• Journal of Genetic Medicine
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• v.16 no.2
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• pp.85-89
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• 2019

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.60 no.3
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• pp.394-400
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• 2015

The roots of Platycodon grandiflorum species either dried or fresh, are used as an ingredient in salads and traditional cuisine in Korea. To interpret the root proteins, a systematical and targeting analysis were carried out from diploid and tetraploid roots. Two dimensional gels stained with CBB, a total of 39 differential expressed proteins were identified from the diploid root under in vivo condition using image analysis by Progenesis Same Spot software. Out of total differential expressed spots, 39 differential expressed protein spots (${\geq}\;1.5$-fold) were analyzed using LTQ-FTICR mass spectrometry. Except two proteins, the rest of the identified proteins were confirmed as down-regulated such as Isocitrate dehydrogenase, Proteasome subunit alpha type-2-B. However, the most of the identified proteins from the explants were mainly associated with the oxidoreductase activity, nucleic acid binding, transferase activity and catalytic activity. The exclusive protein profile may provide insight clues for better understanding the characteristics of proteins and metabolic activity in various explants of the economically important medicinal plant Platycodon grandiflorum.

• Toxicological Research
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• v.14 no.3
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• pp.293-300
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• 1998

Previous studies have shown that the heterocycles including thiazoles are efficacious in inducing phase phase II metabolizing enzyme as well as certain cytochrome P450s and that the inductin of these matabolizing enzymes by the heterocyclic agents is highly associated with their hepatotoxicity. In the present study, the effects of benzylisothiazole (BIT), which has a isothiazole moiety, on the expression of microsomal epoxide hydrolase (mEH), major glutathione S-transerases and cytochrome P450s were studied in the rat liver in association with its hepatotoxicity. Treatment of rats with BIT(1.17 mmol/kg, 1~3d) resulted in substantial increases in the mEH. rGSTA2, rGSTA2, rGSTM1 and rGSTM2 mRNA levels, whereas rGSTA3 and rGSTA5 mRNA levels were increased to much lesser extents. A time-course study showed that the mRNA levels of mEH and rGSTs were greater at 24hr after treatment than those after 3 days of consecutive treatment. Relative changes in mEH and rGST mRNA levels were consistent with those in the proteins, as assessed by Western immunoblot analysis. Hepatic cytochrom P450 levels were monitored after BIT treatment under the assumption that metabolic activation of BIT may affect expression of the enzymes in conjunction with hepatotoxicity. Immunoblot analysis revealed that cytochrome P450 2B1/2 were 3-to 4-fold induced in rats teatd with BIT(1.17 mmol/kg/day.3days), whereas P450 1A2, 2C11 and 3A1/2 levels were decreased to 20~30% of those in unteatd rats. P450 2E1 was only slightly decreased by BIT. Thus, the levels of several cytochrome P450s were suppressed by BIT treatment. Rats treated with BIT at the dose of 1.17mmol/kg for 3 days exhibited extensive multifocal nodular necrosis with moderate to extensive diffuse liver cell degeneration. No notable toxicity was observed in the kidney. These results showed that BIT induces mEH and rGSTs in the liver with increases in the mRNA levels, whereas the agent significantly decreased major cytochrome P450s. The changes in the detoxifying enzymes might be associated with the necrotic liver after consecutive treatment.

• Journal of Society of Preventive Korean Medicine
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• v.11 no.1
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• pp.65-84
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• 2007

In this study, the researcher tried to present the groundwork to prepare the oriental medical yangseng plan for the future obesity with the comparison between yangseng level and the obesity of workers. The researcher made up the questionnaire which asks the general character, health-related character and yangseng level, projected among 560 people. All collected material was analyzed by SPSS and tested by T-test and ANOVA. 1. The general yangseng level average is 3.27, morality yangseng 3.90, sleep yangseng 3.39, mind yangseng 3.31, sex life yangseng 3.30, exercise yangseng 3.15, activities and rest yangseng 3.08, diet yangseng 2.94, seasonal yangseng 2.84. The highest is morality yangseng and seasonal yangseng is the lowest. 2. In the aspect of yangseng level: Having a spouse, Non-smoking, Regular exercising, Sufficient sleeping have higher yangseng levels. 3. Obesity related index is changing into the higher level when he/she is older, more paid, more job experience, more education background but less metabolic calory. And drinking and regular exercising have relativity with body composition analysis. 4. After comparing yangseng level with body composition analysis, we can easily find that the more visceral fat, the higher WHR has a high yangseng level. The more mineral also has a high mind yangseng and a low diet yangseng. The visceral fat level has a high yangseng level when higher morality yangseng and mind yangseng are getting higher and higher. And sex life yangseng shows that the highest yangseng level is from 9-10 visceral fat and the lowest yangseng level is from below 4 visceral fat. The higher WHR, the higher morality, mind and sleep yangseng. The heavier, the lower diet yangseng. The mind yangseng was very high when body fat rate was higher. The more body fat, the higher morality yangseng. The higher yangseng, when we have more muscle. Yangseng level and obesity of laborer has a close relationship with individual character and daily habits. Also, relevance can be easily found between yangseng level and obesity. Now the researcher came into the conclusion that we need to control over laborers' health and prevention of their obesity.

