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https://www.readbyqxmd.com/read/28102593/a-case-for-cannabidiol-in-wolf-hirschhorn-syndrome-seizure-management
#1
Karen S Ho, E Robert Wassman
Complex, and sometimes intractable, seizures affect the quality of life and cognitive development of over 90% of individuals with Wolf-Hirschhorn syndrome (WHS). Fine resolution genotype-phenotype mapping of the WHS locus recently identified a candidate gene whose probable function has led to insights into a mechanism connecting WHS seizures with those of Dravet syndrome, a distinct condition caused by mutations in SCN1A and SCN1B. In addition to this possible molecular mechanistic connection, these disorders' seizures share a strikingly similar constellation of features, including clinical presentation, seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102362/evaluation-of-region-selective-bilirubin-induced-brain-damage-as-a-basis-for-a-pharmacological-treatment
#2
Matteo Dal Ben, Cristina Bottin, Fabrizio Zanconati, Claudio Tiribelli, Silvia Gazzin
The neurologic manifestations of neonatal hyperbilirubinemia in the central nervous system (CNS) exhibit high variations in the severity and appearance of motor, auditory and cognitive symptoms, which is suggestive of a still unexplained selective topography of bilirubin-induced damage. By applying the organotypic brain culture (OBC: preserving in vitro the cellular complexity, connection and architecture of the in vivo brain) technique to study hyperbilirubinemia, we mapped the regional target of bilirubin-induced damage, demonstrated a multifactorial toxic action of bilirubin, and used this information to evaluate the efficacy of drugs applicable to newborns to protect the brain...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102227/singular-location-and-signaling-profile-of-adenosine-a2a-cannabinoid-cb1-receptor-heteromers-in-the-dorsal-striatum
#3
Estefanía Moreno, Anna Chiarlone, Mireia Medrano, Mar Puigdellívol, Lucka Bibic, Lesley A Howell, Eva Resel, Nagore Puente, María J Casarejos, Juan Perucho, Joaquín Botta, Nuria Suelves, Francisco Ciruela, Silvia Ginés, Ismael Galve-Roperh, Vicent Casadó, Pedro Grandes, Beat Lutz, Krisztina Monory, Enric I Canela, Carmen Lluís, Peter J McCormick, Manuel Guzmán
The dorsal striatum is a key node for many neurobiological processes such as motor activity, cognitive functions, and affective processes. The proper functioning of striatal neurons relies critically on metabotropic receptors. Specifically, the main adenosine and endocannabinoid receptors present in the striatum, ie, adenosine A2A receptor (A2AR) and cannabinoid CB1 receptor (CB1R), are of pivotal importance in the control of neuronal excitability. Facilitatory and inhibitory functional interactions between striatal A2AR and CB1R have been reported, and evidence supports that this cross-talk may rely, at least in part, on the formation of A2AR-CB1R heteromeric complexes...
January 19, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28101648/the-limits-of-boundaries-unpacking-localization-and-cognitive-mapping-relative-to-a-boundary
#4
Ruojing Zhou, Weimin Mou
Previous research (Zhou, Mou, Journal of Experimental Psychology: Learning, Memory and Cognition 42(8):1316-1323, 2016) showed that learning individual locations relative to a single landmark, compared to learning relative to a boundary, led to more accurate inferences of inter-object spatial relations (cognitive mapping of multiple locations). Following our past findings, the current study investigated whether the larger number of reference points provided by a homogeneous circular boundary, as well as less accessible knowledge of direct spatial relations among the multiple reference points, would lead to less effective cognitive mapping relative to the boundary...
January 19, 2017: Psychological Research
https://www.readbyqxmd.com/read/28100728/direct-cortical-stimulation-of-human-posteromedial-cortex
#5
Brett L Foster, Josef Parvizi
BACKGROUND: The posteromedial cortex (PMC) is a collective term for an anatomically heterogeneous area of the brain constituting a core node of the human default mode network (DMN), which is engaged during internally focused subjective cognition such as autobiographical memory. METHODS: We explored the effects of causal perturbations of PMC with direct electric brain stimulation (EBS) during presurgical epilepsy monitoring with intracranial EEG electrodes. RESULTS: Data were collected from 885 stimulations in 25 patients implanted with intracranial electrodes across the PMC...
