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https://www.readbyqxmd.com/read/28090684/predict-pd-an-online-approach-to-prospectively-identify-risk-indicators-of-parkinson-s-disease
#1
Alastair J Noyce, Lea R'Bibo, Luisa Peress, Jonathan P Bestwick, Kerala L Adams-Carr, Niccolo E Mencacci, Christopher H Hawkes, Joseph M Masters, Nicholas Wood, John Hardy, Gavin Giovannoni, Andrew J Lees, Anette Schrag
BACKGROUND: A number of early features can precede the diagnosis of Parkinson's disease (PD). OBJECTIVE: To test an online, evidence-based algorithm to identify risk indicators of PD in the UK population. METHODS: Participants aged 60 to 80 years without PD completed an online survey and keyboard-tapping task annually over 3 years, and underwent smell tests and genotyping for glucocerebrosidase (GBA) and leucine-rich repeat kinase 2 (LRRK2) mutations...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28089652/hippocampal-prefrontal-connectivity-as-a-translational-phenotype-for-schizophrenia
#2
REVIEW
Florian Bähner, Andreas Meyer-Lindenberg
Finding novel biological targets in psychiatry has been difficult, partly because current diagnostic categories are not defined by pathophysiology and difficult to model in animals. The study of species-conserved systems-level mechanisms implicated in psychiatric disease could be a promising strategy to address some of these difficulties. Altered hippocampal-prefrontal (HC-PFC) connectivity during working memory (WM) processing is a candidate for such a translational phenotype as it has been repeatedly associated with impaired cognition in schizophrenia patients and animal models for psychiatric risk factors...
January 12, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28079877/genome-wide-transposon-screening-and-quantitative-insertion-site-sequencing-for-cancer-gene-discovery-in-mice
#3
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/28072960/-novel-compound-heterozygous-tbc1d24-mutations-in-a-boy-with-infantile-focal-myoclonic-epilepsy-and-literature-review
#4
W H Li, S Z Zhou, L M Zhang, X H Wang, Y J Zhang, B B Wu, H J Wang, H W Yang
Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations. Method: The clinical data of a patient with novel TBC1D24 compound heterozygous mutations from Children's Hospital of Fudan University were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and Pubmed (up to April 2016) by using search terms "TBC1D24" "epilepsy" ...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28072517/arthropod-innate-immune-systems-and-vector-borne-diseases
#5
Richard H G Baxter, Alicia Contet, Kathryn Krueger
Arthropods, especially ticks and mosquitoes, are the vectors for a number of parasitic and viral human diseases including malaria, sleeping sickness, Dengue and Zika. Yet arthropods show tremendous individual variation in their capacity to transmit disease. A key factor in this capacity is genetically encoded immune factors that counteract infection by the pathogen. Arthropod-specific pattern recognition receptors and protease cascades detect and respond to infection. Proteins such as antimicrobial peptides, thioester-containing proteins, and transglutaminases effect responses such as lysis, phagocytosis, melanization and agglutination...
January 10, 2017: Biochemistry
https://www.readbyqxmd.com/read/28065514/review-of-childhood-obesity-from-epidemiology-etiology-and-comorbidities-to-clinical-assessment-and-treatment
#6
REVIEW
Seema Kumar, Aaron S Kelly
Childhood obesity has emerged as an important public health problem in the United States and other countries in the world. Currently 1 in 3 children in the United States is afflicted with overweight or obesity. The increasing prevalence of childhood obesity is associated with emergence of comorbidities previously considered to be "adult" diseases including type 2 diabetes mellitus, hypertension, nonalcoholic fatty liver disease, obstructive sleep apnea, and dyslipidemia. The most common cause of obesity in children is a positive energy balance due to caloric intake in excess of caloric expenditure combined with a genetic predisposition for weight gain...
January 5, 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28064405/a-systematic-review-of-circadian-function-chronotype-and-chronotherapy-in-attention-deficit-hyperactivity-disorder
#7
REVIEW
Andrew N Coogan, Niall M McGowan
Reports of sleep disturbances in attention deficit hyperactivity disorder (ADHD) are common in both children and adults; however, the aetiology of such disturbances is poorly understood. One potentially important mechanism which may be implicated in disrupted sleep in ADHD is the circadian CLOCK, a known key regulator of the sleep/wake cycle. In this systematic review, we analyse the evidence for circadian rhythm changes associated with ADHD, as well as assessing evidence for therapeutic approaches involving the circadian CLOCK in ADHD...
