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https://www.readbyqxmd.com/read/28818479/a-structured-assessment-of-motor-function-behavior-and-communication-in-patients-with-wolf-hirschhorn-syndrome
#1
Heidi E Nag, David K Bergsaker, Bente S Hunn, Susanne Schmidt, Lise B Hoxmark
The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28816003/prevalence-of-gastrointestinal-symptoms-in-angelman-syndrome
#2
Laura W Glassman, Olivia R Grocott, Portia A Kunz, Anna M Larson, Garret Zella, Kriston Ganguli, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, expressive speech impairment, movement disorder, epilepsy, and a happy demeanor. Children with AS are frequently reported to be poor feeders during infancy and as having gastrointestinal issues such as constipation, reflux, and abnormal food related behaviors throughout their lifetime. To assess the prevalence of gastrointestinal disorders in individuals with AS, we retrospectively analyzed medical records of 120 individuals seen at the Angelman Syndrome Clinic at Massachusetts General Hospital and 43 individuals seen at the University of North Carolina Comprehensive Angelman Clinic...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28809797/optogenetic-investigation-of-arousal-circuits
#3
REVIEW
Susan M Tyree, Luis de Lecea
Modulation between sleep and wake states is controlled by a number of heterogeneous neuron populations. Due to the topological proximity and genetic co-localization of the neurons underlying sleep-wake state modulation optogenetic methods offer a significant improvement in the ability to benefit from both the precision of genetic targeting and millisecond temporal control. Beginning with an overview of the neuron populations mediating arousal, this review outlines the progress that has been made in the investigation of arousal circuits since the incorporation of optogenetic techniques and the first in vivo application of optogenetic stimulation in hypocretin neurons in the lateral hypothalamus...
August 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#4
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805581/nonmotor-parkinson-s-and-future-directions
#5
Nataliya Titova, K Ray Chaudhuri
Nonmotor symptoms (NMS) of Parkinson's disease (PD) are integral to the condition largely regarded as a motor syndrome. A range of NMS underpin the prodromal stage of Parkinson's and are present with variable frequency, range, and nature across the whole journey of a patient with Parkinson's from the onset of the motor disease to palliative stage. These symptoms also are key determinants of quality of life of the patient as well as the carer. Despite this, recognition management and focused treatment of NMS of PD remain poor...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#6
Samar Biswas, Neelanjana Paul, Shyamal K Das
Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802919/nonmotor-signs-in-genetic-forms-of-parkinson-s-disease
#7
Meike Kasten, Connie Marras, Christine Klein
Although only a minority (i.e., ~5%) of Parkinson's disease (PD) cases is due to well-defined genetic causes, important clues about the common, "idiopathic" PD (iPD) can be garnered from monogenic model diseases. Nonmotor signs (NMS) are also present in monogenic PD and reviewed in this chapter for the confirmed PD genes SNCA, LRRK2, VPS35, Parkin, PINK1, DJ-1, and the risk factor gene GBA. Within the context of the MDSGene database (www.mdsgene.org), we performed a systematic literature search and extracted information on cognitive decline, depression, psychotic signs and symptoms, autonomic signs and symptoms, anxiety, sleep disorder, and olfactory impairment...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802918/genes-and-nonmotor-symptoms-in-parkinson-s-disease
#8
Ee-Wei Lim, Eng-King Tan
Published data on genetic risk factors of nonmotor symptoms (NMS) are relatively lacking since the first mutation responsible for Parkinson's disease (PD) being reported in 1996. This chapter provides a concise summary of genetic links to common individual NMS such as cognitive impairment, depression, psychosis, olfactory dysfunction, pain, and sleep disorders. Although some genetic variants such as apolipoprotein E and glucocerebrosidase demonstrate consistent links with certain NMS, it is difficult to draw definitive conclusions...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28792954/variants-in-calcium-voltage-gated-channel-subunit-alpha1-c-gene-cacna1c-are-associated-with-sleep-latency-in-infants
#9
Katri Kantojärvi, Johanna Liuhanen, Outi Saarenpää-Heikkilä, Anna-Liisa Satomaa, Anneli Kylliäinen, Pirjo Pölkki, Julia Jaatela, Auli Toivola, Lili Milani, Sari-Leena Himanen, Tarja Porkka-Heiskanen, Juulia Paavonen, Tiina Paunio
Genetic variants in CACNA1C (calcium voltage-gated channel subunit alpha1 C) are associated with bipolar disorder and schizophrenia where sleep disturbances are common. In an experimental model, Cacna1c has been found to modulate the electrophysiological architecture of sleep. There are strong genetic influences for consolidation of sleep in infancy, but only a few studies have thus far researched the genetic factors underlying the process. We hypothesized that genetic variants in CACNA1C affect the regulation of sleep in early development...
