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Functional neurology

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https://www.readbyqxmd.com/read/28549024/the-epidemiology-of-hospital-death-following-pediatric-severe-sepsis-when-why-and-how-children-with-sepsis-die
#1
Scott L Weiss, Fran Balamuth, Josey Hensley, Julie C Fitzgerald, Jenny Bush, Vinay M Nadkarni, Neal J Thomas, Mark Hall, Jennifer Muszynski
OBJECTIVE: The epidemiology of in-hospital death after pediatric sepsis has not been well characterized. We investigated the timing, cause, mode, and attribution of death in children with severe sepsis, hypothesizing that refractory shock leading to early death is rare in the current era. DESIGN: Retrospective observational study. SETTING: Emergency departments and ICUs at two academic children's hospitals. PATIENTS: Seventy-nine patients less than 18 years old treated for severe sepsis/septic shock in 2012-2013 who died prior to hospital discharge...
May 25, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28548558/the-role-of-genetic-testing-in-epilepsy-diagnosis-and-management
#2
Yvonne G Weber, Saskia Biskup, Katherine L Helbig, Sarah von Spiczak, Holger Lerche
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing...
May 26, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28548544/neuropsychological-impairment-in-hashimoto-s-encephalopathy-a-case-report-and-literature-review
#3
Liorah Sabbah-Talasazan, Irene Piryatinsky
Hashimoto's encephalopathy (HE) is a rare neurological syndrome characterized by the presence of positive serum antithyroid antibodies, altered mental status, and clinical response to glucocorticoid therapy. Although HE has been documented in the literature from a medical standpoint, reports on the neuropsychological presentation of this syndrome are scarce. This article presents a literature review of cognitive deficits reported in HE cases. In addition, we describe the case of a 76-year-old Russian speaking woman diagnosed with HE in May 2012...
May 26, 2017: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/28548479/insular-gliomas-a-surgical-reappraisal-based-on-a-systematic-review-of-the-literature
#4
Domenico Murrone, Rodolfo Maduri, Afif Afif, Domenico Chirchiglia, Isabelle Pelissou-Guyotat, Jacques Guyotat, Francesco Signorelli
INTRODUCTION: Insular gliomas are heterogeneous lesions whose management presents multiple challenges for their tendency to affect young patients in good neurological and cognitive conditions, their deep anatomic location and proximity with critical functional and vascular structures. The appropriate management of insular gliomas requires a multidisciplinary evidence-centred teamwork grounded on the best anatomic, neurophysiological and oncological knowledge. The present study provides a reappraisal of the management of insular gliomas based on a systematic review of the literature with the aim of guiding clinicians in the management of such tumors...
May 25, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28547531/neonatal-hyperoxia-perturbs-neuronal-development-in-the-cerebellum
#5
Till Scheuer, Yuliya Sharkovska, Victor Tarabykin, Katharina Marggraf, Vivien Brockmöller, Christoph Bührer, Stefanie Endesfelder, Thomas Schmitz
Impaired postnatal brain development of preterm infants often results in neurological deficits. Besides pathologies of the forebrain, maldeveolopment of the cerebellum is increasingly recognized to contribute to psychomotor impairments of many former preterm infants. However, causes are poorly defined. We used a hyperoxia model to define neonatal damage in cerebellar granule cell precursors (GCPs) and in Purkinje cells (PCs) known to be essential for interaction with GCPs during development. We exposed newborn rats to 24 h 80% O2 from age P6 to P7 to identify postnatal and long-term damage in cerebellar GCPs at age P7 after hyperoxia and also after recovery in room air thereafter until P11 and P30...
May 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28547320/real-time-noninvasive-monitoring-of-intracranial-fluid-shifts-during-dialysis-using-volumetric-integral-phase-shift-spectroscopy-vips-a-proof-of-concept-study
#6
Chethan P Venkatasubba Rao, Eric M Bershad, Eusebia Calvillo, Nelson Maldonado, Rahul Damani, Sreedhar Mandayam, Jose I Suarez
BACKGROUND: Cerebral edema, which is associated with increased intracranial fluid, is often a complication of many acute neurological conditions. There is currently no accepted method for real-time monitoring of intracranial fluid volume at the bedside. We evaluated a novel noninvasive technique called "Volumetric Integral Phase-shift Spectroscopy (VIPS)" for detecting intracranial fluid shifts during hemodialysis. METHODS: Subjects receiving scheduled hemodialysis for end-stage renal disease and without a history of major neurological conditions were enrolled...
