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A Case of Short-chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening

  • Park, Kyungwon;Ko, Jung Min;Jung, Goun;Lee, Hee Chul;Yoon, So Young;Ko, Sun Young;Lee, Yeon Kyung;Shin, Son Moon;Park, Sung Won
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.40-43
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    • 2015
  • Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive mitochondrial disorder of fatty acid oxidation associated with mutations in the ACADS gene. While patients diagnosed clinically have a variable clinical presentation, patients diagnosed by newborn screening are largely asymptomatic. We describe here the case of a 1-year-old male patient who was detected by newborn screening and diagnosed as SCAD deficiency. Spectrometric screening for inborn errors of metabolism at 72hrs after birth showed elevated butyrylcarnitine (C4) level of 1.69 mol/L (normal, <0.83 mol/L), C4/C2 ration of 0.26 (normal, <0.09), C5DC+C60H level of 39 mol/L (normal, <0.28 mol/L), and C5DC/C8 ration of 7.36 (normal, <4.45). The follow-up testing at 18 days of age were performed: liquid chromatography tandem mass spectrometry (LC-MS/MS), urine organic acids, and quantitative acylcarnitine profile. C4 carnitine was elevated as 0.91; urine organic acid analysis showed elevated ethylmalonic acid as 62.87 nmol/molCr (normal, <6.5), methylsuccinate 6.81 nmol/molCr (normal, not detected). Sequence analysis of ACADS revealed a homozygous missense mutation, c.164C>T (p.Pro55Leu). He is growing well and no episodes of seizures or growth retardation had occurred.

Effects of cultivated wild ginseng pharmacopuncture on lowering lipid and oxidative capacity in biochemical and molecular biological study in obese rats (산양산삼약침의 지질강하 및 항산화효과에 대한 생화학적 및 분자생물학적 검토)

  • Choi, Eun-Ju;Lee, Joon-Moo;Won, Seung-Hwan;Kwon, Ki-Rok
    • Journal of Pharmacopuncture
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    • v.9 no.1
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    • pp.5-20
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    • 2006
  • Objectives : This study was carried out to identified the effects of distilled cultivated wild ginseng pharmacopuncture to the obesity. Methods : Cultivated wild ginseng pharmacopuncture was administered on the points of chung-wan(CV12), $Ch'{\breve{o}}nch'u$(ST25), and Chok-samni(ST36) on lowering lipid and oxidative capacity in biochemical and molecular biological aspects were investigated in obese rats fed with high fat diet. Results : 1. The contents of plasma ${\beta}-lipoprotein$ showed a tendency to decrease in the pharmacopuncture groups compared to the control group. In the pharmacopuncture groups, the values of ST25 and ST36 pharmacopuncture groups showed lower value. 2. The contents of plasma free fatty acids showed a tendency to decrease in pharmacopuncture groups compared to the control group. However, in the pharmacopuncture groups, the values were not significantly different. 3. Plasma triglyceride and glucose showed lower value in the ST25 pharmacopuncture groups compared with the other groups. 4. The activity of AST showed a tendency to decrease in the pharmacopuncture groups. However, the activity of ALT was not significantly different in all the treatment groups. 5. Plasma total cholesterol and LDL-cholesterol showed lower value in the ST25 and ST36 pharmacopuncture groups and HDL-cholesterol showed higher value in the CV12 pharmacopuncture groups than that of the other treatment groups. 6. Liver total cholesterol values didn't show significant difference in all the treatment groups, and triglyceride showed lower value in the pharmacopuncture groups. 7. The contents of plasma TEARS showed lower value in the ST25 pharmacopuncture group and contents of liver TBARS showed a tendency to decrease in the pharmacopuncture groups. However these values didn't show significant difference in the pharmaco puncture groups. 8. Liver super oxide dismutase activity showed higher value in the ST25 and ST36 pharmacopuncture groups, and the value of liver glutathione peroxidase and catalase activity showed a tendency to increase in the pharmacopuncture groups. However, these values showed no significant difference in the pharmacopuncture groups. 9. Expression of apo-B and E mRNA in liver cells was lower in the ST25 pharmacopuncture group than that of the other treatment groups. However, expression of $TNF-{\alpha}$ and leptin mRNA in adipose cell showed no difference among all the treatment groups. 10. ST25 pharmacopuncture group showed a good histological character of liver. It showed similar to that of normal group. However other treatment groups and control group showed slight vasodilation and slight fat accumulation. Conclusion : These results indicate that distilled cultivated wild ginseng pharmacopuncture suppressed adipose tissue mass and lipid peroxidation, and increased antioxidant capacity.

