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Phenomenology and psychiatric correlates of pseudocataplexy. 假性共济失调的现象学和精神病学相关性。
IF 5.3 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-11-08 DOI: 10.1093/sleep/zsad234
Marco Menchetti, Francesco Biscarini, Giombattista Sallemi, Elena Antelmi, Christian Franceschini, Stefano Vandi, Giulia Neccia, Valentina Baldini, Giuseppe Plazzi, Fabio Pizza

Study objectives: Pseudocataplexy is a rare functional neurological disorder that mimics cataplexy, pathognomonic for narcolepsy type 1 (NT1). We describe the psychiatric comorbidity and personality traits of patients with pseudocataplexy versus NT1 cases.

Methods: The case-control observational study enrolled consecutive patients with pseudocataplexy and a control group of age-matched consecutive NT1 patients. The diagnostic work-up included a structured interview, 48-hour polysomnography, multiple sleep latency test, cataplexy provoking test, and hypocretin-1 measurement in cerebrospinal fluid. All participants were administered Beck Depression Inventory, State-Trait Anxiety Inventory, Patient Health Questionnaire-15 (PHQ-15), Personality Inventory for DSM-5 brief form, and quality-of-life (QoL) measurement by 36-item Short Form health survey (SF-36).

Results: Fifteen patients with pseudocataplexy and 30 with NT1 were included. Despite the suspicion of possible cataplexy, none of the pseudocataplexy participants fulfilled international diagnostic criteria for NT1. Pseudocataplexy patients presented higher rates of moderate state anxiety (40% vs. 10%, p = 0.018), medium level of somatic symptoms, defined by PHQ-15 score > 10 (66.7% vs. 16.7%, p = 0.003), and a trend towards moderate-to-severe depressive symptoms (33.3% vs. 10%, p = 0.054) compared to NT1. No significant differences in personality traits emerged. Pseudocataplexy patients had worse QoL profiles in almost all SF-36 domains including physical (mean ± SD: 37.7 ± 9.88 vs. 51.13 ± 7.81, p < 0.001) and mental (mean ± SD: 33.36 ± 12.69 vs.42.76 ± 11.34, p = 0.02) summary scores.

Conclusions: Patients with pseudocataplexy present more severe psychiatric symptoms and a lower QoL profile in comparison with patients with NT1. The severe somatoform and affection impairment in pseudocataplexy may explain the poorer QoL and should require a tailored therapeutic approach.

研究目的:假性猝倒是一种罕见的功能性神经系统疾病,类似于猝倒,是1型发作性睡病(NT1)的病理特征。我们描述了假性共济失调患者与NT1患者的精神共病和个性特征。方法:病例对照观察研究纳入了连续的假性共济失调患者和年龄匹配的连续NT1患者的对照组。诊断检查包括结构化访谈、48小时多导睡眠图、多次睡眠潜伏期测试、诱发猝倒测试和脑脊液中的低视网膜蛋白-1测量。所有参与者都接受了Beck抑郁量表、状态特质焦虑量表、患者健康问卷-15(PHQ-15)、DSM-5简式人格量表和36项简式健康调查(SF-36)的生活质量测量。结果:包括15例假性共济失调患者和30例NT1患者。尽管怀疑可能有猝倒,但没有一名假性猝倒参与者符合NT1的国际诊断标准。与NT1相比,假性猝倒患者表现出更高的中度焦虑率(40%对10%,p=0.018)、中等水平的躯体症状(PHQ-15评分>10)(66.7%对16.7%,p=0.003),以及中度至重度抑郁症状的趋势(33.3%对10%,p=0.054)。人格特征没有出现显著差异。假性中风患者在几乎所有SF-36领域的生活质量状况都较差,包括身体(平均值±标准差:37.7±9.88 vs.51.13±7.81,P结论:与NT1患者相比,假性中风患者表现出更严重的精神症状和更低的生活质量。假性共济失调的严重体型和情感障碍可能解释了生活质量较差的原因,应该需要量身定制的治疗方法。
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引用次数: 0
Restless legs syndrome in patients with epilepsy: risk analysis, polysomnography, and quality of life evaluation. 癫痫患者的不安腿综合征:风险分析、多导睡眠图和生活质量评估。
IF 5.6 2区 医学 Q1 Medicine Pub Date : 2024-06-13 DOI: 10.1093/sleep/zsad054
Ying-Sheng Li, Wei-Chih Yeh, Ya-Hsien Chang, Chung-Yao Hsu

Study objectives: Restless legs syndrome (RLS) is a circadian rhythm related sensorimotor disorder due to brain iron deficiency, with lesion sites at the putamen and substantia nigra. However, epilepsy is a disease with abnormal electric discharge from the cortex and can be triggered with iron disequilibrium. We designed a case-control study to discover the association between epilepsy and RLS.

