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Neurologic impairment

S Micheletti, F Palestra, P Martelli, P Accorsi, J Galli, L Giordano, V Trebeschi, E Fazzi
BACKGROUND: Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments. METHOD: A total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11...
October 21, 2016: Italian Journal of Pediatrics
Laura de Diego-García, Mercedes Ramírez-Escudero, Álvaro Sebastián-Serrano, Juan Ignacio Diaz-Hernández, Jesús Pintor Just, José J Lucas, Miguel Díaz-Hernández
The Ubiquitin-Proteasome System (UPS) is essential for the regulation of the cellular proteostasis. Indeed, it has been postulated that an UPS dysregulation is the common mechanism that underlies several neurological disorders. Considering that extracellular nucleotides, through their selective P2Y2 receptor (P2Y2R), play a neuroprotective role in various neurological disorders that course with an UPS impairment, we wonder if this neuroprotective capacity resulted from their ability to modulate the UPS. Using a cellular model expressing two different UPS reporters, we found that the stimulation of P2Y2R by its selective agonist Up4U induced a significant reduction of UPS reporter levels...
October 18, 2016: Biochimica et Biophysica Acta
Salome Kornfeld, Martina Studer, Stephanie Winkelbeiner, Mária Regényi, Eugen Boltshauser, Maja Steinlin
AIM: Paediatric arterial ischaemic stroke can lead to reduced quality of life (QoL). It is important to identify predictors of QoL to support recovery. We examined long-term QoL after arterial ischaemic stroke concerning different variables. METHOD: Children registered in the Swiss Neuropediatric Stroke Registry and suffering from arterial ischaemic stroke between 2000 and 2008 were included. Two years post-stroke, assessments included intelligence quotient tests for cognitive impairment and modified Rankin Scale (mRS) for neurological impairment; 5 years post-stroke, the Kidscreen-27 was used for QoL, DSM-IV criteria screening was used for attention deficits, and the ABILHAND-Kids was used for manual motor skills...
October 21, 2016: Developmental Medicine and Child Neurology
Xiang He, Ling Jiang, Qi-Qin Dan, Qiang Lv, Yue Hu, Jia Liu, Ting-Hua Wang, Shu-Fen Wang
Collapsin response mediator protein 2 (CRMP2), an important protein involved in axonal growth and the maintenance of neuronal membrane integrity, has proved to be altered in nervous system diseases. This study was aimed to investigate the role of CRMP2 in bone marrow stromal cells (BMSCs) treating rats with cerebral ischemia. BMSCs were isolated from shaft of the femurs, tibiae, and humeri and was intra-carotid administrated immediately after middle cerebral artery occlusion (MCAO). Modified Neurological Severity Scores (mNSS) was conducted at 3, 7, 14 dpo and the electrophysiologic evaluation was evaluated at 14 dpo...
October 17, 2016: Behavioural Brain Research
Nathalie L Maitre, Olena Chorna, Domenico M Romeo, Andrea Guzzetta
BACKGROUND: High-risk infant follow-up programs provide early identification and referral for treatment of neurodevelopmental delays and impairments. In these programs, a standardized neurological examination is a critical component of evaluation for clinical and research purposes. METHODS: To address primary challenges of provider educational diversity and standardized documentation, we designed an approach to training and implementation of the Hammersmith Infant Neurological Examination with precourse materials, a workshop model, and adaptation of the electronic medical record...
September 21, 2016: Pediatric Neurology
Julie M Hall, Kaylena A Ehgoetz Martens, Courtney C Walton, Claire O'Callaghan, Peter E Keller, Simon J G Lewis, Ahmed A Moustafa
Parkinson's disease (PD) is a heterogeneous neurological disorder with a variety of motor and non-motor symptoms. The underlying mechanisms of these symptoms are not fully understood. An increased interest in structural connectivity analyses using diffusion tensor imaging (DTI) in PD has led to an expansion of our understanding of the impact of abnormalities in diffusivity on phenotype. This review outlines the contribution of these abnormalities to symptoms of PD including bradykinesia, tremor and non-tremor phenotypes, freezing of gait, cognitive impairment, mood, sleep disturbances, visual hallucinations and olfactory dysfunction...
