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https://www.readbyqxmd.com/read/28346588/association-between-childhood-onset-epilepsy-and-amyloid-burden-5-decades-later
#1
Juho Joutsa, Juha O Rinne, Bruce Hermann, Mira Karrasch, Anu Anttinen, Shlomo Shinnar, Matti Sillanpää
Importance: The effect of childhood epilepsy on later-life cognitive and brain health is an unclear and little-explored issue. Objective: To determine whether adults with a history of childhood-onset epilepsy exhibit increased brain amyloid accumulation, possibly predisposing to accelerated cognitive impairment or even frank cognitive disorders in later life. Design, Setting, and Participants: Forty-one adults from a population-based cohort of individuals with childhood-onset epilepsy in southwestern Finland, together with 46 matched population-based controls, underwent amyloid ligand carbon 11-labeled Pittsburgh Compound B (PiB) positron emission tomography after long-term prospective follow-up...
March 27, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#2
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28345617/stimulation-of-adult-hippocampal-neurogenesis-by-physical-exercise-and-enriched-environment-is-disturbed-in-a-cadasil-mouse-model
#3
C Klein, S Schreyer, F E Kohrs, P Elhamoury, A Pfeffer, T Munder, B Steiner
In the course of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a dysregulated adult hippocampal neurogenesis has been suggested as a potential mechanism for early cognitive decline. Previous work has shown that mice overexpressing wild type Notch3 and mice overexpressing Notch3 with a CADASIL mutation display impaired cell proliferation and survival of newly born hippocampal neurons prior to vascular abnormalities. Here, we aimed to elucidate how the long-term survival of these newly generated neurons is regulated by Notch3...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345275/abnormal-frontoparietal-synaptic-gain-mediating-the-p300-in-patients-with-psychotic-disorder-and-their-unaffected-relatives
#4
Álvaro Díez, Siri Ranlund, Dimitris Pinotsis, Stella Calafato, Madiha Shaikh, Mei-Hua Hall, Muriel Walshe, Ángel Nevado, Karl J Friston, Rick A Adams, Elvira Bramon
The "dysconnection hypothesis" of psychosis suggests that a disruption of functional integration underlies cognitive deficits and clinical symptoms. Impairments in the P300 potential are well documented in psychosis. Intrinsic (self-)connectivity in a frontoparietal cortical hierarchy during a P300 experiment was investigated. Dynamic Causal Modeling was used to estimate how evoked activity results from the dynamics of coupled neural populations and how neural coupling changes with the experimental factors...
March 27, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28344438/learning-disabilities-in-neuromuscular-disorders-a-springboard-for-adult-life
#5
Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M Santorelli, Chiara Pecini
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form)...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28343366/motor-learning-in-animal-models-of-parkinson-s-disease-aberrant-synaptic-plasticity-in-the-motor-cortex
#6
REVIEW
Tonghui Xu, Shaofang Wang, Rupa R Lalchandani, Jun B Ding
In Parkinson's disease (PD), dopamine depletion causes major changes in the brain, resulting in the typical cardinal motor features of the disease. PD neuropathology has been restricted to postmortem examinations, which are limited to only a single time of PD progression. Models of PD in which dopamine tone in the brain is chemically or physically disrupted are valuable tools in understanding the mechanisms of the disease. The basal ganglia have been well studied in the context of PD, and circuit changes in response to dopamine loss have been linked to the motor dysfunctions in PD...
March 25, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28342849/comparative-effects-of-etoh-consumption-and-thiamine-deficiency-on-cognitive-impairment-oxidative-damage-and-%C3%AE-amyloid-peptide-overproduction-in-the-brain
#7
Yu-Shi Gong, Kun Hu, Lu-Qi Yang, Juan Guo, Yong-Qing Gao, Feng-Lin Song, Fang-Li Hou, Cui-Yi Liang
The effects of chronic EtOH consumption, associated or not with thiamine deficiency (TD), on cognitive impairment, oxidative damage, and β-amyloid (Aβ) peptide accumulation in the brain were investigated in male C57BL/6 mice. We established an alcoholic mouse model by feeding an EtOH liquid diet, a TD mouse model by feeding a thiamine-depleted liquid diet, and an EtOH treatment associated with TD mouse model by feeding a thiamine-depleted EtOH liquid diet for 7 weeks. The learning and memory functions of the mice were detected through the Y-maze test...
