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A Case of Short-chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening

  • Park, Kyungwon;Ko, Jung Min;Jung, Goun;Lee, Hee Chul;Yoon, So Young;Ko, Sun Young;Lee, Yeon Kyung;Shin, Son Moon;Park, Sung Won
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.40-43
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    • 2015
  • Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive mitochondrial disorder of fatty acid oxidation associated with mutations in the ACADS gene. While patients diagnosed clinically have a variable clinical presentation, patients diagnosed by newborn screening are largely asymptomatic. We describe here the case of a 1-year-old male patient who was detected by newborn screening and diagnosed as SCAD deficiency. Spectrometric screening for inborn errors of metabolism at 72hrs after birth showed elevated butyrylcarnitine (C4) level of 1.69 mol/L (normal, <0.83 mol/L), C4/C2 ration of 0.26 (normal, <0.09), C5DC+C60H level of 39 mol/L (normal, <0.28 mol/L), and C5DC/C8 ration of 7.36 (normal, <4.45). The follow-up testing at 18 days of age were performed: liquid chromatography tandem mass spectrometry (LC-MS/MS), urine organic acids, and quantitative acylcarnitine profile. C4 carnitine was elevated as 0.91; urine organic acid analysis showed elevated ethylmalonic acid as 62.87 nmol/molCr (normal, <6.5), methylsuccinate 6.81 nmol/molCr (normal, not detected). Sequence analysis of ACADS revealed a homozygous missense mutation, c.164C>T (p.Pro55Leu). He is growing well and no episodes of seizures or growth retardation had occurred.

Sedimentary type Non-Metallic Mineral Potential Analysis using GIS and Weight of Evidence Model in the Gangreung Area (지리정보시스템(GIS) 및 Weight of Evidence 기법을 이용한 강릉지역의 퇴적기원의 비금속 광상부존가능성 분석)

  • Lee Sa-Ro;Oh Hyun-Joo;Min Kyung-Duck
    • Spatial Information Research
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    • v.14 no.1 s.36
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    • pp.129-150
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    • 2006
  • Mineral potential mapping is an important procedure in mineral resource assessment. The purpose of this study is to analyze mineral potential using weight of evidence model and a Geographic Information System (GIS) environment to identify areas that have not been subjected to the same degree of exploration. For this, a variety of spatial geological data were compiled, evaluated and integrated to produce a map of potential mineral in the Gangreung area, Korea. for this, a spatial database considering mineral deposit, topographic, geologic, geophysical and geochemical data was constructed for the study area using a GIS. The used mineral deposits were non-metallic(Kaolin, Porcelainstone, Silicastone, Mica, Nephrite, Limestone and Pyrophyllite) deposits of sedimentary type. The factors relating to mineral deposits were the geological data such as lithology and fault structure, geochemical data, including the abundance of Al, As, Ba, Ca, Cd, Co, Cr, Cu, Fe, K, Li, Mg, Mn, Mo, Na, Ni, Pb, Si, Sr, V, Zn, $Cl^-,\;F^-,\;{PO_4}^{3-},\;{NO_2}^-,\;{NO_3}^-,\;SO_{42-}$, Eh, PH and conductivity and geophysical data, including the Bouguer and magnetic anomalies. These factors were used with weight of evidence model to analyze mineral potential. Probability models using the weight of evidence were applied to extract the relationship between mineral deposits and related factors, and the ratio were calculated. Then the potential indices were calculated by summation of the likelihood ratio and mineral potential maps were constructed from Geographic Information System (GIS). The mineral potential maps were then verified by comparison with the known mineral deposit areas. The result showed the 85.66% in prediction accuracy.

