Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome)

Published online: 08 May 2017Background: Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son. Method: Fifty-one genes associated with congenital cataract were sequenced in the proband using a custom Ampliseq library on the Ion Torrent Personal Genome Machine (PGM). Reads were aligned against the human genome (hg19) and variants were annotated. Variants were prioritised for validation by Sanger sequencing if they were novel, rare or previously reported to be associated with paediatric cataract and were predicted to be protein changing. Variants were assessed for segregation with the phenotype in the affected mother. Result: A novel likely pathogenic variant was identified in the transactivation domain of the MAF gene (c.176C > G, p.(Pro59Arg)) in the proband and his affected mother., but was absent in 326 unrelated controls and absent from public variant databases. Conclusion: The MAF variant is the likely cause of the congenital cataract, Asperger syndrome, seizures, hearing loss and facial characteristics in the proband, providinga diagnosis of Aymé-Gripp syndrome for the family.Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau and Kathryn P. Burdo

Electron-impact ionization and excitation of helium to the n=1-4 ionic states

We present high-precision (e; 2e) measurements and calculations for the e-He four-body Coulomb breakup problem. Cross-section ratios for ionization and excitation of the first three excited states of He+ relative to the ground state have been measured for incident energies between 112 and 319 eV. Comparing the data with predictions from a state-of-the-art hybrid distorted-wave + convergent R matrix with pseudostates (close coupling) approach shows that treating the projectile-target interaction at least to second order is crucial to obtain reasonable agreement between theory and experiment. Nevertheless, our benchmark studies reveal significant theoretical problems for the symmetric energy-sharing cases, thus indicating the need for further improvement.S. Bellm, J. Lower and K. Bartscha

Benchmark experiment and theory for near-threshold excitation of helium by electron impact

A new experimental technique has been applied to measure absolute scattering cross sections for electron impact excitation of the n ≤ 2, 3 states of helium at near-threshold energies. The experimental results are compared with predictions from recent state-of-the-art theoretical calculations. The calculations are performed using the R-matrix with pseudostates, B-spline R-matrix, and the convergent close-coupling methods. Generally, very good agreement is found between the experiment and the three theorie

U.S. adolescent and adult women\u27s experiences accessing and using toilets in schools, workplaces, and public spaces: A multi-site focus group study to inform future research in bladder health

The World Health Organization recognizes access to clean and safe toilets as crucial for public health. This study explored U.S. adolescent and adult cisgender women\u27s lived experiences accessing toilets in schools, workplaces, and public spaces. As part of the Prevention of Lower Urinary Tract Symptoms (PLUS) Research Consortium, we conducted 44 focus groups with female participants (n = 360; ages 11-93). Focus groups were stratified by age (11-14, 15-17, 18-25, 26-44, 45-64, 65+) and conducted across 7 geographically diverse U.S. sites from July 2017-April 2018. Using a transdisciplinary approach, we conducted conventional qualitative coding informed by our PLUS conceptual framework and used content analysis processes to identify salient themes. Across settings, toilet access was restricted by gatekeepers (i.e., individuals who control access to toilets). In contrast, self-restricting toilet use (deciding not to use the toilet despite biologic need to urinate) was based on internalized norms to prioritize school and job responsibilities over urination. In public spaces, self-restricting use was largely in response to lack of cleanliness. Across the life course, participants perceived gender disparities in the ability to easily access public toilets. Further research is needed to determine if and how these factors impact bladder health across the life course

Two-particle interference of electron pairs on a molecular level

We investigate the photo-doubleionization of $H_2$ molecules with 400 eV photons. We find that the emitted electrons do not show any sign of two-center interference fringes in their angular emission distributions if considered separately. In contrast, the quasi-particle consisting of both electrons (i.e. the "dielectron") does. The work highlights the fact that non-local effects are embedded everywhere in nature where many-particle processes are involved

