Discussion The RAS/MAPK pathway plays an essential role in human development; hence, its dysregulation not surprisingly results in severe congenital anomalies, such as phenotypically overlapping syndromes termed RASopathies. To our best knowledge, we report here the first CNV causing haploinsufficiency of BRAF, resulting in dysregulation of the RAS/MAPK cascade, and consequently, in the phenotype observed in our patient. To conclude, with this report, we have pointed to the involvement of the RAS/MAPK signaling pathway in CS development. Moreover, we have shown that the molecular analysis based on both DNA and RNA profiling, undoubtedly constitutes a comprehensive diagnostic and research strategy for elucidating a cause of genetic diseases.Aims To describe turnover intention of emergency nurses and clarify the effects of organizational commitment, job satisfaction and workplace violence on turnover intention. Background Research has showed the predictors of turnover intention differed among nurses of different specialties. However, research on turnover intention has mostly focused on general nurses rather than emergency nurses. Design A descriptive, cross-sectional study was conducted. Methods A self-administered questionnaire was used to collect data from 415 emergency nurses in Beijing, China, using convenience sampling. Path analysis was used to test the relationships between organizational commitment, job satisfaction, workplace violence and turnover intention. Results Most emergency nurses (90.2%) had a high level or very high level of turnover intention. Contrary to previous studies, organizational commitment had a significant direct positive effect on workplace violence. It also had a direct positive effect on job satisfaction and a negative effect on turnover intention. Workplace violence had a negative effect on job satisfaction and a positive effect on turnover intention. Job satisfaction had a direct negative effect on turnover intention. Conclusion To reduce turnover intention in the emergency department, measures should be taken to reduce workplace violence and increase nurses' job satisfaction, especially those with high organizational commitment.Background and objective To take major advantage of erbium-doped yttrium aluminium garnet (ErYAG) lasers in osteotomy-like freedom of cutting geometries and high accuracy-the integration and miniaturization of the robot, laser, and navigation technology was tried and applied to minipigs. The investigators hypothesized laser osteotomy would render acceptable bone healing based on the intraoperative findings and postoperative cut surface analysis. Study design/materials and methods We designed and implemented a comparative bone-cutting surgery in the minipig mandible with a cold ablation robot-guided ErYAG laser osteotome (CARLO) and a piezoelectric (PZE) osteotome. The sample was composed of different patterns of defects in the mandibles of six grown-up female Goettingen minipigs. The predictor variable was ErYAG osteotomy and PZE osteotomy. The outcome variable was the cut surface characteristics and bone healing at 4 and 8 weeks postoperatively. Descriptive and qualitative comparison was executed. Results The sample was composed of four kinds of bone defects on both sides of the mandibles of six minipigs. We observed more bleeding during the operation, open-cut surfaces, and a faster healing pattern with the laser osteotomy. There was a possible association between the intraoperative findings, postoperative cut surface analysis, and the bone healing pattern. Conclusions The results of this study suggest that characteristic open-cut surfaces could explain favorable bone healing after laser osteotomy. Future studies will focus on the quantification of the early healing characteristics after laser osteotomy, its diverse application, and the safety feature. Lasers Surg. Med. © 2020 Wiley Periodicals LLC.Silicon anode with extremely high theoretical specific capacity (≈4200 mAh g-1 ), experiences huge volume changes during Li-ion insertion and extraction, causing mechanical fracture of Si particles and the growth of a solid-electrolyte interface (SEI), which results in a rapid capacity fading of Si electrodes. Herein, a mechanically reinforced localized structure is designed for carbon-coated Si nanoparticles (C@Si) via elongated TiO2 nanotubes networks toward stabilizing Si electrode via alleviating mechanical strain and stabilizing the SEI layer. Benefited from the rational localized structure design, the carbon-coated Si nanoparticles/TiO2 nanotubes composited electrode (C@Si/TiNT) exhibits an ideal electrode thickness swelling, which is lower than 1% after the first cycle and increases to about 6.6% even after 1600 cycles. While for traditional C@Si/carbon nanotube composited electrode, the initial swelling ratio is about 16.7% and reaches ≈190% after 1600 cycles. As a result, the C@Si/TiNT electrode exhibits an outstanding capacity of 1510 mAh g-1 at 0.1 A g-1 with high rate capability and long-time cycling performance with 95% capacity retention after 1600 cycles. The rational design on mechanically reinforced localized structure for silicon electrode will provide a versatile platform to solve the current bottlenecks for other alloyed-type electrode materials with large volume expansion toward practical applications.Westernized diets and lifestyle are linked to the development of metabolic syndrome, characterized by obesity, type 2 diabetes, and increased cardiovascular disease risk. Systemic low-grade inflammation is a common feature of chronic metabolic disorders and is believed to promote disease progression. Therefore, modulating inflammation is a commonly explored strategy to prevent obesity-associated co-morbidities. In this review, how current knowledge on the recently described concept of innate immune memory could underline metaflammation in the context of metabolic syndrome is explored. It is hoped that these insights provide a new perspective to address the question of innate immune activation during disease progression.Hookworm infection (Necator americanus and Ancylostoma spp) causes significant morbidity in resource-limited countries. Dog and pig ownership is associated with human infection, although the mechanism through which animals increase risk remains unknown. We first confirmed this association in Kintampo North, Ghana, using a retrospective analysis and serology, followed by a prospective molecular study of animal faeces. As a proxy of exposure to dog faeces, we analysed immunoreactivity of human serum to the zoonotic nematode Toxocara canis. Anti-Toxocara antibodies were present in 62% of samples (n = 89), and reactivity was associated with dog ownership. A subsequent prospective study revealed that 43% of dog and 56% of pig faecal samples contained hookworm eggs by microscopy. PCR analysis confirmed the presence of N. americanus DNA in 47% of samples from dogs and 56% pig samples.  https://www.selleckchem.com/mTOR.html  Nematode larvae were successfully cultured from samples collected from 36 dogs and seven pigs. These results demonstrate that dogs and pigs have a likely role in the transmission of N.