Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which defects in the immune system lead to an increased susceptibility to infections and other complications. Accurate, prompt diagnosis of IEI is crucial for treatment plan and prognostication. In this study, clinical utility of clinical exome sequencing (CES) for diagnosis of IEI was evaluated. For 37 Korean patients with suspected symptoms, signs, or laboratory abnormalities associated with IEI, CES that covers 4,894 genes including genes related to IEI was performed. Their clinical diagnosis, clinical characteristics, family history of infection, and laboratory results, as well as detected variants, were reviewed. With CES, genetic diagnosis of IEI was made in 15 out of 37 patients (40.5%). Seventeen pathogenic variants were detected from IEI-related genes, BTK, UNC13D, STAT3, IL2RG, IL10RA, NRAS, SH2D1A, GATA2, TET2, PRF1, and UBA1, of which four variants were previously unreported. Among them, somatic causative variants were identified from GATA2, TET2, and UBA1. In addition, we identified two patients incidentally diagnosed IEI by CES, which was performed to diagnose other diseases of patients with unrecognized IEI. Taken together, these results demonstrate the utility of CES for the diagnosis of IEI, which contributes to accurate diagnosis and proper treatments

A risk-based ship design approach to progressive structural failure

Strathclyde theses - ask staff. Thesis no. : T13115Although substantial effort has been devoted in the design process of ships to reduce the operational risk level by preventing and mitigating accidental events, the societal expectation on the safety at sea is growing faster than ever. The framework of the safe return to port for passenger ship safety reflects this trend in pursuance of zero tolerance to loss of human life in the event of an accident. Along these lines the emphasis of the survivability of a damaged ship is placed on the damage stability and the hull girder collapse under the explicit assumption that the initial damage extent is fixed. However, in practice it is often observed that progressive degradation of the damaged structure threatens the survival of a ship by causing significant reduction of its strength, as it was witnessed in the loss of MV Prestige. Hence, the information of progressive structural failure in timeline and its effect on the hull girder residual strength is of paramount importance in the course of evaluating survivability of a damaged ship and mitigating the ensuing consequences. This provides an obvious objective for this study, which is the elaboration on a method for progressive structural failure analysis under time varying wave loads and the development of a parametric tool for fast and reliable assessment of the structural survivability of a damaged ship with respect to the damage propagation. The developed tool provides the probability of unstable damage propagation over time, from which the window of safe intervention in emergency operations can be extracted and support the decision-making process in the course of the rescue and salvage operation. Moreover, this work also sets the foundation of a new dimension in the early ship design phase, namely the structural survivability with respect to the progressive structural failure. In this way, it contributes to the holistic safety assessment approach advocated by the design for safety philosophy and the riskbased ship design methodology. The developed tool is fully parametric so as to support decision-making both in the emergency operations, where fast and reliable information is required, and in the early design stage, where various damage cases need to be assessed in order to administer appropriate structural design solutions.Although substantial effort has been devoted in the design process of ships to reduce the operational risk level by preventing and mitigating accidental events, the societal expectation on the safety at sea is growing faster than ever. The framework of the safe return to port for passenger ship safety reflects this trend in pursuance of zero tolerance to loss of human life in the event of an accident. Along these lines the emphasis of the survivability of a damaged ship is placed on the damage stability and the hull girder collapse under the explicit assumption that the initial damage extent is fixed. However, in practice it is often observed that progressive degradation of the damaged structure threatens the survival of a ship by causing significant reduction of its strength, as it was witnessed in the loss of MV Prestige. Hence, the information of progressive structural failure in timeline and its effect on the hull girder residual strength is of paramount importance in the course of evaluating survivability of a damaged ship and mitigating the ensuing consequences. This provides an obvious objective for this study, which is the elaboration on a method for progressive structural failure analysis under time varying wave loads and the development of a parametric tool for fast and reliable assessment of the structural survivability of a damaged ship with respect to the damage propagation. The developed tool provides the probability of unstable damage propagation over time, from which the window of safe intervention in emergency operations can be extracted and support the decision-making process in the course of the rescue and salvage operation. Moreover, this work also sets the foundation of a new dimension in the early ship design phase, namely the structural survivability with respect to the progressive structural failure. In this way, it contributes to the holistic safety assessment approach advocated by the design for safety philosophy and the riskbased ship design methodology. The developed tool is fully parametric so as to support decision-making both in the emergency operations, where fast and reliable information is required, and in the early design stage, where various damage cases need to be assessed in order to administer appropriate structural design solutions

