Notes

The particular Gamma Distance Anticipates All-Cause Fatality in Persistent Dialysis Individuals.
Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form.

The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation extended beyond Stickler syndrome and included enlarged vestibular aqueduct (EVA) and persistent microhematuria.

After sequencing of clinical exome, a known de novo COL2A1 pathogenic variant (c.1833+1G>A, p.?) causative for Stickler syndrome and one paternally inherited pathogenic change in COL4A5 (c.1871G>A, p.Gly624Asp) causative for X-linked Alport syndrome were found. No pathogenic variants, including those within the SLC26A4 5' region (Caucasian EVA haplotype), explaining the development of EVA, were identified.

The study reveals a multilocus genomic variation in one individual and provides a molecular diagnosis of two HL syndromes that co-occur in the proband independent of each other. For the third entity, EVA, no etiological factor was identified. Our data emphasize the relevance of detailed clinical phenotyping for accurate genotype interpretation. Focus on broadening the phenotypic spectrum of known genetic syndromes may actually obscure patients with multiple molecular diagnoses.
The study reveals a multilocus genomic variation in one individual and provides a molecular diagnosis of two HL syndromes that co-occur in the proband independent of each other. For the third entity, EVA, no etiological factor was identified. Our data emphasize the relevance of detailed clinical phenotyping for accurate genotype interpretation. Focus on broadening the phenotypic spectrum of known genetic syndromes may actually obscure patients with multiple molecular diagnoses.Black phosphorus (BP) is a novel two-dimensional nanostructure with wide potential applications in such areas as nanoresonators and nanosensors. In this study, we concentrate on the role of the bending stiffness of the BP monolayer in its mechanical performances, including tension, compression, buckling and bending. Firstly, the stress-strain curve and Young's modulus of the single layer black phosphorus (SLBP) nanoribbon with different chiral structures are obtained in the tension process via the molecular dynamics (MD) simulation. Next, the loading behavior of the SLBP nanoribbon during compression is simulated via MD. It was found that the bending stiffness of the nanoribbon has an essential effect on its postbuckling behaviors, and an empirical formula is proposed which can accurately depict the postbuckling process. Eventually, the bending properties of chiral SLBP nanoribbons are explored via the MD simulation, and the modified expression of the bending stiffness can better predict its large deflection. These findings are beneficial for us to fully understand mechanical responses of BP, which hold implications in engineering new materials and devices at nanoscale.Squid possess a mantle that is able to quickly compress an internal fluid, thus providing a jetting locomotion that enables them to be the fastst aquatic invertebrates. The mantle possesses a complex collagen fiber and muscular system, and the primary propulsion is accomplished through circumferential muscles (90°) contracting around the mantel. In addition, jetting is also enhanced through elastic energy stored in the helically-wound IM-1 collagen fibers. The angles of these fibers have been measured between 28° to 32° in different species of squid. Inspired by the muscular fiber configuration found in the mantle of squid, novel pumps that use shape memory alloy (SMA) active fibers oriented at precise angles around a cylindrical shell are investigated through experiments and analytical studies. A thermomechanical model of a SMA active fiber pump is presented and the parameters are identified through experiments. Using the thermomechanical model of the SMA fiber, an analytical model of the SMA active fiber pump is presented and is validated through experiments. Results show that maximum pumping power and efficiency is achieved for pumps when the matrix modulus is less than the fiber modulus and the optimal fiber wind angle is ±55°. When the matrix modulus is similar to the fiber modulus, maximum pumping performance is achieved with a wind angle of ±90°, similar to the angle of the circumferential muscles in the squid mantel.We are developing a multi-detector pinhole-based stationary brain-dedicated SPECT system AdaptiSPECT-C. In this work, we introduced a new design prototype with multiple adaptable pinhole apertures for each detector to modulate the multiplexing by employing temporal shuttering of apertures. Temporal shuttering of apertures over the scan time provides the AdaptiSPECT-C with the capability of multiple-frame acquisition. We investigated, through analytic simulation, the impact of projection multiplexing on image quality using several digital phantoms and a customized anthropomorphic phantom emulating brain perfusion clinical distribution. The 105 pinholes in the collimator of the system were categorized into central, axial, and lateral apertures. We generated, through simulation, collimators of different multiplexing levels. Several data acquisition schemes were also created by changing the imaging time share of the acquisition frames. Sensitivity increased by 35% compared to the single-pinhole-per-detector base mean-square errors for the brain gray-matter regions were achieved with the combined usage of the central apertures and axial/lateral apertures.The rare-earth pyrosilicate family of compounds (RE2Si2O7) hosts a variety of polymorphs, some with honeycomb-like geometries of the rare-earth sublattices, and the magnetism has yet to be deeply explored in many of the cases. Here we report on the ground state properties of C-Er2Si2O7. C-Er2Si2O7crystallizes in the C2/m space group and the