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https://www.readbyqxmd.com/read/29340645/a-plasma-metabolomic-signature-involving-purine-metabolism-in-human-optic-atrophy-1-opa1-related-disorders
#1
Cinzia Bocca, Judith Kouassi Nzoughet, Stéphanie Leruez, Patrizia Amati-Bonneau, Marc Ferré, Mariame-Selma Kane, Charlotte Veyrat-Durebex, Juan Manuel Chao de la Barca, Arnaud Chevrollier, Chadi Homedan, Christophe Verny, Dan Miléa, Vincent Procaccio, Gilles Simard, Dominique Bonneau, Guy Lenaers, Pascal Reynier
Purpose: Dominant optic atrophy (DOA; MIM [Mendelian Inheritance in Man] 165500), resulting in retinal ganglion cell degeneration, is mainly caused by mutations in the optic atrophy 1 (OPA1) gene, which encodes a dynamin guanosine triphosphate (GTP)ase involved in mitochondrial membrane processing. This work aimed at determining whether plasma from OPA1 pathogenic variant carriers displays a specific metabolic signature. Methods: We applied a nontargeted clinical metabolomics pipeline based on ultra-high-pressure liquid chromatography coupled to high-resolution mass spectrometry (UHPLC-HRMS) allowing the exploration of 500 polar metabolites in plasma...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29339533/learning-dependent-chromatin-remodeling-highlights-noncoding-regulatory-regions-linked-to-autism
#2
John N Koberstein, Shane G Poplawski, Mathieu E Wimmer, Giulia Porcari, Charlly Kao, Bruce Gomes, Davide Risso, Hakon Hakonarson, Nancy R Zhang, Robert T Schultz, Ted Abel, Lucia Peixoto
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with genetic risk factors. Most human disease-associated single-nucleotide polymorphisms (SNPs) are not located in genes but rather are in regulatory regions that control gene expression. The function of regulatory regions is determined through epigenetic mechanisms. Parallels between the cellular basis of development and the formation of long-term memory have long been recognized, particularly the role of epigenetic mechanisms in both processes...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29339150/altered-function-of-neuronal-l-type-calcium-channels-in-ageing-and-neuroinflammation-implications-in-age-related-synaptic-dysfunction-and-cognitive-decline
#3
REVIEW
Sheeja Navakkode, Chao Liu, Tuck Wah Soong
The rapid developments in science have led to an increase in human life expectancy and thus, ageing and age-related disorders/diseases have become one of the greatest concerns in the 21st century. Cognitive abilities tend to decline as we get older. This age-related cognitive decline is mainly attributed to aberrant changes in synaptic plasticity and neuronal connections. Recent studies show that alterations in Ca2+ homeostasis underlie the increased vulnerability of neurons to age-related processes like cognitive decline and synaptic dysfunctions...
January 12, 2018: Ageing Research Reviews
https://www.readbyqxmd.com/read/29338491/the-effect-of-ketamine-on-the-consolidation-and-extinction-of-contextual-fear-memory
#4
Nicholas E Clifton, Kerrie L Thomas, Jeremy Hall
Ketamine, principally an antagonist of N-methyl-ᴅ-aspartate receptors, induces schizophrenia-like symptoms in adult humans, warranting its use in the investigation of psychosis-related phenotypes in animal models. Genomic studies further implicate N-methyl-ᴅ-aspartate receptor-mediated processes in schizophrenia pathology, together with more broadly-defined synaptic plasticity and associative learning processes. Strong pathophysiological links have been demonstrated between fear learning and psychiatric disorders such as schizophrenia...
January 1, 2018: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/29337602/defining-the-learning-curve-for-hip-arthroscopy-a-threshold-analysis-of-the-volume-outcomes-relationship
#5
Nabil Mehta, Peter Chamberlin, Robert G Marx, Chisa Hidaka, Yile Ge, Danyal H Nawabi, Stephen Lyman
BACKGROUND: Hip arthroscopy has emerged as a successful option for the treatment of femoroacetabular impingement and related hip disorders, but the procedure is technically challenging. PURPOSE: To define the learning curve through which surgeons become proficient at hip arthroscopy. STUDY DESIGN: Cohort study; level of evidence, 3. METHODS: The authors identified hip arthroscopy procedures performed by surgeons through a New York State database (Statewide Planning and Research Cooperative System) and followed those cases for additional hip surgery (total hip arthroplasty, hip resurfacing, or ipsilateral hip arthroscopy) within 5 years of the original procedure...
