Genome-Wide Detection of Copy Number Variations Associated with Miniature Features in Horses.

Copy number variations (CNVs) are crucial structural genomic variants affecting complex traits in humans and livestock animals. The current study was designed to conduct a comprehensive comparative copy number variation analysis among three breeds, Debao (DB), Baise (BS), and Warmblood (WB), with a specific focus on identifying genomic regions associated with miniature features in horses. Using whole-genome next-generation resequencing data, we identified 18,974 CNVs across 31 autosomes. Among the breeds, we found 4279 breed-specific CNV regions (CNVRs). Baise, Debao, and Warmblood displayed 2978, 986, and 895 distinct CNVRs, respectively, with 202 CNVRs shared across all three breeds. After removing duplicates, we obtained 1545 CNVRs from 26 horse genomes. Functional annotation reveals enrichment in biological functions, including antigen processing, cell metabolism, olfactory conduction, and nervous system development. Debao horses have 970 genes overlapping with CNVRs, possibly causing their small size and mountainous adaptations. We also found that the genes GHR, SOX9, and SOX11 may be responsible for the miniature features of the Debao horse by analyzing their overlapping CNVRs. Overall, this study offers valuable insights into the widespread presence of CNVs in the horse genome. The findings contribute to mapping horse CNVs and advance research on unique miniature traits observed in the Debao horse.

[Application of modified facelift incision in parotid gland surgery].

Objective:To explore the safety and aesthetic effect of modified facelift incision in parotidectomy for benign parotid tumors. Methods:By prospective study, 63 patients with benign parotid tumor were randomly divided into experimental group and control group. The experimental group underwent modified facelift incision（MFI）, while the control group underwent Blair incision（BI）. The operation time, bleeding volume, total postoperative drainage, length of postoperative hospital stay, postoperative complications and aesthetic satisfaction of the two groups were counted and evaluated. Results:There were no statistically significant differences in the operative time, bleeding volume, total postoperative drainage, length of postoperative hospital stay, postoperative complications between the two group（P>0.05）. In terms of aesthetic satisfaction, the experimental group was significantly better than the control group, and the difference between the two groups was statistically significant（P<0.05）. Conclusion:Compared with the BI, the MFI has the same safety and higher aesthetic satisfaction, which has positive significance in cosmetology.

IFI16 contributes to the pathogenesis of abdominal aortic aneurysm by regulating the caspase-1/IL-1ß/MCPIP1 pathway.

AIMS: Abdominal aortic aneurysm (AAA) is a multi-factorial progressive vascular disease characterized by chronic inflammatory cell infiltration. We investigated the roles played by IFI16 and ASC inflammasomes in AAA development and progression. MATERIALS AND METHODS: Western blot and qRT-PCR studies were performed to analyze the expression of relative genes in AAA specimens and mouse vascular smooth muscle cells (VSMCs). The apoptosis rates and ROS levels of VSMCs were assessed by flow cytometry. Transwell assays were performed to analyze the migration ability of VSMCs. The levels of MCP-1, IL-1ß, and IL-6 in the supernatants of cultured VSMCs were analyzed by ELISA. KEY FINDINGS: Increased levels of IFI16 expression were found in AAA specimens and Ang-II-treated VSMCs. IFI16 and ASC silencing suppressed the apoptosis and migration ability of VSMCs undergoing Ang-II treatment, reduced elasticity damage to the aortic wall, and decreased the levels of MMP expression. The effect of IFI16 knockdown in Ang-II-induced VSMCs was reversed by MCPIP1 overexpression. SIGNIFICANCE: Our data suggest that an up-regulation of IFI16 and ASC expression might promote the apoptosis of VSMCs, enhance the inflammatory response, and impairs vascular wall elasticity via a MCPIP1-related mechanism. The inflammasome components IFI16 and ASC might be involved in AAA progression and serve as target molecules for diagnosing and treating AAA.

Protocol for a prospective multicenter cross-sectional observational study to investigate the role of air pollution on allergic rhinitis prevalence.

INTRODUCTION: Allergic rhinitis (AR) is a major chronic inflammatory disease of the respiratory tract. A large number of epidemiological investigations have shown that the prevalence of AR is increasing, resulting in a large social burden. Importantly, the impact of air pollution on health is a widespread concern. We aim to evaluate association of air pollution and AR risk. METHODS AND ANALYSIS: This prospective study includes patients undergoing AR. The exclusion criteria will be as follows: Patients with nasal infection, nasal polyps, nasal tumors, mental disorders, and immunodeficiency will be excluded. Air pollution levels of ambient air pollutants including PM2.5, PM10, sulfur dioxide (SO2), nitrogen dioxide (NO2), carbon dioxide (CO), and O3, and patient data will be collected. The correlation analysis will be performed in air pollutants and AR risk. DISCUSSION: This study will provide correlation of NO2, SO2, PM10, and PM2.5 for AR in several aspects, including symptom score, drug score, quality of life score, asthma control score, side effects, and laboratory examination such as nasal function test, serum total immunoglobulin E, and nasal secretion smear.

