Background Fabry disease is a rare X‐linked disorder caused by deficient activity of the lysosomal enzyme α‐galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells ...throughout the body leads to major organ failure and premature death. In response to the recent introduction of enzyme replacement therapy, the Fabry Outcome Survey (FOS) was established to pool data from European clinics on the natural history of this little‐known disease and to monitor the long‐term efficacy and safety of treatment. This paper presents the first analysis of the FOS database and provides essential baseline data against which the effects of enzyme replacement can be measured.
Design Baseline data from a cohort of 366 patients from 11 European countries were analysed in terms of demography and clinical manifestations of Fabry disease.
Results Misdiagnosis of Fabry disease is common, and the mean delay from onset of symptoms to correct diagnosis was 13·7 and 16·3 years in males and females, respectively. Although previously thought to have serious manifestations only in hemizygous men, the FOS database has confirmed that females heterozygous for Fabry disease are similarly affected. Furthermore, signs and symptoms of Fabry disease may be present from early childhood.
Conclusions With the advent of enzyme replacement therapy, it is important that general practitioners and physicians in a range of specialties recognize the signs and symptoms of Fabry disease so that effective treatment can be given. Baseline data from FOS demonstrate that enzyme replacement therapy should not be restricted to hemizygous men, but should be considered for both heterozygous females and children.
We present a convenient, all-in-one framework for the scientific analysis of fully reduced, (integral-field) spectroscopic data. The Galaxy IFU Spectroscopy Tool (GIST) is entirely written in Python ...3 and conducts all the steps from the preparation of input data to the scientific analysis and to the production of publication-quality plots. In its basic set-up, it extracts stellar kinematics, performs an emission-line analysis, and derives stellar population properties from full spectral fitting and via the measurement of absorption line-strength indices by exploiting the well-known pPXF and GandALF routines, where the latter has now been implemented in Python. The pipeline is not specific to any instrument or analysis technique and provides easy means of modification and further development, thanks to its modular code architecture. An elaborate, Python-native parallelisation is implemented and tested on various machines. The software further features a dedicated visualisation routine with a sophisticated graphical user interface. This allows an easy, fully interactive plotting of all measurements, spectra, fits, and residuals, as well as star formation histories and the weight distribution of the models. The pipeline has been successfully applied to both low- and high-redshift data from MUSE, PPAK (CALIFA), and SINFONI, and to simulated data for HARMONI and WEAVE and is currently being used by the TIMER, Fornax3D, and PHANGS collaborations. We demonstrate its capabilities by applying it to MUSE TIMER observations of NGC 1433.
We investigate the low loss acoustic motion of superfluid 4He parametrically coupled to a very low loss, superconducting Nb microwave resonator, forming a gram-scale, sideband resolved, ...optomechanical system. We demonstrate the detection of a series of acoustic modes with quality factors as high as . At higher temperatures, the lowest dissipation modes are limited by an intrinsic three phonon process. Acoustic quality factors approaching 1011 may be possible in isotopically purified samples at temperatures below 10 mK. A system of this type may be utilized to study macroscopic quantized motion and as a freqency tunable, ultra-sensitive sensor of extremely weak displacements and forces, such as continuous gravity wave sources.
