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Hearing Disorders: HELP
Articles by Yingshi Guo
Based on 4 articles published since 2010
(Why 4 articles?)
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Between 2010 and 2020, Ying Guo wrote the following 4 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. 2018

Jia, Ying / Li, Xiaoge / Yang, Dong / Xu, Yi / Guo, Ying / Li, Xin. ·Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin, China. · Department of Pediatrics, Tianjin Jinnan Small Station Hospital, Tianjin, China. · Department of Otorhinolaryngology, Tianjin Medical University General Hospital, Tianjin, China. Electronic address: yangdong_dr@163.com. · Department of Otorhinolaryngology, Tianjin Medical University General Hospital, Tianjin, China. · Department of Otorhinolaryngology, Beijing Tsinghua Changgung Hospital, Beijing, China; School of Clinical Medicine, Tsinghua University, Beijing, China. ·Int J Pediatr Otorhinolaryngol · Pubmed #29287864.

ABSTRACT: The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c.5994G>A) located near the boundary of exon could cause aberrant splicing. This study provides a meaningful exploration for identification of clinical core genetic pedigrees.

2 Article A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs. 2016

Chen, Lei / Guo, Weiwei / Ren, Lili / Yang, Mingyao / Zhao, Yaofeng / Guo, Zongyi / Yi, Haijin / Li, Mingzhou / Hu, Yiqing / Long, Xi / Sun, Boyuan / Li, Jinxiu / Zhai, Suoqiang / Zhang, Tinghuan / Tian, Shilin / Meng, Qingyong / Yu, Ning / Zhu, Dan / Tang, Guoqing / Tang, Qianzi / Ren, Liming / Liu, Ke / Zhang, Shihua / Che, Tiandong / Yu, Zhengquan / Wu, Nan / Jing, Lan / Zhang, Ran / Cong, Tao / Chen, Siqing / Zhao, Yiqiang / Zhang, Yue / Bai, Xiaoqing / Guo, Ying / Zhao, Lidong / Zhang, Fengming / Zhao, Hui / Zhang, Liang / Hou, Zhaohui / Zhao, Jiugang / Li, Jianan / Zhang, Lijuan / Sun, Wei / Zou, Xiangang / Wang, Tao / Ge, Liangpeng / Liu, Zuohua / Hu, Xiaoxiang / Wang, Jingyong / Yang, Shiming / Li, Ning. ·State Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China. · Key Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China. · Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. · Institute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China. · Department of Communicative Disorders and Sciences, Center for Hearing and Deafness, State University of New York at Buffalo, Buffalo, New York, USA. · Key Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China. kingyou@vip.sina.com. · Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. yangsm301@263.net. · State Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China. ninglcau@cau.edu.cn. ·BMC Biol · Pubmed #27349893.

ABSTRACT: BACKGROUND: Genesis of novel gene regulatory modules is largely responsible for morphological and functional evolution. De novo generation of novel cis-regulatory elements (CREs) is much rarer than genomic events that alter existing CREs such as transposition, promoter switching or co-option. Only one case of de novo generation has been reported to date, in fish and without involvement of phenotype alteration. Yet, this event likely occurs in other animals and helps drive genetic/phenotypic variation. RESULTS: Using a porcine model of spontaneous hearing loss not previously characterized we performed gene mapping and mutation screening to determine the genetic foundation of the phenotype. We identified a mutation in the non-regulatory region of the melanocyte-specific promoter of microphthalmia-associated transcription factor (MITF) gene that generated a novel silencer. The consequent elimination of expression of the MITF-M isoform led to early degeneration of the intermediate cells of the cochlear stria vascularis and profound hearing loss, as well as depigmentation, all of which resemble the typical phenotype of Waardenburg syndrome in humans. The mutation exclusively affected MITF-M and no other isoforms. The essential function of Mitf-m in hearing development was further validated using a knock-out mouse model. CONCLUSIONS: Elimination of the MITF-M isoform alone is sufficient to cause deafness and depigmentation. To our knowledge, this study provides the first evidence of a de novo CRE in mammals that produces a systemic functional effect.

