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Cortical visual impairment

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https://www.readbyqxmd.com/read/29241728/an-actin-cytoskeletal-barrier-inhibits-lytic-granule-release-from-natural-killer-cells-in-chediak-higashi-syndrome
#1
Aleksandra Gil-Krzewska, Mezida B Saeed, Anna Oszmiana, Elizabeth R Fischer, Kathryn Lagrue, William A Gahl, Wendy J Introne, John E Coligan, Daniel M Davis, Konrad Krzewski
BACKGROUND: Chediak-Higashi syndrome (CHS) is a rare disorder caused by biallelic mutations in the LYST gene, resulting in formation of giant lysosomes or lysosome-related organelles in several cell types. The disease is characterized by immunodeficiency and a fatal hemophagocytic lymphohistiocytosis due to impaired function of cytotoxic lymphocytes, mainly Natural Killer (NK) cells. OBJECTIVE: We sought to determine the underlying biochemical cause of the impaired cytotoxicity of NK cells in CHS...
December 11, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29237554/feature-based-attention-potentiates-recovery-of-fine-direction-discrimination-in-cortically-blind-patients
#2
Matthew R Cavanaugh, Antoine Barbot, Marisa Carrasco, Krystel R Huxlin
Training chronic, cortically-blind (CB) patients on a coarse [left-right] direction discrimination and integration (CDDI) task recovers performance on this task at trained, blind field locations. However, fine direction difference (FDD) thresholds remain elevated at these locations, limiting the usefulness of recovered vision in daily life. Here, we asked if this FDD impairment can be overcome by training CB subjects with endogenous, feature-based attention (FBA) cues. Ten CB subjects were recruited and trained on CDDI and FDD with an FBA cue or FDD with a neutral cue...
December 10, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/29237403/isolated-and-repeated-stroke-like-episodes-in-a-middle-aged-man-with-a-mitochondrial-nd3-t10158c-mutation-a-case-report
#3
Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-Ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono, Tetsuro Ago
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS. CASE PRESENTATION: A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes...
December 13, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29232345/factors-associated-with-lack-of-vision-improvement-in-children-with-cortical-visual-impairment
#4
Swati Handa, Seyed E Saffari, Mark Borchert
BACKGROUND: Improvement in vision has been noted in children with cortical visual impairment (CVI), resulting from disparate types of brain injury. The purpose of our study was to determine the risk factors associated with poor recovery of vision in this group of patients. METHODS: Case records of children who were born before 2010 with at least 4 follow-up visits for CVI were reviewed for underlying etiologies of CVI, visual acuity (VA), and associated neurological and ophthalmological disorders...
December 8, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29222591/dementia-with-lewy-bodies-and-parkinson-s-disease-dementia-current-concepts-and-controversies
#5
REVIEW
Kurt A Jellinger
Dementia with Lewy bodies (DLB) and Parkinson's disease-dementia (PDD), although sharing many clinical, neurochemical and morphological features, according to DSM-5, are two entities of major neurocognitive disorders with Lewy bodies of unknown etiology. Despite considerable clinical overlap, their diagnosis is based on an arbitrary distinction between the time of onset of motor and cognitive symptoms: dementia often preceding parkinsonism in DLB and onset of cognitive impairment after onset of motor symptoms in PDD...
December 8, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29219760/direct-visualization-of-microcirculation-impairment-after-acute-subdural-hemorrhage-in-a-novel-animal-model
#6
Huan-Chih Wang, Jui-Chang Tsai, Jing-Er Lee, Sheng-Jean Huang, Abel Po-Hao Huang, Wei-Chou Lin, Sung-Tsang Hsieh, Kuo-Chuan Wang
OBJECTIVE Direct brain compression and secondary injury due to increased intracranial pressure are believed to be the pathognomic causes of a grave outcome in acute subdural hemorrhage (aSDH). However, ischemic damage from aSDH has received limited attention. The authors hypothesized that cerebral microcirculation is altered after aSDH. Direct visualization of microcirculation was conducted in a novel rat model. METHODS A craniectomy was performed on each of the 18 experimental adult Wistar rats, followed by superfusion of autologous arterial blood onto the cortical surface...
December 8, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29212538/a-pilot-investigation-of-audiovisual-processing-and-multisensory-integration-in-patients-with-inherited-retinal-dystrophies
#7
Mark H Myers, Alessandro Iannaccone, Gavin M Bidelman
BACKGROUND: In this study, we examined audiovisual (AV) processing in normal and visually impaired individuals who exhibit partial loss of vision due to inherited retinal dystrophies (IRDs). METHODS: Two groups were analyzed for this pilot study: Group 1 was composed of IRD participants: two with autosomal dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two with the related complex disorder, Bardet-Biedl syndrome (BBS); Group 2 was composed of 15 non-IRD participants (controls)...
