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https://www.readbyqxmd.com/read/28103894/impacts-of-caring-for-a-child-with-the-cdkl5-disorder-on-parental-wellbeing-and-family-quality-of-life
#1
Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein, Helen Leonard
BACKGROUND: Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigate such impacts in families with a child with the CDKL5 disorder, a newly recognised genetic disorder causing severe neurodevelopmental impairments and refractory epilepsy. METHODS: Data were sourced from the International CDKL5 Disorder Database to which 192 families with a child with a pathogenic CDKL5 mutation had provided data by January 2016...
January 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28102229/the-neurosteroidogenic-enzyme-5%C3%AE-reductase-mediates-psychotic-like-complications-of-sleep-deprivation
#2
Roberto Frau, Valentina Bini, Alessio Soggiu, Simona Scheggi, Alessandra Pardu, Silvia Fanni, Paola Roncada, Monica Puligheddu, Francesco Marrosu, Donatella Caruso, Paola Devoto, Marco Bortolato
Acute sleep deprivation (SD) can trigger or exacerbate psychosis- and mania-related symptoms; the neurobiological basis of these complications, however, remains elusive. Given the extensive involvement of neuroactive steroids in psychopathology, we hypothesized that the behavioral complications of SD may be contributed by 5α-reductase (5αR), the rate-limiting enzyme in the conversion of progesterone into the neurosteroid allopregnanolone. We first tested whether rats exposed to SD may exhibit brain-regional alterations in 5αR isoenzymes and neuroactive steroid levels; then, we assessed whether the behavioral and neuroendocrine alterations induced by SD may be differentially modulated by the administration of the 5αR inhibitor finasteride, as well as progesterone and allopregnanolone...
January 19, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28095943/sleep-disturbances-in-caregivers-of-patients-with-advanced-cancer-a-systematic-review
#3
Kirstin F Maltby, Christine R Sanderson, Elizabeth A Lobb, Jane L Phillips
OBJECTIVE: Sleep disturbances are a common issue for those who provide informal care to someone with a life-limiting condition. The negative consequences of poor sleep are well documented. The purpose of the present study was to determine the sleep patterns of caregivers of patients with advanced cancer. METHOD: An extensive systematic review of studies reporting empirical sleep data was undertaken in 2015 in accordance with the PRISMA Statement. A total of eight electronic databases were searched, with no date restrictions imposed...
January 18, 2017: Palliative & Supportive Care
https://www.readbyqxmd.com/read/28092114/sleep-disordered-breathing-in-pediatric-head-and-neck-vascular-malformations
#4
Megan L Durr, Anna K Meyer, Eric J Kezirian, Mark D Mamlouk, Ilona J Frieden, Kristina W Rosbe
OBJECTIVES: To determine the prevalence of sleep-disordered breathing (SDB) symptoms among children with head and neck vascular malformations and to compare obstructive sleep apnea (OSA)-18 scores between children with head and neck vascular malformations and children with non-head and neck vascular malformations. STUDY DESIGN: Retrospective cohort and prospective cross-sectional studies METHODS: Forty-three pediatric subjects with head and neck vascular malformations evaluated at a tertiary-care multidisciplinary vascular anomalies center were included in a retrospective cohort study...
January 16, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28079877/genome-wide-transposon-screening-and-quantitative-insertion-site-sequencing-for-cancer-gene-discovery-in-mice
#5
Mathias J Friedrich, Lena Rad, Iraad F Bronner, Alexander Strong, Wei Wang, Julia Weber, Matthew Mayho, Hannes Ponstingl, Thomas Engleitner, Carolyn Grove, Anja Pfaus, Dieter Saur, Juan Cadiñanos, Michael A Quail, George S Vassiliou, Pentao Liu, Allan Bradley, Roland Rad
Transposon-mediated forward genetics screening in mice has emerged as a powerful tool for cancer gene discovery. It pinpoints cancer drivers that are difficult to find with other approaches, thus complementing the sequencing-based census of human cancer genes. We describe here a large series of mouse lines for insertional mutagenesis that are compatible with two transposon systems, PiggyBac and Sleeping Beauty, and give guidance on the use of different engineered transposon variants for constitutive or tissue-specific cancer gene discovery screening...