2017: PloS One
https://www.readbyqxmd.com/read/28791985/knowledge-of-medical-students-about-epilepsy-need-for-a-change
#10
B A Ezeala-Adikaibe, T Okpara, O S Ekenze, O Onodugo, N P Ezeala-Adikaibe, T Nnaji, G Onyebueke
PURPOSE: Though most doctors in their professional life will provide care for people with epilepsy, many will not get further training in their professional life. There may be other barriers, perceived or not, to providing care to people living with epilepsy by doctors which need to be approached in the medical undergraduate curriculum and medical continuing education. The aim of this study was to determine the knowledge gaps of medical students on basic issues regarding epilepsy that could be useful in preparing training material for the students and continuous medical education for doctors working in the community...
July 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28780783/implications-of-circadian-rhythm-in-dopamine-and-mood-regulation
#11
REVIEW
Jeongah Kim, Sangwon Jang, Han Kyoung Choe, Sooyoung Chung, Gi Hoon Son, Kyungjin Kim
Mammalian physiology and behavior are regulated by an internal time-keeping system, referred to as circadian rhythm. The circadian timing system has a hierarchical organization composed of the master clock in the suprachiasmatic nucleus (SCN) and local clocks in extra-SCN brain regions and peripheral organs. The circadian clock molecular mechanism involves a network of transcription-translation feedback loops. In addition to the clinical association between circadian rhythm disruption and mood disorders, recent studies have suggested a molecular link between mood regulation and circadian rhythm...
July 31, 2017: Molecules and Cells
https://www.readbyqxmd.com/read/28777361/-associations-between-chronotype-road-accidents-and-polymorphisms-in-genes-linked-with-biological-clock-and-dopaminergic-system
#12
A O Taranov, A N Puchkova, P A Slominsky, T V Tupitsyna, V V Dementiyenko, V B Dorokhov
Public transport driving is a highly demanding activity requiring high skills and responsibility. Shift work, problems with regular sleep schedule negatively impact psychomotor reactions, cognitive functions and ability to react appropriately to the changing environment. For professional drivers all these factors may lead to the increased risk of a road accident. Individual differences in chronotype, cognitive and emotional control are partially genetically determined. AIM: Our study aimed to investigate the possible associations between chronotype parameters, traffic accident history and single nucleotide polymorphisms (SNPs) in a number of genes: RORA (rs1159814), CLOCK (rs12649507), PER3 (rs2640909), NPSR1 (rs324981), NPAS2 (rs4851377), DRD3 (rs6280), SLC6A3 (rs6347), DBH (rs1611125)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28777359/-anxiety-and-sleep-in-experiment-and-clinic
#13
E V Verbitsky
High anxiety is a genetically determined personal trait. It is produced by limbic system and other cerebral structures involved in maintenance of wakefulness and development of sleep. Analysis of experiments on the animals and clinic observations showed that animals and individuals with high personal anxiety have a high risk of anxiety disorders. Inhibition of GABA-benzodiazepine system which is typical for high anxiety dramatically influences sleep duration and sleep quality. Phenazepamum due to its anxiolytic properties deactivates the excitation focus in the brain, jugulates anxiety and normalize sleep...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28777173/restless-legs-syndrome-and-sleep-related-movement-disorders
#14
Lynn Marie Trotti
PURPOSE OF REVIEW: This article provides an update on six sleep-related movement disorders: restless legs syndrome (RLS), periodic limb movement disorder, sleep-related leg cramps, bruxism, rhythmic movement disorder, and propriospinal myoclonus, with an emphasis on RLS. RECENT FINDINGS: RLS is a common sensorimotor disorder that impairs quality of life. RLS is frequently comorbid to neurologic, psychiatric, vascular, and inflammatory diseases. Accumulating evidence implicates the pathophysiology of RLS as a state of dopamine dysfunction and iron deficiency that occurs on a background of genetic susceptibility conferred by 6 gene polymorphisms...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28770976/non-steroidal-anti-inflammatory-drugs-nsaids-for-chronic-non-cancer-pain-in-children-and-adolescents
#15
REVIEW
Christopher Eccleston, Tess E Cooper, Emma Fisher, Brian Anderson, Nick Mr Wilkinson
BACKGROUND: Pain is a common feature of childhood and adolescence around the world, and for many young people, that pain is chronic. The World Health Organization guidelines for pharmacological treatments for children's persisting pain acknowledge that pain in children is a major public health concern of high significance in most parts of the world. While in the past pain was largely dismissed and was frequently left untreated, views on children's pain have changed over time, and relief of pain is now seen as important...