September 28, 2016: Parkinsonism & related Disorders
Nicolas Sananès, Victor Gabriele, Anne Sophie Weingertner, Rodrigo Ruano, Magdalena Sanz-Cortes, Adrien Gaudineau, Bruno Langer, Israël Nisand, Chérif Youssef Akladios, Romain Favre
OBJECTIVE: The primary objective of our study was to evaluate the long-term neurodevelopment outcome after laser surgery for twin-twin transfusion syndrome (TTTS). The secondary objective was to identify perinatal prognostic factors associated with neurodevelopmental impairment. METHOD: This was a single-center cohort prospective study carried out in pregnancies complicated by TTTS and treated by laser. Neurodevleopmental assesment included the administration of Ages and Stages Questionnaires® (ASQ), for the infants between two and five years of age...
October 20, 2016: Prenatal Diagnosis
M Pistacchi, M Gioulis, F Sanson, S M Marsala
INTRODUCTION: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter. The main clinical manifestations are rigid or hyperkinetic syndrome, mood disorders and cognitive impairment. The correlation between neurological impairment and symmetrical basal ganglia calcification is not so frequent. Aim of the study was to report the results of neurological assessment of three sporadic cases of Fahr's disease highlighting a correlation between the clinical syndrome and neuroimaging...
2016: Folia Neuropathologica
Jou-Ku Chung, Eilish Brown, Bob Crooker, Kathleen J Palmieri, Thomas G McCauley
Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central nervous system bioavailability. Using intrathecal-lumbar administration, iduronate-2-sulfatase is delivered directly to the central nervous system. This study investigates the central nervous system biodistribution of intrathecal-lumbar administered iduronate-2-sulfatase in cynomolgus monkeys...
2016: PloS One
Matthias Boentert, Hélène Prigent, Katalin Várdi, Harrison N Jones, Uwe Mellies, Anita K Simonds, Stephan Wenninger, Emilia Barrot Cortés, Marco Confalonieri
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness...
October 17, 2016: International Journal of Molecular Sciences
Nina Lefeber, Eva Swinnen, Eric Kerckhofs
PURPOSE: The integration of sufficient cardiovascular stress into robot-assisted gait (RAG) training could combine the benefits of both RAG and aerobic training. The aim was to summarize literature data on the immediate effects of RAG compared to walking without robot-assistance on metabolic-, cardiorespiratory- and fatigue-related parameters. METHODS: PubMed and Web of Science were searched for eligible articles till February 2016. Means, SDs and significance values were extracted...
October 20, 2016: Disability and Rehabilitation. Assistive Technology
Özlem Taşoğlu, Engin Koyuncu, Rabia Daylak, Derya Yumuşak Karacif, Zerrin I Nce, Didem Yenigün, Neşe Özgirgin
OBJECTIVE: To define the demographic and clinical characteristics of persons with spinal cord injury, rehabilitated in a primary referral rehabilitation center in Turkey. DESIGN: Retrospective study. SETTING: Ankara Physical Medicine and Rehabilitation Training and Research Hospital, Ankara, Turkey Methods: Medical records of all patients with spinal cord injury (acute-subacute-chronic) at a single academic referral center over the course of one year were reviewed...
October 20, 2016: Journal of Spinal Cord Medicine
Zixin Yong, Po-Jang Hsieh, Dan Milea
Acquired auditory-visual synesthesia (AVS) is a rare neurological sign, in which specific auditory stimulation triggers visual experience. In this study, we used event-related fMRI to explore the brain regions correlated with acquired monocular sound-induced phosphenes, which occurred 2 months after unilateral visual loss due to an ischemic optic neuropathy. During the fMRI session, 1-s pure tones at various pitches were presented to the patient, who was asked to report occurrence of sound-induced phosphenes by pressing one of the two buttons (yes/no)...
October 19, 2016: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
Shekhar Dethe, M Deepak, Amit Agarwal
BACKGROUND: Bacopa monnieri (L.) Wettst., commonly known as Brahmi, is renowned in Indian traditional system for its potent memory enhancing activity, which has been validated by various scientific studies. OBJECTIVE: The objective of this study was to understand the molecular mechanism of memory enhancing activity of BacoMind(®) (BM), a standardized extract of B. monnieri. MATERIALS AND METHODS: BM was screened in vitro in a panel of cell-free and receptor-transfected cell assays...
