Narcolepsy with intermediate cerebrospinal level of hypocretin-1

SLEEP ◽  
2021 ◽  
Author(s):  
Emanuela Postiglione ◽  
Lucie Barateau ◽  
Fabio Pizza ◽  
Régis Lopez ◽  
Elena Antelmi ◽  
...  

Abstract Study objectives To describe the phenotype of narcolepsy with intermediate cerebrospinal hypocretin-1 levels (CSF hcrt-1). Methods From 1600 consecutive patients with narcolepsy from Bologna and Montpellier sleep centers we selected patients with intermediate CSF hcrt-1 levels (110-200 pg/ml). Clinical, neurophysiological and biological data were contrasted for the presence of cataplexy, HLA-DQB1*06:02, and median CSF hcrt-1 levels (149.34 pg/mL). Results Forty-five (55% males, aged 35 ± 17 years) patients (2.8% of all cases) were included. Thirty-three (73%) were HLA-DQB1*06:02, 29 (64%) reported cataplexy (21, 72.4% with typical features), and 5 (11%) had presumed secondary etiology. Cataplexy was associated with other core narcolepsy symptoms, increased sleep onset REM periods, and nocturnal sleep disruption. Cataplexy and irrepressible daytime sleep were more frequent in HLA DQB1*06:02 positive patients. Lower CSF hcrt-1 levels were associated with hallucinations. Conclusion Narcolepsy with intermediate CSF hcrt-1 level is a rare condition with heterogeneous phenotype. HLA DQB1*06:02 and lower CSF hcrt-1 were associated with typical narcolepsy features, calling for future research to distinguish incomplete from secondary narcolepsy forms.

Author(s):  
Swaroop Rajaraman ◽  
Thomas Ferris

This research addresses a major issue that is receiving growing attention in neonatal intensive care: the importance of uninterrupted sleep to promote healthy cognitive and physical development for NICU patients. This issue is addressed by targeting classic human factors problems with alarms in critical care environments. The focus of this research is in the intersection between alarm problems and problems related to unnecessary disruption of patients’ sleep. An observational study is currently underway at a major metropolitan hospital to document the relationship between alarms and sleep/wake state, highlighting characteristics of alarms and contexts when sleep is disrupted due to clinically insignificant/inactionable alarms and also when nurses’ response to the alarms leads to them intentionally waking the patients when it is unnecessary to do so. Methods for this work are discussed in detail, and preliminary anecdotal findings suggest that apnea and bradycardia are some of the more problematic alarms for unnecessary sleep disruption. Future research plans to address these and other problematic alarms are also discussed.


2017 ◽  
Vol 38 ◽  
pp. 162-163 ◽  
Author(s):  
Gustavo Bruniera Fernandes ◽  
Renata Carvalho Cremaschi ◽  
Dalva Poyares ◽  
Sergio Tufik ◽  
Fernando Morgadinho Coelho

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A58-A59
Author(s):  
Rebecca Burdayron ◽  
Marie-Helene Pennestri ◽  
Elizabeth Keys ◽  
Lianne Tomfohr-Madsen ◽  
Gerald Giesbrecht

Abstract Introduction Poor sleep quality is common during pregnancy and can increase the risk of adverse obstetric and fetal outcomes. Existing research on the association between prenatal sleep and infant sleep is scarce and has focused on other aspects of prenatal sleep such as sleep duration, chronotype, and insomnia symptoms. To our knowledge, no studies have examined the association between prenatal sleep quality and infant sleep outcomes. Thus, this study aimed to investigate whether maternal sleep quality during pregnancy was prospectively associated with infant sleep dimensions, independent of relevant covariates. Methods Participants were a subset of 272 mother-infant dyads enrolled in an ongoing cohort study. Maternal prenatal sleep quality was assessed with the Pittsburgh Sleep Quality Index (PSQI) in early to mid- (M gestational age = 15.12 ± 3.56 weeks) and late- (M gestational age = 32.44 ± 0.99 weeks) pregnancy. Mothers completed the Brief Infant Sleep Questionnaire (BISQ) at 3, 6, and 12 months postpartum. The following infant sleep parameters were assessed: sleep duration (day, night, 24-hour), number of night awakenings, and wake after sleep onset. Prenatal depressive symptoms were assessed with the Edinburgh Postnatal Depression Scale (EPDS) at both pregnancy time points. Other covariates included maternal age at enrollment, infant age, parity, and co-sleeping status. Results Generalized estimating equations (GEE) models revealed that poorer maternal sleep quality during early-to-mid pregnancy did not significantly predict infant sleep parameters after adjustment for covariates (p > .05). However, in late pregnancy, poorer maternal sleep quality significantly predicted shorter 24-hour sleep duration and longer wake after sleep onset, but not daytime sleep duration, nighttime sleep duration, and number of night awakenings (p < .05). Conclusion Study findings advance our understanding of the prospective link between maternal prenatal sleep quality and infant sleep. Results indicate that maternal sleep quality during late gestation may play a role in the development of infant sleep patterns. These findings have important implications for intervention efforts targeting maternal sleep quality during pregnancy. Future research should use objective measures of sleep, such as actigraphy, to better elucidate the effects of prenatal sleep quality on infant sleep outcomes. Support (if any) The Canadian Institutes of Health Research (CIHR)