March 22, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28342823/evidence-that-increased-kcnj6-gene-dose-is-necessary-for-deficits-in-behavior-and-dentate-gyrus-synaptic-plasticity-in-the-ts65dn-mouse-model-of-down-syndrome
#8
Alexander M Kleschevnikov, Jessica Yu, Jeesun Kim, Larisa V Lysenko, Zheng Zhen, Y Eugene Yu, William C Mobley
Down syndrome (DS), trisomy 21, is caused by increased dose of genes present on human chromosome 21 (HSA21). The gene-dose hypothesis argues that a change in the dose of individual genes or regulatory sequences on HSA21 is necessary for creating DS-related phenotypes, including cognitive impairment. We focused on a possible role for Kcnj6, the gene encoding Kir3.2 (Girk2) subunits of a G-protein-coupled inwardly-rectifying potassium channel. This gene resides on a segment of mouse Chromosome 16 that is present in one extra copy in the genome of the Ts65Dn mouse, a well-studied genetic model of DS...
March 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28342697/recent-publications-from-the-alzheimer-s-disease-neuroimaging-initiative-reviewing-progress-toward-improved-ad-clinical-trials
#9
REVIEW
Michael W Weiner, Dallas P Veitch, Paul S Aisen, Laurel A Beckett, Nigel J Cairns, Robert C Green, Danielle Harvey, Clifford R Jack, William Jagust, John C Morris, Ronald C Petersen, Andrew J Saykin, Leslie M Shaw, Arthur W Toga, John Q Trojanowski
INTRODUCTION: The Alzheimer's Disease Neuroimaging Initiative (ADNI) has continued development and standardization of methodologies for biomarkers and has provided an increased depth and breadth of data available to qualified researchers. This review summarizes the 450+ publications using ADNI data during 2014 and 2015. METHODS: We used standard searches to find publications using ADNI data. RESULTS: (1) Structural and functional changes, including subtle changes to hippocampal shape and texture, atrophy in areas outside of hippocampus, and disruption to functional networks, are detectable in presymptomatic subjects before hippocampal atrophy; (2) In subjects with abnormal β-amyloid deposition (Aβ+), biomarkers become abnormal in the order predicted by the amyloid cascade hypothesis; (3) Cognitive decline is more closely linked to tau than Aβ deposition; (4) Cerebrovascular risk factors may interact with Aβ to increase white-matter (WM) abnormalities which may accelerate Alzheimer's disease (AD) progression in conjunction with tau abnormalities; (5) Different patterns of atrophy are associated with impairment of memory and executive function and may underlie psychiatric symptoms; (6) Structural, functional, and metabolic network connectivities are disrupted as AD progresses...
March 22, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28341686/incidental-findings-on-brain-mri-of-cognitively-normal-first-degree-descendants-of-patients-with-alzheimer-s-disease-a-cross-sectional-analysis-from-the-alfa-alzheimer-and-families-project
#10
Anna Brugulat-Serrat, Santiago Rojas, Nuria Bargalló, Gerardo Conesa, Carolina Minguillón, Karine Fauria, Nina Gramunt, José Luis Molinuevo, Juan Domingo Gispert
OBJECTIVES: To describe the prevalence of brain MRI incidental findings (IF) in a cohort of cognitively normal first-degree descendants of patients with Alzheimer's disease (AD). DESIGN: Cross-sectional observational study. SETTING: All scans were obtained with a 3.0 T scanner. Scans were evaluated by a single neuroradiologist and IF recorded and categorised. The presence of white matter hyperintensities (WMH) was determined with the Fazekas scale and reported as relevant if ≥2...
