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https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#1
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28440805/cell-transplantation-therapy-for-spinal-cord-injury
#2
REVIEW
Peggy Assinck, Greg J Duncan, Brett J Hilton, Jason R Plemel, Wolfram Tetzlaff
Spinal cord injury can lead to severe motor, sensory and autonomic dysfunction. Currently, there is no effective treatment for the injured spinal cord. The transplantation of Schwann cells, neural stem cells or progenitor cells, olfactory ensheathing cells, oligodendrocyte precursor cells and mesenchymal stem cells has been investigated as potential therapies for spinal cord injury. However, little is known about the mechanisms through which these individual cell types promote repair and functional improvements...
April 25, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28440687/the-consequence-of-spatial-visual-processing-dysfunction-caused-by-traumatic-brain-injury-tbi
#3
William V Padula, Jose E Capo-Aponte, William V Padula, Eric L Singman, Jonathan Jenness
OBJECTIVE: A bi-modal visual processing model is supported by research to affect dysfunction following a traumatic brain injury (TBI). TBI causes dysfunction of visual processing affecting binocularity, spatial orientation, posture and balance. Research demonstrates that prescription of prisms influence the plasticity between spatial visual processing and motor-sensory systems improving visual processing and reducing symptoms following a TBI. RATIONALE: The rationale demonstrates that visual processing underlies the functional aspects of binocularity, balance and posture...
April 25, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28440058/atypical-inter-hemispheric-communication-correlates-with-altered-motor-inhibition-during-learning-of-a-new-bimanual-coordination-pattern-in-developmental-coordination-disorder
#4
Mélody Blais, David Amarantini, Jean-Michel Albaret, Yves Chaix, Jessica Tallet
Impairment of motor learning skills in developmental coordination disorder (DCD) has been reported in several studies. Some hypotheses on neural mechanisms of motor learning deficits in DCD have emerged but, to date, brain-imaging investigations are scarce. The aim of the present study is to assess possible changes in communication between brain areas during practice of a new bimanual coordination task in teenagers with DCD (n = 10) compared to matched controls (n = 10). Accuracy, stability and number of mirror movements were computed as behavioural variables...
April 25, 2017: Developmental Science
https://www.readbyqxmd.com/read/28439919/motor-polyradiculopathy-during-pembrolizumab-treatment-of-metastatic-melanoma
#5
Maria Sepúlveda, Eugenia Martinez-Hernandez, Lydia Gaba, Ivan Victoria, Nuria Sola-Valls, Neus Falgàs, Jordi Casanova-Molla, Francesc Graus
INTRODUCTION: Pembrolizumab, a monoclonal antibody directed against the immune checkpoint PD-1 (programmed cell death-1 receptor), has improved survival in patients with advanced melanoma. Neuromuscular immune-mediated side effects have been rarely reported. METHODS: We describe a 44-year-old man with metastatic melanoma who presented with progressive muscle weakness after 23 doses of pembrolizumab. RESULTS: The patient developed asymmetric, proximal muscle weakness and atrophy in all four limbs...
April 25, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28439323/caudal-regression-syndrome-a-case-series-of-a-rare-congenital-anomaly
#6
Yogesh Kumar, Nishant Gupta, Kusum Hooda, Pranav Sharma, Salil Sharma, Puneet Kochar, Daichi Hayashi
BACKGROUND: Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28439219/the-utility-of-csf-for-the-diagnosis-of-primary-and-secondary-monoamine-neurotransmitter-deficiencies
#7
A B Burlina, A Celato, G Polo, C Edini, A P Burlina
Biogenic amine defects constitute a complex and expanding group of neurotransmitter disorders affecting cognitive, motor and autonomic system development, mostly in the pediatric age. In recent years different enzymatic defects have been identified impairing the tetrahydrobiopterin cofactor pathway and/or biogenic amine synthesis, catabolism and transport, with subsequent new disease entities described. The lumbar puncture, with subsequent withdrawal of cerebrospinal fluid (CSF), remains a key step in the diagnostic procedure...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28438991/differentiation-of-v2a-interneurons-from-human-pluripotent-stem-cells
#8
Jessica C Butts, Dylan A McCreedy, Jorge Alexis Martinez-Vargas, Frederico N Mendoza-Camacho, Tracy A Hookway, Casey A Gifford, Praveen Taneja, Linda Noble-Haeusslein, Todd C McDevitt
The spinal cord consists of multiple neuronal cell types that are critical to motor control and arise from distinct progenitor domains in the developing neural tube. Excitatory V2a interneurons in particular are an integral component of central pattern generators that control respiration and locomotion; however, the lack of a robust source of human V2a interneurons limits the ability to molecularly profile these cells and examine their therapeutic potential to treat spinal cord injury (SCI). Here, we report the directed differentiation of CHX10(+) V2a interneurons from human pluripotent stem cells (hPSCs)...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28438578/global-cerebral-ischemia-in-rats-leads-to-amnesiadue-to-selective-neuronal-death-followed-by-astroglial-scar-formationin-the-ca1-layer
#9
Kevin Sadelli, Jean-Claude Stamegna, Stéphane D Girard, Nathalie Baril, Guy Escoffier, Maïna Brus, Antoine D Véron, Michel Khrestchatisky, François S Roman
Global Cerebral Ischemia (GCI) occurs following cardiac arrest or neonatal asphyxia and leads to harmful neurological consequences. In most cases, patients who survive cardiac arrest develop severe cognitive and motor impairments. This study focused on learning and memory deficits associated with brain neuroanatomical reorganization that appears after GCI. The four-vessel occlusion (4VO) model was performed to produce a transient GCI. Hippocampal lesions in ischemic rats were visualized using anatomical Magnetic Resonance Imaging (aMRI)...