Methods: A total of 24 patients with epilepsy and RLS and 72 patients with epilepsy without RLS were included. Most of the patients underwent polysomnography and video electroencephalogram tests and took sleep questionnaires. We collected information on seizure characteristics, including general or focal onset, epileptogenic focus, current antiseizure medications, medically responsive epilepsy or refractory epilepsy, and nocturnal attacks. The sleep architectures of the two groups were compared. We analyzed the risk factors for RLS using multivariate logistic regression.

Results: Among the patients with epilepsy, the occurrence of RLS was associated with refractory epilepsy (OR 6.422, p = 0.002) and nocturnal seizures (OR 4.960, p = 0.005). Sleep parameters were not significantly associated with RLS status. Quality of life was significantly impaired in the group with RLS in both the physical and mental domains.

Conclusions: Refractory epilepsy and nocturnal seizures were strongly correlated with RLS in patients with epilepsy. RLS should be considered a predictable comorbidity in patients with epilepsy. The management of RLS not only led to better control of the patient's epilepsy but also improved their quality of life.

研究目的:不宁腿综合征(RLS)是一种与昼夜节律相关的感觉运动失调症,是由于大脑缺铁引起的,病变部位位于普鲁士门和黑质。然而,癫痫是一种大脑皮层异常放电的疾病,铁失衡也可能诱发癫痫。我们设计了一项病例对照研究,以发现癫痫与 RLS 之间的关联:方法:共纳入 24 名癫痫合并 RLS 患者和 72 名癫痫但无 RLS 的患者。大部分患者接受了多导睡眠图和视频脑电图测试,并进行了睡眠问卷调查。我们收集了有关癫痫发作特征的信息,包括全身性或局灶性发作、致痫灶、目前服用的抗癫痫药物、药物反应性癫痫或难治性癫痫以及夜间发作。我们对两组患者的睡眠结构进行了比较。我们使用多变量逻辑回归分析了RLS的风险因素:结果:在癫痫患者中,RLS的发生与难治性癫痫(OR 6.422,P = 0.002)和夜间发作(OR 4.960,P = 0.005)相关。睡眠参数与 RLS 状态无明显关联。RLS患者的生活质量在身体和精神方面都明显下降:结论:难治性癫痫和夜间癫痫发作与癫痫患者的 RLS 密切相关。应将 RLS 视为癫痫患者的一种可预测的并发症。对 RLS 的治疗不仅能更好地控制患者的癫痫,还能改善他们的生活质量。
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引用次数: 0
Sleep apnea, hypoxia, and late-onset epilepsy: the Atherosclerosis Risk in Communities study. 睡眠呼吸暂停、缺氧和迟发性癫痫:社区动脉粥样硬化风险研究。
IF 5.3 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-06-13 DOI: 10.1093/sleep/zsad233
Christopher M Carosella, Rebecca F Gottesman, Anna Kucharska-Newton, Pamela L Lutsey, Adam P Spira, Naresh M Punjabi, Andrea L C Schneider, Kelsie M Full, Emily L Johnson

Study objective: Sleep apnea is associated with unexplained epilepsy in older adults in small studies. We sought to determine the relationship between sleep apnea and additional sleep characteristics and late-onset epilepsy (LOE), adjusting for comorbidities, using data from the large, prospective Atherosclerosis Risk in Communities (ARIC) Study cohort.

Methods: We used Medicare claims to identify cases of LOE in ARIC participants. We used polysomnography data from 1309 ARIC participants who also participated in the Sleep Heart Health Study in 1995-1998, and demographic and comorbidity data from ARIC. Later risk of LOE was evaluated using survival analysis with a competing risk of death. We also used survival analysis in 2672 ARIC participants to identify the association between self-reported obstructive sleep apnea (2011-2013), and the risk of subsequent LOE.

Results: Late-midlife oxygen desaturation to less than 80% during sleep was associated with subsequent development of LOE, adjusted subhazard ratio 3.28 (1.18-9.08), but the apnea-hypopnea index was not related. Participant report of diagnosis of sleep apnea in 2011-2013 was also associated with subsequent LOE, adjusted subhazard ratio 2.59 (1.24-5.39).

Conclusions: Sleep apnea and oxygen saturation nadir during sleep are associated with LOE, independently of hypertension and other comorbidities. These potentially modifiable risk factors could have large clinical implications for LOE.

