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Sleep genetics

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https://www.readbyqxmd.com/read/28637196/chronological-change-of-right-ventricle-by-chronic-intermittent-hypoxia-in-mice
#1
Hyung-Ju Cho, Woon Heo, Jung Woo Han, Yong Hyuk Lee, Jin Myung Park, Min Jung Kang, Joo-Heon Yoon, Min Goo Lee, Chang-Hoon Kim, Joo Young Kim
Study Objective: No studies have investigated sequential changes in the heart on MRI, along with observation of functional lung phenotypes and genetics, over the duration of chronic intermittent hypoxia (CIH). We investigated chronological changes in heart and lung phenotypes after CIH using a mouse model to provide new insights into the pathophysiology of sleep apnea-induced cardiovascular disease. Methods: C57BL/6J adult male mice were randomized to 4 weeks or 8 weeks of CIH...
June 20, 2017: Sleep
https://www.readbyqxmd.com/read/28633449/night-work-as-a-risk-factor-of-future-disability-pension-due-to-musculoskeletal-diagnoses-a-prospective-cohort-study-of-swedish-twins
#2
Sanna Kärkkäinen, Annina Ropponen, Jurgita Narusyte, Lisa Mather, Torbjörn Åkerstedt, Karri Silventoinen, Ellenor Mittendorfer-Rutz, Pia Svedberg
Background: This study investigated the associations between night work, sleep and disability pension (DP) due to musculoskeletal disorders (MSD), while controlling for several confounding factors including both genetic factors and shared family background. Methods: The study sample consisted of 27 165 Swedish twin individuals born in 1935-58 with comprehensive survey data on sociodemographic, health and lifestyle factors. Night work was assessed as years of working hours at night at least every now and then, and categorized into 'not at all, 1-10 years and over 10 years'...
June 19, 2017: European Journal of Public Health
https://www.readbyqxmd.com/read/28632874/screening-for-obesity-in-children-and-adolescents-us-preventive-services-task-force-recommendation-statement
#3
David C Grossman, Kirsten Bibbins-Domingo, Susan J Curry, Michael J Barry, Karina W Davidson, Chyke A Doubeni, John W Epling, Alex R Kemper, Alex H Krist, Ann E Kurth, C Seth Landefeld, Carol M Mangione, Maureen G Phipps, Michael Silverstein, Melissa A Simon, Chien-Wen Tseng
Importance: Based on year 2000 Centers for Disease Control and Prevention growth charts, approximately 17% of children and adolescents aged 2 to 19 years in the United States have obesity, and almost 32% of children and adolescents are overweight or have obesity. Obesity in children and adolescents is associated with morbidity such as mental health and psychological issues, asthma, obstructive sleep apnea, orthopedic problems, and adverse cardiovascular and metabolic outcomes (eg, high blood pressure, abnormal lipid levels, and insulin resistance)...
June 20, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28628285/-fibromyalgia-state-of-the-issue-in-2017
#4
REVIEW
A Neuprez, J-M Crielaard
Fibromyalgia (FM), whose diagnostic criteria were originally established in 1990 and updated in 2010, consists of a syndrome characterized by the presence of deep and diffuse musculoskeletal pain associated with other subjective manifestations (sleep, mood, cognitive problems). The prevalence is assessed in the general population at 2.2 %. Various risk factors were identified: age, gender, level of education and socio-economic status. Various etiological hypotheses have been explored, whether in neuroimaging or from the point of view of possible neuroendocrine and cytokine perturbations...
June 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28625682/are-circadian-rhythms-new-pathways-to-understand-autism-spectrum-disorder
#5
M-M Geoffray, A Nicolas, M Speranza, N Georgieff
Autism Spectrum Disorder (ASD) is a frequent neurodevelopmental disorder. ASD is probably the result of intricate interactions between genes and environment altering progressively the development of brain structures and functions. Circadian rhythms are a complex intrinsic timing system composed of almost as many clocks as there are body cells. They regulate a variety of physiological and behavioral processes such as the sleep- wake rhythm. ASD is often associated with sleep disorders and low levels of melatonin...
