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https://www.readbyqxmd.com/read/28325617/human-genetics-and-sleep-behavior
#1
REVIEW
Guangsen Shi, David Wu, Louis J Ptáček, Ying-Hui Fu
Why we sleep remains one of the greatest mysteries in science. In the past few years, great advances have been made to better understand this phenomenon. Human genetics has contributed significantly to this movement, as many features of sleep have been found to be heritable. Discoveries about these genetic variations that affect human sleep will aid us in understanding the underlying mechanism of sleep. Here we summarize recent discoveries about the genetic variations affecting the timing of sleep, duration of sleep and EEG patterns...
March 15, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28325373/host-parasite-relationships-and-life-histories-of-trypanosomes-in-australia
#2
C Cooper, P L Clode, C Peacock, R C A Thompson
Trypanosomes constitute a group of flagellate protozoan parasites responsible for a number of important, yet neglected, diseases in both humans and livestock. The most significantly studied include the causative agents of African sleeping sickness (Trypanosoma brucei) and Chagas disease (Trypanosoma cruzi) in humans. Much of our knowledge about trypanosome host-parasite relationships and life histories has come from these two human pathogens. Recent investigations into the diversity and life histories of wildlife trypanosomes in Australia highlight that there exists a great degree of biological and behavioural variation within and between trypanosomes...
2017: Advances in Parasitology
https://www.readbyqxmd.com/read/28323671/codeine-and-opioid-metabolism-implications-and-alternatives-for-pediatric-pain-management
#3
Vidya Chidambaran, Senthilkumar Sadhasivam, Mohamed Mahmoud
PURPOSE OF REVIEW: Use of perioperative opioids for surgical pain management of children presents clinical challenges because of concerns of serious adverse effects including life-threatening respiratory depression. This is especially true for children with history of obstructive sleep apnea. This review will explore current knowledge of clinically relevant factors and genetic polymorphisms that affect opioid metabolism and postoperative outcomes in children. RECENT FINDINGS: Within the past several years, an increasing number of case reports have illustrated clinically important respiratory depression, anoxic brain injuries and even death among children receiving appropriate weight-based dosages of codeine and other opioids for analgesia at home setting particularly following tonsillectomy...
March 18, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28319090/a-single-copy-sleeping-beauty-transposon-mutagenesis-screen-identifies-new-pten-cooperating-tumor-suppressor-genes
#4
Jorge de la Rosa, Julia Weber, Mathias Josef Friedrich, Yilong Li, Lena Rad, Hannes Ponstingl, Qi Liang, Sandra Bernaldo de Quirós, Imran Noorani, Emmanouil Metzakopian, Alexander Strong, Meng Amy Li, Aurora Astudillo, María Teresa Fernández-García, María Soledad Fernández-García, Gary J Hoffman, Rocío Fuente, George S Vassiliou, Roland Rad, Carlos López-Otín, Allan Bradley, Juan Cadiñanos
The overwhelming number of genetic alterations identified through cancer genome sequencing requires complementary approaches to interpret their significance and interactions. Here we developed a novel whole-body insertional mutagenesis screen in mice, which was designed for the discovery of Pten-cooperating tumor suppressors. Toward this aim, we coupled mobilization of a single-copy inactivating Sleeping Beauty transposon to Pten disruption within the same genome. The analysis of 278 transposition-induced prostate, breast and skin tumors detected tissue-specific and shared data sets of known and candidate genes involved in cancer...
March 20, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28317486/abnormal-clock-gene-expression-and-locomotor-activity-rhythms-in-two-month-old-female-appswe-ps1de9-mice
#5
Olaide Oyegbami, Hilary M Collins, Marie C Pardon, Fran Jp Ebling, David M Heery, Paula M Moran
In addition to cognitive decline, Alzheimer's disease (AD) is also characterized by agitation and disruptions in activity and sleep. These symptoms typically occur in the evening or at night and have been referred to as 'sundowning'. These symptoms are especially difficult for carers and there are no specific drug treatments. There is increasing evidence that these symptoms reflect an underlying pathology of circadian rhythm generation and transmission. We investigated whether a transgenic mouse model relevant to AD (APPswe/PS1dE9) exhibits circadian alterations in locomotor activity and expression of clock genes involved in the regulation of the circadian cycle...
