Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

A new report of mesomelic camptomelia,polydactyly and Dandy–Walker complex in siblings

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy–Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright © 2003 John Wiley & Sons, Ltd.     

中国食管癌发病区环境地球化学及相关模型的研究进展

食管癌是一种常见的消化道疾病,在世界许多国家和地区均有发生,其中环境因素是引发地方病食管癌的重要因素。目前,模型被应用于食管癌的研究中,食管癌研究模型主要有食管癌发病率预测模型,食管癌预防模型及食管癌动物模型等。本文主要综述了前人对中国食管癌发病区的土壤、饮用水和食物等环境地球化学因素,以及与食管癌研究相关的土壤模型和食管癌模型的研究进展。     

NUTGRANJA 2.0: a simple mass balance model to explore the effects of different management strategies on nitrogen and greenhouse gases losses and soil phosphorus changes in dairy farms

Farm nutrient management has been identified as one of the most important factors determining the economic and environmental performance of dairy cattle (Bos taurus) farming systems. Given the environmental problems associated with dairy farms, such as emissions of greenhouse gases (GHG), and the complex interaction between farm management, environment and genetics, there is a need to develop robust tools which enable scientists and policy makers to study all these interactions. This paper describes the development of a simple model called NUTGRANJA 2.0 to evaluate GHG emissions and nitrogen (N) and phosphorus (P) losses from dairy farms. NUTGRANJA 2.0 is an empirical mass-balance model developed in order to simulate the main transfers and flows of N and P through the different stages of the dairy farm management. A model sensitivity test was carried out to explore some of the sensitivities of the model in relation to the simulation of GHG and N emissions. This test indicated that both management (e.g. milk yield per cow, annual fertiliser N rate) and site-specific factors (e.g. % clover (Trifolium) in the sward, soil type, and % land slope) had a large effect on most of the model state variables studied (e.g. GHG and N losses).     

Managing the nitrogen cycle to reduce greenhouse gas emissions from crop production and biofuel expansion

Public policies are promoting biofuels as an alternative to fossil fuel consumption in order to mitigate greenhouse gas (GHG) emissions. However, the mitigation benefit can be at least partially compromised by emissions occurring during feedstock production. One of the key sources of GHG emissions from biofuel feedstock production, as well as conventional crops, is soil nitrous oxide (N₂O), which is largely driven by nitrogen (N) management. Our objective was to determine how much GHG emissions could be reduced by encouraging alternative N management practices through application of nitrification inhibitors and a cap on N fertilization. We used the US Renewable Fuel Standards (RFS2) as the basis for a case study to evaluate technical and economic drivers influencing the N management mitigation strategies. We estimated soil N₂O emissions using the DayCent ecosystem model and applied the US Forest and Agricultural Sector Optimization Model with Greenhouse Gases (FASOMGHG) to project GHG emissions for the agricultural sector, as influenced by biofuel scenarios and N management options. Relative to the current RSF2 policy with no N management interventions, results show decreases in N₂O emissions ranging from 3 to 4 % for the agricultural sector (5.5–6.5 million metric tonnes CO₂?eq.?year^?1; 1 million metric tonnes is equivalent to a Teragram) in response to a cap that reduces N fertilizer application and even larger reductions with application of nitrification inhibitors, ranging from 9 to 10 % (15.5–16.6 million tonnes CO₂?eq.?year^?1). The results demonstrate that climate and energy policies promoting biofuel production could consider options to manage the N cycle with alternative fertilization practices for the agricultural sector and likely enhance the mitigation of GHG emissions associated with biofuels.     

A multidisciplinary study of archaeological grape seeds

We report here the first integrated investigation of both ancient DNA and proteins in archaeobotanical samples: medieval grape (Vitis vinifera L.) seeds, preserved by anoxic waterlogging, from an early medieval (seventh–eighth century A.D.) Byzantine rural settlement in the Salento area (Lecce, Italy) and a late (fourteenth–fifteenth century A.D.) medieval site in York (England). Pyrolysis gas chromatography mass spectrometry documented good carbohydrate preservation, whilst amino acid analysis revealed approximately 90% loss of the original protein content. In the York sample, mass spectrometry-based sequencing identified several degraded ancient peptides. Nuclear microsatellite locus (VVS2, VVMD5, VVMD7, ZAG62 and ZAG79) analysis permitted a tentative comparison of the genetic profiles of both the ancient samples with the modern varieties. The ability to recover microsatellite DNA has potential to improve biomolecular analysis on ancient grape seeds from archaeological contexts. Although the investigation of five microsatellite loci cannot assign the ancient samples to any geographic region or modern cultivar, the results allow speculation that the material from York was not grown locally, whilst the remains from Supersano could represent a trace of contacts with the eastern Mediterranean.     

Ecodesign methods focused on remanufacturing

Understanding the product's ‘end-of-life’ is important to reduce the environmental impact of the products' final disposal. When the initial stages of product development consider end-of-life aspects, which can be established by ecodesign (a proactive approach of environmental management that aims to reduce the total environmental impact of products), it becomes easier to close the loop of materials. The ‘end-of-life’ ecodesign methods generally include more than one ‘end-of-life’ strategy. Since product complexity varies substantially, some components, systems or sub-systems are easier to be recycled, reused or remanufactured than others. Remanufacture is an effective way to maintain products in a closed-loop, reducing both environmental impacts and costs of the manufacturing processes. This paper presents some ecodesign methods focused on the integration of different ‘end-of-life’ strategies, with special attention to remanufacturing, given its increasing importance in the international scenario to reduce the life cycle impacts of products.     

Headwater streams: neglected ecosystems in the EU Water Framework Directive. Implications for nitrogen pollution control

The European Union Water Framework Directive (WFD) aims to achieve the “good status” of waters by 2015, through monitoring and control of human impacts on “bodies of surface water” (BSWs), discrete elements for quality diagnosis and management. Headwater streams, however, are frequently neglected as they are not usually recognised as BSW. This poses limitations for the management of river catchments, because anthropogenic impacts on headwaters can constrain the quality of downstream rivers. To illustrate this problem, we compared nitrate levels and land use pressures in a small agricultural catchment with those recorded in the catchment in which it is embedded (Ega), and in the Ebro River Basin (NE Spain) comprising both. Agriculture greatly influenced water nitrate concentration, regardless of the size of the catchments: R² = 0.91 for headwater catchments (0.1–7.3 km²), and R² = 0.82 for Ebro tributary catchments (223–3113 km²). Moreover, nitrate concentration in the outlet of a non-BSW small river catchment was similar to that of the greater downstream BSW rivers. These results are of interest since, despite representing 76% of the length of the Ega catchment hydrographical network, only 3.1% of the length of the headwater streams has been identified as BSWs. Human activities affecting headwater streams should therefore be considered if the 2015 objective of the WFD is to be achieved.