研究目的:在小型研究中,睡眠呼吸暂停与老年人不明原因癫痫有关。我们试图利用来自大型前瞻性社区动脉粥样硬化风险(ARIC)研究队列的数据,确定睡眠呼吸暂停与额外睡眠特征和晚发性癫痫之间的关系,并对合并症进行调整。方法:我们使用医疗保险索赔来确定ARIC参与者的迟发性癫痫(LOE)病例。我们使用了1309名参与1995-1998年睡眠心脏健康研究的ARIC参与者的多导睡眠图数据,以及ARIC的人口统计学和共病数据。LOE的后期风险使用生存分析和竞争性死亡风险进行评估。我们还对2672名ARIC参与者进行了生存分析,以确定自我报告的阻塞性睡眠呼吸暂停(2011-2013)与随后LOE风险之间的关系。结果:中年晚期睡眠时氧饱和度降低至80%以下与随后LOE的发展有关,调整后的亚氮杂比为3.28(1.18-9.08),但呼吸暂停低通气指数无关。2011-2013年诊断为睡眠呼吸暂停的参与者报告也与随后的LOE相关,调整后的亚氮杂比为2.59(1.24-5.39)。结论:睡眠呼吸暂停和睡眠中的氧饱和度最低点与LOE有关,与高血压和其他合并症无关。这些潜在的可改变的风险因素可能对LOE有很大的临床意义。
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引用次数: 0
Altered neuronal response to visual food stimuli in adolescents undergoing chronic sleep restriction. 长期限制睡眠的青少年对视觉食物刺激的神经元反应发生改变
IF 5.6 2区 医学 Q1 Medicine Pub Date : 2024-04-12 DOI: 10.1093/sleep/zsad036
Mark W DiFrancesco, Maryam Alsameen, Marie-Pierre St-Onge, Kara M Duraccio, Dean W Beebe

Study objectives: Poor sleep in adolescents can increase the risk of obesity, possibly due to changes in dietary patterns. Prior neuroimaging evidence, mostly in adults, suggests that lacking sleep results in increased response to food cues in reward-processing brain regions. Needed is a clarification of the mechanisms by which food reward processing is altered by the kind of chronic sleep restriction (SR) typically experienced by adolescents. This study aimed to elucidate the impact of sleep duration on response to visual food stimuli in healthy adolescents using functional neuroimaging, hypothesizing increased reward processing response after SR compared to a well-rested condition.

Methods: Thirty-nine healthy adolescents, 14-17 years old, completed a 3-week protocol: (1) sleep phase stabilization; (2) SR (~6.5 h nightly); and (3) healthy sleep (HS) duration (~9 h nightly). Participants underwent functional MRI while performing a visual food paradigm. Contrasts of food versus nonfood responses were compared within-subject between conditions of SR and HS.

Results: Under SR, there was a greater response to food stimuli compared to HS in a voxel cluster including the left ventral tegmental area and substantia nigra. No change in food appeal rating due to the sleep manipulation was detected.

Conclusions: Outcomes of this study suggest that SR, as commonly experienced by healthy adolescents, results in the elevated dopaminergic drive of the reward network that may augment motivation to seek food in the context of individual food appeal and inhibitory profiles. Countermeasures that reduce food salience could include promoting consistent HS habits.

研究目的青少年睡眠不足会增加肥胖的风险,这可能是由于饮食模式发生了变化。先前的神经影像学证据表明,缺乏睡眠会导致大脑奖赏处理区域对食物线索的反应增强,而这些证据大多是在成人身上获得的。需要澄清的是,青少年通常经历的那种长期睡眠限制会改变食物奖赏处理的机制。本研究旨在利用功能神经影像学阐明睡眠时间长短对健康青少年视觉食物刺激反应的影响,假设与休息良好的状态相比,睡眠限制后奖赏处理反应增加:39名14-17岁的健康青少年完成了为期3周的方案:1)稳定睡眠阶段;2)睡眠限制(每晚约 6.5 小时);3)健康睡眠时间(每晚约 9 小时)。参与者在进行视觉食物范式时接受了功能性核磁共振成像。结果发现,在睡眠限制和健康睡眠条件下,食物与非食物反应的对比在受试者内部进行了比较:结果:与健康睡眠相比,在睡眠限制条件下,包括左侧腹侧被盖区和黑质在内的体素群对食物刺激的反应更大。结论:该研究结果表明,睡眠限制对食物的吸引力没有影响:本研究结果表明,健康青少年通常会经历的睡眠限制会导致奖赏网络的多巴胺能驱动力升高,这可能会在个人食物吸引力和抑制特征的背景下增强寻求食物的动机。降低食物显著性的对策可包括促进始终如一的健康睡眠习惯。
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引用次数: 0
Effects of sleep fragmentation on white matter pathology in a rat model of cerebral small vessel disease. 睡眠片段对脑小血管疾病大鼠模型白质病理学的影响
IF 5.6 2区 医学 Q1 Medicine Pub Date : 2024-04-12 DOI: 10.1093/sleep/zsad225
Xiang Fu, Xiao-Jie Wan, Jun-Yi Liu, Qian Sun, Yun Shen, Jie Li, Cheng-Jie Mao, Quan-Hong Ma, Fen Wang, Chun-Feng Liu