Er3+atoms form a distorted honeycomb lattice in thea-bplane. We have utilized specific heat, DC susceptibility, and neutron diffraction measurements to characterize C-Er2Si2O7. Our specific heat and DC susceptibility measurements show signatures of antiferromagnetic ordering at 2.3 K. Neutron powder diffraction confirms this transition temperature and the relative intensities of the magnetic Bragg peaks are consistent with a collinear Néel state in the magnetic space group C2'/m, with ordered moment of 6.61 μBcanted 13○away from thec-axis toward thea-axis. These results are discussed in relation to the isostructural quantum dimer magnet compound Yb2Si2O7.Molecular dynamics (MD) are extremely complex, yet understanding the slow components of their dynamics is essential to understanding their macroscopic properties. To achieve this, one models the MD as a stochastic process and analyses the dominant eigenfunctions of the associated Fokker-Planck operator, or of closely related transfer operators. So far, the calculation of the discretized operators requires extensive MD simulations. The square-root approximation of the Fokker-Planck equation is a method to calculate transition rates as a ratio of the Boltzmann densities of neighboring grid cells times a flux, and can in principle be calculated without a simulation. In a previous work we still used MD simulations to determine the flux. Here, we propose several methods to calculate the exact or approximate flux for various grid types, and thus estimate the rate matrix without a simulation. Using model potentials we test computational efficiency of the methods, and the accuracy with which they reproduce the dominant eigenfunctions and eigenvalues. For these model potentials, rate matrices with up to [Formula see text] states can be obtained within seconds on a single high-performance compute server if regular grids are used.Ba0.85Ca0.15Ti0.9Zr0.1O3(BCZTO) ferroelectric ceramic loaded with Ag nanoparticles (NPs) was explored for their photo/piezocatalytic performance. LY3295668 chemical structure The presence of Ag loading on BCZTO ceramic was confirmed using the electron microscopes. X-ray photoelectron spectroscopy revealed the metallic chemical state of Ag NPs loaded on the surface of BCZTO ceramic. The absorbance spectrum of the Ag loaded BCZTO sample showed visible light absorption hump due to the phenomenon of surface plasmonic resonance (SPR). During the photocatalysis process, the ~99% of rhodamine B (RB) dye was degraded in aqueous solution using Ag loaded BCZTO sample showing its promising photocatalysis activity. During piezocatalysis process, the ~95% of RB dye was degraded using Ag loaded BCZTO sample showing its promising piezocatalytic activity. The •OH radical species were found responsible behind the photocatalytic and piezocatalytic performance. The photo/piezocatalytic performance was found to be consistent over five cycles indicating promising reusability of Ag loaded BCZTO sample.Humans are made up of mostly soft tissue that vibrates during locomotion. This vibration has been shown to store and dissipate energy during locomotion. However, the effects of soft tissue vibration (wobbling masses) on the dynamics of bipedal walking have not been assessed in terms of stability. Given that much of the human body is vibrating just following foot-ground contact, it may have dynamic implications on the stability of walking. A rigid bipedal walker and a bipedal walker with soft tissue were simulated to quantify the effects of soft tissue vibration on gait periodicity, orbital stability, global stability, and robustness to uneven terrain. It was found that moderate amounts of energy dissipation resulted in much more stable walking dynamics relative to that of a rigid bipedal walker.We investigate theoretically, through of first-principles calculations, the effect of the application of large in-plane uniaxial stress on single-layer of MoS2, MoSe2, and MoSSe alloys. For stress applied along the zigzag direction, we predict an anomalous behavior near the point fracture. This behavior is characterized by the reorientation of the MoS2structure along the applied stress from zigzag to armchair due to the formation of transient square-lattice regions in the crystal, with an apparent (although not real) crystal rotation of 30 degrees. After reorientation, a large plastic deformation √3-1 remains after the stress is removed. This behavior is also observed in MoSe2and in MoSSe alloys. This phenomenon is observed both in stress-constrained geometry optimizations and in ab initio molecular dynamics simulations at finite temperature and applied stress.The mechanical properties of Au nanoparticle arrays are studied by tensile and compressive deformation, using large-scale molecular dynamics simulations which include up to 16 million atoms. Our results show that mechanical response is dominated by nanoparticle size. For compression, strength versus particle size shows similar trends in strength than full-density nanocrystals. For diameters (d) below 10 nm there is an inverse Hall-Petch (HP) regime. Beyond a maximum at 10 nm, strength decreases following a HP d -1/2 dependence. In both regimes, interparticle sliding and dislocation activity play a role. The array with 10 nm nanoparticles showed the same mechanical properties than a polycrystalline bulk with the same grain size. This enhanced strength, for a material nearly 20% lighter, is attributed to the absence of grain boundary junctions, and to the array geometry, which leads to constant flow stress by means of densification, nanoparticle rotation, and dislocation activity. For tension, there is something akin to brittle fracture for large grain sizes, with NPs debonding perpendicular to the traction direction.
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