March 24, 2017: BMJ Open
https://www.readbyqxmd.com/read/28341559/-moyamoya-disease-associated-with-kidney-angiodysplasia-in-a-child
#11
A Dibi, Z Maana, F Jabourik, A Bentahila
INTRODUCTION: Moyamoya disease is a progressive, chronic occlusive vascular disease of the circle of Willis arteries leading to the development of collateral circulation to compensate the occlusion. CASE REPORT: An 11-year-old girl presented an abrupt loss of consciousness and a right-sided motor deficit. Clinical examination found hypertension with 220/120mmHg arterial blood pressure. Brain magnetic resonance imaging showed a large left hemispheric ischemic lesion...
March 21, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28341347/remote-limb-ischemic-post-conditioning-during-early-reperfusion-alleviates-cerebral-ischemic-reperfusion-injury-via-gsk-3%C3%AE-creb-bdnf-pathway
#12
Sruthi Ramagiri, Rajeev Taliyan
Remote limb ischemic post conditioning (RIPOC) has been reported to attenuate cerebral ischemic reperfusion (I/R) injury, while the molecular mechanisms remain elusive. Various studies have highlighted the involvement of glycogen synthase kinase (GSK-3β) in cerebral I/R injury and cognitive disorders. Hence, the present study was designed to explore the role of GSK-3β and its downstream regulators in RIPOC mediated neuroprotection against cerebral I/R injury and associated cognitive impairment. Male Wistar rats are randomly assigned into four groups: Sham, bilateral common carotid arteries occlusion (BCCAO), RIPOC and BCCAO+RIPOC...
March 21, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28340583/inflammatory-signature-of-cerebellar-neurodegeneration-during-neonatal-hyperbilirubinemia-in-ugt1-mouse-model
#13
Simone Vodret, Giulia Bortolussi, Jana Jašprová, Libor Vitek, Andrés F Muro
BACKGROUND: Severe hyperbilirubinemia is toxic during central nervous system development. Prolonged and uncontrolled high levels of unconjugated bilirubin lead to bilirubin-induced neurological damage and eventually death by kernicterus. Bilirubin neurotoxicity is characterized by a wide array of neurological deficits, including irreversible abnormalities in motor, sensitive and cognitive functions, due to bilirubin accumulation in the brain. Despite the abundant literature documenting the in vitro and in vivo toxic effects of bilirubin, it is unclear which molecular and cellular events actually characterize bilirubin-induced neurodegeneration in vivo...
March 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28337761/depression-and-cognitive-deficits-as-long-term-consequences-of-thrombotic-thrombocytopenic-purpura
#14
Tanja Falter, Veronique Schmitt, Stephanie Herold, Veronika Weyer, Charis von Auer, Stefanie Wagner, Gudrun Hefner, Manfred Beutel, Karl Lackner, Bernhard Lämmle, Inge Scharrer
BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is an acute life-threatening microangiopathy with a tendency of relapse characterized by consumptive thrombocytopenia, microangiopathic hemolytic anemia, and spontaneous von Willebrand factor-induced platelet clumping leading to microthrombi. The brain is frequently affected by microthrombi leading to neurologic abnormalities of varying severity. STUDY DESIGN AND METHODS: The aim of this observational cohort study was to investigate the prevalence of depression and cognitive deficits in 104 patients having survived acute TTP...
March 24, 2017: Transfusion
https://www.readbyqxmd.com/read/28336768/care-of-girls-and-women-with-turner-syndrome-beyond-growth-and-hormones
#15
Caroline Culen, Diana-Allexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2,500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life...
