Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies

Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors. The aims of this study were to examine the association between results of prenatal tests and pregnancy termination, and the proportion of foetuses with and without chromosomal anomalies referred for invasive diagnostic tests over time. Diagnostic information of 26,261 prenatal invasive tests from all genetic service laboratories in Scotland from 2000 to 2011 was linked to Scottish Morbidity Records to obtain details on pregnancy outcome. Binary logistic regression was carried out to test the associations of year and type of diagnosis with pregnancy termination, while controlling for maternal age, neighbourhood deprivation and parity. There were 24,155 (92.0%) with no chromosomal anomalies, 1,483 (5.6%) aneuploidy diagnoses, and 623 (2.4%) diagnoses of anomaly that was not aneuploidy (including translocations and single chromosome deletions). In comparison with negative test results, pregnancies diagnosed with trisomy were most likely to be terminated (adjusted OR 437.40, 95% CI 348.19–549.46) followed by other aneuploid anomalies (adjusted OR 95.94, 95% CI 69.21–133.01). During the study period, fewer pregnancies that were diagnosed with aneuploidy were terminated, including trisomy diagnoses (adjusted OR 0.44, 95% CI 0.26–0.73). Older women were less likely to terminate (OR 0.35, 95% CI 0.28, 0.42), and parity was also an independent predictor of termination. In keeping with previous findings, while the number of invasive diagnostic tests declined, the proportion of abnormal results increased from 6.09% to 10.88%. Systematic advances in prenatal screening have improved detection rates for aneuploidy. This has been accompanied by a reduction in the rate of termination for aneuploidy. This may reflect societal changes with acceptance of greater diversity, but this is speculation, and further research would be needed to test this

Reparameterizing the Birkhoff Polytope for Variational Permutation Inference

Many matching, tracking, sorting, and ranking problems require probabilistic reasoning about possible permutations, a set that grows factorially with dimension. Combinatorial optimization algorithms may enable efficient point estimation, but fully Bayesian inference poses a severe challenge in this high-dimensional, discrete space. To surmount this challenge, we start with the usual step of relaxing a discrete set (here, of permutation matrices) to its convex hull, which here is the Birkhoff polytope: the set of all doubly-stochastic matrices. We then introduce two novel transformations: first, an invertible and differentiable stick-breaking procedure that maps unconstrained space to the Birkhoff polytope; second, a map that rounds points toward the vertices of the polytope. Both transformations include a temperature parameter that, in the limit, concentrates the densities on permutation matrices. We then exploit these transformations and reparameterization gradients to introduce variational inference over permutation matrices, and we demonstrate its utility in a series of experiments

Interpreting Fracture Patterns in Sandstones Interbedded with Ductile Strata at the Salt Valley Anticline, Arches National Park, Utah

Sandstones that overlie or that are interbedded with evaporitic or other ductile strata commonly contain numerous localized domains of fractures, each covering an area of a few square miles. Fractures within the Entrada Sandstone at the Salt Valley Anticline are associated with salt mobility within the underlying Paradox Formation. The fracture relationships observed at Salt Valley (along with examples from Paleozoic strata at the southern edge of the Holbrook basin in northeastern Arizona, and sandstones of the Frontier Formation along the western edge of the Green River basin in southwestern Wyoming), show that although each fracture domain may contain consistently oriented fractures, the orientations and patterns of the fractures vary considerably from domain to domain. Most of the fracture patterns in the brittle sandstones are related to local stresses created by subtle, irregular flexures resulting from mobility of the associated, interbedded ductile strata (halite or shale). Sequential episodes of evaporite dissolution and/or mobility in different directions can result in multiple, superimposed fracture sets in the associated sandstones. Multiple sets of superimposed fractures create reservoir-quality fracture interconnectivity within restricted localities of a formation. However, it is difficult to predict the orientations and characteristics of this type of fracturing in the subsurface. This is primarily because the orientations and characteristics of these fractures typically have little relationship to the regional tectonic stresses that might be used to predict fracture characteristics prior to drilling. Nevertheless, the high probability of numerous, intersecting fractures in such settings attests to the importance of determining fracture orientations in these types of fractured reservoirs

Five-minute Apgar score and educational outcomes: retrospective cohort study of 751 369 children

