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.

이광수의 '무정'과 장한수의 '제소인연' 비교연구

장춘매(Zhang, Chun-Mei) 한국문학회 2010 韓國文學論叢 Vol.56 No.-

20세기 초에 유가사상에 젖어 있었던 중한 양국은 서구문화의 영향으로 근대화로 진입하기 시작했다. 중한 양국 근대과도기의 연애와 혼인에 관한 인식을 밝히기 위해 본고는 한국 작가 이광수의 <무정>과 중국 작가 장한수의 <제소인연>을 비교했다. 두 작품은 모두 당대 사람들에게 익숙하지 않은 자유연애 이야기를 서술하고 있다. 본고는 이 두 작품을 주제, 인물, 서사법 등 여러 측면에서 비교하여 그 공통점과 차이점을 찾아낼 뿐만 아니라 작가 이광수와 장한수가 자유연애에 대해 주장하는 관점도 규명했다. 그리고 주제와 문체의 차원에서 두 작품이 전통문학을 계승하면서 개혁해 나아가는 측면도 고찰하였다. As the twentieth century began, both Korea and China featured with the traditional Confucianism started towards modern societies thanks to the influence of western culture. To expound the general viewpoints of the two countries on marriage at the transitional time, the paper is intended to make a comparative study of two works--Mu Jeong by Korean writer Lee Kwang-soo and Ti xiao yin yuan by Chinese writer Zhang Hen-shui. The two works both tell stories about people’s freedom to choose their spouses--a new concept unfamiliar to peoples at that time in both countries. The paper is designed to seek out the differences and similarities between the two novels from the aspects of themes, characterizations, and narrative methods and is an attempt to make a study of the propositions of both Lee Kwang-soo and Zhang Hen-shui on the freedom to choose one's spouse. Besides, the paper is also an effort to study what the two writers inherit from their respective traditional literatures and what is invented by the two.

Soy Protein Supplementation Reduces Clinical Indices in Type 2 Diabetes and Metabolic Syndrome

Xi-Mei Zhang,Yun-Bo Zhang,Mei-Hua Chi 연세대학교의과대학 2016 Yonsei medical journal Vol.57 No.3

Purpose: Clinical trials have studied the use of soy protein for treating type 2 diabetes (T2D) and metabolic syndrome (MS). The purpose of this study was to outline evidence on the effects of soy protein supplementation on clinical indices in T2D and MS subjects by performing a meta-analysis of randomized controlled trials (RCTs). Materials and Methods: We searched PubMed, EMBASE, and Cochrane databases up to March 2015 for RCTs. Pooled estimates and 95% confidence intervals (CIs) were calculated by the fixed-and-random-effects model. A total of eleven studies with eleven clinical variables met the inclusion criteria. Results: The meta-analysis showed that fasting plasma glucose (FPG) [weighted mean difference (WMD), -0.207; 95% CI, -0.374 to -0.040; p=0.015], fasting serum insulin (FSI) (WMD, -0.292; 95% CI, -0.496 to -0.088; p=0.005), homeostasis model of assessmentfor insulin resistance index (HOMA-IR) (WMD, -0.346; 95% CI, -0.570 to -0.123; p=0.002), diastolic blood pressure (DBP) (WMD, -0.230; 95% CI, -0.441 to -0.019; p=0.033), low-density lipoprotein cholesterol (LDL-C) (WMD, -0.304; 95% CI, -0.461 to -0.148; p=0.000), total cholesterol (TC) (WMD, -0.386; 95% CI, -0.548 to -0.225; p=0.000), and C-reactive protein (CRP) (WMD, -0.510; 95% CI, -0.722 to -0.299; p=0.000) are significant reduced with soy protein supplementation, compared with a placebo control group, in T2D and MS patients. Furthermore, soy protein supplementation for longer duration (≥6 mo) significantly reducedFPG, LDL-C, and CRP, while that for a shorter duration (<6 mo) significantly reduced FSI and HOMA-IR. Conclusion: Soy protein supplementation could be beneficial for FPG, FSI, HOMA-IR, DBP, LDL-C, TC, and CRP control in plasma.

