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https://www.readbyqxmd.com/read/28632163/melatonin-as-a-novel-interventional-candidate-for-fragile-x-syndrome-with-autism-spectrum-disorder-in-humans
#1
REVIEW
Jinyoung Won, Yunho Jin, Jeonghyun Choi, Sookyoung Park, Tae Ho Lee, Sang-Rae Lee, Kyu-Tae Chang, Yonggeun Hong
Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation (fmr) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses...
June 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28612268/discordant-sleep-parameters-among-actigraphy-polysomnography-and-perceived-sleep-in-patients-with-sleep-disordered-breathing-in-comparison-with-patients-with-chronic-insomnia-disorder
#2
Su Jung Choi, Miri Kang, Min Je Sung, Eun Yeon Joo
PURPOSE: Although the clinical usefulness of actigraphy (ACT) in chronic insomnia disorder (CID) is extensively investigated, the evaluation on the utility of ACT in sleep-disordered breathing (SDB) is limited and the report of comparison with perceived sleep by patients and polysomnography (PSG) is scarce. METHODS: Thirty-six patients with SDB and 30 with CID underwent PSG and ACT, and they reported perceived sleep time and latency simultaneously. Sleep parameters (total sleep time [TST], sleep onset latency [SOL], sleep efficiency, and wakefulness after sleep onset [WASO]) were compared...
June 14, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28604080/association-of-childhood-obesity-and-the-immune-system-a-systematic-review-of-reviews
#3
Roya Kelishadi, Mohammad Roufarshbaf, Sina Soheili, Farzaneh Payghambarzadeh, Mohsen Masjedi
The growing prevalence of childhood obesity has become a serious health problem over the past decades. As the immune system is greatly affected by excess weight, in this review of reviews, we discuss the findings of review articles about the relationship between childhood/maternal obesity and children's immune system. We searched English-language articles in PubMed, Scopus, ISI Thomson Reuters, and Google Scholar databases. All relevant reviews, either systematic or narrative, were retrieved. Then their quality was assessed by using the Assessment of Multiple Systematic Reviews and International Narrative Systematic Assessment tools, respectively...
June 12, 2017: Childhood Obesity
https://www.readbyqxmd.com/read/28591814/abnormal-gray-matter-shape-thickness-and-volume-in-the-motor-cortico-subcortical-loop-in-idiopathic-rapid-eye-movement-sleep-behavior-disorder-association-with-clinical-and-motor-features
#4
Shady Rahayel, Ronald B Postuma, Jacques Montplaisir, Christophe Bedetti, Simona Brambati, Julie Carrier, Oury Monchi, Pierre-Alexandre Bourgouin, Malo Gaubert, Jean-François Gagnon
Idiopathic rapid eye movement sleep behavior disorder (iRBD) is a major risk factor for Parkinson's disease and dementia with Lewy bodies. Anatomical gray matter abnormalities in the motor cortico-subcortical loop areas remain under studied in iRBD patients. We acquired T1-weighted images and administrated quantitative motor tasks in 41 patients with polysomnography-confirmed iRBD and 41 healthy subjects. Cortical thickness and voxel-based morphometry (VBM) analyses were performed to investigate local cortical thickness and gray matter volume changes, vertex-based shape analysis to investigate shape of subcortical structures, and structure-based volumetric analyses to investigate volumes of subcortical and brainstem structures...
June 7, 2017: Cerebral Cortex
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
#5
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/28575287/an-essential-domain-of-an-early-diverged-rna-polymerase-ii-functions-to-accurately-decode-a-primitive-chromatin-landscape
#6
Anish Das, Mahrukh Banday, Michael A Fisher, Yun-Juan Chang, Jeffrey Rosenfeld, Vivian Bellofatto
A unique feature of RNA polymerase II (RNA pol II) is its long C-terminal extension, called the carboxy-terminal domain (CTD). The well-studied eukaryotes possess a tandemly repeated 7-amino-acid sequence, called the canonical CTD, which orchestrates various steps in mRNA synthesis. Many eukaryotes possess a CTD devoid of repeats, appropriately called a non-canonical CTD, which performs completely unknown functions. Trypanosoma brucei, the etiologic agent of African Sleeping Sickness, deploys an RNA pol II that contains a non-canonical CTD to accomplish an unusual transcriptional program; all protein-coding genes are transcribed as part of a polygenic precursor mRNA (pre-mRNA) that is initiated within a several-kilobase-long region, called the transcription start site (TSS), which is upstream of the first protein-coding gene in the polygenic array...