April 21, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28438514/components-of-standing-postural-control-evaluated-in-pediatric-balance-measures-a-scoping-review
#10
REVIEW
Kathryn M Sibley, Marla K Beauchamp, Karen Van Ooteghem, Marie Paterson, Kristy Dm Wittmeier
OBJECTIVE: To identify measures of standing balance validated in pediatric populations and determine the components of postural control captured in each tool. DATA SOURCES: Electronic searches of Medline, Embase, and CINAHL databases using key word combinations of postural balance/ equilibrium, psychometrics/ reproducibility of results/ predictive value of tests, child/ pediatrics; grey literature; and hand searches. STUDY SELECTION: Inclusion criteria were measures with a stated objective to assess balance, pediatric (<=18 years) populations, at least one psychometric evaluation, one standing task, standardized protocol and evaluation criteria, and published in English...
April 21, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28438223/extrastriatal-changes-in-patients-with-late-onset-glutaric-aciduria-type-i-highlight-the-risk-of-long-term-neurotoxicity
#11
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Without neonatal initiation of treatment, 80-90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment...
April 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28437885/sesquiterpenes-evaluation-on-schistosoma-mansoni-survival-excretory-system-and-membrane-integrity
#12
Rosimeire Nunes de Oliveira, Karina Rodrigues Dos Santos, Tiago Manuel Fernandes Mendes, Vera Lúcia Garcia, Adriana Silva Santos Oliveira, Veronica de Lourdes Sierpe Jeraldo, Silmara Marques Allegretti
The main challenge in schistosomiasis control has been the emergence of drug-resistant parasites. Since the 1970's, praziquantel (PZQ) is the single drug for treatment. This fact highlights the importance to research news chemotherapeutic agents. In the last years, S. mansoni excretory system and tegument have been major targets for drug development. The purpose of this study was to evaluate the effect of sesquiterpenes, alpha-humulene and trans-caryophyllene on S. mansoni survival, excretory system and membrane integrity, after in vitro exposure...
April 19, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28437527/ocular-motor-nerve-development-in-the-presence-and-absence-of-extraocular-muscle
#13
Suzanne M Michalak, Mary C Whitman, Jong G Park, Max A Tischfield, Elaine H Nguyen, Elizabeth C Engle
Purpose: To spatially and temporally define ocular motor nerve development in the presence and absence of extraocular muscles (EOMs). Methods: Myf5cre mice, which in the homozygous state lack EOMs, were crossed to an IslMN:GFP reporter line to fluorescently label motor neuron cell bodies and axons. Embryonic day (E) 11.5 to E15.5 wild-type and Myf5cre/cre:IslMN:GFP whole mount embryos and dissected orbits were imaged by confocal microscopy to visualize the developing oculomotor, trochlear, and abducens nerves in the presence and absence of EOMs...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28437426/representational-models-a-common-framework-for-understanding-encoding-pattern-component-and-representational-similarity-analysis
#14
Jörn Diedrichsen, Nikolaus Kriegeskorte
Representational models specify how activity patterns in populations of neurons (or, more generally, in multivariate brain-activity measurements) relate to sensory stimuli, motor responses, or cognitive processes. In an experimental context, representational models can be defined as hypotheses about the distribution of activity profiles across experimental conditions. Currently, three different methods are being used to test such hypotheses: encoding analysis, pattern component modeling (PCM), and representational similarity analysis (RSA)...
