• Journal of Interdisciplinary Genomics
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• 제2권1호
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• pp.5-9
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• 2020

von Willebrand disease (VWD) is a genetic bleeding disorders caused by a deficiency of von Willebrand factor (VWF). Diagnosis or exclusion of VWD is not an easy task for most clinicians. These difficulties in diagnosis or exclusion of VWD may be due to preanalytic, analytical and postanalytic laboratory issues. Analytical systems to diagnose VWD may produce misleading results because of limitations in their dynamic range of measurement and low sensitivity. However, preanalytical issues such as sample collection, processing, and transportation affect the diagnosis of VWD profoundly. We will review here the common preanlytical issues that may impact the laboratory diagnosis of VWD.

• 한국임상수의학회지
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• 제30권5호
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• pp.359-362
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• 2013

6살령의 중성화된 숫컷 말티즈(4.16 kg)가 2일전 스켈링과 발치를 실시한 후 지속적인 구강내 출혈로 본원에 내원하였다. 환축은 폰 빌레브란트 인자 항원 평가 결과 54% (정상 범위 70%에서 180%)였으며, 유전된 폰 빌레브란트병를 가진 동형접합체로 판정되었다. 초기 치료를 위해 신선 전혈 수혈을 실시하였다. 수혈 후 환축은 임상증상이 개선되었으며 현재까지 건강한 상태이다. 본 증례는 한국내 말티즈에서 발생한 제 1형 폰 빌레브란트병의 첫 번째 진단 보고이다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제30권1호
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• pp.41-51
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• 2008

Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor which compromises about 6$\sim$8% of all tumors followed by the adenoid cystic carcinoma (ACC) and adenocarcinoma. Most deaths from salivary carcinomas are caused by recurrent or metastatic lesions that are resistant to conventional therapy. Therefore, knowledge of cellular properties and tumor-host interactions that influence the vascular metastasis is important for the design of more effective therapy of salivary carcinomas. Neoangiogenesis is essential for tumor growth, which is postulated to be fundamentally dependent on the induction of stromal neovascularization. However, how neovascularization takes place in live tissue has not been fully established, especially in recruitment and differentiation of endothelial cells in the salivary gland tumors. Vascular endothelial growth factor (VEGF) is a heparin-binding, dimeric polypeptide growth factor known to exert its mitogenic activity specifically on endothelial cells. VEGF has been shown th be directly involved in angiogenesis, which in essential for the pathogenesis of many solid tumors. von Willebrand factor (vWF) is a large multimeric protein synthesized by megakaryocytes and endothelial cells that enable platelets to adhere to exposed subendothelium and, as well, to respond to changes in the blood flow. Recent studies suggest that increased levels of vWF correlate with progression of disease, metastasis, or survival time and thus may have a prognostic significance. vWF is explained as an acute phase proteins which is increased in cancer or as a result of increased endothelial cell synthesis associated with tumor-induced angiogenesis. Due to adhesive properties of vWF, its increased concentrations may also contribute metastasis of tumor. In this study, we determined the mRNA expression of VEGF and vWF in salivary ACC, MEC and pleomorphic adenoma by in situ hybridization. As a result, stronger expression of VEGF and vWF was seen in salivary ACC and MEC which has more invasive nature than the salivary benign tumor.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.126-132
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• 2005

Glanzmann's thrombasthenia는 혈소판 표면의 fibrinogen과 von Willebrand factor(vWF)의 수용체인 당단백 ${\alpha}_{IIb}{\beta}_3$의 결함으로 인해 ristocetin을 제외한 모든 agonist들에 대해 응집 이상을 보여 혈소판 수와 형태는 정상이면서 심한 출혈 시간의 연장을 가져오는 상염색체 열성 유전 질환이다. 저자들은 II형 Glanzmann's thrombasthenia로 진단된 4세 여아에서 ${\beta}_3$ 유전자의 이상 중 보고되지 않은 부위의 이상을 최초로 밝혔기에 문헌 고찰과 함께 보고하는 바이다.

