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Moyamoya disease (MMD) is a chronic and progressive cerebrovascular stenosis or occlusive disease that occurs near Willis blood vessels. The aim of this study was to investigate the mutation of DIAPH1 in Asian population, and to compare the angiographic features of MMD patients with and without the mutation of the DIAPH1 gene. Blood samples of 50 patients with MMD were collected, and DIAPH1 gene mutation was detected. The angiographic involvement of the posterior cerebral artery was compared between the mutant group and the non-mutant group. The independent risk factors of posterior cerebral artery involvement were determined by multivariate logistic regression analysis. DIAPH1 gene mutation was detected in 9 (18%) of 50 patients, including 7 synonymous mutations and 2 missense mutations. However, the incidence of posterior cerebral artery involvement in mutation positive group was very higher than that in mutation negative group (77.8% versus 12%; p = 0.001). There is an association between DIAPH1 mutation and PCA involvement (odds ratio 29.483, 95% confidence interval 3.920–221.736; p = 0.001). DIAPH1 gene mutation is not a major genetic risk gene for Asian patients with moyamoya disease but may play an important role in the involvement of posterior cerebral artery. [ABSTRACT FROM AUTHOR]

The inherent brittleness of silicon carbide (SiC) poses a significant challenge in concurrently enhancing its fracture toughness and hardness. While nanostructuring has effectively increased SiC hardness through the Hall−Petch effect, its impact on improving fracture toughness remains less explored. Consequently, there is an urgent need for strategies that can simultaneously enhance both hardness and fracture toughness. This study investigates the effects of microstructural modulation on nanocrystalline SiC bulks sintered under high pressure high temperature. By employing multidimensional modifications encompassing grain size, grain boundary, and lattice defect density, we successfully improved the mechanical properties of SiC ceramics. Notably, SiC bulks sintered at 25 GPa and 1500 °C, characterized by nanoscale grains, strong intergranular bonding, and abundant lattice defects within individual grains, exhibited an impressive combination of high hardness (32.2−33.3 GPa) and remarkable fracture toughness (4.8−4.9 MPa·m0.5). Detailed transmission electron microscopy analysis revealed multiple toughening mechanisms intimately linked to the microstructure. [ABSTRACT FROM AUTHOR]

This article discusses the findings of a study on moyamoya disease (MMD), a condition characterized by the occlusion of the intracranial internal carotid artery and the formation of collateral vessels. The study focuses on the differential protein metabolism among different subtypes of MMD and the role of WNT4 (wingless‐type MMTV integration site family member 4) in causing cellular impairments by reducing microtubule stability. The researchers used proteomic profiling and in vitro experiments to identify the differences in protein metabolism and explore the potential mechanisms of haemorrhagic MMD. The study suggests that overexpression of WNT4 may lead to decreased stability of cellular microtubules, which could contribute to the rupture and hemorrhage of moyamoya vessels. These findings provide new insights into the biomarkers and mechanisms of haemorrhagic MMD. [Extracted from the article]

This article discusses a study on moyamoya disease (MMD), a rare cerebrovascular condition characterized by narrowing of the intracranial internal carotid arteries. The study aims to identify specific metabolomic changes and biomarkers that can distinguish between different subtypes of MMD for clinical diagnosis. The researchers used metabolomics analysis to identify differential metabolite features in patients with MMD compared to healthy controls. They found that LPC 16:1-2, a type of lipid, was significantly lower in patients with ischaemic MMD and could potentially serve as a biomarker for this subtype. Additionally, the study explored the effects of LPC supplementation on cell viability and angiogenesis in MMD. The findings suggest that LPC supplementation may have therapeutic potential for managing MMD. [Extracted from the article]

The association of exosomal RNA profiling and pathogenesis of moyamoya disease (MMD) and intracranial Atherosclerotic disease (ICAD) is unknown. In this study, we investigated the RNA profiles of sEV (small extracellular vesicles)/exosomes in patients with MMD and ICAD. Whole blood samples were collected from 30 individuals, including 10 patients with MMD, 10 patients with ICAD, and 10 healthy individuals. Whole transcriptome analysis was performed using the GeneChip WT Pico Reagent kit. Transcriptional correlation was verified using quantitative reverse transcription-polymerase chain reaction (qRT-PCR). The association between functional dysregulation and candidate RNAs was studied in vitro. In total, 1,486 downregulated and 2,405 upregulated RNAs differed significantly between patients with MMD and healthy controls. Differential expression of six circRNAs was detected using qPCR. Among these significantly differentially expressed RNAs, IPO11 and PRMT1 circRNAs were upregulated, whereas CACNA1F circRNA was downregulated. This is the first study showing that the differential expression of exosomal RNAs associated with MMD pathogenesis, such as overexpression of IPO11 and PRMT1 circRNAs, may be related to angiogenesis in MMD. The downregulation of CACNA1F circRNA may be related to vascular occlusion. These results propose the utility of exosomal RNAs as biological markers in MMD. [ABSTRACT FROM AUTHOR]