• Journal of Chest Surgery
• /
• 제46권6호
• /
• pp.464-466
• /
• 2013

Floating thrombi in the aortic arch are very rare and an unusual source of systemic embolism. Herein, a case of a 3-cm thrombus in the aortic arch is reported. It was a floating, highly mobile thrombus attached to the lesser curvature of the aortic arch. The patients had a hypercoagulable disorder induced by protein C and S deficiency. The thrombus was operatively removed with a favorable outcome.

• 대한유전성대사질환학회지
• /
• 제16권2호
• /
• pp.109-114
• /
• 2016

Carbamoyl phosphate synthetase 1 (CPS1) 결핍은 상염색체 열성 유전을 하는 매우 드문 유전질환으로, 요소 회로의 첫 번째 효소인 carbamoyl phosphate synthetase의 결핍에 의해 고암모니아혈증을 유발한다. CPS1 결핍은 신생아시기부터 성인까지 다양한 시기에 고암모니아혈증이 발현될 수 있으나 대부분 신생아 시기의 치명적인 고암모니아혈증으로 발현하여 예후가 불량하며 응급 투석 및 집중 치료가 필요하다. 본 증례는 드문 유전 질환인 CPS1 결핍 신생아에서 새로운 CPS1 유전자의 돌연변이를 발견하였고 조직적인 팀 접근을 통해 심각한 고암모니아혈증에 대한 신속한 투석 및 집중 치료를 시행하여 심한 뇌 병변 및 사망을 예방하고 양호한 경과를 보였음을 보고하는 바이다.

• 한국발생생물학회지:발생과생식
• /
• 제11권3호
• /
• pp.253-261
• /
• 2007

Lactadherin은 모유의 유지방구막의 당단백질의 하나로 mucin, butyrophilin과 결합된 복합체이다. 특히 모유중의 mucin과 lactadherin은 출생 직후 면역력이 약한 유아를 병균의 침입으로부터 효율적으로 방어하여 초기 유아의 생존과 성장 및 발달에 매우 중요한 역할을 수행한다. Lactadherin은 유아 설사의 원인이 되는 rotavirus의 번식과 성장을 억제한다. 아울러 이 단백질은 새로운 혈관의 형성을 촉진하는 주요한 단백질로 알려져 있으며, 이 단백질의 결핍이 치매의 발생과 관련되는 것으로 보고되고 있다. 본 연구는 이처럼 중요성이 강조되는 lactadherin에 대한 생화학적 및 생리학적인 연구를 하기 위한 기초연구를 진행하였다. 한국 여성의 유선조직에서 mRNA를 분리하였고, 1.2 kb lactadherin cDNA 유전자를 cloning하여 염기서열과 아미노산 배열을 결정하였다. 이 cDNA를 pET vector에 삽입하여 E. coli에서 43 kD 단백질을 발현시켰으며 Western blot으로 확인하였으며, 이 단백질을 정제하여 토끼에서 항체를 생산하여, 한국 여성의 모유에서 발현되는 70, 55, 46, 30 kD의 band를 확인하였다. 아울러 백인 여성의 lactadherin 유전자와 한국 여성의 정상 및 유방암 조직의 유전자 비교에서 다양한 SNP가 관찰되었고 변이의 다형성이 관찰되었다.

• Journal of Animal Science and Technology
• /
• 제44권6호
• /
• pp.727-738
• /
• 2002

본 시험은 각각의 필수아미노산 결핍사료 섭취에 의한 단기간의 섭식반응과 methionine 결핍(-Met) 사료 섭취시 뇌내 각 부위에 나타나는 Fos 면역반응을 조사하여 아미노산 결핍이 뇌내 섭식반응과 관련있는 부위를 명확히 알고자 수행하였다. 실험사료의 단백질원은 정제아미노산을 이용하였다. 시험에 이용된 모든 사료의 질소원은 순수 아미노산 혼합물을 이용하였으며, 사료내 단백질 함량은 15%로 하였다. 사료는 하루 6시간 동안 섭취하도록 적응을 시켰으며(17:00${\sim}$21:00, meal feeding method), 사료섭취량과 증체량은 사료급여 7일째부터 매시간 측정하였다. 실험 1에서는 각 필수아미노산 결핍사료가 사료섭취량, 체중 변화 및 섭식패턴에 미치는 영향을 관찰하였고, 실험 2에서는 Fos 면역조직 화학적 방법을 사용하여 methio- nine 결핍사료에 대하여 회피 반응을 나타내는 동안에 활성을 보이는 뇌의 영역을 확인하였다. 각 필수아미노산 결핍사료 섭취에 따른 초기 섭식 억제 정도는 methionine이 가장 강하게 나타난 반면 threonine이 가장 약하였다. 결핍사료 급여 3일째의 사료섭취량은 대조구 사료에 비하여 histidine(71%), leucine(68%), isoleucine (66%), threonine(63%), tryptophan(61%), valine (55%), phenylalanine(52%), methionine(51%), lysine(44%), arginine(24%) 순으로 억제되었다. 뇌 신경 영역에 Fos 면역활성은 PPC, amygdala 및 endopyriform cortex(EPC) 부분이 대조구에 비하여 강한 활성을 나타냈으나, LH, VMH 및 PVM에서는 대조구와 처리구가 비슷하게 나타냈다. 따라서 본 연구의 결과로 미루어 뇌내 PPC는 필수아미노산 결핍에 반응하는 초기 인식부위라는 것을 확인할 수 있었다.

