A critical appraisal of tools available for monitoring epigenetic changes in clinical samples from patients with myeloid malignancies

Research over the past decade has confirmed that epigenetic alterations act in concert with genetic lesions to deregulate gene expression in acute myeloid leukemia and myelodysplastic syndromes. In addition, we now have the capability to pharmaceutically target epigenetic modifications, and there is an urgent need forearly validation of the efficacy of the drugs. Also, an improved understanding of the functionality of epigenetic modifications may further pave the road towards an individualized therapy. Here, we provide the pros and cons of the currently most feasible methods used for characterizing the methylome in clinical samples, and give a brief introduction to novel approaches to sequencing that may revolutionize our abilities to characterize the genomes and epigenomes in acute myeloid leukemia and myelodysplastic syndrome patients.

Identifying trophic variation in a marine suspension feeder:DNA- and stable isotope-based dietary analysis in Mytilus spp.

Accurate field data on trophic interactions for suspension feeders are lacking, and new approaches to dietary analysis are necessary. Polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) was integrated with stable isotope analysis to examine dietary patterns in suspension-feeding Mytilus spp. from seven spatially discrete locations within a semi-enclosed marine bay (Strangford Lough, Northern Ireland) during June 2009. Results of the two methods were highly correlated, reflecting dietary variation in a similar manner. Variation in PCR-DGGE data was more strongly correlated with the principal environmental gradient (distance from the opening to the Irish Sea), while values of dC and dN became progressively enriched, suggesting a greater dependence on animal tissue and benthic microalgae. Diatoms and crustaceans were the most frequently observed phylotypes identified by sequencing, but specific DNA results provided little support for the trophic trends observed in the stable isotope data. This combined approach offers an increased level of trophic insight for suspension feeders and could be applied to other organisms. © 2012 Springer-Verlag Berlin Heidelberg.

Local materials for building houses: laterite valorization in Africa

This paper presents the preliminary results of geological and geomechanical studies on the laterite stone exploited at Dano quarry in Burkina Faso. The field work described the geological structure of quarry sites and their environment to determine the rocks alteration and the links between the bedrock and lateritic material. Physic-mechanical properties have been studied for assessing the potentiality of this material for lightweight housing, to be completed with thermal and environmental considerations. Some social and economic evaluations are in progress in order to foster its utilization under local conditions.

CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

Large and rare copy number variants (CNVs) at several loci have been shown to increase risk for schizophrenia. Aiming to discover novel susceptibility CNV loci, we analysed 6,882 cases and 11,255 controls genotyped on Illumina arrays, most of which have not been used for this purpose before. We identified genes enriched for rare exonic CNVs among cases, and then attempted to replicate the findings in an additional 14,568 cases and 15,274 controls. In a combined analysis of all samples, 12 distinct loci were enriched among cases with nominal levels of significance (P500kb), rare CNVs showed a 1.2% excess in cases after excluding known schizophrenia-associated loci, suggesting that additional susceptibility loci exist. However, even larger samples are required for their discovery.

Local materials for building houses: Laterite valorization in Africa

This paper presents the preliminary results of geological and geomechanical studies on the laterite stone exploited at Dano quarry in Burkina Faso. The field work described the geological structure of quarry sites and their environment to determine the rocks alteration and the links between the bedrock and lateritic material. Physic-mechanical properties have been studied for assessing the potentiality of this material for lightweight housing, to be completed with thermal and environmental considerations. Some social and economic evaluations are in progress in order to foster its utilization under local conditions. © (2014) Trans Tech Publications, Switzerland.

Spatial allocation of material flow analysis in residential developments: a case study of Kildare County, Ireland

Studies of urban metabolism provide important insights for environmental management of cities, but are not widely used in planning practice due to a mismatch of data scale and coverage. This paper introduces the Spatial Allocation of Material Flow Analysis (SAMFA) model as a potential decision support tool aimed as a contribution to overcome some of these difficulties and describes its pilot use at the county level in the Republic of Ireland. The results suggest that SAMFA is capable of identifying hotspots of higher material and energy use to support targeted planning initiatives, while its ability to visualise different policy scenarios supports more effective multi-stakeholder engagement. The paper evaluates this pilot use and sets out how this model can act as an analytical platform for the industrial ecology–spatial planning nexus.