• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제18권2호
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• pp.121-127
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• 2015

Purpose: To evaluate clinical and laboratory profile of Wilson's disease (WD) in children. Methods: This cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period of 3 years. One hundred consecutive children of WD between 3 to 18 years of age were evaluated. Results: Mean age was $8.5{\pm}1.5years$. Male female ratio was 2:1. Ninety-one percent of patients were Muslim and 9% Hindu. A total of 53% cases of hepatic WD presented between 5 to 10 years of age and most of the neurologic WD manifested in 10-15 years age group. Sixty-nine children presented only with hepatic manifestations, 6 only with neurological manifestations, 14 with both hepatic and neurological manifestation, 10 children was asymptomatic and 1 patient presented with psychiatric features. WD presented as chronic liver disease (CLD) in 42%, CLD with portal hypertension in 34%, acute hepatitis in 20% and fulminant hepatic failure in 4% cases. Stigmata of CLD were found in 18% patients. Keiser-Fleischser ring was found in 76% total patients. Elevated serum transaminase was found in 85% cases, prolonged prothrombin time in 59% cases and hypoalbuminaemia in 53% cases. A total of 73% patients had low serum ceruloplasmin, basal urinary copper of >$100{\mu}g/day$ was found in 81% cases and urinary copper following penicillamine challenge of >$1,200{\mu}g/day$ was found in 92% cases. Conclusion: Majority of studied WD children presented with hepatic manifestation of which 76% presented with CLD. Any child presented with jaundice after the age of 3 years should be investigated for WD.

• Clinical and Experimental Pediatrics
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• 제51권5호
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• pp.538-541
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• 2008

멘케스병은 성염색체 열성으로 유전되는 질환으로 APT7A 유전자의 돌연변이에 의해 발생한다. 기전은 장에서의 구리 흡수와 운반에 결손이 있는 것으로 혈청 구리 및 ceruloplasmin 이 낮다. 특징적인 임상양상은 경련발작, 근육긴장저하, 저체온증을 나타내며 얼굴은 특징적으로 통통하며 저색소 피부색, 꼬이고 윤택이 없고 잘 부스러지는 머리카락을 보인다. 성장장애를 보이는 경우가 흔하며 심한 정신지체와 발달장애를 동반한다. 멘케스병에서 간비대가 간병증을 보이는 경우는 현재까지 보고되지 않았다. 저자들은 유전자 검사를 통해 멘케스병으로 확진된 4개월 소아가 영아연축, 발달장애, 머리카락 이상 외에도 이전에 잘 알려져 있지 않은 간비대를 보인 1례를 보고하는 바이다.

• 한국식품영양과학회지
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• 제42권10호
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• pp.1552-1559
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• 2013

본 연구에서는 미숙과와 성숙과의 복분자 섭취에 의한 쥐복강 대식세포의 염증반응을 조사하였다. 8주간 농도별 미숙과와 성숙과 복분자 식이를 섭취시킨 후 복강대식세포를 분리한 다음, LPS로 염증반응을 유도하여 염증매개 cytokines인 TNF-${\alpha}$, IL-$1{\beta}$, IL-6의 분비와 PGE2의 분비량을 측정하였으며, cDNA microarray 방법으로 유전자 발현을 측정하였다. 미숙과와 성숙과 복분자 섭취는 TNF-${\alpha}$의 생성을 유의적으로 억제하였으나, IL-$1{\beta}$, IL-6는 미숙과 복분자 섭취에 의해서만 감소하였으며 $PGE_2$의 분비에는 영향을 주지 않았다. 본 연구결과, 미숙과와 성숙과 복분자 섭취에 의해 8개의 유전자 발현이 감소된 것으로 확인되었는데, 이중 세포의 면역반응과 관련된 5-LOX, iNOS, IL-11의 발현이 유의적으로 감소되었으며, 만성질환 특히 심혈관계 질환을 유발하는 인자인 tPA, thrombospondin 1, ceruloplasmin과 암의 성장 및 전이와 관련된 VEGF A의 발현을 유의적으로 억제하였다. 한편 혐기성 관련 유전자의 발현을 억제하는 HIF3A의 발현을 유의적으로 증가시켰다. 또한 미숙과 복분자의 섭취만이 CCL8, CXCL14, PLA2의 발현을 감소시키는 것으로 나타났다. 따라서 복분자의 섭취, 특히 미숙과 복분자의 섭취는 항염증 효과를 보일 뿐 아니라 만성염증성 질환 관련 인자의 발현을 유의적으로 감소시키므로 이와 관련된 기능성 식품 개발에 활용될 수 있을 것으로 사료되며, 추후 복분자내 항염증 효능을 갖는 생리활성 성분에 대한 연구가 더 진행되어야 할 것으로 판단된다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제6권2호
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• pp.161-166
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• 2003

