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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.
Mei-Chen Lo,Jia-Yin Chen,Yung-Ting Kuo,Wei-Lu Chen,Horng-Mo Lee,Shyang-Guang Wang 대한약학회 2019 Archives of Pharmacal Research Vol.42 No.8
Caloric restriction activates sirtuin 1 (SIRT1)and induces a variety of metabolic effects that are beneficialfor preventing age-related disease. The present studyscreened a commercially available used drug library todevelop small molecule activators of SIRT1 as therapeuticsfor treatment of metabolic disorders. Using an in vitrofluorescence assay, the cancer therapeutic camptothecinincreased SIRT1 enzymatic activity by 5.5-fold, indicatingit to be a potent SIRT1 activator. Camptothecin also elevatedthe nicotinamide adenine dinucleotide (NAD)?/NADH ratio and increased SIRT1 protein levels in differentiatedC2C12 myogenic cells. Treatment of C2C12 myotubeswith camptothecin increased phosphorylation ofAMP-dependent kinase (AMPK) and acetyl-coenzyme Acarboxylase, caused nuclear translocation and deacetylationof forkhead box O1 (FoxO1), increased transcriptionand protein expression of adipose triglyceride lipase(ATGL), decreased the amount of intracellular oil droplets,and significantly increased b-oxidation of fatty acids. These in vitro data were confirmed in vivo as camptothecintreatment of C57BL/6J mice reduced fat and plasmatriglyceride levels. All of the above camptothecin-inducedalterations were attenuated by the SIRT1-specific inhibitornicotinamide and/or 6-[4-(2-piperidin-1-ylethoxy) phenyl]-3-pyridin-4-ylpyrazolo [1,5-a]pyrimidin (compound C). Thus, camptothecin activation of SIRT1 promotes lipidcatabolism through AMPK/FoxO1/ATGL signaling.
Feng, Chen-Chen,Chen, Li-Na,Chen, Mei-Jun,Li, Wan,Jia, Xu,Zhou, Yan-Yan,He, Wei-Ming Asian Pacific Journal of Cancer Prevention 2014 Asian Pacific journal of cancer prevention Vol.15 No.8
Human mammary epithelial cells have different proliferative statuses and demonstrate a close relationship with age and cell proliferation. Research on this topic could help understand the occurrence, progression and prognosis of breast cancer. In this article, using significance analysis of a microarray algorithm, we analyzed gene expression profiles of human mammary epithelial cells of different proliferative statuses and different age groups. The results showed there were significant differences in gene expression in the same proliferation status between elderly and young groups. Three common differentially expressed genes were found to dynamically change with the proliferation status and to be closely related to tumorigenesis. We also found elderly group had less status-related differential genes from actively proliferating status to intermediate status and more statusrelated differential genes from intermediate status than the young group. Finally, functional enrichment analyses allowed evaluation of the detailed roles of these differentially-expressed genes in tumor progression.
( Chen Chen ),( Ming Zhong Sun ),( Shu Qing Liu ),( Dong Mei Yeh ),( Li Jun Yu ),( Yang Song ),( Lin Lin Gong ),( Li Hong Hao ),( Jun Hu ),( Shu Juan Shao ) 생화학분자생물학회 (구 한국생화학분자생물학회) 2010 BMB Reports Vol.43 No.8
Smad4 is involved in cancer progression and metastasis. Using a pair of human syngeneic epithelial ovarian cancer cells with low (HO-8910) and high (HO-8910PM) metastatic abilities, we aimed to reveal the role of Smad4 in ovarian cancer metastasis in vitro. Smad4 was down-regulated in HO-8910PM cell line relative to HO-8910 by implicating Smad4 was probably a potential tumor suppressor gene for ovarian cancer. Re-expression of Smad4 decreased the migration ability and inhibited the invasion capacity of HO-8910PM, while promoted the cell adhesion capacity for HO-8910PM. The stable expression of Smad4 increased the expression of E-cadherin, reduced the expression of plasminogen activator inhibitor-1 (PAI-1) and slightly down-regulated the expression of VEGF. Smad4 suppresses human ovarian cancer cell metastasis potential through its effect on the expressions of PAI-1, E-cadherin and VEGF. Results from current work implicate Smad4 might suppress the invasion and metastasis of human ovarian tumor cells through a TGF-β/Smad-mediated pathway. [BMB reports 2010; 43(8): 554-560]
Mei-Chen Lin,Ching-Wen Lou,Jan-Yi Lin,Ting An Lin,Shih-Peng Wen,Jia-Horng Lin 한국섬유공학회 2019 Fibers and polymers Vol.20 No.2
This study combines and twists 75D polyester (PET) multi-filaments and polylactic acid (PLA) multi-filaments with twist coefficients of 2, 3, 4, 5, and 6 to form 150D PET/PLA plied yarns. The 0.08-mm-diameter stainless steel (SS) fibers are made into SS braids with a 60-tooth braid gear and a take-up gear with 60, 70, 80, 90, or 100 teeth. PET/PLA plied yarn and SS braids are then combined and electrochemically treated with an electric current of 100, 200, 300, 400, or 500 mA at 60 ℃ for 24 hours, forming the PET/PLA/SS composite bone scaffolds. PET/PLA/SS composite bone scaffolds are observed by scanning electron microscope (SEM) and energy dispersive spectroscope (EDS), and tested for weight increase rate and biocompatibility. The experiment results show that the optimal twist coefficient for PET/PLA plied yarn is 4 and the optimal tooth number on the take-up gear for SS braids is 80. SEM observation result shows that hydroxyapatite (HA) deposits on the surface of PET/PLA/SS composite bone scaffolds and attaches to the PET/PLA plied yarns. Finally, regardless of electric currents, all PET/PLA/SS composite bone scaffolds possess good biocompatibility.
