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.

Classifcation of atrial fbrillation and normal sinus rhythm based on convolutional neural network

Mei-Ling Huang,Yan-Sheng Wu 대한의용생체공학회 2020 Biomedical Engineering Letters (BMEL) Vol.10 No.2

Electrocardiogram (ECG) technology plays a vital role in detecting arrhythmia. Numerous achievements have been marked in ECG-related research. Most methods frst pre-process ECG signals, then extract features, and fnally classify them. Most of the ECG signals used in the related studies were analyzed in specifc time intervals or using a fxed number of samples. However, it is not always possible to see signifcant changes in a short term, and the symptoms of some patients are relatively short-lived. Misjudgments are possible because the ECG signal was not accurately extracted. This study proposes a computeraided diagnosis (CAD) system for classifcation of Atrial Fibrillation and Normal Sinus Rhythm based on ECG signals through convolutional neural network. The proposed system considers a single heartbeat, rather than a specifc number of seconds. This study eschews the one-dimensional digital ECG signal used in previous studies and uses convolutional neural networks to analyze two-dimensional ECG image. This study explores whether two-dimensional image ECG requires signal fltering. The fnal classifcation results in fltered ECG signals is accuracy of 99.23%, sensitivity of 99.71%, and specifcity of 98.66%. The best result in non-fltered ECG signals achieves accuracy of 99.18%, sensitivity of 99.31%, and specifcity of 99.03%. With no cumbersome artifcial settings, the results of this study are comparable to the related studies. The proposed CAD system has high generalizability; it can help doctors to diagnose diseases efectively and reduce misdiagnosis.

Undisclosed Desire and Hidden Anxiety: A Rereading of the Gender Relations in E. M. Forster`s Howards End

( Mei Ling Chao ) 한국영미문학페미니즘학회 2012 영미문학페미니즘 Vol.20 No.3

In Howards End (1910), E. M. Forster carries out a highly nuanced exploration of gender relations to highlight the conflicting ideas of liberalism and materialism of the upper-middle classes in England in the years before World War I. Such readings are predicated on classical gender opposition. However, clear-cut gender division seems unsettling and hence somewhat crude because the reader is repeatedly baffled by the novel`s out-of-character gender performances, which not only defy but transcend established gender expectations. In Howards End, all major characters seem to be overshadowed by some kind of performative failure in their inability to fully realize gender roles as well as to adequately fulfill gender expectations. This paper aims to verify through textual evidence whether or not performative failure actually manifests hidden anxieties concealed behind a novel written immediately preceding Forster`s final confirmation of his own sexual identity. It also attempts to show how the anxieties have been disguised, transformed, or overlaid in more public statements about conventional issues of courtship and marriage in the novel. In other words, Howards End may prove to be only deceptively conventional and a key to unfolding Foster`s secret desire.

The effects of life and death education on the meaning of life, attitude on terminating life support, and Personality

Mei Ling Song 한국간호과학회 2021 한국간호과학회 학술대회 Vol.2021 No.10

Purpose: Life and Death education is an education that helps people to understand life and death correctly, values the present life, and allows them to live more meaningfully. The purpose of this study is to investigate the effect of life and death education on meaning of life, perception of death, attitude on terminating life support, and personality of nursing school students. Methods: The subjects of this study were college of nursing students, who was taking life and death classes at first year of college. The contents of classes were prepared referenced by the thanatology, and well-dying education. The education was consisted of 13 weeks and the contents were consisted with history of death education, the different definitions of death, the death problems of elderly, hospice care, life-sustaining treatment decision related act, death-related legal issue, the funeral culture, and bereavement management of family, meaning of life, and happiness and so on. For investigating the effect of the education, we investigated the meaning of life, attitude of death, perception of death, perception of hospice, attitude on terminating life support, concept of good death, and personality. The data were collected at two times that were at the beginning of the education, and after the education. For analyzing the results, we did pared-test analysis, using SPSS 18.0 program. Results: Total 142 students answered the questionnaires. After taking the life and death education, the meaning of life, perception of death, perception of hospice, attitude on terminating life support, concept of good death, and personality have been significantly changed. Conclusion: According to the results, life and death education can help the nursing students to build positive perception of death, meaning of life, and personality, thus life and death class is a necessary and important class for nursing school students.

Intake of Korean Red Ginseng Extract and Saponin Enhances the Protection Conferred by Vaccination with Inactivated Infl uenza A Virus

Mei Ling Xu,Hyoung Jin Kim,Yoo Ri Choi,Hong-Jin Kim 고려인삼학회 2012 Journal of Ginseng Research Vol.36 No.4

Vaccination is the main strategy for preventing infl uenza infection. However, vaccine effi cacy is infl uenced by several factors, including age and health status. The effi cacy of the infl uenza vaccine is much lower (17% to 53%) in individuals over 65 yr of age compared with young adults (70% to 90%). Therefore, increasing vaccine effi cacy remains a challenge for the infl uenza vaccine fi eld. In this study, we investigated the impact of supplementing vaccination with the dietary intake of Korean red ginseng (RG) extract and RG saponin. Mice were immunized two times intranasally with inactivated infl uenza A (H1N1) virus. Mice received RG extract or RG saponin orally for 14 d prior to the primary immunization. After the primary immunization, mice continued to receive RG extract or RG saponin until the secondary immunization. Mice vaccinated in combination with dietary intake of RG extract and RG saponin showed elevated serum anti-infl uenza A virus IgG titers and improved survival rates in lethal infl uenza A virus infection: 56% and 63% of mice receiving RG extract or RG saponin survived, respectively, while 38% of mice that only received the vaccine survived. Moreover, mice receiving RG extract supplementation recovered their body weight more quickly than those not receiving RG extract supplementation. We propose that the dietary intake of RG extract and RG saponin enhances the vaccine-induced immune response and aids in providing protection against infl uenza virus infection.

