Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications

SummaryHereditary sensory and autonomic neuropathy type IV (HSAN-IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and mental retardation. The most frequent complications of this disease are corneal scarring, multiple fractures, joint deformities, osteomyelitis, and disabling self-mutilations. We reported the case of a 12-year-old boy. The goal was to discuss our decision-making and compare this case with cases described in the literature

Molecular Systematics of the Deep-Sea Hydrothermal Vent Endemic Brachyuran Family Bythograeidae: A Comparison of Three Bayesian Species Tree Methods

Brachyuran crabs of the family Bythograeidae are endemic to deep-sea hydrothermal vents and represent one of the most successful groups of macroinvertebrates that have colonized this extreme environment. Occurring worldwide, the family includes six genera (Allograea, Austinograea, Bythograea, Cyanagraea, Gandalfus, and Segonzacia) and fourteen formally described species. To investigate their evolutionary relationships, we conducted Maximum Likelihood and Bayesian molecular phylogenetic analyses, based on DNA sequences from fragments of three mitochondrial genes (16S rDNA, Cytochrome oxidase I, and Cytochrome b) and three nuclear genes (28S rDNA, the sodium–potassium ATPase a-subunit ‘NaK’, and Histone H3A). We employed traditional concatenated (i.e., supermatrix) phylogenetic methods, as well as three recently developed Bayesian multilocus methods aimed at inferring species trees from potentially discordant gene trees. We found strong support for two main clades within Bythograeidae: one comprising the members of the genus Bythograea; and the other comprising the remaining genera. Relationships within each of these two clades were partially resolved. We compare our results with an earlier hypothesis on the phylogenetic relationships among bythograeid genera based on morphology. We also discuss the biogeography of the family in the light of our results. Our species tree analyses reveal differences in how each of the three methods weighs conflicting phylogenetic signal from different gene partitions and how limits on the number of outgroup taxa may affect the results

GPS observables in general relativity

I present a complete set of gauge invariant observables, in the context of general relativity coupled with a minimal amount of realistic matter (four particles). These observables have a straightforward and realistic physical interpretation. In fact, the technology to measure them is realized by the Global Positioning System: they are defined by the physical reference system determined by GPS readings. The components of the metric tensor in this physical reference system are gauge invariant quantities and, remarkably, their evolution equations are local.Comment: 6 pages, 1 figure, references adde

Larval morphology of the family Parthenopidae, with the description of the megalopa stage of Derilambrus angulifrons (Latreille, 1825) (Decapoda: Brachyura), identified by DNA barcode

Although Parthenopidae is a brachyuran decapod family comprising almost 140 species, there is little knowledge about its larval morphology. There are only two complete larval developments reared in the laboratory and some larval stages described for seven species. In the present work these data are compared and analysed. A summary is made of the larval features that characterize parthenopids that can be used to distinguish them from other brachyuran larvae. In addition, the megalopa stage of Derilambrus angulifrons and Parthenopoides massena was collected from plankton and identified by DNA barcodes. The morphology of the megalopa of D. angulifrons is described for the first time, and that of P. massena is compared with a previous description

Impact of Point Spread Function Higher Moments Error on Weak Gravitational Lensing II: A Comprehensive Study

Weak gravitational lensing, or weak lensing, is one of the most powerful probes for dark matter and dark energy science, although it faces increasing challenges in controlling systematic uncertainties as \edit{the statistical errors become smaller}. The Point Spread Function (PSF) needs to be precisely modeled to avoid systematic error on the weak lensing measurements. The weak lensing biases induced by errors in the PSF model second moments, i.e., its size and shape, are well-studied. However, Zhang et al. (2021) showed that errors in the higher moments of the PSF may also be a significant source of systematics for upcoming weak lensing surveys. Therefore, the goal of this work is to comprehensively investigate the modeling quality of PSF moments from the $3^{\text{rd}}$ to $6^{\text{th}}$ order, and estimate their impact on cosmological parameter inference. We propagate the \textsc{PSFEx} higher moments modeling error in the HSC survey dataset to the weak lensing \edit{shear-shear correlation functions} and their cosmological analyses. We find that the overall multiplicative shear bias associated with errors in PSF higher moments can cause a $\sim 0.1 \sigma$ shift on the cosmological parameters for LSST Y10. PSF higher moment errors also cause additive biases in the weak lensing shear, which, if not accounted for in the cosmological parameter analysis, can induce cosmological parameter biases comparable to their $1\sigma$ uncertainties for LSST Y10. We compare the \textsc{PSFEx} model with PSF in Full FOV (\textsc{Piff}), and find similar performance in modeling the PSF higher moments. We conclude that PSF higher moment errors of the future PSF models should be reduced from those in current methods to avoid a need to explicitly model these effects in the weak lensing analysis.Comment: 24 pages, 17 figures, 3 tables; Submitted to MNRAS; Comments welcome

Relativistic Celestial Mechanics with PPN Parameters

Starting from the global parametrized post-Newtonian (PPN) reference system with two PPN parameters $\gamma$ and $\beta$ we consider a space-bounded subsystem of matter and construct a local reference system for that subsystem in which the influence of external masses reduces to tidal effects. Both the metric tensor of the local PPN reference system in the first post-Newtonian approximation as well as the coordinate transformations between the global PPN reference system and the local one are constructed in explicit form. The terms proportional to $\eta=4\beta-\gamma-3$ reflecting a violation of the equivalence principle are discussed in detail. We suggest an empirical definition of multipole moments which are intended to play the same role in PPN celestial mechanics as the Blanchet-Damour moments in General Relativity. Starting with the metric tensor in the local PPN reference system we derive translational equations of motion of a test particle in that system. The translational and rotational equations of motion for center of mass and spin of each of $N$ extended massive bodies possessing arbitrary multipole structure are derived. As an application of the general equations of motion a monopole-spin dipole model is considered and the known PPN equations of motion of mass monopoles with spins are rederived.Comment: 71 page

A coarse-grid approach to representing building blockage effects in 2D urban flood modelling

Copyright © 2012 Elsevier. NOTICE: this is the author’s version of a work that was accepted for publication in Journal of Hydrology. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Journal of Hydrology, Vol. 426-427, pp. 1-16 (March 2012), DOI: 10.1016/j.jhydrol.2012.01.007The latest information and communications technology has enabled flood modelling in urban areas using high quality terrain data to simulate the detailed flow dynamics in local areas. However, the computational cost rises exponentially as the resolution goes finer. The advance of computing hardware is still a limiting factor for large-scale area or risk/uncertainty analysis modelling with fine resolution that describes the details of building features. Grid coarsening is the straightforward way to reduce the computing efforts for 2D flood modelling. The traditional approach to grid coarsening usually takes the average elevation of a fine grid as the new terrain model for the coarse grid. This approach often results in loss of information that introduces errors to modelling. In this study, the building features in coarse grids were abstracted using the building coverage ratio (BCR) and the conveyance reduction factor (CRF) parameters in a 2D model to simulate flooding in urban areas. The outcome of 2D case studies showed the proposed model can minimise the errors due to terrain averaging and provide a much better accuracy of modelling results at a marginally increased computing cost

European regulatory agenices should employ full time statisticians

No abstract available