Comparison of Gangji-hwan-1, 2, 3, 4 and Combination of Gangji-hwan-1 and Gamisoche-hwan in the Reducing Effects of Body Weight in a High Fat Diet-Fed Obese Mice (고지방식이 비만마우스 모델에서 파키스탄산 및 중국산 마황으로 조성된 강지환(降脂丸)-1, 2, 3, 4와 강지환(降脂丸)-1합가미소체환(合加味消滯丸)의 체중감량효과 비교)

  • Yoo, Jae Sang;Ku, Ja Ryong;Yoon, Ki Hyeon;Jo, Ju Heum;Jang, Du Hyon;Jung, Yang Sam;Kim, Jong Hoon;Kim, Byeong Chul;Seok, Hoa Jun;Yoon, Michung;Roh, Jong Seong;Shin, Soon Shik
    • Journal of Korean Medicine for Obesity Research
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    • v.15 no.1
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    • pp.9-23
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    • 2015
  • Objectives: This study was investigated the improvement effects of Pakistani Ephedra herba-containing Gangji-hwan-1, 2, 3 (Di-fatty; DF-1, 2, 3), Chinese Ephedra herba-containing Gangjihwan-4 (DF-4) and combination of DF-1 and Gamisoche-hwan (GSH) on obesity in a high fat diet-fed obese mouse model. Methods: Eight-week-old C57BL/6N mice were divided into seven groups: a normal lean group given a standard diet, an obese control group given a high fat diet, and DF-1, 2, 3, 4, and DF-1+GSH groups given a high fat diet with DF-1, 2, 3, 4 (40, 80, 160, 80 mg/kg), and DF-1+ GSH (80 mg/kg), respectively. After 8 weeks of treatment, body weight gain, feeding efficiency ratio (FER), blood lipid markers, liver histology, and fat weight and histology were examined. Results: Body weight gain was significantly decreased in DF and DF-1+GSH groups compared with control. The extent of decreases was eminent in DF-1+GSH group. FER and circulating concentration of leptin were decreased in DF and DF-1+GSH groups compared with control. Circulating concentrations of triglyceride, glucose and insulin were decreased in DF and DF-1+GSH groups compared with control. The size of adipocytes were decreased by DF and DF-1+GSH groups compared with control, whereas the adipocyte number per unit area was increased by them, suggesting that DF and DF-1+GSH groups decreased the number of large adipocytes. Conclusions: In conclusion, these results suggest that DF and DF-1+GSH groups decrease FER, plasma leptin concentration, blood anti-obesity biomarkers and fat mass, improves body weight gain. In addition, these effects were more effective in DF-1+GSH combination group than in DF-1, 2, 3, 4 groups.

A study on dietary habits, nutrient intakes and dietary quality in adults of a health screening and promotion center according to non-alcoholic fatty liver disease (건강증진센터 고객의 비알콜성 지방간 유무에 따른 식습관 및 영양섭취, 식사의 질에 관한 연구)