2018 X-Ray and Radio Outburst of Magnetar XTE J1810–197

We present the earliest X-ray observations of the 2018 outburst of XTE J1810−197, the first outburst since its 2003 discovery as the prototypical transient and radio-emitting anomalous X-ray pulsar (AXP). The Monitor of All-sky X-ray Image (MAXI) detected XTE J1810−197 immediately after a November 20–26 visibility gap, contemporaneous with its reactivation as a radio pulsar, first observed on December 8. On December 13 the Nuclear Spectroscopic Telescope Array (NuSTAR) detected X-ray emission up to at least 30 keV, with a spectrum well-characterized by a blackbody plus power-law model with temperature kT = 0.74 ± 0.02 keV and photon index Γ = 4.4 ± 0.2 or by a two-blackbody model with kT = 0.59 ± 0.04 keV and kT = 1.0 ± 0.1 keV, both including an additional power-law component to account for emission above 10 keV, with Γ_h = −0.2 ± 1.5 and Γ_h = 1.5 ± 0.5, respectively. The latter index is consistent with hard X-ray flux reported for the nontransient magnetars. In the 2–10 keV bandpass, the absorbed flux is 2 × 10^(−10) erg s^(−1) cm^(−2), a factor of 2 greater than the maximum flux extrapolated for the 2003 outburst. The peak of the sinusoidal X-ray pulse lags the radio pulse by ≈0.13 cycles, consistent with their phase relationship during the 2003 outburst. This suggests a stable geometry in which radio emission originates on magnetic field lines containing currents that heat a spot on the neutron star surface. However, a measured energy-dependent phase shift of the pulsed X-rays suggests that all X-ray emitting regions are not precisely coaligned

The UTMOST Survey for Magnetars, Intermittent pulsars, RRATs and FRBs I: System description and overview

We describe the ongoing `Survey for Magnetars, Intermittent pulsars, Rotating radio transients and Fast radio bursts' (SMIRF), performed using the newly refurbished UTMOST telescope. SMIRF repeatedly sweeps the southern Galactic plane performing real-time periodicity and single-pulse searches, and is the first survey of its kind carried out with an interferometer. SMIRF is facilitated by a robotic scheduler which is capable of fully autonomous commensal operations. We report on the SMIRF observational parameters, the data analysis methods, the survey's sensitivities to pulsars, techniques to mitigate radio frequency interference and present some early survey results. UTMOST's wide field of view permits a full sweep of the Galactic plane to be performed every fortnight, two orders of magnitude faster than previous surveys. In the six months of operations from January to June 2018, we have performed $\sim 10$ sweeps of the Galactic plane with SMIRF. Notable blind re-detections include the magnetar PSR J1622$-$4950, the RRAT PSR J0941$-$3942 and the eclipsing pulsar PSR J1748$-$2446A. We also report the discovery of a new pulsar, PSR J1705$-$54. Our follow-up of this pulsar with the UTMOST and Parkes telescopes at an average flux limit of $\leq 20$ mJy and $\leq 0.16$ mJy respectively, categorizes this as an intermittent pulsar with a high nulling fraction of $< 0.002$Comment: Submitted to MNRAS, comments welcom

Searching for Lee-Wick Gauge Bosons at the LHC

In an extension of the Standard Model(SM) based on the ideas of Lee and Wick, Grinstein, O'Connell and Wise have found an interesting way to remove the usual quadratically divergent contributions to the Higgs mass induced by radiative corrections. Phenomenologically, the model predicts the existence of Terascale, negative-norm copies of the usual SM fields with rather unique properties: ghost-like propagators and negative decay widths, but with otherwise SM-like couplings. The model is both unitary and causal on macroscopic scales. In this paper we examine whether or not such states with these unusual properties can be uniquely identified as such at the LHC. We find that in the extended strong and electroweak gauge boson sector of the model, which is the simplest one to analyze, such an identification can be rather difficult. Observation of heavy gluon-like resonances in the dijet channel offers the best hope for this identification.Comment: 17 pages, 4 figs; discussion adde

High-resolution analysis of cis-acting regulatory networks at the &#945;-globin locus.

We have combined the circular chromosome conformation capture protocol with high-throughput, genome-wide sequence analysis to characterize the cis-acting regulatory network at a single locus. In contrast to methods which identify large interacting regions (10–1000 kb), the 4C approach provides a comprehensive, high-resolution analysis of a specific locus with the aim of defining, in detail, the cis-regulatory elements controlling a single gene or gene cluster. Using the human α-globin locus as a model, we detected all known local and long-range interactions with this gene cluster. In addition, we identified two interactions with genes located 300 kb (NME4) and 625 kb (FAM173a) from the α-globin cluster