• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Korean Journal of Poultry Science
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• v.41 no.4
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• pp.287-296
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• 2014

Chicken eggs undergo various physiological changes during egg maturation. To study genes associated with the egg maturation in pre-ovulation (immature) and post-ovulation (mature), we compared gene expression patterns between in the immature egg and mature egg using RNA sequencing data. Mature and immature eggs were obtained from a Heuksaek Jaerae-jong of Korean native chicken. Total RNAs obtained from the eggs were sequenced by Illumina HiSeq 2000 platform, and the generated sequence reads were mapped to Galgal4 reference sequence assembly using Tuxedo Protocol. From the comparison of the RNA sequencing data, 315 genes were differentially expressed between mature and immature eggs, and 46 genes were only detected in immature egg. Further gene ontology (GO) analysis was performed for the differentially expressed genes using DAVID, showing that 29 and 28 GO terms were independently clustered from mature and immature, respectively. From those clustered GO terms, genes related to germ cell development, sex differentiation and defense response to bacterium were mainly expressed in the immature egg, while genes related to regulation of apoptosis, steroid metabolic process and lipid homeostasis were mainly detected in the mature egg. Our results could contribute to understand egg maturation before and after ovulation, and develop genetic markers for improving egg quality and productivity.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.2
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• pp.116-121
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• 2008

Purpose: Cricopharyngeal incoordination is a rare cause of swallowing difficulties in newborns and infants; it is characterized by delayed pharyngeal contractions related to cricopharyngeal relaxation. Dysphagia and repeated aspiration are common findings despite normal sucking. We conducted this study to assess the clinical features of cricopharyngeal incoordination in newborns and infants. Methods: An analysis of the clinical data from 17 patients with cricopharyngeal incoordination who were admitted to the Department of Pediatrics, Pusan National University Hospital, between 2000 and 2006 was conducted retrospectively. The diagnosis of cricopharyngeal incoordination was established by the clinical characteristics and the videofluoroscopic swallowing studies. Results: The male to female ratio was 1:1.1 (males 8, females 9) the age range 1 to 60 days. The body weight of 11 patients (64.7%) was less than the $10^{th}$ percentile at diagnosis. Six patients (35.3%) were born prematurely. The associated anomalies or diseases were chromosomal anomaly (2 cases), congenital heart disease (3 cases), and laryngomalacia, hypoxic brain damage or neonatal seizures (1 case each). The chief complaints of patients were recurrent aspiration pneumonia (10 cases), feeding difficulty (9 cases), dyspnea (4 cases), and chocking (4 cases). The severity of aspiration on the videoesophagogram or esophagogram was mild in 12 cases. The correlation between the severity of aspiration and the duration of tube feeding after the diagnosis was significant (p<0.05). Conclusion: Cricopharyngeal incoordination should be considered in the differential diagnosis of newborns and infants, without known risk factors associated with swallowing dysfunction, when they present with unexplained respiratory problems. Although the prognosis of cricopharyngeal incoordination is good, early diagnosis and tube feeding are recommended to prevent the complications associated with this disorder.

• Korean Journal of Soil Science and Fertilizer
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• v.6 no.3
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• pp.141-152
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• 1973

The mineralogical studies of the eleven sub-soil samples derived from granite, granodiorite, diorite and arkose sandstone, taken from apple orchards in the province of Kyungsangbukdo, Korea are made to investigate the relationships between the mineral weathering, soil forming processes and mineralogical composition. The fine sand fraction (less than 0.2mm) and the clay fraction (less than 2 micron) are dispersed with the shaker after hydrogen peroxide treatment for the removal of organic matter, and separated from each suspension by gravity sedimentation. The fine sand are observed by mineral microscope and the clay are observed by X-ray diffraction patterns, differential thermal analysis curves and infrared spectrum. The outline of the results are as follows. 1. The primary minerals ; Quartz, changed-feldspar, plagioclase, alkali-feldspar are dominant in almost all samples, and some samples contain an appreciable amount of hornblende, biotite, muscovite and plant opal. There are also those samples which contain very small quantity of pyroxene group, tourmaline, epidote, cyanite, magnetite, volcanic glass and zircon. They are mainly derived from weathering products of granite, granodiorite, diorite, arkose or its mixtures. 2. All samples contain expanding or nonexpanding $14{\AA}$ minerals, illite and kaolin minerals, and some samples contain chlorite, cristobalite, gibbsite, and those primary minerals as quartz and feldspar, but the quantities vary according to the parent matrials. 3. Non-expanding $14{\AA}$ minerals may be dioctahadral vermiculite which sandwiches gibbsite layer or chlorite in between layer lattices. 4. As for clay minerals, montmorillonite was principal component in the samples derived from weathering products of arkose sandstone and tertiary. Minerals which are derived from weathering products of arkose have kaolin minerals and vermiculite as their principal component, and minerals derived from weathering products of acidic rock group are generally classified into two groups, the kaolin mineral group, and the kaolin minerals and vermiculite group.

