• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.92-95
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• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.213-221
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• 2005

Purpose: Hemophagocytic syndrome (HPS) is characterized by persistent high fever, hepatosplenomegaly, cytopenias, hypertriglyceridemia, and/or hypofibrinogenemia. Hepatic manifestations including overt hepatic failure and fulminant hepatitis are common in HPS. Liver transplantation (LT) should be considered in a case of fulminant hepatitis by other than HPS, but LT is contraindicated and complete cure is possible by chemotherapy in HPS. Therefore, we conducted this study to define the characteristics of HPS presenting as severe acute hepatitis. Methods: Among the total of 23 patients diagnosed as HPS by bone marrow examination between 1994 and 2005 in Asan Medical Center, 11 cases presented as severe acute hepatitis were enrolled in this study. We analyzed the clinical features, laboratory findings and outcome retrospectively. Results: Seven (64%) of the 11 children with HPS and hepatitis were referred to pediatric gastroenterologist at first. The mean age of onset was 50 months. There was no case with family history of primary HPS. Epstein-Barr virus was positive in 4, and herpes Simplex virus was positive simultaneously in 1 case. As the presenting symptoms and signs, fever was present in 10, hepatosplenomagaly was noted in all and jaundice in 10. Anemia was observed in 10, thrombocytopenia in 10, leukopenia in 8, hypertriglyceridemia in 9, hypofibrinogenemia in 8 and hyperferritinemia in 7 cases, respectively. Nine children received chemotherapy including etopside. The overall mortality rate was 72% (8/11). Conclusion: HPS, which needs chemotherapy, should be considered as a cause of severe acute hepatitis especially when accompanied with prolonged high fever and cytopenias.

• Journal of Food Hygiene and Safety
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• v.4 no.2
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• pp.133-153
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• 1989

The present study was carried out to investigate the preventive effects of lamprey oil and corn oil on atherosclerotic rats induced by oral administration of cholesterol and vitamin $D_2$. The obtaind results were summarized as fellows; 1. The group, fed only the mixture of cholesterol and vitamin $D_2$ showed the significant increase of total lipid, total cholesterol phospholipid, LDL&HDL-cholesterol in the serum, triglyceride and cholesterol in the heart and the aorta, but the significant decrease of triglyceride in the liver, as comparing with normal control group (p<0.05). The aorta showed the severe damage of disorganization, calcification, necrosis and lipid deposition in the aortic wall. 2. The group, adminstered the mixture of cholesterol and vitamin $D_2$ and fed 15% lamprey oil diet, showed the significant decrease of total lipid, triglyceride, total cholesterol, phospholipid and LDL&VLDL-cholesterol in the serum, triglyceride and cholesterol in the heart and the aorta, but the significant increase of cholesterol in the liver, as comparing with atherogenic control group (p<0.05). The aorta showed slight calcification and no lipid deposition in the aortic wall as comparing with atherogenic control group. 3. The group, administerd the mixture of cholesterol and vitamin $D_2$ and fed 15% corn oil diet, showed the decrease of total lipid, triglyceride and VLDL-cholesterol in the serum, and triglyceride in the heart and the aorta, as comparing with atherogenic control group (p<0.05). The aorta showed calcification and no lipid deposition in the aortic wall. In reviewing above results it was concluded that lamprey oil and corn oil in polyunsaturated fatty acids had the preventive effect on atherosclerotic rats induced by cholesterol and vitamin $D_2$. And the effect of lamprey oil in n-3 polyunsaturated fatty acids was higher than that of corn oil rich in n-6 polyunsturated fatty acids.

• Tuberculosis and Respiratory Diseases
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• v.66 no.2
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• pp.110-115
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• 2009

Background: A forceps-biopsy is performed to acquire tissue from patients with an endobronchial carcinoma using a flexible bronchoscope. Recently, a cryo-biopsy has also been used to acquire tissue samples. Cryo-biopsy is the diagnostic application of extreme cold for the local destruction of abnormal living tissue. This technique is safe, with no radiation danger, no risk of electrical accidents, and a little risk of bleeding. This study compared a forceps-biopsy with a cryo-biopsy using a flexible bronchoscope, and examined the chemosensitivity and level of VEGF (vascular endothelial growth factor) in the specimens obtained from the cryo-biopsy. Methods: We present a prospective study of 30 consecutive patients who underwent a forceps-biopsy between January 2007 and October 2007 with a mean age of 62.1 years and a male:female ratio of 5 : 1. A flexible bronchoscope was inserted to the area of the abnormal lesions, and a cryo-probe was then applied through the working channel of the flexible bronchoscope. A temperature of approximately -h80 was delivered to the tumor site for 8 seconds. The cryo-biopsy was performed after destroying the tumor mass. Results: The mean size of the tissue from the forceps-biopsy and cryo-biopsy were 2.0${\pm}$1.2 mm and 6.0${\pm}$3.0 mm. A chemosensitivity test was performed on 5 specimens obtained using cryo-biopsy and the level of VEGF was examined in 2 specimens obtained from a cryo-biopsy. There were no side effects in either group. Conclusion: Cryo-biopsy using a flexible bronchoscope is a safe and effective technique for acquiring tissue samples.