Different genomic DNA methylation patterns between male and female adults of white-backed planthoppers Sogatella furcifera

Mei Zhang,Jia-Lin Chen,Xiao-Sui Zhou,Shi-Ke Liang,Guang-Hong Li,Fang-Hai Wang 한국응용곤충학회 2014 Journal of Asia-Pacific Entomology Vol.17 No.4

DNAmethylation plays a key role in gene regulation and phenotype variation in many organisms. The aimof thisstudy was to survey the frequency and variation of cytosine methylation at CCGG sequences in adult male andfemale planthoppers Sogatella furcifera, a major rice pest in Asia, and to determine the occurrence ofmethylationchanges associatedwith sexual dimorphismusingmethylation-sensitive amplification polymorphism. 1131DNAfragments including CCGG siteswere amplified using 36 pairs of selective primers: about 191methylated bandswere identified. Inmale planthoppers,we got a total of 581 bands, including 40 fully-methylated bands, 65 hemimethylatedbands and 476 none-methylated bands, so the fully-methylated ratio, hemi-methylated ratio andtotal methylated ratio were 6.88%, 11.19% and 18.07%, respectively. In the female planthopper, there were atotal of 550 bands, including 44 fully-methylated bands, 42 hemi-methylated bands and 464 none-methylatedbands. The fully-methylated ratio was 7.64% in female planthoppers, which was slightly higher than in themale planthoppers, however, the hemi-methylated ratio was lower (8.00%) in the female compared with themale planthopper. Altogether, 46 DNA bands displayed variable cytosine methylation patterns between maleand female samples: 20 of themoccurred only inmale samples and 26 only in female samples. Thus, the genomemethylation patterns are different between male and female adults. The results suggest that DNA methylationmight be related to sexual differentiation and development in S. furcifera.

Identification of Polymorphisms in Thymic Stromal Lymphopoietin (TSLP) Gene and Their Association with Allergic Rhinitis

Mei Hua Zhang,Yong Shin Kim,Eun Heui Jin,Ki Mo Kim,Jae Hoon Lee,Chun Shi Li,Qing Gao Zhang,Ki Jung Yun,Soo Cheon Chae,Hun Taeg Chung 한국유전학회 2008 Genes & Genomics Vol.30 No.5

Dendritic cell (DC) activator, thymic stromal lymphopoietin (TSLP) induces DCs to produce Th2-attracting chemokines, causing differentiation of CD4+ and CD8+ T cells into effector cells. The differentiated cells are characterized by a typical pro-allergic phenotype. In this study, we identified four single nucleotide polymorphisms (SNPs) and one variation site (g.-305delT) from the results of scanned human TSLP gene. The SNPs are as following: g.-1914A>G and g.-847C>T in promoter, g.-82C>T in 5` UTR and g.1117C>T in intron 2. We also evaluated the association of genotype and allele frequencies of these SNPs between non-allergic rhinitis controls and allergic rhinitis patients. We further investigated possible correlations between each genotype with serum total IgE levels and peripheral blood eosinophil counts in allergic rhinitis patients. The frequencies of haplotype constructed by these SNPs between these two groups were also compared. Our results demonstrate the two SNPs (g.-1914A>G and g.-847C>T) were associated with susceptibility of allergic rhinitis (P=0.006 and P=0.015 respectively), however, serum total IgE levels were not significantly related with the SNPs.

Treatment Efficacy and Prognostic Factors for Huge HCC Based on Barcelona Clinic Liver Cancer Staging

Zhang, Zhi-Ming,Zhang, Yu-Mei,Gao, Sheng,Yuan, Wei-Ping,Zhao, Yin-Nong,Xiang, Bang-De,Wu, Fei-Xiang,Wu, Guo-Bin,Liu, Jian-Yong Asian Pacific Journal of Cancer Prevention 2014 Asian Pacific journal of cancer prevention Vol.15 No.20

Objective: To explore the most appropriate treatment for patients with hepatocellular cancer (HCC) >10 cm by using the Barcelona Clinic Liver Cancer (BCLC) classification. Materials and Methods: A total of 124 HCC patients undergoing surgery were selected. Disease-free survival (DFS), overall survival (OS) and prognostic factors were respectively assessed. Results: This study showed that the cumulative 1-, 3-, 5-year survival rates were 79.7%, 59.8% and 41.6% in BCLC-A patients, 76.2%, 9.5% and 0% in BCLC-B patients and 44.9%, 0% and 0% in BCLC-C patients, respectively. The 1-, 3-, 5-year DFS rates were 49%, 24.5% and 9.1% in BCLC-A patients, 7.5%, 0% and 0% in BCLC-B patients, respectively. No BCLC-C patients survived 1 year after surgery. Multivariate analysis indicated that hepatitis B surface antigen (HBsAg), vascular invasion, intra-hepatic metastasis, curative resection, tumor rupture and pathologic differentiation were independent prognostic factors. Conclusions: Surgery is effective and safe for patients with HCC >10 cm with sufficient hepatic reserve.

