Hearing loss is a common congenital disorder that is frequently associated with mutations in the Cx26 gene (GJB2). Recently, the mutation analysis of GJB2 has been used in a newborn screening test for the detection of hearing impairment. Population-based studies should be performed before the application of genetic testing for the identification of deaf newborns. In this study, 8 positions of GJB2 mutations-including 35delG, 167delT, 235delC, V27I, V37I, M34T, E114G, and I203T-were analyzed using PCR-direct sequencing in a total of 437 healthy Korean neonates. DNAs from dried blood spots were extracted using a commercial DNA extraction kit. The PCR-amplified products (783 bps) of the GJB2 gene were detected using 2% agarose gel electrophoresis and subjected to direct sequencing. The sequences were compared with those in the GenBank database by using the BLAST program. In this study, 5 GJB2 mutations -including V27I (79G>A), V37I (109G>A), E114G (341A>G), I203T (608T>C), and 235delC- were found. Of the 437 neonate samples, 301 subjects showed GJB2 mutations (68.9%, 301/437). The V27I mutation was found in 271 subjects and was the most frequent (62.0%, 271/437). The E114G, I203T and V37I mutations were shown in 146, 17 and 14 subjects, respectively. The 235delC mutation was found in 1 subject. The E114G mutation was frequently accompanied by the V27I mutation. V27I/E114G (97.2%, 143/147) was the most common double mutation and 3 subjects had the double mutation V27I/I203T. A triple mutation, V27I/E114G/I203T, was found in 1 subject. In conclusion, PCR-direct sequencing is a convenient tool for the rapid detection of GJB2 mutations and this data might provide information for the genetic counseling of the GJB2 gene.
Son, Sohee;Kang, Ji-Man;Kim, Jong Min;Sung, Sein;Kim, Yi-Seoul;Lee, Haejeong;Kim, BitA Reum;Lee, Yeon Kyoung;Ko, Sun Young;Shin, Son Moon;Kim, Yae-Jean
Pediatric Infection and Vaccine
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v.24
no.3
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pp.134-140
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2017
Purpose: Severe combined immunodeficiency (SCID) is the most serious form of primary immunodeficiency. Infants with SCID are susceptible to life-threatening infections. To establish newborn screening for SCID in Korea, we performed a screening test for T-cell receptor excision circle (TREC) and ${\kappa}$-deleting recombination excision circle (KREC) in neonates and investigated the awareness of SCID among their parents. Methods: Collections of dried blood spots from neonates and parent surveys were performed at the Samsung Medical Center and Cheil General Hospital & Women's Healthcare Center in Korea. The amplification crossing point (Cp) value <37.0 was defined as TREC/KRECpositive based on cutoff values from measuring multiplex real-time polymerase chain reaction. A Cp value >39.0 was defined as negative. Results: For TREC/KREC screening, 141 neonates were enrolled; 63 (44.7%) were male. One hundred forty neonates (99.3%) had positive TREC/KREC results at the time of the initial test; 82.3% and 75.9% were positive and 17.0% and 23.4% were weakly positive for TREC and KREC, respectively. In one neonate (0.7%), the initial TREC/KREC test result was negative. However, repeated tests obtained and confirmed a positive result. For an awareness survey, 168 parents were engaged. Only 2% of parents (3/168) knew that the newborn screening test for SCID had been introduced and performed in other countries. Eighty-four percent of parents (141/168) replied that nationwide newborn SCID screening should be performed in Korean newborns. Conclusions: In this study, newborn SCID screening was performed along with assessment of public awareness of the SCID test in Korea. The study results showed that newborn SCID screening can be readily applied for clinical use at a relatively low cost in Korea.
