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.     

靶面激光光斑尺寸原位测量的研究

提供了一种简便易行的靶面激光光斑尺寸原位测量的方法。从高斯光束的横向光强分布特性出发,建立了激光烧蚀斑半径与辐照激光能量、光斑尺寸、烧蚀阈值间的关系式,模拟分析发现辐照激光光斑尺寸对烧蚀斑半径随辐照能量变化曲线有较大影响。对于脉宽为2 ms,波长为1064 nm的激光,实验测量了不同能量激光辐照下相纸烧蚀斑半径,并用推导出的关系式拟合测量数据,获得了靶面处光斑尺寸和样品烧蚀阈值。同时,也测量了不同位置处的光斑尺寸和样品烧蚀阈值,对高斯光束束腰位置和样品烧蚀阈值的光斑尺寸效应进行了验证。研究结果表明该技术结果可靠,简单高效。该技术可以为高能激光与固体物质相互作用的基础研究和激光加工等应用领域中实现简单方便地测量靶面光斑尺寸提供帮助。     

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.     

基于关键路径延时检测的自适应电压缩减技术

为了减小传统的最差情况设计方法引入的电压裕量,提出了一种变化可知的自适应电压缩减(AVS)技术,通过调整电源电压来降低电路功耗.自适应电压缩减技术基于检测关键路径的延时变化,基于此设计了一款预错误原位延时检测电路,可以检测关键路径延时并输出预错误信号,进而控制单元可根据反馈回的预错误信号的个数调整系统电压.本芯片采用SMIC180 nm工艺设计验证,仿真分析表明,采用自适应电压缩减技术后,4个目标验证电路分别节省功耗12.4％,11.3％,10.4％和11.6％.     

含煤盆地深层“超饱和”煤层气形成条件

中国深层煤层气资源丰富，但总体勘探和认识程度较低，尚未形成较为系统的深层煤层气地质理论。通过解剖分析准噶尔盆地白家海凸起和鄂尔多斯盆地临兴区块深层"超饱和"煤层气井的试气/生产动态，估算原地游离气的含气量，分析了深层"超饱和"煤层气的形成条件。研究表明：①深层"超饱和"煤层气储层中除吸附气外，还含有原地游离气，用常规试气方法可直接获得气流，煤层气的产出不明显依赖于排水降压；②埋藏超过一定深度，在煤阶和温度的综合作用下，煤的吸附能力将随埋深的继续增加而降低，煤层中吸附气的饱和度有增加的趋势，在达到吸附饱和后，出现原地游离气并形成"超饱和"煤层气，盆地深层具有"超饱和"煤层气形成的优势条件；③由于地温梯度和压力梯度的不同，不同盆地"超饱和"煤层气出现的临界深度不同，异常高压和异常高热流可以降低深层"超饱和"煤层气形成的临界深度；④深层"超饱和"煤层气开发具有大大缩短见气时间、充分利用地层能量和累积产水量低等优势，有望成为未来煤层气勘探开发的一个重要领域。     

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.