Segmentation for Range Image Based on Snake Active Contour Model

Zhang Mei,Wen Jing Hua,Peng Xing Xing 보안공학연구지원센터 2016 International Journal of Signal Processing, Image Vol.9 No.8

Range image segmentation is one of the most common problem in the field of computer vision. In view of the defect about traditional range image segmentation methods, this paper introduces a new range image segmentation method based on snake active contour model (SCAM). First, this paper expresses the snake active contour model in the form of parameters, and illustrates the contour line data points inside and outside of the movement and pseudo code description of the motion of a point algorithm; then constructs energy function, pushing the Euler equation and discretization; finally gets the results by Cholesky decomposition. Numerical experiment results show that the method is accurate and efficient, of good effect and the segmentation results are consistent with human subjective visual perception.

Surface modified cellulose nanocrystals for tailoring interfacial miscibility and microphase separation of polymer nanocomposites

Zhang, Jinlong,Li, Mei-Chun,Zhang, Xiuqiang,Ren, Suxia,Dong, Lili,Lee, Sunyoung,Cheng, H. N.,Lei, Tingzhou,Wu, Qinglin Springer-Verlag 2019 CELLULOSE Vol.26 No.7

Accurate Registration of Point Clouds Based on ADF and ICS

Zhang Mei,Xu Bin,Chen Wang 보안공학연구지원센터 2015 International Journal of Signal Processing, Image Vol.8 No.12

The registration of point cloud is a key problem for model acquisition and 3D reconstruction, it was Put forward that a kind of automatic registration method from multi-views depth image to complete geometric models. First, According to the invariant characteristics of the relative position of the space points in the condition of rigid body transformation, the effective initial matching points array was construct with curvature invariant features and ZNCC, and the coordinate transformation of the matching feature points was solved based on the Unit quaternion, thus the data coarse registration was completed; Then by using fine matching technology based on adaptive distance function and the improved iterative closest surface, the different perspectives of clouds were optimally matched in 3D space; Finally registration error was calculated according to the matching results, and the registration accuracy and speed were analyzed. The results show that, the method can effectively improve the efficiency of registration in the guarantee of the accuracy of registration.

Diversity and composition of microbiota during fermentation of traditional Nuodeng ham

Zhang Xiao-mei,Dang Xi-jun,Wang Yuan-bing,Sun Tao,Wang Yao,Yu Hong,Yang Wu-song 한국미생물학회 2021 The journal of microbiology Vol.59 No.1

The microbial community is one of the most important factors in shaping the characteristics of fermented food. Nuodeng ham, traditionally produced and subjected to 1–4 years of fermentation, is a dry fermented food product with cultural and economic significance to locals in southwestern China. In this study, we aimed to characterize the microbiota and physicochemical profiles of Nuodeng ham across different stages of fermentation. Ham samples from each of the four years were analyzed by sequencing bacterial 16S rRNA gene and fungal internal transcribed spacer sequence, in order to characterize the diversity and composition of their microflora. A total of 2,679,483 bacterial and 2,983,234 fungal sequences of high quality were obtained and assigned to 514 and 57 genera, respectively. Among these microbes, Staphylococcus and Candida were the most abundant genera observed in the ham samples, though samples from different years showed differences in their microbial abundance. Results of physicochemical properties (pH, water, amino acid, NaCl, nitrate and nitrite contents, and the composition of volatile compounds) revealed differences among the ham samples in the composition of volatile compounds, especially in the third year samples, in which no nitrite was detected. These results suggest that the structure and diversity of microbial communities significantly differed across different stages of fermentation. Moreover, the third year hams exhibits a unique and balanced microbial community, which might contribute to the special flavor in the green and safe food products. Thus, our study lends insights into the production of high quality Nuodeng ham.