155 results on '"Yiming Qi"'
Search Results
2. High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases
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Yimo Zeng, Hongke Ding, Xingwang Wang, Yanlin Huang, Ling Liu, Li Du, Jian Lu, Jing Wu, Yukun Zeng, Mingqin Mai, Juan Zhu, Lihua Yu, Wei He, Fangfang Guo, Haishan Peng, Cuize Yao, Yiming Qi, Yuan Liu, Fake Li, Jiexia Yang, Rong Hu, Jie Liang, Jicheng Wang, Wei Wang, Yan Zhang, and Aihua Yin
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Copy number variations ,Chromosome microarray ,Exome sequencing ,Multiplex ligation-dependent probe amplification assay ,Real-time quantitative polymerase chain reaction ,Medicine - Abstract
Abstract Background Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood. We aimed to evaluate the detection of both large and small CNVs using CES in a substantial clinical cohort, including parent–offspring trios and proband only analysis. Methods We conducted a retrospective analysis of CES data from 2428 families, collected from 2018 to 2021. Detected CNV were categorized as large or small, and various validation techniques including chromosome microarray (CMA), Multiplex ligation-dependent probe amplification assay (MLPA), and/or PCR-based methods, were employed for cross-validation. Results Our CNV discovery pipeline identified 171 CNV events in 154 cases, resulting in an overall detection rate of 6.3%. Validation was performed on 113 CNVs from 103 cases to assess CES reliability. The overall concordance rate between CES and other validation methods was 88.49% (100/113). Specifically, CES demonstrated complete consistency in detecting large CNV. However, for small CNVs, consistency rates were 81.08% (30/37) for deletions and 73.91% (17/23) for duplications. Conclusion CES demonstrated high sensitivity and reliability in CNV detection. It emerges as an economical and dependable option for the clinical CNV detection in cases of developmental abnormalities, especially fetal structural abnormalities.
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- 2024
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3. A real-world pharmacovigilance study of FDA adverse event reporting system events for Capmatinib
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Yiming Qi, Jing Li, Sisi Lin, Shuangshuang Wu, Kequn Chai, Xin Jiang, Jiancheng Qian, and Cheng Jiang
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Medicine ,Science - Abstract
Abstract Capmatinib is a potent selective mesenchymal-epithelial transition inhibitor approved in 2020 for the treatment of metastatic non-small cell lung cancer. As real-world evidence is very limited, this study evaluated capmatinib-induced adverse events through data mining of the FDA Adverse Event Reporting System database. Four disproportionality analysis methods were employed to quantify the signals of capmatinib-related adverse events. The difference in capmatinib-associated adverse event signals was further investigated with respect to sex, age, weight, dose, onset time, continent, and concomitant drug. A total of 1518 reports and 4278 adverse events induced by capmatinib were identified. New significant adverse event signals emerged, such as dysphagia, dehydration, deafness, vocal cord paralysis, muscle disorder, and oesophageal stenosis. Notably, higher risk of alanine aminotransferase and aspartate aminotransferase increases were observed in females, especially when capmatinib was combined with immune checkpoint inhibitors. Compared with Europeans and Asians, Americans were more likely to experience peripheral swelling, especially in people > 65 years of age. Renal impairment and increased blood creatinine were more likely to occur with single doses above 400 mg and in Asians. This study improves the understanding of safety profile of capmatinib.
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- 2024
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4. Disruption of maternal vascular remodeling by a fetal endoretrovirus-derived gene in preeclampsia
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Xiaoli Gong, Wei He, Wan Jin, Hongwei Ma, Gang Wang, Jiaxin Li, Yu Xiao, Yangyu Zhao, Qiong Chen, Huanhuan Guo, Jiexia Yang, Yiming Qi, Wei Dong, Meng Fu, Xiaojuan Li, Jiusi Liu, Xinghui Liu, Aihua Yin, Yi Zhang, and Yuan Wei
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Biology (General) ,QH301-705.5 ,Genetics ,QH426-470 - Abstract
Abstract Background Preeclampsia, one of the most lethal pregnancy-related diseases, is associated with the disruption of uterine spiral artery remodeling during placentation. However, the early molecular events leading to preeclampsia remain unknown. Results By analyzing placentas from preeclampsia, non-preeclampsia, and twin pregnancies with selective intrauterine growth restriction, we show that the pathogenesis of preeclampsia is attributed to immature trophoblast and maldeveloped endothelial cells. Delayed epigenetic reprogramming during early extraembryonic tissue development leads to generation of excessive immature trophoblast cells. We find reduction of de novo DNA methylation in these trophoblast cells results in selective overexpression of maternally imprinted genes, including the endoretrovirus-derived gene PEG10 (paternally expressed gene 10). PEG10 forms virus-like particles, which are transferred from the trophoblast to the closely proximate endothelial cells. In normal pregnancy, only a low amount of PEG10 is transferred to maternal cells; however, in preeclampsia, excessive PEG10 disrupts maternal vascular development by inhibiting TGF-beta signaling. Conclusions Our study reveals the intricate epigenetic mechanisms that regulate trans-generational genetic conflict and ultimately ensure proper maternal–fetal interface formation.
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- 2024
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5. Biomarker profiling to determine clinical impact of microRNAs in cognitive disorders
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Weijie Zhai, Meng Zhao, Chunxiao Wei, Guimei Zhang, Yiming Qi, Anguo Zhao, and Li Sun
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Alzheimer’s disease ,Bioinformatics ,Cognitive impairment ,Dementia ,Post-stroke cognitive impairment ,MicroRNA ,Medicine ,Science - Abstract
Abstract Alzheimer’s disease (AD) and post-stroke cognitive impairment (PSCI) are the leading causes of progressive dementia related to neurodegenerative and cerebrovascular injuries in elderly populations. Despite decades of research, patients with these conditions still lack minimally invasive, low-cost, and effective diagnostic and treatment methods. MicroRNAs (miRNAs) play a vital role in AD and PSCI pathology. As they are easily obtained from patients, miRNAs are promising candidates for the diagnosis and treatment of these two disorders. In this study, we performed complete sequencing analysis of miRNAs from 24 participants, split evenly into the PSCI, post-stroke non-cognitive impairment (PSNCI), AD, and normal control (NC) groups. To screen for differentially expressed miRNAs (DE-miRNAs) in patients, we predicted their target genes using bioinformatics analysis. Our analyses identified miRNAs that can distinguish between the investigated disorders; several of them were novel and never previously reported. Their target genes play key roles in multiple signaling pathways that have potential to be modified as a clinical treatment. In conclusion, our study demonstrates the potential of miRNAs and their key target genes in disease management. Further in-depth investigations with larger sample sizes will contribute to the development of precise treatments for AD and PSCI.