  • Chang, Ji Ho;Lee, Hye Seung;Kang, Eun Hee
    • Journal of Nutrition and Health
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    • v.47 no.5
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    • pp.330-341
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    • 2014
  • Purpose: The purpose of this study was to evaluate dietary habits, food intakes, nutrient intakes, and diet quality of non-alcoholic fatty liver disease in a health screening and promotion center. Methods: The total number of study subjects was 10,111 adults, where 3087 subjects (30.5%) were diagnosed as NAFLD. The dietary intakes were obtained using a food frequency questionnaire. They were then compared with the dietary reference intakes could be used in the future for development of diet and nutrition guidelines s (KDRIs). Results: Mean age of subjects in the normal group was $52.9{\pm}10.3yrs$ and body mass index (BMI) was $22.4{\pm}2.6kg/m^2$, and those of the NAFLD group were $55.1{\pm}9.2yrs$ and $25.4{\pm}2.9kg/m^2$. BMI, blood pressure of the NAFLD group were significantly higher than those of the normal group. The rates of skipping breakfast, overeating, and eating out were significantly could be used in the future for development of diet and nutrition guidelines er in the NAFLD group (p < 0.05, p < 0.000, p < 0.000 respectively). The speed of eating was fast in the NAFLD group (p < 0.000). The NAFLD group consumed significantly higher amounts of grains, meats, fish, seaweeds, kimchies, sugars, sweets, coffee, teas, and oils compared to the normal group (p < 0.05). Meanwhile, intakes of starch products, fruits, milk, and milk products were significantly lower in the NAFLD group compared with those of the normal group (p < 0.05). Riboflavin, calcium, and dietary fiber nutrient adequacy ratio (NAR) of the NAFLD group were significantly lower than those of the normal group. The Korean's dietary diversity score (KDDS) of the NAFLD group was lower than that of the normal group. Conclusion: In conclusion, we suggest that diet guidelines, such as increasing the intake of calcium and dietary fiber, reducing the intake of energy, fat, and simple carbohydrates, are necessary to improvement of NAFLD. The results could be used in the future for development of diet and nutrition guidelines for NAFLD.

Analysis of Pine Nut Oil Composition and Its Effects on Obesity (잣기름 성분분석 및 비만 예방효과 연구)

  • Kim, Kyoung Kon;Kang, Yun Hwan;Kim, Dae Jung;Kim, Tae Woo;Choe, Myeon
    • Korean Journal of Food Science and Technology
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    • v.46 no.5
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    • pp.630-635
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    • 2014
  • Pine nut oil (PNO) is well known to impart beneficial effects in overweight individuals, but the mechanisms underlying PNO-mediated weight loss remain unclear. To investigate how PNO promotes weight loss, its composition was determined by gas chromatography coupled with mass spectrometry (GC-MS). In addition, the effects of PNO on cytotoxicity, lipid accumulation, expression of lipid metabolism-related biomarkers, and leptin secretion were assessed in 3T3-L1 cells. GC-MS analyses revealed that PNO contains several components, including linoleic acid, oleic acid, palmitic acid, and stearic acid. Moreover, PNO did not have a cytotoxic effect on 3T3-L1 cells. However, it inhibited the expression of peroxisome proliferator-activated receptor (PPAR) and adipocyte protein 2 (aP2). Finally, PNO significantly increased leptin secretion in a dose-dependent manner. Taken together, these results support the notion that PNO is useful for weight management in overweight individuals.

Prebiotic Properties of Levan in Rats

  • Jang, Ki-Hyo;Kang, Soon-Ah;Cho, Yun-Hi;Kim, Yun-Young;Lee, Yun-Jung;Hong, Kyung-Hee;Seong, Kyung-Hwa;Kim, So-Hye;Kim, Chul-Ho;Rhee, Sang-Ki;Ha, Sang-Do;Choue, Ryo-Won
    • Journal of Microbiology and Biotechnology
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    • v.13 no.3
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    • pp.348-353
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    • 2003
  • Generally, two different types of fructose polymer are found in nature. One is inulin, whose fructosyl residues are linked mainly by a ${\beta}-(2,1)-linkage$, while the other is high-molecular-weight levan, whose fructosyl residues are linked mainly by a ${\beta}-(2,6)-linkage$. In contrast to the extensive studies on the prebiotic properties of inulin, there has been no report on the effect of levan on the large bowel microflora in viva. Therefore, to examine whether dietary levan can be used as a prebiotic, Sprague-Dawley male rats were fed one of two diets for 3 weeks: 1) basal diet plus sucrose; 2) basal diet plus 10% (wt/wt) levan. The cecal bowel mass, cecal and colon short-chain fatty acids (SCFAs), pH, and microflora were then compared. The intake of the levan-containing diet significantly increased the total cecal weight and wall weight. The analyses of the SCFAs in the cecal and colonic contents revealed that levan was converted into acetate, butyrate, and lactate, which resulted in acidic conditions. The intake of levan also significantly increased the total number of microorganisms by 5-fold and lactic acid-producing bacteria (LAB) 30-fold in the feces. Accordingly, the current work shows that levan can be used as a prebiotic for stimulating the growth of LAB in an animal model.