December 7, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29208525/novel-familial-mutation-of-lrp5-causing-high-bone-mass-genetic-analysis-clinical-presentation-and-characterization-of-bone-matrix-mineralization
#8
K M Roetzer, G Uyanik, A Brehm, J Zwerina, S Zandieh, T Czech, P Roschger, B M Misof, K Klaushofer
The Wnt signalling pathway is a critical regulator of bone mass and quality. Several heterozygous mutations in the LRP5 gene, a Wnt co-receptor, causing high bone mass (LRP5-HBM) have been described to date. The pathogenic mechanism is thought to be a gain-of-function caused by impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone formation. We report the cases of two affected family members, a 53-year-old mother and her 23-year-old daughter, with high bone mass (T-scores mother: lumbar spine 11...
December 5, 2017: Bone
https://www.readbyqxmd.com/read/29198286/what-do-language-disorders-reveal-about-brain-language-relationships-from-classic-models-to-network-approaches
#9
Nina F Dronkers, Maria V Ivanova, Juliana V Baldo
Studies of language disorders have shaped our understanding of brain-language relationships over the last two centuries. This article provides a review of this research and how our thinking has changed over the years regarding how the brain processes language. In the 19th century, a series of famous case studies linked distinct speech and language functions to specific portions of the left hemisphere of the brain, regions that later came to be known as Broca's and Wernicke's areas. One hundred years later, the emergence of new brain imaging tools allowed for the visualization of brain injuries in vivo that ushered in a new era of brain-behavior research and greatly expanded our understanding of the neural processes of language...
October 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29197736/abnormal-cortical-neural-synchrony-during-working-memory-in-schizophrenia
#10
Seung Suk Kang, Angus W MacDonald, Matthew V Chafee, Chang-Hwan Im, Edward M Bernat, Nicholas D Davenport, Scott R Sponheim
OBJECTIVE: To better understand the origins of working memory (WM) impairment in schizophrenia we investigated cortical oscillatory activity in people with schizophrenia (PSZ) while they performed a WM task requiring encoding, maintenance, and retrieval/manipulation processes of spatial information. METHODS: We examined time-frequency synchronous energy of cortical source signals that were derived from magnetoencephalography (MEG) localized to cortical regions using WM-related hemodynamic responses and individualized structural head-models...
November 6, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29182610/bdnf-expression-in-cat-striate-cortex-is-regulated-by-binocular-pattern-deprivation
#11
Karolina Laskowska-Macios, Lutgarde Arckens, Małgorzata Kossut, Kalina Burnat
Deprivation of patterned visual information, as in early onset congenital cataract patients, results in a severe impairment in global motion perception. Previously we reported a delayed maturation of the peripheral visual field representation in primary visual area 17, based on a 2-D DIGE screen for protein expression changes and in situ hybridization for the activity reporter gene ZIF268. To corroborate these findings we here explore the binocular pattern deprivation (BD)-regulated expression of brain-derived neurotrophic factor (BDNF), a well-described neurotrophin precipitously regulated by early visual experience...
2017: Acta Neurobiologiae Experimentalis
https://www.readbyqxmd.com/read/29177103/postural-control-and-emotion-in-children-with-autism-spectrum-disorders
#12
Nathalie Gouleme, Isabelle Scheid, Hugo Peyre, Magali Seassau, Anna Maruani, Julia Clarke, Richard Delorme, Maria Pia Bucci
Autism Spectrum Disorders subjects (ASD) are well known to have deficits in social interaction. We recorded simultaneously eye movements and postural sway during exploration of emotional faces in children with ASD and typically developing children (TD). We analyzed several postural and ocular parameters. The results showed that all postural parameters were significantly greater in children with ASD; ASD made significantly fewer saccades and had shorter fixation time than TD, particularly in the eyes, and especially for unpleasant emotions...
2017: Translational Neuroscience
https://www.readbyqxmd.com/read/29175496/motion-processing-after-sight-restoration-no-competition-between-visual-recovery-and-auditory-compensation
#13
Davide Bottari, Ramesh Kekunnaya, Marlene Hense, Niko F Troje, Suddha Sourav, Brigitte Röder
The present study tested whether or not functional adaptations following congenital blindness are maintained in humans after sight-restoration and whether they interfere with visual recovery. In permanently congenital blind individuals both intramodal plasticity (e.g. changes in auditory cortex) as well as crossmodal plasticity (e.g. an activation of visual cortex by auditory stimuli) have been observed. Both phenomena were hypothesized to contribute to improved auditory functions. For example, it has been shown that early permanently blind individuals outperform sighted controls in auditory motion processing and that auditory motion stimuli elicit activity in typical visual motion areas...
