• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.31-37
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• 2017

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed-onset cases are predominantly adolescents or adults, and infantile delayed-onset cases are rare. Severe hyperammonemia in the neonatal period leads to serious brain damage, coma, and death if not treated promptly. Therefore, early diagnosis and acute treatment are crucial. Despite the improvement of treatments, including continuous hemodialysis, ammonia-lowering agents, and a low-protein diet, the overall outcome of severe forms of hyperammonemia often remains disappointing. As the liver is the only organ in which ammonia is converted into urea, liver transplantation has been considered as an elegant and radical alternative therapy to classical dietary and medical therapies. However, liver transplantation has many disadvantages, such as a considerable risk for technical complications and perioperative metabolic derangement, especially in neonates. Additionally, there is a lack of suitable donor organs in most countries. According to recent studies, liver cell transplantation is a therapeutic option and serves as a bridge to liver transplantation. Here, we report a Korean CPS1D patient with novel mutations in CPS1 who was treated by liver cell transplantation after being diagnosed in the neonatal period and showed a good neurodevelopmental outcome at the last follow-up at six months of age.

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1132-1138
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• 2005

Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.

• Journal of Intelligence and Information Systems
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• v.17 no.4
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• pp.255-277
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• 2011

Product Service System(PSS), which is an integrated combination of product and service, provides new value to customer and makes companies sustainable as well. The objective of this paper draws Critical Successful Factors(CSF) of PSS through multiple case study. First, we review various concepts and types in PSS and Platform business literature currently available on this topic. Second, after investigating various cases with the characteristics of PSS and platform business, we select four cases of 'iPod of Apple', 'Kindle of Amazon', 'Zune of Microsoft', and 'e-book reader of Sony'. Then, the four cases are categorized as successful and failed cases according to criteria of case selection and PSS classification. We consider two methodologies for the case selection, i.e., 'Strategies for the Selection of Samples and Cases' proposed by Bent(2006) and the seven case selection procedures proposed by Jason and John(2008). For case selection, 'Stratified sample and Paradigmatic cases' is adopted as one of several options for sampling. Then, we use the seven case selection procedures such as 'typical', 'diverse', 'extreme', 'deviant', 'influential', 'most-similar', and 'mostdifferent' and among them only three procedures of 'diverse', 'most?similar', and 'most-different' are applied for the case selection. For PSS classification, the eight PSS types, suggested by Tukker(2004), of 'product related', 'advice and consulancy', 'product lease', 'product renting/sharing', 'product pooling', 'activity management', 'pay per service unit', 'functional result' are utilized. We categorize the four selected cases as a product oriented group because the cases not only sell a product, but also offer service needed during the use phase of the product. Then, we analyze the four cases by using cross-case pattern that Eisenhardt(1991) suggested. Eisenhardt(1991) argued that three processes are required for avoiding reaching premature or even false conclusion. The fist step includes selecting categories of dimensions and finding within-group similarities coupled with intergroup difference. In the second process, pairs of cases are selected and listed. The second step forces researchers to find the subtle similarities and differences between cases. The third process is to divide the data by data source. The result of cross-case pattern indicates that the similarities of iPod and Kindle as successful cases are convenient user interface, successful plarform strategy, and rich contents. The differences between the successful cases are that, wheares iPod has been recognized as the culture code, Kindle has implemented a low price as its main strategy. Meanwhile, the similarities of Zune and PRS series as failed cases are lack of sufficient applications and contents. The differences between the failed cases are that, wheares Zune adopted an undifferentiated strategy, PRS series conducted high-price strategy. From the analysis of the cases, we generate three hypotheses. The first hypothesis assumes that a successful PSS system requires convenient user interface. The second hypothesis assumes that a successful PSS system requires a reciprocal(win/win) business model. The third hypothesis assumes that a successful PSS system requires sufficient quantities of applications and contents. To verify the hypotheses, we uses the cross-matching (or pattern matching) methodology. The methodology matches three key words (user interface, reciprocal business model, contents) of the hypotheses to the previous papers related to PSS, digital contents, and Information System (IS). Finally, this paper suggests the three implications from analyzed results. A successful PSS system needs to provide differentiated value for customers such as convenient user interface, e.g., the simple design of iTunes (iPod) and the provision of connection to Kindle Store without any charge. A successful PSS system also requires a mutually benefitable business model as Apple and Amazon implement a policy that provides a reasonable proft sharing for third party. A successful PSS system requires sufficient quantities of applications and contents.