3 Article [Study of intratympanic methylprednisolone injections in diabetics with a sudden sensorineural hearing loss]. 2010

Li, Xin / Wang, Rui / Sun, Li-jun / Jiang, Zi-gang / Fu, Zhi-qiang / Guo, Ying / Tian, Xiao-bin / Zhang, Li-hong / Zhang, Xiao-yan. ·Department of Otothinolaryngology, Qinhuangdao First Hospital, Qinhuangdao 066000, China. ·Zhonghua Yi Xue Za Zhi · Pubmed #21211337.

ABSTRACT: OBJECTIVE: To evaluate the effects of intratympanic methylprednisolone injection by microcatheter in diabetics with a sudden hearing loss. METHODS: From July 2005 to November 2009, 113 diabetics with a sudden hearing loss within an onset of 10 days at our department were recruited. But they received no previous intervention and were assigned to treatment and control groups. Treatment group were made by microcatheter connected with an insulin bump. Microcatheter was placed in a round window niche and methylprednisolone (62.5 mg/ml) infused at a rate of 10 microl/h for 14 days. Then the microcatheter was extracted. Simultaneously vasodilation, neurotrophic, thrombolysis and insulin hypoglycemia were administered in all patients. Pure tone test was conducted at Days 10 and 20 after intervention. RESULTS: The outcome was as follows: cure (n = 6), efficacy (n = 19), effect (n = 12) and no effect (n = 11) respectively. The overall effective rate of 77.08% in the treatment group was superior to that in the control group. And there was statistical difference (P < 0.05). Pure tone average (PTA) of two groups showed no statistical difference. After 10 days, the PTA values were (66 ± 21) versus (76 ± 14) dB in the treatment and control groups respectively. At Day 20, the values were (50 ± 16) and (59 ± 12) dB respectively. The improvement of pure tone threshold at Days 10 and 20 had significant statistical difference (P < 0.05). Neither group had hypoglycemia or diabetic complications during treatment. And the prognosis had no obvious correlation with the severity of diabetes. CONCLUSION: The therapy of intratympanic methylprednisolone injection by microcatheter connected with micropump is both effective and feasible in diabetics with a sudden hearing loss.

4 Article Genetic mutations and aminoglycoside-induced ototoxicity in neonates. 2010

Johnson, Romaine F / Cohen, Aliza P / Guo, Yingshi / Schibler, Kurt / Greinwald, John H. ·Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390-9035, USA. Romaine.Johnson@utsouthwestern.edu ·Otolaryngol Head Neck Surg · Pubmed #20416460.

ABSTRACT: OBJECTIVE: Mutations in the 12S rRNA gene have been associated with aminoglycoside-induced ototoxicity. Our objective was to study the relationship of these mutations in neonates, duration of aminoglycoside exposure, and other known risk factors to the presence of hearing loss. STUDY DESIGN: Prospective case-cohort study. SETTING: Three neonatal intensive care units (NICUs) in Cincinnati, OH. SUBJECTS AND METHODS: We studied a population of premature, low-birth-weight (< 2500 g) infants admitted to one of three ICUs. Demographic, genetic, clinical, and audiometric data were collected, and the prevalence of 12S rRNA mutations was calculated. RESULTS: Of the 436 patients enrolled in the study, 378 were exposed to gentamicin during their ICU stay. Mutations in the 12S rRNA gene were identified in four patients (0.9%), all of whom received gentamicin. Of the cohort, 256 patients (60%) received a complete audiometric assessment; 39 failed their initial hearing assessment. Only one of these patients had a 12S rRNA mutation. Of these 39 patients, the mean birth weight (1645 g vs 1306 g) was significantly less than the birth weight of those infants who passed their initial hearing screening. Definitive hearing assessment for those who failed showed no significant differences, however. CONCLUSION: The prevalence of 12S rRNA mutations related to aminoglycoside ototoxicity in our study population was approximately one percent. Most patients with this mutation and aminoglycoside exposure showed no evidence of hearing loss. Low birth weight was one risk factor related to the presence of failing a hearing assessment.