter b (yellowness) values decreased at 35℃ after storage for 6 months while the lightness (L) and redness (a) were not changed during storage for 6 months. The total saponin content was not remarkably changed during 2 months of storage, while it decreased after 4-6 months of storage. The flavonoid content was decreased 47% and 55% from an intial 21.7 mg/100 mL to 10.3 mg/100 mL and 12.0 mg/100 mL after 1 month of storage and then remained stable until 6 months. General bacteria and coliform group were not detected during storage for 6 months.

Simultaneous Analysis Method of BPA, BPF, BADGE, BFDGE and Their Degradation Products in Canned Foods and Food Simulants by HPLC (HPLC를 이용한 캔 식품 및 식품 유사용매 중 BPA, BPF, BADGE, BFDGE 및 분해산물의 동시분석법)

  • Choi, Jae-Chun;Kyung, Suk-Hun;Lee, Gun-Tack;Lee, Kwang-Ho
    • Korean Journal of Food Science and Technology
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    • v.34 no.2
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    • pp.174-179
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    • 2002
  • A simple and sensitive analysis method based on reverse phase (RP) HPCL with flourescence detector was developed for simultaneous determination of bisphenol A (BPA), bisphenol F (BPF), bisphenol A diglycidyl ether (BADGE), bisphenol F diglycidyl ether (BFDGE), and their degradation products, $BADGE{\cdot}H_2O$, $BADGE{\cdot}2H_2O$, $BFDGE{\cdot}H_2O$, $BFDGE{\cdot}2H_2O$, $BADGE{\cdot}HCl{\cdot}H_2O$, $BADGE{\cdot}HCl$, $BADGE{\cdot}2HCl$, $BFDGE{\cdot}HCl{\cdot}H_2O$, $BFDGE{\cdot}HCl$ and $BFDGE{\cdot}2HCl$, which were hydrolyzed and chlorinated forms of BADGE and BFDGE, in canned foods and food simulants. These compounds were identified by GC/MSD with $MSTFA-NH_4I-DTE$ derivatization. Recovery study was performed at each 100 ng/mL levels of BPA, BPF, BADGE and BFDGE added to canned foods and food simulants. This method was resulted in recovery of $90{\sim}114%$ with relative standard deviation of $4.1{\sim}7.0%$, detection limits of $6{\sim}11$ ng/mL and quantitation limits of $12{\sim}18\;ng/mL$. Calibration curves were linear with correlatin coefficients of 0.997 for BPF, 0.996 for BPA, 0.9987 for BFDGE, and 0.9989 for BADGE.

Antioxidant and Cytotoxic Potentials of Methanol Extracts from Taraxacum officinale F. H. Wigg. at Different Plant Parts (서양민들레 부위별 추출물의 항산화 및 세포독성 연구)

  • Chon, Sang-Uk;Bae, Chang-Hyu;Lee, Sheong-Chun
    • Korean Journal of Plant Resources
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    • v.25 no.2
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    • pp.232-239
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    • 2012
  • A laboratory experiment was conducted to determine the content of phenolics and flavonoids, antioxidant activity and cytotoxicity from methanol extracts of different plant parts of $T.$ $officinale$ F. H. Wigg. Total phenolics [mg chlorogenic acid equivalents (FAE) $kg^{-1}$ DW] was highest in flower extracts (72.0 mg $kg^{-1}$), followed by leaf, root, and stalk extracts of $T.$ $officinale$ ($p$ < 0.05). The result of total flavonoid level [mg naringin equivalents $kg^{-1}$ DW] had same tendency to differential total phenolics contents among plant parts, but showed lower ranges of amount. The antioxidant activity of the methanol extracts from all the plant parts dose-dependently increased. DPPH (1,1-diphenyl-2-picryl hydrazyl radical) free radical scavenging activity was highest in flower extracts ($IC_{50}$ value = 624.3 mg $kg^{-1}$ ), and followed by leaf, root, and stalk extracts of $T.$ $officinale$ ($p$ < 0.05). By means of MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide) assay, cell viability of Calu-6 for human pulmonary carcinoma and SNU-601 for human gastric carcinoma showed the lowest $IC_{50}$ value in the flower extracts ($IC_{50}$ value = 85.7 and 311.4 mg $kg^{-1}$, respectively), indicating the highest cytotoxicity. The results suggested that total phenolics content and total flavonoids level in different plant parts of $T.$ $officinale$ were highly correlated with antioxidative ($r^2$=0.7280 to 0.9971) or with cytotoxic activities ($r^2$=0.5795 to 0.9515).