Study objectives: Mounting evidence indicated the correlation between sleep and cerebral small vessel disease (CSVD). However, little is known about the exact causality between poor sleep and white matter injury, a typical signature of CSVD, as well as the underlying mechanisms.

Methods: Spontaneously hypertensive rats (SHR) and control Wistar Kyoto rats were subjected to sleep fragmentation (SF) for 16 weeks. The effects of chronic sleep disruption on the deep white matter and cognitive performance were observed.

Results: SHR were validated as a rat model for CSVD. Fragmented sleep induced strain-dependent white matter abnormalities, characterized by reduced myelin integrity, impaired oligodendrocytes precursor cells (OPC) maturation and pro-inflammatory microglial polarization. Partially reversible phenotypes of OPC and microglia were observed in parallel following sleep recovery.

Conclusions: Long-term SF-induced pathological effects on the deep white matter in a rat model of CSVD. The pro-inflammatory microglial activation and the block of OPC maturation may be involved in the mechanisms linking sleep to white matter injury.

研究目的:越来越多的证据表明睡眠与脑小血管疾病(CSVD)之间存在关联。然而,人们对睡眠质量差与脑白质损伤(CSVD的典型特征)之间的确切因果关系及其内在机制知之甚少:方法:对自发性高血压大鼠(SHR)和对照组 Wistar Kyoto 大鼠进行为期 16 周的睡眠中断试验。观察慢性睡眠中断对深部白质和认知能力的影响:结果:SHR 被确认为 CSVD 的大鼠模型。睡眠片段诱导了应变依赖性白质异常,其特征是髓鞘完整性降低、少突胶质前体细胞(OPC)成熟受损和促炎性小胶质细胞极化。在睡眠恢复后,可同时观察到OPC和小胶质细胞的部分可逆表型:结论:在 CSVD 大鼠模型中,长期 SF 会对深部白质产生病理影响。促炎性小胶质细胞活化和 OPC 成熟受阻可能与睡眠和白质损伤的关联机制有关。
{"title":"Effects of sleep fragmentation on white matter pathology in a rat model of cerebral small vessel disease.","authors":"Xiang Fu, Xiao-Jie Wan, Jun-Yi Liu, Qian Sun, Yun Shen, Jie Li, Cheng-Jie Mao, Quan-Hong Ma, Fen Wang, Chun-Feng Liu","doi":"10.1093/sleep/zsad225","DOIUrl":"10.1093/sleep/zsad225","url":null,"abstract":"<p><strong>Study objectives: </strong>Mounting evidence indicated the correlation between sleep and cerebral small vessel disease (CSVD). However, little is known about the exact causality between poor sleep and white matter injury, a typical signature of CSVD, as well as the underlying mechanisms.</p><p><strong>Methods: </strong>Spontaneously hypertensive rats (SHR) and control Wistar Kyoto rats were subjected to sleep fragmentation (SF) for 16 weeks. The effects of chronic sleep disruption on the deep white matter and cognitive performance were observed.</p><p><strong>Results: </strong>SHR were validated as a rat model for CSVD. Fragmented sleep induced strain-dependent white matter abnormalities, characterized by reduced myelin integrity, impaired oligodendrocytes precursor cells (OPC) maturation and pro-inflammatory microglial polarization. Partially reversible phenotypes of OPC and microglia were observed in parallel following sleep recovery.</p><p><strong>Conclusions: </strong>Long-term SF-induced pathological effects on the deep white matter in a rat model of CSVD. The pro-inflammatory microglial activation and the block of OPC maturation may be involved in the mechanisms linking sleep to white matter injury.</p>","PeriodicalId":49514,"journal":{"name":"Sleep","volume":null,"pages":null},"PeriodicalIF":5.6,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10075521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sleep disturbances and change in multiple cognitive domains among older adults: a multicenter study of five Nordic cohorts. 老年人睡眠障碍与多个认知领域的变化:一项针对五个北欧队列的多中心研究。
IF 5.6 2区 医学 Q1 Medicine Pub Date : 2024-03-11 DOI: 10.1093/sleep/zsad244
Marieclaire Overton, Johan Skoog, Erika J Laukka, Timothy Hadarsson Bodin, Alexander Darin Mattsson, Linnea Sjöberg, Scott M Hofer, Lena Johansson, Jenni Kulmala, Miia Kivipelto, Alina Solomon, Ingmar Skoog, Ingemar Kåreholt, Shireen Sindi

