• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권6호
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• pp.558-566
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• 2020

Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.

• 한국식품영양학회지
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• 제29권5호
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• pp.785-794
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• 2016

This research was conducted to evaluate quality changes in traditional Doenjang and manufactured Doenjang during a storage period of 8 weeks. Low-salt Doenjang and commercial Doenjang were purchased from different manufacturers and proximate analysis as well as changes in isoflavone, polyphenol, flavonoid contents of the samples were investigated using a mass spectrophotometer. The salinity of traditional Doenjang, low salt Doenjang, and commercial Doenjang were $13.2{\pm}1.15$, $7.17{\pm}2.74$, $10.67{\pm}0.35%$, respectively and the salt concentrations of the soybean pastes did not change during storage. After 8 weeks at $35^{\circ}C$, chromatic values of all the paste samples decreased somewhat, with traditional Doenjang exhibiting fewer changes as compared to manufactured Doenjang. Amino acid nitrogen, acidity, microbial population all tended to increase with time, although some samples showed fluctuations during the test period. Moreover, the total isoflavone contents of traditional Doenjang increased with storage time while that of manufactured Doenjang tended to decrease. The isoflavone aglycone was shown to be the highest in traditional Doenjang, while isoflavone glycoside was abundant in manufactured Doenjang. Total flavonoid contents showed similar trends regardless of samples; initial contents of total flavonoid was 0.6 mg/g which increased to more than twice to 1.4 mg/g at the end of storage period. Composition profile of Doenjang extracts was analyzed using UPLC-Q-ToF.

• 대한유전성대사질환학회지
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• 제2권1호
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• pp.77-79
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• 2002

The urea cycle, consisting of a series of six enzymatic reactions, plays key roles to prevent the accumulation of toxic nitrogenous compound and synthesize arginine de novo. Five well characterized diseases have been described, resulting from an enzymatic defect in the biosynthesis of one of the normally expressed enzyme. This presentation will focus on two representative diseases; ornithine transcarbamylase(OTC) deficiency and citrullinemia(argininosuccinate synthetase deficiency). OTC deficiency is one of the most common inborn error of urea cycle, which is inherited in X-linked manner. We identified 17 different mutations in 20 unrelated Korean patients with OTC deficiency; L9X, R26P, R26X, T44I, R92X, G100R, R141Q, G195R, M205T, H214Y, D249G, R277W, F281S, 853 del C, R320X, V323M and 10 bp del at nt. 796-805. These mutations occur at well conserved nucleotide sequences across species or CpG hot spot. The L9X and R26X lead to the disruption of leader sequences, required for directing mitochondrial localization of the OTC precursor. Their phenotypes are severe, and neonatal onset. The G100R, R277W and V323M mutations were uniquely identified in patients with late onset OTC deficiency. The other genotypes are associated with neonatal onset. Out of 20 patients with OTC deficiency, only 6 patients are alive; two were liver transplanted, and normal in growth and development at 2, 4 years after transplantation respectively. Citrullinemia is an autosomal recessive disease, caused by the mutations in the argininosuccinate synthetase(ASS) gene. We identified in 3 major mutations in 11 unrelated Korean patients with citrullinemia; G324S, $IVS6^{-2}$ A to G, and 67 bp ins at nt 1125-1126. Among these, the 67 base pair insertion mutation is novel. The allele frequency of each mutation is; G324S(45%), IVS6-2 A to G(32%), and 67 base pair insertion(14%). All patients are diagnosed at neonatal or infantile age. Interestingly, two patients presented with stroke like episode. Out of 11 patients, 5 patients died. Among 6 patients alive, one patient was successfully liver transplanted.