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Development of the Inorganic Coagulants Using Red Mud and Evaluation of Its Coagulation Performance (적니를 이용한 무기응집제의 개발 및 응집성능 평가)

  • Lee, Jae-Rok;Hwang, In-Gook;Bae, Jae-Heum
    • Clean Technology
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    • v.8 no.2
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    • pp.85-92
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    • 2002
  • Red mud is generated as a by-product during the production of aluminum hydroxide from bauxite ore. In this study the red mud coagulants were prepared by reacting 100 ml of 5 M $H_2SO_4$ solution with 10g of red mud at $85^{\circ}C$ or by reacting 100ml of 9M HCl solution with 10g of red mud at $25^{\circ}C$. The prepared red mud coagulants were tested for their coagulation performance of pollutants in the municipal and industrial wastewater. In addition, the coagulation performance was compared with that of a commercially available coagulant ($FeCl_3$). As a result, the red mud coagulants were found to have a good removal efficiency of pollutants in the municipal wastewater (turbidity, phosphate phosphorus) and in the plating wastewater (turbidity, $Pb^{2+}$, $Cd^{2+}$, $Cu^{2+}$, $Zn^{2+}$, $Cr^{3+}$). In the experiment to remove COD in the petrochemical wastewater, the COD removal efficiency by the red mud coagulants was a little poor, but it was better than that by $FeCl_3$.

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Wastewater Treatment and Microbial Structure Analysis by Fluorescence In Situ Hydridizationin a Biofilm Reactor (생물막 반응키에서의 폐수 처리 및 Fluorescence In Situ Hybridization에 의한 복합 미생물계 구조 해석)

  • Kim, Dong-Jin;Han, Dong-Woo;Lee, Soo-Choul;Park, Byeong-Gon;Kwon, Il;Sung, Chang-Keun;Park, Wan-Cheol
    • KSBB Journal
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    • v.17 no.1
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    • pp.80-87
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    • 2002
  • Laboratory scale aerobicfanaerobic biofilm reactor was used for simultaneous and stable removal of organics, N and P components to investigate optimum design and operation parameters and to analyze the microbial distribution and consortium structure of nitrification and denitrification bacteria in aerobic and anaerobic biofilm systems. The biofilm reactor was successfully operated for 143 days to show $COD_{cr},\;BOD_5$, SS removal efficiencies of 88, 88, and 97%, respectively. During the experiment period, almost complete nitrification efficiency of 96% was achieved. Denitrification efficiency was about 45% without addition of any external carbon sources. In case of total phosphorus removal, 74% of the inlet phosphorus was removed. Fluorescence in situ hybridization (FISH) results showed that most of the ammonia oxidizing bacteria in the aerobic nitrification zone was found to be Nitrosomonas species while Nitrospira was the representative nitrite oxidizing bacteria. For the denitrification, Rhodobacter, Rhodovulum, Roseebacter and Paracouus were the dominant denitrification bacteria which was 10 to 20% of the total bacteria in numbers.

Optimal Condition for Decomposition of Ethylenediaminetetraacetic Acid (EDTA) in Supercritical Water Oxidation (초임계수 산화공정에서 Ethylenediaminetetraacetic Acid (EDTA) 분해 최적화 연구)

  • Lee, Hyeon-Cheol;In, Jung-Hyun;Kim, Jong-Hwa;Lee, Chang-Ha
    • Korean Chemical Engineering Research
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    • v.43 no.2
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    • pp.318-323
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    • 2005
  • Supercritical water oxidation (SCWO, P>221 bar, T>$374^{\circ}C$) is a promising method for the decomposition of refractory organic compounds. In this study, the SCWO of Ethylenediaminetetraacetic acid (EDTA) was carried out in a tubular-type continusous reactor system with an $H_2O_2$ oxidant at $387-500^{\circ}C$, 250 bar and residence time (RT) of 15.9-88.9 s. The decomposition efficiencies increased with increasing temperature and oxidant amount, while it was inversely proportional to feed flow rate. The decomposition efficiency of 99.6% was obtained at $500^{\circ}C$, 250 bar, oxidant amount of 400% and residence time of 40.1 s. The effect of temperature on the decomposition efficiency was more significant than that of oxidant amount. In the case of the decomposition efficiency of 5,000 mg/L of EDTA (3,063 mg/L as $COD_{Cr}$), the decompostion of 99% or higher was obtained at the condition of over 40.1 s (RT) and 200 stoichiometric % of $H_2O_2$ in the supercritical water of $500^{\circ}C$ and 250 bar.

