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.     

Development and characterisation of microporous biomimetic scaffolds loaded with magnetic nanoparticles as bone repairing material

Fine-tuning of the scaffolds structural features for bone tissue engineering can be an efficient approach to regulate the specific response of the osteoblasts. Here, we loaded magnetic nanoparticles aka superparamagnetic iron oxide nanoparticles (SPIONs) into 3D composite scaffolds based on biological macromolecules (chitosan, collagen, hyaluronic acid) and calcium phosphates for potential applications in bone regeneration, using a biomimetic approach. We assessed the effects of organic (chitosan/collagen/hyaluronic acid) and inorganic (calcium phosphates, SPIONs) phase over the final features of the magnetic scaffolds (MS). Mechanical properties, magnetic susceptibility and biological fluids retention are strongly dependent on the final composition of MS and within the recommended range for application in bone regeneration. The MS architecture/pore size can be made bespoken through changes of the final organic/inorganic ratio. The scaffolds undertake mild degradation as the presence of inorganic components hinders the enzyme catalytic activity. In vitro studies indicated that osteoblasts (SaOS-2) on MS9 had similar cell behaviour activity in comparison with the TCP control. In vivo data showed an evident development of integration and resorption of the MS composites with low inflammation activity. Current findings suggest that the combination of SPIONs into 3D composite scaffolds can be a promising toolkit for bone regeneration.     

Phenolic profiling reveals the metabolite basis of flesh colour and fresh-cut browning in apple fruit

Flesh colour, which is affected by cultivars and browning, can largely impact consumer acceptance in fresh-cut apples. The study profiled phenolic metabolites from apple flesh of twenty-three cultivars by widely targeted metabolomics. Comparison among white- and yellow-fleshed cultivars showed fifteen phenolics, mainly quercetin 3-O-glucoside, hyperoside, hesperetin 5-O-glucoside and cymaroside, in white-fleshed apples were significantly higher than those in yellow-fleshed apples. It may indicate a metabolite basis of yellow and white flesh colour, and better potential nutrition in white-fleshed apples. In addition, ten phenolic metabolites including five cyanidin glycosides showed significant differences between the highest and the lowest browning groups, indicating them may be crucial in browning of fresh-cut apple. This work elucidates the differences of phenolic profiles among apple cultivars with different flesh colour and provides useful data to evaluate the suitability of apple for fresh-cut processing.     

Auto-thermal reforming of acetic acid for hydrogen production by ZnxNiyCrOm±δ catalysts: Effect of Cr promoted Ni-Zn intermetallic compound

A series of Zn_xNi_yCrO_m±δ catalysts were synthesized via a typical co-precipitation method, in which Zn-Cr layered double hydroxides (LDHs) were found and Ni-Zn intermetallic compound (IMC) was formed after reduction in hydrogen. During auto-thermal reforming (ATR) of acetic acid (HAc), the Ni-Zn IMC was transformed into Ni/(amorphous-ZnO)-ZnCr₂O₄ species with uniformed distribution and appropriate interaction within these Ni-Zn-Cr-O species; besides, the adsorbed oxygen promoted the activation and transfer of oxygen species; therefore, deactivation by oxidation, sintering and coking was inhibited. And the optimized Zn_2.37Ni_0.63CrO_4.5±δ catalyst presented high activity and stability in a 45-h ATR test with HAc conversion near 100% and hydrogen yield at 2.7 mol-H₂/mol-HAc, showing potential for hydrogen production via ATR of HAc.     

Synthesis and characterization of Co5Cr2(P2O7)4 - New pyrophosphate as a colouring substance

A new pyrophosphate(V) of the formula Co₅Cr₂(P₂O₇)₄ was obtained in the system Co₂P₂O₇–Cr₄(P₂O₇)₃ as a result of solid-state reactions taking place between different reactants. The new compound crystallizes in the orthorhombic system and belongs to the family of pyrophosphates of the general formula M₅²⁺M₂³⁺(P₂O₇)₄ and is probably isostructural with Fe₅²⁺Fe₂³⁺(P₂O₇)₄. Powder diffraction pattern, infrared spectrum and SEM image of the new compound were presented. As a new potential inorganic pigment, Co₅Cr₂(P₂O₇)₄ was tested for its thermal stability, particle size distribution and colour properties, which were studied both for powder and after introduction into organic matrix and leadless ceramic glaze. The colour of Co₅Cr₂(P₂O₇)₄ powder was defined as deep grey with the colour coordinates L*/a*/b* = 60.63/-1.42/-3.41 and according to the hue angle (h° = 247.39°) it belongs to the blue region. Co₅Cr₂(P₂O₇)₄, with its relatively high thermal stability (t _m = 1230 ± 10 °C) and appropriate colour properties, is a good candidate to be used as inorganic pigment for colouring of acrylic paints. In the case of leadless glaze, the obtained compound acts as a dye.     