• Biomolecules & Therapeutics
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• v.23 no.2
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• pp.189-194
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• 2015

P450 1A2 is responsible for the metabolism of clinically important drugs and the metabolic activation of environmental chemicals. Genetic variations of P450 1A2 can influence its ability to perform these functions, and thus, this study aimed to characterize the functional significance of three P450 1A2 allelic variants containing nonsynonymous single nucleotide polymorphisms (P450 $1A2^*8$, R456H; $^*15$, P42R; $^*16$, R377Q). Variants containing these SNPs were constructed and the recombinant enzymes were expressed and purified in Escherichia coli. Only the P42R variant displayed the typical CO-binding spectrum indicating a P450 holoenzyme with an expression level of ~ 170 nmol per liter culture, but no P450 spectra were observed for the two other variants. Western blot analysis revealed that the level of expression for the P42R variant was lower than that of the wild type, however the expression of variants R456H and R377Q was not detected. Enzyme kinetic analyses indicated that the P42R mutation in P450 1A2 resulted in significant changes in catalytic activities. The P42R variant displayed an increased catalytic turnover numbers ($k_{cat}$) in both of methoxyresorufin O-demethylation and phenacetin O-deethylation. In the case of phenacetin O-deethylation analysis, the overall catalytic efficiency ($k_{cat}/K_m$) increased up to 2.5 fold with a slight increase of its $K_m$ value. This study indicated that the substitution P42R in the N-terminal proline-rich region of P450 contributed to the improvement of catalytic activity albeit the reduction of P450 structural stability or the decrease of substrate affinity. Characterization of these polymorphisms should be carefully examined in terms of the metabolism of many clinical drugs and environmental chemicals.

• Journal of Veterinary Clinics
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• v.27 no.6
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• pp.693-697
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• 2010

This study, conducted with four leopard cats (Prionailurus bengalensis), used time-resolved fluoroimmunoassay (TR-FIA) to analyze estradiol and progesterone concentrations in fecal samples. We measured fecal samples taken during estrus period, diestrus period, pregnancy and non-pregnancy period. During estrus (February), the mean minimum estradiol concentration was $4.02{\pm}1.9$ng/g, and the mean maximum was $86.01{\pm}35.2$ng/g (dry fecal weight). During diestrus (November), the mean minimum estradiol concentration was $4.42{\pm}1.32$ng/g and mean maximum was $15.62{\pm}6.48$ng/g (dry fecal weight). Midgestation (April), the mean minimum progesterone concentration was $427{\pm}24.49$ng/g and the mean maximum was $1490{\pm}265.27$ng/g. During non-pregnancy (November), the mean minimum progesterone concentration was $71.25{\pm}29.61$ng/g and the mean maximum was $291.75{\pm}90.30$ng/g. These results suggest that steroid hormone analysis of feces using TR-FIA is a valid method for noninvasively determining ovarian activity associated with estrus and pregnancy in leopard cats. This study will contribute to building breeding management and reproductive plans for endangered species.

• Biomedical Science Letters
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• v.8 no.3
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• pp.127-135
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• 2002

Anterior subcapsular cataract was developed by opacification with transdifferentiation and abnormal proliferation of lens epithelial cells (LECs) and pathological accumulation of extracellular matrix (ECM). After-cataract also be caused by a similar transdifferentiation of LECs remaining after surgery and the accompanying increase of ECM deposits. It is blown that prostaglandin E2 and cytokine, such as TGF-$\beta$, bFGF, and IL-1, were associated with abnormal proliferation and transdifferentiation of LECs. The aim of this study was to detect the expression of transforming growth factor-$\alpha$ (TGF-$\alpha$), transforming growth factor-$\beta_1$(TGF-$\beta_1$) and basic fibroblast growth factor (bFGF) in LECs of senile and diabetic cataract. The expressions of these growth factors in lens epithelial cells were determined. The sample for growth factor determination were collected in senile cataract patients without metabolic disorder, especially diabetes mellitus and diabetic cataract patients. The mRNA expression of growth factors was detected by semi-quantitative reverse transcription - polymerase chain reaction (RT-PCR) followed by Southern blot analysis. Statistics were analysed using Wilcoxon rank sum test. Semi-quantitative RT-PCR/southern analysis of RNA obtained from thirty surgical specimens demonstrated that the level of mRNA expression of TGF-$\alpha$, -$\beta_1$ and bFGF was increased in diabetic cataract lens tissues compared with senile cataract specimens but non-significant, bFGF and TGF-$\beta_1$ mRNA expression were detected in most patients, expression level of TGF-$\beta_1$ was most high on the basis of normal ocular concentration. Detection rate of TGF-$\alpha$ in diabetic cataract was 1.5 fold higher than in senile cataract (P=0.098). TGF-$\alpha$, TGF-$\beta_1$, and bFGF mRNA expression of LECs were detected in senile and diabetic cataract. In both patient groups, expression level of TGF-$\beta_1$, mRNA was high, so We suggest TGF-$\beta_1$ strong influence in development of senile cataract and of diabetic cataract also. TGF-$\alpha$ expression level was similar but more frequently detected in diabetic cataract than in senile cataract. In conclusion, TGF-$\alpha$ may be associated with early development of diabetic cataract.

