Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures

BACKGROUND: MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including MECP2, is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed a broad phenotypic rescue in transgenic mice. With human clinical trials on the horizon, there is a need to develop clinical outcome measures for MDS. METHODS: We surveyed caregivers of MDS individuals to explore the frequency and severity of MDS clinical features, and identify the most meaningful symptoms/domains that need to be included in the outcome measure scales. RESULTS: A total of 101 responses were eligible for the survey. The top six most meaningful symptoms to caregivers in descending order included epilepsy, gross motor, fine motor, communication, infection, and constipation problems. Epilepsy was present in 58.4% of the subjects and 75% were drug‐resistant, Furthermore, ~12% required intensive care unit (ICU) admission. Infections were present in 55% of the subjects, and one‐fourth of them required ICU admission. Constipation was present in ~85% of the subjects and one‐third required enemas/suppositories. CONCLUSION: Our study is one of the largest cohorts conducted on MDS individuals characterizing the frequency and severity of MDS symptoms. Additionally, these study results will contribute to establishing a foundation to develop parent‐reported outcomes in MDS

Pyroclastic Deposits on Venus as Indicators of the Youngest Volcanism

While most of the surface of Venus formed by effusive volcanic processes, deposits suggesting eruption styles that distribute airfall debris over large areas, or ground-hugging flows from plume collapse, are not common. Prior work notes radar-bright units with diffuse margins, generally consistent with a plume collapse emplacement model, in Eistla Regio, Dione Regio, and near Sappho Patera. We examine these deposits, and map additional occurrences, using Magellan data and Earth-based polarimetric radar maps from 1988, 2012, and 2015 observations

Evidence for Water Ice on the Moon: Results for Anomalous Polar Craters from the LRO Mini-RF Imaging Radar

The Mini-RF radar instrument on the Lunar Reconnaissance Orbiter spacecraft mapped both lunar poles in two different RF wavelengths (complete mapping at 12.6 cm S-band and partial mapping at 4.2 cm X-band) in two look directions, removing much of the ambiguity of previous Earth- and spacecraft-based radar mapping of the Moon's polar regions. The poles are typical highland terrain, showing expected values of radar cross section (albedo) and circular polarization ratio (CPR). Most fresh craters display high values of CPR in and outside the crater rim; the pattern of these CPR distributions is consistent with high levels of wavelength-scale surface roughness associated with the presence of block fields, impact melt flows, and fallback breccia. A different class of polar crater exhibits high CPR only in their interiors, interiors that are both permanently dark and very cold (less than 100 K). Application of scattering models developed previously suggests that these anomalously high-CPR deposits exhibit behavior consistent with the presence of water ice. If this interpretation is correct, then both poles may contain several hundred million tons of water in the form of relatively "clean" ice, all within the upper couple of meters of the lunar surface. The existence of significant water ice deposits enables both long-term human habitation of the Moon and the creation of a permanent cislunar space transportation system based upon the harvest and use of lunar propellant

Evidence for Water Ie on the Moon: Results for Anomalous Polar Craters from the LRO Mini-RF Imaging Radar

The Mini-RF radar instrument on the Lunar Reconnaissance Orbiter spacecraft mapped both lunar poles in two different RF wavelengths (complete mapping at 12.6 cm S-band and partial mapping at 4.2 cm X-band) in two look directions, removing much of the ambiguity of previous Earth- and spacecraft-based radar mapping of the Moon's polar regions. The poles are typical highland terrain, showing expected values of radar cross section (albedo) and circular polarization ratio (CPR). Most fresh craters display high values of CPR in and outside the crater rim; the pattern of these CPR distributions is consistent with high levels of wavelength-scale surface roughness associated with the presence of block fields, impact melt flows, and fallback breccia. A different class of polar crater exhibits high CPR only in their interiors, interiors that are both permanently dark and very cold (less than 100 K). Application of scattering models developed previously suggests that these anomalously high-CPR deposits exhibit behavior consistent with the presence of water ice. If this interpretation is correct, then both poles may contain several hundred million tons of water in the form of relatively "clean" ice, all within the upper couple of meters of the lunar surface. The existence of significant water ice deposits enables both long-term human habitation of the Moon and the creation of a permanent cislunar space transportation system based upon the harvest and use of lunar propellant

