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Delayed sleep disorder

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https://www.readbyqxmd.com/read/29141950/maternal-circadian-rhythms-and-the-programming-of-adult-health-and-disease
#1
Tamara Jayne Varcoe, Kathryn L Gatford, David J Kennaway
The in utero environment is inherently rhythmic, with the fetus subjected to circadian changes in temperature, substrates and various maternal hormones. Meanwhile, the fetus is developing an endogenous circadian timing system, preparing for life in an external environment where light, food availability and other environmental factors change predictably and repeatedly every 24 hours. In humans, there are many situations that can disrupt circadian rhythms, including shift work, international travel, insomnias and circadian rhythm disorders (e...
November 15, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29114160/clinical-characteristics-of-troublesome-pediatric-tinnitus
#2
Annett Szibor, Topi Jutila, Antti Mäkitie, Antti Aarnisalo
Objectives: The frequency of tinnitus in children and adults is practically the same. However, although adults reveal their symptoms and seek for medical aid, the suffering often remains unrecognized in the young. This is due to both the inability of children to properly describe their symptoms and the lack of recognition. Materials and methods: Among 5768 patients entering our department with complaints of tinnitus between 2010 and 2015, there were only 112 children...
2017: Clinical Medicine Insights. Ear, Nose and Throat
https://www.readbyqxmd.com/read/29097299/the-study-of-neurocognitive-outcomes-radiological-and-retinal-effects-of-aspirin-in-sleep-apnoea-rationale-and-methodology-of-the-snore-asa-study
#3
Stephanie Alison Ward, Elsdon Storey, Robyn L Woods, Garun S Hamilton, Ryo Kawasaki, Andrew L Janke, Matthew T Naughton, Fergal J O'Donoghue, Rory Wolfe, Tien Y Wong, Christopher M Reid, Walter P Abhayaratna, Nigel Stocks, Ruth Trevaks, Sharyn Fitzgerald, Lauren A B Hodgson, Liubov Robman, Barbara Workman, John J McNeil
PURPOSE: Sleep disordered breathing (SDB) is highly prevalent in older adults. Increasing evidence links SDB to the risk of dementia, mediated via a number of pathways, some of which may be attenuated by low-dose aspirin. This study will evaluate, in a healthy older cohort, the prospective relationship between SDB and cognitive function, changes in retinal and cerebral microvasculature, and determine whether low-dose aspirin ameliorates the effects of SDB on these outcomes over 3years...
October 30, 2017: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/29090079/prospective-investigation-of-foxp1-syndrome
#4
Paige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S Wallace, Heather C Mefford, Raphael A Bernier, Alexander Kolevzon, Joseph D Buxbaum
BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29080583/prediabetes-beyond-the-borderline
#5
REVIEW
Mara Lynn Wilson
Prediabetes is a complex multifactorial metabolic disorder that extends beyond glucose control. Current studies have found that microvascular disease (neuropathy, nephropathy, and retinopathy), macrovascular disease (stroke, coronary artery disease, and peripheral vascular disease), periodontal disease, cognitive dysfunction, blood pressure changes, obstructive sleep apnea, low testosterone level, fatty liver disease, and cancer are some of conditions that are present with the onset of glycemic dysregulation...
December 2017: Nursing Clinics of North America
https://www.readbyqxmd.com/read/29067653/clinical-manifestations-and-overall-management-strategies-for-duchenne-muscular-dystrophy
#6
Takeshi Tsuda
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive weakness and wasting of skeletal muscular and myocardium in boys due to mutation of dystrophin. The structural integrity of each individual skeletal and cardiac myocyte is significantly compromised upon physical stress due to the absence of dystrophin. The progressive destruction of systemic musculature and myocardium causes affected patients to develop multiple organ disabilities, including loss of ambulation, physical immobility, neuromuscular scoliosis, joint contracture, restrictive lung disease, obstructive sleep apnea, and cardiomyopathy...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29060852/a-novel-smart-lighting-clinical-testbed
#7
Joseph D Gleason, Meeko Oishi, Michelle Simkulet, Arunas Tuzikas, Lee K Brown, S R J Brueck, Robert F Karlicek
A real-time, feedback-capable, variable spectrum lighting system was recently installed at the University of New Mexico Hospital to facilitate biomedical research on the health impacts of lighting. The system consists of variable spectrum troffers, color sensors, occupancy sensors, and computing and communication infrastructure, and is the only such clinical facility in the US. The clinical environment posed special challenges for installation as well as for ongoing maintenance and operations. Pilot studies are currently underway to evaluate the effectiveness of the system to regulate circadian phase in subjects with delayed sleep-wake phase disorder...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29050555/natural-variation-in-human-clocks
