Cornelia de Lange Spectrum.

Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postnatal growth retardation, extremity reduction defects, hirsutism and intellectual disability can be distinguished from the nonclassic phenotype, which is generally milder and more difficult to diagnose. In addition, the clinical features overlap with those of other neurodevelopmental disorders, so the use of consensus clinical criteria and artificial intelligence tools may be helpful in confirming the diagnosis. Pathogenic variants in NIPBL, which encodes a protein related to the cohesin complex, have been identified in more than 60% of patients, and pathogenic variants in other genes related to this complex in another 15%: SMC1A, SMC3, RAD21, and HDAC8. Technical advances in large-scale sequencing have allowed the description of additional genes (BRD4, ANKRD11, MAU2), but the lack of molecular diagnosis in 15% of individuals and the substantial clinical heterogeneity of the syndrome suggest that other genes and mechanisms may be involved. Although there is no curative treatment, there are symptomatic/palliative treatments that paediatricians should be aware of. The main medical complication in classic SCdL is gastro-esophageal reflux (GER), which should be treated early.

Nanoporous Carbon Electrodes Derived from Coffee Side Streams for Supercapacitors in Aqueous Electrolytes.

Coffee, as one of the most traded resources, generates a vast amount of biogenic by-products. Coffee silver skins (CSS), a side stream from the roasting process, account for about 4 wt.%. Despite the abundancy of CSS, possible routes to generate added value for broad applications are limited. Herein, we present an approach to use CSS as a precursor material for supercapacitor electrodes. KOH activated carbon (AC) was produced from CSS. The resulting AC-CSS was characterized by X-ray diffraction, gas sorption analysis, scanning electron microscopy, and Raman spectroscopy. The highly porous AC-CSS exposes a specific surface area of more than 2500 m2 g-1. Electrodes formed with AC-CSS were electrochemically characterized by performing cyclic voltammetry and galvanostatic cycling. The electrodes were further assembled into a supercapacitor device and operated using 1 M sulfuric acid as electrolyte. In addition, various quinones were added to the electrolyte and their impact on the capacitance of AC-CSS electrodes was analyzed. In this work, we were able to show that CSS are a valuable source for supercapacitor applications and that coffee-waste-derived quinones can act as capacitance enhancers. Thus, the findings of this research show a valuable path towards sustainable and green energy storage solutions.

Dataset on the learning performance of ECDL digital skills of undergraduate students for comparing educational gaming, gamification and social networking.

This paper reports data about the learning performance of students using four different motivational tools: an educational game, a gamified plugin, a social networking website and a gamified social networking website. It also reports a control group. The data pertain to 379 students of an undergraduate course that covers basic Information and Communication Technology (ICT) skills in Spain. Data corresponds to different learning modules of the European Computer Driving License (ECDL) initiative. The data include variables of four pre-test scores, four post-test scores and a final examination. It was gathered using a quasi-experimental research design during 2014. Data reported here refers to the research paper in (de-Marcos et al., 2016) [1].