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- 2024
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6. Mean compression ratio of a self-expandable valve is associated with the need for pacemaker implantation after transcatheter aortic valve replacement
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Yiming Qi, Yuefan Ding, Wenzhi Pan, Xiaochun Zhang, Xiaolei Lin, Shasha Chen, Lei Zhang, Daxin Zhou, and Junbo Ge
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TAVR ,Self-expandable valve ,Pacemaker implantation ,Compression level ,Mechanical stress ,Medicine - Abstract
Abstract Background The risk and timing of permanent pacemaker implantation (PPMI) after transcatheter aortic valve replacement (TAVR) is still hard to predict. We aimed to analyze the relationship between the compression ratio of a self-expandable valve (SEV) and the need for PPMI after TAVR. Methods A total of 106 patients who were implanted with the VitaFlow transcatheter aortic valve system and for whom complete imaging information was available were included in this retrospective cohort study. Eight lines perpendicular to the long axis of the SEV were drawn (the top and bottom of the SEV and the intersection of each row of wires) for measurement purposes. The compression ratio was calculated as 1 − (in vivo meridian/in vitro meridian) and compared between patients undergoing and those not undergoing PPMI after adjusting for implantation depth. Multivariable logistic regression and Cox proportional hazards models were used to assess factors associated with the risk and timing of the need for PPMI. Results Fifteen (14.2%) patients underwent PPMI after TAVR. Patients with a higher mean compression ratio (20%, odds ratio [OR] = 214.82; p
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- 2024
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7. A novel detection method based on MIRA-CRISPR/Cas13a-LFD targeting the repeated DNA sequence of Trichomonas vaginalis
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Zhenke Yang, Jinghui Wang, Yiming Qi, Yiping Shi, Fakun Li, Weijuan Wang, Xiaowei Tian, Xuefang Mei, Zhenchao Zhang, and Shuai Wang
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Trichomonas vaginalis ,CRISPR/Cas13a ,Diagnosis ,Visualized ,Lateral flow device ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Background Trichomonas vaginalis is a protozoan parasite, widely recognized as the most prevalent non-viral sexually transmitted infection (STI) globally. This infection is linked to various complications, including pelvic inflammatory disease, adverse pregnancy outcomes, and an increased risk of acquiring HIV. Current molecular detection methods for T. vaginalis are often costly and technically challenging. Methods We developed a novel detection method for T. vaginalis using a multi-enzyme isothermal rapid amplification–clustered regularly interspaced short palindromic repeats (MIRA-CRISPR)/Cas13a-lateral flow device (LFD). This assay targets the repeated DNA sequence (GenBank: L23861.1) of T. vaginalis and is performed at a constant temperature of 37 °C for approximately 1 hour. Results The detection limit of genomic DNA (gDNA) using our protocol was 1 × 10–4 ng/μl. Specificity was confirmed by the absence of cross-reaction with gDNA from various other microorganisms such as Staphylococcus aureus, Lactobacillus taiwanensis, Escherichia coli, Monilia albicans, Giardia lamblia, or Toxoplasma gondii. Among 30 clinical samples tested, the positive rates of T. vaginalis detection were 33.33% (10/30) by wet mount microscopy, 40% (12/30) by nested polymerase chain reaction (PCR), 40% (12/30) by MIRA-CRISPR/Cas13a-LFD, and 40% (12/30) by the culture method. Compared with the culture method, the gold standard for diagnosing trichomoniasis, wet mount microscopy showed a sensitivity of 83.3% and moderate diagnostic agreement (kappa value = 0.87). Both nested PCR and MIRA-CRISPR/Cas13a-LFD exhibited 100% sensitivity and excellent diagnostic agreement (kappa value = 1). Conclusions The MIRA-CRISPR/Cas13a-LFD method is a convenient, rapid, stable, and accurate diagnostic tool for detecting T. vaginalis. This method has the potential to enhance the diagnosis and management of vaginitis, offering a significant improvement over existing diagnostic techniques. Graphical Abstract
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- 2024
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8. Impact of current targeted drug therapy on the prognosis of Eisenmenger syndrome: A large-scale retrospective analysis
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Lifan Yang, Lihua Guan, Dandan Chen, Xiaochun Zhang, Yuan Zhang, Shasha Chen, Wei Li, Yiming Qi, Daxin Zhou, Wenzhi Pan, and Junbo Ge
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Eisenmenger syndrome ,etiology ,drug treatment ,survival rate ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Background: Data regarding the prognosis of Eisenmenger syndrome (ES) and effect of targeted drugs are limited. This study aimed to analyze the prognosis and impact of targeted drug therapy on the survival rate of patients with ES in the Chinese population. Methods: The data of patients with ES referred to our hospital between January 2010 and December 2020 were retrospectively analyzed. Data included baseline demographics, echocardiographic parameters, and clinical diagnoses. All patients were followed up via telephone interviews in February 2022. The primary endpoint was mortality. Results: Overall, 1,021 patients with ES were included. The 1-, 3-, 5-, 7-, 10-, and 12-year survival rates were 91.6%, 84.2%, 80.7%, 73.8%, 71.4%, and 69.9%, respectively. Patients with atrial septal defects had the best prognosis than those with ventricular septal defects, patent ductus arteriosus, and complex congenital heart disease (CHD) (P
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- 2023
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9. A prediction model for permanent pacemaker implantation after transcatheter aortic valve replacement
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Yiming Qi, Xiaolei Lin, Wenzhi Pan, Xiaochun Zhang, Yuefan Ding, Shasha Chen, Lei Zhang, Daxin Zhou, and Junbo Ge
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TAVR ,Pacemaker implantation ,Heart block ,Risk prediction ,Mechanical stress ,Medicine - Abstract
Abstract Background This study aims to develop a post-procedural risk prediction model for permanent pacemaker implantation (PPMI) in patients treated with transcatheter aortic valve replacement (TAVR). Methods 336 patients undergoing TAVR at a single institution were included for model derivation. For primary analysis, multivariate logistic regression model was used to evaluate predictors and a risk score system was devised based on the prediction model. For secondary analysis, a Cox proportion hazard model was performed to assess characteristics associated with the time from TAVR to PPMI. The model was validated internally via bootstrap and externally using an independent cohort. Results 48 (14.3%) patients in the derivation set had PPMI after TAVR. Prior right bundle branch block (RBBB, OR: 10.46; p
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- 2023
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10. When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes
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Xueqi Ji, Qiongmei Li, Yiming Qi, Xingwang Wang, Hongke Ding, Jian Lu, Yan Zhang, and Aihua Yin
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WES ,NIPT ,NT thickening ,CMA ,prenatal diagnosis ,Genetics ,QH426-470 - Abstract
Objective: To assess the performance of diverse prenatal diagnostic approaches for nuchal translucency (NT) thickening and to investigate the optimal prenatal screening or diagnostic action with a NT thickening of 95th percentile-3.50 mm.Methods: A retrospective analysis of 2,328 pregnancies with NT ≥ 95th percentile through ultrasound-guided transabdominal chorionic villus sampling (CVS), amniocentesis, or cordocentesis obtained clinical samples (chorionic villi, amniotic fluid, and cord blood), and real-time quantitative fluorescent PCR (QF-PCR), chromosome karyotyping (CS), chromosome microarray analysis (CMA), or whole exome sequencing (WES) were provided to identify genetic etiologies.Results: In this study, the incidence of chromosomal defects increased with NT thickness. When NT ≥ 6.5 mm, 71.43% were attributed to genetic abnormalities. The 994 gravidas with fetal NT thickening underwent short tandem repeat (STR), CS, and CMA. In 804 fetuses with normal karyotypes, CMA detected 16 (1.99%) extra pathogenic or likely pathogenic copy number variations (CNVs). The incremental yield of CMA was only 1.16% (3/229) and 3.37% (10/297) in the group with NT 95th percentile-2.99 mm and NT 3.0–3.49 mm, separately. Among the 525 gravidas with fetal NT thickening who underwent STR, CMA, and WES, the incremental yield of WES was 4.09% (21/513). In the group of NT 95th percentile-2.99 mm, there were no additional single-nucleotide variations (SNVs) detected in WES, while in 143 cases with NT of 3.0–3.49 mm, the incremental yield of WES was 5.59% (8/143).Conclusion: In the group of NT 95th percentile-3.0 mm, since chromosomal aneuploidy and chromosomal copy number variation were the primary causes and the additional contribution of CMA and WES was not significant, we recommend NIPT-Plus for pregnant women with a NT thickening of 95th percentile-3.0 mm first. In addition, comprehensive prenatal genetic testing involving CMA and WES can benefit pregnancies with NT thickening of 3.0–3.49 mm.
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- 2023
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11. GSH-sensitive polymeric prodrug: Synthesis and loading with photosensitizers as nanoscale chemo-photodynamic anti-cancer nanomedicine
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Lei Luo, Yiming Qi, Hong Zhong, Shinan Jiang, Hu Zhang, Hao Cai, Yahui Wu, Zhongwei Gu, Qiyong Gong, and Kui Luo
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Stimuli responsiveness ,Polymeric prodrug ,Photodynamic therapy ,Combinational therapy ,Nanomedicine ,Therapeutics. Pharmacology ,RM1-950 - Abstract
Precisely delivering combinational therapeutic agents has become a crucial challenge for anti-tumor treatment. In this study, a novel redox-responsive polymeric prodrug (molecular weight, MW: 93.5 kDa) was produced by reversible addition–fragmentation chain transfer (RAFT) polymerization. The amphiphilic block polymer-doxorubicin (DOX) prodrug was employed to deliver a hydrophobic photosensitizer (PS), chlorin e6 (Ce6), and the as-prepared nanoscale system [NPs(Ce6)] was investigated as a chemo-photodynamic anti-cancer agent. The glutathione (GSH)-cleavable disulfide bond was inserted into the backbone of the polymer for biodegradation inside tumor cells, and DOX conjugated onto the polymer with a disulfide bond was successfully released intracellularly. NPs(Ce6) released DOX and Ce6 with their original molecular structures and degraded into segments with low MWs of 41.2 kDa in the presence of GSH. NPs(Ce6) showed a chemo-photodynamic therapeutic effect to kill 4T1 murine breast cancer cells, which was confirmed from a collapsed cell morphology, a lifted level in the intracellular reactive oxygen species, a reduced viability and induced apoptosis. Moreover, ex vivo fluorescence images indicated that NPs(Ce6) retained in the tumor, and exhibited a remarkable in vivo anticancer efficacy. The combinational therapy showed a significantly increased tumor growth inhibition (TGI, 58.53%). Therefore, the redox-responsive, amphiphilic block polymeric prodrug could have a great potential as a chemo-photodynamic anti-cancer agent.
