• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Journal of the Korean Society of Radiology
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• v.16 no.6
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• pp.779-786
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• 2022

This study is designed to examine the effects of Dioscorea Quinqueloba extract as a natural radiation protection agent on the prostate and heart of male rats. Dioscorea Quinqueloba extract is well known to prevent the male-specific disease and heart disease. In this study, the Gamma-ray 10 Gy was irradiated in whole body of male rat to identify radioprotective effect by Dioscorea Quinqueloba extract. After irradiation, tissue change, SOD (Superoxide Dismutase) activity changes and hematological changes were observed. DQ+IR group showed higher lymphocyte, white blood cell, platelet levels than the IR group. In the NC and DQ groups, the number of prostate gland cells and the gap between cells were relatively narrow. But in the IR group, the cells died significantly and the gap widened. In the DQ+IR group, the gap between cells increased similarly to the IR group, but the number of dead cells was noticeably smaller. In the NC and DQ groups, the cardiovascular and myocardium are clearly separated, and cell nuclei are in good condition. But in the IR group, the cardiovascular and myocardium boundaries were disrupted, and the number of dead cell nuclei was high. In the DQ+IR group, although the boundaries were widened, but not disrupted and the number of dead cell nuclei was high. Therefore, Dioscorea Quinqueloba extract is judged to have radioprotective properties for the prostate and cardiovascular.

• Journal of Food Hygiene and Safety
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• v.27 no.3
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• pp.233-246
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• 2012

In this study, we investigated the applicability of the photostimulated luminescence(PSL), thermoluminescence(TL) and electron spin resonance(ESR) methods for various foods which are not allowed to be irradiated in Korea. All 15 foods including sesame, almond, peanut, cocoa powder etc. were analyzed. Samples were irradiated at 1~10 kGy using a $^{60}Co$ gamma-ray irradiator. In PSL study, the photon counts of all the unirradiated samples showed negative(lower than 700). The photon counts irradiated(1 kGy) dried shrimp, roasted peanut and seasoned peanut showed positive(higher than 5,000) and the other samples were negative or intermediate(> 700 and < 5,000). In TL analysis, results showed that it is possible to apply TL method to all foods containing minerals. In ESR measurements, the ESR signal(single-line) intensity of irradiated foods was higher than non-irradiated foods. In particular, the specific ESR signals of irradiation-induced crystalline sugar, cellulose and bone radical were detected in dried plum, raisin, dried cherry, mango(dried, frozen), rambutan, cocoa(powder), cinnamon, parsley, carrot, broccoli, dried arrow squid, dried pollack and dried shrimp. According to the results, PSL, TL and ESR methods were successfully applied to detect the irradiated foods because TL method is not able to detect the irradiated foods rarely composed of minerals. ESR is also a difficult method to detect the changes of ESR signal patterns of food. It is concluded that TL analysis or ESR assay is suitable for detection of irradiated samples and a combined method is recommendable for enhancing the reliability of detection results.