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      • KCI등재

        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.

      • Factors Predicting Nurse Intent and Status Regarding Pap Smear Examination in Taiwan: a Cross-sectional Survey

        Chen, Shu-Ling,Tsai, Shu-Fang,Hsieh, Mei-Mei,Lee, Lin-Lin,Tzeng, Ya-Ling Asian Pacific Journal of Cancer Prevention 2016 Asian Pacific journal of cancer prevention Vol.17 No.1

        Background: Nurses are the most visible, frontline personnel providing health education to patients. In particular, nurse experience with Pap examinations have the potential to influence women's attitudes toward screening for cervical cancer. However, nurses in Taiwan have lower rates of Pap testing than the general population. Understanding the factors predicting nurse intent to have a Pap exam and Pap exam status would inform interventions and policies to increase their Pap exam uptake. Therefore, the present study was undertaken. Materials and Methods: Data were collected by questionnaire from a convenient sample of 504 nurses at a regional hospital in central Taiwan between August and October 2011 and analyzed by descriptive statistics, confirmatory factor analysis, and logistic regression. Results: Nurse intention to have a Pap exam was predicted by younger age, less negative attitudes toward Pap exams, and greater influence of others recommendations. However, nurses were more likely to actually have had a Pap exam if they were older, married, had sexual experience, and had a high intention to have a Pap exam. Conclusions: Nurses who are younger than 34 years old, unmarried, sexually inexperienced, and with low intention to have a Pap exam should be targeted with interventions to educate them not only about the importance of Pap exams in detecting cervical cancer, but also about strategies to decrease pain and embarrassment during exams. Nurses with less negative attitudes and experiences related to Pap exams would serve as role models to persuade women to have Pap exams, thus increasing the uptake rate of Pap exams in Taiwan.

      • SCIESCOPUSKCI등재
      • KCI등재

        Patients’ Perceptions and Expectations of Family Participation in the Informed Consent Process of Elective Surgery in Taiwan

        Mei-Ling Lin,Wai-Ming Kan,Ching-Huey Chen 한국간호과학회 2012 Asian Nursing Research Vol.6 No.2

        Purpose: This study investigated patients’ perceptions and expectations of their families’ participation in the informed consent process of elective surgery. Methods: This is a survey study. Anonymous questionnaires that were mailed to potential participants included a demographic data sheet and a scale, measuring patients’ perceptions of themselves and their families’ participation level in the informed consent process. A convenience sample of patients who had undergone surgery and had been discharged within 4 months from a medical center in southern Taiwan (n ¼ 1,737) were recruited. Results: One hundred and forty-five recipients replied, gaining a response rate of 10.0%, and 120 provided complete data. The mean age of the participants was 56.0 years (range 20e85, SD ¼ 14.98), and more than half were female (54.2%). Twenty-one participants (17.5%) perceived having less family participation than their own participation in the surgery informed consent process, and 40% expected more family participation in the process. The mean scores of the self-rated participation level was significantly higher than that of the families (p < .001). Patients' expectations of family participation were significantly higher than their perceptions of family participation (p < .001). Eleven patients (9.2%) reported having more family participation than they expected. Participants received the most information about the disease during the informed consent process and the least information about alternatives to surgery. Age,gender, number of previous surgeries and admissions influenced the study participants' perceived level of participation in the informed consent process. Conclusion: This preliminary study demonstrates that patients’ perceptions and expectations for family participation in the surgical informed consent process vary. Healthcare providers should be aware of patients’ expectation to appropriately invite their family into the informed consent process. Purpose: This study investigated patients’ perceptions and expectations of their families’ participation in the informed consent process of elective surgery. Methods: This is a survey study. Anonymous questionnaires that were mailed to potential participants included a demographic data sheet and a scale, measuring patients’ perceptions of themselves and their families’ participation level in the informed consent process. A convenience sample of patients who had undergone surgery and had been discharged within 4 months from a medical center in southern Taiwan (n ¼ 1,737) were recruited. Results: One hundred and forty-five recipients replied, gaining a response rate of 10.0%, and 120 provided complete data. The mean age of the participants was 56.0 years (range 20e85, SD ¼ 14.98), and more than half were female (54.2%). Twenty-one participants (17.5%) perceived having less family participation than their own participation in the surgery informed consent process, and 40% expected more family participation in the process. The mean scores of the self-rated participation level was significantly higher than that of the families (p < .001). Patients' expectations of family participation were significantly higher than their perceptions of family participation (p < .001). Eleven patients (9.2%) reported having more family participation than they expected. Participants received the most information about the disease during the informed consent process and the least information about alternatives to surgery. Age,gender, number of previous surgeries and admissions influenced the study participants' perceived level of participation in the informed consent process. Conclusion: This preliminary study demonstrates that patients’ perceptions and expectations for family participation in the surgical informed consent process vary. Healthcare providers should be aware of patients’ expectation to appropriately invite their family into the informed consent process.

