• Journal of Genetic Medicine
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• v.5 no.2
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• pp.139-144
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• 2008

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

• 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.

• Journal of Bio-Environment Control
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• v.16 no.1
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• pp.54-61
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• 2007

To determine whether antioxidant enzyme systems are related to chilling tolerance, changes of antioxidant enzyme activities during the chilling stress were determined in the leaves of a chilling-tolerant cultivar (Cucurbita ficifolia, cv. Heukjong) and a chilling-sensitive cultivar (Cucurbita moschata, cv. Jaerae 13). Leaves of chilling-tolerant plant have two major isoforms, Fe-SOD and Mn-SOD, at the Rm values of 0.20 and 0.52, respectively. In leaves of chilling-sensitive plant, two major isozymes of SOD was observed, one isoform is Mn-SOD at the Rm value of 0.20, and the other isoform is Cu/zn-SOD at the nm value of 0.58. When plants were treated with chilling stress, Cu/zn-SOD at the Rm value of 0.58 was newly expressed at 10 days after chilling stress in the chilling-tolerant plants, and density of this band increased at five days after chilling stress in the chilling-sensitive plants. One APX isozyme band was observed in unstressed plants of both cultivars. Under the chilling stress one APX isozyme band was newly expressed at 10 days after chilling stress in the chilling-tolerant cultivar. Significant genotype differences were observed fnr POD isozyme banding patterns such as few main isozyme bands in chilling-tolerant plants, and one band in chilling-sensitive plants. Densities of three POD isozyme bands at the Rm of 0.36, 0.40 and 0.54 increased at 10 days after chilling stress in the chilling-tolerant plants, while two bands at the nm of 0.36 and 0.54 increased at 10 days and 20 days after chilling stress in the chilling-sensitive plants, respectively. Activities of SOD, APX and POD significantly increased during five days after chilling stress in both cultivars. In the chilling-tolerant cultivar, activities of these enzymes were higher in chilling-stressed plant than in unstressed plants. However, activities of these enzymes in the chilling-sensitive cultivar decreased rapidly after five days of chilling stress, and were lower in chilling stressed plants than in unstressed plants.

• The Journal of the Petrological Society of Korea
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• v.4 no.2
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• pp.104-123
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• 1995

Mantle xenoliths in alkali basalt from Boun, Gansung area, and Baegryung island in S. Korea are spinel lherzolites composed of olivine, orthopyroxene, clinopyroxene, and spinel. The xenoliths generally show triple junctions among grams, kink-banding in olivine and pyroxenes, and protogranular and eqigranular textures having m orlentatron of specific direction. Anhedral brown spinels are disseminated in the intergranular spaces of minerals. Mineral compositions are very homogeneous without compositional zonation from rim to core in grains regardless different locahties. Olivine shows Fo. component of 89.0-90.2 and low CaO of 0.03-0.12wt%, orthopyroxene is enstatite with En component of 89.0 - 90.0 and $Al_2O_3$ of 4-5wt%, and clinopyroxene is diopside having En. component of 47.2-49.1 and $Al_2O_3$ of 7.42-7.64wt% from Boun and 4.70-4.91wt% from Baegryung showing local variation. Spinel shows the distinctive negative trend with increasing of A1 and decreasing of Cr, and Mg value and Cr number are 75.1-81.9 and 8.5-12.6, respectively. To estlmate T and P for these mantle xenoliths pyroxene-geothermometers (Wood and Banno, 1973; Wells, 1977; Mercier, 1980; Sachtleben and Seck, 1981; Bertrand and Mercier, 1985; Brey and Kohler, 1990) and Al-solubility geobarometer (Mercier, 1980; Lane and Ganguly, 1980) are used. Temperatures of Mercier (1980) and Sachtleben and Seck (1981) are compatible and equilibrium temperatures of xenoliths, average value of these two, aiie from $970^{\circ}C$ to $1020^{\circ}C$, and equihbrium pressures derived from Mercier (1980) are in the range of 12-19 Kb (42-63 Km). These temperatures and pressures seem to be reasonble wlth the consideration of Al-isopleths in MAS system (Lane and Ganguly, 1980) and Fe effect on Al-solubility in orthopyroxene (Lee and Ganguly, 1988). Equllibrium of temperatures and pressures of xenoliths in P-T space belong to ocenanic geothem among the Mercier's mantle geotherms (1980) and are completely different from continental geotherms of S. Africa (Lesotho) and S. India having different geologcal ages. anera1 compositions of spmel-lherzohtes in S. Korea and eastern China are primitwe and paleogeothems of both are very s~mllar, but degrees of depletion of upper mantle could be locally different from each other since eastern China has various depleted xenoliths due to different degrees of partial melting.