Hypnosis for treatment of insomnia in school-age children: a retrospective chart review

BACKGROUND: The purposes of this study are to document psychosocial stressors and medical conditions associated with development of insomnia in school-age children and to report use of hypnosis for this condition. METHODS: A retrospective chart review was performed for 84 children and adolescents with insomnia, excluding those with central or obstructive sleep apnea. All patients were offered and accepted instruction in self-hypnosis for treatment of insomnia, and for other symptoms if it was felt that these were amenable to therapy with hypnosis. Seventy-five patients returned for follow-up after the first hypnosis session. Their mean age was 12 years (range, 7–17). When insomnia did not resolve after the first instruction session, patients were offered the opportunity to use hypnosis to gain insight into the cause. RESULTS: Younger children were more likely to report that the insomnia was related to fears. Two or fewer hypnosis sessions were provided to 68% of the patients. Of the 70 patients reporting a delay in sleep onset of more than 30 minutes, 90% reported a reduction in sleep onset time following hypnosis. Of the 21 patients reporting nighttime awakenings more than once a week, 52% reported resolution of the awakenings and 38% reported improvement. Somatic complaints amenable to hypnosis were reported by 41%, including chest pain, dyspnea, functional abdominal pain, habit cough, headaches, and vocal cord dysfunction. Among these patients, 87% reported improvement or resolution of the somatic complaints following hypnosis. CONCLUSION: Use of hypnosis appears to facilitate efficient therapy for insomnia in school-age children

Photolysis of sulphuric acid as the source of sulphur oxides in the mesosphere of Venus

The sulphur cycle plays fundamental roles in the chemistry and climate of Venus. Thermodynamic equilibrium chemistry at the surface of Venus favours the production of carbonyl sulphide and to a lesser extent sulphur dioxide. These gases are transported to the middle atmosphere by the Hadley circulation cell. Above the cloud top, a sulphur oxidation cycle involves conversion of carbonyl sulphide into sulphur dioxide, which is then transported further upwards. A significant fraction of this sulphur dioxide is subsequently oxidized to sulphur trioxide and eventually reacts with water to form sulphuric acid. Because the vapour pressure of sulphuric acid is low, it readily condenses and forms an upper cloud layer at altitudes of 60–70 km, and an upper haze layer above 70 km (ref. 9), which effectively sequesters sulphur oxides from photochemical reactions. Here we present simulations of the fate of sulphuric acid in the Venusian mesosphere based on the Caltech/JPL kinetics model, but including the photolysis of sulphuric acid. Our model suggests that the mixing ratios of sulphur oxides are at least five times higher above 90 km when the photolysis of sulphuric acid is included. Our results are inconsistent with the previous model results but in agreement with the recent observations using ground-based microwave spectroscopy and by Venus Express

Exoplanet Science Priorities from the Perspective of Internal and Surface Processes for Silicate and Ice Dominated Worlds