May 26, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28555521/prevalence-of-bruxism-and-temporomandibular-disorders-among-orphans-in-southeast-uganda-a-gender-and-age-comparison
#7
Pessia Friedman Rubin, Assaf Erez, Benjamin Peretz, Ravit Birenboim-Wilensky, Ephraim Winocur
OBJECTIVES: The aims of the current study were: (1) to assess the prevalence of oral habits, bruxism, and temporomandibular disorders (TMDs) among children living in Uganda; (2) to establish whether parafunctional activities are associated with TMDs; and (3) to examine the possible impact of gender and age on the prevalence of bruxism, oral habits, and TMDs. METHODS: This study included 153 children aged 6-17 years. The study consisted of a questionnaire and a clinical examination...
May 30, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/28545789/frequency-of-somatic-symptoms-in-the-general-population-normative-values-for-the-patient-health-questionnaire-15-phq-15
#8
Andreas Hinz, Jochen Ernst, Heide Glaesmer, Elmar Brähler, Franziska G Rauscher, Katja Petrowski, Rüya-Daniela Kocalevent
BACKGROUND: The PHQ-15 is widely used as an open access screening instrument for somatic symptoms in different health care settings. The objectives of the study were to contribute to the construct validity and to generate normative data for the PHQ-15. METHODS: The survey was conducted in the general population in Germany from August 2011 to November 2014 (n=9250). All participants underwent an extensive core assessment including a set of questionnaires. RESULTS: Men reported significantly less (p<0...
May 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28543437/the-adenoid-its-history-and-a-cautionary-tale
#9
Robert J Ruben
The existence of the adenoid first appears to have been noted by Conrad Victor Schneider in 1661. James Yearsley reported in 1842 one case in which he improved hearing by removal of a mucus membrane from behind the uvula, which indicates some appreciation of a relationship of the nasopharynx to ear disease. Hans Wilhelm Meyer, in 1868, was the first to demonstrate the relationship of the adenoid to ear disease and to develop an effective, although somewhat difficult, surgical operation to remove the adenoid...
June 2017: Laryngoscope
https://www.readbyqxmd.com/read/28525634/association-between-weekend-catch-up-sleep-and-lower-body-mass-population-based-study-weekend-catch-up-sleep-and-body-mass-index
#10
Hee-Jin Im, Shin-Hye Baek, Min Kyung Chu, Kwang Ik Yang, Won-Joo Kim, Seong-Ho Park, Robert J Thomas, Chang-Ho Yun
Study Objectives: To determine if weekend catch-up sleep (CUS) impacts body mass index (BMI) in the general population. Methods: A stratified random sample (2,156 subjects; age 19-82 years old, 43.0±14.5; 1,183 male) from the general population was evaluated, in 2010, using face-to-face interviews about sociodemographic characteristics, height, weight, habitual sleep duration and time-in-bed at night on weekdays and weekend, sleep-related profiles, mood and anxiety scales, and comorbid-medical conditions...
May 19, 2017: Sleep
https://www.readbyqxmd.com/read/28525628/modulation-of-the-muscle-activity-during-sleep-in-cervical-dystonia
#11
E Antelmi, R Ferri, F Provini, C Scaglione, F Mignani, F Rundo, S Vandi, M Fabbri, F Pizza, G Plazzi, P Martinelli, R Liguori
Introduction: Impaired sleep has been reported as an important non-motor feature in dystonia, but so far, subjective complaints have never been compared with nocturnal video-polysomnographic recording, which is the gold standard to assess sleep-related disorders. Methods: Twenty patients with idiopathic isolated cervical dystonia and 22 healthy controls underwent extensive clinical investigations, neurological examination and questionnaires screening for excessive daytime sleepiness and sleep-related disorders...