August 2, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28764741/the-role-of-melatonin-in-the-onset-and-progression-of-type-3-diabetes
#16
REVIEW
Juhyun Song, Daniel J Whitcomb, Byeong C Kim
Alzheimer's disease (AD) is defined by the excessive accumulation of toxic peptides, such as beta amyloid (Aβ) plaques and intracellular neurofibrillary tangles (NFT). The risk factors associated with AD include genetic mutations, aging, insulin resistance, and oxidative stress. To date, several studies that have demonstrated an association between AD and diabetes have revealed that the common risk factors include insulin resistance, sleep disturbances, blood brain barrier (BBB) disruption, and altered glucose homeostasis...
August 1, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28760912/when-sleep-related-hypermotor-epilepsy-she-met-charles-darwin-and-francis-galton
#17
Liborio Parrino, Giovanni Pavesi
Sleep-related hypermotor epilepsy (SHE) is characterized by short-lasting seizures patterned by repetitive and stereotyped motor events in the same person. In autosomal dominant SHE, genetic factors play a well-known key role. In The Expression of Emotions in Man and Animals, Charles Darwin quotes a plausible example of SHE illustrated by his cousin Sir Francis Galton: "the gentleman…lay fast asleep on his back in bed, raising his right arm slowly in front of his face, up to his forehead, and then dropping it with a jerk, so that the wrist fell heavily on the bridge of his nose...
August 1, 2017: Neurology
https://www.readbyqxmd.com/read/28755358/social-functioning-and-behaviour-in-mucopolysaccharidosis-ih-hurlers-syndrome
#18
Annukka Lehtonen, Stewart Rust, Simon Jones, Richard Brown, Dougal Hare
BACKGROUND: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline. This study aimed to investigate the behavioural phenotype of MPS-IH treated by haematopoietic cell transplantation, focusing on social functioning and sleep. Parental stress was also measured. METHODS: Participants were 22 children with MPS-IH (mean age 9 years 1 month), of whom 10 were male (45%)...
July 29, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28754889/genetic-and-neuronal-mechanisms-governing-the-sex-specific-interaction-between-sleep-and-sexual-behaviors-in-drosophila
#19
Dandan Chen, Divya Sitaraman, Nan Chen, Xin Jin, Caihong Han, Jie Chen, Mengshi Sun, Bruce S Baker, Michael N Nitabach, Yufeng Pan
Animals execute one particular behavior among many others in a context-dependent manner, yet the mechanisms underlying such behavioral choice remain poorly understood. Here we studied how two fundamental behaviors, sex and sleep, interact at genetic and neuronal levels in Drosophila. We show that an increased need for sleep inhibits male sexual behavior by decreasing the activity of the male-specific P1 neurons that coexpress the sex determination genes fru (M) and dsx, but does not affect female sexual behavior...
July 28, 2017: Nature Communications
https://www.readbyqxmd.com/read/28747136/the-relationship-between-apolipoprotein-%C3%AE%C2%B54-carrier-status-and-sleep-characteristics-in-cognitively-normal-older-adults
#20
Melike Kahya, Eric Vidoni, Jeffrey M Burns, Ashley N Thompson, Kayla Meyer, Catherine F Siengsukon
The apolipoprotein (APOE) ε4 allele, a well-described genetic risk factor for late-onset Alzheimer disease (AD), is associated with sleep disturbances even in cognitively normal older adults, although it is not clear whether this association is independent of sleep apnea. We sought to extend previous studies by examining whether cognitively normal older adults without self-reported sleep apnea who carry the APOE ε4 allele have altered sleep characteristics compared to noncarriers. Data from N = 36 (APOE ε4 carriers [n = 9], noncarriers [n = 27]) cognitively normal older adults (Clinical Dementia Rating [CDR] scale = 0) without self-reported sleep apnea were used for these analyses...
January 1, 2017: Journal of Geriatric Psychiatry and Neurology
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