• 한국세라믹학회지
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• 제45권11호
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• pp.701-706
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• 2008

High frequency dielectric ceramics have potential for applications in mobile and satellite communications systems at frequencies higher than 10GHz. The Ba$(Zn_{1/3}Ta_{2/3})O_3$ ceramics are known to have a high quality factor, a small temperature coefficient of the resonance frequency and a high dielectric constant. On the other hands, sintering at high temperature for extended time is required to obtain the ordered structure for high quality factor. In this study, the microwave dielectric properties of $ZrO_2$ and NiO-added Ba$(Zn_{1/3}Ta_{2/3})O_3$ ceramics prepared by solid-state reaction have been investigated. Adding $ZrO_2$ and NiO could effectively promote the densification even the case of decreasing the sintering time. At the surface of samples, secondary phase of Ba-Ta compounds was formed possibly due to the evaporation of ZnO, however, the interior of the samples remained as pure Ba$(Zn_{1/3}Ta_{2/3})O_3$. The samples sintered at $1600^{\circ}C$ for 2h exhibited 1:2 ordering of Zn and Ta cations. Excellent microwave dielectric properties of $Q{\cdot}f$(>96,000 GHz) and ${\varepsilon}_r$=30 has been obtained.

• 한국환경생태학회지
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• 제24권6호
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• pp.735-743
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• 2010

NaCl 처리에 대한 물푸레나무, 모감주나무, 상수리나무, 참느릅나무의 생장반응을 살펴보기 위하여 NaCl 용액을 0, 25, 50, 100, 200mM 농도로 4개월간 처리하고 생존율, 상대생장율 변화, 생체중 및 건물중, 잎의 색소함량을 분석하였다. NaCl 처리에 따라 토양의 pH와 EC가 증하였으며, 처리기간이 길어짐에 따라 4수종의 생장율은 뚜렷하게 감소하였다. 최종 생존율이 가장 높은 수종은 참느릅나무로서 200mM 처리구에서 15%의 생존율을 보였고, 나머지 3수종은 200mM 처리구에서 모두 고사하였다. 상대생장율, 생체중 및 건물중은 NaCl 처리기간이 길어짐에 따라 감소하였다. 총 엽록소 함량은 60일 후까지 증가하는 경향을 보이다가 감소하였으며, 모든 수종에서 NaCl 처리에 따른 총 엽록소 함량과 카로테노이드 함량의 변화는 크지 않았다. NaCl 처리 시 발생되는 산화적 스트레스에 대한 4수종의 생장반응을 종합한 결과 참느릅나무, 모감주나무, 물푸레나무, 상수리나무 순으로 내성이 큰 것으로 판단되었다.

• 한국임상약학회지
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• 제20권1호
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• pp.9-16
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• 2010

Purpose: 본 연구는 한국인 성인 조혈모세포이식환자를 대상으로 경구용 사이클로스포린의 집단약동학 분석을 통하여 사이클로스포린의 약동학적 파라미터에 영향을 미치는 요인 분석을 실시하고자 하였다. Methods: 2000년 12월부터 2006년 8월까지 서울대학교병원에서 동종조혈모세포이식을 받고 면역억제제로 사이클로스포린을 복용한 성인 백혈병환자를 대상으로 후향적으로 자료를 수집하였다. 사이클로스포린의 약동학에 영향을 미치는 인자로는 연령, 성별, 이식 후 날짜, 신기능, 공여자와의 관계, 질병의 종류, 혈중 빌리루빈 농도, 사이클로스포린의 대사를 유도하는 프레드니솔론의 투여량, 헤마토크리트, 사이클로스포린의 대사를 저해하는 약물의 병용여부 등을 검토하였다. 분석은 NONMEM$^{(R)}$ VI 프로그램을 이용하였으며, 변수를 추가하지 않은 기본 모형을 만든 후에 단계적인 요인의 추가와 제거를 통해 최종모형을 제작하였다. Results: 최종 상관 모형은 다음과 같다; CL/F (L/h) = $85.6{\times}e^{(0.646\;{\times}\;HCT/28.9\;+\;0.0464\;{\times}\;Gender)}$. 사이클로스포린의 겉보기 클리어런스는 환자의 성별이 남자일 때 또는 헤마토크릿이 감소할수록 증가하였다. 그 외 파라미터는 다음과 같이 계산되었다; $K_{\alpha}=0.0787\;(h^{-1})$; Q=57.1(L/kg/h); $V_{d-central\;compartment}$=1,100 (L); $V_{d-peripheral\;compartment}$ = 213,000(L). 개체간 편차는 40% 미만이었으며, 개체내 편차를 포함하는 잔차는 24.02%였다. Conclusions: 사이클로스포린의 약동학적 특징과 그 클리어런스에 영향을 끼칠 수 있는 임상적 요인을 이해하는 것은 환자 개개인의 용량과 용법의 결정 및 이상반응 발생의 예방에 유용할 수 있다. 한국인 조혈모세포이식환자에서 사이클로스포린의 약동학에 영향을 미치는 최종 파라미터를 구한 본 연구의 결과는 조혈모세포이식을 받은 한국인 성인환자에서 사이클로스포린의 모니터링 및 용량조절에 유용할 것으로 전망된다.

