An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses. The design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research. The design of the I-DSD and I-CAH Registries provides them with the ability to perform multiple studies and meet the standards for data elements, data sources and eligibility criteria. The registries follow the standards for data security, governance, ethical and legal issues, sustainability and communication of activities. The data have a high degree of validity, consistency and accuracy and the completeness is maximal for specific conditions such as androgen insensitivity syndrome and congenital adrenal hyperplasia. In terms of research output, the external validity is strong but the wide variety of cases needs further review. The internal validity of data was condition specific and highest for conditions such as congenital adrenal hyperplasia. The shift of the registry from a European registry to an international registry and the creation of a discrete but linked CAH registry increased the number of users and stakeholders as well as the international acceptability of both registries. The I-DSD and I-CAH registries comply with the standards set by expert organisations. Recent modifications in their operation have allowed the registries to increase their user acceptability

Mercury deposition in southern New Hampshire, 2006–2009

The atmospheric deposition of mercury (Hg) occurs via several mechanisms including wet, dry, and occult processes. In an effort to understand the atmospheric cycling and seasonal depositional characteristics of Hg, event-based wet deposition samples and reactive gaseous Hg (RGM) measurements were collected for approximately 3 years at Thompson Farm (TF), a near-coastal rural site in Durham, NH, part of the University of New Hampshire AIRMAP Observing Network. Total aqueous mercury exhibited seasonal patterns in Hg wet deposition at TF. The lowest Hg wet deposition was measured in the winter with an average total seasonal deposition of 1.56 μg m−2compared to the summer average of 4.71 μg m−2. Inter-annual differences in total wet deposition are generally linked with precipitation volume, with the greatest deposition occurring in the wettest year. Relationships between surface level RGM and Hg wet deposition were also investigated based on continuous RGM measurements at TF from November 2006 to September 2009. No correlations were observed between RGM mixing ratios and Hg wet deposition, however the ineffective scavenging of RGM during winter precipitation events was evidenced by the less frequent depletion of RGM below the detection level. Seasonal dry deposition of reactive gaseous Hg (RGM) was estimated using an order-of-magnitude approach. RGM mixing ratios and dry deposition estimates were greatest during the winter and spring. The seasonal ratios of Hg wet deposition to RGM dry deposition vary by up to a factor of 80

Kepler Transit Depths Contaminated by a Phantom Star

We present ground-based observations from the Discovery Channel Telescope (DCT) of three transits of Kepler-445c---a supposed super-Earth exoplanet with properties resembling GJ 1214b---and demonstrate that the transit depth is approximately 50 percent shallower than the depth previously inferred from Kepler Spacecraft data. The resulting decrease in planetary radius significantly alters the interpretation of the exoplanet's bulk composition. Despite the faintness of the M4 dwarf host star, our ground-based photometry clearly recovers each transit and achieves repeatable 1-sigma precision of approximately 0.2 percent (2 millimags). The transit parameters estimated from the DCT data are discrepant with those inferred from the Kepler data to at least 17-sigma confidence. This inconsistency is due to a subtle miscalculation of the stellar crowding metric during the Kepler pre-search data conditioning (PDC). The crowding metric, or CROWDSAP, is contaminated by a non-existent "phantom star" originating in the USNO-B1 catalog and inherited by the Kepler Input Catalog (KIC). Phantom stars in the KIC are likely rare, but they have the potential to affect statistical studies of Kepler targets that use the PDC transit depths for a large number of exoplanets where individual follow-up observation of each is not possible. The miscalculation of Kepler-445c's transit depth emphasizes the importance of stellar crowding in the Kepler data, and provides a cautionary tale for the analysis of data from the Transiting Exoplanet Survey Satellite (TESS), which will have even larger pixels than Kepler.Comment: 11 pages, 10 figures, 5 tables. Accepted for publication in AJ. Transit light curves will be available from AJ as Db

Only connect: addressing the emotional needs of Scotland's children and young people

A report on the SNAP (Scottish Needs Assessment Programme) Child and Adolescent Mental Health Phase Two survey. It describes a survey of a wide range of professionals working with children and young people in Scotland, and deals with professional perspectives on emotional, behavioural and psychological problems. Conclusions and recommendations are presented

Laser-Derived Particle Size Data from CRP-3, Victoria Land Basin, Antarctica: Implications for Sequence and Seismic Stratigraphy

