The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

Recently, we have witnessed the rapid translation into clinical practice of non-invasive prenatal testing for the common aneuploidies, most notably within the United States and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with high/medium-risk pregnancies identified by serum screening and/or ultrasound scanning. Uptake has been impressive, albeit limited to the commercial sector. However, non-invasive prenatal diagnosis (NIPD) for single-gene disorders has attracted less interest, no doubt because this represents a much smaller market opportunity and in the majority of cases has to be provided on a bespoke, patient or disease-specific basis. The methods and workflows are labour-intensive and not readily scalable. Nonetheless, there exists a significant need for NIPD of single-gene disorders, and the continuing advances in technology and data analysis should facilitate the expansion of the NIPD test repertoire. Here, we review the progress that has been made to date, the different methods and platform technologies, the technical challenges, and assess how new developments may be applied to extend testing to a wider range of genetic disorders. © 2013 John Wiley & Sons, Ltd.     

畜禽源氨气排放因子估算方法研究

畜禽养殖过程中产生的氨气(NH_3)在人为源NH_3排放中所占的比重较大,对二次气溶胶的形成起重要作用.由于我国畜禽饲养品种多样,各地气候条件和饲养规模存在较大差异,且影响NH_3排放的因素复杂多变,因此,获得准确的畜禽NH_3排放因子较为困难.本文以山西省太原市及其周边地区典型猪场、鸡场、牛场、羊场为实验场所,以杜洛克猪与长白猪的杂交猪、海兰褐蛋鸡、白羽肉鸡、杜泊羊与晋中绵羊的杂交羊、中国黑白花奶牛、金色阿奎丹与西门塔尔杂交肉牛为研究对象,通过3种方法估算它们的NH_3排放因子.结果表明:基于日粮成分和氮代谢沉积率的粗蛋白估算法过程简单、计算便捷、适合所有种类的畜禽,但未考虑NH_3挥发过程中的吸收转化及施肥利用,因而误差较大;基于排泄物含氮率和NH_3挥发率的物质流法涉及粪肥管理的不同阶段,全面考虑了NH_3产生、损失的全过程,与实际情况接近,但参数较多、周期较长、计算过程复杂;基于畜禽舍内NH_3浓度的直接测量法数据来源可靠、参数少,但只能用于相对封闭的环境,不适合牛场和羊场等敞开或半敞开的圈舍,且该方法没有考虑粪尿离开畜禽舍以后的储藏、还田过程,计算结果偏小.通过3种方法的互相印证和比对,猪、奶牛、肉牛、羊、蛋鸡、肉鸡6种实验动物的NH_3排放因子分别为6.90、36.53、22.99、3.94、0.54、0.46 kg·头(只)~(-1)·a~(-1).本研究可以为我国畜禽源NH_3排放因子的本地化测定提供一定的参考,并为准确估算畜禽NH_3排放量、做好农业源NH_3排放清单编制和污染防治工作提供参考.     

Effects of sludge properties on the thickening and dewatering of waste activated sludge.

The thickening and dewatering of waste activated sludge, from a pilot-scale submerged membrane bioreactor and two bench-scale, complete-mix activated sludge reactors (high-shear and low-shear aeration) treating the same municipal primary effluent, were investigated. Solids settling and compaction were measured using the diluted sludge volume index (DSVI) analysis and a batch centrifugation analysis, respectively. Elevated levels of filamentous microorganisms resulted in higher DSVI values and lower centrifuged pellet concentration. Elevated levels of nocardioform bacteria resulted in lower solids float concentrations, and higher colloidal material reduced solids recovery in batch flotation experiments. Sludge filterability, measured as time-to-filter, was shown to be a function of extracelluar polymeric substances and colloidal material, where higher levels of either reduced sludge filterability. Additional research is necessary to confirm these results using full- or demonstration-scale thickening and dewatering units.     

Age and growth of co-occurring larvae of two flounder species,Rhombosolea tapirina and Ammotretis rostratus

Daily growth increments on otoliths were used to age larvae of the pleuronectid fluonders Rhombosolea tapirina Günther and Ammotretis rostratus Günther, collected from Port Phillip Bay, Victoria, Australia, in winter 1984. Daily formation of growth increments was confirmed for R. tapirina by examining the growth of the marginal increment on otoliths of larvae collected over two 24h periods in winter 1985. The first distinctive growth increment was laid down approximately 5 d after hatching, at the onset of external feeding. Growth of flounder larvae was exponential from an early feeding stage to notochord flexion at approximately 30 d after hatching. The specific growth rate was very similar for the two species, at slightly over 4% of standard length per day. Predicted absolute growth rate of R. tapirina larvae increased from approximately 0.10 mm d^-1 in early feeding larvae to approximately 0.23 mm d^-1 in flexion-stage larvae, compared with 0.12 to 0.28 mm d^-1 for A. rostratus larvae of equivalent ages. Exponential models did not adequately describe growth of first-feeding larvae, which was slower than predicted. Growth in the field was faster than that recorded for the same species in the laboratory at higher water temperatures and prey abundances. Otolith growth accelerated markedly in relation to growth in length at the beginning of metamorphosis, causing a significant alteration in the morphology of growth increments, and eventually leading to the cessation of production of visible increments.