73 research outputs found

    Formation of helical ion chains

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    We study the nonequilibrium dynamics of the linear to zigzag structural phase transition exhibited by an ion chain confined in a trap with periodic boundary conditions. The transition is driven by reducing the transverse confinement at a finite quench rate, which can be accurately controlled. This results in the formation of zigzag domains oriented along different transverse planes. The twists between different domains can be stabilized by the topology of the trap and under laser cooling the system has a chance to relax to a helical chain with nonzero winding number. Molecular dynamics simulations are used to obtain a large sample of possible trajectories for different quench rates. The scaling of the average winding number with different quench rates is compared to the prediction of the Kibble-Zurek theory, and a good quantitative agreement is found

    Genome-wide association and Meta-analysis of age at onset in Parkinson Disease

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    Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication cohorts. The previous largest genome-wide association studies (GWAS) identified SNCA and TMEM175 loci on chromosome (Chr) 4 with a significant influence on the AAO of PD; these have not been independently replicated. This study aims to conduct a meta-analysis of GWAS of PD AAO and validate previously observed findings in worldwide populations. Methods A meta-analysis was performed on PD AAO GWAS of 30 populations of predominantly European ancestry from the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) Consortium. This was followed by combining our study with the largest publicly available European ancestry dataset compiled by the International Parkinson Disease Genomics Consortium (IPDGC). Results The COURAGE-PD Consortium included a cohort of 8,535 patients with PD (91.9%: Europeans and 9.1%: East Asians). The average AAO in the COURAGE-PD dataset was 58.9 years (SD = 11.6), with an underrepresentation of females (40.2%). The heritability estimate for AAO in COURAGE-PD was 0.083 (SE = 0.057). None of the loci reached genome-wide significance (p < 5 × 10−8). Nevertheless, the COURAGE-PD dataset confirmed the role of the previously published TMEM175 variant as a genetic determinant of the AAO of PD with Bonferroni-corrected nominal levels of significance (p < 0.025): (rs34311866: β(SE)COURAGE = 0.477(0.203), pCOURAGE = 0.0185). The subsequent meta-analysis of COURAGE-PD and IPDGC datasets (Ntotal = 25,950) led to the identification of 2 genome-wide significant association signals on Chr 4, including the previously reported SNCA locus (rs983361: β(SE)COURAGE+IPDGC = 0.720(0.122), pCOURAGE+IPDGC = 3.13 × 10−9) and a novel BST1 locus (rs4698412: β(SE)COURAGE+IPDGC = −0.526(0.096), pCOURAGE+IPDGC = 4.41 × 10−8). Discussion Our study further refines the genetic architecture of Chr 4 underlying the AAO of the PD phenotype through the identification of BST1 as a novel AAO PD locus. These findings open a new direction for the development of treatments to delay the onset of PD

    Somatosensory modulation of perceptual vestibular detection

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    Vestibular-multisensory interactions are essential for self-motion, navigation and postural stability. Despite evidence suggesting shared brain areas between vestibular and somatosensory inputs, no study has yet investigated whether somatosensory information influences vestibular perception. Here, we used signal detection methods to identify whether somatosensory stimulation might interact with vestibular events in a vestibular detection task. Participants were instructed to detect near-threshold vestibular roll-rotation sensations delivered by galvanic vestibular stimulation in one-half of experimental trials. A vibrotactile signal occurred to the index fingers of both hands in half of the trials, independent of vestibular signals. We found that vibrotactile somatosensory stimulation decreased perceptual vestibular sensitivity. The results are compatible with a gain regulation mechanism between vestibular and somatosensory modalities

    Dipolar colloids in apolar media: direct microscopy of two-dimensional suspensions