Seven hundred and nineteen samples from throughout the Cainozoic section in CRP-3 were analysed by a Malvern Mastersizer laser particle analyser, in order to derive a stratigraphic distribution of grain-size parameters downhole. Entropy analysis of these data (using the method of Woolfe & Michibayashi, 1995) allowed recognition of four groups of samples, each group characterised by a distinctive grain-size distribution. Group 1, which shows a multi-modal distribution, corresponds to mudrocks, interbedded mudrock/sandstone facies, muddy sandstones and diamictites. Group 2, with a sand-grade mode but showing wide dispersion of particle size, corresponds to muddy sandstones, a few cleaner sandstones and some conglomerates. Group 3 and Group 4 are also sand-dominated, with better grain-size sorting, and correspond to clean, well-washed sandstones of varying mean grain-size (medium and fine modes, respectively). The downhole disappearance of Group 1, and dominance of Groups 3 and 4 reflect a concomitant change from mudrock- and diamictite-rich lithology to a section dominated by clean, well-washed sandstones with minor conglomerates. Progressive downhole increases in percentage sand and principal mode also reflect these changes. Significant shifts in grain-size parameters and entropy group membership were noted across sequence boundaries and seismic reflectors, as recognised in other studies

The neural correlates of emotion processing in juvenile offenders

Individuals with severe antisocial behaviour often demonstrate abnormalities or difficulties in emotion processing. Antisocial behaviour typically onsets before adulthood and is reflected in antisocial individuals at the biological level. We therefore conducted a brain-based study of emotion processing in juvenile offenders. Male adolescent offenders and age-matched non-offenders passively viewed emotional images whilst their brain activity was recorded using electroencephalography. The early posterior negativity (EPN) and the late positive potential (LPP) components were used as indices of emotion processing. For both juvenile offenders and non-offenders, the EPN differentiated unpleasant images from other image types, suggesting that early perceptual processing was not impaired in the offender group. In line with normal emotion processing, the LPP was significantly enhanced following unpleasant images for non-offenders. However, for juvenile offenders, the LPP did not differ across image categories, indicative of deficient emotional processing. The findings indicated that this brain-based hypo-reactivity occurred during a late stage of cognitive processing and was not a consequence of atypical early visual attention or perception. This study is the first to show attenuated emotion processing in juvenile offenders at the neural level. Overall, these results have the potential to inform interventions for juvenile offending

Approaching the adiabatic timescale with machine-learning

The control and manipulation of quantum systems without excitation is challenging, due to the complexities in fully modeling such systems accurately and the difficulties in controlling these inherently fragile systems experimentally. For example, while protocols to decompress Bose-Einstein condensates (BEC) faster than the adiabatic timescale (without excitation or loss) have been well developed theoretically, experimental implementations of these protocols have yet to reach speeds faster than the adiabatic timescale. In this work, we experimentally demonstrate an alternative approach based on a machine learning algorithm which makes progress towards this goal. The algorithm is given control of the coupled decompression and transport of a metastable helium condensate, with its performance determined after each experimental iteration by measuring the excitations of the resultant BEC. After each iteration the algorithm adjusts its internal model of the system to create an improved control output for the next iteration. Given sufficient control over the decompression, the algorithm converges to a novel solution that sets the current speed record in relation to the adiabatic timescale, beating out other experimental realizations based on theoretical approaches. This method presents a feasible approach for implementing fast state preparations or transformations in other quantum systems, without requiring a solution to a theoretical model of the system. Implications for fundamental physics and cooling are discussed.Comment: 7 pages main text, 2 pages supporting informatio

Semicontinuous Bioreactor Production of Recombinant Butyrylcholinesterase in Transgenic Rice Cell Suspension Cultures.

An active and tetrameric form of recombinant butyrylcholinesterase (BChE), a large and complex human enzyme, was produced via semicontinuous operation in a transgenic rice cell suspension culture. After transformation of rice callus and screening of transformants, the cultures were scaled up from culture flask to a lab scale bioreactor. The bioreactor was operated through two phases each of growth and expression. The cells were able to produce BChE during both expression phases, with a maximum yield of 1.6 mg BChE/L of culture during the second expression phase. Cells successfully regrew during a 5-day growth phase. A combination of activity assays and Western blot analysis indicated production of an active and fully assembled tetramer of BChE