• 한국동물위생학회지
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• 제30권4호
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• pp.539-544
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• 2007

A 7-year-old intact female Golden Retriever was presented for examination. The dog had large irregular subcutaneous masses in the abdomen which were ruptured or encapsulated. Those were removed surgically. Histopathologically, the masses consisted of spindle cells that often formed distinct whorls around a central capillary. Immuno-histochemical analysis revealed that the neoplastic cells were strong diffuse cyto-plasmic immunolabelling for vimentin and focal immunoreactivity for smooth muscle actin, whereas not immunoreactive for cytokeratin, desmin, von Willebrand factor, glial fibrillary acidic protein, or S-100. The neoplastic cells ultrastructurally had processes attached by desmosome-like structures, swollen mitochondria and dilated rough endoplasmic reticulum. Based on the above results, this case was diagnosed as a canine hemangiopericytoma in the abdominal subcutis of a Golden Retriever.

• Journal of Korean Neurosurgical Society
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• 제58권2호
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• pp.137-140
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• 2015

The most common neurologic manifestations of polycythemia vera (PV) are cerebral infarction and transient ischemic attacks, while cerebral hemorrhage or intracranial dissection has been rarely associated with PV. Here we report the first case of a 59-year-old patient with intracranial supraclinoid internal carotid artery (ICA) dissection causing cerebral infarction and concomitant subarachnoid hemorrhage due to pseudoaneurysm rupture as clinical onset of PV. This case report discusses the possible mechanism and treatment of this extremely rare condition.

• 한국임상수의학회:학술대회논문집
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• 한국임상수의학회 2006년도 춘계학술대회
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• pp.170-170
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• 2006

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제13권1호
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• pp.23-29
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• 2010

목 적: 본 연구에서는 소아의 내시경 시술 전 출혈의 위험성을 예측하는 검사로 혈소판과 혈액 응고 검사의 임상적 의의를 평가하고자 하였다. 방 법: 2004년 3월부터 2009년 12월까지 분당서울대학교병원 소아청소년과 외래 및 입원 환자 중에서 위장관 내시경 검사를 시행 받은 소아청소년 환자의 의무기록과 혈소판 수치 및 혈액 응고 검사 결과들을 후향적으로 분석하였다. 결 과: 총 1,476건의 검사 결과, 혈소판 수치가 정상보다 낮은 경우는 1명이었고, PT INR만이 비정상으로 연장된 경우가 25건(1.7%)이었고, aPTT만 연장된 경우가 132건(9%)이었고, 둘 다 연장된 경우가 5건(0.3%)이었다. aPTT 결과가 비정상이었던 경우에 혈액 응고 인자 검사를 시행한 경우가 14건이었고, 이 중 혈액 응고인자 XII 결핍증으로 진단된 경우가 7명, 폰 빌레블란드 병으로 진단된 경우가 1명, 폰 빌레블란드 병과 혈액 응고 인자 XII 결핍증이 동시에 나타난 경우가 1명, 경증의 A형 혈우병이 의심된 경우가 1명이었으며, 나머지 4명은 정상이었다. 혈액 응고 질환으로 진단된 환자를 포함하여 내시경 시술을 받은 모든 소아 환자에서 의미 있는 출혈 합병증이 나타난 경우는 없었다. 결 론: 소아 내시경 사전 검사로 시행하는 혈액 응고검사에서 일부 이상 소견이 확인되더라도 실제 혈액 응고 질환으로 진단되는 경우는 드물고, 혈액 응고 질환으로 진단된 환자에서조차 내시경 시술에 의한 출혈 합병증이 나타나지 않았다. 따라서 내시경 시술 전에 모든 환자를 대상으로 혈액 응고 검사 및 혈소판 검사를 반드시 시행할 필요는 없을 것으로 여겨지며, 출혈 경향을 나타내는 과거력과 가족력이 있는 소아와 이전에 혈액 응고 검사를 한 번도 시행 받지 않았던 영유아 환자에서 내시경 시술 전에 혈액 응고 검사를 시행하는 것이 바람직할 것이다.

