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Sleep genetics

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https://www.readbyqxmd.com/read/29673929/sleep-disorders-in-adolescents-and-young-adults-insights-into-types-relationship-to-obesity-and-high-altitude-and-possible-lines-of-management
#1
REVIEW
Ahmed M Kabel, Amani M Al Thumali, Khayriah A Aldowiala, Raghad D Habib, Shoroq S Aljuaid, Huda A Alharthi
A sleep disorder is a medical disorder of the sleep pattern of a person that may be serious enough to interfere with normal physical, mental and emotional functioning. Disruptions in sleep can be caused by a variety of causes, from teeth grinding to night terrors. Sleep disorders are usually prevalent among adolescents and young adults, possibly due to factors related to life style, dietary habits, hormonal and emotional disturbances. Other factors that may precipitate sleep disorders include environmental, psychological and genetic factors...
April 11, 2018: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/29673480/thalamic-reticular-dysfunction-as-a-circuit-endophenotype-in-neurodevelopmental-disorders
#2
REVIEW
Alexandra Krol, Ralf D Wimmer, Michael M Halassa, Guoping Feng
Diagnoses of behavioral disorders such as autism spectrum disorder and schizophrenia are based on symptomatic descriptions that have been difficult to connect to mechanism. Although psychiatric genetics provide insight into the genetic underpinning of such disorders, with a majority of cases explained by polygenic factors, it remains difficult to design rational treatments. In this review, we highlight the value of understanding neural circuit function both as an intermediate level of explanatory description that links gene to behavior and as a pathway for developing rational diagnostics and therapeutics for behavioral disorders...
April 18, 2018: Neuron
https://www.readbyqxmd.com/read/29673146/predictors-of-response-to-ketamine-in-treatment-resistant-major-depressive-disorder-and-bipolar-disorder
#3
Carola Rong, Caroline Park, Joshua D Rosenblat, Mehala Subramaniapillai, Hannah Zuckerman, Dominika Fus, Yena L Lee, Zihang Pan, Elisa Brietzke, Rodrigo B Mansur, Danielle S Cha, Leanna M W Lui, Roger S McIntyre
OBJECTIVES: Extant evidence indicates that ketamine exerts rapid antidepressant effects in treatment-resistant depressive (TRD) symptoms as a part of major depressive disorder (MDD) and bipolar disorder (BD). The identification of depressed sub-populations that are more likely to benefit from ketamine treatment remains a priority. In keeping with this view, the present narrative review aims to identify the pretreatment predictors of response to ketamine in TRD as part of MDD and BD. METHOD: Electronic search engines PubMed/MEDLINE, ClinicalTrials...
April 17, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29672598/long-qt-molecular-autopsy-in-sudden-unexplained-death-in-the-young-1-40-years-old-lessons-learnt-from-an-eight-year-experience-in-new-zealand
#4
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner
BACKGROUND: To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand. METHODS: Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive families. RESULTS: During the study period, 365 SUDY cases were referred for molecular autopsy. 128 cases (35%) underwent LQTS genetic testing. 31 likely pathogenic variants were identified in 27 cases (21%); SCN5A (14/31, 45%), KCNH2 (7/31, 22%), KCNQ1 (4/31, 13%), KCNE2 (3/31, 10%), KCNE1 (2/31, 7%), KCNJ2 (1/31, 3%)...
2018: PloS One
https://www.readbyqxmd.com/read/29665529/electroclinical-characteristics-and-syndromic-associations-of-eye-condition-related-visual-sensitive-epilepsies-a-cross-sectional-study
#5
Kalyani Dilip Karkare, Ramshekhar N Menon, Ashalatha Radhakrishnan, Ajith Cherian, Sanjeev V Thomas
PURPOSE: The systematic study of visual phenomena such as eye closure (ECLS), eye-closed/fixation-off sensitivity (FOS) [terminology proposed as eye-condition sensitive (ECS) epilepsy] distinct from photosensitivity is rarely explored in literature. METHODS: Clinical, electroencephalographic (EEG) and imaging records of patients attending an epilepsy clinic were screened. Inclusion criterion was demonstrable electrographic visual sensitivitiy in the form of ECS parameters with/without photosensitivity...
