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Our findings extend the genotypic spectrum of paroxysmal kinesigenic dyskinesia and establish the associations between paroxysmal kinesigenic dyskinesia and genes classically related to other paroxysmal movement disorders. De novo variants might be a cause of sporadic paroxysmal kinesigenic dyskinesia. © 2018 International Parkinson and Movement Disorder Society.

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Novel composite photocatalysts consisting of CdS and graphitic carbon nitride (CdS/g‐C3N4) with different ratios of CdS were prepared. The CdS/g‐C3N4 composite photocatalysts were characterized in detail and their photocatalytic activity was evaluated by using rhodamine B and colorless metronidazole as probes. Compared with pure g‐C3N4, the CdS/g‐C3N4 composite exhibits significantly enhanced photocatalytic activity under visible‐light irradiation. More importantly, g‐C3N4 substantially reinforces the photostability of CdS nanowires even in a nonsacrificial system. The synergistic effect between CdS and g‐C3N4 is found to be primarily responsible for enhancement of the separation of photogenerated electrons and holes, which helps improve the photocatalytic performance. A probable photodegradation process of metronidazole was proposed based on an analysis of the degradation products. This study provides new insight into the preparation of highly efficient and stable sulfide‐based composite photocatalysts and facilitates their application in a number of environmentally sensitive areas.

The solid solution of GaN and ZnO (GaN:ZnO) is a promising photocatalyst applicable to visible-light-driven overall water splitting. However, the band gap of active GaN:ZnO remains as large as ca. 2.7 eV because of the loss of ZnO during the widely applied NH 3 nitridation process. Herein, particulate GaN:ZnO exhibiting a band gap of 2.3 eV was synthesized via calcination of a mixture of Ga 2 O 3 , Zn, and NH 4 Cl in a sealed evacuated tube. The synthesis method was also featured with a high nitrogen utilization rate of 87%. The prepared narrow-band-gap GaN:ZnO was active in the overall water-splitting reaction. In the presence of sacrificial reagents, the apparent quantum yields of GaN:ZnO at 420 nm for H 2 and O 2 generation were 5.1 and 14.3%, respectively. GaN:ZnO was applied as an oxygen evolution photocatalyst to construct a Z-scheme overall water-splitting system with SrTiO 3 :Rh as a hydrogen evolution photocatalyst, which achieved a solar-to-hydrogen energy conversion efficiency of 3.7 × 10 −2 % and a remarkable photochemical stability up to 100 h. This work provides an approach to the synthesis of narrow-band-gap GaN:ZnO solid solution and shows the potential of this material in H 2 production from water under long-wavelength visible light.

Our study aimed to identify the underlying causes in patients with early onset dementia by clinical and genetic exploration. We recruited a group of 38 patients with early-onset dementia. Firstly, hexanucleotide repeat expansions in C9ORF72 gene were screened in all subjects to exclude the possibility of copy number variation. Then, the whole exome sequencing (WES) was conducted, and the data were analyzed focusing on 89 dementia-related causing and susceptible genes. The effects of identified variants were classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. There were no pathogenic expansions in C9ORF72 detected. According to the ACMG standards and guidelines, we identified five known pathogenic mutations, PSEN1 P284L, PSEN1c.857-1G>A, PSEN1 I143T, PSEN1 G209E and MAPT G389R, and one novel pathogenic mutation APP K687N. All these mutations caused dementia with the mean onset age of 38.3 (range from 27 to 51) and rapid progression. Eleven variants with uncertain significance were also detected and needed further verification. The clinical phenotypes of dementia are heterogeneous, with both onset ages and clinical features being influenced by mutation position as well as the causative gene. WES can serve as efficient diagnostic tools for different heterogeneous dementia.