• The Korean Journal of Physiology and Pharmacology
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• 제19권1호
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• pp.35-42
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• 2015

In cardiovascular disorders, understanding of endothelial cell (EC) function is essential to elucidate the disease mechanism. Although the mouse model has many advantages for in vivo and in vitro research, efficient procedures for the isolation and propagation of primary mouse EC have been problematic. We describe a high yield process for isolation and in vitro culture of primary EC from mouse arteries (aorta, braches of superior mesenteric artery, and cerebral arteries from the circle of Willis). Mouse arteries were carefully dissected without damage under a light microscope, and small pieces of the vessels were transferred on/in a Matrigel matrix enriched with endothelial growth supplement. Primary cells that proliferated in Matrigel were propagated in advanced DMEM with fetal calf serum or platelet-derived serum, EC growth supplement, and heparin. To improve the purity of the cell culture, we applied shearing stress and anti-fibroblast antibody. EC were characterized by a monolayer cobble stone appearance, positive staining with acetylated low density lipoprotein labeled with 1,1'-dioctadecyl-3,3,3',3'-tetramethyl-indocarbocyanine perchlorate, RT-PCR using primers for von-Willebrand factor, and determination of the protein level endothelial nitric oxide synthase. Our simple, efficient method would facilitate in vitro functional investigations of EC from mouse vessels.

• Journal of Nutrition and Health
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• 제35권1호
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• pp.5-14
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• 2002

Alteration in the syntesis or enhanced inactivation of nitric oxide(NO) can induce impairment of endothelial cell function. Insulin dependent diabetes mellitus(IDDM) is characterized by impaired endothelial function and vascular disease. NO is produced through L-arginine pathway To elucidate the hypothesis that the decreased production on NO in IDDM reflects vascular damage and the NO production can be manipulated by either dietary fat(7% of kg diet) or the oral supplementation with L-arginine(2g/kg bw), plasma markers for vascular endothelial damage and plasma lipid profiles were measured in streptozotocin(STZ)-induced diabetic rats. Diabetic or normal Sprague-Dawley rats were fed 6 different experimental diets for 4 weeks(SO : soybean oil, SOA: soybean oil + L-arginine supplementation, BT : beef tallow, BTA_ beef tallow + L-arginine supplementation, OV olive oil, OVA : olive oil + L-arginine supplementation). Plasma glucose, total cholesterel, HDL-cholesterol, LDL-cholesterol and triglyceride were measured. Endothelial markers, plasma von Willebrand factor(vWf), thromboxane B$_2$, and 6-keto PGF1$\alpha$ of aorta were measured by ELISA. Plasma NO production was evaluated through the measurement of nitrite by EIA. Feeding saturated fatty acid(SFA, BT) increased relative liver size(RLS) in diabetic rats compared to either polyunsatunted fatty acid(PUFA, SO) or monounsaturated fatty acid(MUFA, OV) The supplementation of L-arginine inhibited the liver and kidney enlargement in olive oil find diabetic rats. Plasma glucose was lower in diabetic animal find the olive oil compared to fed beef tallow and the supplementation L-arginine decreased it in diabetic rats find beef tallow significantly(p < 0.05). Plasma TXB$_2$ levels were increased due to diabetes and the value of beef tallow group showed highest value. Plasma vWf concentration of beef tallow group was higher value in normal rats and was elevated more in diabetes. In diabetic groups, the vWf concentration of olive oil group was lower than beef tallow or soybean oil group. The supplementation of L-arginine in diabetic rats decreased plasma TXB$_2$ and vWf levels significantly(p < 0.05). NO production was higher in normal olive oil fed rats and was tend to be decreased in diabetic rats and the supplementation of L-arginine recovered to normal value(p < 0.05), Olive oil supplemented with L-arginine tended to lower plasma total cholesterol and LDL-cholesterol after 4 week treatment. These results suggest that generalized vascular endothelial changes based on plasma TXB$_2$and vWf occurs in diabetic rats. and olive oil with L-arginine supplementation contributes to a better control of the hyperglycemia, endothelial changes and hypercholesterolemia accompanying diabetes as compared with beef tallow or soy bean oil in this rat model.