2011 ◽  
Vol 14 (3) ◽  
pp. 236-241 ◽  
Author(s):  
Amy J. Walker ◽  
Kyle P. Johnson ◽  
Christine Miaskowski ◽  
Vivian Gedaly-Duff

Purpose: The purpose of this descriptive, longitudinal study was to describe objective nocturnal sleep–wake parameters of adolescents at home after receiving chemotherapy in the hospital or outpatient clinic and explore differences in sleep variables by age, gender, and corticosteroid use. Methods: We collected 7 days of wrist actigraphy and sleep diary data from 48 adolescents (10–19 years) who were receiving cancer chemotherapy for a primary or secondary cancer or a relapse. The actigraphic sleep variables included rest interval (i.e., time in bed), sleep onset, sleep offset, sleep duration, total sleep time (TST), wake after sleep onset (WASO), and %WASO. Results: Of the 48 adolescents, 38 had at least five nights of scored actigraphy and were included in analyses. Older (13–18 years) adolescents went to bed later and had fewer minutes of TST than younger adolescents (10–12 years). Exploratory analyses revealed no differences between adolescents who were taking oral corticosteroids (i.e., prednisone, dexamethasone) and those who were not or between males and females. Conclusion: These adolescents had sleep durations that met or exceeded the recommended sleep duration for their age groups but experienced significant WASO. Further research is needed to estimate sleep needs of adolescents during chemotherapy and determine factors that contribute to nocturnal wake-time so that targeted interventions can be designed to improve sleep quality.


Author(s):  
Francesco Bruno ◽  
Luigi Palopoli ◽  
Simona E. Rombo

Searching for repeated features characterizing biological data is fundamental in computational biology. When biological networks are under analysis, the presence of repeated modules across the same network (or several distinct ones) is shown to be very relevant. Indeed, several studies prove that biological networks can be often understood in terms of coalitions of basic repeated building blocks, often referred to as network motifs.This work provides a review of the main techniques proposed for motif extraction from biological networks. In particular, main intrinsic difficulties related to the problem are pointed out, along with solutions proposed in the literature to overcome them. Open challenges and directions for future research are finally discussed.


Neurology ◽  
2019 ◽  
Vol 93 (11) ◽  
pp. e1034-e1044 ◽  
Author(s):  
Fabio Pizza ◽  
Lucie Barateau ◽  
Isabelle Jaussent ◽  
Stefano Vandi ◽  
Elena Antelmi ◽  
...  

ObjectiveTo validate polysomnographic markers (sleep latency and sleep-onset REM periods [SOREMPs] at the Multiple Sleep Latency Test [MSLT] and nocturnal polysomnography [PSG]) for pediatric narcolepsy type 1 (NT1) against CSF hypocretin-1 (hcrt-1) deficiency and presence of cataplexy, as no criteria are currently validated in children.MethodsClinical, neurophysiologic, and, when available, biological data (HLA-DQB1*06:02 positivity, CSF hcrt-1 levels) of 357 consecutive children below 18 years of age evaluated for suspected narcolepsy were collected. Best MSLT cutoffs were obtained by receiver operating characteristic (ROC) curve analysis by contrasting among patients with available CSF hcrt-1 assay (n = 228) with vs without CSF hcrt-1 deficiency, and further validated in patients without available CSF hcrt-1 against cataplexy (n = 129).ResultsPatients with CSF hcrt-1 deficiency were best recognized using a mean MSLT sleep latency ≤8.2 minutes (area under the ROC curve of 0.985), or by at least 2 SOREMPs at the MSLT (area under the ROC curve of 0.975), or the combined PSG + MSLT (area under the ROC curve of 0.977). Although specificity and sensitivity of reference MSLT sleep latency ≤8 minutes and ≥2 SOREMPs (nocturnal SOREMP included) was 100% and 94.87%, the combination of MSLT sleep latency and SOREMP counts did not improve diagnostic accuracy. Age or sex also did not significantly influence these results in our pediatric population.ConclusionsAt least 2 SOREMPs or a mean sleep latency ≤8.2 minutes at the MSLT are valid and reliable markers for pediatric NT1 diagnosis, a result contrasting with adult NT1 criteria.Classification of evidenceThis study provides Class III evidence that for children with suspected narcolepsy, polysomnographic and MSLT markers accurately identify those with narcolepsy type 1.


