Project description:AbstractAutosomal dominant spinocerebellar ataxia type 17 (SCA17) is known to have various manifestations. Previously, ataxia and autonomic dysfunction have been reported with this disorder, making an overlap with multiple systemic atrophy (MSA). However, respiratory complications, especially stridor during sleep, have not yet been reported with SCA17, in contrast to MSA, in which stridor occurs during sleep and is associated with an increased risk of death. Herein, we report a patient with SCA17, in whom stridor developed during sleep.
Project description:Sleep is investigated in many different ways, many different species and under many different circumstances. Modern sleep research is a multidisciplinary venture. Therefore, this review cannot give a complete overview of all techniques used in sleep research and sleep medicine. What it will try to do is to give an overview of widely applied techniques and exciting new developments. Electroencephalography has been the backbone of sleep research and sleep medicine since its first application in the 1930s. The electroencephalogram is still used but now combined with many different techniques monitoring body and brain temperature, changes in brain and blood chemistry, or changes in brain functioning. Animal research has been very important for progress in sleep research and sleep medicine. It provides opportunities to investigate the sleeping brain in ways not possible in healthy volunteers. Progress in genomics has brought new insights in sleep regulation, the best example being the discovery of hypocretin/orexin deficiency as the cause of narcolepsy. Gene manipulation holds great promise for the future since it is possible not only to investigate the functions of different genes under normal conditions, but also to mimic human pathology in much greater detail.
Project description:This paper describes the steps involved in obtaining a set of relevant data sources and the accompanying method using software-based sensors to detect anomalous behavior in modern smartphones based on machine-learning classifiers. Three classes of models are investigated for classification: logistic regressions, shallow neural nets, and support vector machines. The paper details the design, implementation, and comparative evaluation of all three classes. If necessary, the approach could be extended to other computing devices, if appropriate changes were made to the software infrastructure, based upon mandatory capabilities of the underlying hardware.
Project description:Prokaryotic DNA contains three types of methylation: N6-methyladenine, N4-methylcytosine and 5-methylcytosine. The lack of tools to analyse the frequency and distribution of methylated residues in bacterial genomes has prevented a full understanding of their functions. Now, advances in DNA sequencing technology, including single-molecule, real-time sequencing and nanopore-based sequencing, have provided new opportunities for systematic detection of all three forms of methylated DNA at a genome-wide scale and offer unprecedented opportunities for achieving a more complete understanding of bacterial epigenomes. Indeed, as the number of mapped bacterial methylomes approaches 2,000, increasing evidence supports roles for methylation in regulation of gene expression, virulence and pathogen-host interactions.
Project description:North Africa is a key area for understanding hominin population movements and the expansion of our species. It is home to the earliest currently known Homo sapiens (Jebel Irhoud) and several late Middle Stone Age (MSA) fossils, notably Kébibat, Contrebandiers 1, Dar-es-Soltane II H5 and El Harhoura. Mostly referred to as "Aterian" they fill a gap in the North African fossil record between Jebel Irhoud and Iberomaurusians. We explore morphological continuity in this region by quantifying mandibular shape using 3D (semi)landmark geometric morphometric methods in a comparative framework of late Early and Middle Pleistocene hominins (n = 15), Neanderthals (n = 27) and H. sapiens (n = 145). We discovered a set of mixed features among late MSA fossils that is in line with an accretion of modern traits through time and an ongoing masticatory gracilization process. In Northern Africa, Aterians display similarities to Iberomaurusians and recent humans in the area as well as to the Tighenif and Thomas Quarry hominins, suggesting a greater time depth for regional continuity than previously assumed. The evidence we lay out for a long-term succession of hominins and humans emphasizes North Africa's role as source area of the earliest H. sapiens.
