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http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/80556完整後設資料紀錄
| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 許權振(Chuan-Jen Hsu) | |
| dc.contributor.author | Chee-Yee Lee | en |
| dc.contributor.author | 李致宇 | zh_TW |
| dc.date.accessioned | 2022-11-24T03:09:17Z | - |
| dc.date.available | 2021-11-05 | |
| dc.date.available | 2022-11-24T03:09:17Z | - |
| dc.date.copyright | 2021-11-05 | |
| dc.date.issued | 2021 | |
| dc.date.submitted | 2021-10-27 | |
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Fang, H.-Y., et al., Auditory performance and speech intelligibility of Mandarin-speaking children implanted before age 5. International Journal of Pediatric Otorhinolaryngology, 2014. 78(5): p. 799-803. 31. Seligman, K.L., et al., Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients. Otolaryngology–Head and Neck Surgery, 2021: p. 019459982110213. 32. Chen, P.Y., et al., Prediction Model for Audiological Outcomes in Patients With GJB2 Mutations. Ear Hear, 2020. 41(1): p. 143-149. 33. Park, J.H., et al., Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology. Ear Hearing, 2017. 38(5): p. e316-e324. 34. Cardon, G. and A. Sharma, Central auditory maturation and behavioral outcome in children with auditory neuropathy spectrum disorder who use cochlear implants. International Journal of Audiology, 2013. 52(9): p. 577-586. 35. Liu, Y., et al., Effect of age at cochlear implantation on auditory and speech development of children with auditory neuropathy spectrum disorder. Auris Nasus Larynx, 2014. 41(6): p. 502-506. 36. Sharma, A. and G. Cardon, Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder. Hear Res, 2015. 330(Pt B): p. 221-32. 37. Wu, C.-C., et al., Newborn genetic screening for hearing impairment: a population-based longitudinal study. Genetics in Medicine, 2016. 19(1): p. 6-12. 38. Nishio, S.-y., et al., Gene Expression Profiles of the Cochlea and Vestibular Endorgans. Annals of Otology, Rhinology Laryngology, 2015. 124(1_suppl): p. 6S-48S. 39. Belyantseva, I.A., E.T. Boger, and T.B. Friedman, Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proceedings of the National Academy of Sciences, 2003. 100(24): p. 13958-13963. 40. Fang, Q., et al., The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing. eLife, 2015. 4. 41. Broomfield, S.J., et al., Cochlear implantation in children with syndromic deafness. International Journal of Pediatric Otorhinolaryngology, 2013. 77(8): p. 1312-1316. 42. Willaredt, M.A., L. Ebbers, and H.G. Nothwang, Central auditory function of deafness genes. Hear Res, 2014. 312: p. 9-20. 43. Colletti, L., et al., The Therapeutic Dilemma of Cochlear Nerve Deficiency: Cochlear or Brainstem Implantation? Otolaryngol Head Neck Surg, 2014. 151(2): p. 308-14. | |
| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/80556 | - |