2018 ◽  
Vol 46 (6) ◽  
pp. 641-660 ◽  
Author(s):  
Katie Herron ◽  
Lorna Farquharson ◽  
Abigail Wroe ◽  
Annette Sterr

Background:Cognitive behavioural therapy for insomnia (CBTI) has been successfully applied to those with chronic illness. However, despite the high prevalence of post-stroke insomnia, the applicability of CBTI for this population has not been substantially researched or routinely used in clinical practice.Aims:The present study developed a ‘CBTI+’ protocol for those with post-stroke insomnia and tested its efficacy. The protocol also incorporated additional management strategies that considered the consequences of stroke.Method:A single-case experimental design was used with five community-dwelling individuals with post-stroke insomnia. Daily sleep diaries were collected over 11 weeks, including a 2-week baseline, 7-week intervention and 2-week follow-up. The Insomnia Severity Index, Dysfunctional Attitudes and Beliefs About Sleep Scale, Epworth Sleepiness Scale, Fatigue Severity Scale and Stroke Impact Scale were administered pre- and post-treatment, as well as at 2-week follow-up.Results:At post-treatment, three participants no longer met diagnostic criteria for insomnia and all participants showed improvements on two or more sleep parameters, including sleep duration and sleep onset latency. Three participants showed a reduction in daytime sleepiness, increased quality of life and reduction in unhelpful beliefs about sleep.Conclusions:This study provides initial evidence that CBTI+ is a feasible and acceptable intervention for post-stroke insomnia. Furthermore, it indicates that sleep difficulties in community-dwelling stroke populations are at least partly maintained by unhelpful beliefs and behaviours. The development and delivery of the CBTI+ protocol has important clinical implications for managing post-stroke insomnia and highlights directions for future research.


1996 ◽  
Vol 76 (6) ◽  
pp. 3714-3720 ◽  
Author(s):  
I. G. Campbell ◽  
I. Feinberg

1. We have previously shown that noncompetitive blockade of the N-methyl-D-aspartate (NMDA)-gated cation channel with ketamine or Dizocilpine maleate (MK-801) increases the intensity of non-rapid-eye-movement (NREM) delta during subsequent sleep. This delta increase [measured as integrated amplitude (IA) in 1- to 4-Hz electroencephalogram (EEG)] occurs in the 12-h period following intraperitoneal injection. However, the 12 h after drug injection is also the period in which these drugs induce neurotoxic changes, raising the possibility that the increased delta represents toxic EEG slowing rather than an increase in the physiological delta waves of NREM sleep. 2. We hypothesized that the time course of delta stimulation could be separated from the time course of neurotoxicity. We tested this hypothesis by injecting 0.3 mg/kg MK-801 at the start of the dark period (DP) and depriving rats of sleep until the onset of the light period (LP) 12 h later. 3. There were two control groups: one received MK-801 at the start of the DP with no further manipulation, and the second received a saline injection at DP onset followed by 12 h of sleep deprivation. The dependent variable was the amount of delta IA in the LP, whose onset was 12 h after MK-801 injection. Total IA in the LP was significantly greater in rats that received MK-801 followed by sleep deprivation than in rats that received sleep deprivation alone or MK-801 alone. 4. This finding indicates that delta stimulation by MK-801 is maintained over 12 h of waking, indicating that the delta increase is not due to toxic EEG slowing or persisting MK-801. Instead, NMDA channel blockade by MK-801 increases the homeostatic need for delta or else directly alters sleep regulatory systems. We speculate that these effects are mediated by hypothalamic sleep centers through control of neuroendocrine pulses that produce both NREM and rapid-eye-movement sleep. 5. Imposing a period of waking between drug administration and sleep onset may prove a generally useful strategy for determining whether a drug affects the homeostatic need for sleep or acutely stimulates sleep systems. This strategy can also help distinguish between toxic and physiological increases in delta EEG.


Life Sciences ◽  
1972 ◽  
Vol 11 (12) ◽  
pp. 587-593 ◽  
Author(s):  
Michael A. Pawel ◽  
Jon F. Sassin ◽  
Elliot D. Weitzman

Pteridines ◽  
2017 ◽  
Vol 28 (3-4) ◽  
pp. 195-204 ◽  
Author(s):  
Zaki Ahmad ◽  
Yara W. Moustafa ◽  
John W. Stiller ◽  
Mary A. Pavlovich ◽  
Uttam K. Raheja ◽  
...  

AbstractToxoplasma gondii (T. gondii) infects central nervous tissue and is kept in relative dormancy by a healthy immune system. Sleep disturbances have been found to precipitate mental illness, suicidal behavior and car accidents, which have been previously linked to T. gondii as well. We speculated that if sleep disruption, particularly insomnia, would mediate, at least partly, the link between T. gondii infection and related behavioral dysregulation, then we would be able to identify significant associations between sleep disruption and T. gondii. The mechanisms for such an association may involve dopamine (DA) production by T. gondii, or collateral effects of immune activation necessary to keep T. gondii in check. Sleep questionnaires from 2031 Old Order Amish were analyzed in relationship to T. gondii-IgG antibodies measured by enzyme-linked immunosorbent assay (ELISA). Toxoplasma gondii seropositivity and serointensity were not associated with any of the sleep latency variables or Epworth Sleepiness Scale (ESS). A secondary analysis identified, after adjustment for age group, a statistical trend toward shorter sleep duration in seropositive men (p=0.07). In conclusion, it is unlikely that sleep disruption mediates links between T. gondii and mental illness or behavioral dysregulation. Trending gender differences in associations between T. gondii and shorter sleep need further investigation.


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