Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia

Placental mesenchymal dysplasia (PMD) is a distinct syndrome of unknown aetiology that is associated with significant fetal morbidity and mortality. Intrauterine growth restriction is common, yet, paradoxically, many of the associated fetuses/newborns have been diagnosed with Beckwith‐Wiedemann syndrome (BWS)

Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome

Hemiconvulsion–hemiplegia–epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient’s complex genetic background

Finding Our Direction: The Process of Building a Community-University Food Mapping Team

Multifaceted causes and consequences of food insecurity require collaborative work across multiple academic disciplines and with various community partners in order to build sustainable solutions. Interdisciplinary teams require thoughtful considerations of time devoted to team-building exercises, paying particular attention to understanding members’ values. Teams must find points of convergence, develop mutually agreed upon common language, and openly discuss needs and expectations. This paper describes the process of building a community-university Food Mapping Team to address food security. The FMT initiative allows for a well-coordinated exploration of data collection methods that capitalize on the diverse interdisciplinary expertise and resources of university researchers and extensive knowledge of community partners, whose work can inform, and be impacted by, these efforts. We provide a set of processes used to form our partnership and describe our decision-making process in the development of a community food security research project. We also include a self-assessment of the research planning and implementation process that our team used and describe areas of improvement for other community-university groups to consider

Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome

Hemiconvulsion–hemiplegia–epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient’s complex genetic background

The position of authenticity within extant models of personality.

The aim of the current study was to explore where authenticity, derived from the humanistic tradition of psychology, was positioned within a number of extant models of personality. Exploratory and Confirmatory Factor Analysis of data from four samples (total N = 1286) suggested that authenticity can be considered as loading on the Honesty–Humility factor of personality. These findings are discussed in terms of the wider theoretical overlaps between Honesty–Humility and psychological functioning as emphasised by the humanistic tradition of psychology

The impact of the supersonic baryon-dark matter velocity difference on the z~20 21cm background

Recently, Tseliakhovich and Hirata (2010) showed that during the cosmic Dark Ages the baryons were typically moving supersonically with respect to the dark matter with a spatially variable Mach number. Such supersonic motion may source shocks that heat the Universe. This motion may also suppress star formation in the first halos. Even a small amount of coupling of the 21cm signal to this motion has the potential to vastly enhance the 21cm brightness temperature fluctuations at 15<z<40 as well as to imprint acoustic oscillations in this signal. We present estimates for the size of this coupling, which we calibrate with a suite of cosmological simulations. Our simulations, discussed in detail in a companion paper, are initialized to self-consistently account for gas pressure and the dark matter-baryon relative velocity, v_bc (in contrast to prior simulations). We find that the supersonic velocity difference dramatically suppresses structure formation at 10-100 comoving kpc scales, it sources shocks throughout the Universe, and it impacts the accretion of gas onto the first star-forming minihalos (even for halo masses as large as ~10^7 Msun). However, we find that the v_bc-sourced temperature fluctuations can contribute only as much as ~10% of the fluctuations in the 21cm signal. We do find that v_bc could source an O(1) component in the power spectrum of the 21cm signal via the X-ray (but not ultraviolet) backgrounds produced once the first stars formed. In a scenario in which ~10^6 Msun minihalos reheated the Universe via their X-ray backgrounds, we find that the pre-reionization 21cm signal would be larger than previously anticipated and exhibit significant acoustic features. We show that structure formation shocks are unable to heat the Universe sufficiently to erase a strong 21cm absorption trough at z ~ 20 that is found in most models of the sky-averaged 21cm intensity.Comment: 17 pages, 11 figures, accepted to ApJ; for movies see http://astro.berkeley.edu/~mmcquinn/firstligh

Foreground Contamination in Interferometric Measurements of the Redshifted 21 cm Power Spectrum

Subtraction of astrophysical foreground contamination from "dirty" sky maps produced by simulated measurements of the Murchison Widefield Array (MWA) has been performed by fitting a 3rd-order polynomial along the spectral dimension of each pixel in the data cubes. The simulations are the first to include the unavoidable instrumental effects of the frequency-dependent primary antenna beams and synthesized array beams. They recover the one-dimensional spherically-binned input redshifted 21 cm power spectrum to within approximately 1% over the scales probed most sensitively by the MWA (0.01 < k < 1 Mpc^-1) and demonstrate that realistic instrumental effects will not mask the EoR signal. We find that the weighting function used to produce the dirty sky maps from the gridded visibility measurements is important to the success of the technique. Uniform weighting of the visibility measurements produces the best results, whereas natural weighting significantly worsens the foreground subtraction by coupling structure in the density of the visibility measurements to spectral structure in the dirty sky map data cube. The extremely dense uv-coverage of the MWA was found to be advantageous for this technique and produced very good results on scales corresponding to |u| < 500 wavelengths in the uv-plane without any selective editing of the uv-coverage.Comment: Replaced with version accepted by ApJ. 19 pages, including 3 figure

Aortopathy in the 7q11.23 microduplication syndrome

The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, developmental delay highlighted by variable speech delay, and autistic features are characteristic findings. Congenital heart defects, most commonly patent ductus arteriosus, have been reported in a minority of cases. Included in the duplicated region is elastin (), implicated as the cause of supravalvar aortic stenosis in patients with Williams–Beuren syndrome. Here we present a series of eight pediatric patients and one adult with 7q11.23 microduplication syndrome, all of whom had aortic dilation, the opposite vascular phenotype of the typical supravalvar aortic stenosis found in Williams–Beuren syndrome. The ascending aorta was most commonly involved, while dilation was less frequently identified at the aortic root and sinotubular junction. The findings in these patients support a recommendation for cardiovascular surveillance in patients with 7q11.23 microduplication syndrome. © 2014 Wiley Periodicals, Inc

Low temperature studies of the excited-state structure of Nitrogen-Vacancy color centers in diamond

We report a study of the 3E excited-state structure of single nitrogen-vacancy (NV) defects in diamond, combining resonant excitation at cryogenic temperatures and optically detected magnetic resonance. A theoretical model of the excited-state structure is developed and shows excellent agreement with experimental observations. Besides, we show that the two orbital branches associated with the 3E excited-state are averaged when operating at room temperature. This study leads to an improved physical understanding of the NV defect electronic structure, which is invaluable for the development of diamond-based quantum information processing.Comment: 4 pages, 4 figure