July 2016: Pharmacognosy Magazine
Xin Wang, Jing Wang, Haikang Zhao, Nan Li, Shunnan Ge, Lei Chen, Jiaming Li, Jiangpeng Jing, Mingming Su, Zhaohui Zheng, Jinan Zhang, Guodong Gao, Xuelian Wang
BACKGROUND: Symptomatic intracranial hemorrhage (ICH) may lead to permanent neurological disability of patients and has impeded the extensive clinical application of deep brain stimulation (DBS). The present study was conducted to discuss the incidence, prevention, and treatment of symptomatic ICH after DBS surgery. METHODS: From January 2009 to December 2014, 396 patients underwent DBS with a total of 691 implanted leads. In all, 10 patients had symptomatic ICH...
October 20, 2016: British Journal of Neurosurgery
Ignacio Jusué-Torres, Lee H Jeon, Eric W Sankey, Jennifer Lu, Tito Vivas-Buitrago, Joshua A Crawford, Mikhail V Pletnikov, Jiadi Xu, Ari Blitz, Daniel A Herzka, Barbara Crain, Alicia Hulbert, Hugo Guerrero-Cazares, Oscar Gonzalez-Perez, James P McAllister, Alfredo Quiñones-Hinojosa, Daniele Rigamonti
BACKGROUND: The pathogenesis of adult chronic hydrocephalus is not fully understood, and the temporal relationship between development of the radiological changes and neurological deterioration is unknown. OBJECTIVE: To clarify the progression of radiological-histological changes and subsequent clinical manifestations of adult chronic hydrocephalus. METHODS: Kaolin was injected bilaterally into the subarachnoid space overlying the cranial convexities in 20 adult rats...
November 2016: Neurosurgery
Sylvie Chokron, Gordon N Dutton
Cerebral visual impairment (CVI) has become the primary cause of visual impairment and blindness in children in industrialized countries. Its prevalence has increased sharply, due to increased survival rates of children who sustain severe neurological conditions during the perinatal period. Improved diagnosis has probably contributed to this increase. As in adults, the nature and severity of CVI in children relate to the cause, location and extent of damage to the brain. In the present paper, we define CVI and how this impacts on visual function...
2016: Frontiers in Psychology
Edouard Mazerand, Marc Le Renard, Sophie Hue, Jean-Michel Lemee, Evelyne Klinger, Philippe Menei
BACKGROUND: Brain mapping during awake craniotomy is a well-known technique to preserve neurological functions, especially the language. It is still challenging to map the optic radiations due to the difficulty to test the visual field intraoperatively. OBJECTIVE: To assess the visual field during awake craniotomy, we developed the Functions' Explorer based on a Virtual Reality Headset (FEX-VRH). METHODS: The impaired visual field of ten patients was tested with the gold standard exam (an automated perimetry), and the FEX-VRH...
October 15, 2016: World Neurosurgery
Valerie E Kelly, Sara J Morgan, Dagmar Amtmann, Rana Salem, Brian J Hafner
PURPOSE: This study tested the hypothesis that greater perceived cognitive concerns are associated with worse mobility in a cohort of prosthesis users with lower limb loss (LLL). METHOD: We performed a secondary analysis of cross-sectional self-report data from a volunteer sample of people with LLL due to dysvascular and non-dysvacular causes. Perceived cognitive difficulties were assessed using the Quality of Life in Neurological Disorders Applied Cognition - General Concerns (Neuro-QoL ACGC)...
October 19, 2016: Disability and Rehabilitation
Natarajan Suganthy, Kasi Pandima Devi, Seyed Fazel Nabavi, Nady Braidy, Seyed Mohammad Nabavi
Quercetin, a ubiquitous flavonoid that is widely distributed in plants is classified as a cognitive enhancer in traditional and oriental medicine. The protective effects of quercetin for the treatment of neurodegenerative disorders and cerebrovascular diseases have been demonstrated in both in vitro and in vivo studies. The free radical scavenging activity of quercetin has been well-documented, wherein quercetin has been observed to exhibit protective effects against oxidative stress mediated neuronal damage by modulating the expression of NRF-2 dependent antioxidant responsive elements, and attenuation of neuroinflammation by suppressing NF-κB signal transducer and activator of transcription-1 (STAT-1)...
October 15, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
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