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• This study reports that NEXMIF variants are potentially associated with focal epilepsy without intellectual disability. • The epileptic phenotypes of NEXMIF variants ranged from the mild epilepsy to severe developmental epileptic encephalopathy, where the epileptic phenotypes variability are potentially associated with patients' gender and variant type. Variants in NEXMIF had been reported associated with intellectual disability (ID) without epilepsy or developmental epileptic encephalopathy (DEE). It is unkown whether NEXMIF variants are associated with epilepsy without ID. This study aims to explore the phenotypic spectrum of NEXMIF and the genotype-phenotype correlations. Trio-based whole-exome sequencing was performed in patients with epilepsy. Previously reported NEXMIF variants were systematically reviewed to analyze the genotype-phenotype correlations. Six variants were identified in seven unrelated cases with epilepsy, including two de novo null variants and four hemizygous missense variants. The two de novo variants were absent in all populations of gnomAD and four hemizygous missense variants were absent in male controls of gnomAD. The two patients with de novo null variants exhibited severe developmental epileptic encephalopathy. While, the patients with hemizygous missense variants had mild focal epilepsy with favorable outcome. Analysis of previously reported cases revealed that males with missense variants presented significantly higher percentage of normal intellectual development and later onset age of seizure than those with null variants, indicating a genotype-phenotype correlation. This study suggested that NEXMIF variants were potentially associated with pure epilepsy with or without intellectual disability. The spectrum of epileptic phenotypes ranged from the mild epilepsy to severe developmental epileptic encephalopathy, where the epileptic phenotypes variability are potentially associated with patients' gender and variant type. [ABSTRACT FROM AUTHOR]

Angiogenesis helps to improve neurological recovery by repairing damaged brain tissue and restoring cerebral blood flow (CBF). The role of the Elabela (ELA)-Apelin receptor (APJ) system in angiogenesis has gained much attention. We aimed to investigate the function of endothelial ELA on post-ischemic cerebral angiogenesis. Here, we demonstrated that the endothelial ELA expression was upregulated in the ischemic brain and treatment with ELA-32 mitigated brain injury and enhanced the restoration of CBF and newly formed functional vessels following cerebral ischemia/reperfusion (I/R) injury. Furthermore, ELA-32 incubation potentiated proliferation, migration, and tube formation abilities of the mouse brain endothelial cells (bEnd.3 cells) under oxygen-glucose deprivation/reoxygenation (OGD/R) condition. RNA sequencing analysis indicated that ELA-32 incubation had a role in the Hippo signaling pathway, and improved angiogenesis-related gene expression in OGD/R-exposed bEnd.3 cells. Mechanistically, we depicted that ELA could bind to APJ and subsequently activate YAP/TAZ signaling pathway. Silence of APJ or pharmacological blockade of YAP abolished the pro-angiogenesis effects of ELA-32. Together, these findings highlight the ELA-APJ axis as a potential therapeutic strategy for ischemic stroke by showing how activation of this pathway promotes post-stroke angiogenesis. [ABSTRACT FROM AUTHOR]

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene, often leading to intractable and life-threatening diarrhea. Fecal microbiota transplantation (FMT), has been regarded in recent years as an available approach to reconstruct disrupted gut microbiome and successfully used to attenuates diarrhea induced by different underlying diseases. Therefore, FMT may have curative potential on the symptoms of enteropathy in patients with IPEX syndrome. Physical and laboratory examinations were performed, and clinical data were collected. FMT was administered via frozen fecal microbial solution, and the fecal microbiota composition was analyzed using 16S rDNA sequencing before and after FMT. The patient was diagnosed with IPEX syndrome with a mutation detected in the FOXP3 gene, which was identified as c.767T > C (p.M256T). He presented with recurrent watery diarrhea and respiratory infections after birth and developed a significant failure to thrive. Disturbances in the gut microbiota composition and marked decreased bacterial diversity were observed to be involved in the persistent and refractory diarrhea. After receiving FMT treatment, the patient responded with remission of the diarrhea without apparent side effects. His stool output significantly decreased, corresponding to increased microbial diversity and modification of his microbiota composition. The patient finally achieved full recovery after hematopoietic stem cell transplantation (HSCT). Our data suggest an association between the gut microbiota and clinical symptoms of patient with IPEX syndrome and demonstrate FMT as an alternative therapy for severe diarrhea unresponsive to routine therapy in these patients. [ABSTRACT FROM AUTHOR]

The photodegradation of 2-chlorobenzoic acid (2-CBA) in suspensions of TiO 2 was examined under different operational parameters. The optimal condition could be obtained through the experiment, i.e. that the concentration of 2-CBA was 30 mg/L and the dosing quantity of TiO 2 was 0.01 g under UV light in the case of pH 3.5. Above reaction process was in accordance with first order kinetics model. The influence on photocatalytic degradation caused by typical anions in eutrophicated water body such as NO 3 − and H 2 PO 4 − was explored in this work, which revealed that both two anions had inhibitory effect on the degradation process. In addition, alcohol was introduced into the process to identify the degradation mechanism of 2-CBA with TiO 2 , and the reaction route of 2-CBA could be predicted through the analysis on the intermediate. [ABSTRACT FROM AUTHOR]

