• Title/Summary/Keyword: 질량측정

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$^{137}$ Cs Gamma Ray Induced Thermoluminescence from ion Implanted $Al_2$O$_3$ ($^{137}$ Cs 감마선 여기에 의한 이온 주입된 $Al_2$O$_3$의 열자극 발광)

  • 김태규;이병용;김성규;박영우;추성실
    • Progress in Medical Physics
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    • v.5 no.2
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    • pp.3-12
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    • 1994
  • $\^$137/Cs gamma ray induced thermoluminescenc(TL) from Na$\^$+/ ion implanted Al$_2$O$_3$ and unimplanted Al$_2$O$_3$ and the TL from Na$\^$+/ ion implanted Al$_2$O$_3$ are measured over the temperature range of 340K~620K. The TL curve of Na$\^$+/ ion implanted Al$_2$O$_3$ induced by $\^$137/Cs gamma ray is split into iolated TL peak located at 415K, 452K, 508K, and 568K. Because that the concentration of trapped char he carries of $\^$137/Cs gamma ray induced Al$_2$O$_3$ implanted with Na$\^$+/ ion is larger than that of Na$\^$+/ ion only implanted Al$_2$O$_3$, and the trap concentration of Na$\^$+/ ion implanted Al$_2$O$_3$ is much than that of $\^$137/Cs gamma ray only irradiated Al$_2$O$_3$, the TL intensity of Na$\^$+/ ion implanted Al$_2$O$_3$ induced by $\^$137/Cs gamma ray is about 20 times and 5 times higher than that of Al$_2$O$_3$ only implanted with Na$\^$+/ ion and Al$_2$O$_3$ only irradiated with $\^$137/Cs gamma ray, respectively. In proportion as ion implantation does and energy are incresed, the number of generated defects and the rate of defect creation are incresed, respectively. Therefore the TL intensity of ion implanted Al$_2$O$_3$ is depend on ion dose and energy. Acccrding to increse of incident ion mass, the TL intensity of ion implanted Al$_2$O$_3$ is abruptly decresce. This result showes that the TL intensity of ion implanted Al$_2$O$_3$ is closely related to ion depth range as wll as rate of defect creatin. The TL intensity of ion implanted Al$_2$O$_3$ is found to be related with defects generated by ion implantation. Table Caption

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Development and Validation of Analytical Method for Nitroxoline in Chicken Using HPLC-PDA (HPLC-PDA를 이용한 닭고기 중 Nitroxoline 분석법 개발)

  • Cho, Yoon-Jae;Chae, Young-Sik;Kim, Jae-Eun;Kim, Jae-Young;Kang, Ilhyun;Lee, Sang-Mok;Do, Jung-Ah;Oh, Jae-Ho;Chang, Moon-Ik;Hong, Jin-Hwan
    • Korean Journal of Environmental Agriculture
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    • v.32 no.1
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    • pp.70-77
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    • 2013
  • BACKGROUND: Nitroxoline is an antibiotic agent. It is used for the treatment of the second bacterial infection by the colibacillosis, salmonellosis and viral disease of the poultry. When the nitroxoline is indiscreetly used, the problem about the abuse of the antibiotics can occur. Therefore, this study presented the residue analytical method of nitroxoline in food for the safety management of animal farming products. METHODS AND RESULTS: A simple, sensitive and specific method for nitroxoline in chicken muscle by high performance liquid chromatograph with PDA was developed. Sample extraction with acetonitrile, purification with SPE cartridge (MCX) were applied, then quantitation by HPLC with C18 column under the gradient condition with 0.1 % tetrabutylammonium hydroxide-phosphoric acid and methanol was performed. Standard calibration curve presented linearity with the correlation coefficient ($r^2$) > 0.999, analysed from 0.02 to 0.5 mg/L concentration. Limit of quantitation in chicken muscle showed 0.02 mg/kg, and average recoveries ranged from 72.9 to 88.1 % in chicken muscle. The repeatability of measurements expressed as coefficient of variation (CV %) was less than 12 % in 0.02 and 0.04 mg/kg. CONCLUSION(S): Newly developed method for nitroxoline in chicken muscle was applicable to food inspection with the acceptable level of sensitivity, repeatability and reproducibility.

