Diversity among posterior thalamoperforating branches originated from P1 segment: systematic review

Background: The P1 segment of the posterior cerebral artery (PCA) begins at the termination of the basilar artery and ends at the origin of posterior commu­nicating artery, within the interpeduncular cistern. Perforating branches arising from this segment are called posterior thalamoperforating arteries (TPAs) and the main and biggest artery among those is called TPA. Perforating branches are a crucial component of cerebrovascular system supplying the posterior part of the thalamus, subthalamus, hypothalamus, substantia nigra, perforated substance, posterior part of internal capsule and the nucleus of III and IV cranial nerve. It is very important for neurosurgeon to know the anatomy of perforating branches because of their susceptibility to injury. The aim of this study is to determine the morphometry of posterior TPAs and allow a better understanding of their bran­ching patterns and relation to basilar artery. Materials and methods: An extensive search was undertaken in order to identify published literature related to the posterior cerebral circulation system and the anatomy of posterior TPAs using key words. Medline, Embase, Ovid and Google Scholar databases were searched for publications dated from 1970 until July 2016. We collected and analysed all the data describing the mean number of branches per P1 segment, range of branches, number of analysed PCA, largest diameter of TPA, mean diameter of TPA and average distance from the basilar artery bifurcation. Results: Thirteen cadaver studies were analysed and the data was extracted. We focused on the mean number of branches arising from P1 segment, perforators range, mean diameter of perforating branches, largest diameter of perforating branches. Conclusions: Mean number of branches per hemisphere was 2.91 (min. 1.51, max. 4.1). In more than half of analysed studies, authors did not find any pre­sence of posterior TPAs. Mean diameter of those perforators was 0.51 mm (min. 0.125 mm, max. 0.8 mm). Average distance from basilar artery bifurcation was 2.29 mm (min. 1.93 mm, max. 2.75 mm). There were many branching patterns presented by different authors

On the Alexandrov Topology of sub-Lorentzian Manifolds

It is commonly known that in Riemannian and sub-Riemannian Geometry, the metric tensor on a manifold defines a distance function. In Lorentzian Geometry, instead of a distance function it provides causal relations and the Lorentzian time-separation function. Both lead to the definition of the Alexandrov topology, which is linked to the property of strong causality of a space-time. We studied three possible ways to define the Alexandrov topology on sub-Lorentzian manifolds, which usually give different topologies, but agree in the Lorentzian case. We investigated their relationships to each other and the manifold's original topology and their link to causality.Comment: 20 page

Reversing a granular flow on a vibratory conveyor

Experimental results are presented on the transport properties of granular materials on a vibratory conveyor. For circular oscillations of the shaking trough a non-monotonous dependence of the transport velocity on the normalized acceleration is observed. Two maxima are separated by a regime, where the granular flow is much slower and, in a certain driving range, even reverses its direction. A similar behavior is found for a single solid body with a low coefficient of restitution, whereas an individual glass bead of 1 mm diameter is propagated in the same direction for all accelerations.Comment: 4 pages, 5 figures, submitted to Applied Physics Letter

Nanoscale phase separation and pseudogap in the hole-doped cuprates from fluctuating Cu-O-Cu bonds