• Journal of Chest Surgery
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• v.42 no.5
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• pp.597-603
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• 2009

Background: Atrioventricular valve regurgitation in pediatric patients with a functional single ventricles (FSV) - has been known as one of the important risk factors for death and unfavorable long-term results after a Fontan operation. We evaluated early and mid-term results of bivalvation valvuloplasty in FSV patients. Material and Method: We retrospectively evaluated 11 patients with a functional single ventricle who underwent bivalvationvalvuloplasty between 1999 and 2007. The degree of common atrioventricular valve regurgitation (CAVVR) was determined by color Doppler echocardiography (regurgitation grade scoring, trivial; 1, mild; 2, moderate; 3, severe; 4). Mean age at valve surgery was $6.9{\pm}7.0$ months (median 4 months, 24 days$\sim$21 months)and mean body weight was $6.2{\pm}2.8\;kg$ ($3.1{\sim}11.3\;kg$). Nine patients had isomerism heart and two of them had TAPVC. The concomitant procedures were performed in all but one patient. Additional commissural closure was performed in 3 patients and commissural annuloplasty in another 3 patients. Result: There was one hospital death after. surgery. A 32-day old patient who had been preoperatively dependent on a ventilator died of air way and lung problems 4.3 months after pulmonary artery banding and bivalvation valvuloplasty. Mean follow-up duration was 40 months ($4.3{\sim}114$ months). Mean preoperative CAVVR score was $3.3{\pm}0.6$, which decreased to $1.9{\pm}0.7$ postoperatively (p<0.0001). This residual regurgitation slightly increased to $2.2{\pm}0.4$ (no statistical significance) after a mean follow-up of 1.4.3 months. Six patients (60%) required re-operations for residual regurgitation at a subsequent bidirectionalcavopulmonary shunt or Fontan operation. One patient with Ebsteinoid malformation of the right sided atrioventricular valve required valve replacement due to stenoinsufficiency. Another patient required edge-to-edge repair at the right sided AV valve (between the right mural leaflet and the bridging leaflets). The remaining 4 patients required additional suture placements between bridging leaflets with or without commissural annuloplasty. All survivor had trivial or mild CAVVR at the latest follow-up. Conclusion: Bivalvation valvuloplasty for CAVVR in FSV patients is. an effective and safe procedure. However, significant numbers of the patients have small residual regurgitation and require additional valve procedures at subsequent operations. Long-term observations to monitor progression of the CAVVR is mandatory.

• Korean Journal of Microbiology
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• v.48 no.4
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• pp.240-245
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• 2012

Pseudomonas aeruginosa is an opportunistic Gram-negative bacterium that causes serious infection, particularly in immunocompromised patients. Also, P. aeruginosa possessing carbapenem-resistant metallo-${\beta}$-lactamases (MBL) has been reported with increasing frequency in Korea. We therefore analyzed the level of multidrug-resistant clinical P. aeruginosa isolated from a secondary hospital in Korea in 2010. A total of 92 isolates of P. aeruginosa were collected from Sahmyook Medical Center in 2010. Susceptibility to antimicrobial agents was determined by analysis of the minimum inhibitory concentration test; the inhibitor-potentiated disk diffusion (IPD) test was performed for MBL detection. RAPD-PCR was used for genotyping to rapidly characterize P. aeruginosa strains isolated from clinical patients. The percentages of non-susceptible isolates were as follows: 40.2% to ceftazidime, 58.7% to meropenem, 56.5% to gentamicin, 46.7% to tobramycin, 62.0% to ciprofloxacin and 97.8% to chloramphenicol. The 29 multidrug-resistant strains were screened by the IPD test: of the 21 PCR-positive isolates, 19 were IPM-1 producers and 2 were VIM-2 producers. Among the 19 IMP-1-producing P. aeruginosa isolates, 16 isolates showed similar patterns, and three different banding patterns were observed. The proportion of IMP-1-producing multidrug-resistant P. aeruginosa from clinical isolates steadily increased in this secondary hospital in Korea in 2010. This study provides information about the antimicrobial-resistant patterns and genotype of multidrug-resistant P. aeruginosa isolated from clinical isolates in Korea, 2010.

• Journal of the Korean Society of Food Science and Nutrition
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• v.35 no.2
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• pp.199-204
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• 2006

This study was conducted to investigate the quality characteristics of noodles prepared with the addition of nanofiltered (NF) powder of sunmul. Noodles were prepared with different levels $(0\%,\;1.5\%,\;3\%\;and\;5\%,\;w/w)$ of NF powder and physico-chemical properties were examined. Results of rapid visco analyzer showed that peak, trough, final viscosity and set back decreased as the NF powder level increased. The weight and volume of cooked noodles increased with the addition of NF powder. Turbidity of soup also increased as the amount of NF powder increased, indicating higher cooking loss. The color of wet and cooked noodles became greenish yellow as the NF powder level increased. Hardness, springiness, gumminess and brittleness of cooked noodles decreased with the increasing amount of NF powder. Results of sensory evaluation showed that noodles prepared with up to $3\%$ addition of NF powder was considered to be as acceptable as noodles prepared without NF powder.

