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Recent insights into the pathophysiology of narcolepsy type 1 对 1 型嗜睡症病理生理学的最新见解。
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-08-15 DOI: 10.1016/j.smrv.2024.101993
Marieke Vringer , Jingru Zhou , Jari K. Gool , Denise Bijlenga , Gert Jan Lammers , Rolf Fronczek , Mink S. Schinkelshoek

Narcolepsy type 1 (NT1) is a sleep-wake disorder in which people typically experience excessive daytime sleepiness, cataplexy and other sleep-wake disturbances impairing daily life activities. NT1 symptoms are due to hypocretin deficiency. The cause for the observed hypocretin deficiency remains unclear, even though the most likely hypothesis is that this is due to an auto-immune process. The search for autoantibodies and autoreactive T-cells has not yet produced conclusive evidence for or against the auto-immune hypothesis. Other mechanisms, such as reduced corticotrophin-releasing hormone production in the paraventricular nucleus have recently been suggested. There is no reversive treatment, and the therapeutic approach is symptomatic. Early diagnosis and appropriate NT1 treatment is essential, especially in children to prevent impaired cognitive, emotional and social development. Hypocretin receptor agonists have been designed to replace the attenuated hypocretin signalling. Pre-clinical and clinical trials have shown encouraging initial results. A better understanding of NT1 pathophysiology may contribute to faster diagnosis or treatments, which may cure or prevent it.

1 型嗜睡症(NT1)是一种睡眠觉醒障碍,患者通常会出现白天过度嗜睡、手足抽搐和其他睡眠觉醒障碍,从而影响日常生活活动。NT1症状是由于视网膜下素缺乏引起的。尽管最有可能的假设是这是由于自身免疫过程造成的,但观察到的视网膜下素缺乏症的原因仍不清楚。对自身抗体和自身反应性 T 细胞的研究尚未得出支持或反对自身免疫假说的确凿证据。最近还有人提出了其他机制,如脑室旁核分泌的促肾上腺皮质激素释放激素减少。目前还没有可逆转的治疗方法,只能对症治疗。早期诊断和适当的 NT1 治疗至关重要,尤其是在儿童中,以防止认知、情感和社会发展受损。已设计出下视蛋白受体激动剂来替代减弱的下视蛋白信号。临床前和临床试验已显示出令人鼓舞的初步结果。更好地了解 NT1 的病理生理学可能有助于更快地诊断或治疗,从而治愈或预防这种疾病。
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引用次数: 0
Eating disorders and sleep disorders: A bidirectional interaction? 进食障碍和睡眠障碍:双向互动?
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-08-13 DOI: 10.1016/j.smrv.2024.101992
Andrea Romigi
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引用次数: 0
Diagnostic accuracy of portable sleep monitors in pediatric sleep apnea: A systematic review 便携式睡眠监测仪对小儿睡眠呼吸暂停的诊断准确性:系统综述。
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-08-08 DOI: 10.1016/j.smrv.2024.101991
Vivianne Landry , Koorosh Semsar-Kazerooni , Tanya Chen , Joshua Gurberg , Lily H.P. Nguyen , Evelyn Constantin

In recent years, a plethora of new type III and IV portable sleep monitors (PSM) have been developed, although evidence regarding their diagnostic accuracy for use in children remains heterogeneous. This study systematically reviews the literature addressing the diagnostic accuracies of type III and IV PSM for pediatric sleep apnea. Publications indexed in Medline, Embase, or Web of Science were reviewed using the PRISMA framework. Of 1054 studies, 62 fulfilled the inclusion criteria. Of the studies evaluating oximetry-based type IV PSM, one (6.25 %) demonstrated a balanced set of high (≥80 %) sensitivities and specificities for the diagnosis of any pediatric sleep apnea, while five studies (27.8 %) showed similar accuracies for moderate-to-severe sleep apnea. For non-oximetry-based type IV PSM, two studies (40 %) reported a balanced set of high diagnostic accuracies for moderate-to-severe sleep apnea. Type III PSM repeatedly demonstrated higher diagnostic accuracies, with six studies (66.7 %) reporting a balanced set of high diagnostic accuracies for moderate-to-severe sleep apnea. This review highlights the potential of type III PSM to detect moderate-to-severe pediatric sleep apnea, although current evidence is limited to support the stand-alone use of type IV PSM for the diagnosis of sleep apnea in most children.

