Search

See Hansen and Møller (doi:10.1093/brain/awz318) for a scientific commentary on this article. Using polygenic risk scores from a genome-wide association study in generalized and focal epilepsy, Leu et al. reveal a significantly higher genetic burden for epilepsy in multiple cohorts of people with epilepsy compared to population controls. Quantification of common variant burden may be valuable for epilepsy prognosis and treatment., Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The phenotypic consequences of common genetic risk burden for epilepsies and their potential future clinical applications have not yet been determined. Using polygenic risk scores (PRS) from a European-ancestry genome-wide association study in generalized and focal epilepsy, we quantified common genetic burden in patients with generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) from two independent non-Finnish European cohorts (Epi25 Consortium, n = 5705; Cleveland Clinic Epilepsy Center, n = 620; both compared to 20 435 controls). One Finnish-ancestry population isolate (Finnish-ancestry Epi25, n = 449; compared to 1559 controls), two European-ancestry biobanks (UK Biobank, n = 383 656; Vanderbilt biorepository, n = 49 494), and one Japanese-ancestry biobank (BioBank Japan, n = 168 680) were used for additional replications. Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with generalized epilepsy of European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.64×10−15; Cleveland: P = 2.85×10−4; Finnish-ancestry Epi25: P = 1.80×10−4) or population controls (Epi25: P = 2.35×10−70; Cleveland: P = 1.43×10−7; Finnish-ancestry Epi25: P = 3.11×10−4; UK Biobank and Vanderbilt biorepository meta-analysis: P = 7.99×10−4). FE-PRS were significantly higher in patients with focal epilepsy compared to controls in the non-Finnish, non-biobank cohorts (Epi25: P = 5.74×10−19; Cleveland: P = 1.69×10−6). European ancestry-derived PRS did not predict generalized epilepsy or focal epilepsy in Japanese-ancestry individuals. Finally, we observed a significant 4.6-fold and a 4.5-fold enrichment of patients with generalized epilepsy compared to controls in the top 0.5% highest GE-PRS of the two non-Finnish European cohorts (Epi25: P = 2.60×10−15; Cleveland: P = 1.39×10−2). We conclude that common variant risk associated with epilepsy is significantly enriched in multiple cohorts of patients with epilepsy compared to controls—in particular for generalized epilepsy. As sample sizes and PRS accuracy continue to increase with further common variant discovery, PRS could complement established clinical biomarkers and augment genetic testing for patient classification, comorbidity research, and potentially targeted treatment.

Water electrolysis is one of the most promising methods to produce H2 and O2 as high potential fuels. Comparing the two half-reactions, the oxygen evolution reaction (OER) is the more difficult to be optimized and still relies on expensive noble metal-based catalysts such as Ru or Ir. In this paper, we prepared nanoparticles of HfN and Hf2ON2 and tested them for the OER for the first time. The HfN sample, in particular, showed the highest activity, requiring an overpotential of only 358 mV at 10 mA cm−2 in Fe-free electrolyte and, above all, exhibiting long-term stability. This result places this system amongst one of the most promising catalysts for OER tested to date, in terms of sustainability, activity and stability. The prepared nanoparticles are small (less than 15 nm in diameter), well-defined in shape and crystalline, and were characterised before and after electrochemical testing also via electron microscopy (EM), powder X-ray diffraction (PXRD) and X-ray photoelectron spectroscopy (XPS).

Inorganic lead halide perovskites are promising candidates for optoelectronic applications, due to their high photoluminescence quantum yield and narrow emission line widths. Particularly attractive is the possibility to vary the bandgap as a function of the halide composition and the size or shape of the crystals at the nanoscale. Here we present an aberration-corrected scanning transmission electron microscopy (STEM) and monochromated electron energy-loss spectroscopy (EELS) study of extended nanosheets of CsPbBr3. We demonstrate their orthorhombic crystal structure and their lateral termination with Cs–Br planes. The bandgaps are measured from individual nanosheets, avoiding the effect of the size distribution which is present in standard optical spectroscopy techniques. We find an increase of the bandgap starting at thicknesses below 10 nm, confirming the less marked effect of 1D confinement in nanosheets compared to the 3D confinement observed in quantum dots, as predicted by density functional theory calculations and optical spectroscopy data from ensemble measurements.

