Hypocretin (orexin) biology and the pathophysiology of narcolepsy with cataplexy.

The discovery of hypocretins (orexins) and their causal implication in narcolepsy is the most important advance in sleep research and sleep medicine since the discovery of rapid eye movement sleep. Narcolepsy with cataplexy is caused by hypocretin deficiency owing to destruction of most of the hypocretin-producing neurons in the hypothalamus. Ablation of hypocretin or hypocretin receptors also leads to narcolepsy phenotypes in animal models.

Prevalence of sleep-disordered breathing in the general population: the HypnoLaus study.

Background: Sleep-disordered breathing is associated with major morbidity and mortality. However, its prevalence has mainly been selectively studied in populations at risk for sleep-disordered breathing or cardiovascular diseases. Taking into account improvements in recording techniques and new criteria used to define respiratory events, we aimed to assess the prevalence of sleep-disordered breathing and associated clinical features in a large population-based sample.

Catechol-O-methyltransferase, dopamine, and sleep-wake regulation.

Sleep and sleep disorders are complex and highly variable phenotypes regulated by many genes and environment. The catechol-O-methyltransferase (COMT) gene is an interesting candidate, being one of the major mammalian enzymes involved in the catabolism of catecholamines. The activity of COMT enzyme is genetically polymorphic due to a guanine-to-adenine transition at codon 158, resulting in a valine (Val) to methionine (Met) substitution.

Objective sleep structure and cardiovascular risk factors in the general population: the HypnoLaus Study.

Study Objectives: To evaluate the association between objective sleep measures and metabolic syndrome (MS), hypertension, diabetes, and obesity.

Design: Cross-sectional study.

Setting: General population sample.

Trends and determinants of time in bed in Geneva, Switzerland.

Study Objectives: There is limited information regarding sleep duration and determinants in Switzerland. We aimed to assess the trends and determinants of time in bed as a proxy for sleep duration in the Swiss canton of Geneva.

Methods: Data from repeated, independent cross-sectional representative samples of adults (≥ 18 years) of the Geneva population were collected between 2005 and 2011.

What Role Does Sleep Play in Weight Gain in the First Semester of University?

We hypothesized that shorter sleep durations and greater variability in sleep patterns are associated with weight gain in the first semester of university. Students (N = 132) completed daily sleep diaries for 9 weeks, completed the MEQ (chronotype) and CES-D (depressed mood) at week 9, and self-reported weight/height (weeks 1 & 9). Mean and variability scores were calculated for sleep duration (TST, TSTv), bedtime (BT, BTv), and wake time (WT, WTv).

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.

The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups.

DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe.

Study Objective: Prior research has identified five common genetic variants associated with narcolepsy with cataplexy in Caucasian patients. To replicate and/or extend these findings, we have tested HLA-DQB1, the previously identified 5 variants, and 10 other potential variants in a large European sample of narcolepsy with cataplexy subjects.

Design: Retrospective case-control study.

Reliability of a Scale Assessing Depressed Mood in the Context of Sleep.

The current study assessed the reliability of Kandel & Davies mood scale with and without sleep-related items. 178 Brown University first-year students (mean age=18.1 years; 108 females) completed online biweekly surveys after weeks 2, 6, 8, and 10 and on 2 consecutive days after weeks 4 and 12 of their first semester.

Effect of transnasal insufflation on sleep disordered breathing in acute stroke: a preliminary study.

Background And Purpose: Sleep disordered breathing (SDB) is frequent in acute stroke patients and is associated with early neurologic worsening and poor outcome. Although continuous positive airway pressure (CPAP) effectively treats SDB, compliance is low. The objective of the present study was to assess the tolerance and the efficacy of a continuous high-flow-rate air administered through an open nasal cannula (transnasal insufflation, TNI), a less-intrusive method, to treat SDB in acute stroke patients.

Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders.

Sleep disorders are very prevalent and represent an emerging worldwide epidemic. However, research into the molecular genetics of sleep disorders remains surprisingly one of the least active fields. Nevertheless, rapid progress is being made in several prototypical disorders, leading recently to the identification of the molecular pathways underlying narcolepsy and familial advanced sleep-phase syndrome.