近年来,新型 III 型和 IV 型便携式睡眠监测仪(PSM)层出不穷,但有关其在儿童中使用的诊断准确性的证据仍然参差不齐。本研究系统回顾了有关 III 型和 IV 型便携式睡眠监测仪对儿童睡眠呼吸暂停诊断准确性的文献。采用 PRISMA 框架对 Medline、Embase 或 Web of Science 索引的文献进行了审查。在 1054 项研究中,有 62 项符合纳入标准。在对基于血氧仪的 IV 型 PSM 进行评估的研究中,有一项研究(6.25%)对任何小儿睡眠呼吸暂停的诊断都显示出了一组均衡的高(≥80%)灵敏度和特异性,而有五项研究(27.8%)对中度至重度睡眠呼吸暂停显示出了类似的准确性。对于非氧饱和度测量法的 IV 型 PSM,有两项研究(40%)对中度至重度睡眠呼吸暂停的诊断准确率较高。III 型 PSM 的诊断准确率较高,有六项研究(66.7%)报告了中重度睡眠呼吸暂停的高诊断准确率。本综述强调了 III 型 PSM 检测中重度儿科睡眠呼吸暂停的潜力,尽管目前的证据有限,不足以支持单独使用 IV 型 PSM 诊断大多数儿童的睡眠呼吸暂停。
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引用次数: 0
To nap or not? Evidence from a meta-analysis of cohort studies of habitual daytime napping and health outcomes 打盹还是不打盹?关于习惯性日间小睡与健康结果的队列研究荟萃分析提供的证据
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-08-08 DOI: 10.1016/j.smrv.2024.101989
Ying-Bo Yang , Yong-Bo Zheng , Jie Sun , Lu-Lu Yang , Jiao Li , Yi-Miao Gong , Ming-Zhe Li , Xin Wen , Hao-Yun Zhao , Pei-Pei Shi , Gui-Hua Yu , Zhou-Long Yu , Yu Chen , Kai Yuan , Jia-Hui Deng , Su-Xia Li , Yong-Feng Yang , Zhao-Hui Zhang , Michael V. Vitiello , Jie Shi , Yan-Ping Bao

Habitual daytime napping is a common behavioral and lifestyle practice in particular countries and is often considered part of a normal daily routine. However, recent evidence suggests that the health effects of habitual daytime napping are controversial. We systematically searched PubMed, Web of Science, Embase, and Cochrane Library databases from inception to March 9, 2024, to synthesize cohort studies of napping and health outcome risk. A total of 44 cohort studies with 1,864,274 subjects aged 20-86 years (mean age 56.4 years) were included. Overall, habitual napping increased the risk of several adverse health outcomes, including all-cause mortality, cardiovascular disease, metabolic disease, and cancer, and decreased the risk of cognitive impairment and sarcopenia. Individuals with a napping duration of 30 min or longer exhibited a higher risk of all-cause mortality, cardiovascular disease, and metabolic disease, whereas those with napping durations less than 30 min had no significant risks. No significant differences in napping and health risks were observed for napping frequency, percentage of nappers, sample size, sex, age, body mass index, follow-up years, or comorbidity status. These findings indicate that individuals with a long napping duration should consider shortening their daily nap duration to 30 min or less.

在一些国家,习惯性白天小睡是一种常见的行为和生活方式,通常被认为是正常日常生活的一部分。然而,最近的证据表明,习惯性白天小睡对健康的影响还存在争议。我们系统地检索了 PubMed、Web of Science、Embase 和 Cochrane Library 数据库(从开始到 2024 年 3 月 9 日),对有关午睡和健康结果风险的队列研究进行了综合分析。共纳入了 44 项队列研究,研究对象有 1864274 人,年龄在 20-86 岁之间(平均年龄为 56.4 岁)。总体而言,习惯性午睡会增加多种不良健康后果的风险,包括全因死亡率、心血管疾病、代谢性疾病和癌症,并降低认知障碍和肌肉疏松症的风险。小睡时间为 30 分钟或更长的人罹患全因死亡率、心血管疾病和代谢疾病的风险较高,而小睡时间少于 30 分钟的人则无明显风险。在午睡频率、午睡者比例、样本大小、性别、年龄、体重指数、随访年数或合并症状况方面,均未观察到午睡与健康风险之间存在明显差异。这些研究结果表明,午睡时间较长的人应考虑将每天的午睡时间缩短至30分钟或更短。
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引用次数: 0
REM sleep in narcolepsy 嗜睡症的快速动眼期睡眠
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-08-03 DOI: 10.1016/j.smrv.2024.101976
Michael J. Thorpy , Jerome M. Siegel , Yves Dauvilliers