• 한국정보과학회논문지:정보통신
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• 제30권4호
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• pp.559-571
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• 2003

PSTN(Public Switched Telephone Network)과 IP Network의 연동을 제공하는 새로운 프로토콜 ENUM(tElephone Numbering Mapping)은 전 세계적으로 유일성을 가지는 전화번호를 DNS 기반의 구조에서 사용되는 F.Q.D.N.(Fully Qualified Domain Name)으로 변환함으로써 E.164 번호를 사용하여 PSTN에서 제공하는 서비스와 IP 네트워크에서 제공하는 서비스를 동시에 사용 가능케 하는 새로운 인터넷 주소체계이다. 본 논문에서는 미국과 유럽에서 활발히 진행중인 ENUM 모델 표준화 연구 및 개발에 발맞추어 ENUM 기반의 서비스를 사용할 때 ENUM resolution 성능 향상을 위한 Tier 2 네임서버 관리기법을 제시한다. ENUM 위임구조에서 Tier 2 네임서버 제공업자가 지역번호 별로 ENUM 등록 대행업 및 NAPTR RR(Naming Authority PoinTeR 리소스 레코드)을 제공함으로써 ENUM resolution의 성능이 향상됨을 증명하기 위해 ENUM 기반의 네트워크 모델링을 사용하였다. ENUM 프로토콜이 IP 네트워크 사용자와 PST리 사용자에게 유연성 및 편의성을 제공하는 반면 사용자가 ENUM을 사용할 때 지불해야할 인내력을 측정할 척도가 없는 현재 이 논문에서 제안하는 방법은 사용자의 ENUM 서비스 선택 결정에 긍정적인 영향을 미치고, ENUM Tier 2 네임서버 관리를 위한 정책에 도움이 될 것으로 기대된다.

• 에너지공학
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• 제13권4호
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• pp.242-258
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• 2004

한국원자력연구소에서는 기존의 일체형 가연성 독봉과 다른 이중구조로 된 가연성독봉 개념을 제시하였다. 이중구조 가연성독봉(Erbia Duplex BP)은 내부에 Natural U+Gd$_2$O$_3$, 외부에는 Enriched $UO_2$+Er$_2$O$_3$를 배열시킨 구조이다. 이러한 독봉은 장주기 노심에서 기존의 Gadolinia BP과 동일한 반응도제어를 할 수 있을 것이라 예상된다. 이중구조 가연성독봉의 핵적 타당성을 확인하기 위해 24개월 주기용 한국표준형원자로를 비교대상으로 선정하였으며, 기존 연구된 여러 가지 독봉설계안들과 4가지 핵특성에 대하여 비교 분석하였다. 핵특성 평가 결과, 이중구조가연성 독봉은 비교대상보다 무한증배계수, 첨두봉출력인자, 반응도억제가, 감속재온도계수측면에서 모두 유리한 경향을 보였다. 설계변수에 따른 민감도분석을 통해 도출한 최적화된 핵연료집합체를 이용하여 노심적용 타당성을 확인하였다. 주기길이, 첨두출력 및 감속재온도 계수를 비교하였으며 전 노심해석결과 주기길이가 비고대상보다 4-7일 길게 나타났다. 이러한 결과는 등가의 독봉집합체를 설계했음에도 불구하고 노심에 장전되는 우라늄의 양이 서로 달라서 생기는 현상으로 판단된다. 하지만 전체적인 핵특성을 비교해보면 이중구조 가연성독봉을 장전한 노심이 비교대상노심보다 다소 유리하면서도 거의 비슷함을 알 수 있었다. 마지막으로 경제성 평가를 통해 장주기 노심에서의 이중구조 가연성독봉의 제조 가능성 및 적용 타당성이 충분히 확인되었다.

