Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes (ATM, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53) in a cohort of 450 Italian patients with Hereditary Breast/Ovarian Cancer Syndrome, wild type for germline mutation in BRCA1/2 genes. The analysis was extended to 5′UTR and 3′UTR of all the genes listed above and to the BRCA1 and BRCA2 known regulatory regions in a subset of 120 patients. The screening was performed through NGS target resequencing on the Illumina platform MiSeq. 8.7% of the patients analyzed is carriers of class 5/4 coding variants in the ATM (3.6%), BRIP1 (1.6%), CHEK2 (1.8%), PALB2 (0.7%), RAD51C (0.4%), RAD51D (0.4%), and TP53 (0.2%) genes, while variants of uncertain pathological significance (VUSs)/class 3 were identified in 9.1% of the samples. In intron-exon junctions and in regulatory regions, variants were detected respectively in 5.1% and in 32.5% of the cases analyzed. The average age of disease onset of 44.4 in non-coding variant carriers is absolutely similar to the average age of disease onset in coding variant carriers for each proband’s group with the same cancer type. Furthermore, there is not a statistically significant difference in the proportion of cases with a tumor onset under age of 40 between the two groups, but the presence of multiple non-coding variants in the same patient may affect the aggressiveness of the tumor and it is worth underlining that 25% of patients with an aggressive tumor are carriers of a PTEN 3′UTR-variant. This data provides initial information on how important it might be to extend mutational screening to the regulatory regions in clinical practice.     

Detection of frozen salt in pipes using gamma-ray spectrometry of potassium self-activity

Solar plants that use molten salts as heat transfer fluid need careful control to avoid the freezing of the salt in the pipes; if such a problem occurs, a diagnostic instrument to localize where is the frozen salt plug and to determine its length is useful. If the salt contains potassium (as is the case of the most common mixture used in solar plants, NaNO₃/KNO₃ 60/40% by weight), the gamma decay of the natural unstable isotope ⁴⁰K can be exploited to detect the frozen salt in a non-invasive way. Simulations and experimental results regarding the detectability of such plugs with different masses/lengths are presented.     

Learning Syntax by Automata Induction

In this paper we propose an explicit computer model for learning natural language syntax based on Angluin's (1982) efficient induction algorithms, using a complete corpus of grammatical example sentences. We use these results to show how inductive inference methods may be applied to learn substantial, coherent subparts of at least one natural language — English — that are not susceptible to the kinds of learning envisioned in linguistic theory. As two concrete case studies, we show how to learn English auxiliary verb sequences (such as could be taking, will have been taking) and the sequences of articles and adjectives that appear before noun phrases (such as the very old big deer). Both systems can be acquired in a computationally feasible amount of time using either positive examples, or, in an incremental mode, with implicit negative examples (examples outside a finite corpus are considered to be negative examples). As far as we know, this is the first computer procedure that learns a full-scale range of noun subclasses and noun phrase structure. The generalizations and the time required for acquisition match our knowledge of child language acquisition for these two cases. More importantly, these results show that just where linguistic theories admit to highly irregular subportions, we can apply efficient automata-theoretic learning algorithms. Since the algorithm works only for fragments of language syntax, we do not believe that it suffices for all of language acquisition. Rather, we would claim that language acquisition is nonuniform and susceptible to a variety of acquisition strategies; this algorithm may be one these.     

Performance Estimation of Task Graphs Based on Path Profiling

Correctly estimating the speed-up of a parallel embedded application is crucial to efficiently compare different parallelization techniques, task graph transformations or mapping and scheduling solutions. Unfortunately, especially in case of control-dominated applications, task correlations may heavily affect the execution time of the solutions and usually this is not properly taken into account during performance analysis. We propose a methodology that combines a single profiling of the initial sequential specification with different decisions in terms of partitioning, mapping, and scheduling in order to better estimate the actual speed-up of these solutions. We validated our approach on a multi-processor simulation platform: experimental results show that our methodology, effectively identifying the correlations among tasks, significantly outperforms existing approaches for speed-up estimation. Indeed, we obtained an absolute error less than 5 % in average, even when compiling the code with different optimization levels.     

