• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.1
• /
• pp.1-9
• /
• 2016

Newborn screening (NBS) is important if early intervention is effective in a disorder and if there are sensitive and specific biochemical markers to detect disorder. Methionine is a useful marker to detect abnormal methionine-homocysteine metabolism, especially homocystinuria which needs urgent medical intervention. However, hypermethioninemia could occur in other metabolic disorder including liver disease, tyrosinemia type I, methionine adenosyltransferase (MAT) I/III deficiency, glycine N-methyltransferase (GNMT) deficiency, or adenosylhomocysteine hydrolase deficiency. However, experience with NBS for homocystinurias and methylation disorders is limited. Especially, MAT I/III deficiency which is the most common cause of persistent hypermethioninemia have two inheritance, autosomal recessive (AR) and autosomal dominant (AD), and their clinical manifestation is different between AR and AD. Here, author reviewed recent articles of guideline and proposed guideline for homocystinuria and methylation disorder.

• Journal of the Korean Wood Science and Technology
• /
• v.40 no.6
• /
• pp.370-377
• /
• 2012

This study was conducted to investigate the color change of heat-treated wood made of Korean pine (Pinus koraiensis S. et Z.), and lodgepole pine (Pinus contorta Dougl). The wood samples were heat-treated at 9 different treatment combinations of temperature (170, 180, 200, 220, and $230^{\circ}C$), and time (90, 120, 180, 240, 270 min.) set up by a response surface method. Wood color was measured using a colorimeter, and the samples were installed for evaluating the resistance of termite in the field test sites set up in Jinju. The lightness decreased with the increase of treatment temperature and treatment time. The color differences were evaluated by the method of National Bureau of Standards (NBS), and response surface models to predict the color change were fitted as a function of treatment temperature and treatment time. The $R^2$ values of the fitted models of heat-treated Korean pine and lodgepole pines were 0.92, and 0.88, respectively, showing the potential way for the prediction of color changes. Severe damage was found from the samples in the field test site, which means that the manufactured heat-treated wood did not show the termite resistance enough for the outdoor use.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.12 no.1
• /
• pp.58-63
• /
• 2012

Classical galactosemia (OMIM# 230400) is an autosomal recessive disorder of carbohydrate metabolism, due to a complete loss in galactose-1-phosphate uridyltransferase (GALT; E.C.2.7.7.12) enzyme activity. It caused by mutations in the GALT gene (OMIM$^*$ 606999) that is located at chromosome 9p13. The GALT enzyme deficiency results in a build-up of galactose and galactose-1-phosphate, causing life threatening complications such as feeding problems, failure to thrive, hepatocellular damage, bleeding and sepsis. However, Duarte galactosemia, a variant form of GALT deficiency, has residual GALT enzyme activities in erythrocytes and do not have manifest the symptoms of classical galactosemia. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. The positive NBS with no symptoms indicates the possibility of Duarte galactosemia besides a simple false positive and it has to be differentiated from classical galactosemia which is a medical emergency. In Korea, detection rate of Duarte galactosemia is very low and its genetic information is restrictive, too. We report a case of monozygotic twins with D/G galactosemia compound heterozygote in proven by the mutational analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

• Journal of fish pathology
• /
• v.30 no.1
• /
• pp.41-49
• /
• 2017

Probiotic principles can be applied in aquaculture for the purpose of growth and immunity stimulation, disease prevention and eventually better production performance. This study was to assess effects of combinations of microbes containing two Bacillus sp., plus one Lactobacillus sp. as the basal preparation (BSL-LAB), and additional Nitrosomonas sp. (nitrifying bacteria consortium, NBS) in olive flounder (Paralichthys olivaceus). The effects examined were growth parameters, hematologic parameters, innate immunity and pathogen challenge test. Fish were assigned to 4 treatments as Control (no probiotics), Group A (Bacillius and Lactobacillus to culture water), Group B (Bacillius and Lactobacillus both in water and feed), Group C (same as Group B with additional Nitrosomonas in feed). Fish were allocated to the above 4 groups, each group being composed of triplicate 30 fish, for a 7-week feeding in the laboratory. Positive effects were observed both in growth and pathogen sensitivity with all three probiotic combinations. Such effects were attributed to improved innate immune functions. This result indicates that the tested probiotic microbes are beneficial to olive flounder aquaculture.

• Journal of the Korea institute for structural maintenance and inspection
• /
• v.18 no.4
• /
• pp.41-49
• /
• 2014

In this study, experimental research was carried out to evaluate the structural performance of the reinforced concrete beam using hybrid retrofitting with two materials (groove and embedding FRP rod, CFRP sheet) in existing reinforced concrete buildings. Seven reinforced concrete beams, retrofitted groove and embedding FRP rod (NER series) and groove and embedding FRP rod with CFRP sheet (NERL series), and standard specimen (NBS) were constructed and tested under monotonic loading. Design parameters of test specimens are the amount of groove and embedding FRP rod and lapping CFRP sheet. Test results showed that the maximum load carrying capacity of specimens with groove and embedding FRP rod and groove and embedding FRP rod with CFRP sheet (NERL series) were increased the by 12~46% and 22~77% respectively in comparison with the standard specimen NBS. Test specimens NER series were failed with the adhesion slip and concrete cover separation. And test specimens NERL series were failed with the adhesion slip due to the confining effect of lapping CFRP sheet.

