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Browsing by Author "Chen, Xiao-Feng"
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Item Blunt aortic injury-traumatic aortic isthmus pseudoaneurysm with right iliac artery dissection aneurysm: A case report(Baishideng Publishing Group, 2022) Fang, Xiao-Xin; Wu, Xin-Hui; Chen, Xiao-Feng; Radiation Oncology, School of MedicineBackground: Blunt aortic injury is a special type of aortic disease. Due to its low incidence, high prehospital mortality and high probability of leakage diagnosis, the timely identification of patients with blunt aortic injury who survive the initial injury has always been a clinical challenge. Case summary: We report a case of traumatic aortic pseudoaneurysm with right iliac artery dissection aneurysm that was diagnosed 3 mo after a traffic accident. The patient is a 76-year-old male who was knocked down by a fast-moving four-wheel motor vehicle while crossing the road (the damage mechanism was side impact). He received chest, cranial computed tomography (CT) and whole abdomen enhanced CT in the local hospital. The images suggested subarachnoid hemorrhage, right frontoparietal scalp hematoma, fracture of the right clavicle and second rib, lump-shaped mediastinal shadow outside the anterior descending thoracic aorta (mediastinal hematoma), mesenteric vascular injury with hematoma formation, pelvic fracture, and subluxation of the left sacroiliac joint. After the pelvic fracture was fixed with an external stent, he was sent to our hospital for further treatment. In our hospital, he successfully underwent partial resection of the small intestine and CT-guided screw internal fixation of the left sacroiliac joint and returned to the local hospital for rehabilitation treatment. However, since the accident, the patient has been suffering from mild chest pain, which has not aroused the attention of clinicians. During rehabilitation, his chest pain gradually worsened, and the thoracic aorta computed tomography angiography performed in the local hospital showed a pseudoaneurysm in the initial descending segment of the aortic arch. After transfer to our hospital, a dissecting aneurysm of the right external iliac artery was incidentally found in the preoperative evaluation. Finally, endovascular stent graft repair was performed, and he was discharged on the 10th day after the operation. No obvious endo-leak was found after 4 years of follow-up. Conclusion: We highlight that emergency trauma centers should consider the possibility of aortic injury in patients with severe motor vehicle crashes and repeat the examination when necessary to avoid missed diagnoses.Item High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes(Elsevier, 2023) Duan, Yuan-Yuan; Chen, Xiao-Feng; Zhu, Ren-Jie; Jia, Ying-Ying; Huang, Xiao-Ting; Zhang, Meng; Yang, Ning; Dong, Shan-Shan; Zeng, Mengqi; Feng, Zhihui; Zhu, Dong-Li; Wu, Hao; Jiang, Feng; Shi, Wei; Hu, Wei-Xin; Ke, Xin; Chen, Hao; Liu, Yunlong; Jing, Rui-Hua; Guo, Yan; Li, Meng; Yang, Tie-Lin; Medical and Molecular Genetics, School of MedicineMost of the single-nucleotide polymorphisms (SNPs) associated with insulin resistance (IR)-relevant phenotypes by genome-wide association studies (GWASs) are located in noncoding regions, complicating their functional interpretation. Here, we utilized an adapted STARR-seq to evaluate the regulatory activities of 5,987 noncoding SNPs associated with IR-relevant phenotypes. We identified 876 SNPs with biased allelic enhancer activity effects (baaSNPs) across 133 loci in three IR-relevant cell lines (HepG2, preadipocyte, and A673), which showed pervasive cell specificity and significant enrichment for cell-specific open chromatin regions or enhancer-indicative markers (H3K4me1, H3K27ac). Further functional characterization suggested several transcription factors (TFs) with preferential allelic binding to baaSNPs. We also incorporated multi-omics data to prioritize 102 candidate regulatory target genes for baaSNPs and revealed prevalent long-range regulatory effects and cell-specific IR-relevant biological functional enrichment on them. Specifically, we experimentally verified the distal regulatory mechanism at IRS1 locus, in which rs952227-A reinforces IRS1 expression by long-range chromatin interaction and preferential binding to the transcription factor HOXC6 to augment the enhancer activity. Finally, based on our STARR-seq screening data, we predicted the enhancer activity of 227,343 noncoding SNPs associated with IR-relevant phenotypes (fasting insulin adjusted for BMI, HDL cholesterol, and triglycerides) from the largest available GWAS summary statistics. We further provided an open resource (http://www.bigc.online/fnSNP-IR) for better understanding genetic regulatory mechanisms of IR-relevant phenotypes.