The pseudogap phenomenology is one of the enigmas of the physics of high-Tc superconductors. Many members of the cuprate family have now been experimentally characterized with high resolution in both real and momentum space, which revealed highly anisotropic Fermi arcs and local domains which break rotational symmetry in the CuO2 plane at the intraunit cell level. While most theoretical approaches to date have focused on the role of electronic correlations and dopinginduced disorder to explain these features, we show that many features of the pseudogap phase can be reproduced by considering the interplay between electronic and nonlinear electron-phonon interactions within a model of fluctuating Cu-O-Cu bonds. Remarkably, we find that electronic segregation arises naturally without the need to explicitly include disorder. Our approach points not only to the key role played by the oxygen bond in the pseudogap phase, but opens different directions to explore how nonequilibrium lattice excitations can be used to control the properties of the pseudogap phase.This work has been supported by the Spanish Ministry MINECO (National Plan 15 Grant: FISICATEAMO No. FIS2016-79508-P, SEVERO OCHOA No. SEV2015-0522, FPI), European Social Fund, Fundacio Cellex, Generalitat de Catalunya (AGAUR Grant No. 2017 SGR 1341 and CERCA/Program), EU FEDER, ERC AdG OSYRIS and NOQIA, ERC StG SEESUPER, EU FETPRO QUIC, and the National Science Centre, PolandSymfonia Grant No. 2016/20/W/ST4/00314. A.D. was financed by a Juan de la Cierva fellowship (IJCI-2017- 33180). R.W.C. acknowledges funding from the Polish National Center via Miniatura-2 Program Grant No. 2018/02/X/ST3/01718.Peer ReviewedPostprint (author's final draft

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five unrelated neonates with a lethal metabolic disorder characterized by cardiomyopathy, corneal opacities, encephalopathy, hypotonia, and seizures in whom a monoallelic reciprocal duplication at the ATAD3 locus was identified. Analysis of the breakpoint junction fragment indicated that these 67 kb heterozygous duplications were likely mediated by non-allelic homologous recombination at regions of high sequence identity in ATAD3A exon 11 and ATAD3C exon 7. At the recombinant junction, the duplication allele produces a fusion gene derived from ATAD3A and ATAD3C, the protein product of which lacks key functional residues. Analysis of fibroblasts derived from two affected individuals shows that the fusion gene product is expressed and stable. These cells display perturbed cholesterol and mitochondrial DNA organization similar to that observed for individuals with severe ATAD3A deficiency. We hypothesize that the fusion protein acts through a dominant-negative mechanism to cause this fatal mitochondrial disorder. Our data delineate a molecular diagnosis for this disorder, extend the clinical spectrum associated with structural variation at the ATAD3 locus, and identify a third mutational mechanism for ATAD3 gene cluster variants. These results further affirm structural variant mutagenesis mechanisms in sporadic disease traits, emphasize the importance of copy number analysis in molecular genomic diagnosis, and highlight some of the challenges of detecting and interpreting clinically relevant rare gene rearrangements from next-generation sequencing data

The phase diagram for the binary system indium-tellurium and electrical properties of In3Te5

The phase diagram for the binary system indium-tellurium has been clarified and corrected, particularly in the region near the composition In2Te3. This material is a potentially important semiconductor, either alone or in combination with other materials, such as Cu3Te, Ag2Te, CdTe, etc.Results of this study were obtained by correlating differential thermal analysis (DTA), chemical analyses of zone-refined ingots, microscopic analysis, and X-ray determinations.Two new phases have been identified, and the compositions of three other phases have been determined more precisely. (1) The phase In2Te (33.3 at. %Te) does not exist; the composition should be In9Te7 (43 at. %Te). The peritectic decomposition temperature is 462[deg]C. (2) The phase InTe (50.0 at. % Te) has the composition In30Te31 (50.8 at. % Te). The congruent melting point is 696[deg]C. (3) A new phase In3Te4 (57.0 at. % Te) has been found having a peritectic decomposition temperature of 650[deg]C. (4) The phase In2Te3 (60.0 at. % Te) has the composition In27Te40 (59.7 at.% Te). The congruent melting point is 667[deg]C, and there is a phase transition at about 550[deg]C. (5) A new phase In3Te5 (62.5 at. % Te) has been found, having a peritectic decomposition temperature of 625[deg]C, and a phase transition at 463[deg]C. (6) The phase In2Te5 (71.5 at. % Te) was prepared. (7) Electrical measurements on In3Te5 show a large conductivity increase associated with the phase transition at 463[deg]C. (8) Electrical measurements on zone refined In2Te3, were non-reproducible.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/32121/1/0000172.pd

Characterization of growth and metabolism of the haloalkaliphile Natronomonas pharaonis

