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Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria (한국인 메틸말로닌산뇨증 및 프로피온산뇨증의 유전자형과 임상 양상)

  • Lee, Eun Hye;Ko, Jung Min;Kim, Jae-Min;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.51 no.9
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    • pp.964-970
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    • 2008
  • Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results : Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different mutations in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion : Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies.

Feasibility Study of the Radiophotoluminescent Glass Dosimeter for High-energy Electron Beams (유리선량계를 이용한 고에너지 전자선 측정 이용 가능성에 관한 연구)

  • Son, Ki-Hong;Jung, Hai-Jo;Shin, Sang-Hun;Lee, Hyun-Ho;Lee, Sung-Hyun;Kim, Mi-Sook;Ji, Young-Hoon;Kim, Kum-Bae
    • Progress in Medical Physics
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    • v.22 no.1
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    • pp.52-58
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    • 2011
  • Our goal is to assess the suitability of a glass dosimeter on detection of high-energy electron beams for clinical use, especially for radiation therapy. We examined the dosimetric characteristics of glass dosimeters including dose linearity, reproducibility, angular dependence, dose rate dependence, and energy dependence of 5 different electron energy qualities. The GD was irradiated with high-energy electron beams from the medical linear accelerator andgamma rays from a cobalt-60 teletherapy unit. All irradiations were performed in a water phantom. The result of the dose linearity for high-energy electron beams showed well fitted regression line with the coefficient of determination; $R^2$ of 0.999 between 6 and 20 MeV. The reproducibility of GDs exposed to the nominal electron energies 6, 9, 12, 16, and 20 MeV was ${\pm}1.2%$. In terms of the angular dependence to electron beams,GD response differences to the electron beam were within 1.5% for angles ranging from $0^{\circ}$ to $90^{\circ}$ and GD's maximum response differencewas 14% lower at 180o. In the dose rate dependence, measured dose values were normalized to the value obtained from 500 MU/min. The uncertainties of dose rate were measured within ${\pm}1.5%$ except for the value from 100 MU/min. In the evaluation of the energy dependence of the GD at nominal electron energies between 6 and 20 MeV, we obtained lower responses between 1.1% and 4.5% based on cobalt-60 beam. Our results show that GDs have a considerable potentiality for measuring doses delivered by high-energy electron beams.

Development and Performance Test of Preamplifier and Amplifier for Gamma Probe (감마프로브용 전단증폭기와 주증폭기의 개발과 성능 평가)

  • Bong, Jung-Kyun;Kim, Hee-Joung;Lee, Jong-Doo;Kwon, Soo-Il
    • The Korean Journal of Nuclear Medicine
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    • v.33 no.1
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    • pp.100-109
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    • 1999
  • Purpose: Preamplifier and amplifier are very important parts for developing a portable counting or imaging gamma probe. They can be used for analyzing pulses containing energy and position information for the emitted radiations. The commercial Nuclear Instrument Modules (NIMs) can be used for processing these pulses. However, it may be improper to use NIMs in developing a portable gamma probe, because of its size and high price. The purpose of this study was to develop both preamplifier and amplifier and measure their performance characteristics. Materials and Methods: The preamplifier and amplifier were designed as a charge sensitive device and a capacitor resistor-resistor capacitor (CR-RC) electronic circuit, respectively, and they were mounted on a print circuit board (PCB). We acquired and analyzed energy spectra for Tc-99m and Cs-137 using both PCB and NIMs. Multichannel analyzer (Accuspec/A, Canberra Industries Inc., Meriden Connecticut, U.S.A) and scintillation detectors (EP-047(Bicron Saint-Gobain/Norton Industrial EP-047 (Ceramics Co., Ohio, U.S.A) with $2"{\times}2"$ NaI(T1) crystal and R1535 (Hamamatsu Photonics K.K., Electron Tube Center, Shizuoka-ken, Japan) with $1"{\times}1"$ NaI(T1) crystal were used for acquiring the energy spectra. Results: Using PCB, energy resolutions of EP-047 detectors for Tc-99m and Cs-137 were 12.92% and 5.01%, respectively, whereas R1535 showed 13.75% and 5.19% of energy resolution. Using the NIM devices, energy resolutions of EP-047 detector for Tc-99m and Cs-137 were measured as 14.6% and 7.58%, respectively. However, reliable energy spectrum of R1535 detector could not be acquired, since its photomultiplier tube (PMT) requires a specific type of preamplifier. Conclusion: We developed a special preamplifier and amplifier suitable for a small sized gamma probe that showed good energy resolutions independent of PMT types. The results indicate that the PCB can be used in developing both counting and imaging gamma probe.