• The Korean Journal of Nuclear Medicine
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• v.36 no.3
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• pp.185-194
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• 2002

Purpose: We studied clinical aspects and courses of patients with pulmonary radioactivity on liver scintigraphy and speculated the mechanism of pulmonary uptake of radiocolloids. Materials and Methods: Forty-nine patients with pulmonary radioactivity were classified into 5 disease groups-liver disease, infection, cancer, ischemic necrosis of liver, etc.- and their presence or absence of chronic liver disease (CLD), Child-Pugh class, serum levels of AST and ALT, results of follow-up liver scintigraphy and clinical course were checked. Results: Of total 49 patients 25 had CLD; there were 23 liver disease patients, 16 infection patients, 7 advanced cancer patients, 2 ischemic necrosis of liver patients, and 1 hemolytic anemia patient. Reversible rise of serum levels of AST and ALT was observed in all patients with liver disease and ischemic necrosis of liver; on one-way ANOVA, these rise were statistically significant (p<0.01). Serum level of ALT of liver disease group patients without CLD was significantly higher than that of infection group patients without CLD (p<0.05). Among 17 patients who underwent follow-up liver scintigraphy, 13 showed no pulmonary radioactivity. Total 12 patients died during follow-up and most of them were terminal cancer patients or CLD patients of Child-Pugh class C. Conclusion: Pulmonary radioactivity of radiocolloid liver scintigraphy could be attributed to the mobilization of reticuloendothelial system (RES) cells by the activation of RES cells in severe infection and terminal cancer, and also by the extensive liver destruction in liver diseases.

• Journal of the Korean Society of Food Science and Nutrition
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• v.35 no.3
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• pp.344-352
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• 2006

The purpose of this study was to evaluate whether a daily regimen of green vegetable drink supplementation to male subjects improves the blood pressure and enhances other antioxidant enzyme status, lipid profiles and liver functionalities. Twenty nonsmokers and 19 smokers aged $23{\sim}60$ were given 240 mL of green vegetable drink every day for 8 weeks in addition to their normal diet, and blood samples were drawn before and after the intervention. The 8 weeks of green vegetable drink consumption resulted in a significant decrease of diastolic blood pressure in smokers (p<0.05) as well as in nonsmokers (p<0.01), and systolic blood pressure in smokers (p<0.05). Erythrocyte superoxide dismutase (SOD) activity was significantly increased in both nonsmokers and smokers after the trials. Plasma total cholesterol (TC) level was decreased in smokers and plasma TC and LDL-cholesterol (LDL-C) levels were decreased in nonsmokers while triglyceride (TG) and HDL-cholesterol (HDL-C) was not affected in both nonsmokers and smokers by green vegetable drink consumption. Plasma glutamic pyruvic transaminase (GPT), a marker of liver function was significantly reduced in both nonsmokers and smokers and plasma glutamic oxaloacetic transaminase (GOT) level was significantly reduced in nonsmokers after the supplementation. These results support the hypothesis that green vegetable drink exerts a blood pressure reducing effect and affects not only the activity of antioxidant enzymes, lipid profiles but also plasma GOT and/or GPT levels.

• 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.

• Journal of the Korean Society of Food Science and Nutrition
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• v.35 no.10
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• pp.1349-1355
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• 2006

This study was conducted to investigate the effect of methanol extract of Allomyrina dichotoma larva (MEAL) on carbon tetrachloride $(CCl_4)-induced$ hepatotoxicity in mice. ICR mice were divided into 5 groups [Vehicle control, $CCl_4\;(10{\mu}g/g)$ alone, $CCl_4$ plus a low dose $(50{\mu}g/g)$ of MEAL, $CCl_4$ plus a high dose $(100{\mu}g/g)$ of MEAL]. Silymarin $(2{\mu}g/g)$ was used as the reference in the experiment. Administration of MEAL tended to decrease the serum alanine transaminase (ALT) activity induced by $CCl_4$ treatment in mice. Hepatic concentration of thiobarbituric acid-reactive substances (TBARS) in a high-dose group of diet decreased to the level of silymarin-treated group. Hepatic activity of glutathione S-transferase in MEAL-treated group was lower than that of $CCl_4-treated$ group. Serum concentration of bilirubin was significantly increased by $CCl_4$ treatment, but MEAL or silymarin recovered the level. These results suggest that MEAL may exert the protective effect against $CCl_4-induced$ hepatotoxicity in mice. However, more intensive studies would be needed to elucidate the protective mechanism of the beetle on hepatotoxicity of mice.