Study objectives: We examined and compared cross-sectional and longitudinal associations between self-reported sleep disturbances and various cognitive domains in five separate Nordic European longitudinal aging studies (baseline N = 5631, mean age = 77.7, mean follow-up = 4.16 years).

Methods: Comparable sleep parameters across studies included reduced sleep duration/quality, insomnia symptoms (sleep latency, waking up at night, and early awakenings), short and long sleep duration, and daytime napping. The cognitive domains were episodic memory, verbal fluency, perceptual speed, executive functioning, and global cognition (aggregated measure). A series of mixed linear models were run separately in each study and then compared to assess the level and rate of change in cognitive functioning across each sleep disturbance parameter. Models were adjusted for age, sex, education, hypnotic usage, depressive symptoms, lifestyle factors, cardiovascular, and metabolic conditions. By using a coordinated analytic approach, comparable construct-level measurements were generated, and results from identical statistical models were qualitatively compared across studies.

Results: While the pattern of statistically significant results varied across studies, subjective sleep disturbances were consistently associated with worse cognition and steeper cognitive decline. Insomnia symptoms were associated with poorer episodic memory and participants sleeping less or more than 7-8 hours had a steeper decline in perceptual speed. In addition, daytime napping (>2 hours) was cross-sectionally and longitudinally associated with all examined cognitive domains. Most observed associations were study-specific (except for daytime napping), and a majority of association estimates remained significant after adjusting for covariates.

Conclusion: This rigorous multicenter investigation further supports the importance of sleep disturbance, including insomnia, long and short sleep duration, and daytime napping on baseline cognitive functioning and rate of change among older adults. These sleep factors may be targeted in future lifestyle interventions to reduce cognitive decline.

研究目标我们在五项独立的北欧老龄化纵向研究(基线人数=5631,平均年龄=77.7,平均随访时间=4.16年)中,检查并比较了自我报告的睡眠障碍与各种认知领域之间的横向和纵向关联:各项研究中可比的睡眠参数包括睡眠时间缩短/质量下降、失眠症状(睡眠潜伏期、夜间醒来和早醒)、睡眠时间长短和白天打盹。认知领域包括外显记忆、语言流畅性、感知速度、执行功能和整体认知(综合测量)。在每项研究中分别运行一系列混合线性模型,然后进行比较,以评估认知功能在不同睡眠障碍参数下的变化水平和速度。模型对年龄、性别、教育程度、催眠药使用情况、抑郁症状、生活方式因素、心血管和代谢状况进行了调整。通过使用协调分析方法,产生了可比较的结构水平测量结果,并对不同研究中相同统计模型的结果进行了定性比较:结果:虽然不同研究得出的具有统计学意义的结果模式各不相同,但主观睡眠障碍始终与认知能力下降和认知能力急剧下降相关。失眠症状与较差的外显记忆有关,睡眠时间少于或超过 7-8 小时的参与者感知速度下降更快。此外,白天小睡(>2 小时)与所有检查的认知领域都有横向和纵向联系。大多数观察到的关联是研究特异性的(白天小睡除外),在调整协变量后,大多数关联估计值仍然显著:这项严谨的多中心调查进一步证实了睡眠障碍(包括失眠、睡眠时间长和短以及白天小睡)对老年人基线认知功能和变化率的重要性。在未来的生活方式干预中,这些睡眠因素可能会成为减少认知功能下降的目标。
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引用次数: 0
Life stress and suicidality mediated by insomnia and depressive symptoms in adolescents: a three-wave longitudinal study. 以青少年失眠和抑郁症状为中介的生活压力和自杀倾向:三波纵向研究。
IF 5.6 2区 医学 Q1 Medicine Pub Date : 2024-03-11 DOI: 10.1093/sleep/zsad121
Xianchen Liu, Yanyun Yang, Zhen-Zhen Liu, Cun-Xian Jia

Study objectives: Little empirical work has investigated the associations between life stress (LS), insomnia, depression, and suicidality in multi-wave longitudinal studies. With three waves of data collection 1-year apart, this longitudinal study with a large sample of adolescents examined the predicting effects of LS on suicidality 1-year later and 2 years later and the mediating roles of insomnia and depression in the LS-suicidality link.