Isolation, Quality Evaluation, and Seasonal Changes of Bakkenolide B in Petasites japonicus by HPLC (머위로부터 Bakkenolide B의 순수분리, HPLC분석 방법 및 채취 시기별 함량 분석)

  • Kim, Tae Hoon;Kim, Do Youn;Jung, Won Jung;Nagaiya, Ravichandran;Son, Beung Gu;Park, Young Hoon;Kang, Jum Soon;Lee, Young Jae;Im, Dong-Soon;Lee, Young-Geun;Choi, Yung Hyun;Choi, Young-Whan
    • Journal of Life Science
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    • v.24 no.3
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    • pp.252-259
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    • 2014
  • The leaves of Peatasites japonicus are a traditional oriental medicine with diverse biological activities. A simple and specific analytical method for the quantitative determination of bakkenolide B constituents from methanolic extract of the leaves of P. japonicus was developed. Bakkenolide B was isolated from the leaves of P. japonicus, and its structure was elucidated based on 1D, 2D NMR, and GC-MS spectral data. A liquid chromatographic method was developed to evaluate the quality of P. japonicus through determination of major active compound, bakkenolide B. The wavelengths at 254 and 215 nm were chosen to determine bakkenolide B. The recovery of the method was in the range of 98.6 to 103.1%, and bakkenolide B showed good linearity ($r^2$=0.999) within test ranges. The developed method was applied to the determination of bakkenolide B in the plant part and seasonal changes. The results showed that the content of bakkenolide B in the leaf was higher than in the petiole and rhizome. In this study, a simple, rapid, and reliable high-performance liquid chromatography method was used to determine the percentage and composition of bakkenolide B in P. japonicus procured from different Petasites species plants in South Korea. The method can be employed in routine quantitative analysis and quality control of different products in the market.

Interpretation of Limestone Provenance, Materials and Making Characteristics for Lime-Soil Mixture on Tomb Barrier of the Yesan Mokri Site in Joseon Dynasty (조선시대 예산 목리유적 회격묘의 재질 및 제작특성과 석회의 산지 해석)

  • Lee, Chan Hee;Cho, Ji Hyun;Kim, Jiyoung
    • Journal of Conservation Science
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    • v.32 no.4
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    • pp.471-490
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    • 2016
  • This study investigated provenance of raw materials and making technique of lime-based materials used in the tomb barriers of the Yesan Mokri tombs from Joseon dynasty on the basis of analysis to material characteristics and physical properties. In the barrier materials, dry density and porosity are the highest value ($1.82g/cm^3$) and the lowest value (25.20%) in the south wall of No. 1 tomb, respectively. Dry density and porosity are inversely proportional in all barrier materials, but unconfined compressive strength, which is the highest value of $182.36kg/cm^2$ in the No. 2 tomb, does not show an interrelation with porosity and density. Mineral components in the lime-soil mixtures of the tomb barrier are mainly quartz, feldspar, mica and calcite about 200 to $600{\mu}m$ size with yellowish brown matrix. Hydrotalcite and portlandite are detected in the lime mixture, and kaolinite in the soils. The lime materials of the tomb barrier occurred in large quantities weight loss and variable endothermic peaks caused by decarbonization reaction of $CaCO_3$ in the range from 600 to $800^{\circ}C$ in thermal analysis. Making temperature of lime for the tomb barrier is presumed approximately about $800^{\circ}C$ based on the occurrences, compositions and thermal analysis. The tomb barriers are revealed to very wide composition ranges of major elements and loss-on-ignition (22.5 to 33.6 wt.%) owing to mixture of the three materials (lime, sand and clay). It is interpreted that low quality construction technique was applied as the limes are very heterogeneous mixture with aggregates, and curing of the lime was poorly processed in the tomb barriers. Possible limestone sources are distributed in many areas around the Mokri site where limestone conformation and quarries for commercial production are found within Yesan and Hongseong areas. Therefore, we estimated that raw materials were possibly supplied from the local mines near the Mokri site.