January 18, 2017: Neurology
https://www.readbyqxmd.com/read/28100727/quantitative-assessment-of-white-matter-injury-in-preterm-neonates-association-with-outcomes
#6
Ting Guo, Emma G Duerden, Elysia Adams, Vann Chau, Helen M Branson, M Mallar Chakravarty, Kenneth J Poskitt, Anne Synnes, Ruth E Grunau, Steven P Miller
OBJECTIVE: To quantitatively assess white matter injury (WMI) volume and location in very preterm neonates, and to examine the association of lesion volume and location with 18-month neurodevelopmental outcomes. METHODS: Volume and location of WMI was quantified on MRI in 216 neonates (median gestational age 27.9 weeks) who had motor, cognitive, and language assessments at 18 months corrected age (CA). Neonates were scanned at 32.1 postmenstrual weeks (median) and 68 (31...
January 18, 2017: Neurology
https://www.readbyqxmd.com/read/28093358/mapping-the-functional-connectome-traits-of-levels-of-consciousness
#7
Enrico Amico, Daniele Marinazzo, Carol Di Perri, Lizette Heine, Jitka Annen, Charlotte Martial, Mario Dzemidzic, Murielle Kirsch, Vincent Bonhomme, Steven Laureys, Joaquín Goñi
Examining task-free functional connectivity (FC) in the human brain offers insights on how spontaneous integration and segregation of information relate to human cognition, and how this organization may be altered in different conditions, and neurological disorders. This is particularly relevant for patients in disorders of consciousness (DOC) following severe acquired brain damage and coma, one of the most devastating conditions in modern medical care. We present a novel data-driven methodology, connICA, which implements Independent Component Analysis (ICA) for the extraction of robust independent FC patterns (FC-traits) from a set of individual functional connectomes, without imposing any a priori data stratification into groups...
January 13, 2017: NeuroImage
https://www.readbyqxmd.com/read/28092591/relational-regularized-discriminative-sparse-learning-for-alzheimer-s-disease-diagnosis
#8
Baiying Lei, Peng Yang, Tianfu Wang, Siping Chen, Dong Ni
Accurate identification and understanding informative feature is important for early Alzheimer's disease (AD) prognosis and diagnosis. In this paper, we propose a novel discriminative sparse learning method with relational regularization to jointly predict the clinical score and classify AD disease stages using multimodal features. Specifically, we apply a discriminative learning technique to expand the class-specific difference and include geometric information for effective feature selection. In addition, two kind of relational information are incorporated to explore the intrinsic relationships among features and training subjects in terms of similarity learning...
January 16, 2017: IEEE Transactions on Cybernetics
https://www.readbyqxmd.com/read/28091782/adaptation-perceptual-learning-and-plasticity-of-brain-functions
#9
REVIEW
Jonathan C Horton, Manfred Fahle, Theo Mulder, Susanne Trauzettel-Klosinski
The capacity for functional restitution after brain damage is quite different in the sensory and motor systems. This series of presentations highlights the potential for adaptation, plasticity, and perceptual learning from an interdisciplinary perspective. The chances for restitution in the primary visual cortex are limited. Some patterns of visual field loss and recovery after stroke are common, whereas others are impossible, which can be explained by the arrangement and plasticity of the cortical map. On the other hand, compensatory mechanisms are effective, can occur spontaneously, and can be enhanced by training...