#8
Malcolm von Schantz
Our own species has a diurnal activity pattern and an average circadian period of 24.2h. Exact determination of circadian period requires expensive and intrusive protocols, and investigators are therefore using chronotype questionnaires as a proxy quantitative measure. Both measures show a normal distribution suggestive of a polygenic trait. The genetic components of the 24-h feedback loop that generates circadian rhythms within our cells have been mapped in detail, identifying a number of candidate genes which have been investigated for genetic polymorphisms relating to the phenotypic variance...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/29033643/dandy-walker-malformation-presenting-with-affective-symptoms
#9
Mert Batmaz, Zeynep Ezgi Balçik, Ürün Özer, Burcu Hamurişçi Yalçin, Şakir Özen
Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29018561/disturbed-eeg-sleep-paranoid-cognition-and-somatic-symptoms-identify-veterans-with-post-traumatic-stress-disorder
#10
Harvey Moldofsky, Lorne Rothman, Robert Kleinman, Shawn G Rhind, J Donald Richardson
BACKGROUND: Chronic post-traumatic stress disorder (PTSD) behavioural symptoms and medically unexplainable somatic symptoms are reported to occur following the stressful experience of military combatants in war zones. AIMS: To determine the contribution of disordered EEG sleep physiology in those military combatants who have unexplainable physical symptoms and PTSD behavioural difficulties following war-zone exposure. METHOD: This case-controlled study compared 59 veterans with chronic sleep disturbance with 39 veterans with DSM-IV and clinician-administered PTSD Scale diagnosed PTSD who were unresponsive to pharmacological and psychological treatments...
November 2016: BJPsych Open
https://www.readbyqxmd.com/read/28988683/smoking-and-age-at-onset-of-both-motor-and-non-motor-symptoms-in-parkinson-s-disease
#11
Angelo Fabio Gigante, Tommaso Martino, Giovanni Iliceto, Giovanni Defazio
INTRODUCTION: Several evidence suggest that smoking may decrease the risk of Parkinson's disease and is associated with an older age-at-onset of motor signs. The relation between smoking and age-at-onset of non-motor symptoms has never been analyzed. Objective of the study is to evaluate whether smoking habit and pack-years of smoking are associated with a delay of age-at-onset of motor signs, and of some non-motor symptoms. METHODS: The study population consisted of 262 consecutive parkinsonian patients...
September 29, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28985901/systemic-manifestations-in-pyridox-am-ine-5-phosphate-oxidase-deficiency
#12
Réjean M Guerriero, Archana A Patel, Brian Walsh, Fiona M Baumer, Ankoor S Shah, Jurriaan M Peters, Lance H Rodan, Pankaj B Agrawal, Phillip L Pearl, Masanori Takeoka
OBJECTIVE: Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. Following identification of retinopathy in a patient with pyridox(am)ine 5'-phosphate oxidase deficiency that was reversible with P5P therapy, we describe the systemic manifestations of pyridox(am)ine 5'-phosphate oxidase deficiency...
June 3, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28975007/the-medical-and-economic-burden-of-narcolepsy-implications-for-managed-care
#13
REVIEW
Michael J Thorpy, George Hiller
BACKGROUND: The neurologic disorder narcolepsy results from dysregulation of the sleep-wake cycle and is primarily characterized by chronic, severely excessive daytime sleepiness and cataplexy, an emotionally induced muscle weakness. The prevalence of narcolepsy is approximately 0.05%, and onset generally occurs during the first 2 decades of life. Narcolepsy is believed to be an autoimmune disorder with destruction of hypocretin-producing neurons in the lateral hypothalamus. OBJECTIVES: To provide an enhanced understanding of narcolepsy and establish the need for early diagnosis and rapid initiation of effective treatment for patients with narcolepsy...
July 2017: American Health & Drug Benefits
https://www.readbyqxmd.com/read/28963116/phelan-mcdermid-syndrome-due-to-shank3-mutation-in-an-intellectually-disabled-adult-male-successful-treatment-with-lithium
#14
Jos I M Egger, Willem M A Verhoeven, Renske Groenendijk-Reijenga, Sarina G Kant
For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum and a higher risk of developing seizure disorders, may be caused by a deletion of chromosome 22q13 or by a mutation in the SHANK3 gene. Its core psychopathological phenotype comprises symptoms from the bipolar spectrum for which generally treatment with a mood-stabilising anticonvulsant in combination with an atypical antipsychotic seems to be most effective...
