• Journal of the Korean Geotechnical Society
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• v.19 no.6
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• pp.71-84
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• 2003

The metallic shell of soil-steel structures are so weak in bending moment that it should sustain the applied load by the interaction of the backfill soil around the structures. The shell can be subjected to excessive bending moment during side backfilling or under live-load when the soil cover is less than the minimum value. The current design code specifies the allowable deformation and Duncan(1979) and McGrath et al.(2001) suggested the strength analysis methods to limit the moments by the plastic capacity of the shell. However, the allowable deformation is an empirically determined value and the strength analysis methods are based on the results of FE analysis, hence the experimental verification is necessary. In this study, the full-scale tests were conducted on the high-profile arch to investigate its behaviors during backfilling and under static live-loads. Based on the measurements, the allowable deformation of the tested structure could be estimated to be 1.45% of rise, which is smaller than the specified allowable deformation. The comparison between the measurements and the results of two strength analyses indicate that Duncan underestimates the earth-load moment and overestimates the live-load moment, while McGrath et al. predicts both values close to the actual values. However, as the predicted factors of safeties using two methods coincide with the actual factor of safety, it can be concluded that both methods can predict the structural stability under live-loads adequately when the cover is less than the minimum.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.15-20
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• 2008

Purpose : Large exon deletions in the DMD gene are found in about 60% of DMD/BMD patients. Multiplex PCR has been employed to detect the deletion mutation, which frequently generates noise PCR products due to the presence of multiple primers in a single reaction as well as the stringency of PCR conditions. This often leads to a false-negative or false-positive result. To address this problematic issue, we introduced the dual primer oligonucleotide (DPO) system. DPO contains two separate priming regions joined by a polydeoxyinosine linker that results in high PCR specificity even under suboptimal PCR conditions. Methods : We tested 50 healthy male controls, 50 patients with deletion mutation as deletion-positive patient controls, and 20 patients with no deletions as deletion-negative patient controls using DPO-multiplex PCR. Both the presence and extent of deletion were verified by simplex PCR spanning the promoter region (PM) and 18 exons including exons 3, 4, 6, 8, 12, 13, 17, 19, 43-48, 50-52, and 60 in all 120 controls. Results : DPO-multiplex PCR showed 100% sensitivity and specificity for the detection a deletion. However, it showed 97.1% sensitivity and 100% specificity for determining the extent of deletions. Conclusion : The DPO-multiplex PCR method is a useful molecular test to detect large deletions of DMD for the diagnosis of patients with DMD/BMD because it is easy to perform, fast, and cost-effective and has excellent sensitivity and specificity.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.420-427
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• 2010

Purpose : Several complications can occur in patients who received bone marrow transplantation (BMT) during childhood and adolescence. This study aims to investigate endocrine dysfunctions after BMT so that better care can be provided to care for long-term survivors of BMT. Methods : One hundred patients (61 males, 39 females) were included in this study. Clinical parameters such as initial diagnosis, age at BMT, conditioning regimen, presence of graft-versus-host disease (GVHD), growth pattern, thyroid function, and pubertal status were retrospectively reviewed to evaluate risk factors associated with endocrine dysfunction. Results : Height standard deviation score (SDS) at BMT, after 1 year of BMT, and at the last visit were $0.08{\pm}1.04$, $-0.09{\pm}1.02$, and $-0.27{\pm}1.18$, respectively (P =0.001). Height SDS significantly decreased in patients who received total body irradiation (TBI) (P =0.017). One of the patients who received TBI demonstrated growth hormone deficiency. Thirty (31.9%) of 94 patients had compensated hypothyroidism. Incidence of compensated hypothyroidism was higher among those who had GVHD (odds ratio 2.82, P =0.025). Of the 32 patients (17 males, 15 females) who were over 14 years in male and 13 years in female at the last visit, 16 (3 males, 13 females) had increased luteinizing hormone (LH) or follicle-stimulating hormone (FSH). Abnormal elevation of LH or FSH was more common in females (odds ratio 30.3, P =0.001). Conclusion : The most common endocrine dysfunction was ovarian insufficiency. Regular check-up for endocrine function needs to be required due to high incidence of endocrine dysfunction in patients with BMT.