We report an amine-free synthesis of lead halide perovskite (LHP) nanocrystals, using trioctylphosphine oxide (TOPO) instead of aliphatic amines, in combination with a protic acid (e.g., oleic acid). The overall synthesis scheme bears many similarities to the chemistry behind the preparation of LHP thin films and single crystals, in terms of ligand coordination to the chemical precursors. The acidity of the environment and hence the extent of protonation of the TOPO molecules tune the reactivity of the PbX2 precursor, regulating the size of the nanocrystals. On the other hand, TOPO molecules are virtually absent from the surface of our nanocrystals, which are simply passivated by one type of ligand (e.g., Cs-oleate). Furthermore, our studies reveal that Cs-oleate is dynamically bound to the surface of the nanocrystals and that an optimal surface coverage is critical for achieving high photoluminescence quantum yield. Our scheme delivers NCs with a controlled size and shape: only cubes are formed, with no contamination with platelets, regardless of the reaction conditions that were tested. We attribute such a shape homogeneity to the absence of primary aliphatic amines in our reaction environment, since these are known to promote the formation of nanocrystals with sheet/platelet morphologies or layered phases under certain reaction conditions. The TOPO route is particularly appealing with regard to synthesizing LHP nanocrystals for large-scale manufacturing, as the yield in terms of material produced is close to the theoretical limit: i.e., almost all precursors employed in the synthesis are converted into nanocrystals.

This paper explores the effects of electrification of water sprays on the absorption of sulphur dioxide from exhaust gases. Electrification is associated with an appreciable improvement of sulphur dioxide absorption rate with low supplementary costs and candidates to be a valuable innovation for spray tower absorbers. Similar phenomena occur during thunderstorms, when scavenging of gases and aerosol are enhanced by the electric charge of raindrops. This paper aims to describe the effects of electrification on SO2 absorption on the bases of experimental and theoretical analyses. The experiments involve absorption tests in lab-and pilot scale facilities, while theoretical modelling to assess the chemical and physical properties of charged droplets, their hydrodynamics and their mass transfer rates are presented. Water electrification is accompanied by a number of chemical-physics and morphological modifications of the sprayed droplets that modify the conventional absorption rate of soluble gases. The experimental and theoretical evidences indicate the need to analyse the electrified absorption within a new and integrated theoretical framework that we define chemi-electro-hydrodynamics (CEHD).

To produce Au–FexOy dimers with outstanding heating performances under clinical magnetic hyperthermia conditions, here we report two synthesis routes, a two-pot and a one-pot method., With the aim of producing Au–FexOy dimers with outstanding heating performances under magnetic hyperthermia conditions applicable to human patients, here we report two synthesis routes, a two-pot and a one-pot method. The addition of chloride ions and the absence of 1,2-hexadecanediol (HDDOL), a commonly used chemical in this synthesis, are the key factors that enable us to produce dimers at low temperature with crystalline iron oxide domains in the size range between 18–39 nm that is ideal for magnetic hyperthermia. In the case of two-pot synthesis, in which no chloride ions are initially present in the reaction pot, dimers are obtained only at 300 °C. In order to lower the reaction temperature to 200 °C and to tune the size of the iron oxide domain, the addition of chloride ions becomes the crucial parameter. In the one-pot method, the presence of chloride ions from the start of the synthesis (as counter ions of the gold salt precursor) enables a prompt formation of dimers directly at 200 °C. In this case, the reaction time is the main parameter used to tune the iron oxide size. A record value of specific absorption rates (SARs) up to 1300 W gFe–1 at 330 kHz and 24 kA m–1 was measured for dimers with an iron oxide domain of 24 nm in size.

In this study, we investigated the induction charging of water sprays and the effect of electric field on the breakup mechanism of liquid sprays. Two different kind of hollow cone hydraulic spray nozzles were used. Our investigation aimed to estimate the Droplet Charge to Mass Ratio (D-CMR) and the dependence of breakup length on electric potential. The experiments revealed that the D-CMR increased with the potential until to a maximum, then started to decrease. At the same time, the breakup length decreased more than 0.5 cm compared to the uncharged value, suggesting that the electric field actually influenced the jet break-up dynamics. For V