February 2017: Nature Protocols
https://www.readbyqxmd.com/read/28078487/the-role-of-the-nox4-derived-ros-mediated-rhoa-rho-kinase-pathway-in-rat-hypertension-induced-by-chronic-intermittent-hypoxia
#6
Wen Lu, Jing Kang, Ke Hu, Si Tang, Xiufang Zhou, Lifang Xu, Yuanyuan Li, Shuhui Yu
BACKGROUND: Obstructive sleep apnea syndrome, which is a risk factor for resistant hypertension, is characterized by chronic intermittent hypoxia (CIH) and is associated with many cardiovascular diseases. CIH elicits systemic oxidative stress and sympathetic hyperactivity, which lead to hypertension. Rho kinases (ROCKs) are considered to be major effectors of the small GTPase RhoA and have been extensively studied in the cardiovascular field. Upregulation of the RhoA/ROCK signaling cascade is observed in various cardiovascular disorders, such as atherosclerosis, pulmonary hypertension, and stroke...
January 11, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28060940/clock-genes-regulate-the-circadian-expression-of-piezo1-trpv4-connexin26-and-vnut-in-an-ex-vivo-mouse-bladder-mucosa
#7
Tatsuya Ihara, Takahiko Mitsui, Yuki Nakamura, Satoru Kira, Hiroshi Nakagomi, Norifumi Sawada, Yuri Hirayama, Keisuke Shibata, Eiji Shigetomi, Yoichi Shinozaki, Mitsuharu Yoshiyama, Karl-Erik Andersson, Atsuhito Nakao, Masayuki Takeda, Schuichi Koizumi
OBJECTIVES: ClockΔ19/Δ19 mice is an experimental model mouse for nocturia (NOC). Using the bladder mucosa obtained from ClockΔ19/Δ19 mice, we investigated the gene expression rhythms of mechanosensory cation channels such as transient receptor potential cation channel subfamily V member 4 (TRPV4) and Piezo1, and main ATP release pathways including vesicular nucleotide transporter (VNUT) and Connexin26(Cx26), in addition to clock genes. MATERIALS AND METHODS: Eight- to twelve-week-old male C57BL/6 mice (WT) and age- and sex-matched C57BL/6 ClockΔ19/Δ19 mice, which were bred under 12-h light/dark conditions for 2 weeks, were used...
2017: PloS One
https://www.readbyqxmd.com/read/28060455/self-reported-quality-of-sleep-is-associated-with-physical-strength-among-community-dwelling-young-old-adults
#8
Katarzyna B Malinowska, Tome Ikezoe, Noriaki Ichihashi, Hidenori Arai, Kimihiko Murase, Kazuo Chin, Takahisa Kawaguchi, Yasuharu Tabara, Takeo Nakayama, Fumihiko Matsuda, Tadao Tsuboyama
AIM: The present study examined the association between self-reported quality of sleep (QOS) and physical function in community-dwelling young-old adults. METHODS: This cross-sectional study included 737 community-dwelling older adults aged 60 years and older (498 women, 239 men); age 68.3 ± 5.2 years (range 60-79 years). Participants completed a self-administered questionnaire, which included the Pittsburgh Sleep Quality Index, as well as information regarding sociodemographic characteristics, physical activity, smoking and alcohol consumption...
January 6, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/28049718/patterns-of-organelle-ontogeny-through-a-cell-cycle-revealed-by-whole-cell-reconstructions-using-3d-electron-microscopy
#9
Louise Hughes, Samantha Borrett, Katie Towers, Tobias Starborg, Sue Vaughan
The major mammalian bloodstream form of the African sleeping sickness parasite Trypanosoma brucei multiplies rapidly and it is important to understand how these cells divide. Organelle inheritance involves complex spatiotemporal re-arrangements to ensure correct distribution to daughter cells. Serial block face scanning electron microscopy (SBF-SEM) was used to reconstruct whole individual cells at different stages of the cell cycle to give an unprecedented temporal, spatial and quantitative view of organelle division, inheritance and abscission in a eukaryotic cell...
January 3, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28043189/discomfort-expectations-and-experiences-during-treatment-of-large-overjet-with-andresen-activator-or-prefabricated-functional-appliance-a-questionnaire-survey
#10
Emina Čirgić, Heidrun Kjellberg, Ken Hansen
BACKGROUND: The purpose of this study was to investigate the amount of functional and social discomfort experienced after 1 and 6 months of appliance wear, comparing a slightly modified Andresen Activator (AA) and a Prefabricated Functional Appliance (PFA). METHODS: Ninety-seven patients randomly selected by lottery in an AA (40 subjects), and a PFA (57 subjects) group, with an Angle Class II, Division 1 malocclusion, were eligible for the study. One month and 6 months after start of treatment, a questionnaire, addressing discomfort, perception of treatment need and outcome, was used...