목 적: 상염색체 열성 유전 질환인 윌슨병에서 이형 접합 보인자인 부모를 공여자로 생체 부분 간이식을 시행 받은 윌슨병 환아의 치료 경험을 통해 이의 치료 효과를 알아보고자 본 연구를 실시하였다. 방 법: 1994년 12월부터 2002년 3월까지 서울아산병원에서 간이식을 시행받은 75명의 소아 중 윌슨병으로 간이식을 시행 받은 7명을 대상으로 수술 전후의 간 기능과 Kayser-Fleischer ring 소실 여부 및 구리 대사에 관련된 검사 소견 등을 중점으로 의무 기록을 통해 후향적으로 분석하였다. 결 과: 전체 7명의 환자 가운데 5명은 전격성 간염, 2명은 치료에 반응하지 않는 간경변으로 간이식을 받았으며, 공여자는 모두 혈연간 즉 이형 접합 보인자인 부모들이었다. 이식 후 추적 관찰 동안 환자의 생존율은 100%이었으며, 이는 같은 기간 동안 소아 간이식 전체 환자와 대사성 간 질환으로 간이식을 받은 환아의 각각의 5년 생존율 87%, 84%보다 유의하게 높았다(p<0.05). 간이식을 받은 모든 환자는 penicillamine과 구리 제한 식이를 시행하지 않고 이들의 AST치, 총 빌리루빈치 및 프로트롬빈 시간이 정상으로 회복되었고, 추적 관찰 기간 동안 윌슨병 재발의 소견은 없었다. 그리고 혈중 ceruloplasmin치와 혈중 구리 농도는 정상으로 회복되었으며, 24시간 소변 구리 배설양도수술 후 모든 환아에서 현저한 감소를 보였다. Kayser-Fleischer ring은 추적 관찰된 5명 중 4명에서 사라졌고, 추적 관찰이 3개월로 짧았던 한 명에서는 감소되었으나 남아 있었다. 결 론: 윌슨병이 내과적인 약물 치료에 반응하지 않는 간경변으로 진행하거나 전격성 간염으로 발현하여 간이식이 필요한 경우 윌슨병의 이형 접합 보인자인 부모를 이용한 혈연간 생체 부분 간이식은 효과적인 치료법임을 확인할 수 있었다.

• 농업과학연구
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• 제22권2호
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• pp.163-169
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• 1995