March 17, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28315898/modifiable-risk-factors-and-interventions-for-childhood-obesity-prevention-within-the-first-1-000-days
#6
Anne M Dattilo
Worldwide, the prevalence of childhood obesity has increased, amounting to 42 million overweight or obese children, and there is increasing evidence that the origins are within the first 1,000 days: the period of conception through 2 years. Antecedents of early childhood obesity are multifactorial, and associations of varying strength have been documented for genetic/epigenetic, biologic, dietary, environmental, social, and behavioral influences. Modifiable factors in pregnancy and early infancy associated with childhood obesity include maternal overweight/obesity, maternal smoking, gestational weight gain, infant and young child feeding, caregiver responsive feeding practices, as well as sleep duration, and physical activity...
2017: Nestlé Nutrition Institute Workshop Series
https://www.readbyqxmd.com/read/28295377/time-restricted-feeding-for-prevention-and-treatment-of-cardiometabolic-disorders
#7
Girish C Melkani, Satchidananda Panda
The soaring prevalence of obesity and diabetes is associated with an increase in comorbidities, including elevated risk for cardiovascular diseases (CVD). CVDs continue to be among the leading causes of death and disability in the United States. While increased nutrition intake from an energy dense diet is known to disrupt metabolic homeostasis and contributes to the disease risk, circadian rhythm disruption is emerging as a new risk factor for CVD. Circadian rhythms coordinate cardiovascular health via temporal control of organismal metabolism and physiology...
March 10, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28295263/preschoolers-genetic-physiological-and-behavioral-sensitivity-factors-moderate-links-between-parenting-stress-and-child-internalizing-externalizing-and-sleep-problems
#8
Molly Davis, Kristel Thomassin, Joanie Bilms, Cynthia Suveg, Anne Shaffer, Steven R H Beach
This study examined three potential moderators of the relations between maternal parenting stress and preschoolers' adjustment problems: a genetic polymorphism-the short allele of the serotonin transporter (5-HTTLPR, ss/sl allele) gene, a physiological indicator-children's baseline respiratory sinus arrhythmia (RSA), and a behavioral indicator-mothers' reports of children's negative emotionality. A total of 108 mothers (Mage  = 30.68 years, SDage  = 6.06) reported on their parenting stress as well as their preschoolers' (Mage  = 3...
March 14, 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/28294068/cognitive-impacts-of-estrogen-treatment-in-androgen-deprived-males-what-needs-to-be-resolved
#9
Erik Wibowo
BACKGROUND: Many prostate cancer (PCa) patients are on androgen deprivation therapy (ADT) as part of their cancer treatments but ADT may cause cognitive impairments. ADT depletes men of both androgen and estrogen. Whether estradiol supplementation can improve cognitive impairments in patients on ADT is understudied. OBJECTIVE: To summarize data on the effects of estradiol treatment on cognitive function of androgen-deprived genetic male populations (PCa patients and male-to-female transsexuals) and castrated male animals...
March 13, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28288482/a-multicenter-comparative-study-of-impulse-control-disorder-in-latin-american-patients-with-parkinson-disease
#10
Carolina Candelaria Ramírez Gómez, Marcos Serrano Dueñas, Oscar Bernal, Natalia Araoz, Michel Sáenz Farret, Victoria Aldinio, Verónica Montilla, Federico Micheli
OBJECTIVES: Impulse control disorder (ICD) is a common adverse effect in patients with Parkinson disease who receive dopamine agonists; however, other factors are involved in its manifestations. To study the frequency and factors involved in the development of this adverse effect in a Latin American population, we conducted a cross-sectional multicenter study. METHODS: Two hundred fifty-five patients in 3 Latin American centers were evaluated by examination and application of scales (Unified Parkinson's Disease Rating Scale, Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale, Hoehn and Yahr, Clinical Impression of Severity Index for Parkinson's Disease)...