| dc.description.abstract | "目的： 重度至極重度聽損之兒童患者其病因和臨床特徵的多樣性，使其治療極具挑戰性，而人工耳蝸（cochlear implant, CI）植入手術後的成效也差異很大。本研究的目的即在探討兒童人工耳蝸植入之成因分析及其成效表現。 研究方法及材料： 吾人收集了2010年至2021年間在臺大醫院及臺中慈濟醫院重度至極重度聽損並接受人工耳蝸植入手術的兒童患者。所有病患均符合以下之納入標準：有完整病史、影像學檢查和遺傳基因檢測以進行病因分析；並術後追蹤至少六個月以上的聽能量表（CAP）和語音清晰度量表（SIR），作為人工耳蝸植入手術後的成效之評估工具。 結果： 本回溯性研究共收集了160名人工耳蝸植入的重度至極重度聽損兒童病患，其中有76名女性及84名男性。人工耳蝸植入手術的平均年齡為4.9歲。64名患者接受了雙側人工耳蝸植入，96名患者只接受了單側人工耳蝸植入。根據病因分析歸類共有以下六組，分別為非症候群聽損（non-syndromic hearing loss, NSHL）、症候群聽損（syndromic hearing loss, SHL）、聽神經細小（cochlear nerve deficiency, CND）、其他內耳畸形（other inner ear malformations, IEMs）、先天性巨細胞病毒（cytomegalovirus, CMV）感染和未知病因。有基因診斷的患者共有98名（佔61%），包含了22名GJB2、36名SLC26A4、10名MYO15A、10名OTOF、4名CHD7/CHARGE症候群、4名Usher尤塞氏症候群（3名MYO7A；1名CDH23）、2名Waardenburg瓦登伯格氏症候群（MITF和PAX3各1名）、2名LEOPARD症候群（PTPN11）、1名DiGeorge 症候群（TBX1）。其他罕見的基因變異包括：MTRNR1、ILDR1、TECTA、WFS1、OPA1、FGFR3、COL2A1，各佔1名。而31名患者（佔19%）係影像診斷，包含了20名CND和11名other IEMs的患者。另外，有4名患者（佔3%）是CMV感染，及27名患者（佔17%）經完整基因檢查、影像檢查及病史評估後仍屬未知病因。在平均 CAP分數，NSHL（5.9±1.5）、other IEMs（5.6±1.2）和未知病因（5.9±1.1）優於SHL（4.4±2.0）和CND（3.1±2.1）組別。與其他病因組別相比，CND組的平均 SIR 分數也最差 (1.7±1.0)。針對NSHL患者中，局限於耳蝸病變的基因，我們進行了亞組分析。在 GJB2、MYO15A、OTOF 和 SLC26A4 四個亞組中，平均 CAP 和 SIR 的分數在這些亞組之間並沒有顯著差異。在比較術後追蹤成效的分組中，我們發現成效不佳的組別男性（p = 0.031）及CND 佔多數（p < 0.001）。而成效表現良好的組別其局限於耳蝸病變的基因（GJB2、SLC26A4、MYO15A 和 OTOF）佔多數（p = 0.023）。 結論： 植入人工耳蝸的聽障兒童之病因診斷率為 80%，其中基因診斷佔 61%，影像學診斷佔19%。局限於耳蝸病變的基因診斷患者俱有較好的 CI 成效表現，而男性及聽神經細小患者較差的CI 成效表現。因此，我們建議將次世代定序基因檢測和影像學檢查一併納入 CI 候選者的綜合性術前評估。在人工耳蝸植入手術前能確定基因變異或其他可能之病因，將有助於評估人工耳蝸植入的成效表現，實踐精準醫療。 " | zh_TW |
| dc.description.provenance | Made available in DSpace on 2022-11-24T03:09:17Z (GMT). No. of bitstreams: 1 U0001-2510202117481700.pdf: 2084373 bytes, checksum: 74ae0ed3c3f973583f1ed7ba4bba6ee2 (MD5) Previous issue date: 2021 | en |
| dc.description.tableofcontents | 口試委員會審定書...i 誌謝...ii 中文摘要...iv 英文摘要...vi 碩士論文內容 一、緒論Introduction...1 二、研究材料與方法 Materials and Methods...5 三、結果 Result...8 四、討論Discussion...12 五、結論與展望Conclusion and Future Plans...18 六、參考文獻 References...20 七、圖表 Figures and Tables 圖一 Figure 1...23 圖二 Figure 2...24 圖二 Figure 3...25 表一 Table 1...26 表二 Table 2...27 表三 Table 3...28 表四 Table 4...29 表五 Table 5...30 表六 Table 6...31 表七 Table 7...32 表八 Table 8...33 表九 Table 9...34 八、附錄：列出個人在碩士班修業期間所發表之相關論文清冊...38 | |
| dc.language.iso | en | |
| dc.subject | 次世代定序 | zh_TW |
| dc.subject | 人工耳蝸 | zh_TW |
| dc.subject | 基因診斷 | zh_TW |
| dc.subject | Cochlear implant | en |
| dc.subject | Genetic diagnosis | en |
| dc.subject | Next generation sequencing | en |
| dc.title | 次世代定序在接受人工耳蝸植入的兒童聽障患者之基因診斷及應用 | zh_TW |
| dc.title | Targeted next generation sequencing for genetic diagnosis in children with cochlear implants. | en |
| dc.date.schoolyear | 109-2 | |
| dc.description.degree | 碩士 | |
| dc.contributor.coadvisor | 吳振吉(Chen-Chi Wu) | |
| dc.contributor.oralexamcommittee | 吳弘斌(Hsin-Tsai Liu),(Chih-Yang Tseng) | |
| dc.subject.keyword | 次世代定序,人工耳蝸,基因診斷, | zh_TW |
| dc.subject.keyword | Next generation sequencing,Cochlear implant,Genetic diagnosis, | en |
| dc.relation.page | 38 | |
| dc.identifier.doi | 10.6342/NTU202104167 | |
| dc.rights.note | 同意授權(限校園內公開) | |
| dc.date.accepted | 2021-10-27 | |
| dc.contributor.author-college | 醫學院 | zh_TW |
| dc.contributor.author-dept | 臨床醫學研究所 | zh_TW |
| 顯示於系所單位： | 臨床醫學研究所 | |
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