Purpose : This study was performed to report the diagnosis and treatment of nephrotic syndrome manifesting in the first year of life. Methods : We retrospectively reviewed the clinical data with chart review in 7 patients who were diagnosed as nephrotic syndrome manifesting in the first year of life from 1996 to 2007. Results : Three patients had congenital nephrotic syndrome, the other 4 patients had infantile nephrotic syndrome. Their ages ranged from birth to 11 months and male to female ratio was 1 to 6. Renal biopsies were done in 6 patients. One patient had Finnish type congenital nephrotic syndrome, 2 patients had diffuse mesangial sclerosis, 2 patients had focal segmental glomerulosclerosis and 1 patient had minimal change disease. Genetic analyses of NPHS2, PLCE1, and WT1 were done in 4 patients and 2 of them had WT1 mutation. Among 3 patients with congenital nephrotic syndrome, 1 patient was diagnosed as congenital nephrotic syndrome of Finnish type and the other 2 patients were diagnosed as Denys-Drash syndrome. All of the patients with congenital nephrotic syndrome died due to sepsis. Among 4 patients with infantile nephrotic syndrome, 2 patients died and 1 had remission, another patient progressed to end stage renal disease. Conclusion : Most of nephrotic syndrome manifesting in the first year was hereditary renal disease. Patients with nephrotic syndrome manifesting in the 3 month of life had poorer prognosis and needed more aggressive management including early dialysis and renal transplantation might be considered compared with infantile nephrotic syndrome. Further genotype-phenotype correlation studies are needed.
Pre-harvest sprouting (PHS) refers to seed germination during ripening, due to loss of dormancy before harvest. As PHS in rice causes decrease in grain yield and quality, tolerance to PHS is an important trait of Japonica cultivars in Korea. It is important to investigate the related genes and environmental factors, because PHS is a quantitative trait. In this study, we examined PHS rates at three different times according to the cumulative daily mean temperature after heading (CTAH) for 5 rice cultivars released in Korea for 5 years from 2013 to 2017 to determine the effect of environmental factors on PHS. ABA content in ripening spikelets was analyzed to understand how it was related to PHS tolerance. PHS rate increased as CTAH increased from $800^{\circ}C$ to $1200^{\circ}C$. PHS rate was significantly different (p < 0.001) among the cultivars, showing Dasanbyeo, Jounbyeo, and Nampyeongbyeo to be PHS-tolerant, and Jopyeongbyeo and Gopumbyeo to be susceptible at all the CTAH of 800, 1000, and $1200^{\circ}C$. In 2015 and 2016, PHS rates were relatively higher, because of high temperature and frequent rainfall during the ripening period. In each cultivar, ABA content decreased as CTAH increased from $800^{\circ}C$ to $1200^{\circ}C$. However, there was no significant correlation between ABA content and PHS tolerance among the cultivars.
This study was conducted to investigate the basic concept of multiple trait effective daughter contribution (MTEDC) for dairy cattle sires and calculate effective daughter contribution (EDC) by applying a five lactation multiple trait model using milk yield test records of daughters for the Multiple-trait Across Country Evaluation (MACE). Milk yield data and pedigree information of 301,551 cows that were the progeny of 2,046 Korean and imported dairy bulls were collected from the National Agricultural Cooperative Federation and used in this study. For MTEDC approximation, the reliability of the breeding value was separated based on parents average, own yield deviation and mate adjusted progeny contribution. EDC was then calculated by lactation using these reliabilities. The average number of recorded daughters per sire by lactations were 140.57, 94.24, 55.14, 29.20 and 14.06 from the first to fifth lactation, respectively. However, the average EDC per sire by lactation using the five lactation multiple trait model was 113.49, 89.28, 73.56, 54.02 and 35.08 from the first to fifth lactation, respectively, while the decrease of EDC in late lactations was comparably lower than the average number of recorded daughters per sire. These findings indicate that the availability of daughters without late lactation records is increased by genetic correlation using the multiple trait model. Owing to the relatedness between the EDC and reliability of the estimated breeding value for sire, understanding the MTEDC algorithm and continuous monitoring of EDC is required for correct MACE application of the five lactation multiple trait model.
Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone (GH) therapy between these two PWS genotypes was analyzed. Methods : Fifty-three patients were diagnosed as having PWS based on molecular and cytogenetic analyses and clinical features. Data that included maternal age, birth weight, a feeding problem in the neonatal period, cryptorchidism, developmental delay or mental retardation, short stature, hypopigmentation, changes in height, weight, and body mass indexes (BMI) before and after GH treatment were obtained by a retrospective review of medical records. The data from the patients with microdeletion were compared with those from the patients with mUPD(15). Results : Of the 53 patients with genetically confirmed PWS, 39 cases had microdeletion and 14 mUPD(15). Maternal ages were significantly higher in the mUPD(15) group, and hypopigmentation and a feeding problem in the neonatal period were more frequent in the microdeletion group. Growth hormone was administered to 20 patients [14 with microdeletion, 6 with mUPD(15)]. There were no differences between the two groups in height velocity, weight and height SDS, and BMI after GH therapy. Conclusion : Phenotype and genotype correlations were observed in Korean PWS patients, such as more advanced maternal ages in the mUPD(15) group and more feeding problems and hypopigmentations in the microdeletion group. Further long-term prospective studies are needed to correlate other aspects of the phenotypes.
Data from live animal real time ultrasound (RTU) measures from 127 Hanwoo steers were used to assess nutritional physiology and relationship between RTU measures and real carcass measures represented meat quality. Traits considered were longissimus muscle area, fat thickness, and marbling score imaged and scanned using RTU by month and those of carcass measures at about 24 month of age. On this study, increasing pattern for longissimus muscle area would be closely related to growth pattern (p<0.01) and it of fat thickness would be related to quadratic effect of ages. Marbling score would be related to aging, that is, individual deviates of scores were distinctly characterized after 17 mo. even though they were started at about 11 mo. Correlation estimates between RTU measures and corresponding carcass traits were over 0.6 after 17 month of age for all traits considered and these estimates were high as 0.90 after 22 month of age. From this study, Real-time ultrasound measurement would be valuable after 15-17 mo. and measures at about 22 mo. would be helpful to decide age for slaughtering. To utilize these techniques for beef cattle breeding via progeny testing program, 15 mo. RTU measures would be efficiency rather than 12 mo. of other beef breeds. Further study to find genetic variation of RTU measures was needed to utilize these technologies for beef breeding.
Song Dong-Keun;Suh Yoo-Hun;Woo Jong-Inn;Shin Sang-Goo;Park Chan-Woong
The Korean Journal of Pharmacology
/
v.22
no.1
s.38
/
pp.60-70
/
1986
Distributions of serum dopamine-${\beta}$-hydroxylase(DBH) activity and thermostability in a randomly selected population of Korean adults were studied to investigate the genetic factor which could exert an influence on the serum DBH activity and thermostability. The results were followings: 1. The mean serum DBH activity in a randomly selected population of adults was $18.3{\pm}4.5$ umol/min/l($mean{\pm}SD;n=327$) which showed no age or sex variation. 2. The frequency distribution showed no isolated subgroup with very low serum DBH activity. 3. When the ratio of enzyme activity after heating $55^{\circ}C$ for 20 minutes to that before heating (heated-to-control or H/C ratio). was used as a measure of thermostability, the mean serum DBH H/C ratio in a randomly selecfld population, of adults was $0.90{\pm}0.17(mean{\pm}SD; n=327)$ which showed no age or sex variation. 4. Serum DBH H/C ratio showed unimodal, homogeneous distribution. 5. There was significant negative correlation between serum DBH activity and H/C ratio(r=-0.39. p<0.01). 6. Subjects with H/C ratio less than 0.1 had significantly higher basal enzyme activity $(22.2{\pm}4.5)$$(mean{\pm}SD;n=33)$ umo1/min/1 than those with H/C ratio more than 1.09 $(15.5{\pm}3.3)$$(mean{\pm}SD;n=32)$ umo1/min/1. This study shows that the distribution patterns of serum DBH activity and thermostability of Korean population are considerably different from those of Caucasian and it might be a line of evidence for the different inheritance pattern of plasma DBH enzyme between these racial groups.