• Journal of the Korean Society of Costume
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• v.32
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• pp.313-336
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• 1997

Nineteen stimulus photograghs varied in hue and color scheme of one clothing style of Korean dress worn by a female were used to investigate the effect of color color scheme and structure on impression formation for Korean dress. Subjects were 77 male and 86 female undergraduate and graduate students. The stimuli c9onsisted of two sets(cool and warm) of four similar color schemes two sets (cool and warm in Chima color) of five contrasting color schemes and one extra stimulus triad 3 hue base. Structures were de-fined by color schemes of Kit.Korum toward the color schemes of Jokori and Chima. Stimu-lus photogragh selected from Korean dress fashion magazines was managed and varied in hues and color schemes to Kit Korum Jokori and Chima according to Korean Standard Color through scanning and Adobe photoshop 3.0 program and then pictured through slide printer(HR-6000). Each subject assessed 19 stimulus color photographs with incorporated 7 point semantic differential response scale. The data were analyzed by frequency mean factor analysis t-test ANOVA and Scheffe test. Results indicate impression ofrmations are af-fected by clothing cues. 1) Four factors emerged to account for dimensional structure of impressions of female features on Korean dress. These four factors were titled as(1) preference.evaluation (2) individuality.attention (3) youth and (4) friendshio. The preference.evaluation factor was the largest including eleven adjectives and accounting for 29.62% of the variances. 2) Almost every clothing cue(color, color scheme, structure) had some effects on im-pressions formed But the color of Chima did not form the effects on impression of prefer-ence.evaluation factor. The effect of related color scheme was the most influential clothing cue on impressions of preference.evalation factor and friendship factor whereas the ef-fect of contrasting color scheme was the most influential clothing cue on impressions of indi-viduality.attention factor and youth factor. The effect of cool color of Chima was the most influential clothing cue on impression of indi-viduality.attention factor whereas the effect of warm color of Chima was the most influen-tial clothing cue on impressions of youth factor and friendship factor. The effect of Jokori/Chima.Kit.Korum structure was the most influential clothing cue on impressions of pref-erence.evaluation factor and youth factor whereas the effect of Kit.Korum/Jokori.Chima structure was the most influential clothing cue on impressions of individuality.attention factor and friendship factor. 3) The interaction effects were appeared among clothing cues. Significant interaction effects between color schemes(similar and contrasting) and colors of Chima(cool and warm were appeared on impressions of prefer-ence.evaluation factor imdividuality.atten-tion factor and friendship factor, Significant interaction effects between color schemes (similar and contrasting) and structures (Jokori.Chima.Kit.Korum; Jokori.Kit.Koru-m/Chima;Jokori/Chima.Kit.Korum;Kit.Korum/Jokori.Chima) were appeared on impressions of preference.evaluation factor youth factor and friendship factor. Signifi-cant interaction effects between colors(cool and warm) and structures were appeared on impressions of individuality.attention factor youth factor and friendship factor. Sighifi-cant interaction effects between colors(cool and warm) and structures were appeared on impressions of individuality.attention factor youth factor and friendship factor. Significant interaction effects among clothing cues(color color schemes and structures) were appeared on all impression factors. The friendship factor was the most friquently affected impression factor by interaction effects among clothing cues. In summary the clothing was used as nonverbal cues in the effect on impression for-mation of female dressed in Korean dress. it concluded that color schemes worked as cen-tral traits and colors of Chima and structures worked as peripheral traits in the formation of impression of the female clothed in Korean dress. hence organizing our impressions with respect to the parts of the Korean dress in re-lation to the whole holistic perceptual pro-cess Gestalt approach was used and supported.

