• 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.

• The Journal of Korean Academy of Prosthodontics
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• v.50 no.1
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• pp.53-60
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• 2012

Purpose: The purpose of this study was to compare Ni-Cr alloy property of gas-oxygen torch soldering and infrared welding using optical microscope and Electron Probe Micro Analyzer (EPMA). Materials and methods: Ni-Cr alloys were casted for specimens. Specimens had 3.0 mm diameter, 30.0 mm length and were divided into two groups. Each group had 4 specimens. One group was for gas-oxygen torch soldering and the other was infrared welding. Specimens were cut with low-speed disc and soldered each other with gas-oxygen torch and infrared machine. After soldering and polishing, specimens were observed at 3 points (soldering point, 5 mm distance point, 10 mm distance point) with optical microscope and analyzed 3 points (soldering point, 5 mm distance point, 10 mm distance point with EPMA. Results: The results of this study were as follows: 1. The observation of gas-oxygen torch soldering at 10 mm distance point under the optical microscope was not founded any specific surface properties, but some crack lines were observed at 5 mm distance and soldering point. 2. There were no crack lines were founded at the observation of infrared welding at 10 mm distance and 5 mm distance points under the optical microscope. However, at the 5 mm distance, the surface was not smooth enough compared with at 10 mm distance point. Some crack lines were observed at the welding point as well. 3. In the EPMA analysis of the gas-oxygen torch soldering, the component of Ni was increased by 4.5%, Cr was increased by 7.5% than that of the Ni-Cr alloy at the 10.0 mm distance. At the 5 mm distance, the component of Ni was decreased by 6.1%, Mo was increased by 9.0% than that of the Ni-Cr alloy but Cr was equally shown at the 5.0 mm distance. Only Ni was shown at the soldering point. 4. In the EPMA analysis of the infrared welding, the component of Ni was increased by 9.1%, Cr was increased by 0.4% than that of the Ni-Cr alloy but Al was equal at the 10.0 mm distance. At the 5 mm distance, the component of Ni was increased by 4.7%, Cr was increased by 4.7% and Al was increased by 0.1% than that of the Ni-Cr alloy. At the welding point, the component of Ni was increased by 8.8%, Cr was increased by 8.2% than that of the Ni-Cr alloy. Conclusion: From these results, at the 5 mm distance from the soldering point, the surface of the infrared welding was more smoother than that of the gas-oxygen torch soldering. On the EPMA analysis, the component of the specimens with infrared welding was more similar than that of the gas-oxygen torch soldering compared with the component of the Ni-Cr alloy.

• Journal of Chest Surgery
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• v.34 no.11
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• pp.831-842
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• 2001

Background: Patients with cardiac diseases who have structural defects in their heart bring about metabolic insult such as preoperative acid-base imbalance. Cardiac operation requires many nonphysiologic procedures such as extracorporeal circulation, hypothermia, and hemodilution. We studied the acid-base status of surgical heart diseases pre-operatively, during extracorporeal circulation, and post-operatively and researched the treatment indications of acid-base disturbances. Material and Method: From January 1997 to May 1999, fifty two cases of open heart surgery were carried out under extracorporeal circulation, which divided into a set of pediatric and adult groups, congenital and acquired groups, non-cyanotic and cyanotic groups, The $\alpha$ -stat arterial blood gas analysis was done in each group during the preoperative period, during the operation with extracorporeal circulation, and during the postoperative period. Result: Before surgery, all patients present metabolic acidosis, PaO2 was low in adult group and acquired group and compensatory respiratory alkalosis was noted in cyanotic group. During extracorporeal circulation, adult group revealed alkalosis and normal in acquired group. Pediatric group presents low Pa$CO_2$, metabolic acidosis and respiratory alkalosis. Congenital group and non-cyanotic group showed non-compensatory alkalosis trend and non-compensatory respiratory acidosis were observed in cyanotic group during extracorporeal circulation. Postoperative acid-base status of adult group was recovered to normal and the standard bicarbonate was increased in the acquired group. All of the pediatric, congenital non-cyanotic, and cyanotic groups revealed the lack of buffer base.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1126-1133
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• 2002

Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1205-1210
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• 2008