      • Clinical Study of Thalidomide Combined with Dexamethasone for the Treatment of Elderly Patients with Newly Diagnosed Multiple Myeloma

        Chen, Hai-Fei,Li, Zheng-Yang,Tang, Jie-Qing,Shen, Hong-Shi,Cui, Qing-Ya,Ren, Yong-Ya,Qin, Long-Mei,Jin, Ling-Juan,Zhu, Jing-Jing,Wang, Jing,Ding, Jie,Wang, Ke-Yuan,Yu, Zi-Qiang,Wang, Zhao-Yue,Wu, Tian Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.9

        Objective: To investigate the relationship between the efficacy and safety of different doses of thalidomide (Thal) plus dexamethasone (Dex) as the initial therapy in elderly patients with newly diagnosed multiple myeloma (MM). Methods: Clinical data of 28 elderly patients with newly diagnosed MM who underwent the TD regimen as the initial therapy were analyzed retrospectively. The patients were divided into two groups according to the maximal sustained dose of Thal: lower dose (group A) and higher dose (group B). The overall response rate (ORR), progression free survival (PFS), overall survival (OS), and adverse events (AES) were compared between the two groups. Results: A total of 28 patients were followed up with a median of 18 months. The ORR was 60.1%. The median response time and PFS were 2.0 and 17.0 months, respectively. The mean sustained dose of Thal in group B was significantly higher than group A (292.9 mg v 180.4 mg, P=0.01). There was no significantly difference in ORR (57.1% v 64.3%, P=1.00) and PFS (9.63months v 17.66 months, P=0.73) between groups A and B. During the follow up, only five patients died (<40%) and, therefore, median OS values were not available. It is estimated, however, that the mean survival time in the two groups was 35.6 and 33.4 months (P>0.05), respectively. All of the patients tolerated the treatment well. The incidence of AES in patients with a grading above 3 in group B was significantly higher than in group A (P=0.033). Conclusions: The TD regimen results in a high response rate and manageable AES as the initial therapy in elderly patients with MM. TD should be considered as the front line regimen for the treatment of elderly patients with MM in areas with financial constraints. The clinical response can be achieved at a low dose Thal with minimal toxicity.

      • KCI등재

        Cytological, genetic, and proteomic analysis of a sesame (Sesamum indicum L.) mutant Siyl‑1 with yellow–green leaf color

        Tong‑Mei Gao,Shuang‑Ling Wei,Jing Chen,Yin Wu,Feng Li,Li‑Bin Wei,Chun Li,Yan‑Juan Zeng,Yuan Tian,Dong‑Yong Wang,Hai‑Yang Zhang 한국유전학회 2020 Genes & Genomics Vol.42 No.1

        Background Both photosynthetic pigments and chloroplasts in plant leaf cells play an important role in deciding on the photosynthetic capacity and efficiency in plants. Systematical investigating the regulatory mechanism of chloroplast development and chlorophyll (Chl) content variation is necessary for clarifying the photosynthesis mechanism for crops. Objective This study aims to explore the critical regulatory mechanism of leaf color mutation in a yellow–green leaf sesame mutant Siyl-1. Methods We performed the genetic analysis of the yellow-green leaf color mutation using the F2 population of the mutant Siyl-1. We compared the morphological structure of the chloroplasts, chlorophyll content of the three genotypes of the mutant F2 progeny. We performed the two-dimensional gel electrophoresis (2-DE) and compared the protein expression variation between the mutant progeny and the wild type. Results Genetic analysis indicated that there were 3 phenotypes of the F2 population of the mutant Siyl-1, i.e., YY type with light-yellow leaf color (lethal); Yy type with yellow-green leaf color, and yy type with normal green leaf color. The yellowgreen mutation was controlled by an incompletely dominant nuclear gene, Siyl-1. Compared with the wild genotype, the chloroplast number and the morphological structure in YY and Yy mutant lines varied evidently. The chlorophyll content also significantly decreased (P < 0.05). The 2-DE comparison showed that there were 98 differentially expressed proteins (DEPs) among YY, Yy, and yy lines. All the 98 DEPs were classified into 5 functional groups. Of which 82.7% DEPs proteins belonged to the photosynthesis and energy metabolism group. Conclusion The results revealed the genetic character of yellow-green leaf color mutant Siyl-1. 98 DEPs were found in YY and Yy mutant compared with the wild genotype. The regulation pathway related with the yellow leaf trait mutation in sesame was analyzed for the first time. The findings supplied the basic theoretical and gene basis for leaf color and chloroplast development mechanism in sesame.