January 2, 2017: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/28019049/facial-phenotype-in-obstructive-sleep-apnea-hypopnea-syndrome-a-systematic-review-and-meta-analysis
#11
Bahn Agha, Ama Johal
This systematic review and meta-analysis explores the association between facial phenotype and obstructive sleep apnea-hypopnea syndrome in adults. A comprehensive electronic (Medline via Ovid, Scopus, and Embase) database and reference search were undertaken in relation to imaging modalities for surface craniofacial assessments in subjects with sleep apnea. The outcome measures were surface facial dimensions, morphology and profile. The quality of studies was assessed and a meta-analysis conducted. The studies were weighted using the inverse variance method, and the random effects model was used to analyse data...
December 26, 2016: Journal of Sleep Research
https://www.readbyqxmd.com/read/28009676/effectiveness-of-meaningful-occupation-interventions-for-people-living-with-dementia-in-residential-aged-care-a-systematic-review
#12
Catherine Travers, Deborah Brooks, Sonia Hines, Maria O'Reilly, Mitchell McMaster, Wei He, Margaret MacAndrew, Elaine Fielding, Lina Karlsson, Elizabeth Beattie
BACKGROUND: The ability to participate in valued activities, whether for work, leisure or family, is an important aspect of personal identity. In dementia, progressive memory loss means that abilities developed over a lifetime begin to be lost as well, contributing to the loss of self and identity. Some studies have reported that activities or interventions tailored to be meaningful to the person with dementia (defined as any activity important to the individual) are more effective in addressing behavioral and psychological symptoms of dementia (BPSD) and improving quality of life (QoL) than those that are not so tailored...
December 2016: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/27998000/severe-excessive-daytime-sleepiness-induced-by-hydroxyurea
#13
Bruno RevoL, Marie Joyeux-Faure, Marie-Victoire Albahary, Remy Gressin, Michel Mallaret, Jean-Louis Pepin, Sandrine H Launois
Excessive daytime sleepiness (EDS) has been reported with many drugs, either as an extension of a hypnotic effect (e.g., central nervous system depressants) or as an idiosyncratic response of the patient. Here, we report unexpected and severe subjective and objective EDS induced by hydroxyurea therapy, with a favorable outcome after withdrawal. Clinical history, sleep log, polysomnography and multiple sleep latency tests confirming the absence of other EDS causes are presented. This article is protected by copyright...
December 20, 2016: Fundamental & Clinical Pharmacology
https://www.readbyqxmd.com/read/27991465/specific-and-combined-subjective-responses-to-noise-and-their-association-with-cardiovascular-diseases
#14
Zdenka Vandasova, Ondřej Vencálek, Vladimíra Puklová
INTRODUCTION: Noise is one of the most extensive environmental factors affecting the general population. The present study is focused on the association between discomfort caused by noise and the incidence of certain diseases (ischaemic heart disease, stroke and hypertension). MATERIALS AND METHODS: This cross-sectional questionnaire study, conducted in 10 cities in the Czech Republic, comprises two stages with 3592 obtained questionnaires in the first phase and 762 in the second phase...
November 2016: Noise & Health
https://www.readbyqxmd.com/read/27984046/psychophysiological-relationships-between-a-multi-component-self-report-measure-of-mood-stress-and-behavioural-signs-and-symptoms-and-physiological-stress-responses-during-a-simulated-firefighting-deployment
#15
Alexander Wolkow, Brad Aisbett, Sally A Ferguson, John Reynolds, Luana C Main
Physical work and sleep loss are wildland firefighting demands that elicit psychological and physiological stress responses. Research shows that these responses are statistically related which presents an opportunity to use subjective psychological questionnaires to monitor physiological changes among firefighters; an approach used extensively in sport settings. The aim of the present study was to investigate if changes in self-reported psychological factors on the multi-component training distress scale (MTDS), relate to cytokines and cortisol levels among firefighters completing three days of simulated physical firefighting work separated by an 8-h or restricted 4-h sleep each night...
