• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.5-13
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• 2012

I-cell disease (mucolipidosis type II; MIM 252500) and pseudo-Hurler polydystrophy (mucolipidosis type III; MIM 252600) are disorders caused by abnormal lysosomal transport in cells. The presence of numerous inclusion bodies in the cytoplasm of fibroblasts, a lack of mucopolysacchariduria, increased lysosomal enzyme activity in serum, and decreased GlcNAc-phosphotransferase activity are hallmark. Here, we attempted to investigate phenotypical and biochemical characteristics of the knockoutmouse of GlcNAc-phosphotransferase ${\alpha}/{\beta}$ subunits; in addition, we also attempted to determine whether the lysosome enriched fraction derived from placenta can be beneficial to phenotype and biochemistry of the knockout mouse.We found that the knockout mouse failed to thrive and had low bone density, as is the case in human. In addition, skin fibroblasts from the animal had the same biochemical characteristics, including increased lysosomal enzyme activity in the culture media, in contrast to the relatively low enzyme activity within the cells. Intravenous injection of the lysosome rich fraction derived from placenta into the tail vein of the animal resulted in a gain of weight, while saline injected animals didn't.In conclusion, our study demonstrated the phenotypical and biochemical similarities of the knockout mouse to a mucolipidosis type II patient and showed the therapeutic potential of the lysosome enriched fraction. We admit that a larger scale animal study will be needed; however, the disease model and the therapeutic potential of the lysosome enriched fraction will highlight the hope for a novel treatment approach to mucopolipidosis type II, for which no therapeutic modality is available.

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.38-45
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• 2005

Purpose : The purpose of this study was to analyze the therapeutic effect of plasmapheresis in various pediatric diseases. Methods : Therapeutic plasmapheresis was performed by COBE Spectra centrifugation. Nine cases were included in this study. The number an[;. method of plasmapheresis, together with the progress and prognosis of each case were retrospectively reviewed. Results : The patients' ages ranged from 26 mont]Is to 16 years of age, and the mean age was 9.9 years. There were S males and 4 females. The underlying diseases requiring plasmapheresis included 2 cases of hemolytic uremic svndrome(HUS), 1 case of lupus nephritis, 2 cases of rapidly Progressive glomerulonephritis(RPGN), 1 case of focal segmental glomorulosclerosis(FSGS), 1 case of systemic vasculitis after pulmonary hemorrhage, 1 case of acute renal failure associated with pulmonary hemoIThage, and 1 case of acute rejection after renal transplantation. The average number of plasmapheresis performed was 6.2 times with a range of 3 to 13 times. The patients with HUS, lupus nephritis, ANCA positive systemic vasculitis induced by pulmonary hemorrhage and ARF-associated pulmonary hemorrhage showed a good response to therapeutic plasmapheresis, but the patients with RPGN, refractory FSGS, and acute rejection after renal transplantation were not responsive to treatment. The most common side effect was hypocalcemia which was rarely symptomatic. Vital signs were not compromised. Conclusion : Although it is presumptuous to generalize the therapeutic effects of plasma pheresis in different diseases due to the small number of study subjects, this study shows that plasmapheresis may be an effective therapeutic modality in various pediatrics diseases and should be considered as a therapeutic option.

• Proceedings of the KSR Conference
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• 2007.11a
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• pp.480-493
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• 2007

Many railway-advanced countries are using the various types of track to reduce the track maintenance and repair cost according to the improvement of velocity. It spends on much maintenance and repair cost for ballast track due to abrasion of ballast, track irregularity and unisotropical ballast-support stiffness. The ballast track on railway bridge is accelerating the deterioration of ballast according to interaction of railway bridge and track. As continuing the deterioration, it is caused dynamic loads. Due to these effects, it increases negative loads of track and bridge. However, when designing the railway bridge, the effect of ballast track was applicate only dead load, so elastic behavior effect of ballast track is not influenced. Therefore, this paper presumes the stiffness of ballast track on railway bridge considering dynamic behavior of railway bridge, it was evaluated that effect on dynamic behaviors of railway bridge according to ballast track stiffness.

• Reproductive and Developmental Biology
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• v.31 no.3
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• pp.139-143
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• 2007

This study was performed to investigate the reproductive characteristics of the cloned Hanwoo bulls produced by SCNT. The semen ejaculated from the cloned bulls (C-38 and C-39) and normal Hanwoo bull was properly measured the volume, the number of sperm, and the viability of frozen-thawed sperm. The sperm activity was analyzed using computer assisted sperm analysis (CASA). To analyze fertilizing ability of the cloned bulls, in vitro fertilization and artificial insemination were performed using the frozen-thawed semen. There were no differences in semen volume, sperm concentration, and the viability of frozen-thawed sperm between cloned bulls and normal bull. The difference was statistically significant in total motility, curvilinear velocity (VCL), straight-line velocity (VSL), and average-path velocity (VAP) of both cloned bulls compared to those of normal Hanwoo bull, respectively (p<0.05). The cleavage and blastocyst development rate were not different between the groups. five cloned cows were artificially inseminated using the frozen-thawed semen of C-38, two of them became pregnant. Two second generation calves (one male and one female) were produced. Based on these results, the cloned Hanwoo bulls showed normal reproductive abilities of semen parameters and sperm activity to their comparators and produced cloned calves, although there are some individual differences on the parameters.