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.     

Agro-Waste Generated Pd/CAP-Ash Catalyzed Ligand-Free Approach for Suzuki–Miyaura Coupling Reaction

Catalysis Letters - We converted agro-waste Custard Apple Peels (CAP) to ash via thermal treatment, on which Pd(OAc)2 was immobilized easily that produced a low-cost, highly efficient Pd/CAP-ash...     

Tests of a Two-Stage Core at the KV-1 Test Facility: Physical Aspects and Results

Atomic Energy - The physical aspects and main results of reactor tests of a two-stage core consisting of fresh fuel assemblies and a significant number of fuel assemblies from the previous core,...     

Scanning Protein Surfaces with DNA-Encoded Libraries

Understanding the ligandability of a target protein, defined as the capability of a protein to bind drug-like compounds on any site, can give important stimuli to drug-development projects. For instance, inhibition of protein–protein interactions usually depends on the identification of protein surface binders. DNA-encoded chemical libraries (DELs) allow scanning of protein surfaces with large chemical space. Encoded library selection screens uncovered several protein–protein interaction inhibitors and compounds binding to the surface of G protein-coupled receptors (GPCRs) and kinases. The protein surface-binding chemotypes from DELs are predominantly chemically modified and cyclized peptides, and functional small-molecule peptidomimetics. Peptoid libraries and structural peptidomimetics have been less studied in the DEL field, hinting at hitherto less populated chemical space and suggesting alternative library designs. Roughly a third of bioactive molecules evolved from smaller, target-focused libraries. They showcase the potential of encoded libraries to identify more potent molecules from weak, for example, fragment-like, starting points.     

Various Types of Combustion of a Ti + C Granular Mixture with a Different Content of the Gasifying Additive

Combustion, Explosion, and Shock Waves - This paper touches upon the effect of a polyvinyl butyral content (0–2.3%) on the combustion of a Ti + C granular...     

Analysis of ZTE MRI application to sandstone and carbonate

Microtomography (μCT) and nuclear magnetic resonance (NMR) have been used to characterize porous media for decades. Magnetic resonance imaging (MRI) enables direct visualization of pore architecture and many pulse sequences exist. In this work, we tested the MRI pulse sequence Zero Echo Time (ZTE) to study sandstone and carbonate for its ability to address short relaxation times. We aimed at resolving two fluid conduit scales, that is, pores and fractures. In this research, we study tighter porous systems than those previously reported using ZTE. Additionally, pore cluster analysis (PCA), combined with ZTE, can be used to analyze pore-fracture connectivity of relatively large core plugs. We show that ZTE can resolve two-scale pore systems simultaneously, that is, fractures and pores. By combining time-domain NMR pore-size analysis and PCA, we show that careful selection of resolution is necessary to understand transport in porous media.     

Thermal depolarization and electromechanical hardening in Zn2+-doped Na1/2Bi1/2TiO3-BaTiO3

Na_1/2Bi_1/2TiO₃-based materials have been earmarked for one of the first large-volume applications of lead-free piezoceramics in high-power ultrasonics. Zn²⁺-doping is demonstrated as a viable route to enhance the thermal depolarization temperature and electromechanically harden (1-y)Na_1/2Bi_1/2TiO₃-yBaTiO₃ (NBT100yBT) with a maximum achievable operating temperature of 150 °C and mechanical quality factor of 627 for 1 mole % Zn²⁺-doped NBT6BT. Although quenching from sintering temperatures has been recently touted to enhance T_F-R, with quenching the doped compositions featuring an additional increase in T_F-R by 17 °C, it exhibits negligible effect on the electromechanical properties. The effect is rationalized considering the missing influence on conductivity and therefore, negligible changes in the defect chemistry upon quenching. High-resolution diffraction indicates that Zn²⁺-doped samples favor the tetragonal phase with enhanced lattice distortion, further corroborated by ²³Na Nuclear Magnetic Resonance investigations.     

Some Molecular and Cellular Stress Mechanisms Associated with Neurodegenerative Diseases and Atherosclerosis

Chronic stress is a combination of nonspecific adaptive reactions of the body to the influence of various adverse stress factors which disrupt its homeostasis, and it is also a corresponding state of the organism’s nervous system (or the body in general). We hypothesized that chronic stress may be one of the causes occurence of several molecular and cellular types of stress. We analyzed literary sources and considered most of these types of stress in our review article. We examined genes and mutations of nuclear and mitochondrial genomes and also molecular variants which lead to various types of stress. The end result of chronic stress can be metabolic disturbance in humans and animals, leading to accumulation of reactive oxygen species (ROS), oxidative stress, energy deficiency in cells (due to a decrease in ATP synthesis) and mitochondrial dysfunction. These changes can last for the lifetime and lead to severe pathologies, including neurodegenerative diseases and atherosclerosis. The analysis of literature allowed us to conclude that under the influence of chronic stress, metabolism in the human body can be disrupted, mutations of the mitochondrial and nuclear genome and dysfunction of cells and their compartments can occur. As a result of these processes, oxidative, genotoxic, and cellular stress can occur. Therefore, chronic stress can be one of the causes forthe occurrence and development of neurodegenerative diseases and atherosclerosis. In particular, chronic stress can play a large role in the occurrence and development of oxidative, genotoxic, and cellular types of stress.