Background: The Apgar score is used worldwide for assessing the clinical condition and short-term prognosis of newborn infants. Evidence for a relationship with long-term educational outcomes is conflicting. We investigated whether Apgar score at 5 min after birth was associated with additional support needs (ASN) and educational attainment. Methods: Data on pregnancy, delivery and later educational outcomes for children attending Scottish schools between 2006 and 2011 were collated by linking individual-level data from national educational and maternity databases. The relationship between Apgar score and overall ASN, type-specific ASN and educational attainment was assessed using binary, multinomial and generalised ordinal logistic regression models, respectively. Missing covariate data were imputed. Results: Of the 751 369 children eligible, 9741 (1.3%) had a low or intermediate Apgar score and 49 962 (6.6%) had ASN. Low Apgar score was independently associated with overall ASN status (adjusted OR for Apgar ≤3, OR 1.52 95% CI 1.35 to 1.70), as well as ASN due to cognitive (OR 1.26, 95% CI 1.09 to 1.47), sensory (OR 2.49 95% CI 1.66 to 3.73) and motor (OR 3.57, 95% CI 2.86 to 4.47) impairments. There was a dose-response relationship between Apgar score and overall ASN status: of those scoring 0–3, 10.1% had ASN, compared with 9.1% of those scoring 4–7 and 6.6% of those scoring 7–10. A low Apgar score was associated with lower educational attainment, but this was not robust to adjustment for confounders. Conclusions: Apgar scores are associated with long-term as well as short-term prognoses, and with educational as well as clinical outcomes at the population level

Atmospheric circulation of hot Jupiters: insensitivity to initial conditions

The ongoing characterization of hot Jupiters has motivated a variety of circulation models of their atmospheres. Such models must be integrated starting from an assumed initial state, which is typically taken to be a wind-free, rest state. Here, we investigate the sensitivity of hot-Jupiter atmospheric circulation models to initial conditions. We consider two classes of models--shallow-water models, which have proven successful at illuminating the dynamical mechanisms at play on these planets, and full three-dimensional models similar to those being explored in the literature. Models are initialized with zonal jets, and we explore a variety of different initial jet profiles. We demonstrate that, in both classes of models, the final, equilibrated state is independent of initial condition--as long as frictional drag near the bottom of the domain and/or interaction with a specified planetary interior are included so that the atmosphere can adjust angular momentum over time relative to the interior. When such mechanisms are included, otherwise identical models initialized with vastly different initial conditions all converge to the same statistical steady state. In some cases, the models exhibit modest time variability; this variability results in random fluctuations about the statistical steady state, but we emphasize that, even in these cases, the statistical steady state itself does not depend on initial conditions. Although the outcome of hot-Jupiter circulation models depend on details of the radiative forcing and frictional drag, aspects of which remain uncertain, we conclude that the specification of initial conditions is not a source of uncertainty, at least over the parameter range explored in most current models.Comment: Revised version; accepted and published. 16 pages, 16 figure

Trout and invertebrate assemblages in stream pools through wildfire and drought

Abstract: Climate change is increasing the frequency, severity, and extent of wildfires and drought in many parts of the world, with numerous repercussions for the physical, chemical, and biological characteristics of streams. However, information on how these perturbations affect top predators and their impacts on lower trophic levels in streams is limited. The top aquatic predator in southern California streams is native Oncorhynchus mykiss, the endangered southern California steelhead trout (trout). To examine relationships among the distribution of trout, environmental factors, and stream invertebrate resources and assemblages, we sampled pools in 25 stream reaches that differed in the presence (nine reaches) or absence (16 reaches) of trout over 12 years, including eight reaches where trout were extirpated during the study period by drought or post‐fire flood disturbances. Trout were present in deep pools with high water and habitat quality. Invertebrate communities in trout pools were dominated by a variety of medium‐sized collector–gatherer and shredder invertebrate taxa with non‐seasonal life cycles, whereas tadpoles and large, predatory invertebrates (Odonata, Coleoptera, Hemiptera [OCH]), often with atmospheric breather traits, were more abundant in troutless than trout pools. Structural equation modelling of the algal‐based food web indicated a trophic cascade from trout to predatory invertebrates to collector–gatherer taxa and weaker direct negative trout effects on grazers; however, both grazers and collector–gatherers also were positively related to macroalgal biomass. Structural equation modelling also suggested that bottom‐up interactions and abiotic factors drove the detritus‐based food web, with shredder abundance being positively related to leaf litter (coarse particulate organic matter) levels, which, in turn, were positively related to canopy cover and negatively related to flow. These results emphasise the context dependency of trout effects on prey communities and of the relative importance of top‐down versus bottom‐up interactions on food webs, contingent on environmental conditions (flow, light, nutrients, disturbances) and the abundances and traits of component taxa. Invertebrate assemblage structure changed from a trout to a troutless configuration within a year or two after trout were lost owing to post‐fire scouring flows or drought. Increases in OCH abundance after trout were lost were much more variable after drought than after fire. The reappearance of trout in one stream resulted in quick, severe reductions in OCH abundance. These results indicate that climate‐change induced disturbances can result in the extirpation of a top predator, with cascading repercussions for stream communities and food webs. This study also emphasises the importance of preserving or restoring refuge habitats, such as deep, shaded, perennial, cool stream pools with high habitat and water quality, to prevent the extirpation of sensitive species and preserve native biodiversity during a time of climate change