January 1, 2018: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/29336488/neonatal-ethanol-exposure-causes-behavioral-deficits-in-young-mice
#6
Wenhua Xu, Andrew B Hawkey, Hui Li, Lu Dai, Howard H Brim, Jacqueline A Frank, Jia Luo, Susan Barron, Gang Chen
BACKGROUND: Fetal ethanol (ETOH) exposure can damage the developing central nervous system and lead to cognitive and behavioral deficits, known as fetal alcohol spectrum disorders (FASD). ETOH exposure to mouse pups during early neonatal development was used as a model of ETOH exposure that overlaps the human third trimester "brain growth spurt" - a model that has been widely used to study FASD in rats. METHODS: C57BL/6 male and female mice were exposed to ETOH (4 g/kg/day) on postnatal days (PD) 4-10 by oral intubation...
January 16, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29336086/learning-to-blast-a-way-into-crime-or-just-good-clean-fun-examining-aggressive-play-with-toy-weapons-and-its-relation-with-crime
#7
Sven Smith, Christopher J Ferguson, Kevin M Beaver
BACKGROUND: Researchers, such as Bandura, have proposed that children's mere exposure to the use of play weapons encourages deviant displays of aggression, but there is very little research to support this hypothesis of 20 years. AIM: To examine the relationship between amount of weapon play and concurrent aggression as well as later violent juvenile crime, while controlling for other variables possibly influencing criminal pathways. METHOD: Using longitudinal survey data collected from mothers and children (n = 2019) from age 5, with follow-up at age 15, correlations between children's play with toy weapons and juvenile criminality were examined...
January 16, 2018: Criminal Behaviour and Mental Health: CBMH
https://www.readbyqxmd.com/read/29335360/activity-in-the-ventral-medial-prefrontal-cortex-is-necessary-for-the-therapeutic-effects-of-extinction-in-rats
#8
Elizabeth A Fucich, Denisse Paredes, Madeleine O Saunders, David A Morilak
Poor response and high relapse rates remain problematic in the treatment of stress-related psychiatric disorders like depression and posttraumatic stress disorder (PTSD). While mechanisms of pharmacotherapies are intensely studied, little is known about mechanisms of behavioral therapy that could inform improved treatments. We have previously demonstrated the therapeutic effects of extinction learning as a behavioral intervention modeling exposure therapy in rats. In the present study, we tested the hypothesis that activity in the ventral medial prefrontal cortex (vmPFC) during extinction is necessary for its therapeutic effects...
January 15, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29335220/adeno-associated-virus-vector-mediated-expression-of-dj-1-attenuates-learning-and-memory-deficits-in-2-2%C3%A2-4-4%C3%A2-tetrabromodiphenyl-ether-bde-47-treated-mice
#9
Juan Zhuang, Shan Wang, Qun Shan, Zi-Feng Zhang, Meng-Qiu Li, Gui-Hong Zheng, Shao-Hua Fan, Dong-Mei Wu, Bin Hu, Jun Lu, Yuan-Lin Zheng
Evidence indicates that oxidative stress is the central pathological feature of 2, 2´, 4, 4´-tetrabromodiphenyl ether (BDE-47)-induced neurotoxicity. Protein kinase C delta (PKCδ), an oxidative stress-sensitive kinase, can be proteolytically cleaved to yield a catalytically active fragment (PKCδ-CF) that is involved in various neurodegenerative disorders. Here, we showed that BDE-47 treatment increased ROS, malondialdehyde, and protein carbonyl levels in the mouse hippocampus. In turn, excessive ROS induced caspase-3-dependent PKCδ activation and stimulated NF-κB p65 nuclear translocation, resulting in inflammation in the mouse hippocampus...
