Purpose: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, musculoskeletal, and cutaneous anomalies caused by heterozygous loss-of-function variants in TAB2. Methods: Affected individuals were analyzed by next-generation technologies and genomic array. The presumed loss-of-function effect of identified variants was assessed by luciferase assay in cells transiently expressing TAB2 deleterious alleles. In available patients' fibroblasts, variant pathogenicity was further explored by immunoblot and osteoblast differentiation assays.

We present mesoscale numerical simulations of Rayleigh-Bénard (RB) convection in a two-dimensional model emulsion. The systems under study are constituted of finite-size droplets, whose concentration is systematically varied from small (Newtonian emulsions) to large values (non-Newtonian emulsions). We focus on the characterisation of the heat transfer properties close to the transition from conductive to convective states, where it is well known that a homogeneous Newtonian system exhibits a steady flow and a time-independent heat flux.

We present and compare some nonparametric estimation methods (wavelet and/or spline-based) designed to recover a one-dimensional piecewise-smooth regression function in both a fixed equidistant or not equidistant design regression model and a random design model.

Starting from recent experimental observations of starlings and jackdaws, we propose a minimal agent-based mathematical model for bird flocks based on a system of second-order delayed stochastic differential equations with discontinuous (both in space and time) right-hand side. The model is specifically designed to reproduce self-organized spontaneous sudden changes of direction, not caused by external stimuli like predator's attacks. The main novelty of the model is that every bird is a potential turn initiator, thus leadership is formed in a group of indistinguishable agents.

In this paper we establish the boundedness and the higher differentiability of solutions to the {div(A(x,Du))+b(x)|u(x)|u(x)=fin ?u=0on ?? under a Sobolev assumption on the partial map x->A(x,?). The novelty here is that we deal with degenerate elliptic operator A(x,?) with p-growth, p>=2, with respect to the gradient variable, in presence of lower order terms. The interplay between b(x) and f(x), introduced in ([1]), gives a regularizing effect also in the degenerate elliptic setting.

We consider 2D discrete systems, described by scalar functions and governed by periodic interaction potentials. We focus on anisotropic nearest neighbors interactions in the hexagonal lattice and on isotropic long range interactions in the square lattice. In both these cases, we perform a complete Gamma-convergence analysis of the energy induced by a configuration of discrete topological singularities. This analysis allows to prove the existence of many metastable configurations of singularities in the hexagonal lattice.

Electrical source imaging (ESI) aims at reconstructing the electrical brain activity from measurements of the electric field on the scalp. ESI is a key element in the analysis of EEG data, in both research and clinical settings. In the last twenty years several algorithms have been applied for solving the ill- posed EEG inverse problem.

In this work, we study the impact of high-energy radiation induced by solar X-ray flares on the determination of the temporal change in precipitable water vapor (?PWV) as estimated using the synthetic aperture radar (SAR) meteorology technique. As recent research shows, this radiation can significantly affect the ionospheric D-region and induces errors in the estimation of the total electron content (TEC) by the applied models.

We present a modified version of an existing lake ecosystem model, describing a trophic chain generated by nutrients, phytoplankton and zooplankton (NPZ model). The NPZ model takes into account the vertical dynamics of the biomasses of the main species. We tailor the model to specific ecosystems by including seasonality in the dynamics of the various compartments. Moreover, different species exhibit a different behaviour with respect to diffusion and to the rate of vertical movement.