• 한국전기전자재료학회:학술대회논문집
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• 한국전기전자재료학회 2004년도 하계학술대회 논문집 Vol.5 No.2
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• pp.838-841
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• 2004

[ $B_2O_3$ ] added $Ba(Mg_{1/3}Nb_{2/3})O_3$ (BBMN) ceramics were not sintered below $900^{\circ}C$. However, when CuO was added to the BBMN ceramic, it was sintered even at $850^{\circ}C$. The amount of the $Ba_2B_2O_5$ second phase decreased with the addition of CuO. Therefore, the CuO additive is considered to react with the $B_2O_3$ inhibiting the reaction between $B_2O_3$ and BaO. Moreover, it is suggested that the solid solution of CuO and $B_2O_3$ might be responsible for the decrease of the sintering temperature of the specimens. A dense microstructure without pores was developed with the addition of a small amount of CuO. However, a porous microstructure with large pores was formed when a large amount of CuO was added. The bulk density the dielectric constant $({\varepsilon}_r)$ and the Q-value increased with the addition of CuO but they decreased when a large amount of CuO was added. The variations of those properties are closely related to the variation of the microstructure. The excellent microwave dielectric properties of Qxf=21500 GHz, ${\varepsilon}_r=31$ and temperature coefficient of resonance frequency$({\tau}_f)=21.3\;ppm/^{\circ}C$ were obtained for the $Ba(Mg_{1/3}Nb_{2/3})O_3+2.0\;mol%B_2O_3+10.0$ mol%CuO ceramic sintered at $875^{\circ}C$ for 2h.

• Animal Bioscience
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• 제34권2호
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• pp.276-284
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• 2021

Objective: The objective of this study was to determine whether a dietary vitamin E (VE) supplement could alleviate any detrimental effects of aged corn on lipid metabolism and antioxidant status in laying hens. Methods: The experiment consisted of a 2×3 factorial design with two corn types (normal corn and aged corn (stored for 4 yr) and three concentrations of VE (0, 20, and 100 IU/kg). A total of 216 Lohmann laying hens (50 wk of age) were randomly allocated into six treatment diets for 12 wk. Each treatment had 6 replicates of 6 hens per replicate. Results: The results show that aged corn significantly decreased the content of low-density lipoprotein cholesterol (p<0.05), and reduced chemokine-like receptor 1 (CMKLR1) mRNA expression (p<0.05) in the liver compared to controls. Diet with VE did not alter the content of crude fat and cholesterol (p>0.05), or acetyl-CoA carboxylase, lipoprotein lipase, fatty acid synthase or CMKLR1 mRNA expression (p>0.05) in the liver among treatment groups. Aged corn significantly increased the content of malondialdehyde (MDA) (p<0.05) and decreased superoxide dismutase (SOD) activity (p<0.05) in the liver. The VE increased the content of MDA (p<0.05) but decreased glutathione peroxidase (GSH-Px) activity in serum (p<0.01) and in the ovaries (p<0.05). Adding VE at 20 and 100 IU/kg significantly increased GSH-Px activity (p<0.05) in liver and in serum (p<0.01), 100 IU/kg VE significantly increased SOD activity (p<0.05) in serum. Aged corn had no significant effects on GSH-Px mRNA or SOD mRNA expression (p<0.01) in the liver and ovaries. Addition of 100 IU/kg VE could significantly increase SOD mRNA expression (p<0.01) in the liver and ovary. Conclusion: Aged corn affected lipid metabolism and decreased the antioxidant function of laying hens. Dietary VE supplementation was unable to counteract the negative effects of aged corn on lipid metabolism. However, addition of 100 IU/kg VE prevented aged corninduced lipid peroxidation in the organs of laying hens.