March 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28287069/ictus-emeticus-presenting-as-an-unusual-seizure-type-in-chromosome-22q11-2-deletion-syndrome
#11
Pi-Lien Hung, Li-Tung Huang, Shang-Yeong Kwan, Kai-Ping Chang, Hsin-Hung Chen, Yi-Yen Lee, Hueng-Chuen Fan, Chien Chen
We present a case study of a patient with chromosome 22q11.2 deletion syndrome presenting with ictus emeticus, together with a review of the relevant literature. The patient developed generalized tonic-clonic seizures at 3 months old, and seizures eventually remitted after calcium therapy. He then experienced vigorous vomiting that occurred during sleep, with glassy eyes and legs flexion. Video-EEG recordings exhibited a switch in background activity from organized reactivity during normal sleep to left lateralized temporal delta activity, which was bilaterally synchronized during an emetic attack...
March 8, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28284560/computational-discovery-of-niclosamide-ethanolamine-a-repurposed-drug-candidate-that-reduces-growth-of-hepatocellular-carcinoma-cells-in-vitro-and-in-mice-by-inhibiting-cdc37-signaling
#12
Bin Chen, Wei Wei, Li Ma, Bin Yang, Ryan M Gill, Mei-Sze Chua, Atul J Butte, Samuel So
BACKGROUND & AIMS: Drug repositioning offers a shorter approval process than new drug development. We therefore searched large public datasets of drug-induced gene expression signatures to identify agents that might be effective against hepatocellular carcinoma (HCC). METHODS: We searched public databases of mRNA expression patterns reported from HCC specimens from patients, HCC cell lines, and cells exposed to various drugs. We identified drugs that might specifically increase expression of genes that are downregulated in HCCs and reduce expression of genes upregulated in HCCs using a non-parametric, rank-based pattern-matching strategy based on the Kolmogorov-Smirnov statistic...
March 8, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28276850/associations-between-period-3-gene-polymorphisms-and-sleep-chronotype-related-variables-in-patients-with-late-life-insomnia
#13
Hader A Mansour, Joel Wood, Kodavali V Chowdari, Divya Tumuluru, Mikhil Bamne, Timothy H Monk, Martica H Hall, Daniel J Buysse, Vishwajit L Nimgaonkar
A variable number tandem repeat polymorphism (VNTR) in the period 3 (PER3) gene has been associated with heritable sleep and circadian variables, including self-rated chronotypes, polysomnographic (PSG) variables, insomnia and circadian sleep-wake disorders. This report describes novel molecular and clinical analyses of PER3 VNTR polymorphisms to better define their functional consequences. As the PER3 VNTR is located in the exonic (protein coding) region of PER3, we initially investigated whether both alleles (variants) are transcribed into messenger RNA in human fibroblasts...
February 27, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28275716/genetic-analysis-of-histamine-signaling-in-larval-zebrafish-sleep
#14
Audrey Chen, Chanpreet Singh, Grigorios Oikonomou, David A Prober
Pharmacological studies in mammals and zebrafish suggest that histamine plays an important role in promoting arousal. However, genetic studies using rodents with disrupted histamine synthesis or signaling have revealed only subtle or no sleep/wake phenotypes. Studies of histamine function in mammalian arousal are complicated by its production in cells of the immune system and its roles in humoral and cellular immunity, which can have profound effects on sleep/wake states. To avoid this potential confound, we used genetics to explore the role of histamine in regulating sleep in zebrafish, a diurnal vertebrate in which histamine production is restricted to neurons in the brain...
