• Journal of Genetic Medicine
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• v.16 no.1
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• pp.43-47
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• 2019

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identified in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodontitis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without definite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inflammation processes such as changes in brain white matter.

• Archives of Plastic Surgery
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• v.43 no.1
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• pp.10-18
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• 2016

Background Lymphatic malformation (LM) is a form of congenital vascular malformation with a low incidence. Although LM has been studied, no consensus has emerged regarding its cause or treatment. Methods In this study, we retrospectively evaluated 40 patients who visited our vascular anomalies center for the treatment of cervicofacial LM, which is a common manifestation of LM. The medical records of patients over a period of 12 years were reviewed and analyzed for commonalities regarding the diagnosis and the results of treatment. Results Suspected cervicofacial LM was confirmed through imaging studies. No difference in incidence was observed according to sex, and 73% of patients first presented with symptoms before the age of two years. The left side and the V2-V3 area were most commonly affected. No significant differences in incidence were observed among the macrocystic, microcystic, and combined types of LM. A total of 28 out of 36 patients received sclerotherapy as the first choice of treatment, regardless of the type of lesion. Complete resolution was achieved in only 25% of patients. Conclusions LM is important to confirm the diagnosis early and to choose an appropriate treatment strategy according to the stage of the disease and each individual patient's symptoms. When treatment is delayed or an incorrect treatment is administered, patient discomfort increases as the lesion gradually spreads. Therefore, more so than is the case for most other diseases, a team approach on a case-by-case basis is important for the accurate and appropriate treatment of LM.

• Journal of Life Science
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• v.18 no.11
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• pp.1513-1520
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• 2008

The 4-Hydroxynonenal (HNE) affects vascular dysfunctions probably through the interruption of the cellular redox balance. To better understand vascular abnormalities resulting from the accumulation of HNE, we delineated mechanism by which mitochondrial apoptosis occurs in the YPEN-1 endothelial cells. HNE treatment led to the loss of mitochondrial membrane potential (${\delta}{\Psi}_m$), resulting in the release of cytochrome c. Data showed decreased Bcl-2 and increased Bax protein levels in HNE-treated cells. NAC, a reactive oxygen species (ROS) scavenger, and penicillamine, the peroxynitrite scavenger, blocked HNE-mediated ROS generation, thereby thwarting the cytochrome c release and apoptosis. The treatment of the cells with zVAD-fmk, a broad range caspase inhibitor did not suppress HNE-induced apoptosis, suggesting that the apoptosis might be the possibility of caspase-independent process. Our findings delineate the underlying mechanism of the HNE induced endothelial apoptosis by triggering depolarization of mitochondria membrane potential that can lead to the deterioration of vasculature homeostasis and subsequent vascular dysfunction with aging.

• Journal of the Korean Society of Radiology
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• v.82 no.4
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• pp.1018-1023
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• 2021

A meandering pulmonary vein (MPV) is a rare pulmonary vascular anomaly characterized by an abnormal course of the pulmonary vein draining into the left atrium. We report the case of a 55-year-old female who was diagnosed with a right MPV on pulmonary angiography. Enhanced chest CT revealed a vascular structure with an abnormal course that drained into the right superior pulmonary vein in the right upper lobe, which resembled a pulmonary arteriovenous malformation (AVM). Pulmonary angiography performed to discriminate between an MPV and pulmonary AVM showed no feeding artery, normal parenchymal staining, and drainage to the left atrium via the culprit vessel. Thus, the patient was diagnosed with MPV. When an MPV is difficult to differentiate from other vascular anomalies on enhanced chest CT, pulmonary angiography can be helpful. By recognizing the angiographic findings of an MPV, unnecessary treatment can be prevented.

• Investigative Magnetic Resonance Imaging
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• v.8 no.1
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• pp.17-23
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• 2004

Purpose : To evaluate changes in total cerebral blood flow (tCBF) with aging, parenchymal volume changes and vascular abnormalities, using 2 dimensional (D) phase-contrast magnetic resonance imaging (PC MRI). Materials and Methods : Routine brain MRI including T2 weighted image, time-of-flight (TOF) MR Angiography (MRA) and 2D PC MRI were performed in 73 individuals, including 12 volunteers. Normal subjects (12 volunteers, and 21 individuals with normal MRI and normal MRA) were classified into groups according to age (18-29, 30-49 and 50-66 years). For the group with abnormalities in brain MRIs, cerebral parenchymal volume changes were scored according to the T2 weighted images, and atherosclerotic changes were scored according to the MRA findings. Abnormal groups were classified into 4 groups: (i) mild reduction in volume, (ii) marked reduction in volume by parenchymal volume and atherosclerotic changes, and (iii) increased volume and (iv) Moya-moya disease. Volumetric flow was measured at the internal carotid artery (ICA) and vertebral artery bilaterally using the velocity-flow diagrams from PC MRI, and combined 4 vessel flows and tCBF were compared among all the groups. Results : The age-specific distribution of tCBFs in normal subjects were as follows: $12.0{\pm}2.1ml/sec$ in 18-29 years group, $11.8{\pm}1.9ml/sec$ in 30-49 years group, $10.9{\pm}2.2ml/sec$ in 50-66 years group. The distribution of tCBFs in the different subsets of the abnormal population were as follows: $9.5{\pm}2.5ml/sec$ in the group with mild reduction in volume, $7.6{\pm}2.0ml/sec$ in the group with marked reduction in volume, and $7.3{\pm}1.2ml/sec$ and $7.0{\pm}1.1ml/sec$ in the increased parenchymal volume and Moya-moya disease groups respectively. Conclusion : Total cerebral blood flow decreases with increasing age with a concomitant reduction in parenchymal volumes and increasing atherosclerotic changes. It is also reduced in the presence of increased parenchymal volume and Moya-moya disease.2D PC MRI can be used as a tool to evaluate tCBF with aging and in the presence of various conditions that can affect parenchymal volume and cerebral vasculature.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.640-648
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• 2005

