Search results for "Axia"

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…

2020

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …

Dynamics of a Protein Interaction Network Associated to the Aggregation of polyQ-Expanded Ataxin-1

2020

Background: Several experimental models of polyglutamine (polyQ) diseases have been previously developed that are useful for studying disease progression in the primarily affected central nervous system. However, there is a missing link between cellular and animal models that would indicate the molecular defects occurring in neurons and are responsible for the disease phenotype in vivo. Methods: Here, we used a computational approach to identify dysregulated pathways shared by an in vitro and an in vivo model of ATXN1(Q82) protein aggregation, the mutant protein that causes the neurodegenerative polyQ disease spinocerebellar ataxia type-1 (SCA1). Results: A set of common dysregulated pathwa…

2020

Friedreich’s ataxia is the commonest autosomal recessive ataxia among population of European descent. Despite the huge advances performed in the last decades, a cure still remains elusive. One of the most studied hallmarks of the disease is the increased production of oxidative stress markers in patients and models. This feature has been the motivation to develop treatments that aim to counteract such boost of free radicals and to enhance the production of antioxidant defenses. In this work, we present and critically review those “antioxidant” drugs that went beyond the disease’s models and were approved for its application in clinical trials. The evaluation of these trials highlights some …

Anisometropia of ocular refractive and biometric measures among 66- to 79-year-old female twins

2016

Purpose To examine the prevalence of anisometropia of spherical refraction (AnisoSR), astigmatism (AnisoAST) and spherical equivalent (AnisoSE) and their associations with spherical refraction (SR), refractive astigmatism (AST), spherical equivalent (SE) and interocular differences of ocular biometric parameters among elderly female twins. Methods Refraction of 117 monozygotic (MZ) and 116 dizygotic (DZ) female twin subjects aged 66–79 years was assessed with an auto-refractor (Topcon AT) and controlled by subjective refraction. Corneal refraction, anterior chamber depth and axial length were measured with a Zeiss IOL Master. Participants with eyes operated for cataract or glaucoma were exc…

Fine tuning the management of axial spondyloarthritis

2017

Updated recommendations for the management of axial spondyloarthritis provide a useful framework for physicians treating this disease. However, the guidance on use of biologic therapies and treat-to-target strategies seems to raise more questions than it answers.

Correction

2019

ABSTRACT During gastrulation, embryonic cells become specified into distinct germ layers. In mouse, this continues throughout somitogenesis from a population of bipotent stem cells called neuromesodermal progenitors (NMps). However, the degree of self-renewal associated with NMps in the fast-developing zebrafish embryo is unclear. Using a genetic clone-tracing method, we labelled early embryonic progenitors and found a strong clonal similarity between spinal cord and mesoderm tissues. We followed individual cell lineages using light-sheet imaging, revealing a common neuromesodermal lineage contribution to a subset of spinal cord tissue across the anterior-posterior body axis. An initial pop…

Pedaleo de brazos en personas con lesión medular, parálisis cerebral o ataxia cerebelosa: Parámetros fisiológicos. [Armcrank pedaling in persons with…

2016

espanolLos desordenes neurologicos generan afectacion fisica y derivan en sedentarismo, enfermedades coronarias y obesidad o diabetes, reduciendo tanto la esperanza como la calidad de vida. La oferta de actividad fisica adaptada es escasa por falta de informacion especifica sobre la forma de adecuarlo y dosificarlo a las personas que presentan estos desordenes. Con el fin de comparar el efecto del ejercicio de pedaleo de brazos sobre la respuesta fisiologica y la percepcion del esfuerzo, en 8 personas con lesion medular, 4 con paralisis cerebral y 4 con ataxia de Friedreich, se analizo su respuesta fisiologica, asi como su percepcion subjetiva al esfuerzo, frente a un grupo Control (16 part…

Quenching of gA deduced from the β-spectrum shape of 113Cd measured with the COBRA experiment

2020

A dedicated study of the quenching of the weak axial-vector coupling strength gA in nuclear processes has been performed by the COBRA collaboration. This investigation is driven by nuclear model calculations which show that the β-spectrum shape of the fourfold forbidden non-unique decay of 113Cd strongly depends on the effective value of gA. Using an array of CdZnTe semiconductor detectors, 45 independent 113Cd spectra were obtained and interpreted in the context of three nuclear models. The resulting effective mean values are g‾A(ISM)=0.915±0.007, g‾A(MQPM)=0.911±0.013 and g‾A(IBFM-2)=0.955±0.022. These values agree well within the determined uncertainties and deviate significantly from th…

Buffer-gas-free mass-selective ion centering in Penning traps by simultaneous dipolar excitation of magnetron motion and quadrupolar excitation for i…

2012

A new excitation scheme of the radial ion-motional modes is introduced for Penning-trap ion-cyclotron-resonance experiments. By simultaneous dipolar excitation of the magnetron motion and resonant quadrupolar excitation for the conversion between magnetron motion and cyclotron motion, a mass-selective recentering of the ions of interest is performed while all other (contaminant) ions are ejected from the trap. This new technique does not rely on the application of a buffer gas as presently used [G. Savard, St. Becker, G. Bollen, H.-J. Kluge, R.B. Moore, Th. Otto, L Schweikhard, H. Stolzenberg, U. Wiess, Physics Letters A 158 (1991) 247] and will thus prevent charge-exchange reactions and da…

VLBI detection of the HST-1 feature in the M87 jet at 2 cm

2010

A bright feature 80 pc away from the core in the powerful jet of M87 shows highly unusual properties. Earlier radio, optical and X-ray observations have shown that this feature, labeled HST-1, is superluminal, and is possibly connected with the TeV flare detected by HESS in 2005. It has been claimed that this feature might have a blazar nature, due to these properties. To examine the possible blazar-like nature of HST-1, we analyzed lambda 2 cm VLBA archival data from dedicated full-track observations and the 2 cm survey/MOJAVE VLBI monitoring programs obtained between 2000 and 2009. Applying VLBI wide-field imaging techniques, the HST-1 region was imaged at milliarcsecond resolution. Here …