We investigated developmental stages of embryo and early life history of the Korean indigenous fish, the northern loach, Cobitis pacifica in 2009 in order to understand fundamental knowledges for conservation of this species. Eggs were obtained after hormones injections (LHRH-a, HCG) and were artificially fertilized by the dry method. The embryo was spherical, separative demersal, faint white, and averaged $1.09{\pm}0.04\;mm$ (n=20) in diameter. The hatching of the embryo took place in about 48 hours after fertilization under water temperature of $21.0{\sim}24.0^{\circ}C$ and the newly hatched larvae averaged $2.87{\pm}0.05\;mm$ (n=20) in total length (TL). Four days after hatching, the larvae grew up to $6.86{\pm}0.10\;mm$ (n=10) in TL and york sac absorption, mouth and anus opening were shown. Fourteen days after hatching, most of fin-rays appeared at $10.71{\pm}0.34\;mm$ (n=10) in TL and color spots on the body surface were attained. Twenty six days after hatching, the larvae grew up to $14.88{\pm}0.45\;mm$ (n=10) in TL, and all their fin-rays were formed. Therefore, according to current study regarding the morphological development of Cobitis pacidica, the conversion from larval to juvenile stages occurred at 26 days after hatching. Eighty days after hatching, the larvae were $33.3{\pm}1.25\;mm$ (n=10), and their body shape and color pattern were similar to adult fish. In this study, embryonic development and early life history of the northern loach, Cobitis pacifica show morphological characteristics of Cobitidae family. We expected that our results can be used as an fundamental knowledges for restoration study of indigenous fish species.
There are no population ecological research on the natural monument (No. 191) Jeju Cymbidium kanran in South Korea. In this study, we analyzed the population structure and fine-scale habitat affinity of C. kanran in Sanghyo-dong, Jejudo Island from Oct. 2013 to Feb. 2014. We observed total of 1,237 individuals (4,341 pseudobulbs) of C. kanran (989.6 population $ha^{-1}$) within (1.25 ha) and only 17 (1.4%) individuals were inflorescent. In 60.9% of the entire populations, disease symptoms such as spots and blight leaves were observed. C. kanran populaton exhibited reverse-J shaped size distribution based on leaf area classes as individual size parameter. The three size related attributes of C. kanran (no. of pseudobulb $r_s$=-0.159, no. of leaves $r_s$=-0.148 and leaf arera $r_s$=-0.114) and soil temperature revealed a negative relationship (p<0.0001). Most of C. kanran (95.4%) were grown under Castamopsis cuspidata and spatially, C. kanran were strongly clumped at all distances. Population characteristics of C. kanran in the study area were likely originated from species habitat affinity and successional environment. Through this study, base line data for C. kanran's habitat monitoring was established and conservation measures based on population characteristics were discussed.
To promote the aviation safety reporting system that is operated to enhance aviation safety and to utilize related information, it should first be preceded by standards for non-punishment and data protection. It is because the purpose of collection and analysis of aviation safety related data through the aviation safety reporting system is to prevent recurrence of accidents by investigating their causes through collection and analysis of diverse types of information related to aviation safety. Both mandatory and voluntary reporting systems are in operation for aviation safety under the current Aviation Safety Act. It is said that they were introduced to survey causes for accidents and to prevent recurrences. In fact, however, it is hard to expect active implementation of the reporting system for aviation safety unless the reporters are firstly exempted from punishment. Therefore, the system should be improved so that it can satisfy its purpose and the purposes of data collection concerning aviation safety through examination of the purposes of the reporting system. One of the matters that needs to be considered to promote the reporting system should be the scope of aviation safety hindrances presupposed under the current institution. The voluntary aviation safety reporting system differs from the systems of ICAO or the key advanced countries, including the USA and the UK as it limits the target accidents subject to reporting to minor aviation safety hindrances only. That being said, improvements should be made by requiring mandatory reporting of aviation safety hindrances based on their severity while recognizing a greater variety of aviation safety concerns like international standards. Safety actions and sharing of information based on collection and analysis of diverse data related to aviation safety will greatly contribute to enhance aviation safety as the purposes of the reporting system are to explore causes for accidents and to prevent their recurrences. What is most important in this regard is strict data protection and non-punishment principles; compliance with them should be secured. We can hardly expect the successful operation of the system unless the reporter is exempted from punishment and the relevant data is protected as promotion of voluntary reporting is an essential factor for enhancing the safety culture. Otherwise, the current system may induce hiding of relevant facts or data to evade punishment. It is true that the regulation for enhancing safety tends to have limitations or blind spots; nevertheless, it should still be enforced strictly and completely. Technological progresses and mistakes of operators appear in different forms based on individual cases. The consequential damages may amount to a truly severe level. Therefore, we have studied and suggested to the methods of activiation and amendments on the aviation safety reporting system, which is referred for one of the proactive safety management systems. The proposed improvement of the reporting system and introduction of non-punishment for collection of aviation safety data for deploying a preemptive prevention system would serve as the backbone for enhancing aviation safety in Korea.
