Bollfogh8724

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. selleck inhibitor 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.