cfDNA screening and diagnosis of monogenic disorders – where are we heading?

Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma. Such relative haplotype dosage analysis requires the input of the parental haplotype information for interpretation of the fetal inheritance pattern from the maternal plasma DNA data. The parental haplotype information can be obtained by direct means, reducing the need to infer haplotypes using DNA from other family members. The technique also allows the assessment of complex mutations and has multiplexing capabilities where a number of genes and mutations can be assessed at the same time. These advantages allow non-invasive prenatal diagnosis of fetal monogenic diseases to be much more scalable. These applications may drive the next wave of clinical adoption of cell-free fetal DNA testing. © 2018 The Authors Prenatal Diagnosis Published by John Wiley & Sons Ltd     

Control of hydrogen sulphide in digestor gas using iron salts

Different dosages of ferrous chloride and ferric chloride were added to digestors separately, and the volumes of methane and hydrogen sulphide contained in the digestor gas (biogas) were monitored. It was noted that the effects of adding of 16, 18 and 32 kg ferrous chloride/ tonne volatile solids, and 16 and 18 kg ferric chloride/tonne volatile solids were similarly effective in controlling the hydrogen sulphide levels.

According to an average amount of undigested sludge (primary sludge mixed with surplus activated sludge) of 41 tonne volatile solids produced each day during the sewage treatment process in Shatin sewage treatment works, and the required dosage of 16 kg ferric chloride/ tonne volatile solids, the amount of iron salts required should be 656 kg/day or 3.3 mg/L for the actual application, based on an average sewage flow of 200,000 m³/day.     

Investigation of drinking water bacterial community through high-throughput sequencing

<正>Delivery of safe and pathogen-free drinking water is crucial to public health.However,there exist challenges to the maintenance of the sterility of drinking water throughout the drinking water distribution systems(DWDS).Microbial growth in DWDS,such as growth of opportunistic pathogenic microorganisms,can lead to severe health problems in consumers(Berry et al.,2006;Brettar and Hofle,2006;Lu et al.,2014;Zhang et al.,2015).     

Identification of a new Irgarol-1051 related s-triazine species in coastal waters

A previously unknown s-triazine species present in commercially available Irgarol-1051, a booster biocide additive in copper-based antifouling paints for the replacement of organotin-based antifoulants, has been identified in the coastal aquatic environment. After careful isolation, purification and characterization by high resolution MS-MS and (1)H NMR, the molecular structure of that unknown species is found to be N,N'-di-tert-butyl-6-methylthiol-s-triazine-2,4-diamine (designated as M3). Levels of Irgarol-1051, its major degradation product (M1) and the newly identified M3 in the coastal waters of Hong Kong, one of the world's busiest ports located in the southern coast of China, were monitored by SPME-GC-MS and SPME-GC-FID. Water samples from five locations within Hong Kong waters were analysed and the levels of Irgarol-1051, M1 and M3 were found to be 0.1-1.6 microg l(-1), 36.8-259.0 microg l(-1) and 0.03-0.39 microg l(-1), respectively. Our results indicate that M3 is relatively stable against photo- and bio-degradation and may pose considerable risk to primary producer communities in the coastal marine environment.     

Determination and analysis of sorption of 137Cs to soils in Hong Kong reservoir

Soils from a local reservoir had been analyzed for their physical and chemical properties, distribution coefficients Kd and sorption rates for 137Cs. It was found that soils in Hong Kong were relatively low in organic matter and more acidic than those in some other countries. In sorption experiments, the rates of decrease in water activity concentration were initially very high, higher for larger mass of soils added, and then slowed down. The larger the mass, the shorter was the time for equilibrium. Three isotherms had been obtained by varying one of the three parameters (initial water activity concentration, slurry ratio and particle size) at a time. For constant initial water activity concentration and random sizes, percent sorption increased with slurry ratio. For soils of constant mass and random sizes. percent sorption decreased with increasing initial water activity concentration. For constant initial water activity concentration and slurry ratio, percent sorption increased with decreasing size of soil particles. A simple logistic model was developed to explain some of the findings.     

Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding

It has been suggested that actively expressed genes are primarily located in early replicating bands. This hypothesis is supported by cytogenetic and pregnancy outcome data from four consecutive cases of prenatally detected de novo marker chromosomes. Two fetuses with major anomalies had large early replicating bands, while the marker in a third phenotypically normal fetus was late replicating. In the fourth case, a ring marker chromosome had only a small early replicating region. Pregnancy termination was elected. While no structural malformations were apparent, potential intellectual function in this case remains unresolved. An understanding of the relationship between genomic organization and chromosome banding is critical in counseling for prenatally detected de novo marker chromosomes. Replicational banding is particularly helpful in recognizing genes that may be actively expressed and result in developmental abnormality.     

Comparative studies of water quality in two brackish ponds for shrimp cultivation in a salt marsh

Physical, chemical and microbiological characteristics of two 'keiwais' (brackish ponds built along the coastal area for shrimp cultivation) in the Mai Po Marshes, Hong Kong, were measured and compared. One keiwai, located closer to the domestic and agricultural areas, had lower shrimp production than the other. Physical, microbiological and most of the chemical parameters of two keiwais showed no significant difference, while the keiwai closer to the domestic and agricultural areas had higher biochemical oxygen demand (BOD5), and higher levels of phosphate (PO4(3-)-P) and cadmium (Cd2+). Results of the present study indicate that these keiwais were polluted by sewage discharged from nearby domestic, agricultural and industrial areas. The possibility that water received by the less polluted keiwai was purified by surrounding mangroves and sediments in the Mai Po Marshes is discussed.     

Effect of food availability on egg production and packaging in the intertidal scavenging gastropod Nassarius festivus

Individuals of the scavenging gastropod Nassarius festivus (Powys) were maintained for 12 weeks at one of the three ration levels, i.e. one meal every 2, 7 or 14 d, and the effect on growth and fecundity were determined. The number and size of egg capsules, number of eggs per capsule and the calorific value of eggs together with the egg capsules decreased as food availability decreased. The size of the eggs, however, was not affected. At the end of the experiment, the cumulative mortalities were high for individuals maintained at the high and medium ration and were 56.3% and 50%, respectively, whereas the mortality was only 16.7% at the low ration. There was no increase in the shell length but a decrease in the total wet weight for all the treatments. As food availability decreased, the proportion of consumed energy allocated to reproduction decreased from 7.2% to 1.4%. This plastic life history may be a mechanism enabling scavengers to survive in an environment of which the food availability is patchy and unpredictable. Received: 14 August 1998 / Accepted: 23 July 1999     

怠速条件下汽车排气污染物在排气尾流中扩散特性的实验研究

通过实验的方法对怠速条件下汽车排气污染物在排气尾流中的扩散特性进行了研究.测定了怠速条件下汽车排气尾流中的污染物体积分数及其分布,并比较分析了3种不同类型汽车的污染物排放体积分数及其变化.实验结果表明,怠速时汽车排气尾流中的污染物体积分数按照近似指数函数的趋势迅速降低到接近大气背景值;不同类型汽车排气尾流中的污染物体积分数的差别非常明显;排气方向对汽车排放污染物的扩散及其分布具有重要的影响.研究工作可以为怠速工况下汽车排气污染物对周围环境的影响评价提供更多的有用信息.