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- 2022
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12. A spectrum of clinical severity of recessive titinopathies in prenatal
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Yiming Qi, Xueqi Ji, Hongke Ding, Yunan Wang, Xin Liu, Yan Zhang, and Aihua Yin
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TTN metatranscript-only ,hydrops fetalis ,arthrogryposis ,prenatal diagnostics ,titinopathies ,Genetics ,QH426-470 - Abstract
Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons. Next-generation sequencing has facilitated the prenatal identification of a growing number of suspected titinopathy variants. We investigated six affected foetuses from three families, completed the intrauterine course of the serial phenotypic spectrum of TTN, and discussed the genotype-phenotype correlations from a broader perspective. The recognizable prenatal feature onset at the second trimester was started with reduced movement, then contracture 3–6 weeks later, followed with/without hydrops, finally at late pregnancy was accompanied with polyhydramnio (major) or oligohydramnios. Two cases with typical arthrogryposis-hydrops sequences identified a meta-only transcript variant c.36203-1G>T. Deleterious transcriptional consequences of the substitution were verified by minigene splicing analysis. Case 3 identified a homozygous splicing variant in the constitutively expressed Z-disc. It presented a milder phenotype than expected, which was presumably saved by the isoform of corons. A summary of the foetal-onset titinopathy cases implied that variants in TTN present with a series of signs and a spectrum of clinical severity, which followed the dosage/positional effect; the meta-only transcript allele involvement may be a prerequisite for the development of fatal hydrops.
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- 2023
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13. Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype
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Jia Li, Jiaqi Lu, Fengxia Su, Jiexia Yang, Jia Ju, Yu Lin, Jinjin Xu, Yiming Qi, Yaping Hou, Jing Wu, Wei He, Zhengtao Yang, Yujing Wu, Zhuangyuan Tang, Yingping Huang, Guohong Zhang, Ying Yang, Zhou Long, Xiaofang Cheng, Ping Liu, Jun Xia, Yanyan Zhang, Yicong Wang, Fang Chen, Jianguo Zhang, Lijian Zhao, Xin Jin, Ya Gao, and Aihua Yin
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non-invasive prenatal diagnosis ,massively parallel sequencing ,fetal genome ,single nucleotide variations ,monogenic disease ,Genetics ,QH426-470 - Abstract
Background: Non-invasive prenatal diagnosis (NIPD) can identify monogenic diseases early during pregnancy with negligible risk to fetus or mother, but the haplotyping methods involved sometimes cannot infer parental inheritance at heterozygous maternal or paternal loci or at loci for which haplotype or genome phasing data are missing. This study was performed to establish a method that can effectively recover the whole fetal genome using maternal plasma cell-free DNA (cfDNA) and parental genomic DNA sequencing data, and validate the method’s effectiveness in noninvasively detecting single nucleotide variations (SNVs), insertions and deletions (indels).Methods: A Bayesian model was developed to determine fetal genotypes using the plasma cfDNA and parental genomic DNA from five couples of healthy pregnancy. The Bayesian model was further integrated with a haplotype-based method to improve the inference accuracy of fetal genome and prediction outcomes of fetal genotypes. Five pregnancies with high risks of monogenic diseases were used to validate the effectiveness of this haplotype-assisted Bayesian approach for noninvasively detecting indels and pathogenic SNVs in fetus.Results: Analysis of healthy fetuses led to the following accuracies of prediction: maternal homozygous and paternal heterozygous loci, 96.2 ± 5.8%; maternal heterozygous and paternal homozygous loci, 96.2 ± 1.4%; and maternal heterozygous and paternal heterozygous loci, 87.2 ± 4.7%. The respective accuracies of predicting insertions and deletions at these types of loci were 94.6 ± 1.9%, 80.2 ± 4.3%, and 79.3 ± 3.3%. This approach detected pathogenic single nucleotide variations and deletions with an accuracy of 87.5% in five fetuses with monogenic diseases.Conclusions: This approach was more accurate than methods based only on Bayesian inference. Our method may pave the way to accurate and reliable NIPD.
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- 2022
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14. Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome
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Yiming Qi, Xueqi Ji, Hongke Ding, Ling Liu, Yan Zhang, and Aihua Yin
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BRAT1 ,nonprogressive cerebellar ataxia syndrome ,synonymous variant ,intron retention ,prenatal diagnosis ,Genetics ,QH426-470 - Abstract
Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death. Recently, attenuated disease variants have been described, suggesting that a wider clinical spectrum of BRAT1-associated neurodegeneration exists than was previously thought. Here, we reported a 10-year-old girl with severe intellectual disability, rigidity, ataxia or dyspraxia, and cerebellar atrophy on brain MRI; two BRAT1 variants in the trans configuration [c.1014A > C (p.Pro338 = ); c.706delC (p.Leu236Cysfs*5)] were detected using whole-exome sequencing. RNA-seq confirmed significantly decreased BRAT1 transcript levels in the presence of the variant; further, it revealed an intron retention between exon 7 and exon 8 caused by the synonymous base substitute. Subsequent prenatal diagnosis for these two variants guided the parents to reproduce. We expand the phenotypic spectrum of BRAT1-associated disorders by first reporting the pathogenic synonymous variant of the BRAT1 gene, resulting in clinical severity that is mild compared to the severe phenotype seen in RMFSL. Making an accurate diagnosis and prognostic evaluation of BRAT1-associated neurodegeneration is important for reproductive consultation and disease management.
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- 2022
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15. Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports
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Yiming Qi, Jiexia Yang, Yaping Hou, Rong Hu, Dongmei Wang, Haishan Peng, and Aihua Yin
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Genetics ,QH426-470 - Abstract
Abstract Background Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology. However, the clinical utility and validity of this screening for CNVs are still unknown. Here, we discuss some special conditions in which both cases simultaneously exhibited false positives caused by maternal CNVs and false negatives due to limitations of the technology. Case presentation In case 1, NIPT indicated a 1.1 Mb deletion at 21q21.1, but the umbilical cord for array CGH (aCGH) revealed a 422 kb deletion at 15q13.3. Peripheral blood of the parents for aCGH showed a 1.1 Mb deletion at 21q21.1 in the mother’s sample, and the same deletion at 15q13.3 was detected in the father’s blood. In case 2, NIPT showed a 1.5 Mb deletion at 22q11.21, but aCGH of amniocytes revealed a 1.377 Mb duplication rather than a 1.5 Mb deletion at 22q11.21. Furthermore, aCGH analysis of the parental blood revealed a 647 kb deletion at 22q11.21 in the mother and a 2.8 Mb duplication of 22q11.21 in the father. Conclusions Our findings not only highlight the significance of diagnostic testing following a positive cfDNA sequencing result but also the necessity for additional analytical and clinical validation before routine use in practice.
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- 2020
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16. Comparison of oral and intravenous tranexamic acid in total hip arthroplasty: a systematic review and meta-analysis
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Yiming Qi, Yingjuan Li, Chen Wang, Hui Chen, and Yunfeng Rui
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Tranexamic acid ,Oral ,Intravenous ,Total hip arthroplasty ,Meta-analysis ,Blood loss ,Orthopedic surgery ,RD701-811 - Abstract
Abstract Background Total hip arthroplasty is associated with substantial blood loss which can lead to postoperative anemia. The purpose of this systematic review and meta-analysis was to compare efficacy and safety of oral tranexamic acid (TXA) and intravenous TXA. Methods PubMed, EMBASE, and Cochrane Library were searched from inception until December 2019. A combined searching strategy of subject words and random words was adopted. Only clinical randomized controlled trials were included. The comparisons were made with regard to total blood loss, hemoglobin drop, transfusion rate, and postoperative thromboembolic complications including deep vein thrombolism (DVT) and pulmonary embolism (PE). The meta-analysis was conducted by using the Review Manager 5.3, and bias evaluation was performed based on the Cochrane Handbook 5.1.0. Results In this meta-analysis, five randomized controlled trials were included. The results showed that there were no significant differences between the oral TXA group and intravenous TXA group concerning total blood loss [mean difference (MD) =3.01, 95% confidence interval (95% CI): − 43.90 to 49.92, p = 0.90], hemoglobin drop (MD = 0.05, 95% CI: − 0.10 to 0.20, p = 0.50) and transfusion rate of allogeneic blood [risk ratio (RR) =1.09, 95% CI: 0.46 to 2.62, p = 0.84]. No significant difference was found in the incidence of thromboembolic events (RR = 1.71, 95% CI: 0.71 to 4.16, p = 0.97). Conclusions Compared with intravenous TXA, oral TXA is equally able to reduce total blood loss, hemoglobin drop, and transfusion requirement for total hip arthroplasty. It is a lower-cost method that does not increase the incidence of thromboembolic events.