Distribution and Behavior of $^{137}Cs$ According to topography and nature of the soil around Yeong-Gwang NPPs, (영광원자력발전소 주변의 지형 및 지질에 따른 $^{137}Cs$ 분포 및 거동에 관한 연구)

  • Han Sang-Jun;Lee Goung-Jin;Kim Hee-Geun
    • Journal of Nuclear Fuel Cycle and Waste Technology(JNFCWT)
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    • v.2 no.4
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    • pp.271-278
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    • 2004
  • This paper shows our experiment is performed to understand the exposure tendency of $^{137}Cs$ according to the height of area and also, to supplement it by considering chemical characters of $^{137}Cs$ exposed to the soil. The samples we use for this experiment are from the general flat area of Yeonggwang county where it has NPPs, the high places of Keumjung & Bulgap mountains, and Naejan mountain where it is quite far from the NPPs. The data from this experiment show that the exposure of $^{137}Cs$ is not harmful since its range is around 252 Bq/kg-dry in most of sampled soils such as from the general flat area, the high place of Keumjung mountain where is 2 km away from the NPPs, the other high place of Bulgap mountain where is about 20 km away from the NPPs, and Naejan mountain where it is far from the NPPs. Not like the general flat area, however, the data show that the higher the area is the more $^{137}Cs$ is exposed. That is, at the top of mountains, the more $^{137}Cs$ is exposed compared to at the bottom area. It is almost $2{\~}6$ times more than the general flat area of Yeonggwang county where it has NPPs. The data also show that the spread of $^{137}Cs$ is deeply related to the geographical(the height of area, rainfall, etc..) factors and chemical factors of soils. As the geographical factors, there are far more chances to be exposed of $^{137}Cs$ at the high area of mountains through the air compared to at lower area and therefore, we can get more high-leveled readings of $^{137}Cs$ at the high area while it is low-leveled ones at the general flat area even if both of them have the same soil conditions. Regarding the chemical factors of soil, it is clarified that the CEC is the key factor. The CEC means the capability of sticking $^{137}Cs$ accumulated into the soil. Hence, the more CEC it has the more high-leveled readings of $^{137}Cs$ we get under the same geographical condition.

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Comparison of Extractive Nitrogenous Constituents in Cultured and Wild Olive Flounder (Paralichthys olivaceus) Muscle (양식 및 자연산 넙치의 함질소엑스성분 비교)

  • 박춘규
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.29 no.1
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    • pp.174-179
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    • 2000
  • The nitrogenous compounds in the muscle extracts of cultured and wild olive flounder, Paralichthys olivaceous, were analyzed. The analyzed coumpounds were extractive nitrogen, free amino acids, oligopeptides, ATP and its related ompounds, quaternary ammonium bases, and guanidino compounds. The distribution pattern of these compounds in cultured and wild fish was found to be very similar. Although the ATP and its related compounds and creatine in the muscle of cultured fish were slightly abundant than those in the muscle of wild one, the extractive nitrogen, total free amino acid, oligopeptides, and TMAO were found to be slightly rich in the muscle of wild fish than those in the muscle of cultrued one. The moisture content of cultured fish was relatively lower but the protein and fat contents of cultured one were higher than those of wild fish. However the differences in the proximate composition, extractive nitrogen and nitrogenous compounds between two fishes were not significantly different.

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Quality Changes of Fresh-Cut Leafy and Condiment Vegetables during Refrigerated Storage (신선편이 엽채류 및 조미채소류의 냉장저장 중 품질변화)

  • Kim, Su-Jin;Sun, Shih-Hui;Kim, Gi-Chang;Kim, Haeng-Ran;Yoon, Ki-Sun
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.40 no.8
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    • pp.1141-1149
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    • 2011
  • The objective of this study was to analyze quality changes during storage of fresh-cut produce (leafy vegetables and condiment vegetables) as a function of packaging and storage temperature. Fresh-cut produce was washed using a three step cleaning process and was packed in vacuum packaging (green onion, hot pepper, onion, baechu) and perforated film packaging (buchu and perilla leaf). The effects of packaging method and storage temperature on quality of fresh-cut produce were determined by analyzing total plate counts, E. coli, coliform groups, moisture content, pH, Aw, surface color, and exterior quality during storage at 4 and 10$^{\circ}C$. According to the results, surface color change and microbial growth were delayed during storage at 4$^{\circ}C$. Additionally, E. coli was not detected during storage. Generally, moisture content decreased in the perforated film packaging. Changes in surface quality such as skin browning, softening of tissue and chlorosis at 4$^{\circ}C$ were inhibited, whereas rapid vacuum annealing and changes in color and flavor were observed in the sample stored at 10$^{\circ}C$. The result indicated that overall quality of the fresh-cut produce at 4$^{\circ}C$ was well maintained. The perforation in packing materials did not significantly increase the number of microorganisms on buchu and perilla leaf. The proper packaging methods and temperature may beneficial effect on microbial safety, quality and thus result in longer shelf-life fresh-cut vegetables during distribution.