January 14, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28089854/effects-of-adolescent-methamphetamine-and-nicotine-exposure-on-behavioral-performance-and-map-2-immunoreactivity-in-the-nucleus-accumbens-of-adolescent-mice
#10
Jordan M Buck, Alysse S Morris, Sydney J Weber, Jacob Raber, Jessica A Siegel
The neurotoxic effects of methamphetamine (MA) exposure in the developing and adult brain can lead to behavioral alterations and cognitive deficits in adults. Previous increases in the rates of adolescent MA use necessitate that we understand the behavioral and cognitive effects of MA exposure during adolescence on the adolescent brain. Adolescents using MA exhibit high rates of nicotine (NIC) use, but the effects of concurrent MA and NIC in the adolescent brain have not been examined, and it is unknown if NIC mediates any of the effects of MA in the adolescent...
January 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28089516/environmental-geometry-aligns-the-hippocampal-map-during-spatial-reorientation
#11
Alex T Keinath, Joshua B Julian, Russell A Epstein, Isabel A Muzzio
When a navigator's internal sense of direction is disrupted, she must rely on external cues to regain her bearings, a process termed spatial reorientation. Extensive research has demonstrated that the geometric shape of the environment exerts powerful control over reorientation behavior, but the neural and cognitive mechanisms underlying this phenomenon are not well understood. Whereas some theories claim that geometry controls behavior through an allocentric mechanism potentially tied to the hippocampus, others postulate that disoriented navigators reach their goals by using an egocentric view-matching strategy...
January 11, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28089142/bedside-monitoring-of-cerebral-energy-state-during-cardiac-surgery-a-novel-approach-utilizing-intravenous-microdialysis
#12
Simon Mölström, Troels H Nielsen, Claus Andersen, Carl H Nordström, Palle Toft
OBJECTIVES: This study investigated whether the lactate-to-pyruvate (LP) ratio obtained by microdialysis (MD) of the cerebral venous outflow reflected a derangement of global cerebral energy state during cardiopulmonary bypass (CPB). DESIGN: Interventional, prospective, randomized study. SETTING: Single-center, university teaching hospital. PARTICIPANTS: The study included 10 patients undergoing primary, elective coronary artery bypass grafting...
November 2, 2016: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28088928/multi-modal-mri-investigation-of-volumetric-and-microstructural-changes-in-the-hippocampus-and-its-subfields-in-mild-cognitive-impairment-alzheimer-s-disease-and-dementia-with-lewy-bodies
#13
Elijah Mak, Silvy Gabel, Li Su, Guy B Williams, Robert Arnold, Luca Passamonti, Patricia Vazquez Rodríguez, Ajenthan Surendranathan, W Richard Bevan-Jones, James B Rowe, John T O'Brien
BACKGROUND: Volumetric atrophy and microstructural alterations in diffusion tensor imaging (DTI) measures of the hippocampus have been reported in people with Alzheimer's disease (AD) and mild cognitive impairment (MCI). However, no study to date has jointly investigated concomitant microstructural and volumetric changes of the hippocampus in dementia with Lewy bodies (DLB). METHODS: A total of 84 subjects (23 MCI, 17 DLB, 14 AD, and 30 healthy controls) were recruited for a multi-modal imaging (3T MRI and DTI) study that included neuropsychological evaluation...
January 16, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28088063/verbal-and-musical-short-term-memory-variety-of-auditory-disorders-after-stroke
#14
Catherine Hirel, Norbert Nighoghossian, Yohana Lévêque, Salem Hannoun, Lesly Fornoni, Sébastien Daligault, Patrick Bouchet, Julien Jung, Barbara Tillmann, Anne Caclin
Auditory cognitive deficits after stroke may concern language and/or music processing, resulting in aphasia and/or amusia. The aim of the present study was to assess the potential deficits of auditory short-term memory for verbal and musical material after stroke and their underlying cerebral correlates with a Voxel-based Lesion Symptom Mapping approach (VLSM). Patients with an ischemic stroke in the right (N=10) or left (N=10) middle cerebral artery territory and matched control participants (N=14) were tested with a detailed neuropsychological assessment including global cognitive functions, music perception and language tasks...
