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.     

城乡接合部居民楼火灾风险评价及防控对策研究

为了准确探究城乡接合部居民楼火灾事故致因机理,预防与控制城乡接合部日常生产与生活过程中引发火灾事故的有效途径,建立信息面更全、实际性更强的火灾风险评估模型是目前行之有效的手段。基于湖南省某地发生火灾事故的实际情况,根据事故树分析法,以城乡接合部居民楼火灾事故为顶事件构建事故树,计算得到事故树的最小割集、最小径集和结构重要度,研究城乡接合部居民楼火灾事故的发生模式、致因因素及影响程度,为改善城乡接合部居民楼火灾安全提供重要的理论依据,并提出相应的防控措施及对策。     

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.     

美国和五大湖双边共同关注区域的白肚燕(双色树燕)雏鸟的有机污染状况

白肚燕，又名双色树燕，栖居于五大湖流域中27个双边共同关注区域(AOCs)，从2010年到2014年对其进行了污染物暴露风险评估，以协助管理者和监管者评估五大湖AOCs的污染状况。本文比较了AOCs和附近非AOCs雏鸟体内污染物浓度的差异。AOCs白肚燕雏鸟尸体中多氯联苯(PCB)和多溴联苯醚的含量分别为30%和33%，低于非AOCs的平均浓度。AOCs白肚燕雏鸟胃含物中多环芳烃(PAH)浓度和血浆中全氟化合物浓度分别为67%和64%，也低于非AOCs的平均浓度。但是与已有生殖效应记载的高PCB污染区相比，有些AOCs雏鸟尸体内的PCBs浓度只是存在小幅升高。一些AOCs食物中PAHs的浓度足够高以致引起可测量的生理响应。在AOCs中，全氟化合物全氟辛烷磺酸在血浆中的最高浓度出现在Raisin河(密歇根州，美国；几何平均数330 ng/mL)，但远低于预估毒性的参考值(1 700 ng/mL)。之前有研究报道雏鸟胃含物中PAH和PCB的浓度以及尸体中PCBs的含量与沉积物中污染物的含量显著相关，从而可加强白肚燕在评估沉积物污染生物有效性方面的应用。
精选自Thomas W. Custer, Christine M. Custer, Paul M. Dummer, Diana Goldberg, J. Christian Franson, Richard A. Erickson. Organic contamination in tree swallow (Tachycineta bicolor) nestlings at United States and binational Great Lakes areas of concern. Environmental Toxicology and Chemistry: Volume 36, Issue 3, pages 735–748, July 2017. DOI: 10.1002/etc.3598
详情请见http://onlinelibrary.wiley.com/wol1/doi/10.1002/etc.3598/full
     

A conceptual approach to model sand–gravel extraction from rivers based on a game theory perspective

Sand–gravel mining is a significant parameter of economic development and social welfare function in modern societies. As demand for aggregate increases in construction industry, conflicts for the availability of the resource and environmental impacts become more intense. The present paper describes the contested status quo in riverbed sand–gravel mining activities with an example from Greece, as a case study. The scope is to propose a methodology about good governance of the mining sector that promotes a sustainable sharing of aggregate resource by securing environment and safekeeping revenues in the mining trade market.     

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.     

The climate adaptation imperative: local choices targeting global problems?

When confronted with the demands of global climate change, what causes some policy-makers to move the climate adaptation agenda forward in their communities, while others seemingly get little accomplished? To answer this question, we first discuss work on policy-drivers in a coupled human–natural systemic context. This summary review of past research helps us develop a set of competing and complementary explanations for why some communities aggressively pursue climate adaptation policies, while others do less. Following the discussion of policy-drivers, we then undertake an aggregate-level analysis of data collected across the 169 towns in Connecticut regarding climate adaptation, thus linking policy to its fundamental global cause. The quantitative data are augmented with interview data from policy-makers and activists from around the New England region.