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Anhai Chen,Chufeng He,Yong Feng,Jie Ling,Xin Peng,Xianlin Liu,Shuang Mao,Yongjia Chen,Mengyao Qin,Shuai Zhang,Yijiang Bai,Jian Song,Zhili Feng,Lu Ma,Dinghua He,Lingyun Mei1 대한이비인후과학회 2023 Clinical and Experimental Otorhinolaryngology Vol.16 No.4
Objectives. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However,few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenicfactors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in thesepatients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the ge-netic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing. Methods. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individualswithin the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis andclassified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing wasverified through a minigene assay. The predicted three-dimensional protein structure and biochemical experimentswere used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was fol-lowed up at 1 month and 6 months postoperatively to monitor auditory improvement. Results. A novel heterozygous EYA1 splicing variant (c.1050+4 A >C) was identified and classified as pathogenic (PVS1(RNA),PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation mayimpair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellularmislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improvedhearing loss caused by bone-conduction abnormalities in the proband. Conclusion. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molec-ular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgeryprovides a reference for auditory rehabilitation in similar patients.
Neural correlates of the popular music phenomenon: evidence from functional MRI and PET imaging
Chen, Qiaozhen,Zhang, Ying,Hou, Haifeng,Du, Fenglei,Wu, Shuang,Chen, Lin,Shen, Yehua,Chao, Fangfang,Chung, June-key,Zhang, Hong,Tian, Mei Springer-Verlag 2017 European journal of nuclear medicine and molecular Vol.44 No.6
<P>Popular music Gangnam Style can arouse pleasure experience and strong emotional response. The left putamen is positively correlated with the mood arousal level score under the Gangnam Style condition. Our results revealed characteristic patterns of brain activity associated with Gangnam Style, and may also provide more general insights into the music-induced emotional processing.</P>
A Novel Electrochemical Biosensor Based on Graphene and Cu Nanowires Hybrid Nanocomposites
Mei Chen,CHANGJUN HOU,DANQUN HUO,Liang Dong,Mei Yang,Huanbao Fa 성균관대학교(자연과학캠퍼스) 성균나노과학기술원 2016 NANO Vol.11 No.11
In this research, a new electrochemical sensor based on hybrid nanocomposite consisting of copper nanowires (CuNWs) and graphene (GR) were developed for the detection of organophosphorus pesticides (OPs). The surface morphology of the hybrid nanocomposite were studied by scanning electron microscope (SEM). The electrochemical behavior of the hybrid nanocomposites based sensor and its application for pesticides determination were evaluated by cyclic voltammetry (CV) and square wave voltammetry (SWV). Under optimized operational conditions, SWV was further employed for methyl parathion detection, which shows a wide dynamic range from 0.2 µM to 5 µM, a high sensitivity (69.2 · cm2 · µM-1) and the detection limit as low as 50 nM. It also had specific detection to the methyl parathion residues and had good reproducibility and stability. These results implicated the potential applicability of CuNWs/GNs-Chit hybrid nanocomposites in sensitive and selective detection of organophosphorus pesticides.
Scalar Dyon Production In Near Extremal Kerr-Newman Black Holes
Chen, Chiang-Mei,Kim, Sang Pyo,Sun, Jia-Rui,Tang, Fu-Yi,Gwak, B.,Kang, G.,Kim, C.,Kim, H.-C.,Lee, C.-H.,Lee, J.,Lee, S.,Lee, W. EDP Sciences 2018 The European Physical Journal Conferences Vol.168 No.-
<P>The pair production of charged scalar dyons is analytically studied in near-extremal Kerr-Newman (KN) dyonic black holes. The pair production rate and its thermal interpretation are given. Moreover, the absorption cross section ratio has been compared with the two-point function of the conformal field theories (CFTs) holographically dual to the near horizon geometry, namely warped AdS3, of the near extremal Kerr-Newman black holes to verify the threefold dyonic KN/CFTs correspondence.</P>
Altered Auditory P300 Performance in Parents with Attention Deficit Hyperactivity Disorder Offspring
Mei Hung Chi,Ching-Lin Chu,I Hui Lee,Yi-Ting Hsieh,Ko Chin Chen,Po See Chen,Yen Kuang Yang 대한정신약물학회 2019 CLINICAL PSYCHOPHARMACOLOGY AND NEUROSCIENCE Vol.17 No.4
Objective: Altered event-related potential (ERP) performances have been noted in attention deficit hyperactivity disorder (ADHD) patients and reflect neurocognitive dysfunction. Whether these ERP alterations and correlated dysfunctions exist in healthy parents with ADHD offspring is worth exploring. Methods: Thirteen healthy parents with ADHD offspring and thirteen healthy controls matched for age, sex and years of education were recruited. The auditory oddball paradigm was used to evaluate the P300 wave complex of the ERP, and the Wechsler Adult Intelligence Scale-Revised, Wisconsin Card Sorting Test, and continuous performance test were used to measure neurocognitive performance. Results: Healthy parents with ADHD offspring had significantly longer auditory P300 latency at Fz than control group. However, no significant differences were found in cognitive performance. Conclusion: The presence of a subtle alteration in electro-neurophysiological activity without explicit neurocognitive dysfunction suggests potential candidate of biological marker for parents with ADHD offspring.