Multimodal Imaging of Photoreceptor Structure in Choroideremia

Purpose Choroideremia is a progressive X-linked recessive dystrophy, characterized by degeneration of the retinal pigment epithelium (RPE), choroid, choriocapillaris, and photoreceptors. We examined photoreceptor structure in a series of subjects with choroideremia with particular attention to areas bordering atrophic lesions. Methods Twelve males with clinically-diagnosed choroideremia and confirmed hemizygous mutations in the CHM gene were examined. High-resolution images of the retina were obtained using spectral domain optical coherence tomography (SD-OCT) and both confocal and non-confocal split-detector adaptive optics scanning light ophthalmoscope (AOSLO) techniques. Results Eleven CHM gene mutations (3 novel) were identified; three subjects had the same mutation and one subject had two mutations. SD-OCT findings included interdigitation zone (IZ) attenuation or loss in 10/12 subjects, often in areas with intact ellipsoid zones; RPE thinning in all subjects; interlaminar bridges in the imaged areas of 10/12 subjects; and outer retinal tubulations (ORTs) in 10/12 subjects. Only split-detector AOSLO could reliably resolve cones near lesion borders, and such cones were abnormally heterogeneous in morphology, diameter and density. On split-detector imaging, the cone mosaic terminated sharply at lesion borders in 5/5 cases examined. Split-detector imaging detected remnant cone inner segments within ORTs, which were generally contiguous with a central patch of preserved retina. Conclusions Early IZ dropout and RPE thinning on SD-OCT are consistent with previously published results. Evidence of remnant cone inner segments within ORTs and the continuity of the ORTs with preserved retina suggests that these may represent an intermediate state of retinal degeneration prior to complete atrophy. Taken together, these results supports a model of choroideremia in which the RPE degenerates before photoreceptors

Neutron, electron and X-ray scattering investigation of Cr1-xVx near Quantum Criticality

The weakness of electron-electron correlations in the itinerant antiferromagnet Cr doped with V has long been considered the reason that neither new collective electronic states or even non Fermi liquid behaviour are observed when antiferromagnetism in Cr$_{1-x}$V$_{x}$ is suppressed to zero temperature. We present the results of neutron and electron diffraction measurements of several lightly doped single crystals of Cr$_{1-x}$V$_{x}$ in which the archtypal spin density wave instability is progressively suppressed as the V content increases, freeing the nesting-prone Fermi surface for a new striped charge instability that occurs at x$_{c}$=0.037. This novel nesting driven instability relieves the entropy accumulation associated with the suppression of the spin density wave and avoids the formation of a quantum critical point by stabilising a new type of charge order at temperatures in excess of 400 K. Restructuring of the Fermi surface near quantum critical points is a feature found in materials as diverse as heavy fermions, high temperature copper oxide superconductors and now even elemental metals such as Cr.Comment: 6 pages, 6 figures. Accepted to Physical Review

The All-Data-Based Evolutionary Hypothesis of Ciliated Protists with a Revised Classification of the Phylum Ciliophora (Eukaryota, Alveolata)

This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ The file attached is the published version of the article

Observation of a C-type short-range antiferromagnetic order in layer spacing expanded FeS.

We report neutron diffraction studies of FeS single crystals obtained from Rb x Fe2-y S2 single crystals via a hydrothermal method. While no 5×5 iron vacancy order or block antiferromagnetic order typical of Rb x Fe2-y S2 is found in our samples, we observe C-type short-range antiferromagnetic order with moments pointed along the c axis hosted by a different phase of FeS with an expanded interlayer spacing. The Néel temperature for this magnetic order is determined to be 170 ± 4 K. Our finding of a variant FeS structure hosting this C-type antiferromagnetic order demonstrates that the known FeS phase synthesized in this method is in the vicinity of a magnetically ordered ground state, providing insights into understanding a variety of phenomena observed in FeS and the related FeSe1-x S x iron chalcogenide system

The effect of internal pressure on the tetragonal to monoclinic structural phase transition in ReOFeAs: the case of NdOFeAs

We report the temperature dependent x-ray powder diffraction of the quaternary compound NdOFeAs (also called NdFeAsO) in the range between 300 K and 95 K. We have detected the structural phase transition from the tetragonal phase, with P4/nmm space group, to the orthorhombic or monoclinic phase, with Cmma or P112/a1 (or P2/c) space group, over a broad temperature range from 150 K to 120 K, centered at T0 ~137 K. Therefore the temperature of this structural phase transition is strongly reduced, by about ~30K, by increasing the internal chemical pressure going from LaOFeAs to NdOFeAs. In contrast the superconducting critical temperature increases from 27 K to 51 K going from LaOFeAs to NdOFeAs doped samples. This result shows that the normal striped orthorhombic Cmma phase competes with the superconducting tetragonal phase. Therefore by controlling the internal chemical pressure in new materials it should be possible to push toward zero the critical temperature T0 of the structural phase transition, giving the striped phase, in order to get superconductors with higher Tc.Comment: 9 pages, 3 figure