January 7, 2017: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/28059614/western-diets-gut-dysbiosis-and-metabolic-diseases-are-they-linked
#8
Kristina B Martinez, Vanessa Leone, Eugene B Chang
Obesity afflicts 36.5% of the US population and 600 million individuals world-wide. Thus, it is imperative to understand the risk factors underlying metabolic disease including diet, activity level, sleep, and genetics. Another key contributory factor is the gut microbiota given its widely reported role in the development of metabolic disease. The gut microbiota, particularly its structure and function, is heavily influenced by Western style diets rich in a complex mixture of fats and high in simple sugars...
January 6, 2017: Gut Microbes
https://www.readbyqxmd.com/read/28057529/genetic-inhibition-of-anaplastic-lymphoma-kinase-rescues-cognitive-impairments-in-neurofibromatosis-1-mutant-mice
#9
Joseph B Weiss, Sydney J Weber, Eileen Ruth S Torres, Tessa Marzulla, Jacob Raber
Heterozygous Neurofibromatosis 1 (NF1) loss of function mutations occur in approximately 90% of patients with neurofibromatosis. A major, disabling phenotypic consequence of reduced NF1 function is cognitive impairment; a possibly related behavioral phenotype is impaired sleep. Recent results in Drosophila have demonstrated a genetic interaction between Anaplastic Lymphoma Kinase (Alk) and NF1 for both associative learning and sleep. Inhibition of Alk improves associative learning and sleep in heterozygous NF1 mutant flies...
January 3, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28057302/unraveling-the-neurobiology-of-sleep-and-sleep-disorders-using-drosophila
#10
L Chakravarti, E H Moscato, M S Kayser
Sleep disorders in humans are increasingly appreciated to be not only widespread but also detrimental to multiple facets of physical and mental health. Recent work has begun to shed light on the mechanistic basis of sleep disorders like insomnia, restless legs syndrome, narcolepsy, and a host of others, but a more detailed genetic and molecular understanding of how sleep goes awry is lacking. Over the past 15 years, studies in Drosophila have yielded new insights into basic questions regarding sleep function and regulation...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28055282/amerindian-but-not-african-or-european-ancestry-is-significantly-associated-with-diurnal-preference-within-an-admixed-brazilian-population
#11
Kieren J Egan, Hadassa Campos Santos, Felipe Beijamini, Núbia E Duarte, Andréa R V R Horimoto, Tâmara P Taporoski, Homero Vallada, André B Negrão, José E Krieger, Mário Pedrazzoli, Kristen L Knutson, Alexandre C Pereira, Malcolm von Schantz
Significant questions remain unanswered regarding the genetic versus environmental contributions to racial/ethnic differences in sleep and circadian rhythms. We addressed this question by investigating the association between diurnal preference, using the morningness-eveningness questionnaire (MEQ), and genetic ancestry within the Baependi Heart Study cohort, a highly admixed Brazilian population based in a rural town. Analysis was performed using measures of ancestry, using the Admixture program, and MEQ from 1,453 individuals...
January 5, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28051218/parental-satisfaction-of-an-assessment-unit-for-autistic-spectrum-disorders
#12
Arwa Ben Amor, Soumeyya Halayem, Maissa Touati, Ahlem Belhadj, Riadh Gouider, Ridha Mrad, Asma Bouden
Background - Based on the recognized principles of assessment of autistic disorders, the child and adolescent psychiatry department in Razi Hospital developed an assessment unit with diagnostic as well as therapeutic roles. The aim of this work was to examine its functioning and to analyze the parents' perceptions about the unit services. Methods - We gathered the parental satisfaction about the unit by the means of a hetero-questionnaire. Results - Fifty-two parents of children evaluated within the unit were included...
June 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/28049707/pleiotropic-effects-of-loss-of-the-d%C3%AE-1-subunit-in-drosophila-melanogaster-implications-for-insecticide-resistance
#13
Jason Somers, Hang Ngoc Bao Luong, Judith Mitchell, Philip Batterham, Trent Perry
Nicotinic acetylcholine receptors (nAChRs) are a highly conserved gene family that form pentameric receptors involved in fast excitatory synaptic neurotransmission. The specific roles individual nAChR subunits perform in Drosophila melanogaster and other insects are relatively uncharacterized. Of the 10 D. melanogaster nAChR subunits, only three have described roles in behavioral pathways; Dα3 and Dα4 in sleep, and Dα7 in the escape response. Other subunits have been associated with resistance to several classes of insecticides...
January 2017: Genetics
https://www.readbyqxmd.com/read/28049647/regulating-the-suprachiasmatic-nucleus-scn-circadian-clockwork-interplay-between-cell-autonomous-and-circuit-level-mechanisms
#14
REVIEW
Erik D Herzog, Tracey Hermanstyne, Nicola J Smyllie, Michael H Hastings
The suprachiasmatic nucleus (SCN) is the principal circadian clock of the brain, directing daily cycles of behavior and physiology. SCN neurons contain a cell-autonomous transcription-based clockwork but, in turn, circuit-level interactions synchronize the 20,000 or so SCN neurons into a robust and coherent daily timer. Synchronization requires neuropeptide signaling, regulated by a reciprocal interdependence between the molecular clockwork and rhythmic electrical activity, which in turn depends on a daytime Na(+) drive and nighttime K(+) drag...