ABSTRACT
This series of papers aims at understanding the formation and evolution of non-barred disc galaxies. We use the new spectro-photometric decomposition code, c2d, to separate the spectral ...information of bulges and discs of a statistically representative sample of galaxies from the CALIFA survey. Then, we study their stellar population properties analysing the structure-independent datacubes with the Pipe3D algorithm. We find a correlation between the bulge-to-total (B/T) luminosity (and mass) ratio and galaxy stellar mass. The B/T mass ratio has only a mild evolution with redshift, but the bulge-to-disc (B/D) mass ratio shows a clear increase of the disc component since redshift z < 1 for massive galaxies. The mass–size relation for both bulges and discs describes an upturn at high galaxy stellar masses (log (M⋆/M⊙) > 10.5). The relation holds for bulges but not for discs when using their individual stellar masses. We find a negligible evolution of the mass–size relation for both the most massive ($\log {(M_{\star \rm ,b,d}/{\rm M}_{\odot })} \gt 10$) bulges and discs. For lower masses, discs show a larger variation than bulges. We also find a correlation between the Sérsic index of bulges and both galaxy and bulge stellar mass, which does not hold for the disc mass. Our results support an inside-out formation of nearby non-barred galaxies, and they suggest that (i) bulges formed early-on and (ii) they have not evolved much through cosmic time. However, we find that the early properties of bulges drive the future evolution of the galaxy as a whole, and particularly the properties of the discs that eventually form around them.
ABSTRACT
The star formation main sequence (SFMS) is a tight relation between the galaxy star formation rate (SFR) and its total stellar mass (M⋆). Early-type galaxies (ETGs) are often considered as ...low-SFR outliers of this relation. We study, for the first time, the separated distribution in the SFR versus M⋆ of bulges and discs of 49 ETGs from the CALIFA survey. This is achieved using c2d, a new code to perform spectrophotometric decompositions of integral field spectroscopy data cubes. Our results reflect that: (i) star formation always occurs in the disc component and not in bulges; (ii) star-forming discs in our ETGs are compatible with the SFMS defined by star-forming galaxies at z ∼ 0; (iii) the star formation is not confined to the outskirts of discs, but it is present at all radii (even where the bulge dominates the light); (iv) for a given mass, bulges exhibit lower sSFR than discs at all radii; and (v) we do not find a deficit of molecular gas in bulges with respect to discs for a given mass in our ETGs. We speculate our results favour a morphological quenching scenario for ETGs.
ABSTRACT
We report on the detection of a small contribution (around and below 1 per cent in mass) from young stellar components with ages ≤20 Myr in low-mass galaxies purposely selected from the ...MaNGA survey to be already-quenched systems. Among the sample of 28 galaxies, 8 of them show signatures of having suffered a very recent burst of star formation. The detection has been done through the analysis of line-strength indices in the red spectral range 5700,8800 Å. The increasing contribution of red supergiants to this red regime is responsible for a deviation of the index measurements with respect to their position within the model grids in the standard spectral range 3600,5700 Å. We demonstrate that a combination of red indices, as well as a qualitative assessment of the mean luminosity-weighted underlying stellar population, is required in order to distinguish between a true superyoung population and other possible causes of this deviation, such as abundance ratio variations. Our result implies that many presumably quenched low-mass galaxies actually contain gas that is triggering some level of star formation. They have, therefore, either accreted external gas, internally recycled enough gas from stellar evolution to trigger new star formation, or they kept a gas reservoir after the harassment or stripping process that quenched them in the first place. Internal processes are favoured since we find no particular trends between our non-quenched galaxies and their environment, although more work is needed to fully discard an external influence.
Abstract
Galaxies are complex systems made up of different structural components such as bulges, discs, and bars. Understanding galaxy evolution requires unveiling, independently, their history of ...stellar mass and metallicity assembly. We introduce c2d, a new algorithm to perform spectro-photometric multicomponent decompositions of integral field spectroscopy (IFS) datacubes. The galaxy surface-brightness distribution at each wavelength (quasi-monochromatic image) is fitted using GASP2D, a 2D photometric decomposition code. As a result, c2d provides both a characteristic one-dimensional spectra and a full datacube with all the spatial and spectral information for every component included in the fit. We show the basic steps of the c2d spectro-photometric fitting procedure, tests on mock datacubes demonstrating its reliability, and a first application of c2d to a sample of three early-type galaxies (ETGs) observed within the Calar Alto Legacy Integral Field Area survey. The resulting datacubes from c2d are processed through the Pipe3D pipeline obtaining both the stellar populations and ionized gas properties of bulges and discs. This paper presents an overview of the potential of c2d + Pipe3D to unveil the formation and evolution of galaxies.