Pattern of lip retraction according to the presence of lip incompetence in patients with Class II malocclusion

Mei Ling Fang,Sung-Hwan Choi,Yoon Jeong Choi,Kee-Joon Lee 대한치과교정학회 2023 대한치과교정학회지 Vol.53 No.4

THE THIRD-PERSON EFFECT IN THE CONTEXT OF PERSONAL BROADCASTING CONTENTS’ HARMFUL EFFECTS AND REGULATIONS

Mei-ling Zheng 한국엔터테인먼트산업학회 2018 한국엔터테인먼트산업학회 학술대회 논문집 Vol.2018 No.7

This study explored the third-person effect with respect to harmful contents of personal internet broadcasting including profanities, violence and suggestive content. The summary and discussion of its findings are as follows. A questionnaire survey was conducted to verify third-person effect in the context of personal internet broadcasting and its hazards. Results of the study revealed viewers" biased perception toward others in regard to the harmful effects of personal internet broadcasting and partially confirmed the presence of third-person effect in connection with social distance. Self-esteem had influence on the regulating attitude toward profanities and suggestive content. Study results revealed that perceived effects of personal internet broadcasting on oneself may influence viewers" support of regulations. And also reveald that the magnitude of perceptive bias was less in adults when compared to college students, who have less social distance between one another.

The Effect of Dietary Intake of the Acidic Protein Fraction of Bovine Colostrum on Influenza A (H1N1) Virus Infection

Mei Ling Xu,김형진,장돈용,김홍진 한국미생물학회 2013 The journal of microbiology Vol.51 No.3

Acidic protein levels in the milk decrease markedly as lactation progresses, suggesting that it is an important part of the colostrum. However, little attention has been paid to their biological function. In this study, we isolated the acidic protein fraction of bovine colostrum (AFC, isoelectric point <5) by anion-exchange chromatography, and investigated the effect of its dietary intake on influenza A (H1N1) virus infection. 100% of mice infected with 1 LD50 of the virus survived when administered AFC for 14 days prior to infection, compared with 33% survival when administered phosphate buffered saline (PBS). Moreover, consumption of AFC reduced the weight loss associated with infection. We propose that dietary intake of AFC has a prophylactic effect on influenza A virus infection.

The effect of dietary bovine colostrum on respiratory syncytial virus infection and immune responses following the infection in the mouse

Mei Ling Xu,김형진,Ga Ram Wi,김홍진 한국미생물학회 2015 The journal of microbiology Vol.53 No.9

Human respiratory syncytial virus (hRSV) is the most common cause of respiratory tract infection among young children because of immature T cell immunity of them against hRSV. CD8 T cells play a pivotal role in clearing hRSV and preventing subsequent infection. We examined the effects of dietary bovine colostrum on virus infection and CD8 T cell responses following hRSV infection in the mouse model. Mice received bovine colostrum for 14 days prior to hRSV challenge, and lung indexes (severity of symptom) and lung virus titers were analyzed. In addition, the activation of CD8 T cells in the bronchoalveolar lavage fluids (BALFs) of mice receiving bovine colostrum were compared with those in the BALFs of mice receiving phosphate-buffered saline (PBS) or ribavirin, post virus challenge. The severity of infection and lung virus titers were reduced in the mice receiving bovine colostrum, compared to those receiving PBS. Moreover CD8 T cell responses were selectively enhanced in the former. Our results suggest that dietary bovine colostrum exerts the effects to inhibit hRSV and ameliorate the symptom by hRSV infection, and enhances the CD8 T cell response during the hRSV infection.

Poster Session : PS 0377 ; Infectious Disease ; Multi-Year Vancomycin Course is Feasible in the Outpatient Parenteral Antimicrobial Therapy (OPAT) Clinic

( Mei Ling Kang ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1

Vancomycin remains the mainstay of treatment for methicillin-resistant Staphylococcus aureus (MRSA) infections despite reports of decreasing effi cacy and advent of newer agents. Prolonged use of vancomycin is limited by intravenous (iv) formulation and concerns of toxicities. We describe 4 patients who, intolerant of alternative treatments, received 2 to 7 years of vancomycin in OPAT clinic with successful suppression of MRSA prosthetic infections. Case 1: Sixty-nine year-old man with infected spinal implant tolerated 29 months of vancomycin without renal, neurological or bone marrow toxicity, till removal of the implant. He suffered one episode of line-related bacteraemia 8th month into treatment and was successfully treated with line-change and antibiotics. Case 2: Seventy-one year old male with chronic osteomyelitis. He received 2 years of vancomycin via a peripherally inserted central catheter (PICC); and suffered renal impairment and PICC-related bacteraemia. He recovered following treatment with no long-term sequelae. Case 3: Seventy-one year-old woman with prosthetic hip infection was suppressed with 28 months of vancomycin. She did not experience neurological or haematological toxicities but had 2 episodes of PICC infections. One was mild; the other resulted in klebsiella bacteraemia and renal impairment. Both were successfully treated. Case 4: Sixty-seven year-old man with MRSA aortic graft infection received a 7-year course of Vancomycin in OPAT clinic. He developed permanent but mild renal impairment and thrombocytopenia. He also had PICC-related complications: chronic venous thrombosis requiring angioplasty and anticoagulation therapy 1 ½ years into treatment; and 2 episodes of line sepsis 7th year of vancomycin. His infection was successfully treated in hospital but he died of a myocardial infarction. Prolonged courses of vancomycin can be given in OPAT clinic with acceptable complications. Renal impairment is mostly mild and reversible. Line infections are common but treatable.