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https://www.readbyqxmd.com/read/27918760/risk-factors-protective-factors-and-current-recommendations-to-reduce-sudden-infant-death-syndrome-a-review
#1
Rebecca F Carlin, Rachel Y Moon
Importance: Sudden infant death syndrome remains the leading cause of death in infants aged 1 month to 1 year in the United States. Observations: While its exact cause is unknown, sudden infant death syndrome is believed to be multifactorial, ie, occurs in infants with underlying biological vulnerability who experience an exogenous stressor, such as prone/side sleeping or soft bedding, during a critical developmental period. Much genetic and physiologic evidence points to impaired arousal responses to hypercarbia and hypoxia, which ultimately leads to asphyxia...
December 5, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27918326/anesthetic-considerations-for-patients-with-congenital-central-hypoventilation-syndrome-a-systematic-review-of-the-literature
#2
Saptashree M Basu, Frances F Chung, Shireen F AbdelHakim, Jean Wong
Congenital central hypoventilation syndrome (CCHS) is a form of sleep-disordered breathing characterized by a diminished drive to breathe during sleep, despite progressive hypercapnia and hypoxia. The condition results from mutations in the paired-like homeobox 2B (PHOX2B) gene. The aim of this review was to conduct a systematic search of the current data on CCHS as it relates to perioperative considerations and to discuss the classification, prevalence, pathophysiology, presentation, genetics, and management of the condition...
December 1, 2016: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27913904/association-between-brain-structural-anomalies-electroencephalogram-and-history-of-seizures-in-mucopolysaccharidosis-type-ii-hunter-syndrome
#3
Ramón Ernesto Jiménez-Arredondo, Aniel Jessica Leticia Brambila-Tapia, Francisco Miguel Mercado-Silva, Martha Ortiz-Aranda, Verónica Benites-Godinez, Graciela Olmos-García-de-Alba, Luis Eduardo Figuera
Mucopolysaccharidosis type II or Hunter syndrome (MPS II) is a genetic disease that can course with intellectual impairment and central nervous system (CNS) alterations. To date, no report has documented electroencephalogram (EEG) measures associated with CNS alterations, detected by imaging studies, and the history of seizures in patients with MPS II. Therefore, we decided to search this association. We included 9 patients with MPS II and performed imaging studies of the brain to detect the presence of cortico-subcortical atrophy, enlarged subarachnoid space and supratentorial ventricular size...
December 2, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27908540/the-role-of-race-and-ethnicity-in-sleep-circadian-rhythms-and-cardiovascular-health
#4
REVIEW
Kieren J Egan, Kristen L Knutson, Alexandre C Pereira, Malcolm von Schantz
In recent years, strong evidence has emerged suggesting that insufficient duration, quality, and/or timing of sleep are associated with cardiovascular disease (CVD), and various mechanisms for this association have been proposed. Such associations may be related to endophenotypic features of the sleep homeostat and the circadian oscillator, or may be state-like effects of the environment. Here, we review recent literature on sleep, circadian rhythms and CVD with a specific emphasis on differences between racial/ethnic groups...
June 3, 2016: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/27904735/urinary-metabolomics-of-young-italian-autistic-children-supports-abnormal-tryptophan-and-purine-metabolism
#5
Federica Gevi, Lello Zolla, Stefano Gabriele, Antonio M Persico
BACKGROUND: Autism spectrum disorder (ASD) is still diagnosed through behavioral observation, due to a lack of laboratory biomarkers, which could greatly aid clinicians in providing earlier and more reliable diagnoses. Metabolomics on human biofluids provides a sensitive tool to identify metabolite profiles potentially usable as biomarkers for ASD. Initial metabolomic studies, analyzing urines and plasma of ASD and control individuals, suggested that autistic patients may share some metabolic abnormalities, despite several inconsistencies stemming from differences in technology, ethnicity, age range, and definition of "control" status...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27898092/transposon-mediated-generation-of-cellular-and-mouse-models-of-splicing-mutations-to-assess-the-efficacy-of-snrna-based-therapeutics
#6
Elena Barbon, Mattia Ferrarese, Laetitia van Wittenberghe, Peggy Sanatine, Giuseppe Ronzitti, Fanny Collaud, Pasqualina Colella, Mirko Pinotti, Federico Mingozzi
Disease-causing splicing mutations can be rescued by variants of the U1 small nuclear RNA (U1snRNAs). However, the evaluation of the efficacy and safety of modified U1snRNAs as therapeutic tools is limited by the availability of cellular and animal models specific for a given mutation. Hence, we exploited the hyperactive Sleeping Beauty transposon system (SB100X) to integrate human factor IX (hFIX) minigenes into genomic DNA in vitro and in vivo. We generated stable HEK293 cell lines and C57BL/6 mice harboring splicing-competent hFIX minigenes either wild type (SChFIX-wt) or mutated (SChFIXex5-2C)...
