Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

Migrating an incident reporting system to a CCPS process safety metrics model

A major chemical company established a formal incident investigation and reporting system several years ago. The original system focused heavily on worker-related injuries, illnesses, and near-misses and was used primarily to track statistics reportable to the Occupational Safety and Health Administration (OSHA). This Occupational Injury and Illness (OII) approach has been recognized to be an ineffective tool for measuring, predicting, and preventing process safety incidents. The Center for Chemical Process Safety (CCPS) recently published guidelines on how to establish safety metrics for the measurement and reduction of process safety incidents. The process safety metrics approach relies upon leading and lagging metrics to improve organization process safety. This paper is a case study of the analysis of one organization’s incident database, which represents approximately five years of data from over a dozen facilities. The aim of this investigation was to extract useful process safety metrics from the incident investigation and reporting system, which would be pertinent to the types of process units and process functions at these facilities. This paper will discuss the approach taken to extract process incident information from an OII-based database and present the difficulties of performing an analysis on such a database. This paper provides guidance on how to migrate an existing OII-based reporting system to a program that includes process safety metrics in accordance with industry best practices.     

Highlights of LNG risk technology

The authors have recently undertaken a major review of LNG consequence modeling, compiling a wide range of historical information with more recent experiments and modeling approaches in a book entitled “LNG Risk-Based Safety: Modeling and Consequence Analysis”. All the main consequence routes were reviewed – discharge, evaporation, pool and jet fire, vapor cloud explosions, rollover, and Rapid Phase Transitions (RPT’s). In the book, experimental data bases are assembled for tests on pool spread and evaporation, burn rates, dispersion, fire and radiation and effects on personnel and structures. The current paper presents selected highlights of interest: lessons learned from historical development and experience, comparison of predictions by various models, varying mechanisms for LNG spread of water, a modeling protocol to enable acceptance of newer models, and unresolved technical issues such as cascading failures, fire engulfment of a carrier, the circumstances for a possible LNG BLEVE, and accelerated evaporation by LNG penetration into water.     

Rapid detection of numerical aberrations of chromosomes 13, 18 and 21 in chorionic mesenchymal cells

We have devised and evaluated a rapid screening method for the detection of numerical aberrations of chromosomes13, 18 and 21 in chorionic villus cells. We used non-radioactive in situ hybridization (ISH) with three chromosome-specific probes on overnight-attached mesenchymal cells from chorionic villi. A blind study was performed of 47 karyotypically normal samples, one triploid sample, two samples trisomic for chromosome 21, and two samples from a fetus with putative mosaicism (46/47, +21). All samples were hybridized with the chromosome 18- and 21-specific probes. Thirty samples were additionally hybridized with the chromosome 13-specific probe. The test could be completed within 3-4 days of sampling. In samples disomic with respect to the probed chromosomes, an average of 2 per cent (range 0-9 per cent) had three hybridization signals. By contrast, in the samples trisomic for the probed chromosome(s), 57 per cent (chromosome 13), 51 per cent (chromosome 18), and an average of 74 per cent (55-86 per cent) (chromosome 21) of the nuclei exhibited three signals. In the putative mosaic samples, the number of nuclei with three chromosome 21-specific signals ranged from 41 to 69 per cent. We conclude that this technique rapidly and clearly distinguishes between normal and trisomic/triploid samples, and consequently may be of use in future prenatal diagnosis.     

Transabdominal chorionic villus sampling in the second and third trimesters of pregnancy: Chromosome quality,reporting time,and feto-maternal bleeding

Transabdominal chorionic villus sampling (TA-CVS) was performed in 210 pregnancies from 13 to 38 weeks using a double-needle technique. The sampling success was comparable to first-trimester TA-CVS and the diagnostic success rate was 98.2 per cent for the short-term technique and 99.3 per cent for cultured villi. Two fetuses could not be karyotyped. We found the chromosome quality to be similar to that in the first trimester, comparing the number of G-bands and other chromosome attributes. There were no unintended losses in a group (n = 142) with no sonographic abnormality, except for one death in utero at 38 weeks, 20 weeks after sampling. Chromosomal aberrations were seen in 19 per cent of cases with abnormal sonograms (n = 58). One case of a discordant karyotype was found (false-negative prediction of Down's syndrome by the short-term preparation). There were no cases of fetal demise due to feto-maternal bleeding. It is suggested that double-needle TA-CVS in advanced pregnancies combines the advantages of rapid karyotyping of chromosomes of good quality and low risk for the fetus, and seems to be easier to practise and is probably safer than cordocentesis.     