January 3, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28041911/disinhibition-of-the-intergeniculate-leaflet-network-in-the-wag-rij-rat-model-of-absence-epilepsy
#15
Lukasz Chrobok, Katarzyna Palus, Jagoda Stanislawa Jeczmien-Lazur, Anna Chrzanowska, Mariusz Kepczynski, Marian Henryk Lewandowski
The intergeniculate leaflet (IGL) of the thalamus is a retinorecipient structure implicated in orchestrating circadian rhythmicity. The IGL network is highly GABAergic and consists mainly of neuropeptide Y-synthesising and enkephalinergic neurons. A high density of GFAP-immunoreactive astrocytes has been observed in the IGL, with a probable function in guarding neuronal inhibition. Interestingly, putatively enkephalinergic IGL neurons generate action potentials with an infra-slow oscillatory (ISO) pattern in vivo in urethane anesthetised Wistar rats, under light-on conditions only...
December 30, 2016: Experimental Neurology
https://www.readbyqxmd.com/read/28035654/seven-days-post-injury-fate-and-effects-of-genetically-labelled-adipose-derived-mesenchymal-cells-on-a-rat-traumatic-brain-injury-experimental-model
#16
Ioanna Dori, Spyros Petrakis, Aggeliki Giannakopoulou, Chryssa Bekiari, Ioannis Grivas, Evangelia K Siska, Georgios Koliakos, Georgios C Papadopoulos
Mesenchymal stromal cells (MSC) have been suggested to have beneficial effects on animal models of traumatic brain injury (TBI), owing to their neurotrophic and immunomodulatory properties. Adipose tissue-derived stromal cells (ASCs) are multipotent MSC that can be harvested with minimally invasive methods, show a high proliferative capacity, low immunogenicity if allogeneic, and can be used in autologous or heterologous settings. In the present study ASCs were genetically labelled using the Sleeping Beauty transposon to express the fluorescent protein Venus...
December 30, 2016: Histology and Histopathology
https://www.readbyqxmd.com/read/28018442/long-term-clinical-course-of-a-patient-with-mucopolysaccharidosis-type-iiib
#17
Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28012092/the-hypocretin-orexin-neuronal-networks-in-zebrafish
#18
Idan Elbaz, Talia Levitas-Djerbi, Lior Appelbaum
The hypothalamic Hypocretin/Orexin (Hcrt) neurons secrete two Hcrt neuropeptides. These neurons and peptides play a major role in the regulation of feeding, sleep wake cycle, reward-seeking, addiction, and stress. Loss of Hcrt neurons causes the sleep disorder narcolepsy. The zebrafish has become an attractive model to study the Hcrt neuronal network because it is a transparent vertebrate that enables simple genetic manipulation, imaging of the structure and function of neuronal circuits in live animals, and high-throughput monitoring of behavioral performance during both day and night...
December 24, 2016: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28007991/genetic-inactivation-of-glutamate-neurons-in-the-rat-sublaterodorsal-tegmental-nucleus-recapitulates-rem-sleep-behaviour-disorder
#19
Sara Valencia Garcia, Paul-Antoine Libourel, Michael Lazarus, Daniela Grassi, Pierre-Hervé Luppi, Patrice Fort
Idiopathic REM sleep behaviour disorder is characterized by the enactment of violent dreams during paradoxical (REM) sleep in the absence of normal muscle atonia. Accumulating clinical and experimental data suggest that REM sleep behaviour disorder might be due to the neurodegeneration of glutamate neurons involved in paradoxical sleep and located within the pontine sublaterodorsal tegmental nucleus. The purpose of the present work was thus to functionally determine first, the role of glutamate sublaterodorsal tegmental nucleus neurons in paradoxical sleep and second, whether their genetic inactivation is sufficient for recapitulating REM sleep behaviour disorder in rats...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28005048/-quality-of-life-of-adult-patients-with-cryptogenic-epilepsy
#20
V A Karlov, O S Inozemtseva
AIM: To determine a position of cryptogenic epilepsy (CE) in relation to idiopathic epilepsy (IE) and symptomatic epilepsy (SE) in the aspect of patients' quality-of-life. MATERIAL AND METHODS: One hundred and fifty patients, including 90 with CE, 30 with SE and 30 with IE, were examined. The severity of epileptic seizures assessed with the NHS3, anxiety and depression assessed with the HADS, sleep disorders, quality-of-life measured with the Qolie-89 were studied...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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