      • SCIESCOPUSKCI등재

        Cloning, Expression, and Characterization of Endoglucanase Gene egIV from Trichoderma viride AS 3.3711

        ( Huang Xiao Mei ),( Jin Xia Fan ),( Qian Yang ),( Xiu Ling Chen ),( Zhi Hua Liu ),( Yun Wang ),( Da Qing Wang ) 한국미생물 · 생명공학회 2012 Journal of microbiology and biotechnology Vol.22 No.3

        Endoglucanase gene egIV was cloned from Trichoderma viride AS 3.3711, an important cellulose-producing fungus, by using an RT-PCR protocol. The egIV cDNA is 1,297 bp in length and contains a 1,035 bp open reading frame encoding a 344 amino acid protein with an estimated molecular mass of 35.5 kDa and isoelectronic point (pI) of 5.29. The expression of gene egIV in T. viride AS 3.3711 could be induced by sucrose, corn straw, carboxymethylcellulose (CMC), or microcrystalline cellulose, but especially by CMC. The transcripts of egIV were regulated under these substrates, but the expression level of the egIV gene could be inhibited by glucose and fructose. Three recombinant vectors, pYES2-xegIV, pYES2Mα-egIV, and pYES2Mα-xegIV, were constructed to express the egIV gene in Saccharomyces cerevisiae H158. The CMCase activity of yeast transformants IpYES2Mα-xegIV was higher than that of transformant IpYES2-xegIV or IpYES2Mα-egIV, with the highest activity of 0.13 U/ml at induction for 48 h, illustrating that the modified egIV gene could enhance CMCase activity and that MFα signal peptide from S. cerevisiae could regulate exogenous gene expression more effectively in S. cerevisiae. The recombinant EGIV enzyme was stable at pH 3.5 to 7.5 and temperature of 35oC to 65oC. The optimal reaction condition for EGIV enzyme activity was at the temperature of 55oC, pH of 5.0, 0.75 mM Ba2+, and using CMC as substrate. Under these conditions, the highest activity of EGIV enzyme in transformant IpYES2Mα-xegIV was 0.18 U/ml. These properties would provide technical parameters for utilizing cellulose in industrial bioethanol production.

      • SCIESCOPUS

        Bending ratcheting behavior of pressurized straight Z2CND18.12N stainless steel pipe

        Wang, Lei,Chen, Gang,Zhu, Jianbei,Sun, Xiuhu,Mei, Yunhui,Ling, Xiang,Chen, Xu Techno-Press 2014 Structural Engineering and Mechanics, An Int'l Jou Vol.52 No.6

        The ratcheting effect greatly challenges the design of piping components. With the assistance of the quasi-three point bending apparatus, ratcheting and the ratcheting boundary of pressurized straight Z2CND18.12N stainless steel pipe under bending loading and vertical displacement control were studied experimentally. The characteristics of progressive inelastic deformation in axial and hoop directions of the Z2CND18.12N stainless steel pipes were investigated. The experiment results show that the ratcheting strain occurs mainly in the hoop direction while there is less ratcheting strain in the axial direction. The characteristics of the bending ratcheting behavior of the pressure pipes were derived and compared under load control and displacement control, respectively. The results show that the cyclic bending loading and the internal pressure affect the ratcheting behavior of the pressurized straight pipe significantly under load control. In the meantime, the ratcheting characteristics are also highly associated with the cyclic displacement and the internal pressure under displacement control. All these factors affect not only the saturation of the ratcheting strain but the ratcheting strain rate. A series of multi-step bending ratcheting experiments were conducted under both control modes. It was found that the hardening effect of Z2CND18.12N stainless steel pipe under previous cyclic loadings no matter with high or low displacement amplitudes is significant, and the prior loading histories greatly retard the ratcheting strain and its rate under subsequent loadings. Finally, the ratcheting boundaries of the pressurized straight Z2CND18.12N stainless steel pipe were determined and compared based on KTA/ASME, RCC-MR and the experimental results.

      • KCI등재

        Development and Validation of Clinical Nursing Teacher Self-Efficacy Scale and Investigation of Self-Efficacy among Clinical Nursing Teachers

        Wu Pei-Ling,Tseng Ying-Chen,Chen Li-Chiu,Tseng Shao-Mei,Pai Hsiang-Chu 한국간호과학회 2022 Asian Nursing Research Vol.16 No.3

        Purpose: The purpose of this study was to (1) add relevant contemporary items to develop an assessment instrument for the self-efficacy of clinical nursing teachers, to verify and evaluate the validity and reliability of the instrument, and (2) investigate the self-efficacy of clinical nursing teachers. Method: A cross-sectional study was designed. A total of 205 clinical nursing teachers were recruited in Taiwan. Data were collected using the Clinical Nursing Teacher Self-efficacy Scale. An exploratory factor analysis was performed to examine the scale. Results: The degree of self-efficacy of clinical nursing teachers was moderate to high. The 35-item scale showed great psychometric qualities. The Cronbach coefficient of the overall scale was 0.92; and 0.83, 0.91, 0.93, and 0.87 on the four subscales were acceptable. Four factors were extracted by exploratory factor analysis and explained 68.53% of the total variance. Four factors were (i) teachers' professional growth ability, (ii) teaching ability, (iii) clinical nursing competencies, and (iv) personality traits. The highest self-efficacy category evaluated by teachers was personality traits; the second was clinical nursing competencies; after that, teaching ability and teachers’ professional growth ability. The item with the lowest self-efficacy was foreign language ability (English). Conclusion: Clinical nursing teachers have a moderate to high degree of self-efficacy. This scale with good reliability and validity can be used for the training and evaluation of the self-efficacy of clinical nursing teachers.

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