June 15, 2017: Journal of Physiology, Paris
https://www.readbyqxmd.com/read/28620158/clinical-features-and-sleep-analysis-of-chinese-patients-with-fatal-familial-insomnia
#6
Liyong Wu, Hui Lu, Xianling Wang, Jia Liu, Chaoyang Huang, Jing Ye, Cuijiang Li, Jun Lu, Yuping Wang, Jianping Jia, Shuqin Zhan
This study aimed to examine clinical features, sleep, abnormal sleep-wake transition and non-sleep disturbances as well as lab tests in Chinese fatal familial insomnia (FFI) subjects. Patients with confirmed clinical and laboratory diagnosis of FFI have been retrospectively reviewed. The clinical features and the results of the complementary tests, including polysomnography (PSG), brain imaging and genetic analysis, were used. Two male and three female patients were recruited in this study. Three of the five patients had more comprehensive family medical records...
June 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28620071/multiancestry-study-of-gene-lifestyle-interactions-for-cardiovascular-traits-in-610-475-individuals-from-124-cohorts-design-and-rationale
#7
D C Rao, Yun J Sung, Thomas W Winkler, Karen Schwander, Ingrid Borecki, L Adrienne Cupples, W James Gauderman, Kenneth Rice, Patricia B Munroe, Bruce M Psaty
BACKGROUND: Several consortia have pursued genome-wide association studies for identifying novel genetic loci for blood pressure, lipids, hypertension, etc. They demonstrated the power of collaborative research through meta-analysis of study-specific results. METHODS AND RESULTS: The Gene-Lifestyle Interactions Working Group was formed to facilitate the first large, concerted, multiancestry study to systematically evaluate gene-lifestyle interactions. In stage 1, genome-wide interaction analysis is performed in 53 cohorts with a total of 149 684 individuals from multiple ancestries...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28612405/a-comparative-transcriptomic-analysis-of-development-in-two-astyanax-cavefish-populations
#8
Bethany A Stahl, Joshua B Gross
Organisms that are isolated into extreme environments often evolve extreme phenotypes. However, global patterns of dynamic gene expression changes that accompany dramatic environmental changes remain largely unknown. The blind Mexican cavefish, Astyanax mexicanus, has evolved a number of severe cave-associated phenotypes including loss of vision and pigmentation, craniofacial bone fusions, increased fat storage, reduced sleep, and amplified nonvisual sensory systems. Interestingly, surface-dwelling forms have repeatedly entered different caves throughout Mexico, providing a natural set of "replicate" instances of cave isolation...
June 14, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28598535/functional-impairment-and-risk-of-venous-thrombosis-in-older-adults
#9
Marissa J Engbers, Jeanet W Blom, Mary Cushman, Frits R Rosendaal, Astrid van Hylckama Vlieg
OBJECTIVES: To determine the role of age-specific risk factors for thrombosis in older age, such as functional impairment. DESIGN: Case-control study. SETTING: The Age and Thrombosis-Acquired and Genetic risk factors in the Elderly Study, a two-center study conducted in the Netherlands and the United States from 2008 to 2011. PARTICIPANTS: Individuals aged 70 and older with a first-time deep venous thrombosis in the leg or pulmonary embolism (n = 401) and controls aged 70 and older (n = 431) without a history of thrombosis...
June 9, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28592904/non-motor-features-of-parkinson-disease
#10
REVIEW
Anthony H V Schapira, K Ray Chaudhuri, Peter Jenner
Many of the motor symptoms of Parkinson disease (PD) can be preceded, sometimes for several years, by non-motor symptoms that include hyposmia, sleep disorders, depression and constipation. These non-motor features appear across the spectrum of patients with PD, including individuals with genetic causes of PD. The neuroanatomical and neuropharmacological bases of non-motor abnormalities in PD remain largely undefined. Here, we discuss recent advances that have helped to establish the presence, severity and effect on the quality of life of non-motor symptoms in PD, and the neuroanatomical and neuropharmacological mechanisms involved...
