Further supporting evidence for REEP1 phenotypic and allelic heterogeneity.

Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the mitochondria and endoplasmic reticulum (ER) and facilitates ER-mitochondria interactions.2 In addition to the HSP phenotype, REEP1 has been associated with an autosomal dominant spinal type of Charcot-Marie-Tooth disease in 2 families.3 More recently, a patient with homozygous REEP1 mutation with a much more severe phenotype akin to spinal muscular atrophy with respiratory distress type 1 (SMARD1) was reported.4 In this report, we present a patient with a homozygous mutation in REEP1 manifesting a severe congenital distal spinal muscular atrophy (SMA) with diaphragmatic paralysis, expanding the phenotype from mild autosomal dominant HSP through to severe recessive distal SMA pattern

Tidal supplementary control schemes-based load frequency regulation of a fully sustainable marine microgrid

The world is targeting fully renewable power generation by the middle of the century. Distributed generation is the way to increase the penetration level of renewable energies. This paper presents load frequency control of a hybrid tidal, wind, and wave microgrid to feed an isolated island. This research is a step towards 100% renewable energy communities in remote seas/oceans islands. The wave and tidal generation systems model are presented. The study presents load frequency control through three supplementary control strategies: conventional integrators, fractional order integrator, and non-linear fractional order integrator. All the controllers of the microgrid are designed by using a novel black widow optimization technique. The applied technique is compared to other existing state-of-the-art algorithms. The results show that the black widow non-linear fractional integrator has a better performance over other strategies. Coordination between the unloaded tidal system and blade pitch control of both wind and tidal systems are adopted in the microgrid to utilize the available reserve power for the frequency support. Simulation and optimization studies are performed using the MATLAB/SIMULINK 2017a software application

Accelerated design of architectured ceramics with tunable thermal resistance via a hybrid machine learning and finite element approach

Abstract Topologically interlocked architectures can transform brittle ceramics into tougher materials, while making the material design procedure a cumbersome task since modeling the whole architectural design space is not efficient and, to a degree, is not viable. We propose an approach to design architectured ceramics using machine learning (ML), trained by finite element analysis data and together with a self-learning algorithm, to discover high-performance architectured ceramics in thermomechanical environments. First, topologically interlocked panels are parametrically generated. Then, a limited number of designed architectured ceramics subjected to a thermal load is studied. Finally, the multilinear perceptron is employed to train the ML model in order to predict the thermomechanical performance of architectured panels with varied interlocking angles and number of blocks. The developed feed-forward artificial neural network framework can boost the architectured ceramic design efficiency and open up new avenues for controllability of the functionality for various high-temperature applications. This study demonstrates that the architectured ceramic panels with the ML-assisted engineered patterns show improvement up to 30% in frictional energy dissipation and 7% in the sliding distance of the tiles and 80% reduction in the strain energy, leading to a higher safety factor and the structural failure delay compared to the plain ceramics

Composite fermions close to the one-half filling of the lowest Landau level revisited

By strictly adhering to the microscopic theory of composite fermions for the Landau-level filling fractions nu_e = p/(2 p + 1), we reproduce, with remarkable accuracy, the surface-acoustic-wave (SAW)-based experimental results by Willett and co-workers concerning two-dimensional electron systems with nu_e close to 1/2. Our results imply that the electron band mass m_b, as distinct from the composite fermion mass m_*, must undergo a substantial increase under the conditions corresponding to nu_e approximately equal to 1/2. In view of the relatively low aerial electronic densities n_e to which the underlying SAW experiments correspond, our finding conforms with the experimental results by Shashkin et al. [Phys. Rev. B 66, 073303 (2002)], concerning two-dimensional electrons in silicon, that signal sharp increase in m_b for n_e decreasing below approximately 2 x 10^{11} cm^{-2}. We further establish that a finite mean-free path l_0 is essential for the observed linearity of the longitudinal conductivity sigma_{xx}(q) as deduced from the SAW velocity shifts.Comment: 5 pages, 2 postscript figure

Large scale structure around a z=2.1 cluster

The most prodigious starburst galaxies are absent in massive galaxy clusters today, but their connection with large scale environments is less clear at $z\gtrsim2$. We present a search of large scale structure around a galaxy cluster core at $z=2.095$ using a set of spectroscopically confirmed galaxies. We find that both color-selected star-forming galaxies (SFGs) and dusty star-forming galaxies (DSFGs) show significant overdensities around the $z=2.095$ cluster. A total of 8 DSFGs (including 3 X-ray luminous active galactic nuclei, AGNs) and 34 SFGs are found within a 10 arcmin radius (corresponds to $\sim$15 cMpc at $z\sim2.1$) from the cluster center and within a redshift range of $\Delta z=0.02$, which leads to galaxy overdensities of $\delta_{\rm DSFG}\sim12.3$ and $\delta_{\rm SFG}\sim2.8$. The cluster core and the extended DSFG- and SFG-rich structure together demonstrate an active cluster formation phase, in which the cluster is accreting a significant amount of material from large scale structure while the more mature core may begin to virialize. Our finding of this DSFG-rich structure, along with a number of other protoclusters with excess DSFGs and AGNs found to date, suggest that the overdensities of these rare sources indeed trace significant mass overdensities. However, it remains puzzling how these intense star formers are triggered concurrently. Although an increased probability of galaxy interactions and/or enhanced gas supply can trigger the excess of DSFGs, our stacking analysis based on 850 $\mu$m images and morphological analysis based on rest-frame optical imaging do not show such enhancements of merger fraction and gas content in this structure.Comment: 11 pages, 4 figures, ApJ accepte