Study of Synthesis and Biological Function on Aminophosphonic Acids (Aminophosphonic Acids 화합물의 생물학적 기능연구)

  • Kim, Sook-He
    • Journal of Nutrition and Health
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    • v.4 no.4
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    • pp.39-46
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    • 1971
  • Since ${\beta}-aminoethylphosphonic$ acid was discovered in the living organism, the biosynthesis and biological function of aminophosphonic acids have been extensively studied. The purpose of this project consists in the two parts: 1)the preparation of DL-1-amino-2-phenylethylphosphonic acid (Phenylalanine aminophosphonic acid) and DL-1-amino-3-methylbutyl-phosphonic acid (Isoleucine aminophosphonic acid) by the method of Chamber and Isbell. 2) the study of metabolism and biological functions of those synthetic materials by the animal experiment (white rats) The importance of this project proved to be the first experience fed by animals for the elucidation of biochemical and metabolic functions in the animal body. The following organic synthesis of DL-1-amino-3-methylbutylphosphonic acid and DL-1-amino-2-phenylethylphosphonic acid are studied. 1)Synthesis of DL-1-amino-3-methylbutylphosphonic acid a) Synthesis of Iso-butylbromide b) Synthesis of Ethyl iso-butylmalonate c) Synthesis of Iso-caproic acid d) Synthesis of $Ethyl-{\alpha}-bromo$ iso-caproate e) Synthesis of $Triethyl-{\alpha}-phosphono$ iso-caproate f) Synthesis of DL-1-amino-3-methylbutylphosphonic acid 2)Synthesis of DL-1-amino-2-phenylethylphosphonic acid a) Synthesis of Diethyl phosphite b) Synthesis of Ethylchloro acetate c) Synthesis of Triethyl phospho acetate d) Synthesis of Triethyl benzyl phospho acetate e) Synthesis of DL-1-amino-2-phenylethylphosphonic acid The synthetic compounds; DL-1-amino-3-methylbutylphosphonic acid and DL-1-amino-2-phenyl ethylphosphonic acid which are essential amino acid (isoleucine, phenylalanine)analogue are supplemented to the animal diet at the level of 0.2% and 0.4% for isoleucine analogue and 0.35% and 0.7% for phenylalanine analogue. The plain isoleucine and phenylalanine at the same level in the diet are fercilitated as comparable groups in this study. Two sets of experience including 100 male rats were carried out for seven weeks each total 14 weeks. During this period, urine samples, and each big organs were collected for the analysis of total nitrogen, phosphorus, and glycogen contents in the individual samples by Micro Kjeldahl Fisk & Subbarow and Nelson Somogye, method. 1) The result of the project a) The yield of DL-1-amino-3-methylbutylphosphonic acid and DL-1-amino-2-phenylethylphosphonic acid showed low tendency at the level of 12.5% and 20% Melting point of those two compounds were very high and the ${\alpha}-amino$ group in the synthetic compounds showed positive reaction with ninhydrin in the violet color. b) Ail the experimental groups included in this study revealed statistically no significant difference in the organ weight, total body nitrogen retention and urinary phosphorus excretion This means isoleucine aminophosphonic acid and Phenylalanine aminophosphonic acid were utilized in the body as much as the plain amino acids, isoleucine and phenylalanine did. c) The glycogen contents in the liver of the phenylalaine aminophosphonic acid gruop showed higher statistically significant(p<0.05) in the comparision with the group of the Phenylalanine and the Standard-2. It was noteworthy that the higher glycogen content in the liver might indicate the significance in the incorporation of phenylalanine aminophosphonic acid into the intermediate of tricarboxylic acid cycle as activated state.

