Catálogo de publicaciones - revistas

<jats:title>Summary</jats:title><jats:p>This article addresses the clinical presentation, diagnosis, pathophysiology and management of narcolepsy type 1 and 2, with a focus on recent findings. A low level of hypocretin‐1/orexin‐A in the cerebrospinal fluid is sufficient to diagnose narcolepsy type 1, being a highly specific and sensitive biomarker, and the irreversible loss of hypocretin neurons is responsible for the main symptoms of the disease: sleepiness, cataplexy, sleep‐related hallucinations and paralysis, and disrupted nocturnal sleep. The process responsible for the destruction of hypocretin neurons is highly suspected to be autoimmune, or dysimmune. Over the last two decades, remarkable progress has been made for the understanding of these mechanisms that were made possible with the development of new techniques. Conversely, narcolepsy type 2 is a less well‐defined disorder, with a variable phenotype and evolution, and few reliable biomarkers discovered so far. There is a dearth of knowledge about this disorder, and its aetiology remains unclear and needs to be further explored. Treatment of narcolepsy is still nowadays only symptomatic, targeting sleepiness, cataplexy and disrupted nocturnal sleep. However, new psychostimulants have been recently developed, and the upcoming arrival of non‐peptide hypocretin receptor‐2 agonists should be a revolution in the management of this rare sleep disease, and maybe also for disorders beyond narcolepsy.</jats:p>

<jats:title>Summary</jats:title><jats:p>Sleep disturbances often co‐exist, which challenges our understanding of their potential impact on cognition. We explored the cross‐sectional associations of insomnia and objective measures of sleep with cognitive performance in the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) study stratified by middle‐aged and older adults. Participants aged ≥55 years underwent cognitive evaluations, polygraphy for 1 night, and actigraphy for 7 days. Insomnia was evaluated using the Clinical Interview Scheduled Revised. Obstructive sleep apnea (OSA) and short sleep duration (SSD) were defined by an apnea–hypopnea index (AHI) of ≥15 events/h and &lt;6 h/ night, respectively. In 703 participants (mean [SD] age 62 [6] years, 44% men), cognition was evaluated using a 10‐word list, verbal fluency, and trail‐making tests. The frequencies of insomnia, SSD, and OSA were 11%, 24%, and 33%, respectively. In all, 4% had comorbid OSA and insomnia, and 11% had both OSA and SSD. Higher wake after sleep onset (<jats:italic>β</jats:italic> = −0.004, 95% confidence interval [CI] −0.008, −0.001) and the number of awakenings (<jats:italic>β</jats:italic> = −0.006, 95% CI −0.012, −0.001) were associated with worse verbal fluency performance. Compared to those without insomnia, older participants with insomnia had worse global performance (<jats:italic>β</jats:italic> = −0.354, 95% CI −0.671, −0.038). Insomnia was an effect modifier in the associations between AHI and executive function performance (<jats:italic>p</jats:italic> for the interaction between insomnia and AHI = 0.004) and between oxygen saturation &lt;90% and memory performance (<jats:italic>p</jats:italic> for the interaction between insomnia and oxygen saturation = 0.02). Although some associations between sleep measures and cognition were significant, they should be considered with caution due to the large sample size and multiple testing performed in this study.</jats:p>

<jats:title>Summary</jats:title><jats:p>Insomnia is a stress‐related sleep disorder conceptualised within a diathesis‐stress framework, which it is thought to result from predisposing factors interacting with precipitating stressful events that trigger the development of insomnia. Among predisposing factors genetics and epigenetics may play a role. A systematic review of the current evidence for the genetic and epigenetic basis of insomnia was conducted according to Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA) system. A total of 24 studies were collected for twins and family heritability, 55 for genome‐wide association studies, 26 about candidate genes for insomnia, and eight for epigenetics. Data showed that insomnia is a complex polygenic stress‐related disorder, and it is likely to be caused by a synergy of genetic and environmental factors, with stress‐related sleep reactivity being the important trait. Even if few studies have been conducted to date on insomnia, epigenetics may be the framework to understand long‐lasting consequences of the interaction between genetic and environmental factors and effects of stress on the brain in insomnia. Interestingly, polygenic risk for insomnia has been causally linked to different mental and medical disorders. Probably, by treating insomnia it would be possible to intervene on the effect of stress on the brain and prevent some medical and mental conditions.</jats:p>