Perennial Snow and Ice Variations (2000-2008) in the Arctic Circumpolar Land Area from Satellite Observations

Perennial snow and ice (PSI) extent is an important parameter of mountain environments with regard to its involvement in the hydrological cycle and the surface energy budget. We investigated interannual variations of PSI in nine mountain regions of interest (ROI) between 2000 and 2008. For that purpose, a novel MODIS data set processed at the Canada Centre for Remote Sensing at 250 m spatial resolution was utilized. The extent of PSI exhibited significant interannual variations, with coefficients of variation ranging from 5% to 81% depending on the ROI. A strong negative relationship was found between PSI and positive degree-days (threshold 0°C) during the summer months in most ROIs, with linear correlation coefficients (r) being as low as r = −0.90. In the European Alps and Scandinavia, PSI extent was significantly correlated with annual net glacier mass balances, with r = 0.91 and r = 0.85, respectively, suggesting that MODIS-derived PSI extent may be used as an indicator of net glacier mass balances. Validation of PSI extent in two land surface classifications for the years 2000 and 2005, GLC-2000 and Globcover, revealed significant discrepancies of up to 129% for both classifications. With regard to the importance of such classifications for land surface parameterizations in climate and land surface process models, this is a potential source of error to be investigated in future studies. The results presented here provide an interesting insight into variations of PSI in several ROIs and are instrumental for our understanding of sensitive mountain regions in the context of global climate change assessment.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

BACKGROUND: Microarray genome analysis is realising its promise for improving detection of genetic abnormalities in individuals with mental retardation and congenital abnormality. Copy number variations (CNVs) are now readily detectable using a variety of platforms and a major challenge is the distinction of pathogenic from ubiquitous, benign polymorphic CNVs. The aim of this study was to investigate replacement of time consuming, locus specific testing for specific microdeletion and microduplication syndromes with microarray analysis, which theoretically should detect all known syndromes with CNV aetiologies as well as new ones. METHODS: Genome wide copy number analysis was performed on 117 patients using Affymetrix 250K microarrays. RESULTS: 434 CNVs (195 losses and 239 gains) were found, including 18 pathogenic CNVs and 9 identified as "potentially pathogenic". Almost all pathogenic CNVs were larger than 500 kb, significantly larger than the median size of all CNVs detected. Segmental regions of loss of heterozygosity larger than 5 Mb were found in 5 patients. CONCLUSIONS: Genome microarray analysis has improved diagnostic success in this group of patients. Several examples of recently discovered "new syndromes" were found suggesting they are more common than previously suspected and collectively are likely to be a major cause of mental retardation. The findings have several implications for clinical practice. The study revealed the potential to make genetic diagnoses that were not evident in the clinical presentation, with implications for pretest counselling and the consent process. The importance of contributing novel CNVs to high quality databases for genotype-phenotype analysis and review of guidelines for selection of individuals for microarray analysis is emphasised.

Cosmogenic 180W variations in meteorites and re-assessment of a possible 184Os–180W decay system

We measured tungsten (W) isotopes in 23 iron meteorites and the metal phase of the CB chondrite Gujba in order to ascertain if there is evidence for a large-scale nucleosynthetic heterogeneity in the p-process isotope 180W in the solar nebula as recently suggested by Schulz et al. (2013). We observed large excesses in 180W (up to ≈ 6 ε) in some irons. However, significant within-group variations in magmatic IIAB and IVB irons are not consistent with a nucleosynthetic origin, and the collateral effects on 180W from an s-deficit in IVB irons cannot explain the total variation. We present a new model for the combined effects of spallation and neutron capture reactions on 180W in iron meteorites and show that at least some of the observed within-group variability is explained by cosmic ray effects. Neutron capture causes burnout of 180W, whereas spallation reactions lead to positive shifts in 180W. These effects depend on the target composition and cosmic-ray exposure duration; spallation effects increase with Re/W and Os/W ratios in the target and with exposure age. The correlation of 180W/184W with Os/W ratios in iron meteorites results in part from spallogenic production of 180W rather than from 184Os decay, contrary to a recent study by Peters et al. (2014). Residual ε180W excesses after correction for an s-deficit and for cosmic ray effects may be due to ingrowth of 180W from 184Os decay, but the magnitude of this ingrowth is at least a factor of ≈2 smaller than previously suggested. These much smaller effects strongly limit the applicability of the putative 184Os-180W system to investigate geological problems.

Editorial genesis: From comparing texts (product) to interpreting rewritings (process)

In literary genetics, “editorial genetics” deals with the “public life” of texts, whereas the writing process is affected by edition and diffusion. Editorial genetics frequently has to deal with cases of “editorial rewriting”: in the literary domain for example, authors frequently modify previously published works, so that several versions may co-exist. We are especially interested in Balzac’s La Bourse (translated in English as The Purse) since we know three authorized versions of this specific work.By comparing different texts associated with a single work, the literary geneticist is facing different products that are themselves the result of a writing process. However, different specificities should be outlined: (1) the writing process does not leave any trace: we just have access to different products/texts and (2) since the texts we compare seem to be achieved, differences must be referred, not to programmatic or temporary linguistic structures, but to the reconfiguration of a pre-existing textuality.Do such products still reflect the processes that have given birth to them? Does the comparison between two texts considered as variations of a same text give access to this transformation’s processes? After describing the objects of this particular textual comparison and the terminology that permits to give an account of such phenomenon, this contribution suggests to express these questions differently, as a matter of poetics of transitions between texts, or, further digging, an hermeneutics of the transition between texts.