Journal of the Korean Institute of Traditional Landscape Architecture
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v.38
no.1
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pp.103-114
/
2020
This study was conducted on Yuanming New Garden in China, which re-lighted the previously lost or damaged original space through representation from the perspective of creating traditional landscape. We looked at the composition of this place, the comparison of relevant literature and actual representation, and the characteristics of representation techniques. The results are as follows. First, TYuanming New Garden is a representation space with the motif of Yunamingyuan in Beijing. An advisory group of some 400 related experts discussed the prototype. The historicity of the real space was considered in the representation process. Second, New Yuanmingyuan garden was recreated based on the 'The Forty Scenic Views of Yuanmingyuan', and 31 of the scenic spots were created. The buildings in each precinct had a 1:1 scale response with structures that were previously constructed in Yuanmingyuan, Beijing. New Yuanmingyuan garden's way in which the main landscape is laid out around the Fuhai Lake(福海), which the landscape is drawn appeared was the same as Yuanmingyuan in Beijing. However, some of the facilities were reproduced on the basis of the 'The Forty Scenic Views of Yuanmingyuan', so they turned out to be different from what Yuanminyuan in Beijing looks like today. New Changchunyuan garden was represented around water landscape of the Western Mansins(Xiyang Lou, 西洋樓) area and the Haeakgaegum(海岳開襟), and the buildings and the facilities were reconstructed based on the 'Copper Print of Western Mansins'. Third, Yuanming New Garden made a prototype of the 'The Forty Scenic Views of Yuanmingyuan' and 'Copper Print of Western Mansins' during the process of synchronic changes in the garden. In addition, the original space and the ambiguous original space or exhibition space were clearly identified through the plant. On the other hand, due to the reenactment of buildings, the spatial composition and placeability of the original spaces of Yuanmingyuan garden and Changchunyuan garden in Beijing were not inherited, and the introduction of elements that did not match traditional landscaping spaces, and the introduction of garden elements that were not prototype and other variations for the use of tourism were found to be drawback.
Park, Dae-Sup;Lee, Hyung-Seok;Hong, Beom-Seok;Choi, Byoung-Man;Cheon, Jae-Chan
Asian Journal of Turfgrass Science
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v.22
no.2
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pp.161-170
/
2008
Recently irregular dark-colored patches were found on the Kentucky teeing ground in a golf course in Gyunggi providence. Interestingly, blue-green algae from the leaf tissue sample containing black spot-stained symptoms were largely observed through microscopic study. In general, algae present on the upper soil surface or in the upper layer of root zone form dark brown layers of scum or crust, which invoked harmful effects to turf growth such as poor drainage, inhibition of new root development. In this observation, unlike the algae were sometime found in senescing leaves on contacted soil in July and August, the blue-green algae were detected within black spot-stained Kentucky bluegrass leaf tissues including leaf blade, ligule, auriclea as well as leaf sheath. The blue-green algae were also detected on the leaf and stem tissue adjacent to the symptomatic leaf tissues. Two species of blue-green algae, Phomidium and Oscillatoria, were greatly observed. Oscillatoria species was more commonly notified in all samples. In addition, the two species were found on a putting green showing yellow spot disease at another golf course in Gyunggi providence. The data from chemical control assay revealed that chemicals such as propiconazole, iprodione, and azoxystrobin decreased blue-green algae population and leaf spots, which finally resulted in enhanced leaf quality. All taken together, we strongly suggested that the disease-like phenomenon by blue-green algae might be very closely mediated with infection/translocation process in relation with turfgrass. It indicates that blue-green algae in turf management may play an adverse role as a secondary barrier as well as a pathogenic agent. This report may be helpful for superintendents to recognize and understand the fact that algae control should be provided more cautiously and seriously than we did previously in upcoming golf course management.