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Development of a Method for Analyzing the Nicotine Content in Synthetic Flavoring Substances as Unauthorized E-cigarette Liquid by Using HPLC (전자담배 액상 충진제와 유사한 합성착향료 중 니코틴의 HPLC 분석법 개발)

  • Kim, Jae-Young;Lee, Sang-Mok;Chang, Moon-Ik;Cho, Yoon-Jae;Lee, Han-Jin;Chae, Young-Sik;Rhee, Gyu-Sik
    • Korean Journal of Food Science and Technology
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    • v.45 no.6
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    • pp.693-699
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    • 2013
  • A simple, sensitive, and specific method for quantifying the nicotine content of synthetic favoring substances (SFS) was developed using high performance liquid chromatography (HPLC) with a photo-diode array detector (PDA). Nicotine was extracted from SFS samples by using an acid-base liquid-liquid extraction method with dichloromethane and distilled water. The nicotine content was quantified by HPLC/PDA (261.9 nm) with a $C_{18}$ column under a gradient of 10% acetonitrile with 20 mM ammonium formate (ammonia solution adjusted to pH 8.7) to 100% acetonitrile. The calibration curve, analyzed from concentration standards between 0.1 to 2 mg/L, presented linearity with a correlation coefficient ($r^2$)>0.9999. The limit of quantitation (LOQ) of nicotine in SFS was 0.4 mg/kg, and the average recoveries ranged from 76.4% to 96.3%. The repeatability of measurements, expressed as the coefficient of variation (CV%), ranged from 1.74 to 5.12%. This newly developed method for nicotine quantification in SFS can be considered an analytical method with an acceptable level of sensitivity and repeatability.

Studies of vindoline metabolism in Catharanthus roseus cell cultures using deuterium-labeled tabersonine (Catharanthus roseus 세포 배양액에 deuterium이 치환된 tabersonine을 사용한 vindoline 생합성 경로 연구)

  • Lee, Soo;Lee, Hyang-Yeol
    • Journal of the Korean Applied Science and Technology
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    • v.29 no.1
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    • pp.71-80
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    • 2012
  • Vinca alkaloids produced from Catharanthus roseus are one of the most important natural product drugs in treatments of human cancers. These anticancer drugs are derived from coupling of the two monomeric indole alkaloids, catharanthine and vindoline. In order to investigate vindoline biosynthesis, tabersonine-$CD_3$ 1a is synthesized to use as a deuterium labeled precursor, which is distinguished clearly from the natural counterpart. We show that these deuterium labeled tabersonine 1a are successfully incorporated into the vindoline biosynthetic pathway to yield three deuterated vindoline intermediates. 16-Hydroxytabersonine-$CD_3$ (m/z 356) 2a, 16-Methoxytabersonine-$CD_3$ (m/z 370) 3a, 16-Methoxy-2,3-dihydro-3-hydroxytabersonine-$CD_3$ (m/z 388) 4a are produced from the cell suspension culture measured by UPLC/MS at 5 and 13 days after feeding tabersonine. The conversion rates from 1a to 2a and 2a to 3a are fast, whereas that from 3a to 4a is much slower. This indicates that the rate determining step among the first three vindoline biosynthesis is the last step. As a result of the slow conversion rate from 3a to 4a, the accumulation level of 16-Methoxytabersonine-$CD_3$ 3a is significantly increased up to 13 days. The accumulation ratio among 2a, 3a and 4a is 1, 2 and 0.1 at 5 days. However, the peaks of desacetoxyvindoline-$CD_3$ 5a, deacetylvindoline-$CD_3$ 6a and vindoline-$CD_3$ 7a are not found from the cell extracts even after 13 days of incubation which may indicate no presence of their corresponding enzymes.