Rapid Gas Chromatographic Screening of Alcoholic Beverages for Volatile and Nonvolatile Organic Acids (기체크로마토그래피법에 의한 알코올 음료내 휘발성 및 비휘발성 유기산의 신속한 스크리닝)

  • Kim, Jung-Han;Kim, Kyoung-Rae;Chai, Jeong-Young;Park, Hyung-Kook;Choi, Kyoung-Sook
    • Korean Journal of Food Science and Technology
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    • v.26 no.2
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    • pp.162-166
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    • 1994
  • A rapid gas chromatographic (GC) profiling method for the simultaneous analysis of volatile and nonvolatile organic acids was applied to alcoholic beverages (white wine, red wine, brandy, and beer). It involves the solid-phase extraction of organic acids using Chromosorb P as the sorbent and diethyl ether as the eluent with subsequent triethylamine treatment. The resulting triethylammonium salts of acids were directly converted to volatile tert.-butyldimethylsilyl derivatives, which were analyzed by dual-capillary column GC and GC-mass spectrometry. From the alcoholic beverages studied, more than 29 organic acids were detected. When the simplified retention infer (RI) spectra of organic acids, and the direct comparisor method between alcoholic beverages and a test sample were attempted to identify a test sample, it was quickly recognized to be a red wine with the 998 ppt match quality value.

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Antioxidant Nutrient Intakes and Health Behaviors of Rheumatoid Arthritic Patients (류마티스 관절염 환자의 항산화 영양소 섭취상태와 생활습관)

  • Lee, Ju-Hee;Chung, Eun-Jung;Lee, Young-Ho;Ji, Jong-Dae;Ahn, Hong-Seok
    • Korean Journal of Community Nutrition
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    • v.13 no.2
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    • pp.253-262
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    • 2008
  • Previous studies have indicated that incidence of rheumatoid arthritis (RA) is partly related to the damage of antioxidant systems, but etiology of RA is not fully identified. This study was performed to evaluate nutrient intakes including antioxidants, health related behaviors and food habits of RA patients and controls. RA patient group (n = 68) and sex-matched healthy controls (n = 68) were joined in this study. Nutrient intake was estimated using a semiquantitative food frequency questionnaire. As mean age of RA ($52.9{\pm}13.8$ years) was significantly higher than those of controls ($48.7{\mp}5.9$ years), data were analyzed by using Student's t-test, adjusted for age. There was no significant difference between two groups in body mass index. Compared with those of controls, frequencies of drinking (p < 0.001) and coffee consumption (p < 0.05) of RA groups were lower. RA groups had lower frequencies of fruit (p < 0.01), vegetable (p < 0.05) and fatty meat (p < 0.05) consumptions and balanced diet (p < 0.01), and higher frequencies of fried dishes (p < 0.01), and salty dishes (p < 0.01), compared to controls. The most nutrient intakes including energy intake of RA were tended to be lower than those of controls. Vitamin A, ${\beta}$-carotene and vitamin C intakes were significantly lower in RA than controls (p < 0.001). Daily vitamin A, ${\beta}$-carotene and vitamin C intakes of RA were lower than those of control (vitamin A: RA $360.6{\pm}252.23{\mu}g$ RE, control $844.5{\pm}426.2{\mu}g$ RE, p < 0.001; ${\beta}$-carotene: RA $1450.9{\pm}1019.0{\mu}g$, control $3968.8{\pm}2248.21{\mu}g$, p < 0.001; vitamin C; RA $40.6{\pm}21.48mg$, control $84.7{\pm}40.29$, p < 0.001) These results suggest sufficient consumption of antioxidant nutrients may prevent and improve RA status.