Small ubiquitin-related modifier (SUMO)-1, SUMO-2/3 and SUMOylation are involved with centromeric heterochromatin of chromosomes 9 and 1 and proteins of the synaptonemal complex during meiosis in men

Background: Post-transcriptional modification by SUMOylation is involved in numerous cellular processes including human spermatogenesis. For human male meiosis, we previously showed that the small ubiquitin-related modifier-1 (SUMO-1) protein localizes to chromatin axes in early pachytene spermatocytes, then to kinetochores as meiosis progresses. Here, we delineate possible functional roles based on subcellular localization for SUMO-1 and SUMO-2/3. Methods: Western and immunoprecipitation analyses were conducted on proteins isolated from the testis of two normal adult fertile men. Combinatorial immunofluorescence and chromosome-specific fluorescence in situ hybridization analyses were performed on male meiocytes obtained during testicular biopsy from four patients undergoing testicular sperm extraction for assisted reproduction technologies. Results: The synaptonemal complex (SC) and SC proteins (SCP)-1 and SCP2, but not SCP3, are SUMOylated by SUMO-1 during the pachytene substage. Likewise, two distinct localization patterns for SUMO-1 are identified: a linear pattern co-localized with autosomal SCs and isolated SUMO-1 near the centromeric heterochromatin of chromosomes 9 and 1. In contrast to SUMO-1, which is not detectable prior to pachytene in normal tissue, SUMO-2/3 is identified as early as leptotene and zygotene and in some, but not all, pachytene cells; no linear patterns were detected. Similar to SUMO-1, SUMO-2/3 localizes in two predominant subnuclear patterns: a single, dense signal near the centromere of human chromosome 9 and small, individual foci co-localized with autosomal centromeres. Conclusions: Our data suggest that SUMO-1 may be involved in maintenance and/or protection of the autosomal SC. SUMO-2/3, though expressed similarly, may function separately and independently during pachytene in men

From antiferromagnetic insulator to correlated metal in pressurized and doped LaMnPO

Widespread adoption of superconducting technologies requires the discovery of new materials with enhanced properties, especially higher superconducting transition temperatures T$_{c}$. The unexpected discovery of high T$_{c}$ superconductivity in cuprates and in materials as diverse as heavy fermions, organic conductors, and endohedrally-doped fullerenes suggests that the highest T$_{c}$s occur when pressure or doping transform the localized and moment-bearing electrons in antiferromagnetic insulators into itinerant and weakly magnetic metals. The absence of this delocalization transition in Fe-based superconductors may limit their T$_{c}$s, but even larger T$_{c}$s may be possible in their isostructural Mn analogs, which are antiferromagnetic insulators like the cuprates. It is generally believed that prohibitively large pressures would be required to suppress the strong Hund's rule coupling in these Mn-based compounds, collapsing the insulating gap and enabling superconductivity. Indeed, no Mn-based compounds are known to be superconductors. The electronic structure calculations and x-ray diffraction measurements presented here challenge these long held beliefs, finding that only modest pressures are required to transform LaMnPO, isostructural to superconducting host LaFeAsO, from an insulating tetragonal structure with a large Mn moment to a gapless orthorhombic structure with a small Mn moment. Proximity to this electronic delocalization transition in LaMnPO results in a highly interacting metallic state, the familiar breeding ground of superconductivity.Comment: 5 pages, 5 figure

Nernst effect of the new iron-based superconductor LaO1−x_{1-x}Fx_{x}FeAs

We report the first Nernst effect measurement on the new iron-based superconductor LaO$_{1-x}$F$_{x}$FeAs $(x=0.1)$. In the normal state, the Nernst signal is negative and very small. Below $T_{c}$ a large positive peak caused by vortex motion is observed. The flux flowing regime is quite large compared to conventional type-II superconductors. However, a clear deviation of the Nernst signal from normal state background and an anomalous depression of off-diagonal thermoelectric current in the normal state between $T_{c}$ and 50 K are observed. We propose that this anomaly in the normal state Nernst effect could correlate with the SDW fluctuations.Comment: 8 pages, 4 figures; Latex file changed, references adde