Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study)
Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study)
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疑似睡眠呼吸暂停患者迟发性庞贝病的潜在患者筛查：日本前瞻性多中心观察队列研究（PSSAP-J 研究）的基本原理和研究设计
DOI：
10.1007/s11325-020-02170-6
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发表时间：
2020
影响因子：
2.5
通讯作者：
Ta
中科院分区：
文献类型：
--
作者：
Yamauchi Motoo;Nakayama Hideaki;Shiota Satomi;Ohshima Yasuyoshi;Terada Jiro;Nishijima Tsuguo;Kosuga Motomichi;Kitamura Takuro;Tachibana Naoko;Oguri Takuya;Shirahama Ryutaro;Aoki Yasuhiro;Ishigaki Keiko;Sugie Kazuma;Yagi Tomoko;Muraki Hisae;Fujita Yukio;Ta
背景庞贝氏症是一种由酸性α-葡萄糖苷酶（GAA）缺乏引起的常染色体隐性遗传病。GAA缺乏会引起糖原累积，导致呼吸肌（包括膈肌）无力。庞贝氏症是为数不多的肌病之一，其中一个既定的治疗是可用的。因此，早期检测潜在的晚发性庞贝氏症（LOPD）和早期干预将有显着的临床impacts.PurposeOur假设是，睡眠问题，包括睡眠呼吸障碍（SDB）和临床症状可能表明LOPD的早期阶段，因为呼吸肌活动减少一般首先出现在睡眠期间。因此，这个前瞻性的，多中心的观察性队列研究在日本（PSSAP-J）的目的是证明一个更高的患病率LOPD在睡眠实验室为基础的人口（主要成果），并确定预测因素的LOPD诊断多导睡眠图（PSG）和临床症状（次要成果）的结果。将入组因疑似SDB而到睡眠实验室接受夜间PSG检查的连续性患者。所有患者将进行肌酸激酶、GAA活性测定，必要时进行GAA基因分析。此外，还将收集胸部X线、肺功能检查和动脉血气分析。然后，我结果先天性肌病表现为从清醒到睡眠的过渡过程中，呼吸由深慢向浅快转变，伴有醒时喘息的症状（实际的进一步结果待定）。讨论LOPD特定的清醒和睡眠期间呼吸生理学的分布可以提供对早期-临床试验注册号UMIN 000039191，UMIN临床试验注册中心（ http://www.umin.ac.jp/ctr ).
BackgroundPompe disease is an autosomal recessive disorder caused by deficiency of the acid α-glucosidase (GAA) enzyme. GAA deficiency induces progressive glycogen accumulation which leads to weakness of the respiratory muscle including the diaphragm. Pompe disease is one of the few myopathies, for which an established therapy is available. Thus, earlier detection of potential late-onset Pompe disease (LOPD) and earlier intervention would have a significant clinical impact.PurposeOur hypothesis is that sleep problems including sleep disordered breathing (SDB) and clinical symptoms may indicate an early stage of LOPD since decreased respiratory muscle activity generally first presents during sleep. Thus, the aims of this prospective, multicenter observational cohort study in Japan (PSSAP-J) are to demonstrate a higher prevalence of LOPD in a sleep lab–based population (primary outcome), and to identify predictive factors for LOPD from findings in diagnostic polysomnography (PSG) and clinical symptoms (secondary outcomes).MethodsThe study design is a prospective multicenter observational cohort study. Consecutive patients who present to sleep labs due to suspected SDB for an overnight PSG will be enrolled. All patients will be measured for creatine kinase, GAA activity, and if necessary, genetic analysis ofGAA. Furthermore, chest X-ray, pulmonary function test, and arterial blood gas analysis will be collected. Then, prevalence and specific findings of LOPD will be assessed.ResultCongenital myopathy shows a shift from slow-deep to rapid-shallow breathing during transition from wakefulness to sleep accompanying a symptom of waking with gasping (actual further results are pending).DiscussionThe distribution in respiratory physiology between during wakefulness and sleep specific to LOPD may provide insights into early-stage detection.Clinical trial registration numberUMIN000039191, UMIN Clinical Trials Registry ( http://www.umin.ac.jp/ctr ).
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影响因子：
9.9
作者：
Kuperus, Esther;Kruijshaar, Michelle E.;van der Beek, Nadine A. M. E.
通讯作者：
van der Beek, Nadine A. M. E.
影响因子：
3.3
作者：
JOHNSON, MW;REMMERS, JE
通讯作者：
REMMERS, JE
影响因子：
5.1
作者：
Boentert, M.;Karabul, N.;Young, P.
通讯作者：
Young, P.
安静睡眠对人类休息和二氧化碳刺激呼吸的影响。
DOI：
--
发表时间：
1981
期刊：
Journal of applied physiology: respiratory, environmental and exercise physiology
影响因子：
--
作者：
B. Gothe;M. Altose;M. Goldman;N. Cherniack
通讯作者：
N. Cherniack
日本版 Epworth 嗜睡量表 (JESS) -与许多以前使用的“日本版本”的主要区别和修订 -
DOI：
--
发表时间：
2006
期刊：
日本呼吸器学会誌 44
影响因子：
--
作者：
福原俊一;竹上未紗;鈴鴨よしみ;陳 和夫;井上雄一;角谷 寛;岡 靖哲;野口裕之;脇田貴文;並川 努;中村敬哉;三嶋理晃;Murray W. Johns.
通讯作者：
Murray W. Johns.