X-ray detection has been extensively applied in various fields including medical imaging, security detection, and industrial non-destructive testing. Recently, organic-metal halide perovskites (OMHP) are being under the spotlight of the academia in X-ray detection and imaging, owing to their outstanding photoelectric properties such as high photoluminescence quantum yield, large X-ray attenuation coefficient, high carrier mobility-lifetime (μτ) product and high defect-tolerant nature as well as low-cost raw materials and facile preparation technology. The reported perovskite X-ray detectors have displayed superb sensitivity and high-spatial-resolution X-ray imaging, promisingly challenging the traditional commercial X-ray detectors based on Si, α -Se or CsI:TI. Inspired by these exciting results, we summarize the recent progress of OMHP X-ray detectors. At first, we briefly introduce the working mechanism of indirect/direct X-ray detectors and the corresponding device structure, followed by a detailed discussion of the performance parameters of X-ray detectors. Then, we further demonstrate the achievements of OMHP in X-ray detection and imaging in terms of device type, perovskite composition, film species, fabrication technique, and optimized strategies, where the interplay between perovskite constituent/type, preparation technology and device performance are strongly emphasized. Finally, the challenges and prospects of OMHP-based X-ray detectors for the future development toward the commercialized application are proposed. [Display omitted] • The working mechanism of indirect/direct X-ray detectors and the corresponding device performance parameters are discussed. • The achievements of perovskite in X-ray detection and imaging are demonstrated. • The challenges and prospects of perovskite-based X-ray detectors for the future development are proposed. [ABSTRACT FROM AUTHOR]

Terrestrial laser scanning (TLS) has gained prominence as a deformation monitoring technology in various fields such as bridges and tunnels. This paper offers a comprehensive overview of TLS-based deformation monitoring, covering measurement principles, stochastic models, registration, change detection, and practical applications. We systematically classify, detail, and compare methods for change detection, registration, and georeferencing, shedding light on their strengths, weaknesses, and applicability. The paper also provides an extensive comparison of deformation detection techniques for structures like bridges and tunnels, as well as ground deformation in landslides and unstable rock masses. Challenges related to achieving high-precision, reliable, and efficient deformation monitoring are discussed, and avenues for future research are outlined. Emphasis is placed on the importance of measurement planning to ensure data accuracy and support informed decision-making, particularly for large or spatially constrained structures. Future research should explore leveraging geometric constraints for more accurate change detection and enhancing deformation analysis reliability. • TLS-based deformation monitoring shows commonalities and specific characteristics across scenarios. • Multi-epoch point cloud comparison is essential for all types of deformation monitoring applications. • Measurement planning is crucial for accurate and reliable monitoring in complex structures. • Future research should leverage geometric constraints for precise analysis of deformation. • Research is needed to accurately quantify deformations in monitoring irregular ground surfaces. [ABSTRACT FROM AUTHOR]

Some of the metabolic effects of bariatric surgery may be mediated by the gut microbiome. To study the effect of bariatric surgery on changes to gut microbiota composition and bacterial pathways, and their relation to metabolic parameters after bariatric surgery. University hospitals in the United States and Spain. Microbial diversity and composition by 16 S rRNA sequencing, putative bacterial pathways, and targeted circulating metabolites were studied in 26 individuals with severe obesity, with and without type 2 diabetes, before and at 3, 6, and 12 months after either gastric bypass or sleeve gastrectomy. Bariatric surgery tended to increase alpha diversity, and significantly altered beta diversity, microbiota composition, and function up to 6 months after surgery, but these changes tend to regress to presurgery levels by 12 months. Twelve of 15 bacterial pathways enriched after surgery also regressed to presurgery levels at 12 months. Network analysis identified groups of bacteria significantly correlated with levels of circulating metabolites over time. There were no differences between study sites, surgery type, or diabetes status in terms of microbial diversity and composition at baseline and after surgery. The association among changes in microbiome with decreased circulating biomarkers of inflammation, increased bile acids, and products of choline metabolism and other bacterial pathways suggest that the microbiome partially mediates improvement of metabolism during the first year after bariatric surgery. • Surgical weight loss results in increased diversity and change in pathways of the microbiome. • Most changes tend to revert to pre-surgery levels at 12 months after surgery. • There is a temporal variability of bacterial clusters association with cardiovascular biomarkers. • The clinical relevance of microbial changes after bariatric surgery is unknown. [ABSTRACT FROM AUTHOR]