Purpose : The development of the corpus callosum occupies the entire period of cerebral formation. The myelination pattern on magnetic resonance imaging (MRI) is very useful to evaluate neurologic development and to predict neurologic outcome in high risk infants. The thickness of the corpus callosum is believed to depend on the myelination process. It is possible to calculate the length and thickness of the corpus callosum on MRI. Thus, we can quantitatively evaluate the development of the corpus callosum. We investigated the clinical significance of measuring various portions of the corpus callosum in neonate with neurologic disorders such as hypoxic brain damage and seizure disorder. Methods : Forty-two neonates were evaluated by brain MRI. We measured the size of the genu, body, transitional zone, splenium, and length of the corpus callosum. Each measurement was divided by the total length of the corpus callosum to obtain its corrected size. The ratio of corpus callosal length and the anteroposterior diameter of the brain was also measured. Results : There was no statistical significance in the sample size of each part of the corpus callosum. However, the corrected size or the ratio of body of the corpus callosum correlated with periventricular leukomalacia and hypoxic ischemic encephalopathy. Conclusion : The abnormal size of the corpus callosum showed a good correlation with periventricular leukomalacia and hypoxic ischemic encephalopathy in neonates. We can predict clinical neurological problems by estimation of the corpus callosum in the neonatal period.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.197-204
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• 2018

Purpose: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (${\geq}6$ months of age) seizures. Results: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. Conclusion: There is no significant difference in epilepsy-related variables when patients are divided based on a cut-off age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the late-onset group.

• Journal of Intelligence and Information Systems
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• v.27 no.2
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• pp.33-54
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• 2021

With the fourth industrial revolution and the arrival of the New Normal era due to Corona, the importance of Non-contact technologies such as artificial intelligence and big data research has been increasing. Convergent research is being conducted in earnest to keep up with these research trends, but not many studies have been conducted in the area of nuclear research using artificial intelligence and big data-related technologies such as natural language processing and text mining analysis. This study was conducted to confirm the applicability of data science analysis techniques to the field of nuclear research. Furthermore, the study of identifying trends in nuclear spent fuel recognition is critical in terms of being able to determine directions to nuclear industry policies and respond in advance to changes in industrial policies. For those reasons, this study conducted a media trend analysis of pyroprocessing, a spent nuclear fuel treatment technology. We objectively analyze changes in media perception of spent nuclear fuel dry treatment techniques by applying text mining analysis techniques. Text data specializing in Naver's web news articles, including the keywords "Pyroprocessing" and "Sodium Cooled Reactor," were collected through Python code to identify changes in perception over time. The analysis period was set from 2007 to 2020, when the first article was published, and detailed and multi-layered analysis of text data was carried out through analysis methods such as word cloud writing based on frequency analysis, TF-IDF and degree centrality calculation. Analysis of the frequency of the keyword showed that there was a change in media perception of spent nuclear fuel dry treatment technology in the mid-2010s, which was influenced by the Gyeongju earthquake in 2016 and the implementation of the new government's energy conversion policy in 2017. Therefore, trend analysis was conducted based on the corresponding time period, and word frequency analysis, TF-IDF, degree centrality values, and semantic network graphs were derived. Studies show that before the 2010s, media perception of spent nuclear fuel dry treatment technology was diplomatic and positive. However, over time, the frequency of keywords such as "safety", "reexamination", "disposal", and "disassembly" has increased, indicating that the sustainability of spent nuclear fuel dry treatment technology is being seriously considered. It was confirmed that social awareness also changed as spent nuclear fuel dry treatment technology, which was recognized as a political and diplomatic technology, became ambiguous due to changes in domestic policy. This means that domestic policy changes such as nuclear power policy have a greater impact on media perceptions than issues of "spent nuclear fuel processing technology" itself. This seems to be because nuclear policy is a socially more discussed and public-friendly topic than spent nuclear fuel. Therefore, in order to improve social awareness of spent nuclear fuel processing technology, it would be necessary to provide sufficient information about this, and linking it to nuclear policy issues would also be a good idea. In addition, the study highlighted the importance of social science research in nuclear power. It is necessary to apply the social sciences sector widely to the nuclear engineering sector, and considering national policy changes, we could confirm that the nuclear industry would be sustainable. However, this study has limitations that it has applied big data analysis methods only to detailed research areas such as "Pyroprocessing," a spent nuclear fuel dry processing technology. Furthermore, there was no clear basis for the cause of the change in social perception, and only news articles were analyzed to determine social perception. Considering future comments, it is expected that more reliable results will be produced and efficiently used in the field of nuclear policy research if a media trend analysis study on nuclear power is conducted. Recently, the development of uncontact-related technologies such as artificial intelligence and big data research is accelerating in the wake of the recent arrival of the New Normal era caused by corona. Convergence research is being conducted in earnest in various research fields to follow these research trends, but not many studies have been conducted in the nuclear field with artificial intelligence and big data-related technologies such as natural language processing and text mining analysis. The academic significance of this study is that it was possible to confirm the applicability of data science analysis technology in the field of nuclear research. Furthermore, due to the impact of current government energy policies such as nuclear power plant reductions, re-evaluation of spent fuel treatment technology research is undertaken, and key keyword analysis in the field can contribute to future research orientation. It is important to consider the views of others outside, not just the safety technology and engineering integrity of nuclear power, and further reconsider whether it is appropriate to discuss nuclear engineering technology internally. In addition, if multidisciplinary research on nuclear power is carried out, reasonable alternatives can be prepared to maintain the nuclear industry.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.380-386
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• 2005