April 24, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28437326/favorable-outcomes-of-preterm-infants-with-parenteral-nutrition-associated-liver-disease-treated-with-intravenous-fish-oil-based-lipid-emulsion
#15
Michael Sorrell, Alvaro Moreira, Kay Green, Rachel Jacob, Robin Tragus, Laura Keller, Amy Quinn, Donald McCurnin, Alice Gong, Abeer El Sakka, Naveen Mittal, Cynthia Blanco
OBJECTIVES: The aim of the study was to determine the acute and long-term outcomes of preterm infants treated with an intravenous fish oil-based lipid emulsion (FishLE) for parenteral nutrition-associated liver disease (PNALD). METHODS: Preterm infants 14 days to 24 months of age with anatomic short gut or severe intestinal dysmotility, serum direct bilirubin ≥4 mg/dL, and requiring >60% calories from parenteral nutrition were eligible. Enrolled infants received 1 g · kg · day of FishLE until resolution of direct hyperbilirubinemia or return of enteral nutrition...
May 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28436759/the-roles-of-micrornas-in-spinal-cord-injury
#16
Zhongju Shi, Hengxing Zhou, Lu Lu, Xueying Li, Zheng Fu, Jun Liu, Yi Kang, Zhijian Wei, Bin Pan, Lu Liu, Xiaohong Kong, Shiqing Feng
BACKGROUND AND PURPOSE: Spinal cord injury (SCI) involves serious damage that can result in abnormal or absent motor and sensory functions and a disruption of autonomic function, and a series of pathological reactions occur after the injury. As a type of small non-coding RNA, microRNAs (miRNAs) have been verified to inhibit gene expression via posttranscriptional regulation. This review mainly focuses on recent advances regarding the roles of miRNAs following SCI. METHODS: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were adopted...
April 24, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28436395/phase-iib-study-of-intranasal-glutathione-in-parkinson-s-disease
#17
Laurie K Mischley, Richard C Lau, Eric G Shankland, Timothy K Wilbur, Jeannie M Padowski
BACKGROUND: Reduced glutathione (GSH) is an endogenously synthesized tripeptide depleted early in the course of Parkinson's disease (PD) and GSH augmentation has been proposed as a therapeutic strategy in PD. OBJECTIVE: This Phase IIb study was designed to evaluate whether a Phase III study of intranasal GSH, (in)GSH, for symptomatic relief is warranted and to determine the most appropriate trial design for a disease-modification study. METHODS: This was a double-blind, placebo-controlled trial of 45 individuals with Hoehn & Yahr Stage 1-3 PD...
April 20, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28436394/sarcomere-dysfunction-in-nemaline-myopathy
#18
Josine M de Winter, Coen A C Ottenheijm
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function. As the respiratory muscles are involved as well, severely affected patients are ventilator-dependent. The mechanisms underlying muscle weakness in NM are currently poorly understood...
April 19, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28435999/neonatal-propofol-anesthesia-changes-expression-of-synaptic-plasticity-proteins-and-increases-stereotypic-and-anxyolitic-behavior-in-adult-rats
#19
Desanka Milanovic, Vesna Pesic, Natasa Loncarevic-Vasiljkovic, Vladimir Avramovic, Vesna Tesic, Vesna Jevtovic-Todorovic, Selma Kanazir, Sabera Ruzdijic
Propofol is a general anesthetic commonly used in pediatric clinical practices. Experimental findings demonstrate that anesthetics induce widespread apoptosis and cognitive decline in a developing brain. Although anesthesia-mediated neurotoxicity is the most prominent during intense period of synaptogenesis, the effects of an early anesthesia exposure on the synapses are not well understood. The aim of this study was to examine the effects of neonatal propofol anesthesia on the expression of key proteins that participate in synaptogenesis and synaptic plasticity and to evaluate long-term neurobehavioral abnormalities in the mature adult brain...
April 24, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28435973/acclimatization-to-middle-altitude-hypoxia-protects-against-developmental-and-cognitive-deficits-caused-by-acute-fetal-hypoxia-in-mice
#20
Hui-Lang Liu, Yong-Mei Sun, Chuan-Yu Li, Hai-Chen Niu, Min Su, Jing-Kun Wang
Acute fetal hypoxia (AFH) can elicit postnatal motor deficits and cognitive impairments. To test whether lifelong acclimatization to middle altitude (MA) hypoxia has protective effects on the impairments caused by AFH, ICR mice bred at 1 900 m altitude for 6-7 generations were evaluated under AFH. On gestation day 9 (GD 9), 13 (GD 13) or 17 (GD 17), pregnant mice received a single exposure to acute hypoxia (7% O2, 6 h). Physiological and neurodevelopmental behaviors, motor function (open field), spatial learning and memory (Morris water maze), and anxiety level (elevated plus maze) were examined in the offspring from neonate to adulthood...
April 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
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