Mosaicism for trisomy 12: Four cases with varying outcomes

Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism.     

Enhanced twin pregnancy detection within an open neural tube defect and down syndrome screening protocol using free-beta hCG and AFP

We have applied our multimarker approach of maternal serum alpha-fetoprotein (AFP) and free-beta human chorionic gonadotropin (hCG) for Down syndrome screening to multiple gestations to assess its efficacy for improved detection of twin and triplet pregnancies. This study matched 225 cases of twin pregnancy and 39 cases of triplet pregnancy each with ten singleton pregnancies based on gestational week, race, time to receive sample, time of year of sample, and geographical area. The ratios of the MOM for each group at the tenth, 50th, and 90th percentiles were compared by the Wilcoxon test. Risks for twins were calculated using Bayes' rule, the age-related incidence of twins, and the levels of AFP and free-beta hCG. The tenth, 50th, and 90th percentiles of free-beta hCG MOMs in twin and triplet cases were 0.85, 1.99, and 4.51, and 1.38, 2.78, and 4.07, respectively. For AFP, the MOMs at these percentiles were 1.26, 1.91, and 2.99, and 2.02, 2.68, and 5.30, respectively. The twin and triplet distributions for each marker were statistically significantly different from the singleton distributions (P<0.0001) and from each other (P=0.0012). At a twin risk cut-off of 1 in 50, 77.4 per cent of all twin gestations can be detected in a second-trimester AFP and free-beta hCG screening protocol with 5.1 per cent of singleton pregnancies falsely identified as at risk for twins. Our dual marker protocol for mid-trimester pregnancy screening combining AFP and free-beta hCG can identify over 77 per cent of twin pregnancies in women less than 35 years of age. This benefit may contribute to an improved outcome of pregnancy by early detection of multiple gestation.     

Preparing future engineers for challenges of the 21st century: Sustainable engineering

The field of engineering is changing rapidly as the growing global population puts added demands on the earth's resources: engineering decisions must now account for limitations in materials and energy as well as the need to reduce discharges of wastes. This means educators must revise courses and curricula so engineering graduates are prepared for the new challenges as practicing engineers. The Center for Sustainable Engineering has been established to help faculty members accommodate such changes through workshops and new educational materials, including a free access website with peer-reviewed materials.     

MR imaging of the fetal musculoskeletal system

Magnetic resonance imaging (MRI) appears to be increasingly used, in addition to standard ultrasonography for the diagnosis of abnormalities in utero. Previous studies have recently drawn attention to the technical refinement of MRI to visualize the fetal bones and muscles. Beyond commonly used T2-weighted MRI, echoplanar, thick-slab T2-weighted and dynamic sequences, and three-dimensional MRI techniques, are about to provide new imaging insights into the normal and the pathological musculoskeletal system of the fetus. This review emphasizes the potential significance of MRI in the visualization of the fetal musculoskeletal system. © 2012 John Wiley & Sons, Ltd.     

Downscaling and visioning of mountain snow packs and other climate change implications in North Vancouver, British Columbia

This paper provides an overview of a collaborative study on visualizing climate change at the local scale. A conceptual framework has been developed, in which local scenarios and visualizations of climate change impacts and response were created to facilitate local dialogue on incorporating climate change into long-term planning and implementation of community development decisions. As part of a larger effort to generate a new integrated participatory visioning process, this paper describes a case study of the District of North Vancouver which created visualizations of changing mountain snow and landscape conditions, and provides new insights on issues and dilemmas in using realistic landscape visualizations to depict scientific modelling projections, local responses to climate change, and uncertainty. Results from this study suggest that the visualizations, and subsequent dialogue sessions, did influence emotional response to climate change as well as self-assessed understanding of adaptation and mitigation response options. However, there is a need to test this visioning process with larger heterogeneous groups of participants in order to better assess its effectiveness in enabling dialogue on local responses to climate change.     

Optimizing the biodiversity gain from agri-environment schemes

How best to optimize the biodiversity gain from agri-environment schemes (AES) has recently been identified as a key policy-relevant question. Here, the effects of two features of lowland agricultural landscapes on the abundance and diversity of larger moths are contrasted. Although both features bring about positive effects, hedgerow trees have a larger impact than 6 m wide grassy field margins. Whilst AES payments are given to create and maintain grass margins, no financial reward is currently offered for the retention of hedgerow trees. Furthermore, it was only in areas where the amount of land under AES was experimentally increased, by targeting farmers, that the presence of hedgerow trees resulted in a substantially higher abundance (+60%) and diversity (+38%) of moths. Thus, by using larger moths as bio-indicators of landscape-scale quality, it is demonstrated that improvements to the cost-effectiveness of AES could be achieved, firstly, by providing more appropriate financial rewards to farmers for different landscape features, and secondly, through landscape-scale targeting of farmers to encourage participation in AES.     

Neanderthal medics? Evidence for food, cooking, and medicinal plants entrapped in dental calculus

Neanderthals disappeared sometime between 30,000 and 24,000?years ago. Until recently, Neanderthals were understood to have been predominantly meat-eaters; however, a growing body of evidence suggests their diet also included plants. We present the results of a study, in which sequential thermal desorption-gas chromatography-mass spectrometry (TD-GC-MS) and pyrolysis-gas chromatography-mass spectrometry (Py-GC-MS) were combined with morphological analysis of plant microfossils, to identify material entrapped in dental calculus from five Neanderthal individuals from the north Spanish site of El Sidrón. Our results provide the first molecular evidence for inhalation of wood-fire smoke and bitumen or oil shale and ingestion of a range of cooked plant foods. We also offer the first evidence for the use of medicinal plants by a Neanderthal individual. The varied use of plants that we have identified suggests that the Neanderthal occupants of El Sidrón had a sophisticated knowledge of their natural surroundings which included the ability to select and use certain plants.     

让我们积极应对气候变化

气候确实在发生变化。以往人们随意地认为这与温室效应气体排放量的增加有关，现在这种观点已得到充分证实。自1991年以来．已出现了自有记录以来全球气温最高的十个年份．而在上个世纪，温度上升7约0.6摄氏度。在同一期间内，全球的海平面上升了约20厘米．部分原因是陆地上冰层融化．海洋自身发生热膨胀。许多山峰上的冰盖正在消失．最近几十年来，夏秋季节北冰洋的冰层厚