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完整後設資料紀錄
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.advisor | 胡務亮(Wuh-Liang Hwu) | |
dc.contributor.author | Yung-Hsuan Wang | en |
dc.contributor.author | 王詠萱 | zh_TW |
dc.date.accessioned | 2021-06-17T01:27:43Z | - |
dc.date.available | 2022-09-08 | |
dc.date.copyright | 2017-09-08 | |
dc.date.issued | 2017 | |
dc.date.submitted | 2017-08-07 | |
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dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/67319 | - |
dc.description.abstract | 背景:AADC缺乏症患者因多巴胺與血清素的製造異常,導致睡眠週期紊亂、睡眠時易有不自主運動、呼吸型態不穩定或睡眠呼吸中止等問題。且因患者睡眠時咽喉部肌肉張力低下,易發生阻塞型睡眠呼吸中止症。近年來,AADC缺乏症患者接受基因治療後,病情皆有明顯進步,且病患父母也稱患童睡眠因此得到改善。本研究旨在探討基因治療後患者的睡眠呼吸變化。
方法:本研究納入了10位AADC缺乏症患者,接受基因治療時平均年紀為4.35 ± 0.81 歲(平均值 ± 標準差)(範圍:1.67-8.48歲;男性為5位,女性為5位)。本研究藉由回溯性的方式,分析基因治療前後的24小時血氧脈搏記錄。檢查於基因治療前執行一次,並於基因治療後第6個月與第12個月各執行一次,持續追蹤一年。 結果:經研究分析後發現,AADC缺乏症患者在經過基因治療後12個月,其血氧飽和度指數與睡眠呼吸中止嚴重度皆從重度顯著下降至輕-中度;除此之外,血氧濃度低於90%的時間也有顯著性的減少。在經過基因治療後6個月,發生呼吸事件的總時間、每次發生呼吸事件的平均時間,以及發生血氧低於90%的呼吸事件次數都有顯著改善。 結論:AADC缺乏症患者在經過基因治療後,睡眠呼吸中止的嚴重程度有明顯進步,且與發生低血氧的相關參數皆有顯著改善。 | zh_TW |
dc.description.abstract | Background: The patients on Aromatic L-amino acid decarboxylase (AADC) deficiency are showed symptoms of restlessness, anxiety, respiratory distress, sleep apnea and involuntary limbs movement during sleep due to the abnormal dopamine and serotonin level. Besides, they have the problem of extreme hypotonia, the upper airway will collapse at a lower threshold, inducing the obstruction sleep apnea (OSA). Recently, gene therapy was performed on AADC deficiency children. After treatment, they gradually gained some improvement and their parents claimed that the children also slept better. Therefore, the aim of this study was to assess the severity of sleep apnea and the respiratory characteristics on AADC deficiency patients after gene therapy.
Materials and methods: We performed a retrospective cohort study of ten AADC deficiency patients (5 boys and 5 girls; mean age 4.35 ± 0.81 years [mean ± SD], range 1.67 to 8.48 years) with gene therapy were studied. Participants completed 24-hour oximetry at the time of pretreatment, 6 months and 12 months after treatment. The follow-up duration was 1 year. Results: In this research, we found that after 12 months of receiving gene therapy, the oximetry score and OSA severity of AADC deficiency patients were significantly decreased from severe to mild-moderate. Time < 90% (min) was improved as well. After 6 months of treatment, Time in Events, Average Event Duration and Events < 90% were clearly reduced. Conclusion: To sum up, OSA severity and some desaturation related characteristics of AADC deficiency patients had a statistically significant improve after gene transfer. | en |
dc.description.provenance | Made available in DSpace on 2021-06-17T01:27:43Z (GMT). No. of bitstreams: 1 ntu-106-P04448002-1.pdf: 12147011 bytes, checksum: f3cc19d3c3bbbf3655657bc4bedd46fd (MD5) Previous issue date: 2017 | en |
dc.description.tableofcontents | 謝誌 i
中文摘要 ii ABSTRACT iii CONTENTS iv LIST OF TABLES vi LIST OF FIGURES vii Chapter 1 Background 1 1.1 Aromatic L-amino Acid Decarboxylase Deficiency 1 1.1.1 Clinical features of AADC deficiency 1 1.1.2 Clinical management of AADC deficiency 2 1.2 Neurobiology of Sleep 3 1.2.1 Wake-promoting group 4 1.2.2 Sleep-producing group 5 1.3 Sleep Apnea 5 1.3.1 Obstructive sleep apnea (OSA) 6 1.3.2 Central sleep apnea (CSA) 6 1.3.3 Mixed sleep apnea (MSA) 7 1.3.4 Clinical features of sleep apnea 7 1.3.5 Evaluations for sleep apnea 7 1.3.6 Sleep apnea in AADC deficiency patients 8 1.4 Aim of the study 9 Chapter 2 Materials and Methods 10 2.1 Participants 10 2.2 Sleep Apnea Evaluations 11 2.3 Developmental Evaluations 11 2.4 Statistics 12 Chapter 3 Results 14 3.1 Patient Characteristics 14 3.2 Changes of OSA Severity Before and After Gene Therapy 14 3.3 The Description and Comparisons with Time 14 3.3.1 Comparison of pre-test and post-test after 12 months 15 3.3.2 Comparison of pre-test and post-test after 6 months 15 3.3.3 Comparison of post-test after 6 months and after 12 months 15 3.4 Correlation of Motor Function and Sleep Study Result 15 3.4.1 Post-test after 12 months 16 3.4.2 Post-test after 6 months 16 3.5 The Statistics Result 16 Chapter 4 Discussion 18 4.1 The Finding of the Study 18 4.2 Limitation of the Study 23 4.2.1 Limitation of the data collecting 23 4.2.2 Limitation of the statistics 23 4.2.3 Limitation of the sleeping test 24 4.3 Recommendations for Future Research 24 Chapter 5 Conclusion 26 REFERENCES 27 | |
dc.language.iso | en | |
dc.title | 探討AADC缺乏症患者接受基因治療後之睡眠呼吸變化 | zh_TW |
dc.title | Respiratory Characteristics on Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Patients after Gene Therapy | en |
dc.type | Thesis | |
dc.date.schoolyear | 105-2 | |
dc.description.degree | 碩士 | |
dc.contributor.oralexamcommittee | 簡穎秀(Yin-Hsiu Chien),李妮鍾(Ni-Chung Lee) | |
dc.subject.keyword | AADC缺乏症,基因治療,呼吸參數,睡眠呼吸中止症, | zh_TW |
dc.subject.keyword | AADC deficiency,gene therapy,respiratory characteristics,sleep apnea, | en |
dc.relation.page | 60 | |
dc.identifier.doi | 10.6342/NTU201702284 | |
dc.rights.note | 有償授權 | |
dc.date.accepted | 2017-08-07 | |
dc.contributor.author-college | 醫學院 | zh_TW |
dc.contributor.author-dept | 分子醫學研究所 | zh_TW |
顯示於系所單位: | 分子醫學研究所 |
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