SPECTROPHOTOMETRIC ANALYSIS OF THE INFLUENCE OF METAL SUBSTRATE ON THE COLOR OF CERAMIC (금속하부구조물이 도재의 색조에 미치는 영향에 대한 분광측색분석)

  • Lee Su-Ok;Woo Yi-Hyung;Choi Dae-Gyun;Kwon Keung-Rok
    • The Journal of Korean Academy of Prosthodontics
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    • v.41 no.2
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    • pp.148-159
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    • 2003
  • Statement of problem Metal-ceramic restorations have been used extensively by dental clinicians for nearly 40 years. Strength an functional ability of metal-ceramic restorations are proved to be satisfying, However esthetics and biocompatibility of metal alloy which is used in metal-ceramic restoration is not ideal. Using pure gold as an alternative, have advantage of esthetics, biocompatibility over conventional metal alloy. But there had been little article which studied on the color effect of pure gold on fual porcelain color. Purpose The purpose of this study was to spectrophotometrically evaluate the difference between color of metal alloy(Au-Pt, Ni-Cr) and pure gold, during color masking procedure with opaque porcelain and to analyze the differences, Material and Methods Three types of metal - base metal(Ni-Cr), high gold alloy(Au-Pt), pure gold(GES) - specimen were fabricated 1cm in diameter. Four steps were established - after finishing, after pre-coditioning, after application of first opaque porcelain(0.08mm in thickness), after application of second opaque porcelain(0.15mm in thickness)- and tested color with spectrophotometer every each steps and analyzed with $CIEL^*a^*b^*$ color order system. One-Way ANOVA test was used to and out if there were significant differences between groups tested and Shaffe multiple comparison was used to identify where the differences were. Results 1. After finishing and pre-conditioning, pure gold(GES) group showed most high values in $L^*,a^*,b^*$. 2. After application of first opaque porcelain(0.08mm in thickness), after application of second opaque porcelain(0.15mm in thickness), pure gold(GES) group showed the least difference in $L^*,a^*,b^*$ values and the lowest ${\Delta}E$ value(${\Delta}E$=0.63). 3. After application of first opaque porcelain and after application of second opaque porcelain differences that were significant (P<0.05) between groups were found only in $a^*$ values. 4. Base metal alloy group showed the lowest $a^*$ value in test after application of first opaque porcelain and the highest value in test after application of first opaque porcelain Conclusion Pure gold group and high gold group showed higher $a^*$ values than base metal group when tested after 0.08mm thickness of opaque porcelain was applied and pure gold group showed much similar $L^*,a^*,b^*$ values between 0.08mm thickness and 0.15mm thickness of opaque porcelain. This meant that pure gold was more easily masked by opaque porcelain than the other two groups.

Geochemical Enrichment and Migration of Environmental Toxic Elements in Stream Sediments and Soils from the Samkwang Au-Ag Mine Area, Korea (삼광 금-은광산 일대의 하상퇴적물과 토양내 함유된 독성원소의 지구화학적 부화와 이동)

  • Lee, Chan Hee;Lee, Byun Koo;Yoo, Bong-Cheal;Cho, Aeran
    • Economic and Environmental Geology
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    • v.31 no.2
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    • pp.111-125
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    • 1998
  • Dispersion, migration and enrichment of environmental toxic elements from the Samkwang Au-Ag mine area were investigated based upon major, minor and rare earth element geochemistry. The Samkwang mine area composed mainly of Precambrian granitic gneiss. The mine had been mined for gold and silver, but closed in 1996. According to the X-ray powder diffraction, mineral composition of stream sediments and soils were partly variable mineralogy, which are composed of quartz, orthoclase, plagioclase, amphibole, muscovite, biotite and chlorite, respectively. Major element variations of the host granitic gneiss, stream sediments and soils of mining and non-mining drainage, indicate that those compositions are decrese $Al_2O_3$, $Fe_2O_3$, MgO, $TiO_2$, $P_2O_5$ and LOI with increasing $SiO_2$ respectively. Average compositional ranges (ppm) of minor and/or environmental toxic elements within those samples are revealed as As=<2-4500, Cd=<1-24, Cu=6-117, Sb=1-29, Pb=17-1377 and Zn=32-938, which are extremely high concentrations of sediments from the mining drainage (As=2006, Cd=l1, Cu=71, Pb=587 and Zn=481 ppm, respectively) than concentrations of the other samples and host granitic gneiss. Major elements (average enrichment index=6.53) in all samples are mostly enriched, excepting $SiO_2$, $Na_2O$ and $K_2O$, normalized by composition of host granitic gneiss. Rare earth element (average enrichment index=2.34) are enriched with the sediments from the mining drainage. Minor and/or environmental toxic elements within all samples on the basis of host rock were strongly enriched of all elements (especially As, Br, Cu, Pb and Zn), excepting Ba, Cr, Rb and Sr. Average enrichment index of trace elements in all samples is 15.55 (sediments of mining drainage=37.33). Potentially toxic elements (As, Cd, Cr, Cu, Ni, Pb, and Zn) of the samples revealed that average enrichment index is 46.10 (sediments of mining drainage=80.20, sediments of nonmining drainage=5.35, sediments of confluent drainage=20.22, subsurface soils of mining drainage=7.97 and subsurface soils of non-mining drainage=4.15). Sediments and soils of highly concentrated toxic elements are contained some pyrite, arsenopyrite, sphalerite, galena and goethite.