March 23, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28336581/differential-impact-of-symptom-prevalence-and-chronic-conditions-on-quality-of-life-in-cancer-survivors-and-non-cancer-individuals-a-population-study
#16
I-Chan Huang, Melissa M Hudson, Leslie L Robison, Kevin R Krull
BACKGROUND: To compare associations of symptom prevalence, chronic conditions, and health-related quality of life (HRQOL) between cancer survivors and non-cancer individuals using the U.S. National Health Interview Survey. METHODS: Study samples comprised 604 survivors and 6,166 non-cancer individuals. Symptoms included sensation abnormality, pain, fatigue, cognitive disturbance, depression, and anxiety. Physical and mental HRQOL was measured by the Patient-Reported Outcomes Measurement Information System...
March 23, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28336433/early-stage-reduction-of-the-dendritic-complexity-in-basolateral-amygdala-of-a-transgenic-mouse-model-of-alzheimer-s-disease
#17
Congdi Guo, Ben Long, Yarong Hu, Jing Yuan, Hui Gong, Xiangning Li
Alzheimer's disease is a representative age-related neurodegenerative disease that could result in loss of memory and cognitive deficiency. However, the precise onset time of Alzheimer's disease affecting neuronal circuits and the mechanisms underlying the changes are not clearly known. To address the neuroanatomical changes during the early pathologic developing process, we acquired the neuronal morphological characterization of AD in APP/PS1 double-transgenic mice using the Micro-Optical Sectioning Tomography system...
March 20, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28336394/ts1cje-down-syndrome-model-mice-exhibit-environmental-stimuli-triggered-locomotor-hyperactivity-and-sociability-concurrent-with-increased-flux-through-central-dopamine-and-serotonin-metabolism
#18
Atsushi Shimohata, Keiichi Ishihara, Satoko Hattori, Hiroyuki Miyamoto, Hiromasa Morishita, Guy Ornthanalai, Matthieu Raveau, Abdul Shukkur Ebrahim, Kenji Amano, Kazuyuki Yamada, Haruhiko Sago, Satoshi Akiba, Nobuko Mataga, Niall P Murphy, Tsuyoshi Miyakawa, Kazuhiro Yamakawa
Ts1Cje mice have a segmental trisomy of chromosome 16 that is orthologous to human chromosome 21 and display Down syndrome-like cognitive impairments. Despite the occurrence of affective and emotional impairments in patients with Down syndrome, these parameters are poorly documented in Down syndrome mouse models, including Ts1Cje mice. Here, we conducted comprehensive behavioral analyses, including anxiety-, sociability-, and depression-related tasks, and biochemical analyses of monoamines and their metabolites in Ts1Cje mice...
March 20, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28334883/selective-impairment-of-hippocampus-and-posterior-hub-areas-in-alzheimer-s-disease-an-meg-based-multiplex-network-study
#19
Meichen Yu, Marjolein M A Engels, Arjan Hillebrand, Elisabeth C W van Straaten, Alida A Gouw, Charlotte Teunissen, Wiesje M van der Flier, Philip Scheltens, Cornelis J Stam
Although frequency-specific network analyses have shown that functional brain networks are altered in patients with Alzheimer's disease, the relationships between these frequency-specific network alterations remain largely unknown. Multiplex network analysis is a novel network approach to study complex systems consisting of subsystems with different types of connectivity patterns. In this study, we used magnetoencephalography to integrate five frequency-band specific brain networks in a multiplex framework...
March 16, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334879/altered-sleep-homeostasis-correlates-with-cognitive-impairment-in-patients-with-focal-epilepsy
#20
Melanie Boly, Benjamin Jones, Graham Findlay, Erin Plumley, Armand Mensen, Bruce Hermann, Guilio Tononi, Rama Maganti
In animal studies, both seizures and interictal spikes induce synaptic potentiation. Recent evidence suggests that electroencephalogram slow wave activity during sleep reflects synaptic potentiation during wake, and that its homeostatic decrease during the night is associated with synaptic renormalization and its beneficial effects. Here we asked whether epileptic activity induces plastic changes that can be revealed by high-density electroencephalography recordings during sleep in 15 patients with focal epilepsy and 15 control subjects...
March 14, 2017: Brain: a Journal of Neurology
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