AimsHyperphosphorylated tau neuronal cytoplasmic inclusions (ht‐NCI) are the best protein correlate of clinical decline in Alzheimer's disease (AD). Qualitative evidence identifies ht‐NCI ...accumulating in the isodendritic core before the entorhinal cortex. Here, we used unbiased stereology to quantify ht‐NCI burden in the locus coeruleus (LC) and dorsal raphe nucleus (DRN), aiming to characterize the impact of AD pathology in these nuclei with a focus on early stages.MethodsWe utilized unbiased stereology in a sample of 48 well‐characterized subjects enriched for controls and early AD stages. ht‐NCI counts were estimated in 60‐μm‐thick sections immunostained for p‐tau throughout LC and DRN. Data were integrated with unbiased estimates of LC and DRN neuronal population for a subset of cases.ResultsIn Braak stage 0, 7.9% and 2.6% of neurons in LC and DRN, respectively, harbour ht‐NCIs. Although the number of ht‐NCI+ neurons significantly increased by about 1.9× between Braak stages 0 to I in LC (P = 0.02), we failed to detect any significant difference between Braak stage I and II. Also, the number of ht‐NCI+ neurons remained stable in DRN between all stages 0 and II. Finally, the differential susceptibility to tau inclusions among nuclear subdivisions was more notable in LC than in DRN.ConclusionsLC and DRN neurons exhibited ht‐NCI during AD precortical stages. The ht‐NCI increases along AD progression on both nuclei, but quantitative changes in LC precede DRN changes.
Stereological analysis of tau pathology in the locus coeruleus and dorsal raphe nucleus in early Alzheimer's disease demonstrate that early involvement of brain stem nuclei has important functional implications.
Direct detection of gravitational waves is opening a new window onto our universe. Here, we study the sensitivity to continuous-wave strain fields of a kg-scale optomechanical system formed by the ...acoustic motion of superfluid helium-4 parametrically coupled to a superconducting microwave cavity. This narrowband detection scheme can operate at very high Q-factors, while the resonant frequency is tunable through pressurization of the helium in the 0.1-1.5 kHz range. The detector can therefore be tuned to a variety of astrophysical sources and can remain sensitive to a particular source over a long period of time. For thermal noise limited sensitivity, we find that strain fields on the order of h ∼ 10 − 23 Hz are detectable. Measuring such strains is possible by implementing state of the art microwave transducer technology. We show that the proposed system can compete with interferometric detectors and potentially surpass the gravitational strain limits set by them for certain pulsar sources within a few months of integration time.
Endothelial dysfunction is a well-known component of the pathophysiology of heart failure (HF), with proven prognostic value. Dietary supplementation with whey protein (WP) has been widely used to ...increase skeletal muscle mass, but it also has vascular effects, which are less understood. This study aimed to evaluate the effects of WP supplementation on the systemic microvascular function of HF patients. This was a blinded, randomized, placebo-controlled clinical trial that evaluated the effects of 12-week WP dietary supplementation on systemic microvascular function, in patients with HF New York Heart Association (NYHA) classes I/II. Cutaneous microvascular flow and reactivity were assessed using laser speckle contrast imaging, coupled with pharmacological local vasodilator stimuli. Fifteen patients (aged 64.5±6.2 years, 11 males) received WP supplementation and ten patients (aged 68.2±8.8 years, 8 males) received placebo (maltodextrin). The increase in endothelial-dependent microvascular vasodilation, induced by skin iontophoresis of acetylcholine, was improved after WP (P=0.03) but not placebo (P=0.37) supplementation. Moreover, endothelial-independent microvascular vasodilation induced by skin iontophoresis of sodium nitroprusside, was also enhanced after WP (P=0.04) but not placebo (P=0.42) supplementation. The results suggested that dietary supplementation with WP improved systemic microvascular function in patients with HF.
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