Electric-field noise from carbon-adatom diffusion on a Au(110) surface: first-principles calculations and experiments

The decoherence of trapped-ion quantum gates due to heating of their motional modes is a fundamental science and engineering problem. This heating is attributed to electric-field noise arising from the trap-electrode surfaces. In this work, we investigate the source of this noise by focusing on the diffusion of carbon-containing adsorbates on the surface of Au(110). We show by density functional theory, based on detailed scanning probe microscopy, how the carbon adatom diffusion on the gold surface changes the energy landscape, and how the adatom dipole moment varies with the diffusive motion. A simple model for the diffusion noise, which varies quadratically with the variation of the dipole moment, qualitatively reproduces the measured noise spectrum, and the estimate of the noise spectral density is in accord with measured values.Comment: 8 pages, 6 figure

Phenotypic heterogeneity in females with X-linked Alport syndrome

Aims: X-linked Alport syndrome (AS) is a monogenic inherited disorder of type IV collagen, a structural protein in the kidney and cochlea. Males typically exhibit a severe phenotype with end-stage renal disease (ESRD) and/or deafness by early adulthood. Because of the presence of two X chromosomes, females often have a less severe phenotype and hence the diagnosis of AS is often not considered. Herein, we present a case of an adolescent girl with proteinuria and hematuria in the setting of a strong family history of AL. Case report: The mother and maternal aunt of the proband had both presented with dipstick positive hematuria and proteinuria at age 8 years. These girls were not evaluated by nephrology until mid-adolescence when they had worsening creatinine levels. Kidney biopsy in the younger sister demonstrated segmental glomerulosclerosis with segmental thinning and lamination of the glomerular basement membrane, consistent with AS. Kidney biopsy in the older sister was performed just prior to the need for renal replacement therapy and showed only global glomerulosclerosis. Both sisters were transplanted by the age of 20 years. Their mother subsequently developed ESRD at age 53 years. With the advent of genetic testing, the proband and her family were brought in for evaluation. It had been assumed this family of AS had autosomal dominant transmission, however, genetic testing of the proband was positive for a splice site mutation of COL4A5 located on the X-chromosome. Sequencing of genes COL4A3, COL4A4, and COL4A6 were negative for mutation. Conclusions: The current case report demonstrates the importance of considering skewed X-inactivation in females who exhibit signs or symptoms of X-linked disorders

A novel TRPC6 mutation in a family with podocytopathy and clinical variability

Abstract Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases

The Song Describer dataset: a corpus of audio captions for music-and-language evaluation

We introduce the Song Describer dataset (SDD), a new crowdsourced corpus of high-quality audio-caption pairs, designed for the evaluation of music-and-language models. The dataset consists of 1.1k human-written natural language descriptions of 706 music recordings, all publicly accessible and released under Creative Common licenses. To showcase the use of our dataset, we benchmark popular models on three key music-and-language tasks (music captioning, text-to-music generation and music-language retrieval). Our experiments highlight the importance of cross dataset evaluation and offer insights into how researchers can use SDD to gain a broader understanding of model performance

Crystal and electronic structures of A2NaIO6 periodate double perovskites (A = Sr, Ca, Ba): candidate wasteforms for I-129 immobilization

The synthesis, structure, and thermal stability of the periodate double perovskites A2NaIO6 (A= Ba, Sr, Ca) were investigated in the context of potential application for the immobilization of radioiodine. A combination of X-ray diffraction and neutron diffraction, Raman spectroscopy, and DFT simulations were applied to determine accurate crystal structures of these compounds and understand their relative stability. The compounds were found to exhibit rock-salt ordering of Na and I on the perovskite B-site; Ba2NaIO6 was found to adopt the Fm-3m aristotype structure, whereas Sr2NaIO6 and Ca2NaIO6 adopt the P21/n hettotype structure, characterized by cooperative octahedral tilting. DFT simulations determined the Fm-3m and P21/n structures of Ba2NaIO6 to be energetically degenerate at room temperature, whereas diffraction and spectroscopy data evidence only the presence of the Fm-3m phase at room temperature, which may imply an incipient phase transition for this compound. The periodate double perovskites were found to exhibit remarkable thermal stability, with Ba2NaIO6 only decomposing above 1050 °C in air, which is apparently the highest recorded decomposition temperature so far recorded for any iodine bearing compound. As such, these compounds offer some potential for application in the immobilization of iodine-129, from nuclear fuel reprocessing, with an iodine incorporation rate of 25–40 wt%. The synthesis of these compounds, elaborated here, is also compatible with both current conventional and future advanced processes for iodine recovery from the dissolver off-gas

Sequence-Specific DNA Recognition by Steroidogenic Factor 1: A Helix at the Carboxy-Terminus of the DNA Binding Domain is Necessary for Complex Stability