September 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28954595/subjective-objective-sleep-discrepancy-in-older-adults-with-mci-and-subsyndromal-depression
#15
Elizabeth A DiNapoli, Marie Anne Gebara, Terry Kho, Meryl A Butters, Ariel G Gildengers, Steven M Albert, Mary Amanda Dew, Kirk I Erickson, Charles F Reynolds, Jordan F Karp
BACKGROUND/OBJECTIVES: We investigated the prevalence and correlates of discrepancies between self-reported sleep quality (Pittsburgh Sleep Quality Index) and objective sleep efficiency (actigraphy) in older adults with mild cognitive impairment (MCI) and subsyndromal depression. METHODS: This was a secondary analysis of a clincial trial with 59 adults aged 60 years and older with MCI and subsyndromal depression. We included baseline data on participants' subjective sleep quality, objective sleep efficiency, depressive symptoms, insomnia diagnosis, and cognitive functioning...
January 1, 2017: Journal of Geriatric Psychiatry and Neurology
https://www.readbyqxmd.com/read/28947040/comparison-of-titrable-thermoplastic-versus-custom-made-mandibular-advancement-device-for-the-treatment-of-obstructive-sleep-apnoea
#16
Frédéric Gagnadoux, Xuan-Lan Nguyen, Marc Le Vaillant, Pascaline Priou, Nicole Meslier, Audrey Eberlein, Jean-Daniel Kun-Darbois, Cyril Chaufton, Bruno Villiers, Maguy Levy, Wojciech Trzépizur, Sandrine Launois
BACKGOUND AND OBJECTIVES: The disadvantages of custom-made mandibular advancement devices (MAD) for obstructive sleep apnoea (OSA) therapy are the cost and delay required to manufacture the device. This study aimed to evaluate the efficacy of a titrable, thermoplastic MAD compared to a custom-made MAD for OSA therapy. METHODS: In this prospective nonrandomized study, 158 patients with OSA from two French sleep centers were treated for 6 months with a titrable thermoplastic MAD (n = 86) or a custom-made MAD (n = 72)...
October 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28924202/coupling-and-dynamics-of-cortical-and-autonomic-signals-are-linked-to-central-inhibition-during-the-wake-sleep-transition
#17
Christine Ulke, Jue Huang, Justus T C Schwabedal, Galina Surova, Roland Mergl, Tilman Hensch
Maintaining temporal coordination across physiological systems is crucial at the wake-sleep transition. As shown in recent studies, the degree of coordination between brain and autonomic arousal influences attention, which highlights a previously unrecognised point of potential failure in the attention system. To investigate how cortical and autonomic dynamics are linked to the attentive process we analysed electroencephalogram, electrocardiogram and skin conductance data of 39 healthy adults recorded during a 2-h resting-state oddball experiment...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28900300/rogdi-defines-gabaergic-control-of-a-wake-promoting-dopaminergic-pathway-to-sustain-sleep-in-drosophila
#18
Minjong Kim, Donghoon Jang, Eunseok Yoo, Yangkyun Oh, Jun Young Sonn, Jongbin Lee, Yoonhee Ki, Hyo Jin Son, Onyou Hwang, Changwook Lee, Chunghun Lim, Joonho Choe
Kohlschutter-Tönz syndrome (KTS) is a rare genetic disorder with neurological dysfunctions including seizure and intellectual impairment. Mutations at the Rogdi locus have been linked to development of KTS, yet the underlying mechanisms remain elusive. Here we demonstrate that a Drosophila homolog of Rogdi acts as a novel sleep-promoting factor by supporting a specific subset of gamma-aminobutyric acid (GABA) transmission. Rogdi mutant flies displayed insomnia-like behaviors accompanied by sleep fragmentation and delay in sleep initiation...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28900155/inflexible-neurobiological-signatures-precede-atypical-development-in-infants-at-high-risk-for-autism
#19
Kristina Denisova, Guihu Zhao
Variability in neurobiological signatures is ubiquitous in early life but the link to adverse developmental milestones in humans is unknown. We examined how levels of signal and noise in movement signatures during the 1st year of life constrain early development in 71 healthy typically developing infants, either at High or Low familial Risk (HR or LR, respectively) for developing Autism Spectrum Disorders (ASD). Delays in early learning developmental trajectories in HR infants (validated in an analysis of 1,445 infants from representative infant-sibling studies) were predicted by worse stochastic patterns in their spontaneous head movements as early as 1-2 months after birth, relative to HR infants who showed more rapid developmental progress, as well as relative to all LR infants...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28892547/non-rapid-eye-movement-arousal-parasomnias-in-children
#20
Vijayabharathi Ekambaram, Kiran Maski
Parasomnia is a common pediatric sleep disorder that can cause parents or caregivers distress when experienced by their children. Based on the International Classification of Sleep Disorders, parasomnias can be divided into two subgroups: non-rapid eye movement (NREM) parasomnias and rapid eye movement (REM) parasomnias. REM sleep parasomnias include nightmares, REM behavior disorder, and sleep paralysis, whereas NREM sleep parasomnias include disorders of arousal such as confusional arousals, sleepwalking, sleep talking, night terrors, and sleep-related eating disorder...
September 1, 2017: Pediatric Annals
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