January 8, 2018: Journal of Hazardous Materials
https://www.readbyqxmd.com/read/29334305/twelve-tips-for-teaching-a-comprehensive-disease-focused-course-with-a-global-perspective-a-sickle-cell-disease-example
#10
Dominique Bulgin, Paula Tanabe, Monika Asnani, Charmaine D M Royal
A disease-focused course entitled "Understanding Sickle Cell Disease: A Biopsychosocial Approach" addressed the complex nature of SCD using patient-centered, global and interdisciplinary approaches. Sickle cell disease (SCD) is a rare inherited blood disorder that requires multidisciplinary care. Worldwide 20-25 million individuals have SCD, which is associated with a shortened lifespan due to many medical complications and social and behavioral health challenges. Health care professionals often have limited knowledge of SCD as they typically learn about it within the context of their own disciplines...
January 15, 2018: Medical Teacher
https://www.readbyqxmd.com/read/29333493/a-quality-improvement-project-aimed-at-adapting-primary-care-to-ensure-the-delivery-of-evidence-based-psychotherapy-for-adult-anxiety
#11
Mark D Williams, Craig N Sawchuk, Nathan D Shippee, Kristin J Somers, Summer L Berg, Jay D Mitchell, Angela B Mattson, David J Katzelnick
Primary care patients frequently present with anxiety with prevalence ratios up to 30%. Brief cognitive-behavioural therapy (CBT) has been shown in meta-analytic studies to have a strong effect size in the treatment of anxiety. However, in surveys of anxious primary care patients, nearly 80% indicated that they had not received CBT. In 2010, a model of CBT (Coordinated Anxiety Learning and Management (CALM)) adapted to primary care for adult anxiety was published based on results of a randomised controlled trial...
2018: BMJ Open Quality
https://www.readbyqxmd.com/read/29333487/activation-of-the-medial-prefrontal-cortex-reverses-cognitive-and-respiratory-symptoms-in-a-mouse-model-of-rett-syndrome
#12
C James Howell, Michael P Sceniak, Min Lang, Wenceslas Krakowiecki, Fatimah E Abouelsoud, Saloni U Lad, Heping Yu, David M Katz
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2; Amir et al., 1999), a transcriptional regulatory protein (Klose et al., 2005). Mouse models of RTT (Mecp2 mutants) exhibit excitatory hypoconnectivity in the medial prefrontal cortex (mPFC; Sceniak et al., 2015), a region critical for functions that are abnormal in RTT patients, ranging from learning and memory to regulation of visceral homeostasis (Riga et al...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29333482/flexibility-in-the-face-of-fear-hippocampal-prefrontal-regulation-of-fear-and-avoidance
#13
Justin M Moscarello, Stephen Maren
Generating appropriate defensive behaviors in the face of threat is essential to survival. Although many of these behaviors are 'hard-wired', they are also flexible. For example, Pavlovian fear conditioning generates learned defensive responses, such as conditioned freezing, that can be suppressed through extinction. The expression of extinguished responses is highly context-dependent, allowing animals to engage behavioral responses appropriate to the contexts in which threats are encountered. Likewise, animals and humans will avoid noxious outcomes if given the opportunity...
February 2018: Current Opinion in Behavioral Sciences
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#14
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29331931/resting-state-fmri-signals-in-offspring-of-parents-with-bipolar-disorder-at-the-high-risk-and-ultra-high-risk-stages-and-their-relations-with-cognitive-function
#15
Kangguang Lin, Robin Shao, Rui Lu, Kun Chen, Weicong Lu, Ting Li, Jiehua Kong, Kwok-Fai So, Guiyun Xu
BACKGROUND: Bipolar disorder (BD) has been associated with dysfunctional resting-state brain functioning. However, it is still not known whether the aberrant functioning occurs and predict cognitive functioning before illness onset. AIMS: We examined the resting-state regional and network dysfunctioning, and their correlates with neurocognitive performance, in the high-risk (HR) and ultra-high-risk (UHR) stages of bipolar disorder. METHODS: Using amplitude of low-frequency fluctuations (ALFF), region homogeneity (ReHo) and hypothesis-driven region-of-interest (ROI)-based connectivity, we examined resting-state fMRI data of 8- to 25-year-old healthy offspring (HR, n = 28) and offspring with subthreshold syndromes (UHR, n = 22) of a BD parent, and age-matched healthy controls without any personal or family psychopathology (HC, n = 46)...