Natronomonas pharaonis is an archaeon adapted to two extreme conditions: high salt concentration and alkaline pH. It has become one of the model organisms for the study of extremophilic life. Here, we present a genome-scale, manually curated metabolic reconstruction for the microorganism. The reconstruction itself represents a knowledge base of the haloalkaliphile's metabolism and, as such, would greatly assist further investigations on archaeal pathways. In addition, we experimentally determined several parameters relevant to growth, including a characterization of the biomass composition and a quantification of carbon and oxygen consumption. Using the metabolic reconstruction and the experimental data, we formulated a constraints-based model which we used to analyze the behavior of the archaeon when grown on a single carbon source. Results of the analysis include the finding that Natronomonas pharaonis, when grown aerobically on acetate, uses a carbon to oxygen consumption ratio that is theoretically near-optimal with respect to growth and energy production. This supports the hypothesis that, under simple conditions, the microorganism optimizes its metabolism with respect to the two objectives. We also found that the archaeon has a very low carbon efficiency of only about 35%. This inefficiency is probably due to a very low P/O ratio as well as to the other difficulties posed by its extreme environment

Quantum time dilation in a gravitational field

According to relativity, the reading of an ideal clock is interpreted as the elapsed proper time along its classical trajectory through spacetime. In contrast, quantum theory allows the association of many simultaneous trajectories with a single quantum clock, each weighted appropriately. Here, we investigate how the superposition principle affects the gravitational time dilation observed by a simple clock – a decaying two-level atom. Placing such an atom in a superposition of positions enables us to analyze a quantum contribution to a classical time dilation manifest in spontaneous emission. In particular, we show that the emission rate of an atom prepared in a coherent superposition of separated wave packets in a gravitational field is different from the emission rate of an atom in a classical mixture of these packets, which gives rise to a quantum gravitational time dilation effect. We demonstrate that this nonclassical effect also manifests in a fractional frequency shift of the internal energy of the atom that is within the resolution of current atomic clocks. In addition, we show the effect of spatial coherence on the atom's emission spectrum

NODAL Variants Are Associated With a Continuum of Laterality Defects From Simple D-Transposition of the Great Arteries to Heterotaxy

BACKGROUND: NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and characterize a broader range of NODAL variants in a large number of individuals with laterality defects. METHODS: We re-analyzed a cohort of 321 proband-only exomes of individuals with clinically diagnosed laterality congenital heart disease (CHD) using family-based, rare variant genomic analyses. To this cohort we added 12 affected subjects with known NODAL variants and CHD from institutional research and clinical cohorts to investigate an allelic series. For those with candidate contributory variants, variant allele confirmation and segregation analysis were studied by Sanger sequencing in available family members. Array comparative genomic hybridization and droplet digital PCR were utilized for copy number variants (CNV) validation and characterization. We performed Human Phenotype Ontology (HPO)-based quantitative phenotypic analyses to dissect allele-specific phenotypic differences. RESULTS: Missense, nonsense, splice site, indels, and/or structural variants of NODAL were identified as potential causes of heterotaxy and other laterality defects in 33 CHD cases. We describe a recurrent complex indel variant for which the nucleic acid secondary structure predictions implicate secondary structure mutagenesis as a possible mechanism for formation. We identified two CNV deletion alleles spanning NODAL in two unrelated CHD cases. Furthermore, 17 CHD individuals were found (16/17 with known Hispanic ancestry) to have the c.778G \u3e A:p.G260R NODAL missense variant which we propose reclassification from variant of uncertain significance (VUS) to likely pathogenic. Quantitative HPO-based analyses of the observed clinical phenotype for all cases with p.G260R variation, including heterozygous, homozygous, and compound heterozygous cases, reveal clustering of individuals with biallelic variation. This finding provides evidence for a genotypic-phenotypic correlation and an allele-specific gene dosage model. CONCLUSION: Our data further support a role for rare deleterious variants in NODAL as a cause for sporadic human laterality defects, expand the repertoire of observed anatomical complexity of potential cardiovascular anomalies, and implicate an allele specific gene dosage model