January 11, 2017: Brain and Cognition
https://www.readbyqxmd.com/read/28086848/using-intervention-mapping-to-develop-the-parents-as-agents-of-change-pac-%C3%A2-intervention-for-managing-pediatric-obesity
#15
Geoff D C Ball, Aislin R Mushquash, Rachel A Keaschuk, Kathryn A Ambler, Amanda S Newton
BACKGROUND: Pediatric obesity has become increasingly prevalent over recent decades. In view of the psychosocial and physical health risks, and the high likelihood that children with obesity will grow to become adults with obesity, there is a clear need to develop evidence-based interventions that can be delivered in the health care system to optimize the health and well-being of children with obesity and their families. The aim of this paper is to describe the development, implementation, and planned evaluation of a parent-based weight management intervention designed for parents of 8-12 year olds with obesity...
January 13, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28078911/c5a-increases-the-injury-to-primary-neurons-elicited-by-fibrillar-amyloid-beta
#16
Michael X Hernandez, Pouya Namiranian, Eric Nguyen, Maria I Fonseca, Andrea J Tenner
C5aR1, the proinflammatory receptor for C5a, is expressed in the central nervous system on microglia, endothelial cells, and neurons. Previous work demonstrated that the C5aR1 antagonist, PMX205, decreased amyloid pathology and suppressed cognitive deficits in two Alzheimer's Disease (AD) mouse models. However, the cellular mechanisms of this protection have not been definitively demonstrated. Here, primary cultured mouse neurons treated with exogenous C5a show reproducible loss of MAP-2 staining in a dose-dependent manner within 24 hr of treatment, indicative of injury to neurons...
February 2017: ASN Neuro
https://www.readbyqxmd.com/read/28078323/genetic-architecture-of-age-related-cognitive-decline-in-african-americans
#17
Towfique Raj, Lori B Chibnik, Cristin McCabe, Andus Wong, Joseph M Replogle, Lei Yu, Sujuan Gao, Frederick W Unverzagt, Barbara Stranger, Jill Murrell, Lisa Barnes, Hugh C Hendrie, Tatiana Foroud, Anna Krichevsky, David A Bennett, Kathleen S Hall, Denis A Evans, Philip L De Jager
OBJECTIVE: To identify genetic risk factors associated with susceptibility to age-related cognitive decline in African Americans (AAs). METHODS: We performed a genome-wide association study (GWAS) and an admixture-mapping scan in 3,964 older AAs from 5 longitudinal cohorts; for each participant, we calculated a slope of an individual's global cognitive change from neuropsychological evaluations. We also performed a pathway-based analysis of the age-related cognitive decline GWAS...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#18
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28077667/the-role-of-the-cerebellum-in-high-stages-of-motor-planning-hierarchy
#19
Luca Casartelli, Alessandra Federici, Ambra Cesareo, Emilia Biffi, Giulia Valtorta, Massimo Molteni, Luca Ronconi, Renato Borgatti
Motor planning is not a monolithic process, and distinct stages of motor planning are responsible for encoding different levels of abstractness. However, how these distinct components are mapped into different neural substrates remains an open question. We studied one of these high-level motor planning components, defined as second-order motor planning, in a patient (R.G.) with an extremely rare case of cerebellar agenesis but without any other cortical malformations. Second-order motor planning dictates that when two acts have to be performed sequentially, planning of the second act can influence the execution of the first...
January 11, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28077184/abnormalities-in-the-effective-connectivity-of-visuothalamic-circuitry-in-schizophrenia
#20
S J Iwabuchi, L Palaniyappan
BACKGROUND: Sensory-processing deficits appear crucial to the clinical expression of symptoms of schizophrenia. The visual cortex displays both dysconnectivity and aberrant spontaneous activity in patients with persistent symptoms and cognitive deficits. In this paper, we examine visual cortex in the context of the remerging notion of thalamic dysfunction in schizophrenia. We examined specific regional and longer-range abnormalities in sensory and thalamic circuits in schizophrenia, and whether these patterns are strong enough to discriminate symptomatic patients from controls...
January 12, 2017: Psychological Medicine
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