The geophysics of extrasolar planets is a scientific topic often regarded as standing largely beyond the reach of near-term observations. This reality in no way diminishes the central role of geophysical phenomena in shaping planetary outcomes, from formation, to thermal and chemical evolution, to numerous issues of surface and near-surface habitability. We emphasize that for a balanced understanding of extrasolar planets, it is important to look beyond the natural biases of current observing tools, and actively seek unique pathways to understand exoplanet interiors as best as possible during the long interim prior to a time when internal components are more directly accessible. Such pathways include but are not limited to: (a) enhanced theoretical and numerical modeling, (b) laboratory research on critical material properties, (c) measurement of geophysical properties by indirect inference from imprints left on atmospheric and orbital properties, and (d) the purpose-driven use of Solar System object exploration expressly for its value in comparative planetology toward exoplanet-analogs. Breaking down barriers that envision local Solar System exploration, including the study of Earth's own deep interior, as separate from and in financial competition with extrasolar planet research, may greatly improve the rate of needed scientific progress for exoplanet geophysics. As the number of known rocky and icy exoplanets grows in the years ahead, we expect demand for expertise in 'exogeoscience' will expand at a commensurately intense pace. We highlight key topics, including: how water oceans below ice shells may dominate the total habitability of our galaxy by volume, how free-floating nomad planets may often attain habitable subsurface oceans supported by radionuclide decay, and how deep interiors may critically interact with atmospheric mass loss via dynamo-driven magnetic fields

Highly Volcanic Exoplanets, Lava Worlds, and Magma Ocean Worlds:An Emerging Class of Dynamic Exoplanets of Significant Scientific Priority

Highly volcanic exoplanets, which can be variously characterized as 'lava worlds', 'magma ocean worlds', or 'super-Ios' are high priority targets for investigation. The term 'lava world' may refer to any planet with extensive surface lava lakes, while the term 'magma ocean world' refers to planets with global or hemispherical magma oceans at their surface. 'Highly volcanic planets', including super-Ios, may simply have large, or large numbers of, active explosive or extrusive volcanoes of any form. They are plausibly highly diverse, with magmatic processes across a wide range of compositions, temperatures, activity rates, volcanic eruption styles, and background gravitational force magnitudes. Worlds in all these classes are likely to be the most characterizable rocky exoplanets in the near future due to observational advantages that stem from their preferential occurrence in short orbital periods and their bright day-side flux in the infrared. Transit techniques should enable a level of characterization of these worlds analogous to hot Jupiters. Understanding processes on highly volcanic worlds is critical to interpret imminent observations. The physical states of these worlds are likely to inform not just geodynamic processes, but also planet formation, and phenomena crucial to habitability. Volcanic and magmatic activity uniquely allows chemical investigation of otherwise spectroscopically inaccessible interior compositions. These worlds will be vital to assess the degree to which planetary interior element abundances compare to their stellar hosts, and may also offer pathways to study both the very young Earth, and the very early form of many silicate planets where magma oceans and surface lava lakes are expected to be more prevalent. We suggest that highly volcanic worlds may become second only to habitable worlds in terms of both scientific and public long-term interest.Comment: A white paper submitted in response to the National Academy of Sciences 2018 Exoplanet Science Strategy solicitation, from the NASA Sellers Exoplanet Environments Collaboration (SEEC) of the Goddard Space Flight Center. 6 pages, 0 figure

Schools out : Adam Smith and pre-disciplinary international political economy

In this article, I argue that invocations of Adam Smith in international political economy (IPE) often reveal the influence therein of a disciplinary ontological disaggregation of economic and non-economic rationality, which I claim is obscured by the tendency to map its complex intellectual contours in terms of competing schools. I trace the origins of the disciplinary characterisation of Smith as the founder of IPE's liberal tradition to invocations of his thought by centrally important figures in the perceived Austrian, Chicago and German historical schools of economics, and reflect upon the significance to IPE of the reiteration of this portrayal by apparent members of its so-called American and British schools. I additionally contrast these interpretations to those put forward by scholars who seek to interpret IPE and Smith's contribution to it in pre-disciplinary terms, which I claim reflects a distinct ontology to that attributed to the British school of IPE with which their work is often associated. I therefore contend that reflection upon invocations of Smith's thought in IPE problematises the longstanding tendency to map its intellectual terrain in terms of competing schools, reveals that the disciplinary ontological consensus that informs this tendency impacts upon articulations of its core concerns and suggests that a pre-disciplinary approach offers an alternative lens through which such concerns might be more effectively framed