November 29, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27895820/sleep-circadian-dysrhythmia-obesity-and-diabetes
#7
REVIEW
Gumpeny Ramachandra Sridhar, Narasimhadevara Santhi Nirmala Sanjana
Synchrony of biological processes with environmental cues developed over millennia to match growth, reproduction and senescence. This entails a complex interplay of genetic, metabolic, chemical, light, hormonal and hedonistic factors across life forms. Sleep is one of the most prominent rhythms where such a match is established. Over the past 100 years or so, it has been possible to disturb the synchrony between sleep-wake cycle and environmental cues. Development of electric lights, shift work and continual accessibility of the internet has disrupted this match...
November 15, 2016: World Journal of Diabetes
https://www.readbyqxmd.com/read/27894273/prevalence-of-non-febrile-seizures-in-children-with-idiopathic-autism-spectrum-disorder-and-their-unaffected-siblings-a-retrospective-cohort-study
#8
Lena M McCue, Louise H Flick, Kimberly A Twyman, Hong Xian, Thomas E Conturo
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous disorder characterized not only by deficits in communication and social interactions but also a high rate of co-occurring disorders, including metabolic abnormalities, gastrointestinal and sleep disorders, and seizures. Seizures, when present, interfere with cognitive development and are associated with a higher mortality rate in the ASD population. METHODS: To determine the relative prevalence of non-febrile seizures in children with idiopathic ASD from multiplex and simplex families compared with the unaffected siblings in a cohort of 610 children with idiopathic ASD and their 160 unaffected siblings, participating in the Autism Genetic Resource Exchange project, the secondary analysis was performed comparing the life-time prevalence of non-febrile seizures...
November 28, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27870653/apolipoprotein-l1-and-apolipoprotein-a-iv-and-their-association-with-kidney-function
#9
Florian Kronenberg
PURPOSE OF REVIEW: Chronic kidney disease (CKD) is a common disease with an estimated prevalence of 10-12%. There are pronounced differences between ethnicities with a 3-fold to 4-fold higher lifetime risk for end-stage kidney disease in African Americans compared to European Americans. The purpose of this review was to discuss recent findings on two apolipoproteins (apolipoprotein L1 and A-IV) in the context of kidney disease and kidney function. RECENT FINDINGS: The observation that certain apolipoprotein L1 risk genotypes that are only present in African Americans might explain a major fraction of the ethnic differences for nondiabetic CKD has set the stage for this otherwise under-researched apolipoprotein...
November 18, 2016: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/27857041/narcolepsy-with-cataplexy-in-a-child-with-charcot-marie-tooth-disease-case-report
#10
(no author information available yet)
We report an 8-year-old boy diagnosed with both CMT1 and narcolepsy, which were not reported simultaneously presenting in one person. The boy presented with a history of increased suddenly falling frequency and excessive daytime sleepiness for 3 months. CMT1 was diagnosed by electrophysiology and genetic testing. Narcolepsy had not been diagnosed until the frequently falling caused by sudden and transient episodes of legs weakness triggered by emotion was found. Multiple sleep latency test showed multiple sleep onset REM periods with reduced sleep latency...