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    Spherical colloids, in an absence of external fields, are commonly assumed to interact solely through rotationally-invariant potentials, u(r). While the presence of permanent dipoles in aqueous suspensions has been previously suggested by some experiments, the rotational degrees of freedom of spherical colloids are typically neglected. We prove, by direct experiments, the presence of permanent dipoles in commonly used spherical poly(methyl methacrylate) (PMMA) colloids, suspended in an apolar organic medium. We study, by a combination of direct confocal microscopy, computer simulations, and theory, the structure and other thermodynamical properties of organic suspensions of colloidal spheres, confined to a two-dimensional (2D) monolayer. Our studies reveal the effects of the dipolar interactions on the structure and the osmotic pressure of these fluids. These observations have far-reaching consequences for the fundamental colloidal science, opening new directions in self-assembly of complex colloidal clusters

    Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

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    Background Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. Objective We used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors. Methods We used individual data for participants of European ancestry from the Courage-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease; PD, N = 16,519) and EPITHYR (differentiated thyroid cancer, N = 3527) consortia and summary statistics of GWASs from iPDGC (International Parkinson Disease Genomics Consortium; PD, N = 482,730), Melanoma Meta-Analysis Consortium (MMAC), Breast Cancer Association Consortium (breast cancer), the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (prostate cancer), International Lung Cancer Consortium (lung cancer), and Ovarian Cancer Association Consortium (ovarian cancer) (N comprised between 36,017 and 228,951 for cancer GWASs). We estimated the genetic correlation between PD and cancers using linkage disequilibrium score regression. We studied the association between PD and polymorphisms associated with cancers, and vice versa, using cross-phenotypes polygenic risk score (PRS) analyses. Results We confirmed a previously reported positive genetic correlation of PD with melanoma (Gcorr = 0.16 [0.04; 0.28]) and reported an additional significant positive correlation of PD with prostate cancer (Gcorr = 0.11 [0.03; 0.19]). There was a significant inverse association between the PRS for ovarian cancer and PD (odds ratio [OR] = 0.89 [0.84; 0.94]). Conversely, the PRS of PD was positively associated with breast cancer (OR = 1.08 [1.06; 1.10]) and inversely associated with ovarian cancer (OR = 0.95 [0.91; 0.99]). The association between PD and ovarian cancer was mostly driven by rs183211 located in an intron of the NSF gene (17q21.31). Conclusions We show evidence in favor of a contribution of pleiotropic genes to the association between PD and specific cancers. Š 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA

    Effects of boundaries on structure formation in low-dimensional colloid model systems near the liquid-solid-transition in equilibrium and in external fields and under shear

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    A brief review focusing on low-dimensional colloidal model systems is given describing both simulation studies and complementary experiments, elucidating the interplay between phase behavior, geometric structures, and transport phenomena. These studies address the response of these very soft colloidal systems to perturbations such as uniform or uniaxial compression, laser fields, randomly quenched disorder, and shear deformation caused by moving boundaries. Binary hard-disk mixtures are studied by Monte Carlo simulation, to investigate ordering on surfaces or in monolayers, modeling the effect of a substrate by an external potential. By weak external laser fields the miscibility of the mixture can be controlled, and the underlying mechanism (laser-induced demixing) is clarified. The stability of various space-filling structures is discussed only for the case where no laser fields are present.Hard spheres interacting with repulsive screened Coulomb or dipolar interaction confined in 2D and 3D narrow constrictions are investigated by Brownian Dynamics simulation. With respect to the structural behavior, it is found that layers or planes throughout the microchannel are formed. The arrangement of the particles is disturbed by diffusion, and can also be modified by an external driving force causing a density gradient along the channel. Then the number of layers or planes gets reduced, adjusting to the density gradient, and this self-organized change of order also shows up in the particle velocities. The experimental work that is reviewed here addresses dipolar colloidal particles confined by gravity on a solid substrate on which a set of pinning sites has been randomly distributed. The dynamics of the system is studied by tracking the trajectories of individual particles, and it is found that the mean square displacements of particles that are nearest neighbors of pinned particles are strongly affected by these defects. The influence of the pinning sites on the order and microscopic mechanism of phase transitions in two dimensions is investigated
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