March 30, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29664058/relationships-between-rapid-eye-movement-sleep-behavior-disorder-and-neurodegenerative-diseases-clinical-assessments-biomarkers-and-treatment
#6
REVIEW
Min Li, Li Wang, Jiang-Hong Liu, Shu-Qin Zhan
Objective: Rapid eye movement sleep behavior disorder (RBD) is characterized by dream enactment and loss of muscle atonia during rapid eye movement sleep. RBD is closely related to α-synucleinopathies including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. Many studies have investigated the markers of imaging and neurophysiological, genetic, cognitive, autonomic function of RBD and their predictive value for neurodegenerative diseases. This report reviewed the progress of these studies and discussed their limitations and future research directions...
April 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29618588/sleep-active-neurons-conserved-motors-of-sleep
#7
REVIEW
Henrik Bringmann
Sleep is crucial for survival and well-being. This behavioral and physiological state has been studied in all major genetically accessible model animals, including rodents, fish, flies, and worms. Genetic and optogenetic studies have identified several neurons that control sleep, making it now possible to compare circuit mechanisms across species. The "motor" of sleep across animal species is formed by neurons that depolarize at the onset of sleep to actively induce this state by directly inhibiting wakefulness...
April 2018: Genetics
https://www.readbyqxmd.com/read/29616340/dopamine-and-wakefulness-pharmacology-genetics-and-circuitry
#8
Jonathan P Wisor
Over the period of decades in the mid to late twentieth century, arousal-promoting functions were attributed to neuromodulators including serotonin, hypocretin, histamine, and noradrenaline. For some time, a relatively minor role in regulating sleep and wake states was ascribed to dopamine and the dopamine-producing cells of the ventral tegmental area, despite the fact that dopaminergic signaling is a major target, if not the primary target, for wake-promoting agents. In recent years, due to observations from human genetic studies, pharmacogenetic studies in animal models, and the increasingly sophisticated methods used to manipulate the nervous systems of experimental animals, it has become clear that dopaminergic signaling is central to the regulation of arousal...
April 4, 2018: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29614896/modeling-strengthens-molecular-link-between-circadian-polymorphisms-and-major-mood-disorders
#9
Amanda R Liberman, Lumbardh Halitjaha, Ahmet Ay, Krista K Ingram
Anxiety and other mood disorders, such as major depressive disorder (MDD) and seasonal affective disorder (SAD), affect nearly one-fifth of the global population and disproportionately affect young adults. Individuals affected by mood disorders are frequently plagued by sleep and circadian problems, and recent genetic studies provide ample support for the association of circadian and sleep syndromes with depression and anxiety. Mathematical modeling has been crucial in understanding some of the essential features of the mammalian circadian clock and is now a vital tool for dissecting how circadian genes regulate the molecular mechanisms that influence mood...
April 1, 2018: Journal of Biological Rhythms
https://www.readbyqxmd.com/read/29607311/shiftwork-mediated-disruptions-of-circadian-rhythms-and-sleep-homeostasis-cause-serious-health-problems
#10
REVIEW
Suliman Khan, Pengfei Duan, Lunguang Yao, Hongwei Hou
Shiftwork became common during the last few decades with the growing demands of human life. Despite the social inactivity and irregularity in habits, working in continuous irregular shifts causes serious health issues including sleep disorders, psychiatric disorders, cancer, and metabolic disorders. These health problems arise due to the disruption in circadian clock system, which is associated with alterations in genetic expressions. Alteration in clock controlling genes further affects genes linked with disorders including major depression disorder, bipolar disorder, phase delay and phase advance sleep syndromes, breast cancer, and colon cancer...
