Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available informatio...

Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...

Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-func...

We study the role of electronic structure (band gaps) and long-range van der Waals (vdW) interactions on the stability and mobility of point defects in silicon and heavier semiconductors. Density functional theory calculations with hybrid functionals that contain part of the Hartree-Fock exchange energy are essential to achieve a reasonable description of defect electronic levels, leading to ac...

We empirically analyze the welfare effects of cross-firm bundling in the pharmaceutical industry. Physicians often treat patients with "cocktail" regimens that combine two or more drugs. Firms cannot price discriminate because each drug is produced by a different firm and a physician creates the bundle in her office from the component drugs. We show that a less competitive equilibrium arises wi...

The Bonhöffer-van der Pol (BvdP) equation is considered as an important model for studying dynamics in a single neuron. In this paper, we investigate bifurcations of periodic solutions in model equations of four and five BvdP neurons coupled through the characteristics of synaptic transmissions with a time delay. The model can be considered as a dynamical system whose solution includes jumps de...