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Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and joint contractures. Recessive Weill-Marchesani syndrome typically includes spherophakia, but the ocular phenotype of recessive geleophysic dysplasia is not well defined. We describe the ocular phenotype of a girl with genetically confirmed recessive geleophysic dysplasia
Permafrost soils and arctic wetlands methane emissions represent an important challenge for modeling the future climate. Here we present a process-based model designed to correctly represent the main thermal, hydrological, and biogeochemical processes related to these emissions for general land surface modeling. We propose a new multilayer soil carbon and gas module within the Interaction Soil-Bio
Vertebral augmentation is among the current standards of care to reduce pain in patients with vertebral fractures (VF), yet a lack of consensus regarding efficacy and safety of percutaneous vertebroplasty and kyphoplasty raises questions on what basis clinicians should choose one therapy over another. Given the lack of consensus in the field, the American Society for Bone and Mineral Research (ASB
Children with bone marrow failure syndromes and severe aplastic anemia (SAA) are treated with allogeneic blood or marrow transplantation (BMT). However, there is a paucity of studies examining late mortality risk after allogeneic BMT performed in childhood for bone marrow failure syndromes and SAA and evaluating how this risk differs between these diseases. We investigated cause-specific late mort
This paper presents mathematical formulations and a new numerical model GenCade that simulates beach and dune change in response to cross-shore processes of dune growth by wind and dune erosion by storms, and by gradients in longshore sand transport that will also alter shoreline position. The berm plays a central role since the potential for sand to be transported to the dune by wind depends on b
In type 1 diabetes, pancreatic beta cells are destroyed by chronic autoimmune responses. The disease develops in genetically susceptible individuals, but a role for environmental factors has been postulated. Viral infections have long been considered as candidates for environmental triggers but, given the lack of evidence for an acute, widespread, cytopathic effect in the pancreas in type 1 diabet
We present a model for the concurrent formation of globular clusters (GCs) and supermassive stars (SMSs, ≳103M⊙) to address the origin of the HeCNONaMgAl abundance anomalies in GCs. GCs form in converging gas flows and accumulate low-angular momentum gas, which accretes on to protostars. This leads to an adiabatic contraction of the cluster and an increase of the stellar collision rate. A SMS can
We fit the rotation curves of isolated dwarf galaxies to directly measure the stellar mass-halo mass relation (M*-M200) over the mass range 5 × 105 ≲ M*/M⊙ ≲ 108. By accounting for cusp-core transformations due to stellar feedback, we find a monotonic relation with little scatter. Such monotonicity implies that abundance matching should yield a similar M*- M200 if the cosmological model is correct
We present a cosmological zoom-in simulation of a Milky Way-like galaxy used to explore the formation and evolution of star clusters. We investigate in particular the origin of the bimodality observed in the colour and metallicity of globular clusters, and the environmental evolution through cosmic times in the form of tidal tensors. Our results self-consistently confirm previous findings that the
The shape and diversity of dwarf galaxy rotation curves is at apparent odds with dark matter halos in a Λ Cold Dark Matter (ΛCDM) cosmology. We use mock data from isolated dwarf galaxy simulations to show that this owes to three main effects. Firstly, stellar feedback heats dark matter, leading to a `coreNFW' dark matter density profile with a slowly rising rotation curve. Secondly, if close to a
We present new Atacama Large Millimeter/Submillimeter Array (ALMA) 850 μm continuum observations of the original Lyα Blob (LAB) in the SSA22 field at z = 3.1 (SSA22-LAB01). The ALMA map resolves the previously identified submillimeter source into three components with a total flux density of S 850 = 1.68 ± 0.06 mJy, corresponding to a star-formation rate of ∼150 M o yr-1. The submillimeter sources
We analyse circumgalactic medium (CGM) in a suite of high-resolution cosmological re-simulations of a Milky Way size galaxy and show that CGM properties are quite sensitive to details of star formation-feedback loop modelling. The simulation that produces a realistic late-type galaxy, fails to reproduce existing observations of the CGM. In contrast, simulation that does not produce a realistic gal
We describe a NOVel form of Adaptive softening (NOVA) for collisionless N-body simulations, implemented in the RAMSES adaptive mesh refinement code. In RAMSES - that we refer to as a 'standard N-body method' - cells are only split if they containmore than eight particles (amass refinement criterion). Here, we introduce an additional criterion that the particle distribution within each cell be suff
Several scenarios have been proposed to explain the presence of multiple stellar populations in globular clusters. Many of them invoke multiple generations of stars to explain the observed chemical abundance anomalies, but it has also been suggested that self-enrichment could occur via accretion of ejecta from massive stars on to the circumstellar disc of low-mass pre-main sequence stars. These sc
Gravitational instabilities play an important role in galaxy evolution and in shaping the interstellar medium (ISM). The ISM is observed to be highly turbulent, meaning that observables like the gas surface density and velocity dispersion depend on the size of the region over which they are measured. In this work, we investigate, using simulations of Milky Way-like disc galaxies with a resolution
Radiation feedback is typically implemented using subgrid recipes in hydrodynamical simulations of galaxies. Very little work has so far been performed using radiation-hydrodynamics (RHD), and there is no consensus on the importance of radiation feedback in galaxy evolution. We present RHD simulations of isolated galaxy discs of different masses with a resolution of 18 pc. Besides accounting for s
The strong time-dependence of the dynamics of galactic bars yields a complex and rapidly evolving distribution of dense gas and star forming regions. Although bars mainly host regions void of any star formation activity, their extremities can gather the physical conditions for the formation of molecular complexes and mini-starbursts. Using a sub-parsec resolution hydrodynamical simulation of a Mil
Gravitational instabilities play a primary role in shaping the clumpy structure and powering the star formation activity of gas-rich high-redshift galaxies. Here, we analyse the stability of such systems, focusing on the size and mass ranges of unstable regions in the disc. Our analysis takes into account the mass-size and linewidth-size scaling relations observed in molecular gas, originally disc
Under conservative assumptions about the Galaxy, the derived velocity of the Smith Cloud indicates that it will have undergone at least one passage of the Galactic disc. Using hydrodynamicsimulations, we examine the present-day structure of the Smith Cloud and find that a dark matter supported cloud is able to reproduce the observed present-day neutral hydrogen mass, column density distribution an