• Tuberculosis and Respiratory Diseases
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• v.40 no.2
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• pp.147-152
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• 1993

Background: There is evidence that platelet is activated in chronic obstructive pulmonary disease and activated platelet with injured endothelium contribute to the pathogenesis of pulmonary hypertension, prognostic factor of chronic obstructive pulmonary disease. So, we have investigated platelet function further in chronic obstructive pulmonary disease and effect of platelet activation on pulmonary hypertension. Method: We studied platelet aggregation ratio and alpha-granule products such as platelet factor 4(PF4) and beta-thromboglobulin (${\beta}$-TG) in control subjects and COPD without and with pulmonary hypertension subjects. Result: 1) The platelet aggregation ratio (PAR) was $0.99{\pm}0.04$ in control subjects, $0.98{\pm}0.05$ in COPD without pulmonary hypertension subjects and $0.89{\pm}0.08$ in COPD with pulmonary hypertension subjects. The platelet aggregation ratio of COPD subjects was tend to decrease than that of control subjects and the ratio of COPD with pulmonary hypertension subjects was significantly lower than that of control subjects. 2) The platelet factor 4 (PF4, IU/ml) was $4.7{\pm}1.2$ in control subjects, $18.6{\pm}4.9$ in COPD without pulmonary hypertension subjects and $57.2{\pm}12.7$ in COPD with pulmonary hypertension subjects. The level of COPD subjects was significantly higher than that of control subjects and the level of COPD with pulmonary hypertension subjects was significantly higher than that of COPD without pulmonary hypertension subjects. 3) The beta-thromboglobulin (${\beta}$-TG, IU/ml) was $34.4{\pm}5.8$ in control subjects, $80.4{\pm}18.1$ in COPD without pulmonary hypertension subjects and $93.0{\pm}14.0$ in COPD with pulmonary hypertension subjects. The level of COPD subjects was significantly higher than that of conrtrol subjects and the level of COPD with pulmonary hypertension subjects was tend to increase than that of COPD without pulmonary hypertension subjects. 4) There was no correlation between the clinical parameters and PAR, PF4 and ${\beta}$-TG but there was significant correlation among PAR, PF4 and ${\beta}$-TG. Conclusion: The platelet is activated in chronic obstructive pulmonary disease and the platelet of COPD with pulmonary hypertension is tend to be activated more than that of COPD without pulmonary hypertension. So, activated platelet may involve in the pathogenesis and maintenance of pulmonary hypertension in COPD subjects and modulation of platelet activity that might reduce pulmonary hypertension needs to be determined.

• Korean Journal of Food Science and Technology
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• v.42 no.2
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• pp.210-216
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• 2010

Rosa rugosa has traditionally been used as a folk remedy for diabetes. The objective of this study was therefore to demonstrate the inhibition of endothelial dysfunction activities through antioxidants and the anti-glycation of Rosa rugosa roots. Dried roots of Rosa rugosa were boiled in methanol for three hours, evaporated and lyophilized with a freeze-dryer. The methanolic extract of Rosa rugosa roots (RRE) was tested for antioxidant activities by measuring total polyphenol (TP) content, flavonoid content, 1,1-diphenyl-2-picrylhydrazyl free radical-scavenging activity (DPPH) assay, and ferric-reducing antioxidant power (FRAP) assay. The total TP content, flavonoid content, FRAP value, and $DPPHSC_{50}$ are $345.2\;{\mu}g$ gallic acid equivalents/mg dry matter (DM), $128.1\;{\mu}g$ quercetin equivalents/mg DM, 2.2 mM $FeSO_4$/mg DM and $34.2\;{\mu}g$ DM/mL, respectively. Treatment of RRE significantly lowered fluorescent formation due to advanced glycation reaction. In addition, reactive oxygen species (ROS) scavenging assay, monocyte adherent assay and transendothelial electrical resistance (TEER) assay were performed to investigate the possibility that RRE improves endothelial dysfunction-induced diabetic complications. The adhesion of THP-1 to treated HUVEC with RRE ($100\;{\mu}g/mL$; 33% and $500\;{\mu}g/mL$; 75%) was significantly reduced compared to HUVEC stimulated by glyceraldehydes-AGEs (advanced glycation end product). The TEER value ($88\;{\Omega}{\cdot}cm^2$) of stimulated HUVEC by glyceraldehydes-AGEs was reduced compared to non-stimulation ($113\;{\Omega}{\cdot}cm^2$). However, normalization with RRE increased endothelial permeability in a dose-dependent manner ($100\;{\mu}g/mL$; $102\;{\Omega}{\cdot}cm^2$ and $500\;{\mu}g/mL$; $106\;{\Omega}{\cdot}cm^2$). Thus, these results suggest that Rosa rugosa roots could be a novel candidate for the prevention of diabetic complications through antioxidants and inhibition of advanced glycation end product formation.