The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Background A subset of individuals affected by imprinting disorders displays multi-locus imprinting disturbances (MLID). MLID has been associated with maternal-effect variants that alter the maintenance of methylation at germline-derived differentially methylated regions (gDMRs) in early embryogenesis. Pedigrees of individuals with MLID also include siblings with healthy phenotype.

Discrete fluidization of dense monodisperse emulsions in neutral wetting microchannels

The rheology of pressure-driven flows of two-dimensional dense monodisperse emulsions in neutral wetting microchannels is investigated by means of mesoscopic lattice Boltzmann simulations, capable of handling large collections of droplets, in the order of several hundreds. The simulations reveal that the fluidization of the emulsion proceeds through a sequence of discrete steps, characterized by yielding events whereby layers of droplets start rolling over each other, thus leading to sudden drops of the relative effective viscosity.

Specifying and Analysing Reputation Systems with a Coordination Language

Reputation systems are nowadays widely used to support decision making in networked systems. Parties in such systems rate each other and use shared ratings to compute reputation scores that drive their interactions. The existence of reputation systems with remarkable differences calls for formal approaches to their analysis. We present a verification methodology for reputation systems that is based on the use of the coordination language Klaim and related analysis tools.

Hypoxia-regulated miRNAs in human mesenchymal stem cells: Exploring the regulatory effects in ischemic disorders

Human mesenchymal/stromal stem cells (hMSC) are the most promising cell source for adult cell therapies in regenerative medicine. Many clinical trials have reported the use of autologous transplantation of hMSCs in several disorders, but with limited results. To exert their potential, hMSCs could exhibit efficient homing and migration toward lesion sites among other effects, but the underlying process is not clear enough. To further increase the knowledge, we studied the co-regulation between hypoxia-regulated genes and miRNAs.

New gravitational self-force analytical results for eccentric equatorial orbits around a Kerr black hole: Gyroscope precession

We analytically compute the gravitational self-force correction to the gyroscope precession along slightly eccentric equatorial orbits in the Kerr spacetime, generalizing previous results for the Schwarzs-child spacetime. Our results are accurate through the 9.5 post-Newtonian order and to second order in both eccentricity and rotation parameter. We also provide a post-Newtonian check of our results based on the currently known Hamiltonian for spinning binaries.

Convergence rate of Markov chains and hybrid numerical schemes to jump-diffusions with application to the Bates model

We study the rate of weak convergence of Markov chains to diffusion processes under quite general assumptions. We give an example in the financial framework, applying the convergence analysis to a multiple jumps tree approximation of the CIR process. Then, we combine the Markov chain approach with other numerical techniques in order to handle the different components in jump- diffusion coupled models.

Drug delivery from microcapsules: How can we estimate the release time?

Predicting the release performance of a drug delivery device is an important challenge in pharmaceutics and biomedical science. In this paper, we consider a multi-layer diffusion model of drug release from a composite spherical microcapsule into an external surrounding medium. Based on this model, we present two approaches for estimating the release time, i.e. the time required for the drug-filled capsule to be depleted.

Glatiramer Acetate modulates ion channels expression and calcium homeostasis in B cell of patients with relapsing-remitting multiple sclerosis

To investigate the effects of Glatiramer Acetate (GA) on B cells by an integrated computational and experimental approach. GA is an immunomodulatory drug approved for the treatment of multiple sclerosis (MS). GA effect on B cells is yet to be fully elucidated. We compared transcriptional profiles of B cells from treatment-naive relapsing remitting MS patients, treated or not with GA for 6 hours in vitro, and of B cells before and after six months of GA administration in vivo.