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.     

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.     

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。     

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.     

MD膜驱剂的粘土稳定性研究Ⅰ.静态试验

粘土的膨胀和分散是引起地层伤害的两个重要因素。通过测定Zeta电位、XRD、悬浮液透光率、FT-IR考察了MD膜驱剂（MDFFA）对粘土稳定性的作用。结果表明，MDFFA的浓度低于0．3 mmol／g（以蒙脱土质量计）时，蒙脱土悬浮液Zeta电位的提高是由于膜驱剂分子的吸附改变了蒙脱土的层电荷；高于此浓度时，Zeta电位进一步提高是由于双电层的压缩。随着MDFFA浓度的增大，蒙脱土的完全膨胀层向部分膨胀层转化，并且经水冲洗、浸泡后，其XRD谱峰位置变化不大。较高浓度的MDFFA，能有效地抑制蒙脱土的分散，且不会形成对地层有害的絮凝体。MDFFA使蒙脱土层间水的含量明显降低。     

多区双重介质复合气藏渗流数学模型及其压力动态

四川盆地大多数气藏属于裂缝孔隙型气藏,气藏非均质性强.经典的径向均质复合试井解释模型与气藏实际情况不相符,解释结果与实际地质情况出现抵触现象.针对这种情况,建立了多区双重孔隙介质复合地层模型,求得了该模型的拉氏空间解,分析了其典型的压力动态特征,并对影响因素可能对曲线产生的影响进行了分析.     

对CFG桩质量缺陷的探讨

根据具体工程的概况及水文地质条件，分析了CFG桩在地下水位出现大面积缩颈现象和复合地基载荷试验达不到设计要求的原因，并介绍了地基补强措施，以满足工程质量的要求。