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Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development
Lee, Sangbo,Kim, Se Hee,Kim, Borahm,Lee, Seung-Tae,Choi, Jong Rak,Kim, Heung Dong,Lee, Joon Soo,Kang, Hoon-Chul Elsevier 2020 Pediatric neurology Vol.103 No.-
<P><B>Abstract</B></P> <P><B>Background</B></P> <P>Malformations of cortical development comprise phenotypically heterogeneous conditions, and the diagnostic value of genetic testing in blood still remains to be elucidated. We used targeted gene sequencing to identify malformations of cortical development caused by germline mutations and characteristics associated with pathogenic mutations.</P> <P><B>Methods</B></P> <P>A total of 81 patients with malformations of cortical development were included. Genomic DNA was isolated from peripheral blood. Ninety-six genes were assessed using a targeted next-generation sequencing panel. Single-nucleotide variants and exonic and chromosomal copy number variations were examined with our customized pipeline.</P> <P><B>Results</B></P> <P>Genetic causes were identified from blood in 19 (23.5%) patients with malformations of cortical development; 14 patients had pathogenic or likely pathogenic single-nucleotide variants in seven genes, including <I>DCX</I> (n = 5), <I>DEPDC5</I> (n = 2), <I>PAFAH1B1</I> (n = 3), <I>TUBA1A</I> (n = 1), <I>TUBA8</I> (n = 1), <I>TUBB2B</I> (n = 1), and <I>TUBB3</I> (n = 1). Five patients had pathogenic copy number variations. Multifocal involvement of the lesion (tangential distribution, <I>P</I> < 0.001) and concurrent involvement of multiple structures such as the cortex, white matter, and ventricle (radial distribution, <I>P</I> = 0.003) were more commonly found in patients with identified genetic causes. Intellectual disability was also more commonly associated with pathogenic mutations (<I>P =</I> 0.048). In a multivariable regression analysis, both tangential and radial radiological distribution of malformations of cortical development were independently associated with positive germline test results.</P> <P><B>Conclusion</B></P> <P>We identified germline mutations in almost one-fourth of our patients with malformations of cortical development by using targeted gene sequencing. Germline abnormalities were more likely found in patients who had multifocal malformations of cortical development.</P>
Manganese speciation in Mn-rich CaCO<sub>3</sub>: A density functional theory study
Son, Sangbo,Newton, Aric G.,Jo, Kyoung-nam,Lee, Jin-Yong,Kwon, Kideok D. Pergamon Press 2019 Geochimica et cosmochimica acta Vol.248 No.-
<P><B>Abstract</B></P> <P>The manganese content of aragonitic bivalve shells is a potential archival indicator of temporal Mn bioavailability in aquatic environments. The Mn speciation mechanism in biogenic aragonite minerals remains elusive because the analog is challenging to synthesize, and the metastable phase has yet to be fully resolved experimentally. In this study, we performed density functional theory (DFT) computations of hypothetical Mn-doped aragonite to examine its local coordination structure and thermodynamic and electronic properties. Our DFT calculations reproduced the experimental crystal structures and solubility product constants (<I>K</I> <SUB>sp</SUB>) of Mn-doped calcite. The magnetic moment of Mn was close to 5 <I>μ</I> <SUB>B</SUB> in both Mn-doped calcite and Mn-doped aragonite (Ca<SUB>1−</SUB> <I> <SUB>x</SUB> </I>Mn<I> <SUB>x</SUB> </I>CO<SUB>3</SUB>). The calculated <I>K</I> <SUB>sp</SUB> of Mn-doped aragonite was higher than that of Mn-doped calcite and increased with Mn content, indicative of the unfavorable coprecipitation of Mn with the aragonite phase. We found that the incorporation of a small mole fraction of Mn into aragonite created significant structural distortion around the Mn site, resulting in mixed coordination numbers of Mn (mainly five and seven). Valence-to-core X-ray emission spectroscopy (XES) measurements are useful in determining the coordination environment of Mn complexes. We calculated theoretical XES spectra, with a 1<I>s</I> core hole in Mn, for Mn-doped calcite and four versions of Mn-doped aragonite. The Boltzmann-averaged spectrum for different coordination numbers in Mn-doped aragonite was akin to an experimental XES spectrum of aragonitic bivalve shells. The energy position of the K<I>β</I> <SUB>2,5</SUB> band was calculated to be insensitive to Mn speciation in CaCO<SUB>3</SUB>; however, the band intensity was relatively sensitive to Mn speciation. The XES spectrum intensity decreased exponentially with increasing Mn–O distance. This quantitative XES relationship we report can reduce uncertainties in the spectral interpretation due to the absence of an Mn-doped aragonite reference spectrum.</P>
한상보,이성기,윤신일 慶南大學校 附設 工業技術硏究所 2003 硏究論文集 Vol.21 No.2
Rigid plate elastically supported at the edges is modeled and the performance of the optimal vibration control under sinusoidal excitation is tested. The controller based on the linear quadratic regulator with output feedback is designed to control the multi-degree of freedom vibration Relative weighting parameters are considered as design constraints to determine the limitation of maximum control force and state parameters Control force calculated by proportional output feedback of the displacement and velocity is used to suppress the vibration induced by the sinusoidal external force. The active vibration control of vibrating plate by the LQR controller is examined through the numerical simulations that show the effectiveness of optimal control scheme on the three degrees of freedom structure.