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Environmental Geochemistry and Heavy Matel Contamination of Ground and Surface Water, Soil and Sediment at the Kongjujuil Mine Creek, Korea (공주제일광산 수계에 분포하는 지하수, 지표수, 토양 및 퇴적물의 환경지구화학적 특성과 중금속 오염)

  • 이찬희
    • Economic and Environmental Geology
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    • v.32 no.6
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    • pp.611-631
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    • 1999
  • Enviromental geochemisty and heary metal contamination at the Kongjueil mine creek were underaken on the basis of physicohemical properties and mineralogy for various kinds of water (surface, mine and ground water),soil, precipitate and sediment collected of April and December in 1998. Hydrgeochemical composition of the water samples are characterized by relatively significant enricant of Ca+Na, alkiali ions $NO_3$ and Cl inground and surfore water, wheras the mine waters are relatively eneripheral water of the mining creek have the characteristics of the (Ca+Mg)-$(HCO_3+SO_4)$type. The pH of the mine water is high acidity (3.24)and high EC (613$\mu$S/cm)compared with those of surface and ground water. The range of $\delta$D and $\delta^{18}O$ values (relative to SMOW) in the waters are shpwn in -50.2 to -61.6% and -7.0 to -8.6$\textperthousand$(d value=5.8 to 8.7). Using computer program, saturation index of albite, calcite, dolomite in mine water are nearly saturated. The gibbiste, kaolinite and smectite are superaturated in the surface and ground water, respectively. Calculated water-mineral reaction and stabilities suggest that weathing of silicate minerals may be stable kaolinite owing to the continuous water-rock reaction. Geochemical modeling showed that mostly toxic heavy metals may exist larfely in the from of metal-sulfate $(MSO_4\;^2)$and free metal $(M^{2+})$ in nmine water. These metals in the ground and surface water could be formed of $CO_3$ and OH complex ions. The average enrichment indices of water samples are 2.72 of the groundwater, 2.26 of the surface water and 14.15 of the acid mine water, normalizing by surface water composition at the non-mining creek, repectively. Characteristics of some major, minor and rate earth elements (Al/Na, K/Na, V/Ni, Cr/V, Ni/Co, La/Ce, Th/Yb, $La_N/Yb_N$, Co/Th, La/Sc and Sc/Th) in soil and sediment are revealed a narrow range and homogeneous compositions may be explained by acidic to intermediate igneous rocks. And these suggested that sediment source of host granitic gneiss colud be due to rocks of high grade metamorphism originated by sedimentary rocks. Maximum concentrations of environmentally toxic elements in sediment and soil are Fe=53.80 wt.% As=660, Cd=4, Cr=175, Cu=158, Mn=1010, Pb=2933, Sb=4 and Zn=3740 ppm, and extremely high concentrations are found are found in the subsurface soil near the ore dump and precipitates. Normalizing by composition of host granitic gneiss, the average enerichment indices are 3.72 of the sediments, 3.48 of the soils, 10.40 of the precipitates of acid mine drainage and 6.25 of the soils near the main adit. The level of enerichment was very severe in mining drainage sediments, while it was not so great in the soils. mineral composition of soil and sediment near the mining area were partly variable being composed of quartz, mica, feldspar, chlorite, vermiculite, bethierin and clay minerals. reddish variable being composed of quartz, mica, feldspar, chlorite, vermiculite, bethierin and clay minerals. Reddish brown precipitation mineral in the acid mine drainage identifies by schwertmanite. From the separated mineralgy, soil and sediment are composed of some pyrite, arsenopyite, chalcopyrite, sphalerite, galena, malachite, goethite and various kinds of hydroxied minerals.