September 18, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27855753/familial-aggregation-of-insomnia
#11
Denise C Jarrin, Amélie Rochefort, Hans Ivers, Chantal Mérette, Yves A Dauvilliers, Josée Savard, Mélanie LeBlanc, Charles M Morin
STUDY OBJECTIVES: There is little information about familial aggregation of insomnia, however, this type of information is important to (1) improve our understanding of insomnia risk factors and (2) to design more effective treatment and prevention programs. This study aimed to investigate evidence of familial aggregation of insomnia among first-degree relatives of probands with and without insomnia. METHODS: Cases (n=134) and controls (n=145) enrolled in a larger epidemiological study were solicited to invite their first-degree relatives and spouses to complete a standardized sleep/insomnia survey...
November 14, 2016: Sleep
https://www.readbyqxmd.com/read/27855737/genetic-basis-of-chronotype-in-humans-insights-from-three-landmark-gwas
#12
David A Kalmbach, Logan D Schneider, Joseph Cheung, Sarah J Bertrand, Thiruchelvam Kariharan, Allan I Pack, Philip R Gehrman
Chronotype, or diurnal preference, refers to behavioral manifestations of the endogenous circadian system that governs preferred timing of sleep and wake. As variations in circadian timing and system perturbations are linked to disease development, the fundamental biology of chronotype has received attention for its role in the regulation and dysregulation of sleep and related medical and psychiatric illnesses. Twin and family studies have shown that chronotype is a heritable trait, thus directing attention toward its genetic basis...
October 28, 2016: Sleep
https://www.readbyqxmd.com/read/27855167/assessment-of-olfactory-function-in-mapt-associated-neurodegenerative-disease-reveals-odor-identification-irreproducibility-as-a-non-disease-specific-general-characteristic-of-olfactory-dysfunction
#13
Katerina Markopoulou, Bruce A Chase, Piotr Robowski, Audrey Strongosky, Ewa Narożańska, Emilia J Sitek, Mariusz Berdynski, Maria Barcikowska, Matt C Baker, Rosa Rademakers, Jarosław Sławek, Christine Klein, Katja Hückelheim, Meike Kasten, Zbigniew K Wszolek
Olfactory dysfunction is associated with normal aging, multiple neurodegenerative disorders, including Parkinson's disease, Lewy body disease and Alzheimer's disease, and other diseases such as diabetes, sleep apnea and the autoimmune disease myasthenia gravis. The wide spectrum of neurodegenerative disorders associated with olfactory dysfunction suggests different, potentially overlapping, underlying pathophysiologies. Studying olfactory dysfunction in presymptomatic carriers of mutations known to cause familial parkinsonism provides unique opportunities to understand the role of genetic factors, delineate the salient characteristics of the onset of olfactory dysfunction, and understand when it starts relative to motor and cognitive symptoms...
2016: PloS One
https://www.readbyqxmd.com/read/27847686/parkinson-disease-and-cognitive-impairment-five-new-things
#14
REVIEW
Albert A Davis, Brad Racette
PURPOSE OF REVIEW: While the distinctive motor symptoms of Parkinson disease (PD) have been described for centuries, cognitive impairment has only recently been recognized as a central feature. Studies have yielded clues to the etiology and natural history of cognitive impairment in PD, but much remains unclear and effective therapies are needed. RECENT FINDINGS: Longitudinal cohort studies demonstrate that almost all patients with PD will develop dementia if they live long enough...
October 2016: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/27825448/dormancy-illuminating-how-a-microbial-sleeping-beauty-awakens
#15
R Gary Sawers
Nitrogen limitation induces dormancy in the cyanobacterium Synechocystis. During dormancy, the bacterium neither photosynthesizes nor divides, yet it maintains low-level metabolic activity. A new study shows how provision of a nitrogen source initiates a regimented genetic program that initially kick-starts metabolism and ultimately photosynthesis.
November 7, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27823711/central-sleep-apnea-in-children-experience-at-a-single-center
#16
Orlane Felix, Alessandro Amaddeo, Jorge Olmo Arroyo, Michel Zerah, Stephanie Puget, Valerie Cormier-Daire, Genevieve Baujat, Graziella Pinto, Marta Fernandez-Bolanos, Brigitte Fauroux
OBJECTIVE: Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of age are scarce. The aim of the study was to describe the sleep characteristics, underlying disorders, management, and outcome of children with CSA. PATIENTS/METHODS: A retrospective chart review of all children >1 year of age, diagnosed with CSA on a laboratory sleep study during a 20-month period, was performed. CSA was defined by a central apnea index (CAI) >5 events/h...