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- 2020
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17. Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening
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Yaping Hou, Jiexia Yang, Yiming Qi, Fangfang Guo, Haishan Peng, Dongmei Wang, Yixia Wang, Xiaohui Luo, Yi Li, and Aihua Yin
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Cell-free fetal DNA (cffDNA) ,Fetal fraction ,Gestational age ,Maternal BMI ,Maternal age ,Medicine ,Genetics ,QH426-470 - Abstract
Abstract Background The identification of cell-free fetal DNA (cffDNA) facilitated non-invasive prenatal screening (NIPS) through analysis of cffDNA in maternal plasma. However, challenges regarding its clinical implementation become apparent. Factors affecting fetal fraction should be clarified to guide its clinical application. Results A total of 13,661 pregnant subjects with singleton pregnancies who undertook NIPS were included in the study. Relationship of gestational age, maternal BMI, and maternal age with the cffDNA fetal fraction in maternal plasmas for NIPS was investigated. Compared with 13 weeks (12.74%) and 14–18 weeks group (12.73%), the fetal fraction in gestational ages of 19–23 weeks, 24–28 weeks, and more than 29 weeks groups significantly increased to 13.11%, 16.14%, and 21.17%, respectively (P
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- 2019
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18. A Population-Based Study: How to Identify High-Risk T1–2 Esophageal Cancer Patients?
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Yiming Qi, Shuangshuang Wu, Linghui Tao, Guoshu Xu, Jiabin Chen, Zhengquan Feng, Chao Lu, Yanli Wan, and Jing Li
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lymph node metastasis ,distant metastasis ,overall survival ,nomogram ,SEER database ,T1–2 esophageal cancer ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
BackgroundDue to individualized conditions of lymph node metastasis (LNM) and distant metastasis (DM), the following therapeutic strategy and diagnosis of T1–2 esophageal cancer (ESCA) patients are varied. A prediction model for identifying risk factors for LNM, DM, and overall survival (OS) of high-risk T1–2 ESCA patients is of great significance to clinical practice.MethodsA total of 1,747 T1–2 ESCA patients screened from the surveillance, epidemiology, and end results (SEER) database were retrospectively analyzed for their clinical data. Univariate and multivariate logistic regression models were established to screen out risk factors for LNM and DM of T1-2 ESCA patients, while those of OS were screened out using the Cox regression analysis. The identified risk factors for LNM, DM, and OS were then subjected to the establishment of three nomograms, respectively. The accuracy of the nomograms was evaluated by depicting the calibration curve, and the predictive value and clinical utility were evaluated by depicting the clinical impact curve (CIC) and decision curve analysis (DCA), respectively.ResultsThe age, race, tumor grade, tumor size, and T-stage were significant factors for predicting LNM of T1–2 ESCA patients (p < 0.05). The age, T-stage, tumor grade, and tumor size were significant factors for predicting DM of T1–2 ESCA patients (p < 0.05). The age, race, sex, histology, primary tumor site, tumor size, N-stage, M-stage, and surgery were significant factors for predicting OS of T1–2 ESCA patients (p < 0.05). The C-indexes of the three nomograms constructed by these factors were 0.737, 0.764, and 0.740, respectively, suggesting that they were clinically effective.ConclusionsThe newly constructed nomograms can objectively and accurately predict the LNM, DM, and OS of T1–2 ESCA patients, which contribute to the individualized decision making before clinical management.
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- 2021
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19. Development of Nomograms for Predicting Lymph Node Metastasis and Distant Metastasis in Newly Diagnosed T1-2 Non-Small Cell Lung Cancer: A Population-Based Analysis
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Yiming Qi, Shuangshuang Wu, Linghui Tao, Yunfu Shi, Wenjuan Yang, Lina Zhou, Bo Zhang, and Jing Li
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SEER database ,T1-2 non-small cell lung cancer ,lymph node metastasis ,distant metastasis ,nomogram ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
BackgroundFor different lymph node metastasis (LNM) and distant metastasis (DM), the diagnosis, treatment and prognosis of T1-2 non-small cell lung cancer (NSCLC) are different. It is essential to figure out the risk factors and establish prediction models related to LNM and DM.MethodsBased on the surveillance, epidemiology, and end results (SEER) database from 1973 to 2015, a total of 43,156 eligible T1-2 NSCLC patients were enrolled in the retrospective study. Logistic regression analysis was used to determine the risk factors of LNM and DM. Risk factors were applied to construct the nomograms of LNM and DM. The predictive nomograms were discriminated against and evaluated by Concordance index (C-index) and calibration plots, respectively. Decision curve analysis (DCAs) was accepted to measure the clinical application of the nomogram. Cumulative incidence function (CIF) was performed further to detect the prognostic role of LNM and DM in NSCLC-specific death (NCSD).ResultsEight factors (age at diagnosis, race, sex, histology, T-stage, marital status, tumor size, and grade) were significant in predicting LNM and nine factors (race, sex, histology, T-stage, N-stage, marital status, tumor size, grade, and laterality) were important in predicting DM(all, P< 0.05). The calibration curves displayed that the prediction nomograms were effective and discriminative, of which the C-index were 0.723 and 0.808. The DCAs and clinical impact curves exhibited that the prediction nomograms were clinically effective.ConclusionsThe newly constructed nomograms can objectively and accurately predict LNM and DM in patients suffering from T1-2 NSCLC, which may help clinicians make individual clinical decisions before clinical management.
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- 2021
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20. Research Progress of Imaging Methods for Detection of Microvascular Angina Pectoris in Diabetic Patients
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Yiming Qi, Lihua Li, Guoquan Feng, Chen Shao, Yue Cai, and Zhongqun Wang
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microvascular angina ,diabetes ,diagnosis ,imaging methods ,research progress ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Diabetes is a complex metabolic disease characterized by hyperglycemia. Its complications are various, often involving the heart, brain, kidney, and other essential organs. At present, the number of diabetic patients in the world is growing day by day. The cardiovascular disease caused by diabetes has dramatically affected the quality of life of diabetic patients. It is the leading cause of death of diabetic patients. Diabetic patients often suffer from microvascular angina pectoris without obstructive coronary artery disease. Still, there are typical ECG ischemia and angina pectoris, that is, chest pain and dyspnea under exercise. Unlike obstructive coronary diseases, nitrate does not affect chest pain caused by coronary microvascular angina in most cases. With the increasing emphasis on diabetic microvascular angina, the need for accurate diagnosis of the disease is also increasing. We can use SPECT, PET, CMR, MCE, and other methods to evaluate coronary microvascular function. SPECT is commonly used in clinical practice, and PET is considered the gold standard for non-invasive detection of myocardial blood flow. This article mainly introduces the research progress of these imaging methods in detecting microvascular angina in diabetic patients.
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- 2021
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21. A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom
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Yiming Qi, Hongke Ding, Yanlin Huang, Yukun Zeng, Lihua Yu, Ling Liu, Yan Zhang, and Aihua Yin
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cardiac rhabdomyoma ,prenatal diagnoses ,tuberous sclerosis (TSC) ,fetal tumor ,targeted exome capture sequencing ,Pediatrics ,RJ1-570 - Abstract
The long-term prognosis of a fetus with cardiac rhabdomyoma (CR) depends on the correlation with tuberous sclerosis complex (TSC). In recent years, the numerous variations of uncertain significance (VUS) of TSC genes produced by high-throughput sequencing have made counseling challenging, studies until now have tended to side-step the tricky topics. Here, we integrated detailed parental phenotype, echocardiography, neuro MRI, and genetic information to conduct a comprehensive evaluation of 61 CR fetuses. As a result, multiple CRs and cerebral lesions appeared in 90 and 80%, respectively of fetuses with pathogenic (P)/likely pathogenic (LP) TSC1/TSC2 variations. Overall, 85.7% of the live-born infants with P/LP presented with TSC-associated signs. While, 85.7% of VUS without nervous findings had good prognoses. Genetic evidence and cerebral MRI findings are the most sensitive index to assess long-term prognosis, which complement and confirm each other for a TSC diagnosis. In total, 68.9% of fetuses with CR could benefit from this multidisciplinary approach, which turned out to be potentially clinically actionable with precise clinical/genetic diagnosis or had a foreseeable outcome. Our practice provides a practical and feasible solution for perinatal management and prognostic guidance for fetuses with CR.