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Assessment of Pollution Characteristics of Surface Sediments from Lake Andong(II): Studies on the Nutrient and Heavy Metal Release Characteristics from Sediments in Andong Dam (안동댐 퇴적물의 오염도 평가(II): 안동댐 퇴적물에 대한 영양염류 및 중금속 용출 특성 연구)

  • Kim, Young Hun;Park, Jae Chung;Shin, Tae Cheon;Kim, Jeong Jin
    • Korean Journal of Mineralogy and Petrology
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    • v.33 no.4
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    • pp.391-405
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    • 2020
  • Leaching chracteristics of Andong-dam sediment was conducted for heavy metal and nutrients. Five mixed sediment samples were prepared and leaching was conducted under aerobic and anaerobic condition for 60 days. Cd, Cu, Pb, Cr, Zn, Hg, As, Fe, Mn, phosphorus, and nitrogen were analyzed at each sampling time. The leaching rate of phosphorus was higher in anaerobic condition comparing with that of under aerobic condition. Some samples showed higher than the water-quality level IV. In case of As and Cd which showed highest contamination level in the sediment, leached concentration were 0.028 mg/L and 0.003 mg/L in maximum, respectively. The leached concentration is below than the lake water quality standard of Korea. Other heavy metals including Cu, Pb, and Cr also showed similar trend. Five step sequential extraction showed that easily extractable 1-2 step portion such as ion-exchangeable and adsorbed one was less than 10% and the most of the portion was residual. For As and Cd, the residual portion were 80% and 95% respectively indicating the risk by the heavy metal leaching into the lake for a short period was not high in comparing with the contamination levels.

Improving Effects on Rats with Chronic Acid Reflux Esophagitis Treated of Coptidis Rhizoma Extract (황련(黃連) 추출물의 만성 역류성 식도염 유발 흰쥐에 대한 개선 효과)

  • Kim, Soo Hyun;Roh, Seong-Soo;Lee, Jin A;Shin, Mi-Rae;Lee, Ah Reum;Koo, Jin Suk;Park, Hae-Jin
    • The Korea Journal of Herbology
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    • v.34 no.1
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    • pp.117-124
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    • 2019
  • Objective : Chronic acid reflux esophagitis (CARE), one of gastroesophageal reflux disease (GERD) is increasing worldwide. Coptidis rhizoma extract (CRE) is a traditional herb that cures a variety of diseases. This study was conducted to evaluate the protective effect of CR on rats with chronic acid reflux esophagitis. Methods : The antioxidant activities were evaluated through radical scavenging assays using 2,2-diphenyl-1-picrylhydrazyl (DPPH) and 2,2'-azino-bis (3-ethylbenzothiazolin-6-sulfonic acid) (ABTS) radical scavenging assays. CARE was surgically induced in 5-week-old male SD rats by ligating the border between forestomach and glandular portion with a 2-0 silk tie and covering the duodenum using 18-Fr $N{\acute{e}}laton$ catheter. To evaluate the esophageal protective effect of CRE, rats were divided into 3 groups: Nor (normal rats), Veh (chronic acid reflux esophagitis induced rats), CR (chronic acid reflux esophagitis induced rats treated with CRE 200 mg/kg body weight). Results : The administration of CRE significantly prevented the mucosal injury of the esophagus tissue and histological findings improved the esophageal lesion. It has been shown that inflammation is prevented by the increase of antioxidant-related factors (Nrf-2, HO-1, SOD, catalase, and GPx-1/2) through the antioxidant pathway of esophageal tissue. The administration of CRE reduced the increase of serum peroxynitrite ($ONOO^-$) and markedly reduced the protein expression of inflammatory mediator such as $NF-{\kappa}Bp65$, $p-I{\kappa}B{\alpha}$, iNOS, and IL-6. Conclusions : Overall, these results suggest that CRE administration confirmed the protective effect of esophageal mucosa, suggesting that it is a potential treatment for chronic acid reflux esophagitis.