A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.     

Combining molybdenum carbide with ceria overlayers to boost Mo/CeO2 catalyzed ammonia synthesis

The design of an efficient non-noble metal catalyst is of burgeoning interest for ammonia synthesis. Herein, we report a Mo₂C/CeO₂ catalyst that is superior in ammonia synthesis activity. In this catalyst, molybdenum carbide coexisted with the ceria overlayers which is from the ceria support as the strong metal–support interaction. There is a high proportion of low-valent Mo species, as well as high concentration of Ce³⁺ and surface oxygen species. The presence of Mo₂C and CeO₂ overlayers not only leads to enhancement of hydrogen and nitrogen adsorption, but also facilitates the desorption and exchange of adsorbed species with the gaseous reagents. Compared with the Mo/CeO₂ catalyst prepared without carbonization, the Mo₂C/CeO₂ catalyst is more than sevenfold higher in ammonia synthesis rate. This work not only presents an explicit example of designing Mo-based catalyst that is highly efficient for ammonia synthesis by tuning the adsorption and desorption properties of the reactant gases, but opens a perspective for other elements in ammonia synthesis.     

Finite-difference time-domain simulation of scattering from objectsin continuous random media

A three-dimensional (3D) finite-difference time-domain (FDTD) scheme is introduced to model the scattering from objects in continuous random media. FDTD techniques have been previously applied to scattering from random rough surfaces and randomly placed objects in a homogeneous background, but little has been done to simulate continuous random media with embedded objects where volumetric scattering effects are important. In this work, Monte Carlo analysis is used in conjunction with FDTD to study the scattering from perfectly electrically conducting (PEC) objects embedded in continuous random media. The random medium models under consideration are chosen to be inhomogeneous soils with a spatially fluctuating random permittivities and prescribed correlation functions. The ability of frequency averaging techniques to discriminate objects in this scenarion is also briefly investigated. The simulation scheme described in this work can be adapted and used to help in interpreting the scattered field data from targets in random environments such as geophysical media, biological media, or atmospheric turbulence     

Reliability Analysis of Single-Degree-of-Freedom Elastoplastic Systems. II: Suboptimal Excitations

A method for constructing an approximation of the critical excitation that drives an elastoplastic system from rest to a target threshold at a specified time instant, referred to as the “suboptimal excitation,” is presented in this paper. It is based on the observations gained from study of the critical excitations in the companion paper. Essentially, for the usual case of interest where the failure time is not small compared to the natural period, the duration of the positive and negative pulses of the critical excitation are roughly equal to half of the natural period. This consideration allows for a simple intuitive approximation of the critical excitation. The amplitudes of the positive and negative pulses are obtained in closed forms using energy balance. Numerical investigations show that the critical excitations are well approximated by the suboptimal excitations.     

Electrophysiological and Fos immunohistochemical evidence for the excitatory nature of the parafascicular projection to the globus pallidus

Extracellular recordings and immunohistological detection of c-Fos-like immunoreactive proteins were used to determine the synaptic effect of the parafascicular projection to the globus pallidus. Electrical stimulation of the parafascicular neurons induced a single-spike excitatory response with a stable latency of 2.3 ms, suggesting a monosynaptically driven effect. Pharmacological stimulation of the parafascicular nucleus with carbachol increased tonically the pallidal discharge rate by 142%. The discharge rate of the pallidal neurons was described by 37% in parafascicular-lesioned rats. These results demonstrate the excitatory nature and the tonic action of the parafasciculopallidal projection. Carbachol activation of parafascicular neurons also induced the synthesis of c-Fos-like immunoreactive proteins in the pallidal neurons. Control experiments in subthalamic-lesioned rats showed that the parafascicular excitation of the pallidal neurons remained, but both electrophysiological and expression of c-Fos-like immunoreactive proteins were attenuated. This suggests that the direct parafascicular excitation of the pallidal neurons is indirectly reinforced by the previously described parafascicular excitatory input to the subthalamic nucleus. Conversely, the effect of this last input to the subthalamic nucleus is dramatically enhanced in rats with pallidal lesion. Our results demonstrate the complex role of the parafascicular nucleus in activating both the globus pallidus and the subthalamic nucleus, two closely related structures. These results illustrate the integrative capacities of the globus pallidus, whose activity is modulated by multiple afferents.     

Comparative characterization of endurance properties of ischemic myocardium in cyclic and quasistatic mechanical loads

The mechanical properties of totally ischemic hearts of inbred albino rats were studied. The ischemic myocardium was found to be more sensitive to cyclic loads. Energy deficient contracture of cardiomyocytes is a factor which increases the resistance of the myocardium to mechanical effects.     

Diurnal thermal cycling effects on microwave signatures of thin seaice

To investigate effects of diurnal thermal cycles on C-band polarimetric backscatter and millimeter-wave emission from sea ice, the authors carried out a winter experiment at the outdoor geophysical research facility (GRF) in the cold regions research and engineering laboratory (CRREL), the ice sheet grew from open sea water to a thickness of 10 cm in 2.5 days, during which they took polarimetric backscatter data with a C-band scatterometer, interlaced with brightness temperature measurements at 90 GHz in conjunction with meteorological and sea ice characterizations. The initial ice growth in the late morning was slow due to high insolation. As the air temperature dropped during the night, the growth rate increased significantly. Air temperature changed drastically from about -12 to -36°C between day and night, the diurnal thermal cycle repeated itself the next day and the growth rate varied in the same manner. Ice temperature profiles clearly show the diurnal response in the ice sheet with a lag of 2.5 h behind the time of the maximum short-wave incident solar radiation. The diurnal cycles are also evident in the millimeter-wave brightness temperature data, measured sea ice backscatter revealed substantial diurnal variations up to 6 dB with repeatable cycles in synchronization with the temperature cycles and the brightness temperature modulations, the diurnal cycles in backscatter indicate that the dominant scattering mechanism related to thermodynamic processes in sea ice is reversible, a diurnal backscatter model based on sea ice electrodynamics and thermodynamics explains the observed diurnal signature. This work shows that diurnal effects are important for inversion algorithms to retrieve sea ice geophysical parameters from remote sensing data acquired with a satellite synthetic aperture radar (SAR) or scatterometer on Sun-synchronous orbits     

Static and free vibration analysis of variable-depth bridges of arbitrary alignments using the isoparametric spline finite strip method

The isoparametric spline finite strips for shells are employed to solve static and free vibration problems of variable-depth bridges of arbitrary alignments. Using this approach, a continuous bridge is first split up into substructures. Each substructure is modelled as an assemblage of isoparametric spline finite strips. Compatibility between substructures is ensured by suitable transformation at the interface. The presence of support diaphragms and bearings can also be accounted for. This method retains the computational efficiency of the spline finite strip method while it is much more flexible in geometric modelling. Solutions of this method are compared with other available solutions, and good agreement is observed.     

Free vibration and stability analysis of shells by the isoparametric spline finite strip method

The isoparametric spline finite strip method has been applied to the free vibration and stability analysis of shells. The convergence of the method is reviewed critically. Additional numerical examples on shells of different geometry are also employed to demonstrate the efficiency, accuracy and versatility of the method.