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Patient-related Barriiers to Pain Management in General Population (일반인의 통증관리 장애정도)

  • Yoo, Yang-Sook;Choe, Sang-Ok;Cho, Young-Yi;Koh, Su-Jin;Hor, Soo-Jin;Jeon, Ji-In;Kwon, So-Hi
    • Journal of Hospice and Palliative Care
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    • v.10 no.4
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    • pp.184-189
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    • 2007
  • Purpose: This study was to explore barriers to effective pain management in general population. Methods: Total 163 Participants completed the Barrier Questionnaire-II (BQ-II), a 27-item on a six point scale, from May to June in 2007. BQ-II consisted of four subscales which were 1) physical effects (PE) addressing beliefs that side effects of analgesics are inevitable and concerns about tolerance, fatalism (Fa) addressing fatalistic beliefs about cancer pain and its management, Communication (Co) addressing the beliefs of 'good patient' and concerns of distracting physician from underlying disease, and harmful effects (HE) addressing fear of addiction and harmful effect to immune system of pain medicine. Results: The BQ-II total had an internal consistency of 0.877 in this study. HE was the biggest barrier (3.03) followed by PE (2.73), Fa (2.15), and Co (1.71). Items appeared as great concerns were 'there is a danger of becoming addicted to pain medication'(3.58), 'using pain medicine blocks your ability to know if you have any new pain' (3.18), 'pain medicine is very addictive' (3.09), 'when you use pain medicine your body becomes used to its effects and pretty soon it won't work any more' (3.09), and 'drowsiness from pain medicine is difficult to control' (3.09). Only 12 respondents (7.4%) reported that they took any type of pain education, however, those who took pain education represented significantly lower barriers to pain management than who did not (P=.029). Conclusion: This result suggests the strategies for public education to surmount cancer pain.

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Spatial Characteristics of Travelling Merchants and Consumers in Chongsan Periodic Markets of Okchon County, Korea (충북(忠北) 옥천군(沃川郡) 청산(靑山) 정기시(定期市) 출시자(出市者)의 공간적(空間的) 특성(特性))

  • Han, Ju-Seong;Kim, Bong-Kyeum
    • Journal of the Korean association of regional geographers
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    • v.2 no.1
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    • pp.133-150
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    • 1996
  • This study is to clarify the market cycle of travelling merchants and the spatial behavior of consumer's commodity purchasing. its reasons and purchasing region of each commodity in Chongsan of Chongsan Myun(village) periodic markets, that is one of the lowest central places in Okchon county. The data used are the results of interviews with 58 travelling merchants on June 22 and July 17, 1994, and questionaire survey taken to parents of students of Chongsan middle school of Chongsan Myun in Okchon county. Study area is typical agricultural regions taking the role of central places to provide rural service and is comparatively important periodic markets. Some of findings are summarized as follows: (1) Until 1980's. appearance of closed periodic markets is caused by the population decrease in rural region, income increase, and rising of living level according to the Five Years Planning of Economic Development, appearance of chain stores of agricultural co-coperative and of supermarkets,. changes in distribution mechanisim by increasing consignment volume of agricultural products through agricultural co-coperative, and the development of transportation in Okchon county. These, too, became the reasons for the decline of the Chongsan periodic markets in Okchon county. (2) Most of the travelling merchants visiting the Chongsan periodic markets are in their 50's of age, and they sell the miscellaneous commodities and agricultural products. And about one-fourths of travelling merchants reside in regions with periodic markets and in Okchon of higher order central places. (3) Travelling routes visting periodic markets can be simplified to five types. Major types of travelling routes are Chongsan periodic market$\rightarrow$Wonnam$\rightarrow$Boun, and Chongsan periodic market$\rightarrow$Yungdong$\rightarrow$Yongsan. The patterns of travelling merchants visiting periodic markets are classified into the type of everyday visiting of periodic markets over three days of five days from merchant's residence to market, and the type of merchants or consumers visiting one day's of five days. On days that travelling merchants don't visit periodic markets they purchase the commodities in Seoul, Taejon and Chongju. (4) Consumers who use periodic markets are from thirties to fifties years of age and most of them are employed in agriculture. Consumers visit periodic markets on foot or by bus, and visit two or three times in a month, and mainly purchase the commodities for one or two hours from about ten o'clock in the morning. (5) Consumers purchase the necessaries of life in periodic markets, and other commodities are purchased in Taejon city, Youngdong, and Boun Eup(town). But consumers purchase the goods(convenience goods, shopping goods, and specialied goods) largerly in Chongsan, because additional expense and disadvantage after service with poor transportation service for purchased goods in others regions. Therefore, the hierarchies of central places by the consumer's purchasing behaviour can not be seem in dewellers in Chongsan and Chongseong Myun.