The effects of land use changes on streams and rivers in mediterranean climates

We reviewed the literature on the effects of land use changes on mediterranean river ecosystems (med-rivers) to provide a foundation and directions for future research on catchment management during times of rapid human population growth and climate change. Seasonal human demand for water in mediterranean climate regions (med-regions) is high, leading to intense competition for water with riverine communities often containing many endemic species. The responses of river communities to human alterations of land use, vegetation, hydrological, and hydrochemical conditions are similar in mediterranean and other climatic regions. High variation in hydrological regimes in med-regions, however, tends to exacerbate the magnitude of these responses. For example, land use changes promote longer dry season flows, concentrating contaminants, allowing the accumulation of detritus, algae, and plants, and fostering higher temperatures and lower dissolved oxygen levels, all of which may extirpate sensitive native species. Exotic species often thrive in med-rivers altered by human activity, further homogenizing river communities worldwide. We recommend that future research rigorously evaluate the effects of management and restoration practices on river ecosystems, delineate the cause-effect pathways leading from human perturbations to stream biological communities, and incorporate analyses of the effects of scale, land use heterogeneity, and high temporal hydrological variability on stream communities. © 2012 Springer Science+Business Media Dordrecht

Assessing Photoreceptor Structure Associated with Ellipsoid Zone Disruptions Visualized with Optical Coherence Tomography

Purpose: To compare images of photoreceptor layer disruptions obtained with optical coherence tomography (OCT) and adaptive optics scanning light ophthalmoscopy (AOSLO) in a variety of pathologic states.Methods: Five subjects with photoreceptor ellipsoid zone disruption as per OCT and clinical diagnoses of closed-globe blunt ocular trauma (n = 2), macular telangiectasia type 2 (n = 1), blue-cone monochromacy (n = 1), or cone-rod dystrophy (n = 1) were included. Images were acquired within and around photoreceptor lesions using spectral domain OCT, confocal AOSLO, and split-detector AOSLO.Results: There were substantial differences in the extent and appearance of the photoreceptor mosaic as revealed by confocal AOSLO, split-detector AOSLO, and spectral domain OCT en face view of the ellipsoid zone.Conclusion: Clinically available spectral domain OCT, viewed en face or as B-scan, may lead to misinterpretation of photoreceptor anatomy in a variety of diseases and injuries. This was demonstrated using split-detector AOSLO to reveal substantial populations of photoreceptors in areas of no, low, or ambiguous ellipsoid zone reflectivity with en face OCT and confocal AOSLO. Although it is unclear if these photoreceptors are functional, their presence offers hope for therapeutic strategies aimed at preserving or restoring photoreceptor function

Hall effect and conduction anisotropy in the organic conductor TMTSF2PF6

Long missing basic experiments in the normal phase of the anisotropic electron system of TMTSF2PF6 were performed. Both the Hall effect and the ab'-plane conduction anisotropy are directly addressing the unconventional electrical properties of this Bechgaard salt. We found that the dramatic reduction of the carrier density deduced from recent optical data is not reflected in an enhanced Hall-resistance. The pressure- and temperature dependence of the b'-direction resitivity reveal isotropic relaxation time and do not require explanations beyond the Fermi liquid theory. Our results allow a coherent-diffusive transition in the interchain carrier propagation, however the possible crossover to Luttinger liquid behavior is placed to an energy scale above room temperature.Comment: 5 pages, 5 figures, to be published in Phys. Rev. Let

Now the wars are over: The past, present and future of Scottish battlefields

Battlefield archaeology has provided a new way of appreciating historic battlefields. This paper provides a summary of the long history of warfare and conflict in Scotland which has given rise to a large number of battlefield sites. Recent moves to highlight the archaeological importance of these sites, in the form of Historic Scotland’s Battlefields Inventory are discussed, along with some of the problems associated with the preservation and management of these important cultural sites