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Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohort to identify common, rare and ultra-rare coding variants associated with EE/DEE.

Reactions of copper oxide cluster cations, CunOm+ (n = 3-7; m ≤ 5), with ammonia, NH3, are studied at near thermal energies using a guided ion beam tandem mass spectrometer. The single-collision reactions of specific clusters such as Cu4O2+, Cu5O3+, Cu6O3+, Cu7O3+, and Cu7O4+ give rise to the release of H2O after NH3 adsorption efficiently and result in the formation of CunOm-1NH+. These CunOm+ clusters commonly have Cu average oxidation numbers of 1.0-1.4. On the other hand, the formation of CunOm-1H2+, i.e., the release of HNO, is dominantly observed for Cu7O5+ with a higher Cu oxidation number. Density functional theory calculations are performed for the reaction Cu5O3+ + NH3 → Cu5O2NH+ + H2O as a typical example of H2O release. The calculations show that this reaction occurs almost thermoneutrally, consistent with the experimental observation. Further, our experimental studies indicate that the multiple-collision reactions of Cu5O3+ and Cu7O4+ with NH3 lead to the production of Cu5+ and Cu7O+, respectively. This suggests that the desirable NH3 oxidation to N2 and H2O proceeds on these clusters. [ABSTRACT FROM AUTHOR]

Case: We report the case of a 13-year-old boy with Duchenne muscular dystrophy (DMD) who sustained bilateral femoral neck fractures associated with glucocorticoid-induced osteoporosis. Denosumab therapy for 18 months markedly improved the lumbar bone mineral density and the bone turnover markers. No fractures or complications were recorded during the treatment period. Conclusion: To the best of our knowledge, this is the first description of denosumab treatment for glucocorticoid-induced osteoporosis in a patient with DMD. The drug merits additional testing as an effective therapy for osteoporosis in patients with DMD. [ABSTRACT FROM AUTHOR]

Reactions of pure and doped rhodium cluster cations, RhnX+ (n = 2-6; X = Al, V, Co, Rh), with NO molecules were investigated at near-thermal energy using a guided ion beam tandem mass spectrometer. We found that the doping with Al and V increases the total reaction cross section mostly. Under single-collision conditions, Rh2X+ reacts with NO to produce Rh2N+ with release of metal monoxide, XO, whereas RhnX+ (n = 3-6) adsorb NO. For the specific clusters RhnAl+ (n = 3 and 4) and RhnV+ (n = 4-6), the NO adsorption is often accompanied by the release of one Rh atom. In addition, we examined the reactions of Rh5X+ (X = Al, V, Co, Rh) with NO under multiple-collision conditions and observed the cluster dioxide formation and the N2 release, i.e., NO decomposition. Particularly, the V-doping is most effective for the NO decomposition. One possible explanation for the present results is that the formation of a stable dopant metal-oxygen bond directly leads to the increase of NO dissociative adsorption energy and the reduction of the energy barrier between the molecular and dissociative adsorption, thereby encouraging the NO decomposition on the small RhnX+ clusters studied. [ABSTRACT FROM AUTHOR]

Reactions of copper cluster cations doped with an early transition metal atom, CunTi+ (n = 4-15) and CunV+ (n = 5-14, 16), with NO and O2 were investigated at a near-thermal collision energy using a guided ion beam tandem mass spectrometer. Most of the clusters adsorb NO and O2 under single collision conditions, and this reaction is often followed by the release of Cu atoms. For both Ti- and V-doped Cu clusters, the total cross sections for the reaction with NO increase gradually with the cluster size up to n - 11 and then decrease rapidly, whereas those with O2 are almost constant in n = 12 and then decrease. The size dependence of the reactivity toward NO is found to correlate with that of the adsorption energy calculated by the density functional theory method; CunTi+ clusters exhibit the larger reaction cross sections when they have the larger adsorption energies. The calculations of CunTi+ also show that a structural transition from a Ti-exposed structure to Ti-encapsulated one occurs around n = 12. This indicates that a geometric property of the clusters, i.e., the position of the dopant atom, is a determining factor of reactivity. In addition, the Ti- and V-doping dramatically improves the reactivity of Cu cluster cations toward NO but it does not affect that toward O2 significantly. As a result, most of the Ti- and V-doped Cu clusters are more reactive toward NO than toward O2. We also studied the multiple-collision reaction of Cu7Ti+ with NO and obtained the cluster dioxide, Cu3TiO2+, as a product ion, which suggests that the dissociation of NO and the subsequent formation/release of N2 take place. [ABSTRACT FROM AUTHOR]

Structures of nickel cluster ions adsorbed with methanol, Ni3(CH3OH)m(m 1−3) and Ni4(CH3OH)m(m 1−4) were investigated by using infrared photodissociation (IR-PD) spectroscopy based on a tandem-type mass spectrometer, where they were produced by passing Ni3,4through methanol vapor under a multiple collision condition. The IR-PD spectra were measured in the wavenumber region between 3100 and 3900 cm-1. In each IR-PD spectrum, a single peak was observed at a wavenumber lower by ∼40 cm-1than that of the OH stretching vibration of a free methanol molecule and was assigned to the OH stretching vibrations of the methanol molecules in Ni3,4(CH3OH)m. The photodissociation was analyzed by assuming that Ni3,4(CH3OH)mdissociate unimolecularly after the photon energy absorbed by them is statistically distributed among the accessible modes of Ni3,4(CH3OH)m. In comparison with the calculations performed by the density functional theory, it is concluded that (1) the oxygen atom of each methanol molecule is bound to one of the nickel atoms in Ni3,4(defined as molecular chemisorption), (2) the methanol molecules in Ni3,4(CH3OH)mdo not form any hydrogen bonds, and (3) the cross section for demethanation CH4detachment from Nin(CH3OH) is related to the electron density distribution inside the methanol molecule. [ABSTRACT FROM AUTHOR]