The Otopathology of Hearing Loss: Genotype-Phenotype Correlation in Human TB

听力损失的耳病理学：人类结核病的基因型与表型相关性

• 批准号: 8914407
• 负责人: Akira Ishiyama
• 金额: $ 42.59万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-09-01 至 2016-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8914407
• 关键词: Acoustic Neuroma; Area; Auditory; Biocompatible Materials; Biological; Biopsy; Bone Banks; California; Cataloging; Catalogs; Clinical Data; Collaborations; Collection; Communication; Correlation Studies; Counseling; DNA; DNA Sequence Alteration; Data; Data Analyses; Databases; Disease; Disease Progression; Ear; Education; Etiology; Eye; Funding; Future; Genes; Genetic; Genetic Counseling; Genetic Screening; Genotype; Goals; Hearing; Hearing problem; Hereditary Disease; Housing; Human; Inherited; Institutes; Knowledge; Labyrinth; Link; Massachusetts; Meniere' s Disease; Minnesota; Molecular; National Institute on Deafness and Other Communication Disorders; Nerve; Neurosciences; Otosclerosis; Outcome; Patients; Pattern; Phenotype; Population; Principal Investigator; Process; Proteins; Registries; Reporting; Research; Research Personnel; Resources; Sensorineural Hearing Loss; Severity of illness; Source; Structure; Techniques; Temporal bone structure; Testing; Training; Training Programs; Universities; base; bone; clinically relevant; design; genetic disorder diagnosis; genetic variant; genome wide association study; hearing impairment; improved; indexing; inner ear diseases; member; outreach

DESCRIPTION (provided by applicant): Correlating otopathological analysis with genetic screening for existing syndromic and non-syndromic inner ear diseases is the goal of the House Ear Institute's contribution to the NIDCD's Otopathology Research Collaboration Network. The value of these correlations lies in connecting genetic diagnosis with a better understanding of disease progression and pathological sequelae, as well as the identification of targets for future treatment and, importantly, improved genetic counseling. Because of an almost complete lack of human biopsy material associated with inner ear disease, such connections remain largely unknown, and the only source of this information is the existing post-mortem temporal bone collections. For this reason, we have developed techniques for extracting and analyzing biological material (DNA and protein) from existing archival temporal bones for which relevant clinical data is cataloged and available. Here, we propose several Specific Aims designed to identify the underlying genetic mutations/genetic variants in existing temporal bone collections housed by members of our consortium, with the purpose of establishing a genotype/otopathology phenotype correlation. This has not been done consistently for any of the known genetic disorders of the inner ear, and the successful outcome of this proposal promises to provide an enhanced resource for the clinician and researcher who wish to link the etiology of inner ear disease with its otopathological outcome.

描述（由申请人提供）：将耳病理学分析与现有综合征和非综合征内耳疾病的遗传筛查相关联是House Ear Institute对NIDCD耳病理学研究合作网络的贡献的目标。这些相关性的价值在于将遗传诊断与更好地了解疾病进展和病理后遗症联系起来，以及确定未来治疗的目标，重要的是，改进遗传咨询。由于几乎完全缺乏与内耳疾病相关的人类活检材料，这种联系在很大程度上仍然未知，这些信息的唯一来源是现有的死后颞骨收集。出于这个原因，我们开发了从现有的档案颞骨中提取和分析生物材料（DNA和蛋白质）的技术，这些颞骨的相关临床数据已被编目并可用。在这里，我们提出了几个特定的目标，旨在确定潜在的基因突变/遗传变异，在现有的颞骨收藏由我们的联盟成员，建立基因型/耳病理表型相关性的目的。对于任何已知的内耳遗传性疾病，这一点还没有得到一致的解决，这一建议的成功结果有望为希望将内耳疾病的病因与其耳病理学结果联系起来的临床医生和研究人员提供增强的资源。

项目成果

A Histopathologic Comparison of Eustachian Tube Anatomy in Pediatric and Adult Temporal Bones.

儿童和成人颞骨咽鼓管解剖结构的组织病理学比较。

• DOI: 10.1097/mao.0000000000002112
• 发表时间: 2019
• 期刊: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
• 作者: Noonan,KathrynY;Linthicum,FredH;Lopez,IvanA;Ishiyama,Akira;Miller,MiaE
• 通讯作者: Miller,MiaE

Spiral ganglion deficiency in adult-onset deafness-dystonia syndrome.

成人发病的耳聋肌张力障碍综合征中的螺旋神经节缺陷。

• DOI: 10.1097/mao.0b013e3182a09b3b
• 发表时间: 2013
• 期刊: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
• 作者: Hoa,Michael;LinthicumJr,FredH
• 通讯作者: LinthicumJr,FredH

Temporal bone histopathology case of the month: Incidental discovery of a temporal bone chondroblastoma on an archived histopathologic section.

本月颞骨组织病理学病例：在存档的组织病理学切片上偶然发现颞骨软骨母细胞瘤。

• DOI: 10.1097/mao.0b013e318278bcdb
• 发表时间: 2013
• 期刊: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
• 作者: Richard,Céline;LinthicumJr,FredH;Doherty,JoniK
• 通讯作者: Doherty,JoniK

Atrophy of the Stria Vascularis.

血管纹萎缩。

• DOI: 10.1097/mao.0000000000000935
• 发表时间: 2016
• 期刊: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
• 作者: Peng,KevinA;LinthicumJr,FredH
• 通讯作者: LinthicumJr,FredH

Recurrent schwannoma postirradiation: histological review reveals mixed schwannoma and meningioma.

放射后复发性神经鞘瘤：组织学检查显示混合性神经鞘瘤和脑膜瘤。

• DOI: 10.1177/0194599813475572
• 发表时间: 2013
• 期刊: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
• 作者: Kimmel,RachelA;Doherty,Joni;Slattery3rd,WilliamH;LinthicumJr,FredH
• 通讯作者: LinthicumJr,FredH