• 대한유전성대사질환학회지
• /
• 제18권2호
• /
• pp.55-61
• /
• 2018

OTC 결핍증은 요소 회로 대사 질환 중 가장 흔한 질환으로, X연관 유전을 하며, 고암모니아 혈증, 의식저하, 구토, 경련 등을 주증상으로 하여 나타난다. 본 증례에서는 경련 및 의식 저하로 발견된 고암모니아 혈증 및 저칼슘혈증에 대한 치료로 칼슘 보충 및 저단백섭취, sodium benzoate, phenylbutyrate sodium, L-arginine 복용 및 CRRT를 시행하여 증상을 경감시키고, 생화학적 검사 및 Targeted exome sequencing을 통하여 OTC 결핍증을 확진함으로서 신경학적 예후에 대비하도록 하였다. 이로서 현재까지 비교적 양호한 경과를 보이기에 이 증례를 보고하는 바이다.

• 한국응용약물학회:학술대회논문집
• /
• 한국응용약물학회 1996년도 제4회 추계심포지움
• /
• pp.75-84
• /
• 1996

Platelets from a patient with a mild inherited bleeding disorder and abnormal platelet aggregation and secretion show reduced generation of inositol 1,4,5-trisphosphate (IP$_3$), mobilization of intracellular Ca$\^$2+/, and phosphorylation of pleckstrin in response to several G protein mediated agonists, suggesting a possible defect at the level of phospholipase C (PLC) activation. A procedure was developed that allows quantitation of platelet PLC isozymes. After fractionation of platelet extracts by high-performance liquid chromatography, seven, out often known PLC isoforms were detected by immunoblot analysis. The amount of these isoforms in normal platelets decreased in the order PLC-${\gamma}$2 > PLC-${\beta}$2 > PLC-${\beta}$3 > PLC-${\beta}$l > PLC-${\gamma}$ > PLC-$\delta$1 > PLC-${\beta}$4. Compared with normal platelets, platelets from the patient contained approximately one-third the amount of PLC-${\beta}$2, whereas PLC-${\beta}$4 was increased threefold. These results suggest that the impaired platelet function in the patient in response to multiple G protein mediated agonists is attributable to a deficiency of PLC-${\beta}$2. They document for the first time a specific PLC isozyme deficiency in human platelets and provide an unique opportunity to understand the role of different PLC isozymes in normal platelet function.

• 한국응용약물학회:학술대회논문집
• /
• 한국응용약물학회 1998년도 Proceedings of UNESCO-internetwork Cooperative Regional Seminar and Workshop on Bioassay Guided Isolation of Bioactive Substances from Natural Products and Microbial Products
• /
• pp.198-198
• /
• 1998

Muc1 mucin is found in a variety of epithelial tissue and is overexpressed in several epithelial cancer. Recently it is alsol reported that primary Hamster tracheal surface epithelial(HTSE) cells express Muc1 protein and cDNA encoding HTSE muc1 protein has been cloned. Although numerous monoclonal antibodies (mAbs) to human muncins, particularly Muc1 have been produced, no such antibodies to murine Muc1 have been described. We now describe monoclonal antibody, called mAb M1CT, produced to C-terminal region of HTSE Muc1 protein by immunising mice with a glutathion-s-transferase linked fusion protein. In this study, using this antibody(mAb M1CT) we investigated the effect of RA on the expression of Muc1 in HTSE cells. Retinoic acid(RA) plays an essential role in maintaining normal differentiation of tracheal epithelial cells. With RA-deficiency tracheocytes undergo squamous metaplasia, an abnormal differentiation that can be reversed by RA. We had primary culture of HTSE cells under different concentrations of RA. Culture was maintained until the direction of differentiation was determined. Then Western blot analysis with mAb M1CT was performed with the cell lysates from the culture. The expression of Muc1 protein was decreased in dose-dependent manner as the concentration of retinoic acid was decreased. Our result indicates that the expression of Muc1 protein is coordinately regulated with airway mucous cell differentiation by RA pathway. And the antibody, mAb M1CT, produced in this study should provide useful tool to study the expression of Muc1 mucin in differentiation process or disease.