• Transactions of the Korean Society of Mechanical Engineers A
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• v.38 no.10
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• pp.1147-1155
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• 2014

Biomechanical models are often used to predict muscle and joint forces in the human body. For estimation of muscle forces, the body and muscle properties have to be known. However, these properties are difficult to measure and differ from person to person. Therefore, it is necessary to predict the change in muscle forces depending on the body and muscle properties. The objective of the present study is to develop a numerical procedure for estimating the muscle forces in the human lower extremity under uncertainty of body and muscle properties during rising motion from a seated position. The human lower extremity is idealized as a multibody system in which eight Hill-type muscle force models are employed. Each model has four degrees of freedom and is constrained in the sagittal plane. The eight muscle forces are determined by minimizing the metabolic energy consumption during the rising motion. Uncertainty analysis is performed using a first-order reliability method. The one-standard-deviation range of agonistic muscle forces is calculated to be about 150-300 N.

• Childhood Kidney Diseases
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• v.10 no.2
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• pp.219-227
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• 2006

Purpose : We aim to identify the clinical and demographic characteristics in children who underwent renal transplantation(RTx) and to evaluate the influence on growth of RTx in children. Methods : We reviewed 17 medical records of chronic renal failure patients who underwent RTx from April 1992 and June 2004 at Busan Paik Hospital. Age and sex distribution, cause of disease, donor analysis, patient and graft survival rate, and the status of growth after RTx were analysed by retrospective study. Results : Eighteen RTx were performed in 17 patients(8 boys, 9 girls). The mean age at the time of RTx was $15.8{\pm}3.5$ years and the mean duration of dialysis therapy before RTx was $22.4{\pm}18.0$ months. The 1 year and 5 year patient survival rate were each 100%, and the 1 year and 5 year graft survival rate were 88%, 36% respectively. The most common cause of graft failure was chronic rejection. The mean final height of male patients was $162.8{\pm}10.0$ cm(143.0-172.5 cm) and of female patients was $154.5{\pm}12.1$ cm(135.8-160.0 cm). The mean height standard deviation score(Ht SDS) increased after RTx from -1.95 to -1.53 but the increment rate was not statistically significant. Similar changes were noted in individual patient analysis. Also there was no significant difference between the living-related donors and cadaveric donors. Conclusion : Our data shows that even successful RTx rarely results in full growth rehabilitation. To overcome retarded growth in children with chronic renal failure, appropriate combined management of metabolic and nutritional problems, correction of anemia, proper use of recombinant growth hormone therapy, early renal transplantation and shortening of the duration of dialysis would be necessary.

• Journal of Yeungnam Medical Science
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• v.13 no.2
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• pp.261-271
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• 1996

Introduction: Osteoporosis, the most common metabolic bone disorder, is a condition of reduced bone density and increased susceptibility to fractures. Osteoporosis is a major public health problem and a significant cause of morbidity in postmenopausal women. Therefore family physicians as primary care physicians are in a key position for preventing and treating this disorder. So we studied the factors affecting to bone mineral density in postmenopausal women. Materials and Methods: A total of 136 spontaneous postmenopausal women were participated in the study. They have measured spinal bone mineral density by dual energy x-ray absorptiometry from January 1992 to June 1995 at Yeungnam University Hospital. Age, height, weight, age at menarche and menopause, number of child and breast feeding child, history of oral pill ingestion, family history of osteoporosis, amount of milk and coffee ingestion, consumption of tobacco and alcohol and physical activity were assessed by qustionnaire and medical records. Results: The mean age is 55.2 and mean age at menopause is 47.9. Height, weight and physical activity were significantly positive correlated to bone mineral density. But age, duration after menopause and number of child were significantly negative correlated. Also age, height, weight, physical activity and duration after menopause were significantly correlated to % age-matched bone mineral density. In multiple regression analysis, which dependent variable is bone mineral density, duration after menopause, physical activity and weight were significant contributors. Duration after menopause is most the largest contributor. In multiple regression analysis, which dependent variable is % age-matched bone mineral density to adjust the age effect, physical activity and weight were significant contributors. Physical activity is most the largest contributor. Conclusions: Among factors affecting to BMD in postmenopausal women, physical activity and weight were more important factors. Therefore continuous physical activity is significant factor to prevent osteoporosis in postmenopausal women.