• Korean Journal of Biological Psychiatry
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• v.13 no.4
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• pp.289-298
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• 2006

Objectives : Autism is a complex neurodevelopmental spectrum disorder with a strong genetic component. Previous neurochemical and genetic studies suggested the possible involvement of glutamate N-methyl-D-aspartate(NMDA) receptor in autism. The aim of study was to investigate the association between the NMDA2B receptor gene(GRIN2B) and autism spectrum disorders(ASD) in the Korean population. Methods : The patients with ASD were diagnosed with Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule based on DSM-IV diagnostic classification. The present study was conducted with the detection of four single nucleotide polymorphisms(SNPs) in GRIK2 and family-based association analysis of the single nucleotide polymorphisms in Korean ASD trios using transmission disequilibrium test (TDT). Results : One hundred twenty six patients with ASD and their biological parents were analyzed. 86.5% were male and 85.1% were diagnosed as autistic disorder. The mean age was $71.9{\pm}31.6$ months(range : 26-185 months). We found that rs1805247 showed significantly preferential transmission(TDT ${\chi}^2$=12.8, p<0.001) in ASD. Conclusion : One SNP in GRIN2B gene was significantly associated with ASD in the Korean population. This result suggests the possible involvement of glutamate NMDA receptor gene in the development of ASD.

• Geophysics and Geophysical Exploration
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• v.21 no.3
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• pp.150-161
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• 2018

Recently, unmanned aircraft EM (electromagnetic) survey based on ICT (Information and Communication Technology) has been widely utilized because of the efficiency in regional survey. We performed the theoretical study on the unmanned airship EM system developed by KIGAM (Korea Institute of Geoscience and Mineral resources) as part of the practical application of unmanned aircraft EM survey. Since this system has different configurations of transmitting and receiving loops compared to the conventional aircraft EM systems, a new technique is required for the appropriate interpretation of measured responses. Therefore, we proposed a method to calculate the EM field for the arbitrary shaped transmitter and verified its validity through the comparison with analytic solution for circular loop. In addition, to simulate the magnetic responses by three-dimensionally (3D) distributed anomalies, we have adapted our algorithm to 3D frequency-domain EM modeling algorithm based on the edge-FEM (finite element method). Though the analysis on magnetic field responses from a subsurface anomaly, it was found that the response decreases as the depth of the anomaly increases or the flight altitude increases. Also, it was confirmed that the response became smaller as the resistivity of the anomaly increases. However, a nonlinear trend of the out-of-phase component is shown depending on the depth of the anomaly and the used frequency, that makes it difficult to apply simple analysis based on the mapping of the magnitude of the responses and can cause the non-uniqueness problem in calculating the apparent resistivity. Thus, it is a prerequisite to analyze the appropriate frequency band and flight altitude considering the purpose of the survey and the site conditions when conducting a survey using the unmanned aircraft EM system.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.119-124
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• 2011

Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.

• Korean Journal of Breeding Science
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• v.40 no.3
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• pp.318-323
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• 2008

Nokwon, a new cultivar for vegetable soybean, was developed from the cross between Keunolkong and Hyangnam-1 and released in 2006. The pedigree of Nokwon, designated as Milyang 153 in 2003, was SS96425-2B-11-4-1-1-1. Nokwon, used as a vegetable soybean was characterized by dark green pod, large seed, very short plant height, and lodging resistance. Nokwon has determinate growth habit, white flowers, gray pubescence, oval leaf shape and brown pods at maturity. The mature seeds have a greenish yellow seed coat with brown hilum and yellow cotyledon. In Korea, Regional Yield Trials (RYT) for vegetable soybean from 2004 to 2006, Nokwon shows strong tolerance to soybean mosaic virus and lodging in fields. Fresh pods of Nokwon harvested at the beginning of August, and stem height was 11cm shorter than 45 cm of Hwaeomputkong. In the same tests, fresh pod of Nokwon (11.4 ton/ha) yielded 14% higher than Hwaeomputkong (10.0 ton/ha). Nokwon had 5.9 cm fresh pod length, 13.1 mm fresh pod width, 75.4 g seed weight per 100 green seed, 39.4% green seed protein content, and 17.3% green seed oil content.