Enhanced ethanol production from sugarcane molasses by industrially engineered Saccharomyces cerevisiae via replacement of the PHO4 gene.

Replacement of a novel candidate ethanol fermentation-associated regulatory gene, PHO4, from a fast-growing strain MC15, as determined through comparative genomics analysis among three yeast strains with significant differences in ethanol yield, is hypothesised to shorten the fermentation time and enhance ethanol production from sugarcane molasses. This study sought to test this hypothesis through a novel strategy involving the transfer of the PHO4 gene from a low ethanol-producing, yet fast-growing strain MC15 to a high ethanol-producing industrial strain MF01 through homologous recombination. The results indicated that PHO4 in the industrially engineered strain MF01-PHO4 displayed genomic stability with a mean maximum ethanol yield that rose to 114.71 g L-1, accounting for a 5.30% increase in ethanol yield and 12.5% decrease in fermentation time in comparison with that in the original strain MF01, which was the current highest ethanol-producing strain in SCM fermentation in the reported literature. These results serve to advance our current understanding of the association between improving ethanol yield and replacement of PHO4, while providing a feasible strategy for industrially engineered yeast strains to improve ethanol production efficiently.

[The study of preserving the great auricular nerve in the parotidectomy].

OBJECTIVE: To assess the effect for local sensory to preserve great auricular nerve in the parotidectomy. METHOD: It was a prospective study. Eighy-one patients who underwent parotidectomy were randomly divided into 2 groups, preserving the great auricular nerve group and no preserving the great auricular nerve group. They were tested with the subjective and objective sensory function testing in 3, 6, 9, 12 months after operation. We assessed the result. RESULT: In the subjective sensory function testing, the result of the preserving the great auricular nerve group was better than no preserving the great auricular nerve group. In the objective sensory function testing, the result of the preserving the great auricular nerve group was obviously better than no preserving the great auricular nerve group. There was significant difference between the 2 groups (P<0.05). CONCLUSION: It was effective for recovering the sensory function that we preserved the great auricular nerve in the parotidectomy.

Identification by microarray technology of key genes involved in the progression of carotid atherosclerotic plaque.

A comparative analysis of gene expression profiles between early and advanced carotid atherosclerotic plaque was performed to identify key genes and pathways involved in the progression of carotid atherosclerotic plaque. Gene expression data set GSE28829 was downloaded from Gene Expression Omnibus, including 13 early and 16 advanced atherosclerotic plaque samples from human carotid. Differentially expressed genes (DEGs) were identified using the package limma of R. Principal component analysis was carried out for the DEGs with package rgl of R. A gene coexpression network was constructed with information from COXPRESdb and then visualized with Cytoscape. Functional enrichment analysis was performed with DAVID and pathway enrichment analysis was done with KEGG. A total of 319 DEGs were identified in the advanced atherosclerotic plaque samples compared with early atherosclerotic plaque samples, including 267 up-regulated genes and 52 down-regulated genes. In the gene coexpression network, TYRO protein tyrosine kinase binding protein was the hub gene with a degree of 23. Functional enrichment analysis and pathway enrichment analysis suggested that the immune response played a critical role in the progression of carotid atherosclerotic plaque. A number of key genes were revealed in carotid atherosclerotic plaque, and are potential biomarkers for diagnosis or treatment. These findings may also guide future research to better decipher the progression of atherosclerosis.

Endovascular management of vertebrobasilar artery dissecting aneurysms.

AIM: The prognosis of VBA aneurysms seems poor and surgical management of VBA dissecting aneurysms is challenging. We evaluated our endovascular experience in management of ruptured and unruptured VBA dissecting aneurysms. MATERIAL AND METHODS: Eleven consecutive patients with eleven VBA aneurysms (3 ruptured and 8 unruptured) between 2008 and 2010 were retrospectively reviewed. RESULTS: Immediate postprocedural angiograms showed complete occlusion in 5 and subtotal occlusion in 2 aneurysms treated with stentassisted coiling, whereas no occlusion in 4 aneurysms treated with stenting alone. A clinical improvement or stable outcome was achieved in all patients. There was no complication in our patients and no patient died after treatment. Angiographic follow-up (mean 9.7 months, 1 to 23 months) showed complete cure in 8 aneurysms, subtotal occlusion in 2 and no occlusion in 1. CONCLUSION: VBA dissecting aneurysms can be managed by endovascular stent placement with or without coiling. In cases that cannot be treated with neurostents, proximal occlusion could be an option.