• Proceedings of the Korean Society for Applied Microbiology Conference
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• 2005.06a
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• pp.154-164
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• 2005

Saccharomyces cerevisiae KNU5377 is a thermotolerant strain, which can ferment ethanol from wasted papers and starch at 40$^{\circ}C$ with the almost same rate as at 30$^{\circ}C$. This strain showed alcohol fermentation ability to convert wasted papers 200 g (w/v) to ethanol 8.4% (v/v) at 40$^{\circ}C$, meaning that 8.4% ethanol is acceptable enough to ferment in the industrial economy. As well, all kinds of starch that are using in the industry were converted into ethanol at 40$^{\circ}C$ with the almost same rate as at 30$^{\circ}C$. Hyperthermic cell killing kinetics and differential scanning calorimetry (DSC) revealed that exponentially growing cells of this yeast strain KNU5377 were more thermotolerant than those of S. cerevisiae ATCC24858 used as a control. This intrinsic thermotolernace did not result from the stability of entire cellular components but possibly from that of a particular target. Heat shock induced similar results in whole cell DSC profiles of both strains and the accumulation of trehalose in the cells of both strains, but the trehalose contents in the strain KNU5377 were 2.6 fold higher than that in the control strain. On the contrary to the trehalose level, the neutral trehalase activity in the KNU5377 cells was not changed after the heat shock. This result made a conclusion that though the trehalose may stabilize cellular components, the surplus of trehalose in KNU5377 strain was not essential for stabilization of whole cellular components. A constitutively thermotolerant yeast, S. cerevisiae KNU5377, was compared with a relatively thermosensitive control, S. cerevisiae ATCC24858, by assaying the fluidity and proton ATPase on the plasma membrane. Anisotropic values (r) of both strains were slightly increased by elevating the incubation temperatures from 25$^{\circ}C$ to 37$^{\circ}C$ when they were aerobically cultured for 12 hours in the YPD media, implying the membrane fluidity was decreased. While the temperature was elevated up to 40$^{\circ}C$, the fluidity was not changed in the KNU5377 cell, but rather increased in the control. This result implies that the plasma membrane of the KNU5377 cell can be characterized into the more stabilized state than control. Besides, heat shock decreased the fluidity in the control strain, but not in the KNU5377 strain. This means also there's a stabilization of the plasma membrane in the KNU5377 cell. Furthermore, the proton ATPase assay indicated the KNU5377 cell kept a relatively more stabilized glucose metabolism at high temperature than the control cell. Therefore, the results were concluded that the stabilization of plasma membrane and growth at high temperature for the KNU5377 cell. Genome wide transcription analysis showed that the heat shock responses were very complex and combinatory in the KNU5377 cell. Induced by the heat shock, a number of genes were related with the ubiquitin mediated proteolysis, metallothionein (prevent ROS production from copper), hsp27 (88-fold induced remarkably, preventing the protein aggregation and denaturation), oxidative stress response (to remove the hydrogen peroxide), and etc.

• Journal of Veterinary Clinics
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• v.28 no.2
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• pp.204-210
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• 2011

The presence of the tick-borne pathogens Ehrlichia and Borrelia in German Shepherd dogs in Korea was determined by enzyme-linked immunosorbent assay (ELISA) and polymerase chain reaction (PCR). A total of 291 dogs were randomly selected from five Korean provinces from October 2005 through September 2006. The seroprevalence of antibodies to canine Ehrlichia and Borrelia agents detected by ELISA (Snap$^{(R)}$ 3Dx$^{(R)}$ Test, IDEXX Laboratories) was 7.56% (22 dogs) and 1.72% (5 dogs) respectively, throughout the country. Positive antibodies against both pathogens were detected in two dogs (0.69%). The provincial distribution of seroprevalence against Ehrlichia was 1.28% (1 of 78) in Gyeonggi-do, 12.64% (11 of 87) in Gangwon-do, 9.76% (4 of 41) in Chungcheong-do, 8.93% (5 of 56) in Gyeongsang-do, and 3.45% (1 of 29) in Jeolla-do. According to PCR analysis, Ehrlichia chaffeensis target DNA was amplified in 3.09% (9 of 291 dogs) of blood samples, 2.41% (7 of 291) from Gangwon-do and 0.69% (2 of 291) from Chungcheong-do. The oligonucleotide sequences (SNU-EC3 and SNU-EC5) from the PCR fragment examined in Korea were closely related to E. chaffeensis isolated from the tick Haemaphysalis longicornis, in China and the state of Arkansas in the US. Based on these results, the presence of E. chaffeensis infection was identified in German Shepherds being bred in Korea. These results bring to light the importance of paying close attention to tick-borne infections such as Lyme disease during clinical diagnosis. This infectious disease should be included as a differential diagnosis for patients who participate in outdoor activity from spring to fall or who have thrombocytopenia or leucopenia.