본 연구는 홀스타인종 유우의 혈청단백질 및 효소에 대한 유전적 구조를 분석하기 위하여, 혈청단백질인 post-transferrin-2(pTf-2), transferrin(Tf), post-albumin(pAlb) 및 albumin(Alb)과 혈청효소인 ceruloplasmin(Cp)와 amylase-I(Am-I)을 polyacrylamide gel electrophoresis(PAGE)와 starch g디 electrophoresis(STAGE) 방법으로 유전적 변이체를 분석하였다. 혈청단백질인 pTf-2 좌위는 pTf-2 F와 S 유전자에 의해 지배되는 pTf-2 FF, FS 및 SS 유전자형이 확인되었으며, 이들의 분포는 각각 76.34%, 14.50% 및 9.10%이었고, 유전자빈도는 pTf-2 F와 S가 각각 0.836 및 0.164이었다. 한편 Tf 좌위는 Tf A, D1, D2 및 E 유전자가 검출되었으며, 유전자형은 Tf AA, AD1, AD2, AE, D1D1, D1D2, D2D2 및 D2E형이 확인되었고, 이들의 분포는 각각 0.11, 32.06, 19.08, 1.53, 10.69, 18.32, 9.92 및 2.29%이었으며, 유전자빈도는 Tf A, D1, D2 및 E에서 각각 0.324, 0.359, 0.298 및 0.019이었다. 또한 pAlb 좌위는 pAlb F와 S 유전자가 검출되었고, 유전자형은 pAlb FF, FS 및 SS형이 확인되었으며, 이들의 분포는 각각 32.06, 29.77 및 38.17%이었고, 유전자빈도는 pAlb F와 S가 각각 0.469 및 0.531이었다. Alb 유전자 빈도에 있어서는 Alb A와 B가 각각 0.996 및 0.004이었다. 그리고 혈청효소인 Cp 좌위는 Cp F와 S 유전자가 검출되었으며, 유전자형은 Cp FF, FS 및 SS 형이 확인되었고, 이들의 분포는 각각 46.57, 27.48 및 25.95%이었으며, 유전자빈도는 Cp F와 S가 각각 0.603 및 0.394이었다. Am-I 좌위는 Am-I B와 C 유전자가 검출되었으며, 유전자형은 Am-I BB, BC 및 CC 형이 확인되었고, 이들의 빈도비율은 각각 39.69, 21.73 및 38.93% 이었으며, 유전자 빈도는 Am-I B와 C가 각각 0.503 및 0.497이었다.

• Asian-Australasian Journal of Animal Sciences
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• 제31권6호
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• pp.873-880
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• 2018

Objective: The objective of this experiment was to compare the effects of adding 130 mg/kg Cu from either copper sulfate (CS) or tribasic copper chloride (TBCC) on growth performance, mineral deposition in tissues, and the excretion in feces of pigs as well as changes in the mineral contents in tissues and feces when the supplemental Cu level was decreased from 130 mg/kg to 10 mg/kg. Methods: A total of 72 pigs ($32.6{\pm}1.2kg$) were randomly assigned to a CS diet or a TBCC diet with 6 pens per treatment. The trial lasted 102 d and included 3 phases (phase 1, 1 to 30 d; phase 2, 31 to 81 d; and phase 3, 82 to 102 d). The supplemental levels of Cu in the 2 treatments were 130 mg/kg in phase 1 and 2 and 10 mg/kg in phase 3. Results: The results showed that pigs fed the CS diet tended to have higher average daily gain than pigs fed the TBCC diet during d 1 to 81 (p<0.10). Compared with CS, TBCC increased the activities of aspartate transaminase (AST), ceruloplasmin, and superoxide dismutase in serum on d 30 (p<0.05). The TBCC decreased the Cu level in the liver on d 81 (p<0.05) and increased the Mn level in the liver on d 102 (p<0.05). The concentration of Cu in feces sharply decreased when the supplemental Cu level in diet changed from 130 mg/kg to 10 mg/kg in both diets (p<0.05). Conclusion: The result suggested that TBCC and CS had no significant difference on growth performance but TBCC had higher activities of AST and antioxidant enzymes and lower liver Cu than CS when pigs fed diets with 130 mg Cu /kg diet.

