Recurrent focal neuropathy with liability to pressure palsies is a relatively frequent autosomal-dominant demyelinating neuropathy linked to peripheral myelin protein 22 (PMP22) gene deletions. The combination of PMP22 gene mutations with other genetic variants is known to cause a more severe phenotype than expected. We present the case of a patient with severe orthostatic hypotension since 12 years of age, who inherited a PMP22 gene deletion from his father. Genetic double trouble was suspected because of selective sympathetic autonomic disturbances.

Imprinting Control Regions (ICRs) need to maintain their parental allele-specific DNA methylation during early embryogenesis despite genome-wide demethylation and subsequent de novo methylation. ZFP57 and KAP1 are both required for maintaining the repressive DNA methylation and H3-lysine-9-trimethylation (H3K9me3) at ICRs. In vitro, ZFP57 binds a specific hexanucleotide motif that is enriched at its genomic binding sites.

In this study, we investigated by in silico analysis the possible correlation between microRNAs (miRNAs) and Anamnia V-SINEs (a superfamily of short interspersed nuclear elements), which belong to those retroposon families that have been preserved in vertebrate genomes for millions of years and are actively transcribed because they are embedded in the 3? untranslated region (UTR) of several genes. We report the results of the analysis of the genomic distribution of these mobile elements in zebrafish (Danio rerio) and discuss their involvement in generating miRNA gene loci.

Solutions to the n-Laplace equation with a right-hand side f are considered. We exhibit the largest rearrangement-invariant space to which f has to belong for every local weak solution to be continuous. Moreover, we find the optimal modulus of continuity of solutions when f ranges in classes of rearrangement-invariant spaces, including Lorentz, Lorentz-Zygmund and various standard Orlicz spaces.

Motivation Gene expression data from high-throughput assays, such as microarray, are often used to predict cancer survival. However, available datasets consist of a small number of samples (n patients) and a large number of gene expression data (p predictors). Therefore, the main challenge is to cope with the high-dimensionality, i.e. p>>n, and a novel appealing approach is to use screening procedures to reduce the size of the feature space to a moderate scale (Wu & Yin 2015, Song et al. 2014, He et al. 2013).

The accurate segmentation of the optic disc (OD) offers an important cue to extract other retinal features in an automated diagnostic system, which in turn will assist ophthalmologists to track many retinopathy conditions such as glaucoma. Research contributions regarding the OD segmentation is on the rise, since the design of a robust automated system would help prevent blindness, for instance, by diagnosing glaucoma at an early stage and a condition known as ocular hypertension.

The rheology and dynamics of suspensions of fluid vesicles is investigated by a combination of molecular dynamics and mesoscale hydrodynamics simulations in two dimensions. The vesicle suspension is confined between two no-slip shearing walls. The flow behavior is studied as a function of the shear rate, the volume fraction of vesicles, and the viscosity ratio between inside and outside fluids. Results are obtained for the interactions of two vesicles, the intrinsic viscosity of the suspension, and the cell-free layer near the walls.

Relative dispersion of tracers - i.e. very small, neutrally buoyant particles-, is particularly efficient in incompressible turbulent flows. Due to the non smooth behaviour of velocity differences in the inertial range, the separation distance between two trajectories, R(t)=X1(t)-X2(t) , grows as a power of time superdiffusively, R2(t)t3 , as first observed by L.F. Richardson [1]. This now well established result has no counterpart in the theory of heavy particle suspensions, namely finite-size particles with a mass density much larger that of the carrier fluid.