A Novel RNF139 Mutation in Hemangioblastomas: Case Report

Hemangioblastomas (HBs) are classified as grade I tumors with uncertain origin according to the World Health Organization's classification system. HBs are characterized by rich mesenchymal cells and abundant capillaries. It has been shown that tumorigenesis of HBs depends on mutational inactivation of Von Hippel-Lindau (VHL) tumor suppressor gene. Therefore, the majority of patients will undergo VHL single gene test, and sequencing scheme is rarely used in clinic. In this study, we described a girl and her father successively found to have HBs within half a year. The results of next-generation sequencing (NGS) and Sanger sequencing analysis showed that both of them carried heterozygous mutation of RNF139 p.Q650R. This mutation was interpreted as Pathogenic variation based on the American College of Medical Genetics and Genomics (ACMG) guideline. Sanger sequencing was performed with other family members. No mutation on rs118184842 locus of RNF139 gene was found in the samples from the girl's mother, uncle and aunt. This report supports that the novel mutation of RNF139 p.Q650R probably serve as a key role in HBs progression

Probability Characteristics, Area Reduction, and Wind Directionality Effects of Extreme Pressure Coefficients of High-Rise Buildings

Wind tunnel tests are carried out for the Commonwealth Advisory Aeronautical Research Council (CAARC) high-rise building with a scale of 1:400 in exposure categories D. The distribution law of extreme pressure coefficients under different conditions is studied. Probability distribution fitting is performed on the measured area-averaged extreme pressure coefficients. The general extreme value (GEV) distribution is preferred for probability distribution fitting of extreme pressure coefficients. From the comparison between the area-averaged coefficients and the value from GB50009-2012, it is indicated that the wind load coefficients from GB50009-2012 may be non-conservative for the CAARC building. The area reduction effect on the extreme wind pressure is smaller than that on the mean wind pressure from the code. The recommended formula of the area reduction factor for the extreme pressure coefficient is proposed in this study. It is found that the mean and the coefficient of variation (COV) for the directionality factors are 0.85 and 0.04, respectively, when the orientation of the building is given. If the uniform distribution is given for the building’s orientation, the mean value of the directionality factors is 0.88, which is close to the directionality factor of 0.90 given in the Chinese specifications

Understanding the Effect of the Third Component PC71BM on Nanoscale Morphology and Photovoltaic Properties of Ternary Organic Solar Cells

Herein, PC71BM is used as the third component (the second acceptor) to improve the photovoltaic performance of the organic solar cells (OSCs) based on a low-cost polymer donor PTQ10 and a nonfullerene small-molecule acceptor Y6. The ternary OSCs based on PTQ10:Y6:PC71BM reach a higher power conversion efficiency (PCE) of 16.07% with enhanced short-circuit current density and a better fill factor in comparison with the binary OSCs based on PTQ10:Y6, which is ascribed to the higher electron mobility, better charge extraction, and suppressed charge recombination of the ternary PSCs. The film morphology of the OSCs is studied by grazing-incidence wide-angle X-ray scattering, photo-induced force microscopy, and transmission electron microscopy, which reveals that with the treatment of additive (0.5% CN) and thermal annealing, the phase separation of Y6 is obviously enhanced, whereas no significant changes occur for that of PTQ10 component. Besides, the addition of PC71BM slightly lowers the ratio of the face-on orientation in the blend film and attenuate the aggregation of acceptor Y6. In addition, compared with the binary PTQ10:Y6 OSC, the ternary device based on PTQ10:Y6:PC71BM shows better device stability, demonstrating a great potential for the practical application of ternary OSCs