• Asian-Australasian Journal of Animal Sciences
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• 제23권7호
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• pp.907-915
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• 2010

Three hundred and seventy-three steers (approximately 7 mo of age and $247{\pm}19.4\;kg$) were utilized to determine the effects of trace mineral (TM) source and growth implants on trace mineral status. Steers were blocked by ranch, post-weaning treatment within ranch, stratified by initial body weight, and randomly assigned to one of 36 pens (9-12 head/pen). Treatment consisted of: I) control (no supplemental Cu, Zn, Mn, and Co), ii) inorganic trace minerals, and iii) organic trace minerals. Six pens of steers per treatment received a growth implant at the beginning of the experiment and were re-implanted during the finishing phase. The remaining steers received no growth implants. Steers were fed a corn silage-based growing diet for 56 d then were gradually switched to a high concentrate finishing diet. Treatments during the finishing phase consisted of: i) control (no supplemental Zn); ii) inorganic Zn (30 mg of Zn/kg DM from $ZnSO_4$); and iii) organic Zn (iso-amounts of organic Zn). By the end of the growing and finishing phases, implanted steers had greater (p<0.01) plasma Cu concentrations than non-implanted steers. During the growing phase, liver Cu concentrations (p<0.01) and plasma Zn concentrations (p<0.02) were greater in steers supplemented with TM compared to control steers. Steers supplemented with inorganic minerals had greater liver Cu concentrations than steers supplemented with organic minerals at the beginning (p<0.01) and end (p = 0.02) of the growing phase. During both the growing (p = 0.02) and finishing phases (p = 0.05), nonimplanted control steers had greater plasma Cu concentrations than non-implanted steers supplemented with TM, whereas, implanted control steers had similar plasma Cu concentrations than implanted steers supplemented with TM. Non-implanted steers that received inorganic TM had lower plasma Cu concentrations (p = 0.03) during the growing phase and ceruloplasmin activity (p<0.04) during the finishing phase than non-implanted steers that received organic TM, whereas, implanted steers supplemented with either organic or inorganic TM had similar plasma Cu concentrations.

• Reproductive and Developmental Biology
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• 제35권3호
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• pp.273-280
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• 2011

It was conducted the experiment, divided into three groups as normal, poor and polycystic ovary syndrome, to detect the change of protein patterns in follicular fluid on ovarian response following controlled ovarian hyperstimulation for human IVF outcome. In the normal group, it was confirmed reproducible 57 spots in the detected total 81 spots. Then 1 spot was not found in the other groups. In the poor responder group, it was found reproducible 53 spots in the detected total 98 spots. 6 spots were down-regulation and 7 spots were up-regulation comparable with normal group. There were not 5 spots in poor responder group comparable with other groups. In the polycystic ovary syndrome group, it was expressed reproducible 53 spots in the detected total 80 spots and 3 spots were just expressed in this group. However, 4 spots were not found in polycystic ovary syndrome. 9 spots were up-regulation comparable with normal group. Significant up and down-regulation spots among the each groups were identified. The results were a cytosolic carboxypeptidase, a signal-induced proliferation-associated protein 1, a ceruloplasmin, a keratin(type II cytoskeletal 1), a polypeptide N-acetylgalactosantinyltransferase 2, a serine/threonine-protein phosphatase 4 regulatory subunit 4. It was identified that 8 spots, 6 kinds of protein are corresponded with NCBInr database research, but 10 spots were failed in the identification. In conclusion, it has been confirmed change and expression of protein on the ovarian response following COH of human.

• Asian-Australasian Journal of Animal Sciences
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• 제23권8호
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• pp.1066-1072
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• 2010