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- 2021
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22. The significance of trisomy 7 mosaicism in noninvasive prenatal screening
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Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du, and Aihua Yin
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Trisomy 7 ,Noninvasive prenatal testing (NIPT) ,Confined placental mosaicism (CPM) ,Medicine ,Genetics ,QH426-470 - Abstract
Abstract Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between April 2015 and November 2017 due to suspicious NIPT results; these cases represented 0.11% of patients (35/31,250) with similar frequencies of abnormal results among the laboratories performing the tests. NIPT was offered to further screen for common fetal chromosomal abnormalities. Karyotype analysis, chromosomal microarray analysis (CMA), and next-generation sequencing (NGS) were used to detect 20, 14, and 25 patients, respectively, who accepted confirmatory diagnostic testing. Results High-risk results by NIPT were recorded for trisomy 7 alone in 29 women: dual aneuploidy in 4 patients and multiple aneuploidy in 2 patients. Karyotype analysis of amniotic fluid cells was normal in all 20 pregnancies, suggesting a probability of confined placental mosaicism. Further CMA data were obtained in 14 of the cases mentioned above, and 2 fetuses were detected with positive results with copy number variation. The NGS results suggested that all these samples were placental chimerisms of chromosome 7, except for one sample that was found to be an additional chimerism of chromosome 2, which was also consistent with the NIPT result. Conclusion Our results may be useful for the counseling of pregnant women in the detection of trisomy 7 by NIPT.
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- 2019
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23. Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies
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Jiexia Yang, Yiming Qi, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, O. Y. Haoxin, Yixia Wang, Huajie Huang, and Aihua Yin
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Non-invasive prenatal testing (NIPT) ,Twin pregnancy ,Trisomy 21 ,Assisted reproductive techniques (ART) ,Amniocentesis ,Genetics ,QH426-470 - Abstract
Abstract Background Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but there is still relatively little studies demonstrate the feasibility and clinical application of a NIPT for fetal aneuploidy screening in twin pregnancies. Results In this study, we have finished 432 twin pregnancies screening by NIPT. There were 4 double chorionic dichorionic diamniotic (DCDA) cases of true positive NIPT results, including 1of T18 and 3 of T21, and 1 monochorionic diamniotic (MCDA) cases of true positive NIPT results, including 1of T21. The combined false-positive frequency for trisomies 21, 18 was 0%. Furthermore, there were 2 cases of false positive NIPT results, including 1 of T7 and 1 of sex chromosome aneuploidy. There was no false negative case, which gave a combined sensitivity and specificity of 100 and 99.53% respectively. Conclusion Our study demonstrated NIPT performed well in the detection of trisomy 21 in twin pregnancy. It is feasible and clinical applicable of NIPT for fetal aneuploidy screening in twin pregnancies. But, it needs a large number of clinical samples to demonstrate the applicability of other chromosomal abnormalities besides trisomies 21 and 18 in both singleton pregnancies and twin pregnancies.
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- 2018
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24. A case of placental trisomy 18 mosaicism causing a false negative NIPT result
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Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY, and Aihua Yin
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The non-invasive prenatal testing (NIPT) ,Cell-free DNA (cfDNA) ,False negative ,Placental mosaicism ,Genetics ,QH426-470 - Abstract
Abstract Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist. Case presentation We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3.0 mm ventricular septal defect. Along with cordocentesis at 33GA, the cord blood sample cytogenetics analysis showed a mos 47,XN,+18[61]/46,XN[39] T18 karyotype. Six placental biopsies confirmed that the chromosome 18 placenta chimerism ratio had changed from 33% to 72%. Ultimately, the pregnancy was interrupted at 34GA. Conclusions We presented this case to highlight the need to clearly explain false positive or false negative results to patients. We believe that this information will also influence the development of future diagnostic test methodologies.
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- 2017
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25. IFI6 Inhibits Apoptosis via Mitochondrial-Dependent Pathway in Dengue Virus 2 Infected Vascular Endothelial Cells.
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Yiming Qi, Ying Li, Yingke Zhang, Lin Zhang, Zilian Wang, Xuzhi Zhang, Lian Gui, and Junqi Huang
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Medicine ,Science - Abstract
Dengue hemorrhagic fever (DHF)/Dengue shock syndrome (DSS) is a fatal infectious disease that demands an effective treatment. Interferon (IFN)-stimulated genes (ISGs) induced by dengue virus (DENV) exert antiviral effects. Among ISGs, IFN-α inducible gene 6 (IFI6) was increased in DENV infected human umbilical vascular endothelial cells (HUVECs) by microarray analysis in our previous study. However, its function is incompletely understood. In this study, we confirmed that IFI6 was markedly induced in DENV infection of both primary HUVECs and EA.hy926 cell lines. Recombinant EA.hy926 cell lines in which IFI6 was either over-expressed (IFI6+/+) or knocked-down (IFI6-/-) were generated. The activation of caspase-3 and intrinsic apoptosis-related protein caspase-9 were down-regulated in IFI6+/+ but up-regulated in IFI6-/- cells at 24-48 hrs post-infection. After incubation with DENV for 48 hrs, the mitochondrial membrane potential (Δψ(m)) was more stable in IFI6+/+ cells but reduced in IFI6-/- cells, as assayed by fluorescence staining with JC-1. We observed that Bcl-2 expression was increased in IFI6+/+ and decreased in IFI6-/- cells. By contrast, Bax expression was decreased in IFI6+/+ and increased in IFI6-/- cells. It is presumed that the anti-apoptotic function of IFI6 is expressed by regulating the rheostatic balance between bcl-2/bax expression and inhibition of Δψ(m) depolarization during DENV infection of vascular endothelial cells(VECs). In addition, the pro-apoptotic protein X-linked Inhibitor of Apoptosis (XIAP)-Associated Factor 1(XAF1) expression had been reported to be up-regulated and led to the induction of apoptosis in DENV2-infected VECs,but the relationship between XAF1 and IFI6 dengue virus-induced apoptosis in VECs warrants further study.
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- 2015
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26. Correction: IFI6 Inhibits Apoptosis via Mitochondrial-Dependent Pathway in Dengue Virus 2 Infected Vascular Endothelial Cells.
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Yiming Qi, Ying Li, Yingke Zhang, Lin Zhang, Zilian Wang, Xuzhi Zhang, Lian Gui, and Junqi Huang
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Medicine ,Science - Published
- 2015
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27. Fourier Spectral Physics Informed Neural Network: An Efficient and Low-Memory PINN.
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Tianchi Yu, Yiming Qi, Ivan Oseledets, and Shiyi Chen
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- 2024
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28. Ess-InfoGAIL: Semi-supervised Imitation Learning from Imbalanced Demonstrations.