Narcolepsy is mainly associated with excessive daytime sleepiness, but the characteristic feature is abnormal rapid eye movement (REM) sleep phenomena. REM sleep disturbances can manifest as cataplexy (in narcolepsy type 1), sleep paralysis, sleep-related hallucinations, REM sleep behavior disorder, abnormal dreams, polysomnographic evidence of REM sleep disruption with sleep-onset REM periods, and fragmented REM sleep. Characterization of REM sleep and related symptoms facilitates the differentiation of narcolepsy from other central hypersomnolence disorders and aids in distinguishing between narcolepsy types 1 and 2. A circuit comprising regions within the brainstem, forebrain, and hypothalamus is involved in generating and regulating REM sleep, which is influenced by changes in monoamines, acetylcholine, and neuropeptides. REM sleep is associated with brainstem functions, including autonomic control, and REM sleep disturbances may be associated with increased cardiovascular risk. Medications used to treat narcolepsy (and REM-related symptoms of narcolepsy) include stimulants/wake-promoting agents, pitolisant, oxybates, and antidepressants; hypocretin agonists are a potential new class of therapeutics. The role of REM sleep disturbances in narcolepsy remains an area of active research in pathophysiology, symptom management, and treatment. This review summarizes the current understanding of the role of REM sleep and its dysfunction in narcolepsy.

嗜睡症主要与白天过度嗜睡有关,但其特征是快速眼动(REM)睡眠异常现象。快速眼动睡眠障碍可表现为惊厥(嗜睡症 1 型)、睡眠麻痹、与睡眠相关的幻觉、快速眼动睡眠行为障碍、异常梦境、多导睡眠图显示的快速眼动睡眠中断与睡眠期启动的快速眼动期,以及零碎的快速眼动睡眠。快速动眼期睡眠和相关症状的特征有助于区分嗜睡症和其他中枢性嗜睡症,并有助于区分嗜睡症 1 型和 2 型。由脑干、前脑和下丘脑组成的回路参与产生和调节快速动眼期睡眠,而快速动眼期睡眠受单胺类物质、乙酰胆碱和神经肽变化的影响。快速动眼期睡眠与脑干功能(包括自主神经控制)有关,快速动眼期睡眠障碍可能与心血管风险增加有关。用于治疗嗜睡症(以及嗜睡症的快速动眼期相关症状)的药物包括兴奋剂/促醒剂、眠尔通、羟苯乙酯和抗抑郁剂;视网膜下素激动剂是一类潜在的新疗法。快速动眼期睡眠障碍在嗜睡症中的作用仍然是病理生理学、症状管理和治疗方面一个活跃的研究领域。本综述总结了目前对快速动眼期睡眠及其功能障碍在嗜睡症中的作用的认识。
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引用次数: 0
Physiology during sleep in preterm infants: Implications for increased risk for the sudden infant death syndrome 早产儿睡眠时的生理状况:婴儿猝死综合征风险增加的影响。
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-07-31 DOI: 10.1016/j.smrv.2024.101990
Rosemary SC. Horne , Inge Harrewijn , Carl E. Hunt

Approximately 15 million babies are born preterm (<37 weeks of completed gestation) worldwide annually. Although neonatal and perinatal medicine have contributed to the increased survival rate of preterm newborn infants, premature infants are at increased risk of mortality in the first years of life.