Park, Hyun-A;Han, Ji-Sun;Kim, Chang-Gyun;Lee, Jin-Young
Journal of Korean Society of Environmental Engineers
/
v.28
no.2
/
pp.128-136
/
2006
This study was conducted for developing the stability parameter in uncontrolled landfill by using a biomolecular investigation on the microbial community growing through leachate plume. Landfill J(which is in Cheonan) and landfill T(which is in Wonju) were chosen for this study among a total of 244 closed uncontrolled landfills. It addressed the genetic diversity of the microbial community in the leachate by 165 rDNA gene cloning using PCR and compared quantitative analysis of denitrifiers and methanotrophs with the conventional water quality parameters. From the BLAST search, genes of 47.6% in landfill J, and 32.5% in landfill T, respectively, showed more than 97% of the similarity where Proteobacteria phylum was most significantly observed. It showed that the numbers of denitrification genes, i.e. nirS gene and cnorB gene in the J site are 7 and 4 times higher than those in T site, which is well reflecting from a difference of site closure showing 7 and 13 years after being closed, respectively. In addition, the quantitative analysis on methane formation gene showed that J1 spot immediately bordering with the sources has the greatest number of methane formation bacteria, and it was decreased rapidly according to distribute toward the outer boundary of landfill. The comparative investigation between the number of genes, i.e. nirS gene, cnorB gene and MCR gene, md the conventional monitoring parameters, i.e. TOC, $NH_3-N,\;NO_3-N,\;NO_2-N,\;Cl^-$, alkalinity, addressed that more than 99% of the correlation was observed except for the $NO_3-N$. It was concluded that biomolecular investigation was well consistent with the conventional monitoring parameters to interpret their influences and stability made by leachate plume formed in downgradient around the uncontrolled sites.
Park, Chan Young;Song, Seon Hwa;Sin, Jong Mu;Lee, Hyeon Young;Kim, Jin Baek;Shim, Sang In
Proceedings of the Korean Society of Crop Science Conference
/
2017.06a
/
pp.240-240
/
2017
Quinoa (Chenopodium quinoa Willd.) is one of the ancient crops cultivated in the Andes region at an altitude of 3,500-4000m in Chile and Bolivia from 5000 BC. It contains a large amount of protein, minerals and vitamins in comparison with other crops. The cultivation area has been increasing worldwide because of its excellent resistance to various abiotic stress such as salinity, drought and low temperature. ${\gamma}$-Ray radiation of high dose is often used as a tool to induce mutations in plant breeding, but it has a deleterious effect on organisms. However, the radiation may have a positive stimulatory effect of 'hormesis' in the low dose range. This experiment was carried out to investigate the optimum dose range for creating the quinoa genetic resources and to investigate the hormesis effect at low dose on the quinoa. This experiment was performed for 120 days from November, 2016 to February, 2017 in the greenhouse of Gyeongsang National University. ${\gamma}$-Ray radiation was irradiated to seeds at 0 Gy, 50 Gy, 100 Gy, 200 Gy, 300 Gy, 400 Gy, 600 Gy, 800 Gy and 1000 Gy for 8 hours. (50 Gy) using the low level radiation facility ($Co^{60}$) of Cooperative Research Institute of Radiation Research Institute, KAERI. Fifty seeds were placed on each petri dish lined with wet filter paper and germination rate was measured at a time interval of 2 hours for 40 hrs. The length of the root length was measured one week after germination. Each treatment was carried out in 3 replicates. The growth of seedlings were investigated for 10 days after transplanting of 30 day-old seedlings. The plant height, NDVI, SPAD, Fv/Fm, and panicle weight were measured. The germination rate was highest at 50Gy and 0Gy and the rate of seeds treated with 400Gy or higher rate decreased to 25% of the seeds treated with 50Gy. The emergence rate of seedling in pot experiment was higher at the dose of 200 Gy, 300 Gy and 400 Gy than at 0 and 50Gy. However, the rate was lower at strong radiation higher than 600Gy at which $1^{st}$ leaf was not expanded fully and dead due to extreme overgrowth at 44 days after treatment (DAT). The highest value of panicle weight was observed at 50Gy (6.15g) and 100Gy (5.57g). On the other hand, the weight at high irradiated dose of 300Gy and 400Gy was decreased by about 55% compared to low dose (50 Gy). NDVI measurement also showed the highest value at 50 Gy as the growth progressed. SPAD was the highest at 400 Gy and showed positive correlation with irradiation dose except 0 Gy. Fv/Fm was high at 50 Gy up to 30 DAT and no difference between treatments was observed except for 400 Gy from 44 DAT. The plant height was the highest in 50Gy during the growing period and was higher in the order of 50Dy, 100Gy, 0Gy, 200Gy, 300Gy and 400Gy in 88 DAT. In this experiment, the optimal radiation dose for hormesis was 50Gy and 100Gy, and the optimal radiation dose for mutagenesis seems to be 400 Gy.