• 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.22 no.2
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• pp.138-145
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• 2013

In order to develop the efficient control algorithm of the two-fluid fogging system, cooling experiments for the many different types of fogging cycles were conducted in tomato greenhouses. It showed that the cooling effect was 1.2 to $4.0^{\circ}C$ and the cooling efficiency was 8.2 to 32.9% on average. The cooling efficiency with fogging interval was highest in the case of the fogging cycle of 90 seconds. The cooling efficiency showed a tendency to increase as the fogging time increased and the stopping time decreased. As the spray rate of fog in the two-fluid fogging system increased, there was a tendency for the cooling efficiency to improve. However, as the inside air approaches its saturation level, even though the spray rate of fog increases, it does not lead to further evaporation. Thus, it can be inferred that increasing the spray rate of fog before the inside air reaches the saturation level could make higher the cooling efficiency. As cooling efficiency increases, the saturation deficit of inside air decreased and the difference between absolute humidity of inside and outside air increased. The more fog evaporated, the difference between absolute humidity of inside and outside air tended to increase and as the result, the discharge of vapor due to ventilation occurs more easily, which again lead to an increase in the evaporation rate and ultimately increase in the cooling efficiency. Regression analysis result on the saturation deficit of inside air showed that the fogging time needed to change of saturation deficit of $10g{\cdot}kg^{-1}$ was 120 seconds and stopping time was 60 seconds. But in order to decrease the amplitude of temperature and to increase the cooling efficiency, the fluctuation range of saturation deficit was set to $5g{\cdot}kg^{-1}$ and we decided that the fogging-stopping time of 60-30 seconds was more appropriate. Control types of two-fluid fogging systems were classified as computer control or simple control, and their control algorithms were derived. We recommend that if the two-fluid fogging system is controlled by manipulating only the set point of temperature, humidity, and on-off time, it would be best to set up the on-off time at 60-30 seconds in time control, the lower limit of air temperature at 30 to $32^{\circ}C$ and the upper limit of relative humidity at 85 to 90%.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.33-42
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• 2004

Purpose : Children with nephrotic syndrome(NS) are under high risk for metabolic bone disease(MBD) as a complication of long-term glucocorticoid therapy. We prospectively evaluated the effect of oral bisphosphonate(alendronate) therapy in children with NS, which has proven efficacy in adult patients with glucocorticoid induced MBD. Methods : Among 58 children with NS, aged 5 to 8 years and haying a disease duration of more than 2 years, 30(51.7%) were enrolled to meet the selection criteria, less than -1.0 Z-scores of lumbar spine bone mineral density(BMD) by dual energy X-ray absorptiometry (DEXA). These 30 children were divided into three groups and each were assigned to receive alendronate, calcitriol, and no-medication, respectively for one year. Lumbar spine BMD was followed up every 6 months and the biochemical indexes were measured before and 1 year after the treatment. There were no significant difference among groups with respect to the average age, the initial BMD, and the cumulative steroid doses. Analysis of the treatment efficacy was done by the % change of BMD and by the changes in Z-scores of lumbar spine BMD. Results : Mean age and disease duration of patients at the initial lumbar spine BMD evaluation was $7.4{\pm}1.7$ years and $2.2{\pm}1.2$ years, respectively. Twenty-three of 30 children(76%) had osteopenia, and seven(23%) had osteoporosis. There was no difference in the biochemical values among the groups, before and 1 year after the treatment(P<0.05). Twenty two children(73.3%) with frequent relapsing or steroid dependant NS had more frequent MBD, compared to the 8 children(26.6%) with infrequent relapsing NS. The one year % changes of BMD were 8.56 in alendronate group, 5.79 in calcitriol group, and 1.9 in no-medication group. The changes in Z-score of lumbar spine BMD increased in the alendronate group and the calcitriol group, but not in the no-medication group. One year % changes of BMD were different among groups(P=0.0002). Significant differences were found between the alendronate and the no-medication group, and between the calcitriol and the no-medication group(P<0.05). There was no difference between the alendronate and the calcitriol group. No serious adverse effect was observed in the alendronate group. Conclusion : Children with NS receiving high dose steroids are under the high risk of BMD and should undergo regular BMD evaluation. Z-score of lumbar spine BMD was a useful parameter in diagnosing low bone mass in children. Alendronate weekly oral therapy was effective and relatively safe in increasing the lumbar spine BMD in children with NS having steroid induced MBD.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.213-220
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• 2008