Absolute Renal $^{99m}Tc-DMSA$ Uptake and Renal Scan in Children with Vesicoureteral Reflux (방광요관역류를 가진 소아의 DMSA 스캔과 절대 신섭취율의 평가)

  • Bae, Sang-Kyun;Lee, Dong-Soo;Yang, Hyung-In;Choi, Chang-Woon;Chung, June-Key;Lee, Myung-Chul;Koh, Chang-Soon;Choi, Yong;Kim, Gwang-Myung;Choi, Hwang;Yeon, Kyung-Mo
    • The Korean Journal of Nuclear Medicine
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    • v.26 no.2
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    • pp.327-332
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    • 1992
  • $^{99m}Tc-dimercaptosuccinic$ acid (DMSA) 주사후 일정시간에 측정한 절대적 신섭취량은 기능이 살아있는 신피질량과 관계있다. 소아의 신기능은 출생후 계속 성숙되어 생후 약 $1\sim2$년에 성인의 기능에 도달하는데 DMSA섭취도 성인과는 다른 양상을 보일 것으로 기대되며 신질환에서 절대적 신섭취율의 평가는 연령을 고려해야 할 것이다. 저자들은 DMSA 스캔을 시행한 소아 환자를 대상으로 스캔상 피질 결손이 없으며 양측신의 섭취율이 비슷하고 혈중 크레아티닌치가 정상인 경우를 대조군으로 하여 연령별 DMSA의 절대적 신섭취율을 구하였고 방광요관역류를 가진 환아를 대상으로 DMSA스캔을 시행하고 신섭취율을 조사하였다. 1) 대조군은 모두 65명으로 좌우측 신섭취율의 유의한 차이는 없었으며 연령에 따라 2세경에 플라토에 도달하였는데 한쪽 신장의 평균섭취율은 3개월 미만이 $14.5{\pm}3.1%$ ID, 3개월에서 6개월 미만이 $17.2{\pm}2.1%$ID, 6개월에서 1년 미만이 $18.4{\pm}1.3%$ID, 1년에서 1년6개월 미만이 $19.3{\pm}1.1%$ID, 1년 6개월에서 2년 미만이 $21.9{\pm}2.0%$ID, 2세이상 15세이하가 $20.1{\pm}0.6%$ID였으며 전체 평균섭취율은 $19.4{\pm}0.5%$ID (injected dose, $mean{\pm}S.E.$)였다. 2) 방광요관역류를 가진 환아는 55명 (일측성 56명, 양측성 29명)으로 109신장을 대상으로 하였다. 방광요관역류의 정도와 피질결손의 수와는 대체로 비례관계가 있었으나 방광요관역류가 없으면서 피질결손이 있는 경우가 25신장중 2예 (8%)였으며, 방광요관역류가 있는 84신장중 27예 (32.1%), 이중에서 방광요관역류가 3도 이상인 62신장중 13예 (21%)에서는 피질결손이 없었다. 3) 이환신의 DMSA 섭취율을 연령에 따른 대조군의 섭취율에 대한 비(섭취율비)로 나타내면 한쪽에 역류가 있을 때 이환신의 경우 $0.55{\pm}0.06$, 정상신의 경우 $1.34{\pm}0.05$이었으며, 양쪽에 역류가 있을 때는 평균 $0.82{\pm}0.08$ $(mean{\pm}S.E.)$ 이었다. 4) 피질결손이 있는 신장의 절대 DMSA 신섭취율은 감소되어 있었고 상대측 신장의 섭취율은 피질 결손이 있더라도 대상적인 증가의 경향을 보였다. 이상의 결과로 소아에서 DMSA 절대적 신섭취율의 연령에 따른 변화를 알 수 있었으며 방광요관역류의 정도와 피질결손의 정도가 반드시 비례하지만은 않아서 시간경과에 따른 추후 검사가 필요하리라 생각된다. 또한 방광요관역류가 있는 환아에서 DMSA 섭취율로 신기능을 평가할 때, 특히 영유아에서 연령에 따른 고려가 있어야 할 것으로 보인다.