• Journal of the Korean earth science society
• /
• v.42 no.1
• /
• pp.1-10
• /
• 2021

Silicon (Si) is the second most abundant element in the crust and consists of three stable isotopes, 28Si (92.23%), 29Si (4.67%), and 30Si (3.10%). Si isotopes are widely studied worldwide as a proxy for the biogeochemical cycle of Si to reconstruct the paleoenvironment and paleoclimate. However, in Korea, there have been no studies on biogenic silica using Si isotopes. In this study, we carried out Si isotope measurements of giant diatoms, summarizing the previously reported alkali fusion methods and establishing the best Si separation method for biogenic silica. Samples were completely digested using alkali fusion at high temperatures, effectively separating Si using an AG® 50W-X8 cation exchange resin. To evaluate the precision and accuracy of our measurements, Si isotope standard material (NBS-28) and USGS reference materials (AGV-2, GSP-2, BHVO-2) were analyzed. The results are in excellent agreement with the reported values within the acceptable error. The Si isotope measurement method developed in this study is expected to help in understanding the paleoclimate and paleoenvironment by tracing the Si cycle.

• KSCE Journal of Civil and Environmental Engineering Research
• /
• v.42 no.5
• /
• pp.651-658
• /
• 2022

To cope with climate change, studies are being conducted on natural-based solutions (NBS) that reduce carbon by utilizing ecosystems and ecological resources ultimately to achieve carbon neutrality. In this study, carbon storage and economic value evaluations were conducted of the coastal land and sea of Busan using InVEST's Carbon and Coastal Blue Carbon models, which are ecosystem service-based evaluation models. As a result, it is estimated that the amount of carbon storage per unit area is lower than that of the entire Busan land area and that if the currently underway or planned development works are completed, the carbon storage of the coastal land areas would be decreased more. Coastal sea areas have less carbon storage than coastal land, but there is great potential for NBS that utilize ecological resources in the future. If the reclamation of public water affects important habitats with high carbon storage levels, it will reduce these levels, and such negative effects could last for a long time. For the sustainable management of Busan coastal areas, ecosystem service-based management strategies are needed considering carbon storage.

• Proceedings of the Plant Resources Society of Korea Conference
• /
• 2022.09a
• /
• pp.36-36
• /
• 2022

The molecular understanding of resistance and susceptibility of host plants to scab, a most threatful disease to pome fruit production worldwide, is very limited. Comparing resistant line '93-3-98' to susceptible one 'Sweet Skin' at seven time points of 0, 0.5, 1, 2, 3, 4, 8 days post inoculation, RNA-sequencing data derived from infected and mock-inoculated young leaves were analyzed to evaluate the tolerant response and to mine candidate genes of pear to the scab pathogen Venturia nashicola. Analysis of the mapped reads showed that the infection of V. nashicola led to significant differential expression of 17,827 transcripts with more than 3-fold change in the seven pairs of libraries, of which 9,672 (54%) are up- and 8,155(46%) are down-regulated. These included mainly receptor (NB-ARC domains-containing, CC-NBS-LRR, TIR-NBS-LRR, seven transmembrane MLO family protein) and transcription factor (ethylene responsive element binding, WRKY DNA-binding protein) related gene. An arsenal of defense response of highly resistant pear accessions derived from European pear was probably supposed no sooner had V. nashicola infected its host than host genes related to disease suppression like Polyketide cyclase/dehydrase and lipid transport protein, WRKY family transcription factor, lectin protein kinase, cystein-rich RLK, calcium-dependent phospholipid-binding copine protein were greatly boosted and eradicated cascade reaction induced by pathogen within 24 hours. To identify transcripts specifically expressed in response to V. nashicola, RT-PCRs were conducted and compare to the expression patterns of seven cultivars with a range of highly resistant to highly susceptible symptom. A DEG belonging to the PR protein family genes that were higher expressed in response to V. nashicola suggesting extraordinary role in the resistance response were led to the identification. This study provides the first transcriptional profile by RNA-seq of the host plant during scab disease and insights into the response of tolerant pear plants to V. nashicola.

• The Journal of Korean Institute of Communications and Information Sciences
• /
• v.35 no.7B
• /
• pp.991-1000
• /
• 2010

The Hierarchical Mobile IPv6 (HMIPv6) has been proposed to accommodate frequent mobility of the Mobile Node. HMIPv6 can effectively reduce the signaling overhead and latency. However, it has a problem that the registration of a mobile node concentrates on the furthest MAP(Mobility Anchor Point) when the mobile node enters into a new domain. This paper proposes a new load distribution mechanism by using the concept of Nash Bargaining Solution. The main advantage of the proposed scheme can prevent load concentration from being registered to the specified MAP based on the weight value according to the available resource-ratio of a MAP. With a simulation study, the proposed scheme can improve network performance under widely diverse traffic load intensities.

• Biotechnology and Bioprocess Engineering:BBE
• /
• v.10 no.3
• /
• pp.180-185
• /
• 2005

Cytosine deaminase (cytosine aminohydrolase, EC 3.5.4.1) stoichiometrically catalyzes the hydrolytic deamination of cytosine and 5-fluorocytosine to uracil and 5-fluorouracil, respectively. Amino acid residues located in or near the active sites of the intracellular cytosine deaminase from chromobacterium violaceum YK 391 were identified by chemical modification studies. The enzymic activity was completely inhibited by chemical modifiers, such as 1mM NBS, chloramine-T, $\rho-CMB,\;\rho-HMB$ and iodine, and was strongly inhibited by 1mM PMSF and pyridoxal 5'-phosphate. This chemical deactivation of the enzymic activity was reversed by a high concentration of cytosine. Furthermore, the deactivation of the enzymic activity by $\rho-CMB$ was also reversed by 1mM cysteine-HCI, DTT and 2-mercaptoethanol. These results suggested that cysteine, tryptophan and methionine residues might be located in or near the active sites of the enzyme, while serine and lysine were indirectly involved in the enzymic activity. The intracellular cytosine deaminase from C violaceum YK 391 was assumed to be a thiol enzyme.