• BMB Reports
• /
• 제35권2호
• /
• pp.213-219
• /
• 2002

Malonyl-CoA decarboxylase (E.C.4.1.1.9) catalyzes the conversion of malonyl-CoA to acetyl-CoA. Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. Here, we isolated a cDNA clone for malonyl CoA decarboxylase from a rat brain cDNA library, expressed it in E. coli, and characterized its biochemical properties. The full-length cDNA contained a single open-reading frame that encoded 491 amino acid residues with a calculated molecular weight of 54, 762 Da. Its deduced amino acid sequence revealed a 65.6% identity to that from the goose uropigial gland. The sequence of the first 38 amino acids represents a putative mitochondrial targeting sequence, and the last 3 amino acid sequences (SKL) represent peroxisomal targeting ones. The expression of malonyl CoA decarboxylase was observed over a wide range of tissues as a single transcript of 2.0 kb in size. The recombinant protein that was expressed in E. coli was used to characterize the biochemical properties, which showed a typical Michaelis-Menten substrate saturation pattern. The $K_m$ and $V_{max}$ were calculated to be $68\;{\mu}M$ and $42.6\;{\mu}mol/min/mg$, respectively.

• Journal of Nutrition and Health
• /
• 제35권10호
• /
• pp.1053-1059
• /
• 2002

In post-genome period, the technique for identifying gene expression has been changed to high throughput screening. In the field of molecular nutrition, the need for this technique to clarify molecular function of the specific nutrient is essential. In this study, we have tested the zinc-regulated gene expression in zinc-deficient U937 cells, using cDNA microarray which is the cutting-edge technique to screen large numbers of gene expression simultaneously. The study result can be used for the preliminary gene screening data for clarifying, using monocyte U937 cell line, molecular Zn aspect in atherosclerosis. U937 cells were cultured in Zn-adequate (control, 12 $\mu$M Zn) or Zn-deficient (experimental, 0 $\mu$M Zn) ESMI media during 2 days, respectively. Cells were harvested and RNA was extracted. Total RNA was reverse-transcriptinized and synthesized cDNA probe labeled with Cy-3. fluorescent labeled cDNA probe was applied to microarray slide for hybridization slide, and after then, the slide was scanned using fluorescence scanner. ‘Highly expressed genes’ in Zn-deficient U937 cells, comparing to Zn-adequate group, are mainly about the genes for motility protein, immune system protein, oncogene and tumor suppressor and ‘Less highly expressed genes’ are about the genes for transcription, apoptosis associated protein, cell cycle, and several basic transcription factors. The results of this preliminary study imply the effectiveness of cDNA microarray for expression profiling of a singly nutrient deficiency, specially Zn. Furthur study, using tailored-cDNA array and capillary endothelial cell lines, would be beneficial to clarify molecular Zn function, more in detail.

• Asian-Australasian Journal of Animal Sciences
• /
• 제14권1호
• /
• pp.70-76
• /
• 2001

This experiment was conducted to investigate the effects of crystalline isoleucine supplementation of a low protein, corn-soybean meal diet on the performance and immune function of weanling pigs. Forty-five crossbred ($Duroc{\times}Landrace{\times}Large\;White$) piglets, weighing an average of $11.00{\pm}0.07kg$, were assigned to either a control diet containing 20% crude protein (0.64% isoleucine), a 16% crude protein diet without isoleucine supplementation (0.41% isoleucine) or a 16% crude protein diet supplemented with isoleucine (0.64% isoleucine). Reducing the crude protein content of the diet from 20 to 16% significantly (p<0.05) reduced both average daily gain and feed intake. Feed conversion also tended (p=0.07) to be poorer for a low protein diet without isoleucine supplementation. Isoleucine supplementation of the 16% crude protein diet increased both gain and feed intake to a level similar to that obtained by pigs fed the 20% crude protein diet (p>0.05). Blood urea nitrogen, serum total protein and serum globulin were significantly (p<0.05) higher for pigs fed the unsupplemented 16% crude protein diet than for pigs fed the isoleucine-supplemented diet or the control. Egg albumin antibody titre decreased significantly (p<0.05) in pigs fed the diet with isoleucine supplementation, whereas the antibody titre of pigs fed the low protein and low isoleucine diet was similar to that of pigs fed the diet containing 20% crude protein and 0.64% isoleucine. It was suggested that crystalline isoleucine supplementation of a low protein and low isoleucine diet improved pig performance but suppressed humoral immune function.