Optimized Replication of ADC-Based Particle Counting Algorithm with Reconfigurable Multi-Variables in Pseudo-Supervised Digital Twining of Reference Dust Sensor Systems

As the application fields for digital twins have expanded, various studies have been conducted with the objective of optimizing the costs. Among these studies, research on low-power and low-performance embedded devices has been implemented at a low cost by replicating the performance of existing devices. In this study, we attempt to obtain similar particle count results in a single-sensing device replicated from the particle count results in a multi-sensing device without knowledge of the particle count acquisition algorithm of the multi-sensing device. Through filtering, we suppressed the noise and baseline movements of the raw data of the device. In addition, in the process of determining the multi-threshold for obtaining the particle counts, the existing complex particle count determination algorithm was simplified to make it possible to utilize the look-up table. The proposed simplified particle count calculation algorithm reduced the optimal multi-threshold search time by 87% on average and the root mean square error by 58.5% compared to existing method. In addition, it was confirmed that the distribution of particle count from optimal multi-thresholds has a similar shape to that from multi-sensing devices

Runtime Tracking-Based Replication of On-Chip Embedded Software Using Transfer Function Learning for Dust Particle Sensing Systems

A digital twin is a widely used method that uses digitized simulations of the real-world characteristics because it is effective in predicting results at a low cost. In digital twin analysis, the transfer function between the input and output data is an important research subject. In this study, we intend to investigate the application of the digital twin method to dust particle sensing. A high-performance multi-channel reference dust particle sensor provides particle count as well as particulate matter information, whereas a lightweight embedded test device only provides a particle count. The particulate matter acquisition algorithm for a reference device is unknown and complex. Instead of that, we propose a simple method to calculate the transfer function using singular-value decomposition. In the experimental results, using singular-value decomposition, the predicted particulate matter of the test device was similar to that of the reference device. The obtained transfer function shows similar measurement results of the two dust particle sensor devices, confirming that particulate matter environmental information can be digitized even with low-power and lightweight sensor-embedded devices. In addition, the power consumption of the test device was approximately ten times lower than that of the reference device

Study of Circular Polarization Change in Chiral Liquid Crystal Elastomer Under Uniaxial Stretching

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Comparison Optical Properties Change between Uniaxial Stretched and Biaxial Stretched Choloesteric Liquid Crystal Elastomers

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An Adaptive Model Uncertainty Estimator Using Delayed State Based Model-free Control and Its Application to Robot Manipulator

In this article, we propose an innovative model-free control (MFC) algorithm using an adaptive model uncertainty estimator (AMUE) that provides stable torque input while allowing more precise control, even in the presence of instantaneous disturbances, such as friction, payload, or trajectory changes. Unlike traditional time-delay estimation (TDE)-based controllers that directly use one-sample delayed signals to estimate unmodeled dynamics and uncertainties, the proposed algorithm achieves better tracking performance by considering not only the one-sample delayed signal but also its gradient with an adaptive gain. Furthermore, the proposed adaptive estimator works well independently of conventional TDE-based controllers, providing a wide range of control gains. This implies that the proposed approach provides the opportunity to strategically improve TDE-based controllers, which have performance limitations caused by conventional TDE technique errors. The proposed algorithm can be easily extended to different TDE-based controllers. Finally, the stability of the AMUE-MFC is guaranteed through the Lyapunov stability theory, and its performance is demonstrated via simulations and experiments with robotic manipulators. © 1996-2012 IEEE.11Nsciescopu