Abbreviated title: Structure-Function of SF1-DNA Interactions Key words: SF1; nuclear hormone receptor; DNA recognition; NMR; solution structure Disclosure of Potential Conflicts of Interest: K.E.M. has consulted for World Book Science Inc., has equity interests in Ligand Pharmaceuticals Inc., and received lecture fees from Serono Inc., but has no conflicts with entities directly related to the material being published. All other authors have nothing to disclose. This is an un-copyedited author manuscript copyrighted by The Endocrine Society. This may not be duplicated or reproduced, other than for personal use or within the rule of "Fair Use of Copyrighted Materials" (section 107, Title 17, U.S. Code) without permission of the copyright owner, The Endocrine Society. From the time of acceptance following peer review, the full text of this manuscript is made freely available by The Endocrine Society at http://www.endojournals.org/. The final copy edited article can be found at http://www.endojournals.org/. The Endocrine Society disclaims any responsibility or liability for errors or omissions in this version of the manuscript or in any version derived from it by the National Institutes of Health or other parties. base-pair DNA sequences as a monomer. Here we describe the solution structure of the SF1 DBD in complex with an atypical sequence in the proximal promoter region of the inhibingene that encodes a subunit of a reproductive hormone. SF1 forms a specific complex with the DNA through a bipartite motif binding to the major and minor grooves through the core DBD and the N-terminal segment of the FTZ-F1 box, respectively, in a manner previously described for two other monomeric receptors, NGFI-B and ERR2. However, unlike these receptors, SF1 harbors a helix in the C-terminal segment of the FTZ-F1 box that interacts with both the core DBD and DNA and serves as an important determinant of stability of the complex. We propose that the FTZ-F1 helix along with the core DBD serves as a platform for interactions with coactivators and other DNA-bound factors in the vicinity.

Two chemically similar stellar overdensities on opposite sides of the plane of the Galaxy

Our Galaxy is thought to have undergone an active evolutionary history dominated by star formation, the accretion of cold gas, and, in particular, mergers up to 10 gigayear ago. The stellar halo reveals rich fossil evidence of these interactions in the form of stellar streams, substructures, and chemically distinct stellar components. The impact of dwarf galaxy mergers on the content and morphology of the Galactic disk is still being explored. Recent studies have identified kinematically distinct stellar substructures and moving groups, which may have extragalactic origin. However, there is mounting evidence that stellar overdensities at the outer disk/halo interface could have been caused by the interaction of a dwarf galaxy with the disk. Here we report detailed spectroscopic analysis of 14 stars drawn from two stellar overdensities, each lying about 5 kiloparsecs above and below the Galactic plane - locations suggestive of association with the stellar halo. However, we find that the chemical compositions of these stars are almost identical, both within and between these groups, and closely match the abundance patterns of the Milky Way disk stars. This study hence provides compelling evidence that these stars originate from the disk and the overdensities they are part of were created by tidal interactions of the disk with passing or merging dwarf galaxies.Comment: accepted for publication in Natur

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

As genome-scale sequencing is increasingly applied in clinical scenarios, a wide variety of genomic findings will be discovered as secondary or incidental findings, and there is debate about how they should be handled. The clinical actionability of such findings varies, necessitating standardized frameworks for a priori decision making about their analysis

College of American Pathologists\u27 Laboratory Standards for Next-Generation Sequencing Clinical Tests

Context.-The higher throughput and lower per-base cost of next-generation sequencing (NGS) as compared to Sanger sequencing has led to its rapid adoption in clinical testing. The number of laboratories offering NGS-based tests has also grown considerably in the past few years, despite the fact that specific Clinical Laboratory Improvement Amendments of 1988/College of American Pathologists (CAP) laboratory standards had not yet been developed to regulate this technology. Objective.-To develop a checklist for clinical testing using NGS technology that sets standards for the analytic wet bench process and for bioinformatics or \u27\u27 dry bench\u27\u27 analyses. As NGS-based clinical tests are new to diagnostic testing and are of much greater complexity than traditional Sanger sequencing-based tests, there is an urgent need to develop new regulatory standards for laboratories offering these tests. Design.-To develop the necessary regulatory framework for NGS and to facilitate appropriate adoption of this technology for clinical testing, CAP formed a committee in 2011, the NGS Work Group, to deliberate upon the contents to be included in the checklist. Results.-A total of 18 laboratory accreditation checklist requirements for the analytic wet bench process and bioinformatics analysis processes have been included within CAP\u27s molecular pathology checklist (MOL). Conclusions.-This report describes the important issues considered by the CAP committee during the development of the new checklist requirements, which address documentation, validation, quality assurance, confirmatory testing, exception logs, monitoring of upgrades, variant interpretation and reporting, incidental findings, data storage, version traceability, and data transfer confidentiality