In this study, the effects of replacing inorganic copper, zinc and manganese with different levels of organic complexes of the same trace minerals on the lipid peroxidation and antioxidant defense systems in broilers were investigated. Two-hundred Ross-308 one-day-old broiler chickens were placed on controlled diets until 42 d of age. The experimental animals were divided into four groups comprising three experimental groups and one control group, each consisting of 50 chickens. All groups were also divided into five subgroups each containing 10 broiler chicks. The mineral content of the control group diet was controlled using a standard inorganic mineral premix with supplement levels and sources of trace minerals typical of commercial broiler diets according to the National Research Council (NRC) (containing 8 mg Cu as $CuSO_4$, 40 mg Zn as $ZnSO_4$, and 60 mg Mn as MnO, per kg). In the experimental diets, mineral premix was also comprised of inorganic formulations, except for those of Cu, Zn and Mn. Organically-complexed Cu, Zn, and Mn were separately added to the basal diet at 1/3 (L1), 2/3 (L2) and 3/3 (L3) levels with respect to the NRC recommendation, as Bioplex $Cu^{TM}$, Bioplex $Zn^{TM}$, Bioplex $Mn^{TM}$. At the end of the trial, the plasma Zn level significantly increased when the plasma Cu level significantly decreased (p<0.05) in chickens fed at 2/3 and 3/3 levels of organically complexed minerals. The liver trace mineral concentrations were significantly higher in chickens fed inorganic trace minerals in comparison to those fed organically-complexed minerals. The plasma malondialdehyde (MDA) level of experimental chickens was decreased in groups receiving levels of organic Cu, Zn and Mn in comparison to those fed inorganic forms (p<0.01). The erythrocyte superoxide dismutase (SOD) activity was higher in all groups receiving the organic mineral supplements in comparison to those fed inorganic forms (p<0.01). No differences were observed on either the erythrocyte catalase (CAT) activity or the plasma ceruloplasmin (Cp) levels, and the liver MDA levels and liver CAT and SOD activities in any of the groups that received the organic supplements of Cu, Zn, and Mn. It was concluded that supplementation of lower levels of organically-complexed copper, zinc, and manganese instead of their inorganic forms in diets had no negative effects on the antioxidant defense system in broilers.

• Journal of Nutrition and Health
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• 제39권4호
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• pp.381-391
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• 2006

This study is performed to compare the dietary intakes and food sources of copper (Cu) using the database of Cu content developed in this study between the elementary schoolchildren in remote rural areas (RA, n=58, $9.9{\pm}1.7$ yrs) and those in urban area (UA, n=60, $9.4{\pm}1.8$ yrs), and to analyze the relationship between serum Cu concentration and serum antioxidant status in the RA. The results obtained in this study were as followings: 1) Dietary intakes of calorie, calcium and iron in the RA were in the 3/5-4/5 of the Korean RDA while the UA were similar to or more than the Korean RDA, 7th ed. except iron. 2) More than 273 kinds of food consumed by the subjects were analyzed the content of Cu and database of Cu content were developed in the present study. The mean dietary intake of Cu per day in the RA was $0.99{\pm}0.07mg/d$ ($170.0{\pm}13.2%$ of the USA RDA) while it was $1.22{\pm}0.07mg/d$ ($203.4{\pm}13.1%$ of the RDA) in the UA. The percentage of dietary intakes of Cu less than 213 of the RDA was 8.6% in the RA in comparison to 0% in the UA. 3) The RA and the UA consumed more than 80% of total dietary intakes of Cu from plant foods. Thus, the RA and the UA consumed Cu from cooked rice, vegetables and fruits as a major source. However the RA had less Cu from meat and their products than did the UA (p<0.05) .4) Crab stew including crab and juice was the highest food source of Cu for the total subjects, followed by seasoned bud of aralia, cooked; beef rib meat, roasted; soybean paste soup w/mallow; and soybean paste soup w/mallow & beef. Major food source of Cu was similar for the RA and the UA such as cooked rice, vegetables and fruits. 5) Mean concentration of serum Cu in the RA was $18.1{\pm}0.7{\mu}M/L$ that was in the normal value, and all subjects in this group were in more than normal value. In the RA serum Cu concentration related positively with serum ceruloplasmin concentration, serum vitamin C concentration and EC SOD activity, respectively. However, serum Cu concentration did not relate with serum TBARS concentration in the RA. Above results showed that the RA had good status of Cu nutrition based upon dietary intake and serum concentration, however some of the RA had lower intake of Cu than the RDA. The overall children in the UA had good Cu nutrition. Therefore, the subgroup of the RA should be supported to improve their Cu nutrition, and this support could give them better antioxidant status based upon positive relationship between serum Cu concentration and serum antioxidant status in the RA.