September 2016: Sleep Medicine
https://www.readbyqxmd.com/read/27816898/epilepsy-in-ring-chromosome-20-syndrome
#17
Aglaia Vignoli, Francesca Bisulli, Francesca Darra, Massimo Mastrangelo, Carmen Barba, Lucio Giordano, Katherine Turner, Elena Zambrelli, Valentina Chiesa, Stefania Bova, Isabella Fiocchi, Angela Peron, Ilaria Naldi, Giuseppe Milito, Laura Licchetta, Paolo Tinuper, Renzo Guerrini, Bernardo Dalla Bernardina, Maria Paola Canevini
OBJECTIVE: Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, often accompanied by cognitive impairment. We characterized the electro-clinical phenotype and the long-term course of epilepsy in a large series. METHODS: We reviewed the electro-clinical phenotype of 25 patients (aged 8-59 years), and assessed the relationship between epilepsy severity and clinical and/or genetic variables. We also searched for reports of patients diagnosed with r(20) syndrome in the literature, included those whose clinical information was sufficiently accurate, and compared their clinical features with the ones of our patients...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27814712/chronobiology-sleep-related-risk-factors-and-light-therapy-in-perinatal-depression-the-life-on-project
#18
Simone Baiardi, Fabio Cirignotta, Alessandro Cicolin, Corrado Garbazza, Armando D'Agostino, Orsola Gambini, Alessandra Giordano, Mariapaola Canevini, Elena Zambrelli, Anna Maria Marconi, Susanna Mondini, Stefan Borgwardt, Christian Cajochen, Nicola Rizzo, Mauro Manconi
BACKGROUND: Perinatal depression (PND) has an overall estimated prevalence of roughly 12 %. Untreated PND has significant negative consequences not only on the health of the mothers, but also on the physical, emotional and cognitive development of their children. No certain risk factors are known to predict PND and no completely safe drug treatments are available during pregnancy and breastfeeding. Sleep and depression are strongly related to each other because of a solid reciprocal causal relationship...
November 4, 2016: BMC Psychiatry
https://www.readbyqxmd.com/read/27813193/the-importance-of-and-potential-for-continuous-monitoring-of-intraocular-pressure
#19
REVIEW
Charles W McMonnies
Monitoring intraocular pressure (IOP) is a critically important part of glaucoma management; however, clinical tonometry predominantly involves sitting postures and is unable to detect variations in response to posture changes, muscular effort, deep respirations and during a wide range of activities, such as playing high wind-resistance instruments and wearing swimming goggles in addition to eye touching and rubbing. For example, the usefulness of 24-hour tonometric phasing may be increased, if nocturnal assessments included side and prone sleeping postures rather than being limited to supine posture tonometry...
November 3, 2016: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/27807620/genetic-background-of-enhanced-radioresistance-in-an-anhydrobiotic-insect-transcriptional-response-to-ionizing-radiations-and-desiccation
#20
Alina Ryabova, Kyosuke Mukae, Alexander Cherkasov, Richard Cornette, Elena Shagimardanova, Tetsuya Sakashita, Takashi Okuda, Takahiro Kikawada, Oleg Gusev
It is assumed that resistance to ionizing radiation, as well as cross-resistance to other abiotic stresses, is a side effect of the evolutionary-based adaptation of anhydrobiotic animals to dehydration stress. Larvae of Polypedilum vanderplanki can withstand prolonged desiccation as well as high doses of ionizing radiation exposure. For a further understanding of the mechanisms of cross-tolerance to both types of stress exposure, we profiled genome-wide mRNA expression patterns using microarray techniques on the chironomid larvae collected at different stages of desiccation and after exposure to two types of ionizing radiation-70 Gy of high-linear energy transfer (LET) ions ((4)He) and the same dose of low-LET radiation (gamma rays)...
November 2, 2016: Extremophiles: Life Under Extreme Conditions
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