• Nuclear Medicine and Molecular Imaging
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• v.43 no.4
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• pp.317-322
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• 2009

Purpose: $^{18}$F-flurodeoxyglucose (FDG) uptake on positron emission tomography (PET) scan has been found to reflect tumor aggressiveness and prognosis in various types of cancer. However, pattern of FDG uptake in biliary malignancies and its clinical significance have not been studied well. The purpose of this study was to assess the additional value of $^{18}$F-FDG PET in differential diagnosis and prognosis of cholangiocarcinoma (CC) according to the tumor location and tumor morphology. Materials and Methods: From April 2005 to May 2008, eighty two patients (M:F = 55:27, age 66.2$\pm$9.6 yrs) with CC underwent $^{18}$F-FDG PET. For semiquantitative analysis, the maximum standardized uptake value (SUV$_{max}$) was obtained from the primary tumor. The difference of SUV$_{max}$ according to the tumor location and tumor growth pattern, such as scirrhous type, nodular type, polypoid type were compared. Results: Overall sensitivity of PET scan was 81.7% in CC. SUV$_{max}$ on PET scan in intrahepatic CC was significantly higher compared to extrahepatic CC. In extrahepatic CC, polypoid type showed significantly higher SUV$_{max}$ compared to scirrhous type. Conclusion: $^{18}$F-FDG PET may have a significant impact on clinical decision-making and on the management of intrahepatic cholangiocarcinoma. And it is related to the shape of the tumor and the sensitivity of detection is higher in the mass-forming type than in the scirrhous type.

• Korean Journal of Food Science and Technology
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• v.46 no.6
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• pp.750-756
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• 2014

This study was performed to understand the effect of cultivation periods on the physicochemical characteristics of the starch of five sweetpotato cultivars, cultivated in Muan, Korea. Starch, protein, and ash contents increased with increased cultivation period, whereas amylose content decreased. Rapid viscosity analysis showed that the pasting temperature, peak viscosity, breakdown, setback and final viscosity increased with increased cultivation period. However, trough and final viscosity decreased. Although the onset temperature and peak temperature values increased, the conclusion temperature did not show any consistent patterns by differential scanning calorimetry. X-ray diffraction showed that the starch samples had C-type crystallinity irrespective of the cultivation period and cultivar. The starch granules were dominantly round and oval, or polygonal irrespective the cultivation period. The bigger the particle size was, the longer the cultivation period was.

• Tuberculosis and Respiratory Diseases
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• v.48 no.4
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• pp.487-499
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• 2000

Background : Acute lung injury is an hypoxic respiratory failure resulting from damage to the alveolar-capillary membrane, which can be developed by a variety of systemic inflammatory diseases. In this study the therapeutic effects of intra-tracheal pulmonary surfactant instillation was evaluated in the intratracheal endotoxin induced acute lung injury model of a rat. Methods : Twenty Sprague-Dawley rats were divided into 4 groups, and normal saline (2 ml/kg, for group 1) or LPS (5 mg/kg, for group 2, 3, and 4) was instilled into the trachea respectively. Either normal saline (2 ml/kg, for group 1 & 2, 30 min later) or bovine surfactant (15 mg/kg, 30 min later for group 3, 5 hr later for group 5) was instilled into the trachea. The therapeutic effect of intratracheal surfactant therapy was evaluated with one chamber body plethysmography (respiratory frequency, tidal volume and enhanced pause), ABGA, BAL fluid analysis (cell count with differential, protein concentration) and pathologic examination of the lung. Results : Intratracheal endotoxin instillation increased the respiration rate decreased the tidal volume and int creased the Penh in all group of rats. Intratracheal instillation of surfactant decreased Penh, increased arterial oxygen tension, decreased protein concentration of BAL fluid and decreased lung inflammation at both times of administration (30 minute and 5 hour after endotoxin instillation). Conclusion : Intratracheal instillation of surfactant can be a beneficial therapeutic modality as discovered in the acute lung injury model of rats induced by intratracheal LPS intillation. It deserves to be evaluated for treatment of human acute lung injury.