Infants born preterm are at four times the risk of Sudden Infant Death Syndrome (SIDS) compared to infants born at term. SIDS is believed to be multifactorial in origin. The Triple Risk hypothesis has been proposed to explain this. The model suggests that when a vulnerable infant, such as one born preterm, is at a critical but unstable developmental period in homeostatic control, death may occur if exposed to an exogenous stressor, such as being placed prone for sleep. The highest risk period is at ages 2–4 months, with 90 % of deaths occurring before 6 months. The final pathway to SIDS is widely believed to involve some combination of immature cardiorespiratory control and a failure of arousal from sleep. This review will focus on the physiological factors which increase the risk for SIDS in preterm infants and how these factors may be identified and potentially lead to effective preventative strategies.

大约有 1500 万早产儿 (
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引用次数: 0
Effects of school start time and its interaction with the solar clock on adolescents’ chronotype and sleep: A systematic review and meta-analysis 开学时间及其与太阳钟的相互作用对青少年时间型和睡眠的影响:系统综述和元分析
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-07-26 DOI: 10.1016/j.smrv.2024.101988
Guadalupe Rodríguez Ferrante , Florencia Lee , María Juliana Leone

Adolescents' late chronotypes colliding with early school start times (SSTs) are associated with students' unhealthy sleep habits. Most studies comparing different SSTs associate later SSTs with longer sleep duration and lower social jetlag. However, the magnitude of the effect varies between studies and the effect of different SSTs on chronotype is not well established. Importantly, although human circadian rhythms are entrained by sunlight, when studying the effect of different SSTs on adolescents' sleep habits usually only the social clock, and not the solar clock, is considered. This meta-analysis investigates whether later SSTs affect adolescents’ sleep habits and chronotype and it assesses factors that can modulate this effect, including the relative importance of social and solar clocks. Here, through a database search we identify 37 studies comparing the effect of different SSTs on adolescents' sleep habits and/or chronotype. Random effect meta-analyses showed that later SSTs are associated with later sleep timings and longer sleep duration on weekdays, lower levels of social jetlag, and later chronotypes. Several meta-regressions reveal that the distance between compared SSTs and the interplay between SSTs and the solar clock modulate the effect of different SSTs on sleep timings and duration on weekdays.

青少年的晚年型与较早的开学时间(SST)相冲突,这与学生不健康的睡眠习惯有关。大多数比较不同时间类型的研究都认为,较晚的时间类型与较长的睡眠时间和较低的社会时差有关。然而,不同研究的影响程度各不相同,而且不同的 SST 对时间型的影响也没有得到很好的证实。重要的是,虽然人类的昼夜节律受日光影响,但在研究不同的夏季高温对青少年睡眠习惯的影响时,通常只考虑社会时钟,而不考虑太阳时钟。本荟萃分析调查了较晚的夏季高温是否会影响青少年的睡眠习惯和昼夜节律型,并评估了可以调节这种影响的因素,包括社会时钟和太阳时钟的相对重要性。在此,我们通过数据库搜索确定了 37 项研究,这些研究比较了不同标准时间对青少年睡眠习惯和/或时间型的影响。随机效应荟萃分析表明,较晚的太阳活动时间与较晚的睡眠时间和较长的平日睡眠时间、较低的社会时差水平以及较晚的时间型有关。几项元回归分析表明,所比较的太平洋标准大气压之间的距离以及太平洋标准大气压与太阳时钟之间的相互作用,会调节不同的太平洋标准大气压对平日睡眠时间和睡眠持续时间的影响。
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引用次数: 0
Rethinking clinical trials in restless legs syndrome: A roadmap 重新思考不宁腿综合征的临床试验:路线图
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-07-18 DOI: 10.1016/j.smrv.2024.101978
Diego Garcia-Borreguero , Jed Black , Christopher J. Earley , Stephany Fulda , Birgit Högl , Mauro Manconi , William Ondo , Thomas Roth , Claudia Trenkwalder , John W. Winkelman , on behalf of the International Restless Legs Syndrome Study Group (IRLSSG)