Purpose : Kawasaki disease(KD) is known as an acute multi-systemic vasculitis with various immunologic abnormalities. Adhesion of leukocyte to endothelial cells is a key event in the sequence of inflammatory response. This study was performed to investigate the clinical significance of serum soluble intercellular adhesion molecule-1(sICAM-1) and soluble vascular cell adhesion molecule-1 (sVCAM-1) in acute and subacute stages of typical KD for diagnostic and prognostic value. Methods : A typical KD group was 32 patients who were hospitalized from Jan. 2002 to Jun. 2004 was enrolled. Control was 16 non-KD patients with febrile illness. sICAM-1 and sVCAM-1 were measured and compared by Echocardiographic and clinical findings and cardiac troponin T and I. Results : sICAM-1 and sVCAM-1 levels of acute KD were significantly elevated over control(P=0.019 vs. P=0.049, respectively) and sICAM-1 was significantly decreased in subacute stage(P=0.0015). sICAM-1 and sVCAM-1 had positive correlation with each other in both stages(P=0.0067, P=0.015, retrospectively). Neither sICAM-1 nor sVCAM-1 correctly reflected the coronary abnormalities and responsiveness to intravenous gammaglobulin(IVGG) in both stages. But sVCAM-1 was significantly increased in the carditis group in both stages(P=0.025, P=0.014, retrospectively) and had a positive correlation with troponin T(r=0.63, P=0.00063). Conclusion : The levels of sICAM-1 and sVCAM-1 were not very useful tools for detecting and predicting subsequent coronary abnormalities and responsiveness to IVGG in KD patients. However, sVCAM-1 appears to play a significant role in carditis of KD. Further studies are needed about various adhesion molecules and cytokines in the pathogenesis of KD.

• Clinical and Experimental Pediatrics
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• v.50 no.10
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• pp.995-1004
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• 2007

Purpose : Kawasaki disease is a systemic vasculitis, leading cause of pediatric acquired heart disease. Vascular endothelial growth factor (VEGF) has functions as vascular permeability factor, plays an important role in coronary artery lesion (CAL). We studied the clinical significance of serum VEGF in Kawasaki disease. Methods : Kawasaki group was 49 patients, and control group was 15 patients. Diagnosis followed AHA (American Heart Association) diagnostic criteria, with blood sampling in acute, subacute, and convalescent phase. Echocardiographic abnormalities were defined and the definition of intravenous gamma globulin (IVGG)-responsive and IVGG-resistant was determined. Results : Serum VEGF of Kawasaki group was significantly higher than of control group. Comparison of serum VEGF between CAL and non-CAL group, between carditis group and non-carditis group showed no significant differences. Subacute serum VEGF was statistically higher in IVGG-resistant group than in IVGG-responsive group, and serum VEGF of IVGG-resistant group in subacute phase was statistically higher than in the other phases. Serum VEGF of convalescent CAL and non-CAL group in acute and subacute phase had meaningful differences. Total fever duration and subacute serum VEGF had positive correlation. Acute serum VEGF had positive correlation with ESR and CRP, all phases serum VEGF had also positive correlation with WBC. Acute and subacute serum VEGF had negative correlations with hemoglobin and albumin. Conclusion : Serum VEGF can help to determine the severity of Kawasaki disease, especially subacute serum VEGF seems to be used as a prognostic factor of coronary complication. Afterward, further studies needed with more strict diagnostic criteria and more study groups.