Investigating missing sources of glyoxal over China using a regional air quality model (RAMS-CMAQ)

Currently, modeling studies tend to significantly underestimate observed space-based glyoxal(CHOCHO) vertical column densities(VCDs), implying the existence of missing sources of glyoxal. Several recent studies suggest that the emissions of aromatic compounds and molar yields of glyoxal in the chemical mechanisms may both be underestimated, which can affect the simulated glyoxal concentrations. In this study, the influences of these two factors on glyoxal amounts over China were investigated using the RAMS-CMAQ modeling system for January and July 2014. Four sensitivity simulations were performed, and the results were compared to satellite observations. These results demonstrated significant impacts on glyoxal concentrations from these two factors.In case 1, where the emissions of aromatic compounds were increased three-fold,improvements to glyoxal VCDs were seen in high anthropogenic emissions regions. In case 2, where molar yields of glyoxal from isoprene were increased five-fold, the resulted concentrations in July were 3–5-fold higher, achieving closer agreement between the modeled and measured glyoxal VCDs. The combined changes from both cases 1 and 2 were applied in case 3, and the model succeeded in further reducing the underestimations of glyoxal VCDs. However, the results over most of the regions with pronounced anthropogenic emissions were still underestimated. So the molar yields of glyoxal from anthropogenic precursors were considered in case 4. With these additional mole yield changes(a two-fold increase), the improved concentrations agreed better with the measurements in regions of the lower reaches of the Yangtze River and Yellow River in January but not in July.     

Development of soil chemical and biological properties in the initial stages of post-mining deposition sites

The aim of this study was to assess the seasonal development of the physicochemical (pH, organic C, organic N, extractable P, Ca²⁺, Mg²⁺) and biological soil properties (microbial biomass, activities of urease, dehydrogenase and alkaline phosphatase) of the topsoil of mine deposition sites that differed based on the material used exclusively for their creation: (a) marlstones, (b) red-grey formations (RGF), and (c) fly ash (FA), during the first year after their creation. Our hypothesis was that all deposition sites, regardless the material they consist of, present equal opportunities for the establishment of spontaneous vegetation. All macronutrients concentrations (P, Ca²⁺, and Mg²⁺) remained constant with time and were found to be higher in the FA sites. Organic C, organic N, all enzyme activities, and microbial biomass were higher in the RGF and marl depositions, with marl sites presenting the highest values. All values of biological variables, with the exception of alkaline phosphatase, increased with time. The alkaline environment along with the slow improvement in soil biological properties of the FA sites seemed to present the most unfavorable conditions for spontaneous vegetation growth. On the contrary, the other two spoil materials presented significant improvement in the initial stages of soil formation in terms of soil functionality.     

Effects of pig manure containing copper and zinc on microbial community assessed via phospholipids in soils

Pig manure (PM) is widely used as an organic fertilizer to increase yields of crops. Excessive application of compost containing relatively great concentrations of copper (Cu) and zinc (Zn) can change soil quality. To clarify the effects of different rates of application and to determine the optimal rate of fertilization, PM containing 1,115 mg Cu kg^?1, dry mass (dm) and 1,497 mg Zn kg^?1, dm was applied to alkaline soil at rates of 0, 11, 22, 44, 88, and 222 g PM kg^?1, dm. Phospholipid fatty acids (PLFAs) were used to assess soil microbial community composition. Application of PM resulted in greater concentrations of total nitrogen (TN), NH₄ ⁺-N, NO₃ ^?-N, total carbon (TC), soil organic matter (SOM) but lesser pH values. Soils with application rates of 88–222 g PM kg^?1, dm had concentrations of total and EDTA-extractable Cu and Zn significantly greater than those in soil without PM, and concentrations of T-Cu and T-Zn in these amended soils exceeded maximum limits set by standards in china. Except in the soil with a rate of 11 g PM kg^?1, dm, total bacterial and fungal PLFAs were directly proportional to rate of application of PM. Biomasses of bacteria and fungi were significantly greater in soils with application rates of 44–222 g PM kg^?1, dm than in the soil without PM. SOM, TC and EDTA-Zn had the most direct influence on soil microbial communities. To improve fertility of soils and maintain quality of soil, rate of application should be 22–44 g PM kg^?1 dm, soil containing Cu and Zn.     

A landscape-based reconnaissance survey of estrogenic activity in streams of the upper Potomac,upper James,and Shenandoah Rivers,USA

Endocrine-disrupting compounds (EDCs) are becoming of increasing concern in waterways of the USA and worldwide. What remains poorly understood, however, is how prevalent these emerging contaminants are in the environment and what methods are best able to determine landscape sources of EDCs. We describe the development of a spatially structured sampling design and a reconnaissance survey of estrogenic activity along gradients of land use within sub-watersheds. We present this example as a useful approach for state and federal agencies with an interest in identifying locations potentially impacted by EDCs that warrant more intensive, focused research. Our study confirms the importance of agricultural activities on levels of a measured estrogenic equivalent (E2Eq) and also highlights the importance of other potential sources of E2Eq in areas where intensive agriculture is not the dominant land use. Through application of readily available geographic information system (GIS) data, coupled with spatial statistical analysis, we demonstrate the correlation of specific land use types to levels of estrogenic activity across a large area in a consistent and unbiased manner.