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Changes in the Physicochemical Characteristics of Green Wheat during Maturation (성숙과정 중 녹색밀의 이화학적 특성변화)

  • Kim, Min-Chul;Lee, Ka-Soon;Lee, Byung-Jin;Kwon, Byung-Gu;Ju, Jung-Il;Gu, Ja-Hyeong;Oh, Man-Jin
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.36 no.10
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    • pp.1307-1313
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    • 2007
  • In order to evaluate the utilization of immature green wheat kernels as food processing material, these experiments were carried out to analyze general composition, free sugars, free amino acids, mineral content and color of 3 wheat varieties according to their heading dates. Contents such as moisture, crude protein, crude lipid and ash were gradually decreased according to the days after heading of 3 wheat varieties, while crude fiber and starch were gradually increased. Maltose and maltotriose contents in immature green wheat kernels were high but its rapidity decreased by closing to ripeness. Contents of free amino acids showed a tendency to decrease, among which alanine content was the highest around 25 days after heading, and then glutamic acid, GABA, glycine in order. Contents of total free amino acid were decreased by closing to ripeness. Among 3 wheat varieties, its contents of Guru wheat was the highest. As wheat matured, ${\beta}-glucan$ contents were decreased from 1.5% to 0.28% on 43 days after heading. Mineral contents of 3 wheat varieties were generally increased by closing to ripeness after coming into ears, and K, Mg were especially prominent. As wheat matured, lightness was decreased, while redness and yellowness were increased. Considering chemical composition and color, the immature green wheat were produced through blanching the spikes harvested before the yellow ripe stage. The harvested green wheat cereals is able to eat raw wheat or cook it as food processing material.

Antioxidative Effects of Inula britannica var. chinensis Flower Extracts According to the flowering period and species of Inula britannica var. chinensis (금불초 종(種) 및 개화시기에 따른 금불초 꽃 추출물의 항산화 효능)

  • Kwon, Soon Sik;Jeon, So Ha;Jeon, Ji Min;Cheon, Jong Woo;Park, Soo Nam
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.39 no.3
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    • pp.195-203
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    • 2013
  • In this study, antioxidative effects of the extracts of different species and flowering periods of Inula britannica were investigated. According to the free radical (1,1-diphenyl-2-picrylhydrazyl, DPPH) scavenging activity of the extracts, The I. britannica var. chinensis flower extract (500 ${\mu}g/mL$) was measured in a 79.89% free radical scavenging activity, but the flower extracts of similar species (I. britannica var. linariaefolia Regel, I. britannica var. ramosa, I. salicina var. asiatica) did not show any effect on the free radical scavenging activity. The effects of the free radical scavenging activity of I. britannica var. chinensis flower extracts were exhibited in the order of full bloom (93.68%), bud (43.28%), and fallen blossom (14.11%). Next, we established optimum condition of extract solvent, temperature, extraction time. The extract from ethanol at $60^{\circ}C$ showed the most free radical scavenging activity among other conditions and extraction time not relevant in free radical scavenging activity. The protective effects of the extract of I. britannica var. chinensis flower on the photohemolysis of human erythrocytes by using rose bengal were increased in a concentration-dependent manner (5 ~ 50 ${\mu}g/mL$). In particular, the extract in 50 ${\mu}g/mL$ concentration exhibited better protective activity (${\tau}_{50}$ = 116.1 min) than (+)-${\alpha}$-tocopherol (${\tau}_{50}$ = 73.44 min), which is a known lipophilic antioxidant. Principle component of I. britannica var. chinensis flower was identified as quercetin of flavonoids by high-performance liquid chromatography (HPLC). These results indicate that the extract of I. britannica var. chinensis flower can function as antioxidants in biological systems, particularly skin exposed to UV radiation by scavenging free radical and $^1O_2$, and protect cellular membranes against ROS. It is concluded that the antioxidative effects of the extract of I. britannica var. chinensis flower could be applicable to functional cosmetics.

Spontaneous and Stimulated Release of the TNF-$\alpha$, IL-1$\beta$, IL-6 and IL-8 of Alveolar Macrophages in the Patients with Pulmonary Tuberculosis (폐결핵 환자의 폐포 대식세포에서 TNF-$\alpha$, IL-1$\beta$, IL-6 및 IL-8의 분비에 관한 연구)

  • Cheon, Seon-Hee
    • Tuberculosis and Respiratory Diseases
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    • v.45 no.5
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    • pp.942-952
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    • 1998
  • The aim of this study was to evaluate spontaneous and LPS stimulated proinflammatory cytokines and chemokine release of alveolar macrophages in the patients with pulmonary tuberculosis and healthy individuals, as a control. Alveolar macrophages recovered from bronchoalveolar lavage fluids were cultured with or without LPS 0.1, 1, or 10 ${\mu}g/ml$ for 24 and 48 hours in 37C, 5% CO2. TNF-$\alpha$, IL-1$\beta$, IL-6 and IL-8 amount were evaluated using ELISA kit from the supernatants. There were a significant increase in the spontaneous 24 hours release of TNF-$\alpha$ and IL-6 from the involved segments of tuberculosis patients compared with uninvolved segments and normal control There were also increasing trends of release of them after LPS stimulation in involved segments, but not significant. IL-1$\beta$ and IL-8 were not evaluated from the involved segments of tubeculosis and there were not significant differences of them between uninvolved segments of tuberculosis and normal control. It is concluded that cytokine release of alveolar macrophages in the pulmonary tuberculosis was markedly increased, and it was localized to the alveolar macrophages from the involved segments.