2018: International Journal of Genomics
https://www.readbyqxmd.com/read/29606605/investigation-of-non-motor-symptoms-in-first-degree-relatives-of-patients-with-parkinson-s-disease
#11
Jiang-Bing Liu, Jun-Ling Leng, Xin-Jiang Zhang, Zhao-Xia Wang, Zuo-Wei Duan, Cheng-Jie Mao, Chun-Feng Liu
OBJECTIVE: Non-motor symptoms (NMS) are important prodromal characteristics of Parkinson's disease (PD). However, the incidence of NMS in first-degree relatives, such as siblings of PD patients, is still unknown. METHODS: A total of 98 PD patients of the Affiliated Hospital of Yangzhou University were recruited; 210 siblings of these patients were included in a first-degree relatives (FDR) group and 250 healthy individuals were included in a control group. Various scales were used to assess NMS, including depression, anxiety, cognitive function, sleep status, constipation, daytime sleepiness, Rapid-Eye-Movement Sleep Behavior Disorder (RBD), and Restless Legs Syndrome (RLS)...
March 27, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29606092/rna-seq-analysis-validates-the-use-of-culture-derived-trypanosoma-brucei-and-provides-new-markers-for-mammalian-and-insect-life-cycle-stages
#12
Arunasalam Naguleswaran, Nicholas Doiron, Isabel Roditi
BACKGROUND: Trypanosoma brucei brucei, the parasite causing Nagana in domestic animals, is closely related to the parasites causing sleeping sickness, but does not infect humans. In addition to its importance as a pathogen, the relative ease of genetic manipulation and an innate capacity for RNAi extend its use as a model organism in cell and infection biology. During its development in its mammalian and insect (tsetse fly) hosts, T. b. brucei passes through several different life-cycle stages...
April 2, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29604255/genetic-ancestry-for-sleep-research-leveraging-health-inequalities-to-identify-causal-genetic-variants
#13
REVIEW
Bharati Prasad, Richa Saxena, Namni Goel, Sanjay R Patel
Recent evidence has highlighted the health inequalities in sleep behaviors and sleep disorders that adversely impact outcomes in select populations, including African Americans and Hispanic Americans. Race-related sleep health inequalities are ascribed to differences in multilevel and interlinked health determinants, such as sociodemographic factors, health behaviors and biology. African Americans and Hispanic Americans are admixed populations whose genetic inheritance combines two or more ancestral populations originating from different continents...
March 28, 2018: Chest
https://www.readbyqxmd.com/read/29599979/the-phenotype-psychotype-and-genotype-of-bruxism
#14
Norma Cruz-Fierro, Margarita Martínez-Fierro, Ricardo M Cerda-Flores, Mayra A Gómez-Govea, Iván Delgado-Enciso, Laura E Martínez-De-Villarreal, Mónica T González-Ramírez, Irám Pablo Rodríguez-Sánchez
Bruxism is a jaw muscle activity that involves physio-pathological, psycho-social, hereditary and genetic factors. The purpose of this study was to determine the associations between self-reported bruxism, anxiety, and neuroticism personality trait with the rs6313 polymorphism in the gene HTR2A . A sample of 171 subjects of both sexes (14-53 years of age) was included. The control group (group 1, n=60) exhibited no signs or symptoms of bruxism. The case group had signs and symptoms of bruxism (n=112) and was subdivided into group 2, bruxism during sleep (n=22); group 3, awake bruxism (n=44); and group 4 combined bruxism (n=46)...
March 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29590381/the-circadian-rhythm-related-mtnr1b-genotype-gestational-weight-gain-and-postpartum-glycemic-changes
#15
Hoirun Nisa, Kevin H T Qi, Junhong Leng, Tao Zhou, Huikun Liu, Weiqin Li, Leishen Wang, Nan Li, Gang Hu, Lu Qi
Context: Disturbed circadian rhythms and sleep quality during pregnancy have been related to gestational weight gain and gestational diabetes mellitus (GDM), which affect postpartum glucose metabolism and future risk of type 2 diabetes. Objective: We assessed whether the circadian rhythm-related melatonin receptor 1B (MTNR1B) genotype was associated with 1-5 years of postpartum glycemic changes among women with a history of GDM; and whether gestational weight gain modified such associations...
