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.     

Tedesko’s Philadelphia Skating Club: Refinement of an Idea

This paper presents new aspects of Anton Tedesko’s design for an important thin shell concrete roof. The study of this roof results from the examination of original engineering drawings and calculations which we present with the goal of promoting a greater understanding of the structural design of a major figure in the tradition of 20th century building.     

A DSS for Production Planning

This paper presents a decision support system designed to aid the production planner in choosing the values of the principle parameters governing just-in-time manufacturing. The DSS uses a knowledge base composed of data from simulations of the production of the entire product line under systematically varied conditions. The planners may add data from actual production experience as it is obtained. The stochastic dominance outranking method of Martel and Zaras allows the identification of clusters of parameters that respect the preferences of the decision maker. When launching an order for a product, the decision maker may judge certain sets of parameters to be equivalent. A visual interactive simulation model will then allow their comparison according to three performance criteria.     

Al2O3─SiC Composites from Aluminosilicate Precursors

Al₂O₃ and SiC composite materials have been produced from mixtures of aluminosilicates (both natural minerals and synthetic) and carbon as precursor materials. These composites are produced by heating a mixture of kaolinite (or synthetic aluminosilicates) and carbon in stoichiometric proportion above 1550°C, so that only Al₂O₃ and SiC remain as the major phases. A similar process has also been used for synthesizing other composite powders having mixtures of Al₂O₃, SiC, TiC, and ZrO₂ in different proportions (all compounds together or selective mixtures of some of them), as desired. The microstructure of hot-pressed dense compacts, produced from these powders, revealed that the SiC phase is distributed very homogeneously, even occasionally within Al₂O₃ grains on a nanosize scale. The homogeneous distribution of SiC particles within the system produced high fracture toughness of the hot-pressed material (K_IC∼ 7.0 MPa · m^1/2) and having Vicker's hardness values greater than 2000 kgf/mm².     

Thermal stability of NO 2 ⋅ and NO⋅ radicals formed in an Al23 catalyst during its preparation from a nitrate precursor

During the preparation of alumina as a catalyst support from aluminium nitrates by precipitation with a NH₄OH base, NO ₂ ^⋅ radicals have been formed in the catalyst after calcination under air in the solid at different temperatures. These radicals remained stable until a calcination temperature of 800°C. When the calcined catalyst was degassed under vacuum above 300 °C, the NO ₂ ^⋅ was reduced to give NO^⋅ and O^- species which were both tightly trapped in the solid. These latter species remained stable until vacuum treatment at 800 °C. This revised version was published online in July 2006 with corrections to the Cover Date.     

Toughening epoxy resins with polyepichlorohydrin

Polyepichlorohydrin (PECH) rubbers were found to toughen epoxy resins based on the diglycidyl ether of bisphenol A (DGEBA) and cured with piperidine. The degree of toughening depends on the molecular weight of the PECH and on the curing temperature. Best toughening was achieved with PECH of the highest nominal molecular weight of 3400 (Hydrin 10 × 2). Hydrin 10 × 1 (nominal molecular weight 1700) did not toughen the epoxy resin unless bisphenol A was also added, whereas Hydrin 10 × 2 toughened it in the absence of bisphenol A. Curing resins containing bisphenol A and Hydrin 10 × 1 at 160°C resulted in a slightly more brittle resin than when cured at 120°C. The effect of PECH rubbers on the T_g, modulus, and hot/wet properties is similar to that of carboxy-terminated butadiene-acrylonitrile rubbers (CTBN). Dynamic mechanical thermal analysis (DMTA) and scanning electron micrographs (SEM) of fractured surfaces show that the PECH separates as a discrete phase during curing. © 1993 John Wiley & Sons, Inc.     

High speed two-dimensional optical beam position detector

Disclosed is the design of a high speed two-dimensional optical beam position detector which outputs the X and Y displacement and total intensity linearly. The experimental detector measures the displacement from DC to 123 MHz and the intensity of an optical spot in a similar way as a conventional quadrant photodiode detector. The design uses four discrete photodiodes and simple dedicated optics for the position decomposition which enables higher spatial accuracy and faster electronic processing than conventional detectors. Measurements of the frequency response and the spatial sensitivity demonstrate high suitability for atomic force microscopy, scanning probe data storage applications, and wideband wavefront sensing. The operation principle allows for position measurements up to 20 GHz and more in bandwidth.     

Digital narrative conventions in heritage trail mobile apps

ABSTRACT

Galleries, libraries, archives and museums (GLAMs) are increasingly using digital technologies for storytelling and creating mobile applications (apps) for cultural heritage content, but how apps are used in practice to communicate information to users has not been widely studied. A team of people from a heritage organisation, a university, and mobile app development group plan to create a bespoke heritage trail app for Ireland, but to date design conventions/recommendations for this genre are lacking. This article applies a systematic approach to digital narrative content analysis to better understand how apps are being used specifically for heritage trails with the aim of identifying what the common features are, which modalities and narrative techniques are used. The selected corpus included 55 apps downloaded from the Google Play Store. The results of this content analysis—based on the App Walkthrough Method (Light, B., Burgess, J., & Duguay, S. (2018). The walkthrough method: An approach to the study of apps. New Media & Society, 20(3), 881–900)—show that there is a gap between academic research themes/trends and how digital narrative is actually being communicated in the current market, and it aims to inform the future development of heritage trail apps by including a list of design and content features common to this genre.     

Pull-in-based μg-resolution accelerometer: Characterization and noise analysis

The pull-in time (t_pi) of electrostatically actuated parallel-plate microstructures enables the realization of a high-sensitivity accelerometer that uses time measurement as the transduction mechanism. The key feature is the existence of a metastable region that dominates pull-in behavior, thus making pull-in time very sensitive to external accelerations. Parallel-plate MEMS structures have been designed and fabricated using a SOI micromachining process (SOIMUMPS) for the implementation of the accelerometer. This paper presents the experimental characterization of the microdevices, validating the concept and the analytical models used. The accelerometer has a measured sensitivity of 0.25 μs/μg and a bandwidth that is directly related to the pull-in time, BW = 1/2t_pi ≈ 50 Hz. These specifications place this sensor between the state of the art accelerometers found both in the literature and commercially. More importantly, the resolution of the measurement method used is very high, making the mechanical-thermal noise the only factor limiting the resolution. The in-depth noise analysis to the system supports these conclusions. The total measured noise floor of 400 μg (100 μs) is mainly due to the contribution of the environmental noise, due to lack of isolation of the experimental setup from the building vibrations (estimated mechanical thermal noise of 2.8 μg/√Hz). The low requirements of the electronic readout circuit makes this an interesting approach for high-resolution accelerometers.