• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.403-406
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• 2018

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

• 한국지구물리탐사학회:학술대회논문집
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• 2005.09a
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• pp.125-153
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• 2005

It has been widely known that the seismic piezo-cone penetration test (SCPTU) is one of the most useful techniques for investigating the geotechnical characteristics including dynamic soil properties. As the practical applications in Korea, SCPTU was carried out at two sites in Busan and four sites in Incheon, which are mainly composed of alluvial or marine soil deposits. From the SCPTU waveform data obtained from the testing sites, the first arrival times of shear waves were and the corresponding time differences with depth were determined using the cross-over method, and the shear wave velocity profiles (VS) were derived based on the refracted ray path method based on Snell's law and similar to the trend of cone tip resistance (qt) profiles. In Incheon area, the testing depths of SCPTU were deeper than those of conventional down-hole seismic tests. Moreover, for the application of the conventional CPTU to earthquake engineering practices, the correlations between VS and CPTU data were deduced based on the SCPTU results. For the empirical evaluation of VS for all soils together with clays and sands which are classified unambiguously in this study by the soil behavior type classification Index (IC), the authors suggested the VS-CPTU data correlations expressed as a function of four parameters, qt, fs, $\sigma$, v0 and Bq, determined by multiple statistical regression modeling. Despite the incompatible strain levels of the down-hole seismic test during SCPTU and the conventional CPTU, it is shown that the VS-CPTU data correlations for all soils clays and sands suggested in this study is applicable to the preliminary estimation of VS for the Korean deposits and is more reliable than the previous correlations proposed by other researchers.

• Journal of the Korea institute for structural maintenance and inspection
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• v.24 no.2
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• pp.23-32
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• 2020

The compression sensing technology, CAFB, was developed to obtain the raw signal of the target structure by compressing it into a signal of the intended frequency range. At this point, for compression sensing, the CAFB can be optimized for various reference signals depending on the desired frequency range of the target structure. In addition, optimized CAFB should be able to efficiently compress the effective structural answers of the target structure even in sudden/dangerous conditions such as earthquakes. In this paper, the targeted frequency range for efficient structural integrity monitoring of relatively flexible structures was set below 10Hz, and the optimization method of CAFB for this purpose and the seismic response performance of CAFB in seismic conditions were evaluated experimentally. To this end, in this paper, CAFB was first optimized using Kobe seismic waveform, and embedded it in its own wireless IDAQ system. In addition, seismic response tests were conducted on two span bridges using Kobe seismic waveform. Finally, using an IDAQ system with built-in CAFB, the seismic response of the two-span bridge was wirelessly obtained, and the compression signal obtained was cross-referenced with the raw signal. From the results of the experiment, the compression signal showed excellent response performance and data compression effects in relation to the raw signal, and CAFB was able to effectively compress and sensitize the effective structural response of the structure even in seismic situations. Finally, in this paper, the optimization method of CAFB was presented to suit the intended frequency range (less than 10Hz), and CAFB proved to be an economical and efficient data compression sensing technology for instrumentation-monitoring of seismic conditions.

• Journal of Korea Water Resources Association
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• v.55 no.12
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• pp.1041-1052
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• 2022

This study is to estimate the optimal ecological flow and analysis the spatial distribution of fish habitat for Andong dam downstream reach (4,565.7 km²) using PHABSIM (Physical Habiat Simulation System) and River2D. To establish habitat models, the cross-section informations and hydraulic input data were collected uisng the Nakdong river basic plan report. The establishment range of PHABSIM was set up about 410.0 m from Gudam streamflow gauging station (GD) and about 6.0 km including GD for River2D. To select representative fish species and construct HSI (Habitat Suitability Index), the fish survey was performed at Pungji bridge where showed well the physical characteristics of target stream located downstream of GD. As a result of the fish survey, Zacco platypus was showed highly relative abundance resulting in selecting as the representative fish species, and HSI was constructed using physical habitat characteristics of the Zacco platypus. The optimal range of HSI was 0.3~0.5 m/s at the velocity suitability index, 0.4~0.6 m at the depth suitability index, and the substrate was sand to fine gravel. As a result of estimating the optimal ecological flow by applying HSI to PHABSIM, the optimal ecological flow for target stream was 20.0 m³/sec. As a result of analysis two-dimensional spatial analysis of fish habitat using River2D, WUA (Weighted Usable Area) was estimated 107,392.0 m²/1000 m under the ecological flow condition and it showed the fish habitat was secured throughout the target stream compared with Q₃₅₅ condition.