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Carbon and Nitrogen Stocks of Trees and Soils in a 'Niitaka' Pear Orchard ('신고'배 재배지 내 수체 및 토양의 탄소 및 질소 저장량)

  • Lee, Tae-Kyu;Choi, Jang-Jeon;Kim, Jong-Sung;Lee, Han-Chan;Ro, Hee-Myong
    • Horticultural Science & Technology
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    • v.31 no.6
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    • pp.828-832
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    • 2013
  • To report country-specific carbon and nitrogen stocks data in a pear orchard by Tier 3 approach of 2006 IPCC guidelines for national greenhouse gas inventories, an experimental pear orchard field of the Pear Research Station, National Institute of Horticultural & Herbal Science, Rural Development Administration, Naju, Korea ($35^{\circ}01^{\prime}27.70N$, $126^{\circ}44^{\prime}53.50^{\prime\prime}E$, 6 m altitude), where 15-year-old 'Niitaka' pear (Pyrus pyrifolia Nakai cv. Niitaka) trees were planted at a $5.0m{\times}3.0m$ spacing on a Tatura trellis system, was chosen to assess the total amount of carbon and nitrogen stocks stored in the trees and orchard soil profiles. At the sampling time (August 2012), three trees were uprooted, and separated into six fractions: trunk, main branches, lateral branches (including shoots), leaves, fruits, and roots. Soil samples were collected from 0 to 0.6 m depth at 0.1 m intervals at 0.5 m from the trunk. Dry mass per tree was 4.7 kg for trunk, 13.3 kg for main branches, 13.9 kg for lateral branches, 3.7 kg for leaves, 6.7 kg for fruits, and 14.1 kg for roots. Amounts of C and N per tree were respectively 2.3 and 0.02 kg for trunk, 6.4 and 0.07 kg for main branches, 6.4 and 0.09 kg for lateral branches, 6.5 and 0.07 kg for roots, 1.7 and 0.07 kg for leaves, and 3.2 and 0.03 kg for fruits. Carbon and nitrogen stocks stored between the soil surface and a depth of 60 cm were 138.29 and $13.31Mg{\cdot}ha^{-1}$, respectively, while those contained in pear trees were 17.66 and $0.23Mg{\cdot}ha^{-1}$ based on a tree density of 667 $trees{\cdot}ha^{-1}$. Overall, carbon and nitrogen stocks per hectare stored in a pear orchard were 155.95 and 13.54 Mg, respectively.

Detection Characteristics of Gamma-Irradiated Seeds by using PSL, TL, ESR and GC/MS (PSL, TL, ESR 및 GC/MS 분석을 통한 감마선 조사된 유지종실류의 검지 특성 연구)

  • Kim, Kyu-Heon;Son, Jin-Hyok;Kang, Yoon-Jung;Park, Hye-Young;Kwak, Ji-Young;Lee, Jae-Hwang;Park, Yong-Chjun;Jo, Tae-Yong;Kim, Jae-I;Lee, Hwa-Jung;Lee, Sang-Jae;Han, Sang-Bae
    • Journal of Food Hygiene and Safety
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    • v.28 no.2
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    • pp.130-137
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    • 2013
  • In this study, we investigated the applicability of the photostimulated luminescence (PSL), thermoluminescence (TL), electron spin resonance (ESR) and gas chromatography/mass spectrometry (GC/MS) methods for 5 seeds which are not allowed to be irradiated in Korea. All 5 seeds including evening primrose seed, safflower seed, rape seed, sunflower seed and flax seed were analyzed. Samples were irradiated at 1~10 kGy using a $^{60}Co$ gamma-ray irradiator. In PSL study, the photon counts of all the unirradiated samples showed negative (lower than 700). The photon counts of irradiated (1, 5, 10 kGy) samples showed positive (higher than 5,000). In TL analysis, results showed that it is possible to apply TL method to all foods containing minerals. In ESR measurements, the ESR signal (single-line) intensity of irradiated foods was higher than non-irradiated foods. The hydrocarbons 1,7-hexadecadiene ($C_{16:2}$) and 8-heptadecene ($C_{17:1}$) from oleic acid were detected only in the irradiated samples before and after the treatment at doses ${\geq}$ 1 kGy, but they were not detected in non-irradiated samples before and after treatment. These two hydrocarbons could be used as markers to identify irradiated safflower seed, rape seed, Sunflower seed and flax seed. And then, the hydrocarbons 1,7,10-hexadecatriene ($C_{16:3}$) and 6,9-heptadecadiene ($C_{17:2}$) from linoleic acid were detected in the evening primrose seed, safflower seed and sunflower seed. According to the results, PSL, TL and GC/MS methods were successfully applied to detect the irradiated foods. It is concluded that PSL, TL and GC/MS methods are suitable for detection of irradiated samples and a combined method is recommendable for enhancing the reliability of detection results.