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Effects of Electric Stimulation Conditions on In Vitro Fusion and Developmental Rates of Nuclear Transplanted Porcine Embryos (전기적 융합조건이 돼지 핵이식 수정란의 융합 및 체외발달에 미치는 영향)

  • 박준규;박희성
    • Korean Journal of Animal Reproduction
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    • v.26 no.2
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    • pp.125-132
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    • 2002
  • This study was conducted to examine the effects of electric stimulation conditions on in vitro developmental ability of procine embryos after somatic cell nuclear transfer, The porcine ear cell was cultured in vifro for confluency in serum-starvation condition (TCM-199+0.5% FBS) for cell confluency. The zona pellucida of IVM oocytes were partially drilled using laser system. Single somatic cell was individually transferred into the enucleated oocyte. The reconstructed embryos were electrically fused with 0.3M mannitol. After electric fusion, the embryos were activated and cultured in NCSU-23 medium containing 10% FBS at 39$^{\circ}C$, 5% $CO_2$ in air for 6 to 8 days. Nuclear transferred(NT) oocytes which fused at a field strength of 1.90kv/cm showed a higher (P<0.05) fusion rate(49.5%, 50/101) compared to 2.10 kv/cm(25.8%, 24/93) or 2.50kv/cm(30.3%, 27/89). After electric activation, the cleavage rate of NT embryos was 48.0(24/50), 66.6(16/24) and 70.3% (19/27), respectively and these were not different. There was no significant difference in fusion rate by duration and pulse of electric stimulation. In cleavage rate, however, more NT embryos(76.3%, 45/59) cleaved at 60 $\mu$sec twice than other embryos(49.1 to 56.5%) with different conditions of electric stimulation(P<0.05). NT embryos activated at a field strength of 1.50kv/cm showed a higher developmental rate(9.8%, 5/51) than those embryos activated at 1.25kv/cm(0%) or parthenotes(6.4%, 7/109). These results suggest that some factors such as field strength, duration and pulse of electric stimulation could be affected to in vitro developmental ability of nuclear transplanted porcine embryos.

Comparative Evaluation of the VITEK 2 System and Species-specific PCR Methods for the Detection of Vibrio Species Isolated from Shrimp (새우에서 분리된 Vibrio species 동정을 위한 VITEK 2 system방법과 species-specific PCR방법 비교 평가)

  • Lee, Jeong-Min;Lee, Won-Jun;Kim, Min-Ju;Cho, Yong-Sun;Lee, Jin-Sung;Lee, Hyun-Jin;Yoon, Sang-Woo;Kim, Keun-Sung
    • Journal of Food Hygiene and Safety
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    • v.30 no.3
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    • pp.281-288
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    • 2015
  • Vibrio is a genus of Gram-negative, curved, halophilic, and non-spore-forming bacteria. Some of the Vibrio species, such as V. cholerae and V. parahaemolyticus, often contaminate seafood products and occasionally cause human diseases when the seafood products are ingested. A total of 24 Vibrio strains were isolated from shrimp samples on Thiosulphate citrate bile salt sucrose (TCBS) media in this study. All of the 24 isolates were confirmed to belong to the genus Vibrio by using 16S rRNA gene sequence analyses. Vitek 2 system and species-specific polymerase chain reaction (PCR) methods were used to further identify a total of 29 Vibrio strains at the species level, including the 24 shrimp Vibrio isolates and five Vibrio reference strains. The specificities of the two methods to identify Vibrio strains at the species level were compared in this study. The species-specific PCR method was designed to detect five different Vibrio species, such as Vibrio cholerae, Vibrio parahaemolyticus, Vibrio vulnificus, Vibrio alginolyticus, and Vibrio mimicus. From the 24 Vibrio shrimp isolates, the Vitek 2 system method could identify 15 (62.5%) strains as Vibrio species and 7 (29.2%) strains as non-Vibrio species, but could not identify the rest 2 (8.3%) strains. But species-specific PCR method could identify 16 (66.7%) strains as Vibrio species and could not identify the rest 8 (33.3%) strains. Among the 24 Vibrio shrimp strains, these two methods could unanimously identify 7 (7/24, 29.2%) strains (2 V. parahaemolyticus, 4 V. alginolyticus, and 1 V. mimicus). Considering that such different identification results were obtained using the two different methods in this study, identification method for Vibrio species must be carefully chosen.