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Huiqiao Fu, Kaiqiang Tang, Yuanyang Lu, Yiming Qi, Guizhou Deng, Flood Sung, and Chunlin Chen
- Published
- 2023
29. Relationship between thrombus vWF and NETs with clinical severity and peripheral blood immunocytes’ indicators in patients with acute ischemic stroke
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Lin, Shi, primary, Chunxiao, Wei, additional, Li, Sun, additional, Guimei, Zhang, additional, Yaru, Zhang, additional, Weijie, Zhai, additional, Yiming, Qi, additional, Ruolin, Zhou, additional, Lingjie, Meng, additional, and Yan, Zhang, additional
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- 2024
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30. Bidirectional Traction Technique to Resolve Mechanical Valve Leaflet Entrapment After Paravalvular Leak Closure
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Yiming Qi, Daxin Zhou, Wenzhi Pan, and Junbo Ge
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Cardiology and Cardiovascular Medicine - Published
- 2023
31. Discrete unified gas kinetic scheme for continuum compressible flows
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Zhaoli Guo, Lian-Ping Wang, and Yiming Qi
- Published
- 2023
32. Multidimensional frailty as a predictor of mortality among older adults: a systematic review and meta-analysis
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Wei Liu, Rixin Qin, Yiming Qiu, Taiyuan Luan, Borong Qiu, Ke Yan, Zhe Chen, Beibei Miao, and Yujin Liu
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Multidimensional frailty ,Mortality ,Older adults ,Systematic review ,Meta-analysis ,Geriatrics ,RC952-954.6 - Abstract
Abstract Objective This systematic review examined studies that assessed the relationship between mortality risk and multidimensional frailty. The pooled risk of mortality was estimated via a meta-analysis. Design A systematic review and meta-analysis. Methods A systematic search for potentially eligible literature was conducted on January 2, 2023, using five electronic databases: Web of Science, CINAHL, PubMed, the Cochrane Library and Embase. This review included cohort or longitudinal studies examining the association between multidimensional frailty/prefrailty and mortality in older adults. The quality of the included studies was evaluated via the Quality in Prognosis Studies (QUIPS) tool. Two independent researchers identified eligible studies and extracted the data. The data analyses were performed via STATA, version 15.0. Results A total of 24 studies with 34,664 participants were included. The 24 studies were published between 2012 and 2022, with most studies being performed in Italy (n = 16). The sample sizes of the included studies ranged from 71 to 12,020. Most included studies were conducted in hospital settings. The QUIPS bias assessment results showed that the most frequent source of potential bias was study confounding. The meta-analysis results showed that multidimensional frailty was a significant predictor of mortality (HR = 5.48, 95% CI = 3.91–7.67, p
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- 2024
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33. Causality between neuroticism personality clusters and female reproductive diseases in European population: a two-sample bidirectional mendelian randomization study
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Xinliang Kong, Fanhui Jin, Guodong Tang, Yiming Qin, Daoying Liu, and Jianyi Sun
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Neuroticism personality clusters ,Female reproductive diseases ,Mendelian randomization ,Causality ,Gynecology and obstetrics ,RG1-991 ,Public aspects of medicine ,RA1-1270 - Abstract
Abstract Background The causality between neuroticism, a personality trait characterized by the tendency to experience negative emotions, and female reproductive diseases remains unclear. To provide evidence for the development of effective screening and prevention strategies, this study employed Mendelian randomization (MR) to investigate the causality between neuroticism clusters and female reproductive diseases. Methods Instrumental variables were obtained from large-scale genome-wide association studies of populations of European descent involving three neuroticism clusters (depressed affect, worry, sensitivity to environmental stress, and adversity [SESA]) in the Complex Trait Genetics database and six female reproductive diseases (infertility, polycystic ovary syndrome [PCOS], spontaneous abortion, recurrent spontaneous abortion, endometriosis, and uterine fibroids) in the FinnGen database. The bidirectional two-sample MR analysis was conducted using the inverse variance-weighted, weighted median, and MR-Egger methods, whereas the sensitivity analysis was conducted using the Cochran’s Q-test, MR-Egger intercept, and leave-one-out analysis. Results In the forward analysis, genetically predicted depressed affect and worry components of neuroticism significantly increased the risk of infertility (depressed affect: odds ratio [OR] = 1.399, 95% confidence interval [CI]: 1.054–1.856, p = 0.020; worry: OR = 1.587, 95% CI: 1.229–2.049, p = 0.000) and endometriosis (depressed affect: OR = 1.611, 95% CI: 1.234–2.102, p = 0.000; worry: OR = 1.812, 95% CI: 1.405–2.338, p = 0.000). Genetically predicted SESA component of neuroticism increased only the risk of endometriosis (OR = 1.524, 95% CI: 1.104–2.103, p = 0.010). In the reverse analysis, genetically predicted PCOS was causally associated with an increased risk of the worry component of neuroticism (Beta = 0.009, 95% CI: 0.003–0.016, p = 0.003). Conclusions The MR study showed that the three neuroticism personality clusters had definite causal effects on at least one specific female reproductive disease. Moreover, PCOS may increase the risk of the worry component of neuroticism. This finding suggests the need to screen for specific female reproductive diseases in populations with high neuroticism and assess the psychological status of patients with PCOS.
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- 2024
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34. A case report on Madelung’s disease and comprehensive review of the literature
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Cheng Jiao, Wei Liu, Yiming Qiao, Shuai Qi, and Yifei Shen
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Benign symmetric lipomatosis ,Lipid metabolism ,Liposuction surgery ,Madelung’s disease ,Surgical treatment ,Medicine - Abstract
Abstract Background Madelung’s disease (MD), alternatively referred to as benign symmetric lipomatosis, multiple symmetric lipomatosis, or Launois–Bensaude syndrome, is an uncommon benign disorder marked by symmetric proliferation of adipose tissue in the head, neck, and torso regions. Case description In this case, the patient was a female with the late middle-aged demographic, diagnosed with Type I MD. Notably, she exhibited no prior history of alcohol consumption, and there was no family history of MD. Subsequent to the clinical diagnosis, the patient underwent medical imaging assessments to delineate the surgical parameters. Post-surgery, she demonstrated a favorable recovery trajectory, marked by the absence of any surgical complications. Result The patient underwent successful surgical excision of the lipomatous mass. Postoperatively, she had an uneventful recovery with no complications and no recurrence observed during the follow-up period of seven months. Conclusion Timely diagnosis and early surgical intervention play a pivotal role in enhancing the quality of life for individuals with MD. Preoperative medical imaging examinations function as highly effective tools, contributing to heightened surgical safety and a decreased probability of encountering complications during the surgical procedure.
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- 2024
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35. Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities
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Jiaqi Lu, Aihua Yin, Hongke Ding, and Yiming Qi
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Male ,Pediatrics ,medicine.medical_specialty ,Noninvasive Prenatal Testing ,Genetic counseling ,Myosin Type V ,Gestational Age ,Disease ,Compound heterozygosity ,Ultrasonography, Prenatal ,symbols.namesake ,Malabsorption Syndromes ,Mucolipidoses ,Exome Sequencing ,medicine ,Humans ,Genetics (clinical) ,Exome sequencing ,Sanger sequencing ,Fetus ,Microvilli ,Myosin Heavy Chains ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,medicine.disease ,Malnutrition ,Real-time polymerase chain reaction ,Mutation ,symbols ,Female ,business - Abstract
Backgrounds Microvillus inclusion disease (MVID) characterizes as intractable life-threatening watery diarrhea malnutrition after birth. MATERIALS & METHODS: Here we describe two patients with prenatal ultrasound findings of bowel dilation or increased amniotic fluid volume presented intractable diarrhea after birth. Exome sequencing and Intestinal biopsy were performed for the patients and their parents to reveal the underlying causes. The mutations were verified by Sanger sequencing and quantitative polymerase chain reaction. Results Exome sequencing revealed that both of the patients carrying MYO5B compound heterozygote mutations that were inherited from their parents. Conclusion Here we describe two cases with MVID caused by MYO5B deficiency, which was the most common caused with prenatal ultrasound findings of bowel dilation and increased amniotic fluid volume. Due to the lack of effective curative therapies, early diagnosis even in prenatal of MVID can provide parents with better genetic counseling on the fetal prognosis.
- Published
- 2021
36. High-Performance Organic Phototransistors Based on D18, a High-Mobility and Unipolar Polymer
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Songxue Bai, Jiali Peng, Huihuang Huang, Qianqian Lin, Yiming Qi, and Li Jiang
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chemistry.chemical_classification ,Materials science ,chemistry ,business.industry ,General Chemical Engineering ,Materials Chemistry ,Optoelectronics ,General Chemistry ,Polymer ,business - Published
- 2021
37. Based on Multi-agent Model for Grinding Process Control Research.
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Hongwei Zhao, Yiming Qi, Jiye Zhang, and Yuanheng Zhao
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- 2010
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38. Grinding Process Fuzzy Control System Design and Application Based on MATLAB.
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Xiaolin Zhang, Hongwei Zhao, Yiming Qi, and Li Wang
- Published
- 2008
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39. A transcatheter "sandwich" valve-in-valve implantation for pure aortic regurgitation: a report of 2 cases.