Phenolic resins: 100 Years and still going strong

After 100 years phenolic resins continue to be a prominent resin system with an impressive worldwide volume of nearly 6 million tons/year. It is a ubiquitous adhesive for a diverse spectrum of materials such as wood, glass, metal, paper and rubber with several of these applications being developed by Baekeland during the early stages of his resin commercialization. Many recent technical conferences have been held and were identified with important early Baekeland advances such as Baekeland 2007, Baekeland 2009 and the more recent Baekeland 2011 – all commemorating different initial activities of Baekeland and centennial recognition of his 1907 patent, first production of phenolic resin in Erkner, Germany in 1909 and the centennial celebration of the production of phenolic resin in Japan in 1911. This presentation provides an overview and evaluation of large volume application markets for resole and novolak resins in 2011 and comments related to anticipated greater growth of novolak resins over resole resins. Both resole and novolak resins are viewed as reactive intermediates that undergo a variety of chemical transformations into various improved and in many instances upgraded resin systems that lead to both recognizable and newly reactive resins for value added products. New areas involving phenolic resins are described and consist of Phenol Resorcinol Formaldehyde (PRF) resins, Nanomodification, Novel Novolak Process, ionic liquids, Phenolic Hybrids, and Poly Aryl Ether Amide based on novolak and phenylene bisoxazoline (PBO).     

The Case for Polymorphic Registers in Dataflow Computing

Heterogeneous systems are becoming increasingly popular, delivering high performance through hardware specialization. However, sequential data accesses may have a negative impact on performance. Data parallel solutions such as Polymorphic Register Files (PRFs) can potentially accelerate applications by facilitating high-speed, parallel access to performance-critical data. This article shows how PRFs can be integrated into dataflow computational platforms. Our semi-automatic, compiler-based methodology generates customized PRFs and modifies the computational kernels to efficiently exploit them. We use a separable 2D convolution case study to evaluate the impact of memory latency and bandwidth on performance compared to a state-of-the-art NVIDIA Tesla C2050 GPU. We improve the throughput up to 56.17X and show that the PRF-augmented system outperforms the GPU for \(9\times 9\) or larger mask sizes, even in bandwidth-constrained systems.     

PHENOLIC RESINS AND THE PLASTICS INDUSTRY:YESTERDAY,TODAY,AND TOMORROW

During 2010,Phenolic Resins celebrate 100years of existence.Dr.Leo Baekeland began commercial production of phenolic resins in May 1910 in Germany and October 1910 in the United States.This activity launched the Plastics Industry as it is recognized today.It is estimated that about 255 million tons of plastics will be produced worldwide in 2010 and consist of thermoplastic,thermosetting and elastomeric materials.Some of these polymeric materials are further transformed into fiber reinforced plastics (FRP) utilizing fibers such as carbon fiber,glass fiber,and organic fibers such as Kevlar,Spectra (ultrahigh molecular weight polyethylene) and others.     

Thick composite design for hydrogen vessels: A contribution to composite design method

Hydrogen stock vessels add new product specifications because of higher pressure use. Today static application leads up to 700 bars. But pressure devices must resist, because of certification, at 3 times pressure (2100 bars). Composite vessels give material–structure potential solutions. But designers face limits of knowledge due to actual good practices of thick composite structures use. This paper presents levels of knowledge enrichment for designers (multi-scale experiments and models), analysis of process influence on models improvement, and a discussion for an efficient testing strategy (meaning virtual testing in order to reduce the number of tests and their costs).     

Morphology and thermal characterization of nanographene platelets

This study summarizes our current research in using different types of nanographene platelets (NGPs) to create polymer–graphene nanocomposites for selective laser sintering manufacturing application. This article describes five NGPs that were available to our research group. Morphological characterization of their microstructures was examined using scanning electron microscopy. Thermal characterization of these NGPs was conducted using thermogravimetric analysis. Kinetics of these NGPs was calculated using the isoconversion technique. Similarities and differences of these NGPs were drawn from the above measurements and calculations. Two NGPs were selected for further studies.     

Exploring the Assembly of Resorc[4]arenes for the Construction of Supramolecular Nano-Aggregates

Many biologically active compounds feature low solubility in aqueous media and, thus, poor bioavailability. The formation of the host-guest complex by using calixarene-based macrocycles (i.e., resorcinol-derived cyclic oligomers) with a good solubility profile can improve solubilization of hydrophobic drugs. Herein, we explore the ability of resorc[4]arenes to self-assemble in polar solutions, to form supramolecular aggregates, and to promote water-solubility of an isoflavone endowed with anti-cancer activity, namely Glabrescione B (GlaB). Accordingly, we synthesized several architectures featuring a different pattern of substitution on the upper rim including functional groups able to undergo acid dissociation (i.e., carboxyl and hydroxyl groups). The aggregation phenomenon of the amphiphilic resorc[4]arenes has been investigated in a THF/water solution by UV–visible spectroscopy, at different pH values. Based on their ionization properties, we demonstrated that the supramolecular assembly of resorc[4]arene-based systems can be modulated at given pH values, and thus promoting the solubility of GlaB.