Fixed priority scheduling with pre-emption thresholds and cache-related pre-emption delays: integrated analysis and evaluation

Commercial off-the-shelf programmable platforms for real-time systems typically contain a cache to bridge the gap between the processor speed and main memory speed. Because cache-related pre-emption delays (CRPD) can have a significant influence on the computation times of tasks, CRPD have been integrated in the response time analysis for fixed-priority pre-emptive scheduling (FPPS). This paper presents CRPD aware response-time analysis of sporadic tasks with arbitrary deadlines for fixed-priority pre-emption threshold scheduling (FPTS), generalizing earlier work. The analysis is complemented by an optimal (pre-emption) threshold assignment algorithm, assuming the priorities of tasks are given. We further improve upon these results by presenting an algorithm that searches for a layout of tasks in memory that makes a task set schedulable. The paper includes an extensive comparative evaluation of the schedulability ratios of FPPS and FPTS, taking CRPD into account. The practical relevance of our work stems from FPTS support in AUTOSAR, a standardized development model for the automotive industry

The investigation of relevancy between PIAS1 and PIAS2 gene expression and disease severity of multiple sclerosis

Introduction: PIAS1 and PIAS2 (protein inhibitor of activated STAT 1,2) play key roles in the pathogenesis of autoimmune and inflammatory diseases. This study aims to evaluate the gene expression of these factors in multiple sclerosis (MS) patients compared to healthy individuals and correlate them with the severity of MS. Materials and methods: Sixty participants, including 30 patients with MS and 30 healthy controls were studied. The expression of PIAS1 and PIAS2 genes in peripheral blood samples of all participants was measured by real-time PCR. The severity of MS was evaluated using the Expanded Disability Status Scale (EDSS). Finally, we evaluated the correlation between the expression of PIAS1 and PIAS2 genes with disease severity. Results: The expression of PIAS1 gene was increased in patients with MS compared to healthy subjects (P value<.001). Also, there was a significant correlation between the expression of PIAS1 and PIAS2 genes with disease severity according to EDSS. Conclusion: Our study suggests the expression of PIAS1 and PIAS2 genes as a prognostic and diagnostic marker in MS disease. © 2019, © 2019 Taylor & Francis

Novel approach for automatic mid-diastole frame detection in 2D echocardiography sequences for performing planimetry of the mitral valve orifice

The mitral valve orifice area is a reliable measure for evaluating mitral valve stenosis (MS) severity, which is obtained by the planimetry of the mid-diastole frame in the echocardiography sequences. Since the manual method for determining this frame is time-consuming and user-dependent, a novel automatic method has been proposed in this study. First, the region of interest (ROI) containing the mitral valve orifice region is detected using circular Hough transform and k-means algorithms. Then, the dimension reduction method is applied to the ROI of each frame to map it into a point in a 2D space. The performance of the local linear embedding (LLE), isometric mapping, kernel principal component analysis (PCA), and linear PCA algorithms has been evaluated in this study. Finally, a distance curve is obtained by calculating the Euclidean distance between consecutive points in 2D space, and the mid-diastole frame is determined by interpreting this curve. The proposed algorithm was validated using 2D echocardiography of the 20 MS patients. Finally, the LLE method showed the best result, and the average frame difference for 20 cases using the proposed method compared with the gold standard (the echo-cardiologist opinion) was 1.40. © The Institution of Engineering and Technology 2020

Engineering toughening mechanisms in architectured ceramic-based bioinspired materials

Abstract Ceramics offer many attractive properties including low-density, high compressive strength, remarkable thermal stability, and high oxidation/corrosion resistance. However, these materials suffer from brittleness, which substantially limits the range of their applications, where high toughness is required. This investigation draws inspiration from a concept of architectures with three-dimensional (3D) networks of weak interfaces targeting high toughness ceramics. In this study, a comprehensive method combining an advanced computational model with 3D digital image correlation (DIC) was developed to engineer bioinspired multilayered architectured ceramics and assesses their toughening and deformation mechanisms when subjected to a low-velocity impact load regime. A complete finite element (FE) analysis was conducted to precisely evaluate the crack growth and displacement field of the architectured ceramics and is compared to those of plain ceramics. The damage and displacement evolution results from FE analysis and experimental testing revealed that the primary source of toughening of the architectured ceramic systems is extrinsic, resulting from extensive crack deflection and delamination. Crack propagation along an irregular long path at the weak interfaces of architectured layers increased the toughness of the plain ceramics by two orders of magnitude. Based on the DIC data, both extrinsic and intrinsic toughening mechanisms were captured: sliding of the tiles in the architectured ceramics and channel plastic deformation in adhesive interlayers, respectively