• Journal of Korean Society of Forest Science
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• v.29 no.1
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• pp.102-114
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• 1976

This experiment was conducted to investigate the percentage of fertile seed in terms of crossabilities and relationships of taxonomic affinities for the ${\times}$ P. rigitaeda of interspecific hybrid, ${\times}$ P. rigida rigitaeda and ${\times}$ P. rigitaeda rigida of backcross hybrids, $F_2$ of ${\times}$ P. rigitaeda and natural hybrid of ${\times}$ P. rigitaeda within Sub-genus Diploxylon of the Genus Pinus. The possibility of establishment of hybrid seed orchard and differentia of hybrids for the purpose of extensive program of reforestation in the future have also been investigated. And, the experimental results obtained are summarized as follows: 1. On the basis of crossabilities as well as on the taxonomic affinities according to the systems of Shaw, Pilger and Duffield, it has been proven that the parental species of those hybrids are of close affinities and range of the fertile hybrid seed production rate was as high as 67-87% in the best hybrid combination (Table 6). 2. Those hybrids seemed to be most promising in the growth perfermance exhibiting 28-80% more volume growth compared to the P. rigida with the statistic significance of 1-5% level (Table 7, 8, 9). And all hybrids exhibit cold hardiness as much as P. rigida except $F_1$ hybrid of ${\times}$ P. rigitaeda and it seems to suggest that the characteristics of cold hardiness were transmitted from the P. rigida. 3. With regard to the anatomical characteristics of needle, the hypoderm is biform in most of the hybrid pines and the characteristics of resin canals are medial in all hybrid. And, the fibrovascular bundles are intermediate of both parent in all hybrid. Therefore it was found to be possible to distinguish the hybrids pines from their parents by the needle characteristics (Table 10). 4. It has been demonstrated that the hybrids pines have a phenolic substance (No. 7) of pale yellow at Rf-0.66, same as P. rigida, but no trace of phenolic substance was observed in the P. taeda. This fact will serve as an important criteria for early identification of hybridity in progeny testing (Table 11). 5. It was found to be possible to distinguish by the starch gel electrophoretic variations banding patterns and staining densities of isoperoxidase in the needles of the hybrids pines from their parents (Fig. 1).

• Journal of Chest Surgery
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• v.39 no.2 s.259
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• pp.99-105
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• 2006

Background: Interrupted aortic arch is a rare congenital heart anomaly which still shows high surgical mortality. In this study, we investigated the causes of and the risk factors for mortality to improve the surgical outcomes for this difficult disease entity. Material and Method: From 1984 to 2004, 42 patients diagnosed as IAA were reviewed retrospectively. Age, body weight at operation, preoperative diagnosis, preoperative PGE1 requirement, type of interrupted aortic arch, degree of left ventricular outflow stenosis, CPB time, and ACC time were the possible risk factors for mortality. Result: There were .14 hospital deaths. Preoperative use of PGE1, need for circulartory assist and aortic cross clamp time proved to be positive risk factors for mortality on univariate analysis. Preoperative left ventricular outflow stenosis was considered a risk factor for mortality but it did not show statistical significance (p-value=0.61). Causes of death included hypoxia due to pulmonary banding, left ventricular outtract stenosis, infection, mitral valve regurgitation, long cardiopulmonary bypass time and failure of coronary transfer failure in TGA patients. Conclusion: In this study, we demonstrated that surgical mortality is still high due to the risk factors including preoperative status and long operative time. However preoperative subaortic dimension was not related statistically to operative death statistically. Adequate preoperative management and short operation time are mandatory for better survival outcome.

• Korean Journal of Soil Science and Fertilizer
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• v.20 no.3
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• pp.285-299
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• 1987

Timing and placement of fertilizer applications are two managerial means to improve the fertilizer use efficiency. The relative importance of these two means is determined by the application rate. With the realistic rate of N application recommended to the small farmers in the tropics, at present and in the near future, basal application in right manner, seems to be more important than split application at different times. In wetland rice soils, deep placement by whatever available means is desirable. But in the situations where perfect deep placement is very difficult to implement, the whole-layer application may be worth trying, until better methods become available. In rainfed uplands, N fertilizer application plans should be contingent upon the amount and distribution of rainfall: apply a less risky rate as subsurface banding near the crop rows to start with; then, depending upon the rainfall prospects in the season, apply or omit the additional dose. Because the patterns of crop response to N fertilizer can be significantly different between the research farms and farmers' fields, it seems imperative to have information on the patterns of crop response to N under farmers' management conditions, for the development of realistic fertilizer application recommendations. To enable the farmers to adopt improved fertilizer application technologies, it is essential to develop and make available to farmers convenient fertilizer applicators. Past experience with the improved fertilizer use technologies indicates that, in the long run, the development of fertilizers that are not only effective and convenient for farmers to use but also easy to produce without major modifications of existing fertilizer production systems is the ultimate solution to the problem of low N fertilizer use efficiency.