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Shasha Chen, Dawei Lin, Yiming Qi, Daxin Zhou, Wenzhi Pan, and Junbo Ge
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- 2023
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40. Improving rice grain yield and reducing lodging risk simultaneously: A meta-analysis
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Ping Liao, Stephen M. Bell, Le Chen, Shan Huang, Haiyuan Wang, Jiahui Miao, Yiming Qi, Yanni Sun, Bin Liao, Yongjun Zeng, Haiyan Wei, Hui Gao, Qigen Dai, Hongcheng Zhang, Jiangsu Key Laboratory of Crop Genetics and Physiology, Yangzhou University, Laboratoire des Sciences du Climat et de l'Environnement [Gif-sur-Yvette] (LSCE), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Modélisation des Surfaces et Interfaces Continentales (MOSAIC), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)
- Subjects
[SDU.OCEAN]Sciences of the Universe [physics]/Ocean, Atmosphere ,Soil Science ,Plant Science ,[SDU.ENVI]Sciences of the Universe [physics]/Continental interfaces, environment ,Agronomy and Crop Science - Abstract
International audience
- Published
- 2023
41. Effects of decabromodiphenyl ether (BDE-209) on ultrasonic vocalizations emitted by rat pups during isolation
- Author
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Yiming Qi
- Subjects
Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Cholinergic Agents ,Halogenated Diphenyl Ethers ,Animals ,Ultrasonics ,Vocalization, Animal ,Toxicology ,Flame Retardants ,Rats - Abstract
Polybrominated diphenyl ethers (PBDEs) have been worldwide used as flame retardants. Among them, decabromodiphenyl ether (BDE-209) is the most applied and becomes ubiquitous in the environment and organisms. It can alter spontaneous behavior and affect the cholinergic system in rodents. Ultrasonic vocalizations (USVs) emitted by rat pups during isolation are widely employed as neurobehavioral indexes, and the cholinergic system supports their normal expression. However, whether BDE-209 can alter isolation USVs were unknown. In this study, BDE-209 was daily administered to mothers at 0, 500, or 1000 mg/kg b.w. from gestational day (GD) 15 to postnatal day (PND) 21. On PNDs 7, 10, 13, and 16, rat pups were individually isolated from mothers, and their USVs were recorded for 5 min after 5-min habituation and then analyzed. The results indicated that BDE-209 exposure can cause acoustic alterations in isolation USVs. The high-dose pups emitted USVs with shorter duration than the control pups did. Moreover, the percentages of frequency-modulated (FM) USVs in the high-dose pups were lower than those in the control pups. The mechanisms to alter acoustic characteristics of isolation USVs need further investigation. USV analysis is a useful method that provides neurobehavioral evidence.
- Published
- 2022
42. Is cardiovascular risk profiling from UK Biobank retinal images using explicit deep learning estimates of traditional risk factors equivalent to actual risk measurements? A prospective cohort study design
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Kohji Nishida, Ryo Kawasaki, Yiming Qian, Liangzhi Li, Yuta Nakashima, and Hajime Nagahara
- Subjects
Medicine - Abstract
Objective Despite extensive exploration of potential biomarkers of cardiovascular diseases (CVDs) derived from retinal images, it remains unclear how retinal images contribute to CVD risk profiling and how the results can inform lifestyle modifications. Therefore, we aimed to determine the performance of cardiovascular risk prediction model from retinal images via explicitly estimating 10 traditional CVD risk factors and compared with the model based on actual risk measurements.Design A prospective cohort study design.Setting The UK Biobank (UKBB), a prospective cohort study, following the health conditions including CVD outcomes of adults recruited between 2006 and 2010.Participants A subset of data from the UKBB which contains 52 297 entries with retinal images and 5-year cumulative incidence of major adverse cardiovascular events (MACE) was used. Our dataset is split into 3:1:1 as training set (n=31 403), validation set (n=10 420) and testing set (n=10 474). We developed a deep learning (DL) model to predict 5-year MACE using a two-stage DL neural network.Primary and secondary outcome measures We computed accuracy, area under the receiver operating characteristic curve (AUC) and compared variations in the risk prediction models combining CVD risk factors and retinal images.Results The first-stage DL model demonstrated that the 10 CVD risk factors can be estimated from a given retinal image with an accuracy ranging between 65.2% and 89.8% (overall AUC of 0.738 with 95% CI: 0.710 to 0.766). In MACE prediction, our model outperformed the traditional score-based models, with 8.2% higher AUC than Systematic COronary Risk Evaluation (SCORE), 3.5% for SCORE 2 and 7.1% for the Framingham Risk Score (with p value
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- 2024
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43. Deep learning methods for protein structure prediction
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Yiming Qin, Zihan Chen, Ye Peng, Ying Xiao, Tian Zhong, and Xi Yu
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artificial intelligence ,deep learning ,neural networks ,protein structure prediction ,Medical technology ,R855-855.5 ,Computer applications to medicine. Medical informatics ,R858-859.7 - Abstract
Abstract Protein structure prediction (PSP) has been a prominent topic in bioinformatics and computational biology, aiming to predict protein function and structure from sequence data. The three‐dimensional conformation of proteins is pivotal for their intricate biological roles. With the advancement of computational capabilities and the adoption of deep learning (DL) technologies (especially Transformer network architectures), the PSP field has ushered in a brand‐new era of “neuralization.” Here, we focus on reviewing the evolution of PSP from traditional to modern deep learning‐based approaches and the characteristics of various structural prediction methods. This emphasizes the advantages of deep learning‐based hybrid prediction methods over traditional approaches. This study also provides a summary analysis of widely used bioinformatics databases and the latest structure prediction models. It discusses deep learning networks and algorithmic optimization for model training, validation, and evaluation. In addition, a summary discussion of the major advances in deep learning‐based protein structure prediction is presented. The update of AlphaFold 3 further extends the boundaries of prediction models, especially in protein‐small molecule structure prediction. This marks a key shift toward a holistic approach in biomolecular structure elucidation, aiming at solving almost all sequence‐to‐structure puzzles in various biological phenomena.
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- 2024
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44. Infrared Point Target Detection and Tracking Based on DSP.
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Hongwei Zhao, Xiaolin Zhao, and Yiming Qi
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- 2007
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45. Friction stir welding of Ti-6Al-4V alloy: Friction tool, microstructure, and mechanical properties
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Yiming Qi, Junping Li, Yifu Shen, and Wentao Hou
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Equiaxed crystals ,0209 industrial biotechnology ,Materials science ,Strategy and Management ,02 engineering and technology ,Welding ,Management Science and Operations Research ,021001 nanoscience & nanotechnology ,Microstructure ,Industrial and Manufacturing Engineering ,law.invention ,020901 industrial engineering & automation ,law ,Ultimate tensile strength ,Dynamic recrystallization ,Friction stir welding ,Lamellar structure ,Composite material ,0210 nano-technology ,Base metal - Abstract
In this work, 2 mm-thick Ti-6Al-4V plates were successfully friction stir welded using a newly designed friction tool, and the microstructure evolution and mechanical behaviors of weld were investigated. The process parameters of friction stir welding (FSW) were explored and defect-free welds were produced. The cross-sections of the weld showed typical "bowl" profiles, which can be divided into four regions: base metal (BM), shoulder-affected zone (SAZ), stir zone (SZ), and heat-affected zone (HAZ). The peak temperature in the SZ exceeded the β-phase transition temperature and the materials in the SZ underwent phase transformation during FSW. The final microstructure of the SZ was a lamellar structure with (α + β) phase and the HAZ has a bimodal microstructure consisting of equiaxed prior α and lamellar (α + β) grains. The maximum tensile strength and yield strength of the FSWed samples reached up to 92 % of the base metal and the tensile failures occurred at the SZ. The micro-hardness varied significantly along the thickness of the plate. While the micro-hardness value of SZ was lower than that of BM due to the grain coarsening and dynamic recrystallization during the welding. The tensile fracture morphologies exhibited a typical quasi-cleavage fracture.
- Published
- 2020
46. Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice
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Fei Mai, Fake Li, Ling Liu, Qi Zhang, Yunan Wang, Aihua Yin, Yuan Liu, Wang Xingwang, Yiming Qi, Chang Liu, Yanlin Huang, Yan Zhang, Lihua Yu, Anshi Wang, Li Du, Jing Wu, Yukun Zeng, and Hongke Ding
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medicine.medical_specialty ,business.industry ,Hearing loss ,Hearing Loss, Sensorineural ,High-Throughput Nucleotide Sequencing ,General Medicine ,Deafness ,DNA sequencing ,Pedigree ,Clinical Practice ,Cohort Studies ,Otorhinolaryngology ,Pediatrics, Perinatology and Child Health ,Mutation ,Exome Sequencing ,medicine ,Humans ,medicine.symptom ,Intensive care medicine ,business ,Genetic diagnosis ,Hearing Loss - Abstract
Background: Hearing loss (HL) is a prevalent sensorineural disorder, and is among the most etiologically heterogeneous disorders. With the advent of next-generation sequencing (NGS) technologies, hundreds of candidate genes can be analyzed simultaneously in a cost-effective manner. Methods: 94 patients from 87 families diagnosed with non-syndromic or syndromic hearing loss were enrolled. A custom-designed HL panel and clinical exome sequencing (CES) were applied to explore molecular etiology in the cohort, and the efficacy of the two panels was examined. Results: The etiologic diagnosis for hearing loss has been arrived at 40 out of 94 patients (42.6%), 28 with an autosomal recessive (AR) inheritance pattern and 12 with an autosomal dominant (AD) pattern. Candidate variants in 19 different genes were identified in the study cohort, 11 with AR inheritance pattern and 8 with AD pattern. 14 of the variants identified in the study were novel. Compared with CES, the custom-designed HL panel has comparatively higher diagnostic yield (61.5% vs. 29.1%), less expensive price, similar turn-around time, and can be used as an efficient diagnostic tool for hearing loss in the clinical practice. Conclusions: Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in the clinical practice.
