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.     

改性防护蜡对轮胎胎侧胶性能的影响

研究改性防护蜡对轮胎胎侧胶性能的影响。结果表明,与传统防护蜡相比,改性防护蜡异构烷烃质量分数较小,结晶尺寸小且致密程度高。改性防护蜡可在不影响胎侧胶硫化特性和物理性能的前提下,大幅提高胎侧胶抗喷霜性能,保证轮胎表面不受臭氧侵蚀,在防止裂纹产生的同时明显改善成品轮胎外观。     

Copper–4,4′-dipyridyl coordination compound as solid reagent for spectrophotometric determination of reducing sugar employing a multicommutation approach

In this work a multicommuted flow system employing copper–4,4′- dipyridyl coordination compound as the solid-phase reagent for the spectrophotometric determination of reducing sugar was developed. The coordination compound was synthesized through a reaction of the 4,4′-dipyridyl and copper (II) nitrate, under hydrothermal conditions. The complex was characterized by infrared spectroscopy (FTIR), power X-ray diffraction (XRD), scanning electron microscopy (SEM), energy dispersive spectrometer (EDS) and thermogravimetric analysis (TGA). Based on the characterization, a multicommuted spectrophotometric procedure for the determination of reducing sugar using copper (II) complex as solid reagent is proposed. The proposed method was based on the redox reaction between a monosaccharide, such as fructose and glucose (reducing sugar) and Cu(II). This reaction, mediated in an alkaline medium, produces a yellow compound that can be determined by absorption electronic spectroscopy (λ_ABS = 420 nm). Under optimum experimental conditions, a linear response ranging from 1.0 to 20.0 g L⁻¹ (R = 0.9978 and n = 5), a detection (3σ criterion) and quantification (10σ criterion) limit estimated at 0.23 and 0.75 g L⁻¹, respectively, a standard deviation relative of 4.7% (n = 7), for a reference solution of 10.0 g L⁻¹ reducing sugar, and a sampling rate of 75 determinations per hour were achieved. The proposed system was applied to the determination of reducing sugars in coconut water and juices. The analysis of ten samples and the application of the t-test to the results found, and those obtained using reference procedures (AOAC), provided no significant differences at a 95% confidence level. This system enabled the analysis of reducing sugar with ease and simplicity, providing a significant economy of the solid reagent (600 μg per determination) and reducing effluent generation.     

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。     

卫星激光通信粗跟踪系统复合控制策略

针对卫星激光通信粗跟踪系统的跟踪稳定精度指标要求高的特点,建立了基于永磁同步电机直接驱动的粗跟踪系统模型并进行了跟踪稳定误差分析。在采用传统PID控制策略存在跟踪误差较大、动态性能较差等不足的基础上,提出了一种基于粗跟踪系统的改进型前馈复合控制策略。从理论上分析了前馈复合控制策略提高了粗跟踪系统的动态性能,为降低跟踪稳定误差提供了改善方案。地面实验验证结果表明,与传统控制策略相比,改进型复合控制策略极大地降低了系统的动态跟踪误差,动态跟踪误差由606μrad降低至13μrad(1δ)。进一步的在轨实验也验证了改进型复合控制策略的合理性和先进性,总体指标满足了卫星激光通信终端的极高精度要求。本文所提出的控制策略对其他高性能跟踪伺服系统设计也具有较大的借鉴意义。     

不同有机物对硝酸盐氮测试的影响

研究了红糖、葡萄糖、乙酸钠、甲醇、乙醇、乙酸、丙酸、丁酸、正戊酸、混合有机溶剂等10种不同有机物对麝香草酚光谱法和离子色谱法测试硝酸盐氮的影响。结果表明,溶液中含有红糖或葡萄糖时,均会对麝香草酚法测试硝酸盐氮造成影响,使得测试结果偏大;在无硝酸根离子存在时,红糖和葡萄糖的质量浓度与硝酸盐氮的测试浓度非线性相关;而乙酸钠、甲醇、乙醇、乙酸、丙酸、丁酸、正戊酸和混合有机溶剂则对麝香草酚法测试硝酸盐氮没有影响。实验发现,红糖和葡萄糖在浓硫酸的作用下与麝香草酚发生Molisch反应,形成有色复合物和红棕色不溶性沉淀。实验采用离子色谱法测试硝酸盐氮时,红糖和葡萄糖等糖类有机物对测试结果均无影响。     

有植被的河道水流紊动特性模型试验研究

通过物理模型试验,研究了有植被的河道水流紊动特性.试验结果表明,在复式断面河道滩地种植柔性植被后,滩地糙率增大,水流紊动更为剧烈,河道水流紊动强度峰值由原先的滩槽交界区转移到滩地区.滩地的水流紊动强度沿程递减;滩槽交界区的水流紊动强度沿程不断增大;主槽的水流紊动强度主要与床面糙率有关,滩地植被影响了滩地水流的归槽时间,使主槽水流流速沿程增大.