Methods: A total of 6995 adolescents (mean age = 14.86 years, 51.4% male) participated in a three-wave longitudinal study of behavior and health in Shandong, China. A self-administered structured questionnaire and standardized scales were used to assess suicidality (including suicidal thought [ST], suicide plan [SP], and suicide attempt [SA]), LS, insomnia, and depression in 2015 (T1), 1-year later (T2), and 2 years later (T3). Mediation effects were examined with path models.

Results: The overall prevalence rates of past-year suicidality were 13.4% at T1, 10.0% at T2, and 9.5% at T3, respectively. The prevalence rates of suicidality across T1-T3 significantly increased with elevated levels of baseline LS, insomnia, and depression (p < .001). Path models indicated that the relationship between baseline LS and suicidal ideation (i.e., ST/SP) 2 years later was significantly mediated by both insomnia and depression. Depression was also a significant mediator between LS and SA.

Conclusions: LS is a significant predictor of suicidality 1-2 years later in adolescents. Depression mediates the association between LS and suicidal ideation and suicide attempt while insomnia appears to be a mediator for suicidal ideation rather than suicide attempt.

研究目的:在多波纵向研究中,很少有实证研究调查生活压力(LS)、失眠、抑郁和自杀之间的关联。本纵向研究通过相隔一年的三波数据收集,对大量青少年样本进行了研究,考察了生活压力对一年后和两年后自杀倾向的预测作用,以及失眠和抑郁在生活压力-自杀倾向之间的中介作用:共有6995名青少年(平均年龄=14.86岁,51.4%为男性)参加了在中国山东进行的三波行为与健康纵向研究。研究采用自填式结构化问卷和标准化量表对2015年(T1)、1年后(T2)和2年后(T3)的自杀倾向(包括自杀想法[ST]、自杀计划[SP]和自杀未遂[SA])、LS、失眠和抑郁进行了评估。通过路径模型检验了中介效应:过去一年自杀的总体发生率在T1、T2和T3分别为13.4%、10.0%和9.5%。随着基线 LS、失眠和抑郁水平的升高,T1-T3 期的自杀率显著增加(p 结论:LS 是自杀的重要预测因素:LS是青少年1-2年后出现自杀倾向的重要预测因素。抑郁是LS与自杀意念和自杀未遂之间关系的中介,而失眠似乎是自杀意念而非自杀未遂的中介。
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引用次数: 0
Identification of novel loci in obstructive sleep apnea in European American and African American children. 在欧洲裔美国人和非洲裔美国人儿童中鉴定阻塞性睡眠呼吸暂停的新基因位点。
IF 5.6 2区 医学 Q1 Medicine Pub Date : 2024-03-11 DOI: 10.1093/sleep/zsac182
Courtney M Quinlan, Xiao Chang, Michael March, Frank D Mentch, Hui-Qi Qu, Yichuan Liu, Joseph Glessner, Patrick M A Sleiman, Hakon Hakonarson

Study objectives: To identify genetic susceptibility variants in pediatric obstructive sleep apnea in European American and African American children.

Methods: A phenotyping algorithm using electronic medical records was developed to recruit cases with OSA and control subjects from the Center for Applied Genomics at Children's Hospital of Philadelphia (CHOP). Genome-wide association studies (GWAS) were performed in pediatric OSA cases and control subjects with European American (EA) and African American (AA) ancestry followed by meta-analysis and sex stratification.

Results: The algorithm accrued 1486 subjects (46.3% European American, 53.7% African American). We identified genomic loci at 1p36.22 and 15q26.1 that associated with OSA risk in EA and AA, respectively. We also revealed a shared risk locus at 18p11.32 (rs114124196, p = 1.72 × 10-8) across EA and AA populations. Additionally, association at 1q43 (rs12754698) and 2p25.1 (rs72775219) was identified in the male-only analysis of EA children with OSA, while association at 8q21.11 (rs6472959), 11q24.3 (rs4370952) and 15q21.1 (rs149936782) was detected in the female-only analysis of EA children and association at 18p11.23 (rs9964029) was identified in the female-only analysis of African-American children. Moreover, the 18p11.32 locus was replicated in an EA cohort (rs114124196, p = 8.8 × 10-3).

Conclusions: We report the first GWAS for pediatric OSA in European Americans and African Americans. Our results provide novel insights to the genetic underpins of pediatric OSA.