Graphical abstract Highlights • Impact of novel oligosaccharides on gut microbiota and its metabolites were studied. • Significant stimulation of specific bacteria in response to particular oligosaccharides. • Polydextrose and polygalactose exhibit prebiotic potential activities. • Polygalactose produced the largest amount of SCFAs than polydextrose and polymannose. Abstract Three microwave-synthesized non-digestible oligosaccharides (polydextrose, polygalactose and polymannose) were fermented using an in vitro pH-controlled batch incubation inoculated with human fecal slurries, simulating the events in the distal colon. Microbial changes and short-chain fatty acids (SCFAs) were analyzed using 16S rRNA gene sequencing and gas chromatography, respectively. Polydextrose and polygalactose significantly (P < 0.05) stimulated the growth of Bifidobacterium suggesting prebiotic potential activities. Besides, polygalactose increased the abundance of the Lactobacillus, while polymannose remarkably (P < 0.05) stimulated the growth of Erysipelotrichaceae. Our results also revealed that the fermentation of polygalactose by gut microbiota produced the largest amount of SCFAs which was dominated by the acetate and propionate as compared to polydextrose and polymannose. In addition, more butyrate was produced from polydextrose. These results suggest that microwave-synthesized polydextrose, polygalactose, and polymannose are potential promising non-digestible oligosaccharides in modulating human gut microbiota. [ABSTRACT FROM AUTHOR]

Graphical abstract Highlights • Aquatic clonal plants may invade terrestrial habitats in littoral zones. • Clonal integration may increase growth and invasiveness of Eichhornia crassipes. • Clonal integration improved ramet traits under environment stress. • Eichhornia crassipes can invade and spread by clonal integration in littoral zones. Abstract Clonal integration can improve the spread and growth of invasive plants in response to various disturbances. However, little is known about its role in floating aquatic clonal plants that expand from aquatic into terrestrial habitats in littoral zones. Thus, in this study, we simulated the expansion of the invasive clonal aquatic plant Eichhornia crassipes from aquatic to terrestrial habitats through two modes of clonal integration. We subjected E. crassipes parent plants and offspring ramets to three levels of natural light in terrestrial habitats: 100%, 60%, and 10%. The stolon connections were either severed or kept intact. Our findings showed that clonal integration had positive effects on plants exposed to shade in the terrestrial habitats and produced negative effects on plants in the aquatic habitats. Overall, clonal integration significantly increased whole-plant growth performance. Parent plants and offspring ramets in the terrestrial environments can enhance their adaptability to shade by increasing the maximum quantum yield of photosystem II and chlorophyll content. Clonal integration can support the expansion of E. crassipes from aquatic into terrestrial habitats with limited light conditions through significantly elevated growth traits. Thus, E. crassipes has a high ability for clonal integration and may be a potential threat to littoral zone ecosystems. [ABSTRACT FROM AUTHOR]

Abstract The etiology of adolescent idiopathic scoliosis (AIS), the most common rotational deformity of the spine, is still unclear. Emerging evidence suggests that gut microbiota dysbiosis influences musculoskeletal diseases such as arthritis and osteoporosis. However, the alterations of the fecal microbiome in AIS remain unknown. Thus, the current study was conducted to explore the gut microbiota compositions of Chinese AIS patients. Microbiota communities in the feces of 51 AIS patients and 34 age- and sex-matched healthy individuals were investigated using 16S rRNA sequencing. Meanwhile, the changes in the plasma proteome were detected using tandem mass tag (TMT) labeling coupled with liquid chromatography-mass spectrometry (LC-MS). The relationship between gut microbiota and AIS clinical characteristics as well as the correlation between gut microbiota and the changes in plasma proteins were analyzed. The structure of the gut microbiota differed between the AIS and healthy groups, however, the richness was similar. The genera Prevotella , Gelria , and Desulfovibrio were enriched in the feces of AIS patients. In contrast, the abundance of Parasutterella , Tyzzerella , and Phascolarctobacterium was decreased in the AIS group. More remarkably, a positive correlation between the abundance of the fecal genera Prevotella and the Cobb angles of the AIS patients was observed. Moreover, the major differential plasma proteins related to AIS were Fibronectin 1 (FN1), voltage-dependent anion channel 1 (VDAC1), Ras homolog family member A (RHOA), and AHNAK nucleoprotein (AHNAK). Additionally, the positive correlations between fecal Prevotella and the expression of host plasma FN1 as well as the negative relationships between fecal Prevotella and the expression of host VDAC1 and AHNAK were confirmed. Elucidating these differences in the gut microbiota will provide a foundation to improve our understanding of the pathogenesis of AIS and to support potential therapeutic options based on modifying the gut microbiota. Highlights • The structure of the gut microbiota was changed in AIS patients. • The abundance of fecal genera Prevotella was positively correlated to Cobb angles in AIS patients. • The gut microbiota may participate in the process of AIS through modulation of several plasma proteins. [ABSTRACT FROM AUTHOR]