May 19, 2017: Sleep
https://www.readbyqxmd.com/read/28521579/cognitive-behavioural-therapy-for-post-stroke-fatigue-and-sleep-disturbance-a-pilot-randomised-controlled-trial-with-blind-assessment
#12
Sylvia Nguyen, Dana Wong, Adam McKay, Shantha M W Rajaratnam, Gershon Spitz, Gavin Williams, Darren Mansfield, Jennie L Ponsford
The objective of this study was to evaluate the effectiveness of individual cognitive behavioural therapy (CBT) for post-stroke fatigue and sleep disturbance compared to treatment as usual (TAU). In a parallel two-group pilot randomised controlled trial of 15 participants, nine were allocated to eight weekly sessions of adapted CBT and six continued usual care rehabilitation. The primary outcome was the Fatigue Severity Scale (FSS-7) at two and four months from baseline. Secondary outcomes included measures of sleep, mood and quality of life...
May 19, 2017: Neuropsychological Rehabilitation
https://www.readbyqxmd.com/read/28513320/crispr-cas9-based-pten-knock-out-and-sleeping-beauty-transposon-mediated-nras-knock-in-induces-hepatocellular-carcinoma-and-hepatic-lipid-accumulation-in-mice
#13
Mingming Gao, Dexi Liu
Both Pten and Nras are downstream mediators of receptor tyrosine kinase activation that plays important roles in controlling cell survival and proliferation. Here, we investigated whether and how Pten loss cross-talks with Nras activation in driving liver cancer development in mice. Somatic disruption of hepatic Pten and overexpression of Nras were achieved in out-bred immunocompetent CD-1 mice through a hydrodynamic delivery of plasmids carrying Sleeping Beauty transposon-based integration of Nras and the CRISPR/Cas9-mediated Pten knock-out system...
May 17, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28512397/leukocyte-expression-of-type-1-and-type-2-purinergic-receptors-and-pro-inflammatory-cytokines-during-total-sleep-deprivation-and-or-sleep-extension-in-healthy-subjects
#14
Mounir Chennaoui, Pierrick J Arnal, Catherine Drogou, Damien Leger, Fabien Sauvet, Danielle Gomez-Merino
The purinergic type P1 (adenosine A1 and A2A) receptors and the type P2 (X7) receptor have been suggested to mediate physiological effects of adenosine and adenosine triphosphate on sleep. We aimed to determine gene expression of A1R (receptor), A2AR, and P2RX7 in leukocytes of healthy subjects during total sleep deprivation followed by sleep recovery. Expression of the pro-inflammatory cytokines IL-1β and TNF-α were also determined as they have been characterized as sleep regulatory substances, via P2RX7 activation...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28509415/ratings-of-affective-and-interpersonal-tendencies-differ-for-grandiose-and-vulnerable-narcissism-a-replication-and-extension-of-gore-widiger
#15
Courtland S Hyatt, Chelsea E Sleep, Donald R Lynam, Thomas A Widiger, W Keith Campbell, Joshua D Miller
OBJECTIVE: Theoretical conceptions of narcissism have long been characterized by two seemingly opposing poles: grandiosity and vulnerability. The goal of the current study was to investigate the extent to which traits associated with one profile are perceived to co-occur with the other within an individual. METHOD: Lay raters (n = 862; 56% female; 80% Caucasian; mean age = 37) recruited from Amazon's MTurk and assigned to one of four conditions in which they rated how often a series of narcissistic traits were displayed by a prototypical grandiose narcissist, vulnerable narcissist, a close friend, or themselves...