November 23, 2017: NeuroImage
https://www.readbyqxmd.com/read/29170625/connectopathy-in-autism-spectrum-disorders-a-review-of-evidence-from-visual-evoked-potentials-and-diffusion-magnetic-resonance-imaging
#14
REVIEW
Takao Yamasaki, Toshihiko Maekawa, Takako Fujita, Shozo Tobimatsu
Individuals with autism spectrum disorder (ASD) show superior performance in processing fine details; however, they often exhibit impairments of gestalt face, global motion perception, and visual attention as well as core social deficits. Increasing evidence has suggested that social deficits in ASD arise from abnormal functional and structural connectivities between and within distributed cortical networks that are recruited during social information processing. Because the human visual system is characterized by a set of parallel, hierarchical, multistage network systems, we hypothesized that the altered connectivity of visual networks contributes to social cognition impairment in ASD...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29168583/distinct-patterns-of-amyloid-dependent-tau-accumulation-in-lewy-body-diseases
#15
Seung Ha Lee, Hanna Cho, Jae Yong Choi, Jae Hoon Lee, Young Hoon Ryu, Myung Sik Lee, Chul Hyoung Lyoo
BACKGROUND: In addition to Lewy body pathology, amyloid-β plaques and neurofibrillary tangles that are characteristic for Alzheimer's disease are also frequently found in Lewy body diseases. OBJECTIVES: The objective of this study was to investigate tau accumulation patterns in dementia with Lewy bodies and other Lewy body diseases using in vivo (18) F-AV-1451 PET. METHODS: The study included 12 Parkinson's disease (PD) patients with normal cognition, 22 PD patients with cognitive impairment, and 18 dementia with Lewy bodies patients...
November 23, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29164280/functional-brain-networks-involved-in-decision-making-under-certain-and-uncertain-conditions
#16
Danielle C Farrar, Asim Z Mian, Andrew E Budson, Mark B Moss, Ronald J Killiany
PURPOSE: The aim of this study was to describe imaging markers of decision-making under uncertain conditions in normal individuals, in order to provide baseline activity to compare to impaired decision-making in pathological states. METHODS: In this cross-sectional study, 19 healthy subjects ages 18-35 completed a novel decision-making card-matching task using a Phillips T3 Scanner and a 32-channel head coil. Functional data were collected in six functional runs...
November 21, 2017: Neuroradiology
https://www.readbyqxmd.com/read/29152735/6%C3%A2-hz-corneal-kindling-in-mice-triggers-neurobehavioral-comorbidities-accompanied-by-relevant-changes-in-c-fos-immunoreactivity-throughout-the-brain
#17
Giulia Albertini, Laura Walrave, Thomas Demuyser, Ann Massie, Dimitri De Bundel, Ilse Smolders
OBJECTIVE: Besides seizures, patients with epilepsy are affected by a variety of cognitive and psychiatric comorbidities that further impair their quality of life. The present study provides an in-depth characterization of the behavioral alterations induced by 6 Hz corneal kindling. Furthermore, we correlate these behavioral changes to alterations in c-Fos protein expression throughout the brain following kindling. METHODS: Adolescent male Naval Medical Research Institute (NMRI) mice were kindled via repetitive subconvulsive 6 Hz corneal stimulations until they reached the fully kindled state (defined as 10 consecutive generalized seizures)...
November 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/29146757/is-there-consensus-in-defining-childhood-cerebral-visual-impairment-a-systematic-review-of-terminology-and-definitions
#18
REVIEW
Hanna E A Sakki, Naomi J Dale, Jenefer Sargent, Teresa Perez-Roche, Richard Bowman
The childhood condition of visual difficulties caused by brain damage, commonly termed cortical or cerebral visual impairment (CVI), is well established but has no internationally accepted definition. Clarification of its core features is required to advance research and clinical practice. This systematic review aimed to identify the definitions of childhood CVI in the original scientific literature to describe and critically appraise a consensual definition of the condition. MEDLINE, EMBASE, PsychINFO, CINAHL and AMED databases were searched in January 2017...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29145186/the-kl%C3%A3-ver-bucy-syndrome
#19
Douglas J Lanska
In 1937, Heinrich Klüver and Paul Bucy described a dramatic behavioral syndrome in monkeys after bilateral temporal lobectomy. The full Klüver-Bucy syndrome (KBS) - hyperorality, placidity, hypermetamorphosis, dietary changes, altered sexual behavior, and visual agnosia - is evident within 3 weeks following operation. Some KBS features (i.e., hyperorality, placidity, hypermetamorphosis) persist indefinitely, whereas others gradually resolve over several years. Klüver and Bucy were initially unaware of an earlier report of KBS by Sanger Brown and Edward Schäfer in 1888...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29141793/information-processing-deficits-as-a-driving-force-for-memory-impairment-in-ms-a-cross-sectional-study-of-memory-functions-and-mri-in-early-and-late-stage-ms
#20
Wolfgang Köhler, Martin Fischer, Peter Bublak, Jürgen H Faiss, Frank Hoffmann, Annett Kunkel, Michael Sailer, Matthias Schwab, Erhard Stadler, Uwe K Zettl, Iris-Katharina Penner
BACKGROUND: Memory impairment (MI) is a common symptom of MS. Previous studies were conflicting in respect to the possible existence of early MI and the role of hippocampal atrophy. The objective of this study was to investigate MI and structural MRI correlates in homogenous groups of early and late MS, controlling for a potential information-processing speed (IPS) deficit, and utilizing multiple memory test paradigms. METHODS: 152 individually matched subjects were recruited: early MS (EMS, N = 25, disease duration 1...
November 2017: Multiple Sclerosis and related Disorders
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