A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application

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.

Polypropylene/Carbon Fiber Composite Layered Materials: Electromagnetic Interference Shielding Effect and Mechanical Performance

Mei-Feng Lai,Chen-Hung Huang,Jia-Horng Lin,Yu-Chun Chuang,Ching-Hua Wang,Ching-Wen Lou 한국섬유공학회 2021 Fibers and polymers Vol.22 No.9

In this study, conductive polymer composites and conductive functional fabrics are combined to serve aselectromagnetic shielding planks. Polypropylene (PP), carbon black (CB), and short carbon fibers (SCF) are blended atdifferent ratios to form conductive polymer composites (i.e. PCS series). The mechanical property, electrical property,morphology, and electromagnetic interference shielding effectiveness (EMI SE) of the PCS series are evaluated. The testresults show that with 20 wt% of conductive fillers (i.e. CB and SCF), PCS20 exhibits the optimal tensile strength, flexuralstrength, and electrical property that is 7 order of magnitude higher than that of pure PP plates. Moreover, the EMI SE of thisgroup also reaches -30 dB, which meets level one of civil EMI SE standard. Therefore, PCS20 is used to combine with fourconductive sandwiches. The resulting multilayered functional PCS-sandwich planks are tested in terms of mechanicalproperty, morphology, and EMI SE. The test results show that the planks composed of a pure conductive woven sandwichhave the maximum tensile property and significantly improved impact resistance. All of the multilayered functional plankshave EMI SE that is higher than -50 dB and are qualified for the protection level of standard EMI SE electronic devices.

Magnetization Processes in Permalloy Rings with Different Arrangements of Notches

Mei-Feng Lai,Chiun-Peng Lee,Hao-Ting Huang,Tzong-Rong Ger,Zung-Hang Wei 한국자기학회 2010 한국자기학회 학술연구발표회 논문개요집 Vol.2010 No.12

Different Magnetization Processes Caused by Two Vortex Helicities of Onion States in Permalloy Rings

Mei-Feng Lai 한국자기학회 2008 한국자기학회 학술연구발표회 논문개요집 Vol.- No.-

Research on the Direction of Economic Development in Shandong

Feng mei Yang 한국유통과학회 2017 한국유통과학회 학술대회 논문집 Vol.2017 No.-

Shandong province and South Korea have close economic relationship. South Korea is the first major importer of goods and the second largest foreign direct investment in Shandong Province. Shandong province is the main trading area and tourist destination of South Korea. So the economic development of Shandong Province is of great importance on the foreign trade and economic development to both. This paper studies the present situation of the industry of Shandong province and compares it with several developed provinces in China, to find the characteristics and the future direction of the economic development of Shandong, which will provide a reference for future trade between South Korea and Shandong province.

ABS algorithms for diophantine linear equationsand integer LP problems

Mei-Feng Zou,Zun-Quan Xia 한국전산응용수학회 2005 Journal of applied mathematics & informatics Vol.17 No.1-2

Abstract. Based on the recently developed ABS algorithm for solving linear Diophantine equations, we present a special ABS algorithm for solving such equations which is effective in computation and storage, not requiring the computation of the greatest common divisor. A class of equations always solvable in integers is identified. Using this result, we discuss the ILP problem with upper and lower bounds on the variables.

Multi-walled Carbon Nanotubes/Polypropylene-based Coating Layer on the Composite Metal Filaments: Characteristic Evaluations and Radiation-shielded Fabric

Mei-Feng Lai,Chen-Hung Huang,Ching-Wen Lou,Yu-Chun Chuang,Cyun-Yu Wei,Jia-Horng Lin 한국섬유공학회 2022 Fibers and polymers Vol.23 No.3

In this study, polypropylene (PP) and multi-walled carbon nanotubes (MWCNTs) are used to coat stainless steel(SS) wrapped yarns, the product of which is then fabricated into conductive textiles. Afterwards, the tensile properties,surface resistivity, and electromagnetic shielding effectiveness (EMSE) of conductive textiles are evaluated, therebydetermining the influences of the MWCNTs content. The test results show that using MWCNT can effectively improve themechanical properties of the coated yarns and conductive woven fabrics. In addition, 5 wt % of MWCNT provides the wovenfabrics with a lower surface resistivity and higher EMSE. The influences of the lamination angle and number of laminationlayers on EMSE are investigated, and the maximum EMSE of -49.89 dB occurs when the lamination angle is 0 °/90 °/0 °.

Effectiveness of Virtual Reality Interactive Play for Children During Intravenous Placement: A Randomized Controlled Trial

Hsu Mei-Feng,Whu Yew-Wha,Lin I-Chen,Liu Chieh-Yu,Lai Fei-Chen,Liu Pei-Ching,Chen Chi-Wen 한국간호과학회 2022 Asian Nursing Research Vol.16 No.2

Purpose This study aimed to evaluate the effectiveness of an interactive virtual reality (VR) play intervention including instructional play and emotional catharsis play sessions in reducing children's pain and fear during intravenous placement. Methods A randomized controlled trial with parallel groups was conducted. The sample consisted of 134 hospitalized children aged 6–12 years (intervention group: n = 69; comparison group: n = 65). The intervention involved one immersive intravenous scene in VR before the actual intravenous placement and one emotional catharsis VR play after injection. The comparison group received an educational photo book about intravenous placement before receiving intravenous placement. The children and their caregivers rated their pain and fear by using the Wong–Baker FACES Pain Rating Scale and the Children's Fear Scale. The time required for successful intravenous insertion was also compared between the two groups. Results Children's pain (p = .028) and fear scores (p = .004) were significantly lower in the intervention group than in the comparison group. Their caregivers' pain and fear scores (both p < .001) were significantly lower in the intervention group. The time required for successful intravenous insertion did not differ significantly between the intervention and comparison groups. Conclusions The interactive play intervention with VR effectively reduced children's levels of pain and fear during the intravenous placement procedure. The results of this study can serve as a reference for the implementation of a feasible, child-friendly care practice for clinical intravenous placement in school-aged children.