July 2017: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/28587727/-sleep-bruxism-in-children
#11
A Camoin, C Tardieu, I Blanchet, J-D Orthlieb
Bruxism is defined as repetitive activity of the masticatory muscles, characterized by clenching the teeth or teeth grinding and/or by tapping and swaying. This study investigated sleep bruxism. The etiology is multifactorial: mainly central (neuropathic disorder, anxiety) but also genetic and local (posture, mouth breathing). The diagnosis is based primarily on the anamnesis and examination of dental wear and progression over time (photos and dental castings). A diagnostic guide is proposed in this article...
June 3, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28584132/transposon-mutagenesis-identifies-chromatin-modifiers-cooperating-with-ras-in-thyroid-tumorigenesis-and-detects-atxn7-as-a-cancer-gene
#12
Cristina Montero-Conde, Luis J Leandro-Garcia, Xu Chen, Gisele Oler, Sergio Ruiz-Llorente, Mabel Ryder, Iñigo Landa, Francisco Sanchez-Vega, Konnor La, Ronald A Ghossein, Dean F Bajorin, Jeffrey A Knauf, Jesse D Riordan, Adam J Dupuy, James A Fagin
Oncogenic RAS mutations are present in 15-30% of thyroid carcinomas. Endogenous expression of mutant Ras is insufficient to initiate thyroid tumorigenesis in murine models, indicating that additional genetic alterations are required. We used Sleeping Beauty (SB) transposon mutagenesis to identify events that cooperate with Hras(G12V) in thyroid tumor development. Random genomic integration of SB transposons primarily generated loss-of-function events that significantly increased thyroid tumor penetrance in Tpo-Cre/homozygous FR-Hras(G12V) mice...
June 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28582452/heritability-and-genetic-correlation-between-gerd-symptoms-severity-metabolic-syndrome-and-inflammation-markers-in-families-living-in-mexico-city
#13
Arturo Reding-Bernal, Valentin Sánchez-Pedraza, Hortensia Moreno-Macías, Sergio Sobrino-Cossio, María Elizabeth Tejero-Barrera, Ana Isabel Burguete-García, Mireya León-Hernández, María Fabiola Serratos-Canales, Ravindranath Duggirala, Juan Carlos López-Alvarenga
OBJECTIVE: The aim of this study was to estimate the heritability (h2) and genetic correlation (ρG) between GERD symptoms severity, metabolic syndrome components, and inflammation markers in Mexican families. METHODS: Cross-sectional study which included 32 extended families resident in Mexico City. GERD symptoms severity was assessed by the ReQuest in Practice questionnaire. Heritability and genetic correlation were determined using the Sequential Oligogenic Linkage Analysis Routines software...
2017: PloS One
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#14
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28575719/fast-and-slow-ca-2-dependent-hyperpolarization-mechanisms-connect-membrane-potential-and-sleep-homeostasis
#15
REVIEW
Koji L Ode, Takahiro Katsumata, Daisuke Tone, Hiroki R Ueda
Several lines of evidence indicate that the sleep-wake state of cortical neurons is regulated not only through neuronal projections from the lower brain, but also through the cortical neurons' intrinsic ability to initiate a slow firing pattern related to the slow-wave oscillation observed in electroencephalography of the sleeping brain. Theoretical modeling and experiments with genetic and pharmacological perturbation suggest that ion channels and kinases acting downstream of calcium signaling regulate the cortical-membrane potential and sleep duration...
