Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells

We report a gas chromatographic-mass spectrometric method which allows the very long chain fatty acids content of trophoblastic tissue to be directly measured in samples collected by biopsy between 8 and 11 weeks of gestation. This method has been successfully applied to the detection of fetal Zellweger syndrome in two pregnant women who had previously delivered affected infants. In one of them, increased concentrations of C26:0 (0.254 versus 0.108±0.035 μ/mg proteins) and C24:0 (1.32 versus 0.815±0.325 μ/mg proteins) in trophoblast indicated that the fetus had Zellweger syndrome, a diagnosis confirmed by pathological findings after abortion. In the second case, the pregnancy was allowed to proceed, on the basis of normal concentrations of very long chain fatty acids in trophoblastic tissue, and its outcome was actually a healthy newborn.     

一种富稀土型三效催化剂的性能考察

对一种富烯土型三效催化剂的性能进行了考察，结果表明：该催化剂具有较好的三效活性和较好的启燃温度特性，具有较宛的空速适应范围，在空速为84000h^-1时，CO,NOx的转化率仍在90％以上，HC转化率仍在70％以上，该催化剂具有较好的耐老化性能，经实验室快速老化实验，即相当于实车行驶8万km,CO劣化系数，1.09,HC劣化系1．05，NOx劣化系数1．06，该催化剂经桑塔纳轿车整车28工况测试，其交化效果与该车配置的美国Engelherd公司的催化剂相当。     

Evaluation of thermal reaction for two azo compounds by using 20-L apparatus and calorimetry

Azo compounds are widely involved in the industrial processes of dyes, pigments, initiators, and blowing agents. Unfortunately, these compounds have a bivalent unstable –NN– composition, which can be readily broken when the ambient temperature is elevated. Self-accelerating decomposition might cause a runaway reaction and lead to a fire, explosion, or leakage when the cooling system fails or other events occur. This study investigated the explosion properties, thermal stability parameters, and thermal hazard and mechanism of 2,2′–azobisisobutyronitrile (AIBN) and 2,2′–azobis–2–methylbutyronitrile (AMBN). We used a 20-L apparatus, vent sizing package 2, synchronous thermal analysis, and differential scanning calorimetry under explosive, adiabatic, and dynamic conditions to acquire the explosive curves, thermal curves, and thermodynamic parameters of the substances. Moreover, the differential isoconversional method (Friedman method) and ASTM E698 equation were employed to obtain the apparent activation energy E_a. All the experimental results revealed that AIBN is more dangerous than AMBN. The E_a of AIBN was lower than that of AMBN. The results can be used to construct an azo compound thermal hazard database for use for searches and reference examples by industry and related research areas.     

Pyrolysis of waste animal fats in a fixed-bed reactor: Production and characterization of bio-oil and bio-char

Several animal (lamb, poultry and swine) fatty wastes were pyrolyzed under nitrogen, in a laboratory scale fixed-bed reactor and the main products (liquid bio-oil, solid bio-char and syngas) were obtained. The purpose of this study is to produce and characterize bio-oil and bio-char obtained from pyrolysis of animal fatty wastes. The maximum production of bio-oil was achieved at a pyrolysis temperature of 500 °C and a heating rate of 5 °C/min. The chemical (GC–MS analyses) and spectroscopic analyses (FTIR analyses) of bio-oil showed that it is a complex mixture consisting of different classes of organic compounds, i.e., hydrocarbons (alkanes, alkenes, cyclic compounds…etc.), carboxylic acids, aldehydes, ketones, esters,…etc. According to fuel properties, produced bio-oils showed good properties, suitable for its use as an engine fuel or as a potential source for synthetic fuels and chemical feedstock. Obtained bio-chars had low carbon content and high ash content which make them unattractive for as renewable source energy.     