May 16, 2017: Journal of Personality
https://www.readbyqxmd.com/read/28508187/associations-between-serum-zinc-levels-and-mental-health-findings-from-the-2010-korean-national-health-and-nutrition-examination-survey
#16
Na-Rae Kim, Ko-Woon Kim, Ha-Na Kim, Sang-Wook Song
Mental health problems are a major public health issue worldwide, and zinc may be associated with psychiatric symptoms, but such associations have not been investigated extensively. This study was conducted to evaluate the relationship between serum zinc levels and mental health problems in Korean adults. We used data from the Korean National Health and Nutrition Examination Survey V-1, a cross-sectional survey of Korean civilians. Data from 1748 subjects were analyzed. Serum zinc levels did not differ significantly according to psychiatric symptoms including sleep duration, stress, depressed mood, suicidal ideation, and whether respondents sought psychiatric consultation...
May 15, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28506089/long-term-oxygen-therapy-in-copd-patients-who-do-not-meet-the-actual-recommendations
#17
Begum Ergan, Stefano Nava
Chronic respiratory failure due to chronic obstructive pulmonary disease (COPD) is an increasing problem worldwide. Many patients with severe COPD develop hypoxemic respiratory failure during the natural progression of disease. Long-term oxygen therapy (LTOT) is a well-established supportive treatment for COPD and has been shown to improve survival in patients who develop chronic hypoxemic respiratory failure. The degree of hypoxemia is severe when partial pressure of oxygen in arterial blood (PaO2) is ≤55 mmHg and moderate if PaO2 is between 56 and 69 mmHg...
May 16, 2017: COPD
https://www.readbyqxmd.com/read/28479928/cardioprotective-effects-of-huoxueanshen-recipe-against-myocardial-injuries-induced-by-sleep-deprivation-in-rats
#18
Rong Yuan, Li-Li Guo, Heng-Wen Chen, Jun-Ping Li, Zhong Chen, Ben-Jun Wei, Jie Wang
Background. Traditional Chinese Medicine is extensively used in China and HuoxueAnshen Recipe (HAR) was formulated according to its method in treating CHD accompanied with insomnia in clinic. However, there are few studies related to the effect of HAR on myocardial injury and sleep disorders. Purpose. To investigate the effects of HAR on sleep deprivation- (SD-) induced myocardial I/R injury. Methods. Male Wistar rats receiving a daily gavage of HAR or vehicle were exposed to SD intervention while control rats had normal sleep...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28479798/impairments-in-quality-of-life-and-cognitive-functions-in-long-term-survivors-of-glioblastoma
#19
Chirag Solanki, Divya Sadana, Arivazhagan Arimappamagan, K V L N Rao, Jamuna Rajeswaran, D K Subbakrishna, Vani Santosh, Paritosh Pandey
BACKGROUND: The incidence of long-term survival in glioblastoma (GBM), i.e., >3 years, ranges from 3% to 5%. Although extensive research is performed in novel therapies for prolonging survival, there is a scarcity of research focusing on the impact of tumor and treatment on cognitive, psychological, and social status of survivors. This study is an attempt to look into this poorly addressed important issue. MATERIALS AND METHODS: Nine patients (six adults and three children) with GBM who had survived >3 years were included in the study...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28476288/adverse-events-associated-with-unblinded-but-not-with-blinded-statin-therapy-in-the-anglo-scandinavian-cardiac-outcomes-trial-lipid-lowering-arm-ascot-lla-a-randomised-double-blind-placebo-controlled-trial-and-its-non-randomised-non-blind-extension-phase
#20
Ajay Gupta, David Thompson, Andrew Whitehouse, Tim Collier, Bjorn Dahlof, Neil Poulter, Rory Collins, Peter Sever
BACKGROUND: In blinded randomised controlled trials, statin therapy has been associated with few adverse events (AEs). By contrast, in observational studies, larger increases in many different AEs have been reported than in blinded trials. METHODS: In the Lipid-Lowering Arm of the Anglo-Scandinavian Cardiac Outcomes Trial, patients aged 40-79 years with hypertension, at least three other cardiovascular risk factors, and fasting total cholesterol concentrations of 6·5 mmol/L or lower, and who were not taking a statin or fibrate, had no history of myocardial infarction, and were not being treated for angina were randomly assigned to atorvastatin 10 mg daily or matching placebo in a randomised double-blind placebo-controlled phase...
May 2, 2017: Lancet
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