March 23, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29587340/genetic-variations-associated-with-sleep-disorders-in-patients-with-schizophrenia-a-systematic-review
#16
REVIEW
Konstantinos Assimakopoulos, Katerina Karaivazoglou, Maria Skokou, Marina Kalogeropoulou, Panagiotis Kolios, Philippos Gourzis, George P Patrinos, Evangelia Eirini Tsermpini
Background: Schizophrenic patients commonly suffer from sleep disorders which are associated with acute disease severity, worsening prognoses and a poorer quality of life. Research is attempting to disentangle the complex interplay between schizophrenia and sleep disturbances by focusing not only on demographic and clinical characteristics, but also on the identification of genetic factors. Methods: Here, we performed a systematic literature review on the topic of genetic variations in sleep-disordered schizophrenic patients in an attempt to identify high quality investigations reporting scientifically sound and clinically useful data...
March 24, 2018: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/29587177/advances-in-functional-genetic-screening-with-transposons-and-crispr-cas9-to-illuminate-cancer-biology
#17
REVIEW
Kathryn A O'Donnell
Large-scale genome sequencing studies have identified a wealth of mutations in human tumors and have dramatically advanced the field of cancer genetics. However, the functional consequences of an altered gene in tumor progression cannot always be inferred from mutation status alone. This underscores the critical need for complementary methods to assign functional significance to mutated genes in cancer. Transposons are mobile genetic elements that serve as powerful tools for insertional mutagenesis. Over the last decade, investigators have employed mouse models with on-demand transposon-mediated mutagenesis to perform unbiased genetic screens to identify clinically relevant genes that participate in the pathogenesis of human cancer...
March 24, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29583070/a-developmental-cascade-perspective-of-pediatric-obesity-conceptual-model-and-scoping-review
#18
Justin D Smith, Kaitlyn N Egan, Zorash Montaño, Spring Dawson-McClure, Danielle E Jake-Schoffman, Madeline Larson, Sara M St George
Considering the vast ongoing challenge of preventing obesity, the time has come to reconceptualize and change the way we study the development of obesity in childhood. The developmental cascade model, which refers to the cumulative consequences and spreading downstream effects of risk and protective factors, offers a longitudinal framework for understanding obesity. This perspective elucidates the way an accumulation of risk factors, across and within biopsychosocial spheres and phases of development, can propel individuals toward obesity...
March 27, 2018: Health Psychology Review
https://www.readbyqxmd.com/read/29579119/high-levels-of-caregiver-burden-in-prader-willi-syndrome
#19
Nathalie Kayadjanian, Lauren Schwartz, Evan Farrar, Katherine Anne Comtois, Theresa V Strong
OBJECTIVES: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that is characterized by hyperphagia, developmental delay, incomplete sexual development, mild-to-moderate intellectual disability, and a variety of challenging behavioral and psychiatric symptoms. The characteristics of PWS can be difficult for caregivers to cope with and are likely to cause significant and long- term caregiver burden. The current study examined burden in 142 caregivers of children and adults with PWS living in the US using the Zarit Burden Interview (ZBI)...
2018: PloS One
https://www.readbyqxmd.com/read/29576872/pfo-closure-in-high-risk-patient-with-paradoxical-arterial-embolism-deep-vein-thrombosis-pulmonary-embolism-and-factor-v-leiden-genetic-mutation
#20
A Parikh, T P Vacek
Occurrence of paradoxical arterial embolism may cause the first symptoms in patients with a coexisting hypercoagulable state and patent foramen ovale (PFO). This can result in significant morbidity and mortality depending on the location of the embolism. The risks and benefits of closure of small PFOs have not been well elucidated in prior studies. We describe a patient with a history of Factor V Leiden heterozygosity who presented with left arm pain secondary to arterial embolism. The patient was a 51-year-old male who initially presented to the emergency department after awaking from sleep with progressive, severe, burning left arm pain...
March 2018: Oxford Medical Case Reports
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