研究目的确定欧洲裔美国儿童和非洲裔美国儿童患小儿阻塞性睡眠呼吸暂停的遗传易感性变异:对具有欧洲裔美国人(EA)和非洲裔美国人(AA)血统的小儿OSA病例和对照受试者进行全基因组关联研究(GWAS),然后进行荟萃分析和性别分层:该算法共收集了 1,486 名受试者(46.3% 为欧洲裔美国人,53.7% 为非洲裔美国人)。我们确定了 1p36.22 和 15q26.1 基因组位点,这两个位点分别与欧裔美国人和非裔美国人的 OSA 风险有关。我们还在 EA 和 AA 人群中发现了一个位于 18p11.32 的共享风险位点(rs114124196,P =1.72 ×10 -8)。此外,在对患有 OSA 的 EA 儿童进行的男性分析中,发现了 1q43 (rs12754698) 和 2p25.1 (rs72775219),而 8q21.11 (rs6472959)、11q24.3 (rs4370952) 和 15q21.1 (rs149936782) 的关联,而在对非裔美国儿童进行的女性分析中则发现了 18p11.23 (rs9964029) 的关联。此外,18p11.32位点在EA队列中得到了复制(rs114124196,P =8.8 ×10 -3):我们报告了首个针对欧洲裔美国人和非洲裔美国人小儿 OSA 的 GWAS。结论:我们首次报告了欧洲裔美国人和非洲裔美国人小儿 OSA 的 GWAS,我们的研究结果为小儿 OSA 的遗传基础提供了新的见解。
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引用次数: 0
Unilateral optogenetic stimulation of Lhx6 neurons in the zona incerta increases REM sleep. 单侧光遗传刺激印堂区的 Lhx6 神经元可增加快速动眼期睡眠
IF 5.3 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-03-11 DOI: 10.1093/sleep/zsad217
Aurelio Vidal-Ortiz, Carlos Blanco-Centurion, Priyattam J Shiromani

To determine how a waking brain falls asleep researchers have monitored and manipulated activity of neurons and glia in various brain regions. While imaging Gamma-Aminobutyric Acid (GABA) neurons in the zona incerta (ZI) we found a subgroup that anticipates onset of NREM sleep (Blanco-Centurion C, Luo S, Vidal-Ortiz A, Swank C, Shiromani PJ. Activity of a subset of vesicular GABA-transporter neurons in the ventral ZI anticipates sleep onset. Sleep. 2021;44(6):zsaa268. doi:10.1093/sleep/zsaa268.). To differentiate the GABA subtype we now image and optogenetically manipulate the ZI neurons containing the transcription factor, Lhx6. In the first study, Lhx6-cre mice (n = 5; female = 4) were given rAAV-DJ-EF1a-DIO-GCaMP6M into the ZI (isofluorane anesthesia), a GRIN lens implanted, and 21days later sleep and fluorescence in individual Lhx6 neurons were recorded for 4 hours. Calcium fluorescence was detected in 132 neurons. 45.5% of the Lhx6 neurons were REM-max; 30.3% were wake-max; 11.4% were wake + REM max; 9% were NREM-max; and 3.8% had no change. The NREM-max group of neurons fluoresced 30 seconds ahead of sleep onset. The second study tested the effects of unilateral optogenetic stimulation of the ZI Lhx6 neurons (n = 14 mice) (AAV5-Syn-FLEX-rc[ChrimsonR-tdTomato]. Stimulation at 1 and 5 Hz (1 minute on- 4 minutes off) significantly increased percent REM sleep during the 4 hours stimulation period (last half of day cycle). The typical experimental approach is to stimulate neurons in both hemispheres, but here we found that low-frequency stimulation of ZI Lhx6 neurons in one hemisphere is sufficient to shift states of consciousness. Detailed mapping combined with mechanistic testing is necessary to identify local nodes that can shift the brain between wake-sleep states.