Yun, Min Heon;Jeong, Hae-Ryong;Yoo, Jang-Hwan;Roy, Swapan Kumar;Kwon, Soo-Jeong;Kim, Joo-Ho;Chun, Hyen Chung;Jung, Ki Yuol;Cho, Seong-Woo;Woo, Sun-Hee
Korean Journal of Plant Resources
/
v.31
no.2
/
pp.124-135
/
2018
The study was performed to explore the molecular changes in the vegetative stage (3-and 5-leaf) of sorghum under waterlogging stress. A total of 74 differentially expressed protein spots were analyzed using LTQ-FT-ICR MS. Among them, 12 proteins were up-regulated and 3 proteins were down-regulated. Mass spectrometry (MS) results showed that about 50% of the proteins involved in various metabolic processes. The level of protein expression of malate dehydrogenase and glyceraldehyde-3-phosphate dehydrogenase related to carbohydrate metabolic process increased in both 3 and 5-leaf stage under waterlogging stress. These proteins are known to function as antistress agents against waterlogging stress. The expression of oxygen-evolving enhancer protein 1 protein related to photosynthesis was slightly increased in the treated group than in the control group, however the expression level was increased in the 5-leaf stage compared to the 3-leaf stage. Probable phospholipid hydroperoxide glutathione peroxidase protein and superoxide dismutase protein related to response to oxidative stress showed the highest expression level in 5-leaf stage treatment. This suggests that the production of reactive oxygen species by the waterlogging stress was the most abundant in the 5-leaf treatment group, and the expression of the antioxidant defense protein was increased.
Rapid urbanization has elevated the risk of urban flooding due to the increase in the impervious surface, causing environmental disasters and environmental pollution problems, such as lowering the groundwater level and increasing water pollution. In Korea, low impact development (LID) techniques have been introduced to minimize these environmental impacts and maintain the water cycle soundness. However, most small-scale development projects are in blind spots because there is no legal basis for rainfall runoff management. Small-scale development projects that increase the surface runoff of rainwater are required to mandate the application of LID facilities in accordance with the polluters' responsibility principle. Therefore, it is necessary to implement a preliminary consultation system for water cycle recovery. This study focuses on the cost-benefit analysis on the application of LID techniques for small-scale development projects. The scale of nationwide small-scale development projects used for cost-benefit analysis were defined as buildings with a land area of more than 1,000 ㎡ or a total floor area of 1,500 ㎡. As a result of analyzing the cost-benefits from the installation of LID facilities, they were found to be much lower than the economic standard value of 1. This might be due to the high cost of facilities compared to the scale of the project. However, considering the overall environmental value of improving the water environment and air quality by the installation of LID facilities and the publicity of reducing the operating cost of sewage treatment facilities, the introduction of a prior consultation for small-scale development projects is inevitable. In the future, institutional and financial support from local governments is required to improve the cost-benefits with the introduction of a prior consultation for small-scale development projects.
Journal of the Korean Institute of Landscape Architecture
/
v.45
no.1
/
pp.105-116
/
2017
Murals in villages revitalize communities and spaces, and are economically efficient. Central and local governments are therefore actively undertaking Mural Village Projects but there are some issues and concerns about the projects for the provision of uniformed landscapes for the regions that are the result of a short-term completion of projects, and instead of cohesion, cause destruction of place identities. In addition, the problem of sustainable landscape management that is the result of low community involvement can be pointed out because the murals are products of government-led projects. The study covered the context of landscape and space change processes from a critical perspective, and focused on Ihwa-dong Mural Village, which is considered the first mural village in Korea and has begun to undergo drastic changes due to attention received from media. The purposes of this study are as follows. First, the study provides data about difference of place identity perception and landscape preference between residents and tourists in Ihwa-dong Mural Village. Second, this paper evaluates the current Mural Village Projects and finds alternative directions to improve the projects by using these data. This paper analyzed tourist hot spots in Ihwa-dong Mural Village by using SNS analysis, a field study and focus group interviews. The difference of place identity perception and landscape preference was examined among three groups: residents, new residents who are invited by Mural Village Projects, and tourists. This study showed that many tourists are focused on landscape areas that were not intentionally constructed projects. In addition, the locations of preferred landscapes and stores overlapped. Meanwhile, using qualitative data analysis, it was found that residents perceived the area as being an under-privileged location, while the murals, a non-daily landscape, largely affected place identity perception of new residents and tourists. For landscape preference, tourists preferred outdoor rest areas, while new residents and residents preferred less. Additionally, new residents and tourists preferred an area's night view while residents made no mention of this. Related to the direction of the projects, three groups showed their dependence on the government. This empirical study is significant from a participatory design perspective and in analyzing the issues for mural villages' landscapes, which are spreading across the nation and proceeding without criticism in urban regeneration. Implications for urban planners and suggestions for the future projects are given.
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