• The Korean Journal of Nuclear Medicine
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• v.31 no.1
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• pp.50-56
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• 1997

Gated SPECT can evaluate the regional wall motion of the heart. We evaluated the regional wall motion of the perfusion abnormality in conventional perfusion SPECT with gated SPECT. In case of suspicious perfusion abnormalities, we tried to differentiate the artifact from true abnormality in coronary vascular disease using gated SPECT. We thought that artifacts would have normal wall motion, whereas fixed defects with decreased wall motion would probably represent coronary artery disease. A total of 275 patients who were performed coronary angiography and T1-201 rest/Tc-99m MIBI dipyridamole stress gated SPECT within 2 months were enrolled. In coronary angiography, stenosis more than 50% was considered as coronary artery disease. After injection of 111MBq T1-201 rest image was obtained on triple head SPECT system. 370MBg Tc-99m MIBI was used for the stress image. Eight-frame per-cardiac-cycle gated Tc-99m SPECT studies were done. All the images were analyzed visually. Using perfusion SPECT, the overall sensitivity and specificity were 87% and 55% respectively. Regarding artery territory, sensitivity and specificity were 68% and 73% for left anterior descending artery(LAD), 62% and 78% for right coronary artery(RCA), 42% and 90% for left ciramflex artery(LCX). Using gated SPECT, the overall sensitivity and specificity were 87% and 66% respectively. Sensitivity and specificity were 68% and 78% for LAD, 62% and 79% for RCA, 42% and 90% for LCX. Among 21 false positive cases in perfusion SPECT, 5 cases were interpreted as true negative with gated SPECT. We conclude that gated SPECT provides a valuable adjunct to perfusion SPECT in characterizing perfusion abnormalities and to improve specificity.

• Archives of Plastic Surgery
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• v.36 no.4
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• pp.512-515
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• 2009

Purpose: Neurofibromatosis(NF) is an autosomal - dominant systemic disease. Up to fifty percent of patients with NF are reported to have concomitant vascular abnormalities. In the resection of a larger NF, the risk of uncontrolled hemorrhage is much higher due to the difficulty of hemostasis of large vessels within the tumor. We ligated the base of the giant NF with a simple loop - shaped ligation before removal of the giant NF in both buttocks. And then we could successfully reduce the amount of hemorrhage during the operation. Methods: A 46 - year - old female patient presented for giant masses of both gluteal area, which has been growing slowly for the last ten years. Each mass was about $30{\times}20cm$ in size. After designing the elliptical resection margin, we tightened the tumor base by using continuous loop - shaped suture ligation(weaving the thread up and down in a loop - shaped pattern, leaving a space of 2 cm between each loop) with a straight needle and prolene 2 - 0. After skin incision, we proceeded the dissection toward the central and inferior side of the mass obliquely while we avoided breaking large vascular sinuses. We resected the tumor in a wedged - shape. Subcutaneous tissue was sutured layer by layer and skin was closed by vertical mattress and interrupted suture. The loop - shaped ligation of the base was removed and compressive dressing was done with gauzes and elastic bandages. Results: Postoperative complications such as infection, hemorrhage, hematoma, and dehiscense did not occur. Perioperatively the patient was sufficiently transfused with five units of blood and two units of fresh frozen plasma. During the subsequent 1 year follow - up, the functional and cosmetic result was excellent. Conclusion: A continuous loop - shaped suture ligation procedure along the base of the giant NF effectively reduced the amount of hemorrhage during the operation, made dissection and ligation of vessels easily and quickly, and shorten the operating time and postoperative recovery time.

• The Korea Journal of Herbology
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• v.27 no.6
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• pp.107-114
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• 2012

Objectives : In this study, we investigated the anti-diabetic and anti-inflammatory effects of water extract from leaves of Ligustrum japonicum (WLJ) in db/db mouse. Methods : The db/db mice were treated orally with WLJ (300 mg/kg/day) for 10 weeks to examine the long-term effects on hyperglycemia and glomerular tissue as well as biochemical and functional abnormalities in the kidney. Results : WLJ treatment markedly reduced plasma levels of glucose, triglyceride, creatinine, and systolic blood pressure in diabetic db/db mouse. Treatment of WLJ significantly increased plasma level of high density lipoprotein (HDL)-cholesterol. We also found that overexpressions of vascular cellular adhesion molecule (VCAM)-1 and endothelin (ET)-1 were observed in aortic tissue of db/db mouse, whereas, WLJ suppressed both expression of VCAM-1 and ET-1 in aorta. In renal tissue, overexpressions of ICAM-1 and TGF-${\beta}1$ were found in untreated db/db mouse, however, significantly decreased those levels by WLJ treatment. The insulin immunoreactivity of the pancreatic islets remarkably increased in WLJ treated db/db mouse compared with untreated db/db mouse. Taken together, WLJ treatment ameliorated hyperglycemia and hyperlipidemia via improvement of insulin secretion and lipid metabolism, respectively. Furthermore, WLJ treatment also ameliorated hypertension via inhibition of inflammatory process in vascular and renal tissues. Conclusions : Ligustrum japonicum has an anti-diabetic and anti-inflammatory effects in db/db mouse. Thus, these results suggested a beneficial effect of Ligustrum japonicum in treatment with diabetes and diabetic vasculopathy.