October 29, 2016: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/27977293/development-of-a-sleep-telementorship-program-for-rural-department-of-veterans-affairs-primary-care-providers-sleep-va-echo
#16
Elizabeth C Parsons, Elizabeth A Mattox, Lauren A Beste, David H Au, Bessie A Young, Michael F Chang, Brian N Palen
RATIONALE: Primary care providers (PCPs) frequently encounter sleep complaints, especially in regions with limited specialty care access. OBJECTIVES: The US Department of Veterans Affairs Extension for Community Healthcare Outcomes (VA-ECHO) program (based on Project ECHO) has successfully provided rural PCP education in subspecialty areas, including hepatitis C. We describe the feasibility of an ECHO program for sleep medicine. METHODS: ECHO creates a virtual learning community through video-teleconferencing, combining didactics with individualized clinical case review...
December 15, 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27974377/sleep-apnoea-and-the-neurologist
#17
REVIEW
Shuli Cheng, Catherine D Stark, Richard J Stark
There is increasing awareness and interest in the complex and extensive inter-relationships between sleep disorders and neurological disorders. This review focuses on the clinical interactions between obstructive sleep apnoea and stroke, headaches, epilepsy, cognition and idiopathic Parkinson's disease. We highlight to the neurologist the importance of taking a sleep history and considering the diagnosis and treatment of obstructive sleep apnoea.
January 2017: Practical Neurology
https://www.readbyqxmd.com/read/27942799/interrupting-prolonged-sitting-in-type-2-diabetes-nocturnal-persistence-of-improved-glycaemic-control
#18
Paddy C Dempsey, Jennifer M Blankenship, Robyn N Larsen, Julian W Sacre, Parneet Sethi, Nora E Straznicky, Neale D Cohen, Ester Cerin, Gavin W Lambert, Neville Owen, Bronwyn A Kingwell, David W Dunstan
AIMS/HYPOTHESIS: We aimed to examine the effect of interrupting 7 h prolonged sitting with brief bouts of walking or resistance activities on 22 h glucose homeostasis (including nocturnal-to-following morning hyperglycaemia) in adults with type 2 diabetes. METHODS: This study is an extension of a previously published randomised crossover trial, which included 24 inactive overweight/obese adults with type 2 diabetes (14 men; 62 ± 6 years) who completed three 7 h laboratory conditions, separated by 6-14 day washout periods: SIT: (1) prolonged sitting (control); (2) light-intensity walking (LW): sitting plus 3 min bouts of light-intensity walking at 3...
December 9, 2016: Diabetologia
https://www.readbyqxmd.com/read/27934658/proposals-for-upper-limits-of-safe-intake-for-arginine-and-tryptophan-in-young-adults-and-an-upper-limit-of-safe-intake-for-leucine-in-the-elderly
#19
REVIEW
Luc Cynober, Dennis M Bier, Motoni Kadowaki, Sidney M Morris, Rajavel Elango, Miro Smriga
On the basis of research presented during the 9th Amino Acid Assessment Workshop, a No Observed Adverse Effect Level (NOAEL) for diet-added arginine (added mostly in the form of dietary supplements) of 30 g/d and an upper limit of safe intake (ULSI) for diet-added tryptophan (added mostly in the form of dietary supplements) of 4.5 g/d have been proposed. Both recommendations apply to healthy young adults. The total dietary leucine ULSI proposed for elderly individuals is 500 mg · kg(-1) · d(-1) All 3 recommendations are relevant only to high-quality amino acid-containing products with specifications corresponding to those listed in the US Pharmacopeia Because the above amino acids are extensively utilized as dietary supplements for various real or perceived benefits, such as vasodilation, spermatogenesis, sleep, mood regulation, or muscle recovery, the above safety recommendations will have an important impact on regulatory and nutritional practices...
December 2016: Journal of Nutrition
https://www.readbyqxmd.com/read/27934651/a-perspective-on-the-safety-of-supplemental-tryptophan-based-on-its-metabolic-fates
#20
REVIEW
John D Fernstrom
Over the past 50 y, tryptophan has been ingested in amounts well in excess of its dietary requirement. This use is based on extensive findings that ingesting tryptophan increases brain tryptophan concentrations, which stimulates the synthesis and release of the neurotransmitter serotonin, from which it is derived. Such increases in serotonin function may improve mood and sleep. However, tryptophan ingestion has other effects, such as increasing serotonin production in the gut, increasing serotonin concentrations in blood, stimulating the production of the hormone melatonin (a tryptophan metabolite), stimulating tryptophan metabolism via the kynurenine pathway, and possibly stimulating the production of tryptophan metabolites in the gut microbiome...
December 2016: Journal of Nutrition
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