Purpose: Henoch-Sch$\"{o}$nlein purpura (HSP) is a systemic vasculitis involving the skin, joints, gastrointestinal tract, and kidney. Although the pathogenesis of HSP is still unclear, tumor necrosis factor (TNF-${\alpha}$) is regarded as an important cytokine contributing to the disease. The goal of this study was to determine the role of TNF-${\alpha}$ in the pathogenesis of HSP, and to evaluate the TNF-${\alpha}$ polymorphism for genetic susceptibility to HSP. Methods: From March 2004 to November 2005, 40 children with HSP and 32 healthy controls were included. Serum TNF-${\alpha}$ levels were measured using the ELISA method during the acute and convalescent phase of HSP. The genotypic and allelic frequencies of the TNF-${\alpha}$ gene polymorphisms at positions -308 and -238 were evaluated in patients and controls. Results: Serum TNF-${\alpha}$ levels were $23.17{\pm}11.31$ pg/mL in the acute phase of children with HSP and $10.56{\pm}5.59$ pg/mL in the convalescent phase (p=0.000). There was no significant correlation between the serum TNF-${\alpha}$ levels and the clinical scores of HSP (r=0.310, p=0.070). The genotypic frequency of the TNF-${\alpha}$ -308 polymorphism in children with HSP was not significantly different compared to healthy controls (GG 80%, GA 20% vs. GG 93.8%, GA 6.2%; p=0.094). The genotypic frequency of the TNF-${\alpha}$ -238 polymorphism in children with HSP was not significantly different (GG 97.5%, GA 2.5% vs. GG 93.8%, GA 6.3%; p=0.429). Conclusion: TNF-${\alpha}$ is assumed to be the main cytokine associated with the pathogenesis of HSP during the acute phase. However, the presence of TNF-${\alpha}$ gene polymorphisms at positions -308 and -238 did not distinguish children with HSP from normal controls.
Thirty-eight Pea (Pisum sativum L.) genotypes were screened to identify varieties to be suitable for sprout. Based on seed yield and sprout qualities such as whole length and sprout yield, five genotypes (PI269803, PI343278, PI343283, PI343300 and PI 343307) were primarily selected as candidates for pea sprouts. In order to determine optimal cultivation condition for pea sprouting, growth characteristics were investigated according to the change of germination temperature and days for sprouting. Whole length and hypocotyl length were observed to increase as a time dependent manner at each tested temperature (20, 23, and $25^{\circ}C$). However, whole length, hypocotyl length, and sprout yield were highly increased at $23^{\circ}C$ compared to 20 and $25^{\circ}C$. Especially, PI269803 and PI343300 showed higher sprout yield than the others. In addition, the effect of the change of germination temperature on antioxidant properties was estimated by measuring total phenolic content (TPC) and free radical scavenging activity (DPPH and ABST activity). TPC and DPPH/ABST activities of PI269803 and PI343300 were higher at $23^{\circ}C$ than at 20 and $25^{\circ}C$, while antioxidant properties of PI343278 and PI343283 were decreased in a temperature-dependent manner. The results show a high degree of correlation between TPC and antioxidant activities and suggest that the temperature change for pea sprouting could be responsible for antioxidant properties. Taken together, these results provide optimal cultivation conditions for pea sprouting and suggest that PI269803 and PI343300 with high sprout yield and antioxidant properties could be used for pea sprouts.
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