January 8, 2018: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29331692/memory-performance-predicts-response-to-psychotherapy-for-depression-in-bipolar-disorder-a-pilot-randomized-controlled-trial-with-exploratory-functional-magnetic-resonance-imaging
#16
Thilo Deckersbach, Amy T Peters, Conor Shea, Aishwarya Gosai, Jonathan P Stange, Andrew D Peckham, Kristen K Ellard, Michael W Otto, Scott L Rauch, Darin D Dougherty, Andrew A Nierenberg
OBJECTIVE: This pilot randomized controlled trial compared Cognitive Behavior Therapy (CBT) and Supportive Psychotherapy (SP) for the treatment of depression in bipolar I disorder. We also examined whether exploratory verbal memory, executive functioning, and neural correlates of verbal memory during functional magnetic resonance imaging (fMRI) predicted change in depression severity. METHODS: Thirty-two adults (ages 18-65) with DSM-IV bipolar I disorder meeting current criteria for a major depressive episode were randomized to 18 weeks of CBT or SP...
December 27, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29330006/cue-and-context-conditioning-to-respiratory-threat-effects-of-suffocation-fear-and-implications-for-the-etiology-of-panic-disorder
#17
Christoph Benke, Manuela G Alius, Alfons O Hamm, Christiane A Pané-Farré
Interoceptive threats play a crucial role in the etiology of panic disorder (PD). While body sensations may become conditioned stimuli (CS) when paired with such interoceptive threats (cue conditioning), the environment in which such interoceptive threats occur may also be learned as a predictor of threat (context conditioning). Suffocation fear (SF) might facilitate these associative learning processes if threats of suffocation become relevant as unconditioned stimuli (US). To investigate whether SF affects associative learning during such respiratory threat, we used mild dyspnea as CS that predicted the occurrence of strong dyspnea (US) in one context (predictable), was not related to the occurrence of the US in another context (unpredictable) or was presented in a different context (safe) in which no US was delivered...
January 9, 2018: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/29329723/prolonged-grief-and-cognitive-decline-a-prospective-population-based-study-in-middle-aged-and-older-persons
#18
Heidi C Saavedra Pérez, M Arfan Ikram, Nese Direk, Henning Tiemeier
OBJECTIVE: Bereavement can result in unresolved and prolonged grief, often termed prolonged grief disorder (PGD). The impact of PGD on cognitive functioning is poorly understood. The aim of the study was to compare the cognitive decline, assessed by repeated measures of different cognition domains, between persons with normal and PGD and a non-grieving reference population in a 7-year follow-up study. METHODS: The study sample comprised 3126 non-demented persons, mean age: 64 years, of the Rotterdam Study...
December 12, 2017: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/29329259/extreme-overvalued-beliefs-how-violent-extremist-beliefs-become-normalized
#19
Tahir Rahman
Extreme overvalued beliefs (EOB) are rigidly held, non-deusional beliefs that are the motive behind most acts of terrorism and mass shootings. EOBs are differentiated from delusions and obsessions. The concept of an overvalued idea was first described by Wernicke and later applied to terrorism by McHugh. Our group of forensic psychiatrists (Rahman, Resnick, Harry) refined the definition as an aid in the differential diagnosis seen in acts of violence. The form and content of EOBs is discussed as well as group effects, conformity, and obedience to authority...
January 12, 2018: Behavioral Sciences
https://www.readbyqxmd.com/read/29328501/cognitive-control-functions-in-individuals-with-obesity-with-and-without-binge-eating-disorder
#20
Ines Kollei, Martina Rustemeier, Stefanie Schroeder, Sebastian Jongen, Stephan Herpertz, Sabine Loeber
OBJECTIVE: Deficits in cognitive control are thought to contribute to the maintenance of obesity (OB). Cognitive control is referred to as impulsivity and binge-eating disorder (BED) is characterized by high levels of impulsivity. The present study sought to elucidate which cognitive control functions differentiate between severe OB with and without BED also taking into account hunger as a moderating factor. METHOD: The study included 48 individuals with OB and BED (OB + BED), 48 individuals with OB and no BED (OB - BED) and 48 normal-weight controls (NWC)...
January 12, 2018: International Journal of Eating Disorders
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