January 2017: ENeuro
https://www.readbyqxmd.com/read/28273073/src-2-mediated-coactivation-of-anti-tumorigenic-target-genes-suppresses-myc-induced-liver-cancer
#15
Shruthy Suresh, Deniz Durakoglugil, Xiaorong Zhou, Bokai Zhu, Sarah A Comerford, Chao Xing, Xian-Jin Xie, Brian York, Kathryn A O'Donnell
Hepatocellular carcinoma (HCC) is the fifth most common solid tumor in the world and the third leading cause of cancer-associated deaths. A Sleeping Beauty-mediated transposon mutagenesis screen previously identified mutations that cooperate with MYC to accelerate liver tumorigenesis. This revealed a tumor suppressor role for Steroid Receptor Coactivator 2/Nuclear Receptor Coactivator 2 (Src-2/Ncoa2) in liver cancer. In contrast, SRC-2 promotes survival and metastasis in prostate cancer cells, suggesting a tissue-specific and context-dependent role for SRC-2 in tumorigenesis...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28270747/metabolic-dysfunction-underlying-autism-spectrum-disorder-and-potential-treatment-approaches
#16
REVIEW
Ning Cheng, Jong M Rho, Susan A Masino
Autism spectrum disorder (ASD) is characterized by deficits in sociability and communication, and increased repetitive and/or restrictive behaviors. While the etio-pathogenesis of ASD is unknown, clinical manifestations are diverse and many possible genetic and environmental factors have been implicated. As such, it has been a great challenge to identify key neurobiological mechanisms and to develop effective treatments. Current therapies focus on co-morbid conditions (such as epileptic seizures and sleep disturbances) and there is no cure for the core symptoms...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28270635/-molecular-mechanisms-of-circadian-rhythm-and-sleep-homeostasis
#17
Kazuhiro Kon, Koji L Ode, Hiroki R Ueda
Sleep-wake cycle is controlled by the interplay between circadian rhythm and sleep homeostasis. Genetic studies, through the discovery of mutants with altered sleep-wake behaviors, have explored the molecular components that regulate our daily rhythms. In mammalian circadian clocks, negative-feedback loops composed of a set of transcription activators and inhibitors generate a cell-autonomous oscillation of transcriptional activity. Recent studies further discovered that such transcriptional feedback is controlled through post-translational modifications for the fine-tuning of the oscillation period...
March 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28264500/geneanalytics-pathway-analysis-and-genetic-overlap-among-autism-spectrum-disorder-bipolar-disorder-and-schizophrenia
#18
Naveen S Khanzada, Merlin G Butler, Ann M Manzardo
Bipolar disorder (BPD) and schizophrenia (SCH) show similar neuropsychiatric behavioral disturbances, including impaired social interaction and communication, seen in autism spectrum disorder (ASD) with multiple overlapping genetic and environmental influences implicated in risk and course of illness. GeneAnalytics software was used for pathway analysis and genetic profiling to characterize common susceptibility genes obtained from published lists for ASD (792 genes), BPD (290 genes) and SCH (560 genes). Rank scores were derived from the number and nature of overlapping genes, gene-disease association, tissue specificity and gene functions subdivided into categories (e...
February 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28257468/the-genetic-basis-for-variation-in-resistance-to-infection-in-the-drosophila-melanogaster-genetic-reference-panel
#19
Jonathan B Wang, Hsiao-Ling Lu, Raymond J St Leger
Individuals vary extensively in the way they respond to disease but the genetic basis of this variation is not fully understood. We found substantial individual variation in resistance and tolerance to the fungal pathogen Metarhizium anisopliae Ma549 using the Drosophila melanogaster Genetic Reference Panel (DGRP). In addition, we found that host defense to Ma549 was correlated with defense to the bacterium Pseudomonas aeruginosa Pa14, and several previously published DGRP phenotypes including oxidative stress sensitivity, starvation stress resistance, hemolymph glucose levels, and sleep indices...
March 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28257225/dental-space-deficiency-syndrome-an-anthropological-perspective
#20
Colin S Richman
A new syndrome in dentistry, the dental space deficiency syndrome is proposed in this article. Signs and symptoms of this entity may include one or more of the following clinical dental features: tooth crowding, gingival recession, tooth impactions, rapid resorption of facial alveolar bony plates following premature tooth loss, dentally oriented sleep disorders, extended orthodontic treatment time, and malocclusion relapse following orthodontic therapy. These oral conditions, individually or collectively, seem to be associated with both genetic and functional factors...
March 2017: Compendium of Continuing Education in Dentistry
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