为了确定清醒的大脑是如何进入睡眠状态的,研究人员对不同脑区的神经元和神经胶质细胞的活动进行了监测和操作。在对内侧透明带(ZI)的 GABA 神经元进行成像时,我们发现了一个亚群,它能预测 NREM 睡眠的开始 1。为了区分 GABA 亚型,我们现在对含有转录因子 Lhx6 的 ZI 神经元进行成像和光遗传操作。在第一项研究中,将rAAV-DJ-EF1a-DIO-GCaMP6M注入ZI(异氟烷麻醉),植入GRIN透镜,21d后记录单个Lhx6神经元的睡眠和荧光4小时。在132个神经元中检测到了钙荧光。45.5%的Lhx6神经元为REM-max;30.3%为Wake-max;11.4%为wake+REM-max;9%为NREM-max;3.8%无变化。NREM-max神经元组在睡眠开始前30秒发出荧光。第二项研究测试了单侧光遗传刺激 ZI Lhx6 神经元(n=14 只小鼠)(AAV5-Syn-FLEX-rc[ChrimsonR-tdTomato])的效果。1赫兹和5赫兹的刺激(1分钟开4分钟关)显著增加了4小时刺激期(一天周期的后半段)的快速眼动睡眠百分比。典型的实验方法是刺激两个半球的神经元,但在这里我们发现,低频刺激一个半球的 ZI Lhx6 神经元足以改变意识状态。有必要绘制详细的地图,并进行机理测试,以确定能够在清醒-睡眠状态之间转换大脑的局部节点。
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引用次数: 0
Scalp and hippocampal sleep correlates of memory function in drug-resistant temporal lobe epilepsy. 耐药性颞叶癫痫患者头皮和海马睡眠与记忆功能的相关性。
IF 5.3 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-02-08 DOI: 10.1093/sleep/zsad228
Véronique Latreille, Tamir Avigdor, John Thomas, Joelle Crane, Viviane Sziklas, Marilyn Jones-Gotman, Birgit Frauscher

Seminal animal studies demonstrated the role of sleep oscillations such as cortical slow waves, thalamocortical spindles, and hippocampal ripples in memory consolidation. In humans, whether ripples are involved in sleep-related memory processes is less clear. Here, we explored the interactions between sleep oscillations (measured as traits) and general episodic memory abilities in 26 adults with drug-resistant temporal lobe epilepsy who performed scalp-intracranial electroencephalographic recordings and neuropsychological testing, including two analogous hippocampal-dependent verbal and nonverbal memory tasks. We explored the relationships between hemispheric scalp (spindles, slow waves) and hippocampal physiological and pathological oscillations (spindles, slow waves, ripples, and epileptic spikes) and material-specific memory function. To differentiate physiological from pathological ripples, we used multiple unbiased data-driven clustering approaches. At the individual level, we found material-specific cerebral lateralization effects (left-verbal memory, right-nonverbal memory) for all scalp spindles (rs > 0.51, ps < 0.01) and fast spindles (rs > 0.61, ps < 0.002). Hippocampal epileptic spikes and short pathological ripples, but not physiological oscillations, were negatively (rs > -0.59, ps < 0.01) associated with verbal learning and retention scores, with left lateralizing and antero-posterior effects. However, data-driven clustering failed to separate the ripple events into defined clusters. Correlation analyses with the resulting clusters revealed no meaningful or significant associations with the memory scores. Our results corroborate the role of scalp spindles in memory processes in patients with drug-resistant temporal lobe epilepsy. Yet, physiological and pathological ripples were not separable when using data-driven clustering, and thus our findings do not provide support for a role of sleep ripples as trait-like characteristics of general memory abilities in epilepsy.

开创性的动物实验证明了睡眠振荡(如皮层慢波、丘脑棘波和海马波纹)在记忆巩固中的作用。在人类中,波纹是否参与了与睡眠相关的记忆过程还不太清楚。在这里,我们对26名患有耐药性颞叶癫痫的成年人进行了头皮-颅内脑电图记录和神经心理学测试,包括两项类似的依赖海马的言语和非言语记忆任务,探讨了睡眠振荡(以性状测量)与一般外显记忆能力之间的相互作用。我们探讨了半球头皮(棘波、慢波)和海马生理性和病理性振荡(棘波、慢波、波纹和癫痫尖峰)与特定材料记忆功能之间的关系。为了区分生理性和病理性波纹,我们使用了多种无偏的数据驱动聚类方法。在个体水平上,我们发现所有头皮棘波(rs > 0.51,ps < 0.01)和快速棘波(rs > 0.61,ps < 0.002)具有特定材料的大脑侧化效应(左侧言语记忆,右侧非言语记忆)。海马癫痫棘波和短病理波纹(而非生理振荡)与言语学习和保持得分呈负相关(rs > -0.59,ps <0.01),并具有左侧化和前-后效应。然而,数据驱动的聚类未能将波纹事件分离成确定的群组。对由此产生的聚类进行的相关性分析表明,这些聚类与记忆得分之间没有任何有意义或显著的关联。我们的研究结果证实了头皮棘波在耐药性颞叶癫痫患者记忆过程中的作用。然而,在使用数据驱动聚类时,生理波纹和病理波纹无法分离,因此我们的研究结果并不支持睡眠波纹作为癫痫患者一般记忆能力的特征。
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引用次数: 0
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