서상보(Sangbo Seo),정진우(Jinwoo Jung),이진영(Jinyoung Lee),서진헌(Jin Heon Seo),심형보(Hyungbo Shim) 대한전기학회 2009 정보 및 제어 심포지엄 논문집 Vol.2009 No.10
본 논문에서는 불확실성을 포함하는 비선형 시스템에 대한 강인 안정화 문제를 고려한다. 시스템의 불확실성은 상태 변수에 의존하는 함수형의 불확실성뿐만 아니라 독립된 시변 불확실성까지 포함한다. 강인 안정화 제어기의 설계를 위해 다이나믹 보정법을 소개하고, 설계된 제어기의 유한성을 보이기 위해서 차수 지시자의 개념을 소개한다.
서상보(Sangbo Seo),이진영(Jinyoung Lee),서진헌(Jin Heon Seo),심형보(Hyungbo Shim) 대한전기학회 2008 대한전기학회 학술대회 논문집 Vol.2008 No.10
본 논문에서는 불확실성을 가지는 비선형 시스템에 대한 강인 유한 시간 안정화 문제를 고려한다. 제안된 설계기법은 역진기법과 추가된 다이나믹스를 이용한 다이나믹 지수 보정법에 기반을 두고 있으면, 이는 전체 시스템의 유한시간 안정화와 제어기의 유한함을 보장한다.
이성기(Seongki Lee),윤신일(Shinil Yun),한상보(Sangbo Han) 대한기계학회 2003 대한기계학회 춘추학술대회 Vol.2003 No.4
Rigid plate elastically supported at the edges is modeled and the performance of the optimal vibration<br/> control under sinusoidal excitation is tested. The controller based on the linear quadratic regulator with output<br/> feedback is designed to control the multi-degree of freedom vibration. Relative weighting parameters are<br/> considered as design constraints to determine the limitation of maximum control force and state parameters.<br/> Control force calculated by proportional output feedback of the displacement and velocity is used to suppress<br/> the vibration induced by the sinusoidal external force. The active vibration control of vibrating plate by the<br/> LQR controller is examined through the numerical simulations that show the effectiveness of optimal control<br/> scheme on the three degrees of freedom structure.
바렉터 다이오드를 이용하지 않은 광대역 Push-Push 전압제어 발진기
이문규,문성모,민상보,Lee Moon-Que,Moon Seong-Mo,Min Sangbo 한국전자파학회 2005 한국전자파학회논문지 Vol.16 No.4
본 논문에서는 저가형 구조에 이용 가능한 X-band 대역의 push-push형 VCO를 제안하였다. 제작된 push-push형 발진기는 부가적인 바렉터 다이오드를 사용하지 않고, 컬렉터 바이어스를 가변하여 X-band에서 넓은 주파수 가변을 얻었다. 측정 결과 컬렉터 바이어스 전압을 $4\~9V$ 가변하였을 때 $10.9\cal{GHz}\~11.8\cal{GHz}$의 $900\cal{MHz}$의 주파수 가변, $-30\;\cal{dBc}$ 이하의 우수한 $f_0$ 억압 특성, $-115\;\cal{dBc/Hz}\;@\;1\;\cal{MHz}$의 위상 잡음 특성을 가졌다. An X-band push-push VCO for low cost applications is proposed. The designed push-push oscillator achieves a wide tuning range in the X-band by the collector bias tuning instead of extra varactor diodes. The measurement shows a wide tuning bandwidth of $900\;\cal{MHz}\;from\;10.9\;\cal{GHz}\;to\;11.8\;\cal{GHz}$ with a drain bias voltage varying from 4 to 9 V, excellent fudamental suppression of $-30\;\cal{dBc}$ and good phase noise of $-115\;\cal{dBc/Hz}\;@\;1\;\cal{MHz}$ offset.
김수범(Subum Kim),서상보(Sangbo Seo),이성훈(Sunghun Lee),서진헌(Jin H. Seo),심형보(Hyungbo Shim) 대한전기학회 2008 대한전기학회 학술대회 논문집 Vol.2008 No.10
In this paper, the problem of stabilization for nonlinear systems with state constraints is addressed. The designed Lyapunov function guarantees that system states remain within constraints for all time and the control law constructed using backstepping renders the origin exponentially stable in the safe region.