Purpose : The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. Recently, UGT1A1 mutation was found to be a risk factor for neonatal hyperbilirubinemia. In congenitally-jaundiced Gunn rats, which lack expression of UDP-glucuronosyltransferase, alternative pathways can be stimulated by inducers of CYP1A1 and CYP1A2 enzymes. CYP1A2 plays a major role in bilirubin degradation of the alternate pathway. We studied the relationship between UGT1A1 and CYP1A2 gene polymorphism of neonatal hyperbilirubinemia in Koreans. Methods : Seventy-nine Korean full term neonates who had hyperbilirubinemia(serum bilirubin >12 mg/dL) without obvious causes of jaundice, were analyzed for UGT1A1 and CYP1A2 gene polymorphism; the control group was sixty-eight. We detected the polymorphism of Gly71Arg of UGT1A1 gene by direct sequencing and T2698G of CYP1A2 by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) using MboII and direct sequencing. Results : Allele frequency of Gly71Arg mutation in the hyperbilirubinemia group was 32 percent, which was significantly higher than 11 percent in the control group(P<0.0001). Mutant gene frequency of T2698G was 41.8 percent in patients and 32.3 percent in the control group(P=0.015), but allele frequency was 21 percent in patients and 19 percent in the control group, which was not significantly higher(P=0.706). There was no relationship between mutations of two genes(P=0.635). Conclusion : The polymorphism of UGT1A1 gene(Gly71Arg) and CYP1A2 gene(T2698G) was detected in Korean neonatal hyperbilirubinemia. Only polymorphisms of Gly71Arg in UGT1A1 were significantly higher than control group.

• Korean Journal of Materials Research
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• v.5 no.1
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• pp.42-54
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• 1995

$Ta_2O_5$ thin film IS a promising material for the high dielectrics of ULSI DRAM. In this study, $Ta_2O_5$ thin film was grown on p-type( 100) Si wafer by thermal metal organic chemical vapo deposition ( MCCVD) method and the effect of operating varialbles including substrate temperature( $T_s$), bubbler temperature( $T_ \sigma$), reactor pressure( P ) was investigated in detail. $Ta_2O_5$ thin film were analyzed by SEM, XRD, XPS, FT-IR, AES, TEM and AFM. In addition, the effect of various anneal methods was examined and compared. Anneal methods were furnace annealing( FA) and rapid thermal annealing( RTA) in $N_{2}$ or $O_{2}$ ambients. Growth rate was evidently classified into two different regimes. : (1) surface reaction rate-limited reglme in the range of $T_s$=300 ~ $400 ^{\circ}C$ and (2: mass transport-limited regime in the range of $T_s$=400 ~ $450^{\circ}C$.It was found that the effective activation energies were 18.46kcal/mol and 1.9kcal/mol, respectively. As the bubbler temperature increases, the growth rate became maximum at $T_ \sigma$=$140^{\circ}C$. With increasing pressure, the growth rate became maximum at P=3torr but the refractive index which is close to the bulk value of 2.1 was obtained in the range of 0.1 ~ 1 torr. Good step coverage of 85. 71% was obtained at $T_s$=$400 ^{\circ}C$ and sticking coefficient was 0.06 by comparison with Monte Carlo simulation result. From the results of AES, FT-IR and E M , the degree of SiO, formation at the interface between Si and TazO, was larger in the order of FA-$O_{2}$ > RTA-$O_{2}$, FA-$N_{2}$ > RTA-$N_{2}$. However, the $N_{2}$ ambient annealing resulted in more severe Weficiency in the $Ta_2O_5$ thin film than the TEX>$O_{2}$ ambient.

• Korean Journal of Food Science and Technology
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• v.47 no.3
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• pp.380-387
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• 2015

The anti-amnesic effect of Artemisia argyi H against trimethyltin (TMT)-induced learning and memory impairment and its neuroprotective effect against $H_2O_2$-inducedoxidative stress were investigated. Cognitive behavior was examined by Y-maze and passive avoidance test for 4 weeks, which showed improved cognitive functions in mice treated with the extract. In vitro neuroprotective effects against $H_2O_2$-induced oxidative stress were examined using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-tetrazolium-bromide and lactate dehydrogenase (LDH) assays. A. argyi H. extract showed protective effects against $H_2O_2$-induced neurotoxicity; moreover, LDH release into the medium was inhibited. Finally, high-performance liquid chromatography (HPLC) analysis showed that eupatilin and jaceosidin were the major phenolic compounds in A. argyi H. extract. These results suggest that A. argyi H. could be a good source of functional substances to prevent neurodegenerative diseases.