Development of $^{99m}Tc$-Transferrin as an Imaging Agent of Infectious Foci (감염병소 영상을 위한 $^{99m}Tc$-Transferrin 개발)

  • Kim, Seong-Min;Song, Ho-Chun
    • Nuclear Medicine and Molecular Imaging
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    • v.40 no.3
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    • pp.177-185
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    • 2006
  • Purpose: Purpose of this study is to synthesize $^{99m}Tc$-labeled transferrin for injection imaging and to compare it with $^{67}Ga$-titrate for the detection of infectious foci. Materials and methods: Succinimidyl 6-hydrazino-nicotinate hydrochloride-chitosan-transferrin (Transferrin) was synthesized and radiolabeled with $^{99m}Tc$. Labeling efficiencies of $^{99m}Tc$-Transferrin were determined at 10 min, 30 min, 1 hr, 2 hr, 4 hr and 8 hr. Biodistribution and imaging studies with $^{99m}Tc$-Transferrin and $^{67}Ga$-citrate were performed in a rat abscess model induced with approximately $2{\times}10^8$ colony forming unit of Staphylococcus aureus ATCC 25923. Results: Successful synthesis of Transferrin was confirmed by mass spectrometry. Labeling efficiency of $^{99m}Tc$-Transferrin was $96.2{\pm}0.7%,\;96.4{\pm}0.5%,\;96.6{\pm}1.0%,\;96.9{\pm}0.5%,\;97.0{\pm}0.7%\;and\;95.5{\pm}0.7%$ at 10 min, 30 min, 1 hr, 2 hr, 4 hr and 8 hr, respectively. The injected dose per tissue gram of $^{99m}Tc$-Transferrin was $0.18{\pm}0.01\;and\;0.18{\pm}0.01$ in the lesion and $0.05{\pm}0.01\;and\;0.04{\pm}0.01$ in the normal muscle, and lesion-to-normal muscle uptake ratio was $3.7{\pm}0.6\;and\;4.7{\pm}0.4$ at 30 min and 3 hr, respectively. On image, lesion-to-background ratio of $^{99m}Tc$-Transferrin was $2.18{\pm}0.03,\;2.56{\pm}0.11,\;3.08{\pm}0.18,\;3.77{\pm}0.17,\;4.70{\pm}0.45\;and\;5.59{\pm}0.40$ at 10 min, 30 min, 1 hr, 2 hr, 4 hr and 10 hr and those of $^{67}Ga$-citrate was $3.06{\pm}0.84,\;4.12{\pm}0.54\;and\;4.55{\pm}0.74 $ at 2 hr, 24 hr and 48 hr, respectively. Conclusion: Transferrin is successfully labeled with $^{99m}Tc$, and its labeling efficiency was higher than 95% and stable for 8 hours. $^{99m}Tc$-Transferrin scintigraphy showed higher image quality in shorter time compared to $^{67}Ga$-citrate image. $^{99m}Tc$-transferrin is supposed to be useful in the detection of the infectious foci.

한국인 좌심실 비대증 환자들에서 파브리병 선별검사의 의의

  • Park, Hyeong-Du;Jo, Seong-Yun;Lee, Su-Yeon;Jeon, Eun-Seok;Park, Seung-U;Lee, Sang-Hun;Lee, Sang-Cheol;Choe, Jin-O;Park, Seong-Ji;Jang, Seong-A;Kim, Hyeong-Gwan;Gi, Chang-Seok;Kim, Jong-Won;Jin, Dong-Gyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.135-141
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    • 2014
  • Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.