Challenges in providing residual risks in carrier testing

The probability an individual is a carrier for a recessive disorder despite a negative carrier test, referred to as residual risk, has been part of carrier screening for over 2 decades. Residual risks are calculated by subtracting the frequency of carriers of pathogenic variants detected by the test from the carrier frequency in a population, estimated from the incidence of the disease. Estimates of the incidence (and therefore carrier frequency) of many recessive disorders differ among different population groups and are inaccurate or unavailable for many genes on large carrier screening panels for most of the world's populations. The pathogenic variants detected by the test and their frequencies also vary across groups and over time as variants are newly discovered or reclassified, which requires today's residual carrier risks to be continually updated. Even when a residual carrier risk is derived using accurate data obtained in a particular group, it may not apply to many individuals in that group because of misattributed ancestry or unsuspected admixture. Missing or inaccurate data, the challenge of determining meaningful ancestry-specific risks and applying them appropriately, and a lack of evidence they impact management, suggest that patients be counseled that although carrier screening may miss a small fraction of carriers, residual risks with contemporary carrier screening are well below the risk posed by invasive prenatal diagnosis, even if one member of the couple is a carrier, and that efforts to provide precise residual carrier risks are unnecessary.     

舰船装备的高强度冲击试验

对舰船装备进行冲击试验的目的是检验战时环境下装备承受核武器和常规武器产生的冲击载荷的能力。论述了冲击环境效应,舰船装备的抗冲击级别、安装类别、冲击试验类型、安装部位分类、冲击试验设备与试验、冲击试验用安装架、抗冲击设计和安装等要求。     

磁性载体生物膜反应器处理生活污水的试验研究

选取天然多孔矿物-浮石、网络状塑料外壳、磁铁为材料,开发出一种新型磁性载体,并将该载体应用于生物膜反应器中进行废水处理试验,结果表明:该磁性载体生物膜反应器在载体的挂膜性能及主要污染物去除功能上均优于非磁性载体生物膜反应器.磁性载体可在5d内完成挂膜,而非磁性载体则需8d,磁性载体生物膜反应器对COD、NH+ 4-N的去除率比非载体生物膜反应器分别高出5%和20%左右.在载体中心磁场强度为200Gs,水中溶解氧DO为2.0~3.5mg/L,水力停留时间HRT为5h的条件下,校园生活污水经磁性载体生物膜反应器处理后,出水中COD稳定在20mg/L左右, NH4+-N在5mg/L以下,两者的去除率均在90%左右,出水总氮为15mg/L,去除率在50%以上.实验结果还表明:连续运行60d后,磁性载体反应器内的生物膜量和悬浮污泥量仅为非磁性载体反应器的70%,说明磁场的存在有利于污泥减量化.磁载体生物膜反应器中载体外表面附着污泥及生物膜的SOUR值均大于非磁载体生物膜反应器,表明一定的磁场强度可以提高微生物活性.     

基于双论域粗糙集的大学生综合成绩影响因素研究

利用双论域粗糙集理论,从个人、家庭、学校、社会四个方面对大学生综合成绩的影响因素进行了研究。对问卷调查获取到的大学生综合成绩与影响因素的数据进行了相关性分析,得到了综合成绩和影响因素之间的二元关系;然后利用双论域粗糙集的规则提取算法,分别获得了由综合成绩导出影响因素以及由影响因素确定综合成绩的规则。     

International perspectives on the implementation of reproductive carrier screening

Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.     

生物炭载体的表面特征和挂膜性能研究

以花生壳为原料,于300~700℃下热解制备生物炭以作为生物膜载体,对其进行了理化性质表征和挂膜试验.结果表明:较高的热解温度(700℃)能促进生物炭载体孔隙结构发展,生物炭表面ζ电位上升,亲水性增加,从而有利于污水微生物的附着和生长. 挂膜期间,生物炭载体单位挂膜量分别高出陶粒44%~84%,高温(700℃)生物炭载体生物膜对NH4+-N的去除率高出陶粒1%~3%,而中低温(300、500℃)生物炭载体生物膜对NH4+-N的去除率较陶粒低5%~10%,显示生物炭表面理化性质可能对附着的生物膜微生物种类和活性产生影响.     

以PHBV为碳源和生物膜载体的生物反硝化研究

采用了一种可生物降解聚合物(BDP)聚羟基丁酸戊酸酯(PHBV)作为碳源和生物膜载体去除水体中的硝酸盐.结果表明:以PHBV为碳源和载体的反硝化系统启动时间短,硝酸盐氮(NO3--N)去除率高于93%;水力停留时间(HRT)对反硝化效果影响显著,但反硝化系统对进水硝酸盐氮负荷具有较好的抗冲击能力;出水DOC(溶解性有机碳)浓度低于27.5mg/L,表明PHBV具有一定的控释碳源的能力;反应器不同高度脱氮效果差异显著,反应器中层(10-15cm) 处获得最大NO3--N去除率.     

Expanded carrier screening: What conditions should we screen for?

Carrier screening tests reproductive couples for their risk of having children affected by serious monogenic conditions. Carrier screening has historically been offered for certain conditions in high-risk populations. However, more recent evidence has shown that offering carrier screening to all patients, regardless of their ethnicity, more effectively and equitably identifies at-risk couples. Coupled with technology that enables screening for a nearly unlimited number of conditions, this expanded carrier screening (ECS) approach is now supported by professional society guidelines. Despite recent recommendations by the American College of Medical Genetics and Genomics to screen all patients who are pregnant or considering pregnancy for 113 conditions, questions remain about what conditions should be included on a core ECS panel. Here, we briefly review the history of carrier screening and guidelines on criteria for panel design. We then suggest which of these criteria are most critical, as well as thresholds to identify which conditions meet these criteria. Based on these interpretations, we recommend a core panel of 64 conditions that would identify the vast majority of at-risk couples. Widespread adoption of a core panel such as this would result in a marked improvement in the number of patients currently receiving comprehensive carrier screening.     

Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?

The cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false-negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman.     

CANON生物膜载体储存及活性恢复研究

采用不同活性恢复手段研究了短期低温（20d,15℃）储存及常温（25℃）低负荷运行后,CANON-MBBR反应器的活性恢复效果.结果显示,CANON悬浮载体经短期低温储存后,通过先恢复温度后缓慢提高进水负荷的方式可使其TN去除负荷恢复率达到102%.若在温度未恢复的基础上直接将进水负荷提升至原水平运行,CANON悬浮载体生物膜将无法维持正常的EPS含量而易发生脱膜现象,致使TN去除负荷恢复率仅为84%.另外,系统有一定基质浓度的基础上,经过25d常温（25℃）低负荷SBR运行后,通过同样的恢复手段可使TN去除负荷恢复率达到96%.通过微生物菌群分析,确定CANON-MBBR系统中功能微生物优势菌属分别为Nitrosomonas和Candidatus Kuenenia,采取合适的恢复手段使系统进入稳定运行阶段后,两者丰度均可分别达到11%以上及27%以上,且悬浮载体脱膜并未对微生物组成造成明显影响.