Project description:Sleep staging is essential for evaluating sleep and its disorders. Most sleep studies today incorporate contact sensors that may interfere with natural sleep and may bias results. Moreover, the availability of sleep studies is limited, and many people with sleep disorders remain undiagnosed. Here, we present a pioneering approach for rapid eye movement (REM), non-REM, and wake staging (macro-sleep stages, MSS) estimation based on sleep sounds analysis. Our working hypothesis is that the properties of sleep sounds, such as breathing and movement, within each MSS are different. We recorded audio signals, using non-contact microphones, of 250 patients referred to a polysomnography (PSG) study in a sleep laboratory. We trained an ensemble of one-layer, feedforward neural network classifiers fed by time-series of sleep sounds to produce real-time and offline analyses. The audio-based system was validated and produced an epoch-by-epoch (standard 30-sec segments) agreement with PSG of 87% with Cohen's kappa of 0.7. This study shows the potential of audio signal analysis as a simple, convenient, and reliable MSS estimation without contact sensors.
Project description:BackgroundSleep talking (ST) is characterized by the production of unaware verbal vocal activations (VBs) during sleep. ST seems potentially linked to linguistic and memory consolidation processes. However, sleep and dream characteristics and the relationship between verbal vocalizations (VBs) and cognitive functions are still unknown. Our study aimed to investigate qualitative sleep and dream features in sleep talkers (STs) compared to healthy subjects (CNTs) through retrospective and longitudinal measures and explore the relationship between ST and memory consolidation.MethodsWe recruited N = 29 STs and N = 30 CNTs (age range of 18-35). Participants recorded their dreams and filled out sleep logs for seven consecutive days. Vocal activations of STs were audio-recorded. On the eighth day, we administered a word-pair task.ResultsWe showed that STs had significantly worse self-reported sleep quality. VBs were positively correlated with sleep fragmentation and negatively associated with the oneiric emotional load. No difference between groups was found in the memory consolidation rate.ConclusionsAlthough ST is a benign phenomenon, we revealed that ST is associated with more sleep alterations and lower emotional intensity of dreams. In this vein, we support that ST depends on sleep fragmentation and could represent a potential window into sleep-dependent cognitive processes.
Project description:Study objectivesTo evaluate the reliability of nocturnal sleep dynamics in the differential diagnosis of central disorders of hypersomnolence.DesignCross-sectional.SettingSleep laboratory.PatientsOne hundred seventy-five patients with hypocretin-deficient narcolepsy type 1 (NT1, n = 79), narcolepsy type 2 (NT2, n = 22), idiopathic hypersomnia (IH, n = 22), and "subjective" hypersomnolence (sHS, n = 52).InterventionsNone.MethodsPolysomnographic (PSG) work-up included 48 h of continuous PSG recording. From nocturnal PSG conventional sleep macrostructure, occurrence of sleep onset rapid eye movement period (SOREMP), sleep stages distribution, and sleep stage transitions were calculated. Patient groups were compared, and receiver operating characteristic (ROC) curve analysis was used to test the diagnostic utility of nocturnal PSG data to identify NT1.ResultsSleep macrostructure was substantially stable in the 2 nights of each diagnostic group. NT1 and NT2 patients had lower latency to rapid eye movement (REM) sleep, and NT1 patients showed the highest number of awakenings, sleep stage transitions, and more time spent in N1 sleep, as well as most SOREMPs at daytime PSG and at multiple sleep latency test (MSLT) than all other groups. ROC curve analysis showed that nocturnal SOREMP (area under the curve of 0.724 ± 0.041, P < 0.0001), percent of total sleep time spent in N1 (0.896 ± 0.023, P < 0.0001), and the wakefulness-sleep transition index (0.796 ± 0.034, P < 0.0001) had a good sensitivity and specificity profile to identify NT1 sleep, especially when used in combination (0.903 ± 0.023, P < 0.0001), similarly to SOREMP number at continuous daytime PSG (0.899 ± 0.026, P < 0.0001) and at MSLT (0.956 ± 0.015, P < 0.0001).ConclusionsSleep macrostructure (i.e. SOREMP, N1 timing) including stage transitions reliably identifies hypocretin-deficient narcolepsy type 1 among central disorders of hypersomnolence.