May 30, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28575718/sleep-homeostasis-habits-and-habituation
#16
REVIEW
Vladyslav V Vyazovskiy, Mark E Walton, Stuart N Peirson, David M Bannerman
The importance of sleep for behavioural performance during waking is long-established, but the underlying reasons and mechanisms remain elusive. Waking and sleep are associated with changes in the levels of GluA1 AMPAR subunit in synaptic membranes, while studies using genetically-modified mice have identified an important role for GluA1-dependent synaptic plasticity in a non-associative form of memory that underlies short-term habituation to recently experienced stimuli. Here we posit that sleep may play a role in dishabituation, which restores attentional capacity and maximises the readiness of the animal for learning and goal-directed behaviour during subsequent wakefulness...
May 30, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28559490/adar-rna-editing-below-the-backbone
#17
Liam P Keegan, Anzer Khan, Dragana Vukic, Mary A O'Connell
ADAR RNA editing enzymes (Adenosine Deaminases acting on RNA), that convert adenosine bases to inosines were first identified biochemically thirty years ago. Since then studies on ADARs in genetic model organisms, and evolutionary comparisons between them, continue to reveal a surprising range of pleiotropic biological effects of ADARs. This review focuses on Drosophila melanogaster, which has a single Adar gene encoding a homolog of vertebrate ADAR2 that site-specifically edits hundreds of transcripts to change individual codons in ion channel subunits and membrane and cytoskeletal proteins...
May 30, 2017: RNA
https://www.readbyqxmd.com/read/28555070/absence-seizure-control-by-a-brain-computer-interface
#18
Vladimir A Maksimenko, Sabrina van Heukelum, Vladimir V Makarov, Janita Kelderhuis, Annika Lüttjohann, Alexey A Koronovskii, Alexander E Hramov, Gilles van Luijtelaar
The ultimate goal of epileptology is the complete abolishment of epileptic seizures. This might be achieved by a system that predicts seizure onset combined with a system that interferes with the process that leads to the onset of a seizure. Seizure prediction remains, as of yet, unresolved in absence-epilepsy, due to the sudden onset of seizures. We have developed a real-time absence seizure prediction algorithm, evaluated it and implemented it in an on-line, closed-loop brain stimulation system designed to prevent the spike-wave-discharges (SWDs), typical for absence epilepsy, in a genetic rat model...
May 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28550484/respiratory-involvement-in-ambulant-and-non-ambulant-patients-with-facioscapulohumeral-muscular-dystrophy
#19
Sandra Moreira, Libby Wood, Debbie Smith, Chiara Marini-Bettolo, Michela Guglieri, Grace McMacken, Geraldine Bailey, Anna Mayhew, Robert Muni-Lofra, Gail Eglon, Maggie Williams, Volker Straub, Hanns Lochmüller, Teresinha Evangelista
Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Scale (CSS) scores. Patients were assigned to two severity groups using CSS: mild (scores <3.5) and moderate/severely affected (scores ≥3.5). Forced Vital Capacity (FVC) was classified as severely impaired if less than 50% of the predicted. Statistical analysis was performed using IBM SPSS Statistics 23, tests were two-tailed and the level of significance set at 5%...
June 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28550012/the-genetic-architecture-of-ovariole-number-in-drosophila-melanogaster-genes-with-major-quantitative-and-pleiotropic-effects
#20
Amanda S Lobell, Rachel R Kaspari, Yazmin L Serrano Negron, Susan T Harbison
Ovariole number has a direct role in the number of eggs produced by an insect, suggesting that it is a key morphological fitness trait. Many studies have documented the variability of ovariole number and its relationship to other fitness and life-history traits in natural populations of Drosophila However, the genes contributing to this variability are largely unknown. Here we conducted a genome-wide association study of ovariole number in a natural population of flies. Using mutations and RNAi-mediated knockdown, we confirmed the effects of twenty-four candidate genes on ovariole number, including a novel gene, anneboleyn (formerly CG32000), that impacts both ovariole morphology and numbers of offspring produced...
May 26, 2017: G3: Genes—Genomes—Genetics
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