煤矿冲击地压与冒顶复合灾害研究

随着煤矿向深部发展,矿井动力灾害既表现出冲击地压的部分特征,又表现出冒顶的部分特征。2种典型的灾害打破以往冒顶与冲击地压的发生具有一种互为逆向性的认知规律,在深部高应力煤巷,特别是留顶煤巷道中出现了相互诱导、复合发生的新灾害类型。在总结山东、山西和新疆矿区典型巷道冲击致顶板(顶煤)动力灾害特征的基础上,提出了深部巷道冲击地压与冒顶复合灾害的概念、机理与分类,指出复合灾害机理关键点在于揭示巷道整体系统和破碎区子系统的稳定原理及其2者间的相互影响。建立了巷道发生复合灾害的力学模型,根据扰动响应失稳判据,提出并得到了巷道发生复合灾害的临界应力Pcr、临界软化区半径ρ_cr和最大容许采扰应力增量σ_max,厘清了灾害发生的主控因素,分析了煤岩冲击倾向指数K、支护强度ps、巷道半径ρ₀、煤岩强度σ_c等对灾害发生的影响规律,同时阐明了围岩塑性软化、破碎深度随地应力增加的发育规律。研究结果表明,破碎发育巷道的动力失稳主体为弹性区、软化区与破碎区构成的不稳定系统,垮落主体为破碎区;稳定的破碎区提升了巷道冲击启动临界值,使其启动难度增大,但破碎区的发育又易引起顶煤垮落;巷道稳定支护是解决复合灾害的关键,科学合理支护既能有效调控围岩破碎防冒,又能提升冲击启动临界值。通过理论研究,揭示了巷道冲击地压与冒顶复合灾害的发生机理,阐明了巷道软化与破碎区及其稳控支护对深部破碎发育巷道动力灾害防治的重要性。     

Crystallization behavior and density functional theory study of solution combustion synthesized silicon doped calcium phosphates

The influence of heat-treatment temperatures (700 °C, 900°C, 1200 °C) on the phase, physical properties, crystallization rate, and in vitro properties of the solution combustion synthesized silicon-doped calcium phosphates (CaPs) were investigated. The thermodynamic aspects (enthalpy, entropy, and free energy) of the synthesis process and the crystallographic properties of the final samples were first predicted and then confirmed using density functional theory (DFT). Results demonstrated that the crystallization rate was controlled by the fuel(s) type (glycine, citric acid, and urea) and the amounts of Si⁴⁺ ions (0, 0.1, 0.4 mol). The highest calculated crystallization rate values of the un-doped, 0.1, and 0.4 mol Si-doped samples were 64%, 22%, 38%, respectively. The obtained results from the DFT simulation revealed that crystal growth in the direction of c-axis of hydroxyapatite (HAp) structure could change the stability of (001) surface of (HAp). Also, the computational data confirmed the adsorption of Si–OH groups on the (001) surface of HAp during the SCS process with an adsorption energy of 1.53 eV. AFM results in line with DFT simulation showed that the observed change in the surface roughness of Si-doped CaPs from 2 to 8 nm could be related to the doping of Si⁴⁺ ions onto the surface of CaPs. Besides, the theoretical and experimental investigation showed that crystal growth and doping of Si⁴⁺ ions could decrease the activation energy of oxygen reduction reaction (ORR). Furthermore, the results showed that the crystallized HAp structure could have great potential to efficiently reduce oxidative stress in human body.     

Extraction equilibrium conditions of beryllium and aluminium from a beryl ore for optimal industrial beryllium compound production

This study examines the extraction of beryllium and aluminium from a Nigerian beryl ore using Cyanex®272 in kerosene from an aqueous sulphate pregnant solution. Parameters such as extractant concentration and equilibrium pH that dictates the extraction yield were studied. Under the following conditions: temperature 27?±?2°C, phase ratio 1?1, about 45.50 and 46.76% of beryllium and aluminium were extracted by 0.15?mol?L^?1 Cyanex®272 concentration within 30?min. However, the extraction yield of beryllium and aluminium was increased to 91.68% and 97.89% at equilibrium pH of 3 and 4, respectively, for beryllium and aluminium at 27?±?2°C. A 0.05?mol?L^?1 H₂SO₄ solution was found to be adequate for the stripping of about 99.00% Be and 95.40% Al from the loaded organic phase. The pure solutions containing metal ions were accordingly beneficiated to obtain beryllium and aluminium compounds of industrial values.     

Measurements and modeling of absorptive partitioning of volatile organic compounds to painted surfaces

Partitioning to surfaces is an important sink for volatile organic compounds (VOCs) indoors, but the mechanisms are not well understood or quantified. Here, a mass spectrometer was coupled to a portable surface reactor and a flow tube to measure partitioning of VOCs into paint films coated onto glass or wallboard, and their subsequent diffusion. A model was developed to extract values of the effective absorbing organic mass concentration of the film, C_w, which is a measure of absorption capacity, and VOC diffusion coefficients, D_f, from VOC time profiles measured during film passivation and depassivation. Values of C_w agreed well with the value estimated from the paint film mass and flow tube air volume, and D_f values (also measured using attenuated total reflectance-Fourier transform infrared spectroscopy) correlated well with VOC vapor saturation concentrations, C*, estimated using a group contribution method. The value of these relationships for estimating key parameters that control VOC partitioning into paint and the fate of VOCs indoors was demonstrated using a house model, which indicated that >50% of VOCs with C* ≤10⁸ μg/m³ (C* of octane, hexanone, and propanol) that contacted a paint film of typical thickness fully permeated the film regardless of emission duration.     

Coenzyme Q10 supplementation: Efficacy,safety, and formulation challenges

World population growth and aging are posing unprecedented challenges in sustaining the health of 9.1 billion people that will be occupying the planet by 2050. Although noncommunicable diseases such as cardiovascular and neurodegenerative diseases, cancer, and diabetes are among the top 10 global causes of death, they can be prevented by risk factor reduction, early detection, and adequate treatment. Since a healthy diet along with dietary supplementation could play an important role to reduce morbidity and cut off its associated health care costs, research in the food and nutrition area is required to find solutions to global challenges affecting health. As a result of the healthy living trend, dietary supplements category is growing fast, leading to an urgent need for dietitians, physicians, and policy makers to broaden the scientific evidence on the efficacy and safety of a wide range of active ingredients. Coenzyme Q10 (CoQ10), as the third most consumed dietary supplement, and as a potential candidate for the treatment of various noncommunicable diseases that are among the global top 10 causes of death, has gained interest over years. Scientific evidence regarding mainly CoQ10 efficacy and safety, as well as formulation challenges, is addressed in this review.