Chen, Jianbo,Li, Meijia,Chen, Lixue,Wang, Yufang,Li, Shanshan,Zhang, Yuwei,Zhang, Lei,Song, Mingjie,Liu, Chang,Hua, Mei,Sun, Yinshi The Korean Society of Ginseng 2018 Journal of Ginseng Research Vol.42 No.1
Background: The use of different methods for the processing of ginseng can result in alterations in its medicinal properties and efficacy. White ginseng (WG), frozen ginseng (FG), and red ginseng (RG) are produced using different methods. WG, FG, and RG possess different pharmacological properties. Methods: WG, FG, and RG extracts and pure ginsenosides were administered to rats to study the pharmacokinetics and tissue distribution characteristics of the following ginsenosides-DRg1, Re, Rb1, and Rd. The concentrations of the ginsenosides in the plasma and tissues were determined using UPLC-MS/MS. Results: The rate and extent of absorption of Rg1, Re, Rb1, and Rd appeared to be affected by the different methods used in processing the ginseng samples. The areas under the plasma drug concentration-time curves (AUCs) of Rg1, Re, Rb1, and Rd were significantly higher than those of the pure ginsenosides. In addition, the AUCs of Rg1, Re, Rb1, and Rd were different for WG, FG, and RG. The amounts of Rg1, Re, Rd, and Rb1 were significantly (p < 0.05) higher in the tissues than those of the pure ginsenosides. The amounts of Re, Rb1, and Rd from the RG extract were significantly higher than those from the WG and FG extracts in the heart, lungs, and kidneys of the rats. Conclusion: Our results show that the use of different methods to process ginseng might affect the pharmacokinetics and oral bioavailability of ginseng as well as the tissue concentrations of Rg1, Re, Rd, and Rb1.
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.
Mei-Man Chen,Bi-Hua Cheng 한국간호과학회 2020 Asian Nursing Research Vol.14 No.4
Purpose: This study sought to understand Taiwanese women’s decisional experiences regarding prenatalscreening procedures and diagnostics. Methods: A hermeneutic phenomenological design guided semistructured interviews with 33 womenwho were 36 weeks pregnant. Data were collected between February and October 2016. Verbatimtranscripts were analyzed following hermeneutic circle to cocreate an understanding of Taiwanesewomen’s decision-making in prenatal screening and diagnostics. Results: Women’s existential experiences were derived from their decision-making process on prenatalscreening procedures and diagnostics for chromosomal aneuploidy. These decisional experiences werecaptured by four theme clusters and eight themes, which were inductively derived from 16 meaningunits: (1) accessing health information; (2) considering what was best for my baby; (3) consideringfamily finance; and (4) feeling anxiety posttest. Conclusion: Participants made informed choices on several prenatal screening procedures, ostensibly,based on their personal values and considerations. During the decision-making process, often-citedbenefits of genetic screenings were emphasized, but test limitations were often unheeded. A fundamentalneed for supportive information in decision making was further identified with recommendedstrategies. Hence, a revision of traditional genetic counseling approaches is recommended. As genomicstechnologies are increasingly available during antenatal services, women should be sufficiently educatedabout them to support decision making.