Feasibility of Spin-Echo Echo-Planar Imaging MR Elastography in Livers of Children and Young Adults

  • Kim, Jin Kyem;Yoon, Haesung;Lee, Mi-Jung;Kim, Myung-Joon;Han, Kyunghwa;Koh, Hong;Kim, Seung;Han, Seok Joo;Shin, Hyun Joo
    • Investigative Magnetic Resonance Imaging
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    • v.23 no.3
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    • pp.251-258
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    • 2019
  • Purpose: To assess the feasibility of the use of spin-echo echo-planar imaging (SE-EPI) magnetic resonance elastography (MRE) in livers of children and young adults. Materials and Methods: Patients (${\leq}20$ years old) who underwent 3T SE-EPI MRE were included retrospectively. Subjects were divided into three groups according to the purpose of the liver MRI: suspicion of fatty liver or focal fat deposition in the liver (FAT group), liver fibrosis after receiving a Kasai operation from biliary atresia (BA group), and hepatic iron deposition after receiving chemotherapy or transfusions (IRON group). Technical failure of MRE was defined when a stiffness map showed no pixel value with a confidence index higher than 95%, and the patients were divided as success and failure groups accordingly. Clinical findings including age, gender, weight, height, and body mass index and magnetic resonance imaging results including proton density fat fraction (PDFF), $T2^*$, and MRE values were assessed. Factors affecting failure of MRE were evaluated and the image quality in wave propagation image and stiffness map was evaluated using the appropriate scores. Results: Among total 240 patients (median 15 years, 211 patients in the FAT, 21 patients in the BA, and 8 patients in the IRON groups), technical failure was noted in six patients in the IRON group (6/8 patients, 75%), while there were no failures noted in the FAT and BA groups. These six patients had $T2^*$ values ranging from 0.9 to 3.8 ms. The image quality scores were not significantly different between the FAT and BA groups (P > 0.999), while the scores were significantly lower in the IRON group (P < 0.001). Conclusion: The 3T SE-EPI MRE in children and young adults had a high technical success rate. The technical failure was occurred in children with decreased $T2^*$ value (${\leq}3.8ms$) from iron deposition.

Prevalence and Risk Factors of the Gallbladder Polyps Diagnosed by Ultrasound (복부초음파검사로 진단된 담낭용종의 유병률과 위험인자 분석)

  • LEE, Mi-Hwa;Cho, Pyong-Kon;Kwon, Duck-Moon
    • Journal of radiological science and technology
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    • v.38 no.2
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    • pp.127-134
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    • 2015
  • This study was designed to determine the prevalence of gallstones in the last three years and evaluate the associated risk factors in the population who underwent health screening. Although there are many studies reporting the prevalence and risk factors of GB polyp, the results varied among each report. The aims of this study were to evaluate the prevalence rate and risk factors of GB polyp, colon polyp and fatty liver in the population who underwent health screening. The study population consisted of 4,877 visited the health promotion center in Dalseogu, Daegu in Korea from January 2011 to December 2013. Each participant in the study had their biliary system gallbladder examined using ultrasonography. The prevalence of GB polyp was evaluated along with age, gender, metabolic syndrom, body mass index (BMI), Fatty liver, Colon polyp. A showed of total 383 (7.9%) people were found to have GB polyps. The prevalence of sex among 256 (9.8%) patients men and 127 (5.6%) women which showed significantly higher in male than in female subjects(p=0.001). The mean size of the GB polyps 4.92 mm (1.6-17 mm). The sizes of most GB polyps (73.6%) were less than 10 mm in diameter. 122 subjects (31.28%) had multiple GB polyps which 2 or more polyps and 261 subjects (68.2%) had single polyp. Independent risk factors related with GB polyp were male gender (OR 0.551, p<0.001), overweight that BMI above $23kg/m^2$ (OR 0.713, p=0.002) triglyceride (OR 0.571, P<0.001), metabolic syndrome (OR 0.049, p=0.033) and colon polyp (OR 1.409, p=0.002). In spite of the conclusion, the prevalence GB polyp was higher than previous Korea and other country reports. The GB polyp in a healthy population was results as 7.9%. The risk factors of GB polyps were found to be male, being overweight, triglyceride, metabolic syndrome and colon polyp. Not only the subject of a health examination is needed but, a further study of the general public when possible.