• The Journal of Engineering Geology
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• v.29 no.2
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• pp.85-97
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• 2019

It can be observed that steep slopes ($65^{\circ}$ to $80^{\circ}$) consist of rock masses were kept stable for a long time. In rock-mass slopes with similar ground condition, steeper slopes than 1 : 0.5 ($63^{\circ}$) may be applied if the discontinuities of rock-mass slope are distributed in a direction favorable to the stability of the slope. In making a decision the angle of the slope, if the preliminary rock mass conditions applicable to steep slope are quantitatively setup, they may be used as guidance in design practice. In this study, the above rock mass was defined as a good continuum rock mass and the quantitative setup criterion range was proposed using RMR, SMR and GSI classifications for the purpose of providing engineering standard for good continuum rock mass conditions. The methods of study are as follows. The stable slope at steep slopes ($65^{\circ}$ to $80^{\circ}$) for each rock type was selected as the study area, and RMR, SMR and GSI were classified to reflect the face mapping results. The results were reviewed by applying the calculated shear strength to the stable analysis of the current state of rock mass slope using the Hoek-Brown failure criterion. It is intended to verify the validity of the preliminary criterion as a rock mass condition that remains stable on a steep slope. Based on the analysis and review by the above research method, it was analyzed that a good continuum rock mass slope can be set to Basic RMR ${\geq}50$ (45 in sedimentary rock), GSI and SMR ${\geq}45$. The safety factor of the LEM is between Fs = 14.08 and 67.50 (average 32.9), and the displacement of the FEM is 0.13 to 0.64 mm (average 0.27 mm). This can be seen as a result of quantitative representation and verification of the stability of a good continuum rock mass slope that has been maintained stable for a long period of time with steep slopes ($65^{\circ}$ to $80^{\circ}$). The setup guideline for a good continuum rock mass slope will be able to establish a more detailed setup standard when the data are accumulated, and it is also a further study project. If stable even on steep slopes of 1 : 0.1 to 0.3, the upper limit of steep slopes is 1 : 0.3 with reference to the overseas design standards and report, thus giving the benefit of ensuring economic and eco-friendlyness. Also, the development of excavation technology and plantation technology and various eco-friendly slope design techniques will help overcome psychological anxiety and rapid weathering and relaxation due to steep slope construction.

• Journal of the Korean Geotechnical Society
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• v.39 no.5
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• pp.51-63
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• 2023

Numerical analysis was conducted to determine the effect of soil behavior by thawing and freezing of seasonal frozen soil on pile foundations. The analysis was performed using the finite element method (FEM) to simulate soil-pile interaction based on the atmosphere temperature change. Thermomechanical coupled modeling using FEM was applied with the temperature-dependent nonlinear properties of the frozen soil. The analysis model cases were applied to the MCR and HDP models to simulate the elastoplastic behavior of soil. The numerical analysis results were analyzed and compared with various conditions having different length and width sizes of the pile. The results of the numerical analysis showed t hat t he HDP model was relat ively passive, and t he aspect and magnit ude of t he bearing capacit y and displacement of the pile head were similar depending on the length and width of the pile conditions. The vertical displacement of the pile head by thawing and freezing of the ground showed a large variation in displacement for shorter length conditions. In the MCR model, the vertical displacement appeared in the maximum thaw settlement and frost heaving of 0.0387 and 0.0277 m, respectively. In the HDP model, the vertical displacement appeared in the maximum thaw settlement and frost heaving of 0.0367 and 0.0264 m, respectively. The results of the pile bearing capacity for the two elastoplastic models showed a larger difference in the width condition than the length condition of the pile, with a maximum of about 14.7% for the width L condition, a maximum of about 5.4% for M condition, and a maximum of about 5.3% for S condition. The significance of the effect on the displacement of the pile head and the bearing capacity depended on the pile-soil contact area, and the difference depended on the presence or absence of an active layer in the soil and its thickness.