The number of large clinical trials of restless legs syndrome (RLS) have decreased in recent years, this coincides with reduced interest in developing and testing novel pharmaceuticals. Therefore, the International Restless Legs Syndrome Study Group (IRLSSG) formed a task force of global experts to examine the causes of these trends and make recommendations to facilitate new clinical trials. In our article, we delve into potential complications linked to the diagnostic definition of RLS, identify subpopulations necessitating more attention, and highlight issues pertaining to endpoints and study frameworks. In particular, we recommend developing alternative scoring methods for more accurate RLS diagnosis, thereby improving clinical trial specificity. Furthermore, enhancing the precision of endpoints will increase study effect sizes and mitigate study costs. Suggestions to achieve this include developing online, real-time sleep diaries with high-frequency sampling of nightly sleep latency and the use of PLMs as surrogate markers. Furthermore, to reduce the placebo response, strategies should be adopted that include placebo run-in periods. As RLS is frequently a chronic condition, priority should be given to long-term studies, using a randomized, placebo-controlled, withdrawal design. Lastly, new populations should be investigated to develop targeted treatments such as mild RLS, pregnancy, hemodialysis, or iron-deficient anemia.

近年来,针对不安腿综合征(RLS)的大型临床试验数量有所减少,这与开发和测试新型药物的兴趣降低不谋而合。因此,国际不安腿综合征研究小组(IRLSSG)成立了一个由全球专家组成的特别工作组,研究这些趋势的原因并提出建议,以促进新的临床试验。在文章中,我们深入探讨了与 RLS 诊断定义相关的潜在并发症,确定了需要更多关注的亚人群,并强调了与终点和研究框架相关的问题。特别是,我们建议开发其他评分方法,以更准确地诊断 RLS,从而提高临床试验的特异性。此外,提高终点的精确度将增加研究的效应大小并降低研究成本。为此提出的建议包括开发在线实时睡眠日记,对夜间睡眠潜伏期进行高频采样,以及使用 PLM 作为替代标记物。此外,为减少安慰剂反应,应采取包括安慰剂运行期的策略。由于 RLS 通常是一种慢性疾病,因此应优先考虑采用随机、安慰剂对照、停药设计的长期研究。最后,应研究新的人群以开发有针对性的治疗方法,如轻度 RLS、妊娠、血液透析或缺铁性贫血。
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引用次数: 0
Primary snoring: Bridging gaps in management and research 原发性鼾症:缩小管理和研究方面的差距
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-07-15 DOI: 10.1016/j.smrv.2024.101979
Ahmed S. BaHammam
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引用次数: 0
Cerebral blood flow in sleep: A systematic review and meta-analysis 睡眠中的脑血流量:系统回顾与元分析
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-07-14 DOI: 10.1016/j.smrv.2024.101977
Rushd F.M. Al-Shama , Jeroen F. Uleman , Mariana Pereira , Jurgen A.H.R. Claassen , Martin Dresler

Sleep plays an essential role in physiology, allowing the brain and body to restore itself. Despite its critical role, our understanding of the underlying processes in the sleeping human brain is still limited. Sleep comprises several distinct stages with varying depths and temporal compositions. Cerebral blood flow (CBF), which delivers essential nutrients and oxygen to the brain, varies across brain regions throughout these sleep stages, reflecting changes in neuronal function and regulation.

This systematic review and meta-analysis assesses global and regional CBF across sleep stages. We included, appraised, and summarized all 38 published sleep studies on CBF in healthy humans that were not or only slightly (<24 h) sleep deprived. Our main findings are that CBF varies with sleep stage and depth, being generally lowest in NREM sleep and highest in REM sleep. These changes appear to stem from sleep stage-specific regional brain activities that serve particular functions, such as alterations in consciousness and emotional processing.

睡眠在生理学中发挥着至关重要的作用,它能让大脑和身体自我恢复。尽管睡眠起着至关重要的作用,但我们对睡眠中人脑基本过程的了解仍然有限。睡眠包括几个不同的阶段,其深度和时间组成各不相同。脑血流量(CBF)为大脑输送必需的营养和氧气,在这些睡眠阶段中,脑部各区域的脑血流量各不相同,反映了神经元功能和调节的变化。我们收录、评估并总结了所有 38 项已发表的有关健康人 CBF 的睡眠研究,这些健康人没有或仅有轻微(24 小时)睡眠不足。我们的主要发现是,CBF 随睡眠阶段和深度而变化,通常在 NREM 睡眠中最低,而在 REM 睡眠中最高。这些变化似乎源于特定睡眠阶段的大脑区域活动,这些活动具有特定的功能,如意识和情绪处理的改变。
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引用次数: 0
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Sleep Medicine Reviews
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