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- 2021
47. An efficient discrete unified gas-kinetic scheme for compressible turbulence
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Yiming Qi, Tao Chen, Lian-Ping Wang, Zhaoli Guo, and Shiyi Chen
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Fluid Flow and Transfer Processes ,Mechanics of Materials ,Mechanical Engineering ,Computational Mechanics ,Condensed Matter Physics - Abstract
In this paper, we develop an efficient Boltzmann-equation-based mesoscopic approach to simulate three-dimensional (3D) compressible turbulence, using reduced Gauss–Hermite quadrature (GHQ) orders by redefining the second distribution in terms of the total energy in the double distribution function approach. This allows the use of two sets of 3D off-lattice discrete particle velocity models, namely, a 27 discrete velocity model of the seventh-order GHQ accuracy (D3V27A7) combined with a 13 discrete velocity model of the fifth-order GHQ accuracy (D3V13A5), to achieve full consistency with the Navier–Stokes–Fourier system. The source terms in the Boltzmann–Bhatnagar–Gross–Krook system are designed to adjust both the Prandtl number and bulk-to-shear viscosity ratio. Compressible decaying homogeneous isotropic turbulence (DHIT) is simulated at low and moderate turbulent Mach numbers to validate our code. It is observed that the simulation results are in good agreement with those in the existing literatures. Furthermore, the terms in the transport equation of turbulent kinetic energy are analyzed in detail, to illustrate four different transient stages from the initial random flow field to the developed DHIT. It is shown that the transient pressure-dilatation transfer happens rapidly, while the small-scale vortical structures take a longer time to establish physically. Compared to the existing literatures, our approach represents the most efficient mesoscopic scheme for compressible turbulence under the double distribution function formulation.
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- 2022
48. Development of Nomograms for Predicting Lymph Node Metastasis and Distant Metastasis in Newly Diagnosed T1-2 Non-Small Cell Lung Cancer: A Population-Based Analysis
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Jing Li, Wenjuan Yang, Lina Zhou, Shuangshuang Wu, Bo Zhang, Linghui Tao, Yiming Qi, and Yunfu Shi
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Oncology ,Cancer Research ,medicine.medical_specialty ,lymph node metastasis ,business.industry ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Retrospective cohort study ,Lymph node metastasis ,Nomogram ,medicine.disease ,Logistic regression ,SEER database ,nomogram ,distant metastasis ,Internal medicine ,Epidemiology ,medicine ,T1-2 non-small cell lung cancer ,Medical diagnosis ,Stage (cooking) ,Lung cancer ,business ,RC254-282 ,Original Research - Abstract
BackgroundFor different lymph node metastasis (LNM) and distant metastasis (DM), the diagnosis, treatment and prognosis of T1-2 non-small cell lung cancer (NSCLC) are different. It is essential to figure out the risk factors and establish prediction models related to LNM and DM.MethodsBased on the surveillance, epidemiology, and end results (SEER) database from 1973 to 2015, a total of 43,156 eligible T1-2 NSCLC patients were enrolled in the retrospective study. Logistic regression analysis was used to determine the risk factors of LNM and DM. Risk factors were applied to construct the nomograms of LNM and DM. The predictive nomograms were discriminated against and evaluated by Concordance index (C-index) and calibration plots, respectively. Decision curve analysis (DCAs) was accepted to measure the clinical application of the nomogram. Cumulative incidence function (CIF) was performed further to detect the prognostic role of LNM and DM in NSCLC-specific death (NCSD).ResultsEight factors (age at diagnosis, race, sex, histology, T-stage, marital status, tumor size, and grade) were significant in predicting LNM and nine factors (race, sex, histology, T-stage, N-stage, marital status, tumor size, grade, and laterality) were important in predicting DM(all, P< 0.05). The calibration curves displayed that the prediction nomograms were effective and discriminative, of which the C-index were 0.723 and 0.808. The DCAs and clinical impact curves exhibited that the prediction nomograms were clinically effective.ConclusionsThe newly constructed nomograms can objectively and accurately predict LNM and DM in patients suffering from T1-2 NSCLC, which may help clinicians make individual clinical decisions before clinical management.
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- 2021
49. Kdm6a-CNN1 axis orchestrates epigenetic control of trauma-induced spinal cord microvascular endothelial cell senescence to balance neuroinflammation for improved neurological repair
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Chengjun Li, Tian Qin, Jinyun Zhao, Yuxin Jin, Yiming Qin, Rundong He, Tianding Wu, Chunyue Duan, Liyuan Jiang, Feifei Yuan, Hongbin Lu, Yong Cao, and Jianzhong Hu
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Biology (General) ,QH301-705.5 ,Physiology ,QP1-981 - Abstract
Abstract Cellular senescence assumes pivotal roles in various diseases through the secretion of proinflammatory factors. Despite extensive investigations into vascular senescence associated with aging and degenerative diseases, the molecular mechanisms governing microvascular endothelial cell senescence induced by traumatic stress, particularly its involvement in senescence-induced inflammation, remain insufficiently elucidated. In this study, we present a comprehensive demonstration and characterization of microvascular endothelial cell senescence induced by spinal cord injury (SCI). Lysine demethylase 6A (Kdm6a), commonly known as UTX, emerges as a crucial regulator of cell senescence in injured spinal cord microvascular endothelial cells (SCMECs). Upregulation of UTX induces senescence in SCMECs, leading to an amplified release of proinflammatory factors, specifically the senescence-associated secretory phenotype (SASP) components, thereby modulating the inflammatory microenvironment. Conversely, the deletion of UTX in endothelial cells shields SCMECs against senescence, mitigates the release of proinflammatory SASP factors, and promotes neurological functional recovery after SCI. UTX forms an epigenetic regulatory axis by binding to calponin 1 (CNN1), orchestrating trauma-induced SCMECs senescence and SASP secretion, thereby influencing neuroinflammation and neurological functional repair. Furthermore, local delivery of a senolytic drug reduces senescent SCMECs and suppresses proinflammatory SASP secretion, reinstating a local regenerative microenvironment and enhancing functional repair after SCI. In conclusion, targeting the UTX-CNN1 epigenetic axis to prevent trauma-induced SCMECs senescence holds the potential to inhibit SASP secretion, alleviate neuroinflammation, and provide a novel treatment strategy for SCI repair.
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- 2024
- Full Text
- View/download PDF
50. Local delivery of EGFR+NSCs-derived exosomes promotes neural regeneration post spinal cord injury via miR-34a-5p/HDAC6 pathway
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Tian Qin, Chengjun Li, Yan Xu, Yiming Qin, Yuxin Jin, Rundong He, Zixiang Luo, Jinyun Zhao, Chunyue Duan, Hongbin Lu, Yong Cao, and Jianzhong Hu
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Spinal cord injury ,Exosomes ,Neural regeneration ,miR-34a-5p ,HDAC6 ,Materials of engineering and construction. Mechanics of materials ,TA401-492 ,Biology (General) ,QH301-705.5 - Abstract
Spinal cord injury (SCI) causes severe axon damage, usually leading to permanent paraparesis, which still lacks effective regenerative therapy. Recent studies have suggested that exosomes derived from neural stem cells (NSCs) may hold promise as attractive candidates for SCI treatment. Epidermal Growth Factor Receptor positive NSC (EGFR+NSC) is a subpopulation of endogenous NSCs, showing strong regenerative capability in central nervous system disease. In the current study, we isolated exosomes from the EGFR+NSCs (EGFR+NSCs-Exos) and discovered that local delivery of EGFR+NSCs-Exos can effectively promote neurite regrowth in the injury site of spinal cord-injured mice and improve their neurological function recovery. Using the miRNA-seq, we firstly characterized the microRNAs (miRNAs) cargo of EGFR+NSCs-Exos and identified miR-34a-5p which was highly enriched in EGFR+NSCs derived exosomes. We further interpreted that exosomal miR-34a-5p could be transferred to neurons and inhibit the HDAC6 expression by directly binding to its mRNA, contributing to microtubule stabilization and autophagy induction for aiding SCI repair. Overall, our research demonstrated a novel therapeutic approach to improving neurological functional recovery by using exosomes secreted from a subpopulation of endogenous NSCs and providing a precise cell-free treatment strategy for SCI repair.
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- 2024
- Full Text
- View/download PDF
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