Hazard property classification of waste according to the recent propositions of the EC using different methods

Hazard classification of waste is a necessity, but the hazard properties (named “H” and soon “HP”) are still not all defined in a practical and operational manner at EU level. Following discussion of subsequent draft proposals from the Commission there is still no final decision. Methods to implement the proposals have recently been proposed: tests methods for physical risks, test batteries for aquatic and terrestrial ecotoxicity, an analytical package for exhaustive determination of organic substances and mineral elements, surrogate methods for the speciation of mineral elements in mineral substances in waste, and calculation methods for human toxicity and ecotoxicity with M factors.In this paper the different proposed methods have been applied to a large assortment of solid and liquid wastes (>1 0 0).Data for 45 wastes – documented with extensive chemical analysis and flammability test – were assessed in terms of the different HP criteria and results were compared to LoW for lack of an independent classification. For most waste streams the classification matches with the designation provided in the LoW. This indicates that the criteria used by LoW are similar to the HP limit values.This data set showed HP 14 ‘Ecotoxic chronic’ is the most discriminating HP. All wastes classified as acute ecotoxic are also chronic ecotoxic and the assessment of acute ecotoxicity separately is therefore not needed. The high number of HP 14 classified wastes is due to the very low limit values when stringent M factors are applied to total concentrations (worst case method). With M factor set to 1 the classification method is not sufficiently discriminating between hazardous and non-hazardous materials. The second most frequent hazard is HP 7 ‘Carcinogenic’. The third most frequent hazard is HP 10 ‘Toxic for reproduction’ and the fourth most frequent hazard is HP 4 “Irritant – skin irritation and eye damage”. In a stepwise approach, it seems relevant to assess HP 14 first, then, if the waste is not classified as hazardous, to assess subsequently HP 7, HP 10 and HP 4, and then if still not classified as hazardous, to assess the remaining properties.The elements triggering the HP 14 classification in order of importance are Zn, Cu, Pb, Cr, Cd and Hg. Progress in the speciation of Zn and Cu is essential for HP 14. Organics were quantified by the proposed method (AFNOR XP X30-489) and need no speciation. Organics can contribute significantly to intrinsic toxicity in many waste materials, but they are only of minor importance for the assessment of HP 14 as the metal concentrations are the main HP 14 classifiers. Organic compounds are however responsible for other toxicological characteristics (hormone disturbance, genotoxicity, reprotoxicity…) and shall be taken into account when the waste is not HP 14 classified.     

Getting ready for the manned mission to Mars: the astronauts’ risk from space radiation

Space programmes are shifting towards planetary exploration and, in particular, towards missions by human beings to the Moon and to Mars. Radiation is considered to be one of the major hazards for personnel in space and has emerged as the most critical issue to be resolved for long-term missions both orbital and interplanetary. The two cosmic sources of radiation that could impact a mission outside the Earth’s magnetic field are solar particle events (SPE) and galactic cosmic rays (GCR). Exposure to the types of ionizing radiation encountered during space travel may cause a number of health-related problems, but the primary concern is related to the increased risk of cancer induction in astronauts. Predictions of cancer risk and acceptable radiation exposure in space are extrapolated from minimal data and are subject to many uncertainties. The paper describes present-day estimates of equivalent doses from GCR and solar cosmic radiation behind various shields and radiation risks for astronauts on a mission to Mars.     

The moderating role of calling in the work–family interface: Buffering and substitution effects on employee satisfaction

This research seeks for improved understanding regarding the interaction of meaningful work and the work–family interface. Existing literature suggests that experiencing a sense of calling toward work makes the work domain particularly salient to employees compared to other life domains. In this article, we draw on this idea, rooted in identity theory, to hypothesize that a sense of calling toward work diminishes the effects of work–family conflict and work–family enrichment on employee's job and life satisfaction. We test these ideas in two studies. First, we surveyed an alumni sample of 598 employees from various jobs, industries, and job levels. Then, in a constructive replication, we surveyed 327 employees using a time-lagged design. Calling was found to significantly buffer the effect of work–family conflict on job satisfaction in Study 2, but not Study 1. Calling did not buffer the effect of conflict on life satisfaction in either study. However, both studies demonstrated that calling attenuated (substituted for) the effect of work–family enrichment on job satisfaction. Study 1 supported the idea that calling attenuates the effect of enrichment on life satisfaction; however, this interactive effect was reversed in Study 2, contrary to expectations. We discuss implications for theory and practice related to callings and career choices, as well as for the role of calling and work identity in the work–family interface.     

Applying the Kuhn–Tucker model to estimate the value of recreational ecosystem services in Sicily

This paper applies the Kuhn–Tucker model to estimate recreation demand of parks in Sicily. We estimate a fixed coefficient specification and a random coefficient specification to take into account heterogeneity across visitors. Estimates suggest a diversity of preferences across the population and that parks with higher level of quality attributes are more likely to be visited. We also simulate two sets of hypothetical policy scenarios to evaluate and compare the recreational value of each park and the welfare impacts of changes in a quality attribute.