Role of active and passive smoking in high-risk human papillomavirus infection and cervical intraepithelial neoplasia grade 2 or worse

Rui-Mei Feng,Shang-Ying Hu,Fang-Hui Zhao,Rong Zhang,Xun Zhang,Asya Izraelit Wallach,You-Lin Qiao 대한부인종양학회 2017 Journal of Gynecologic Oncology Vol.28 No.5

Objective: We performed a pooled analysis to examine cigarette smoking and householdpassive smoke exposure in relation to the risk of human papillomavirus (HPV) infection andcervical intraepithelial neoplasia grade 2+ (CIN2+). Methods: Data were pooled from 12 cross-sectional studies for cervical cancer screeningsfrom 10 provinces of China in 1999–2007. A total of 16,422 women were analyzed, alongwith 2,392 high-risk-HPV (hr-HPV) positive women and 381 CIN2+ cases. Pooled odds ratios(ORs) and 95% confidence intervals (CIs) were estimated using logistic regression modelscontrolling for sexual and non-sexual confounding factors. Results: There was an excess risk between active smoking and hr-HPV infection and CIN2+. Adjusted OR for ever smokers vs. never smokers was 1.45 (95% CI=1.10–1.91), for hr-HPVinfection and 1.89 (95% CI=1.03–3.44), for CIN2+. Passive smoking had a slightly increasedrisk on the hr-HPV infection with adjusted OR 1.11 (1.00–1.24), but no statistical associationwas observed between passive smoke exposure and CIN2+. Compared with the neither activenor passive smokers, both active and passive smokers had a 1.57-fold (95% CI=1.14–2.15)increased risk of HPV infection and a 1.99-fold (95% CI=1.02–3.88) risk of CIN2+. Conclusion: Our large multi-center cross-sectional study found active smoking couldincrease the risk of overall hr-HPV infection and CIN2+ adjusted by passive smoking andother factors. Passive smoking mildly increased the risk of HPV infection but not the CIN2+. An interaction existed between passive tobacco exposure and active smoking for hr-HPVinfection and the CIN2+.

중국법 하에서 신용장거래의 준거법 결정에 관한 고찰

박미봉(Mei feng Piao),곡지(Zhi Qu),한재필(Jae phil Hahn) 한국국제상학회 2014 國際商學 Vol.29 No.4

2004년 이후 중국은 한국의 최대 교역상대국으로 자리매김하였다. 한중 양국간의 무역규모의 증가는 필연적으로 분쟁가능성의 증가로 이어지게 되는데 신용장과 관련한 분쟁도 증가되는 분쟁 중 하나로서 예외가 아니다. 중국은 과거의 사회주의 계획경제 체제로부터 현재의 시장경제체제로 전환하였기 때문에 섭외민사ㆍ상사사건 관련 규정들은 대부분 계획경제 체제하에서 입법된 것이거나 계획경제에서 시장경제로 전환하는 단계에 입법된 것이다. 당시 입법된 법률들은 계획경제 체제의 특징이 그대로 남아 있어 사법실무는 과거 계획 경제 체제의 사고방식으로부터 크게 벗어나지 못하고 있는 실정이다. 이러한 중국 사회체제의 특이성은 법체제에도 그대로 영향을 미쳐 신용장관련 법체계뿐만 아니라 사법실무에도 문제점들이 존재하지만 이런 문제점과 차이점에 대한 연구는 활발하지 않다. 이에 본 논문은 중국 신용장 준거법 결정에 관한 법원(法源)과 실제 준거법 결정 판례들을 분석, 시사점을 제공하여 중국과의 신용장거래에 대한 법적 안정성을 도모하는 것이 본고의 목적이다. Purpose : The purpose of this article is to provide practical implications for international traders and bankers in utilizing a letter of credit in international commercial contracts with Chinese partners, by providing in-depth analysis on Chinese courts' way of determining the governing law on the letter of credit under the Chinese Private International Law. Research design, data, methodology : This paper takes literature research as the research methodology. It analyzes relevant academic articles, Chinese laws and Chinese court cases to evaluate the Chinese courts' decision in determining the governing law on the letter of credit. Results : It is found that the determination of the governing law for the contract between the issuing bank and the beneficiary in the letter of credit under Chinese law is different from other countries' decision, as the law of the beneficiary, rather than the issuing bank, is determined as the governing law. Conclusions : Although the Chinese Private International Law adopts "the closest connection theory" to determine the governing law, the fact that the different decision, comparing the EU and South Korea which utilize the same approach, is made by the Chinese court calls for the attention.