听力损失|Overview
话题：患有电荷综合征的患者的听力损失
首席研究员：玛格丽特·肯纳博士
概括：电荷综合征是一种常染色体显性疾病，其特征是其首字母缩写为特征：coloboma，心脏缺陷，狂热CHOANAE，智障生长或发育，生殖器性下降和耳朵异常。电荷综合征不仅与外耳异常有关，而且与内耳结构的变化和听力损失有关。这项研究的目的是评估该患者人群听力损失的类型和发展。此外，我们将评估解剖异常或基因检测结果，听力损失程度和内耳异常之间是否存在相关性。
话题：Enlarged Vestibular Aqueduct
首席研究员：玛格丽特·肯纳博士
概括： 大前庭导水管综合征是最多的commonly identified inner ear bony malformation in patients with sensorineural loss. It is a congenital malformation of the temporal bone that causes early onset hearing loss and vestibular disturbances. It is also associated with multiple gene mutations, the most prominent of which is a mutation in SLC26A4 which encodes a transmembrane protein involved in chloride, iodide and bicarbonate ion transport. Improvements in the imaging studies used to evaluate the temporal bone in patients presenting with hearing loss have increased the frequency of this diagnosis. This growing population of patients warrants further study, especially considering long-term outcomes are not well defined. This study seeks to describe pediatric patients with EVA, and will be the largest study of this disease to date. In particular, we will exam the correlations between the anatomic structure of the vestibular aqueduct, audiometric findings, demographic variables, gene mutations, and clinical characteristics to better explore time dependent changes in patient phenotype. Notably, this study may influence future treatment protocol for these patients.
话题：患有囊性纤维化的患者的听力损失
首席研究员：玛格丽特·肯纳博士
概括：患有CF的儿童由于其作为治疗的一部分而接受的耳毒性药物有可能出现感官听力损失（SNHL）的风险。尽管这种风险得到了认可，但关于这种感觉障碍发生的原因，差距仍然存在，以及可以采取什么措施来防止这种情况。我们小组的一项试点研究表明，多达17％的CF患者最终会导致听力损失。在这项研究中，我们正在研究CF诊所中所有儿童的耳鼻喉科和听力记录。我们还正在收集有关患者已收到的潜在药物类型，剂量和给药途径的信息，以帮助管理其CF症状，以识别与SNHL发展相关的潜在危险因素。我们希望使用这些信息来维持或改善CF护理的质量，同时减少听力损失的发生率。
Additionally, we are conducting a study to try to identify causes of hearing loss in patients with Cystic Fibrosis. Patients with cystic fibrosis (CF) are at increased risk for sensorineural hearing loss (SNHL) due, at least in part, to the ototoxic side effects of routine CF therapies. However, the prevalence of SNHL and additional factors contributing to the development of SNHL are unknown. We are assessing the Cystic Fibrosis patient population’s noise exposure through surveying their use of MP3 players both at home and in the hospital. We would then like to look at their medical records for specific details regarding what ototoxic medication they are on, and dosage of medication in order to see if there is a confluence of components that make this population at higher risk for developing this sensory impairment.
话题：在听力学分析因内耳异常引起的导电性听力损失的患者
首席研究员：广为周博士
概括：This research seeks to examine the audiological profiles of patients with a conductive hearing loss, also know as an air/bone gap (the case where a person has better hearing when sound is conducted via bone versus via air). Traditionally, conductive hearing loss, indicated by air-bone gap in the audiogram, is linked to the external and/or middle ear pathologies, such as tympanic membrane perforation, otitis media with effusion, otosclerosis, etc. These pathological conditions are usually considered for a surgical procedure with great success in improving patients' hearing, or closing the air-bone gap. However, there are some patients with inner ear structural anomalies, such as superior semicircular canal dehiscence and enlarged vestibular aqueduct, can exhibit air-bone gap in their audiogram that mimics conductive hearing loss of middle/external ear origin. This study intends to identify the differences in the outcomes of audiological evaluation between patients with middle ear pathology and patients with inner ear anomaly. Findings from this study would help clinician, especially audiologists, in the diagnosis of conductive hearing loss.
话题：Cholesteatoma
首席研究员：Dr. Dennis Poe
概括：我们正在寻求理解预防和治疗胆汁脱蛋白瘤的最佳方法。听力保存和控制疾病是解决慢性耳部疾病患者管理的重要目标。我们正在比较患有胆汁淤积性手术方法不同的患者中的长期听力结果，消除疾病的发生率以及残留或复发性疾病的率。