Purpose : This study aims to verify the effectiveness of initial empirical antibiotic choice recommended by the International Society for Peritoneal Dialysis(ISPD) guide among Korean children. Methods : We have collected data on peritonitis from January 2001 to December 2007 in Samsung Medical Center. Results : Of the 42 patients, 48 episodes of peritonitis had occurred in 21 patients. The rate of peritonitis was one episode over 35.3 patient-months. Mean dialysis duration before peritonitis was 18.06$\pm$15.81 months. Gram-positive organisms accounted for 58.3% of all episodes. Of the gram-positive organisms, the most common pathogen was Staphylococcus aureus(29.2%), the next common pathogens were Coagulase negative staphylococcus(14.6%) and Streptococcus species(6.3%). 35.7% of gram-positive pathogens were resistant to 1st cephalosporin. However, in patients younger than 4 years old, 50% of gram-positive pathogens were resistant to 1st generation cephalosporin. 10 episodes of peritonitis were methicillin-resistant and were treated by vancomycin. Of the gram-negative organisms, E. coli was the most common (8.3%). 64.8% of all pathogens were sensitive to cephalothin or ceftazidime. Conclusion : The empirical therapy with 1st generation cephalosporin and ceftazidime can be also effective to peritoneal dialysis associated peritonitis in Korean children. However, in patients younger than 4 years old, glycopeptide should be considered as the first empirical therapy in Korean children.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.135-141
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• 2014

Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.

• Journal of the Mineralogical Society of Korea
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• v.22 no.3
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• pp.241-248
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• 2009

Kaolinite was synthesized from amorphous $SiO_2$ and $Al(OH)_3{\cdot}xH_{2}O$ as starting materials by hydrothermal reaction conducted at $250^{\circ}C$ and $30\;kg/cm^2$. The acidity of the solution was adjusted at pH 2. The synthesized kaolinite was characterized by XRD, IR, NMR, FE-SEM, TEM and EDS to clarify the formational process according to the reaction time from 2 to 36 hours. X-ray diffraction patterns showed after 2 h of reaction time, the starting material amorphous $Al(OH)_3{\cdot}xH_{2}O$ transformed to boehmite (AlOOH) and after the reaction time 5 h, the peaks of boehmite were observed to be absent thereby indicating the crystal structure is partially destructed. Kaolinite formation was identified in the product obtained after 10 h of reaction and the peak intensity of kaolinite increased further with reaction time. The results of TGA and DTA revealed that the principal feature of kaolinite trace are well resolved. TGA results showed 13 wt% amount of weight loss and DTA analysis showed that exothermic peak of boehmite observed at $258^{\circ}C$ was decreased gradually and after 10 h of reaction time, it was disappeared. After 5 h of the reaction time, the exothermicpeak of transformation to spinel phase was observed and the peak intensiy increased with reaction time. The results of FT-IR suggested a highly ordered kaolinite was obtained after 36 hours of reaction. It was identified by the characteristic hydroxide group bands positioned at 3,696, 3670, 3653 and $3620\;cm^{-1}$. The development of the hydroxyl stretching between 3696 and $3620\;cm^{-1}$, depends on the degree of order and crystalline perfection. TEM results showed that after 15 h reaction time, curved platy kaolinite was observed as growing of (001) plane and after 36 h, the morphology of synthetic kaolinite exhibited platy crystal with partial polygonal outlines.

• 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.