May 25, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28546325/reciprocal-interaction-of-24-hour-blood-pressure-variability-and-systolic-blood-pressure-on-outcome-in-stroke-thrombolysis
#7
Lars Kellert, Christian Hametner, Niaz Ahmed, Geraldine Rauch, Mary J MacLeod, Francesco Perini, Kennedy R Lees, Peter A Ringleb
BACKGROUND AND PURPOSE: Significance and management of blood pressure (BP) changes in acute stroke care are unclear. Here, we aimed to investigate the impact of 24-hour BP variability (BPV) on outcome in patients with acute ischemic stroke treated with intravenous thrombolysis. METHODS: From the Safe Implementation of Treatment in Stroke International Stroke Thrombolysis registry, 28 976 patients with documented pre-treatment systolic BP at 2 and 24 hours were analyzed...
May 25, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28546310/heterozygous-gnal-mice-are-a-novel-animal-model-to-study-dystonia-pathophysiology
#8
Assunta Pelosi, Fabien Menardy, Daniela Popa, Jean-Antoine Girault, Denis Hervé
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions. Its pathophysiological mechanisms are still poorly understood. Dominant mutations of the GNAL gene are a cause of isolated dystonia (DYT25) in patients. Some mutations result in a complete loss of function of the encoded protein, Gαolf, an adenylyl-cyclase-stimulatory G protein highly enriched in striatal projection neurons, in which it mediates the actions of dopamine and adenosine. We used male and female heterozygous Gnal knockout mice (Gnal+/-) to study how GNAL haplodeficiency is implicated in dystonia...
May 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28545954/prognostic-role-of-copeptin-after-traumatic-brain-injury-a-systematic-review-and-meta-analysis-of-observational-studies
#9
Kyu-Sun Choi, Youngsuk Cho, Bo-Hyoung Jang, Wonhee Kim, Chiwon Ahn, Tae Ho Lim, Hyoung-Joong Yi
PURPOSE: Copeptin, the C-terminal portion of provasopressin, has emerged as a novel prognostic marker in neurocritical care, such as in traumatic brain injury (TBI). The aim of this study was to quantitatively assess the prognostic significance of initial plasma copeptin levels in the neurological outcome and mortality after traumatic brain injury. MATERIALS AND METHODS: Six relevant studies with data from 552 patients were included in this meta-analysis. RESULTS: The plasma copeptin levels were found to be significantly higher in patients who died than in the survivors (standardized mean difference [SMD], 1...
April 19, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28545786/the-associations-between-insomnia-and-health-related-quality-of-life-in-rehabilitation-units-at-1month-after-stroke
#10
Won-Hyoung Kim, Han-Young Jung, Ha-Yoon Choi, Chan-Hyuk Park, Eun-Suk Kim, Sook-Joung Lee, Sung-Hwa Ko, Soo-Yeon Kim, Kyung-Lim Joa
OBJECTIVE: The principal objective of this study was to investigate the relationship between insomnia and health-related quality of life (HRQoL) during the early stage of stroke rehabilitation. METHODS: The subjects were 214 first-time stroke patients admitted to a rehabilitation unit at one of three Korean hospitals. Within 7days after stroke, functions were evaluated using; the Berg Balance Scale, the Modified Barthel Index, the Mini Mental State Examination, the Frontal Assessment Battery, Screening Tests for Aphasia and Neurologic-Communication Disorders, and the National Institute of Health Stroke Scale...
May 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28545252/cpg-and-non-cpg-methylation-in-epigenetic-gene-regulation-and-brain-function
#11
REVIEW
Hyun Sik Jang, Woo Jung Shin, Jeong Eon Lee, Jeong Tae Do
DNA methylation is a major epigenetic mark with important roles in genetic regulation. Methylated cytosines are found primarily at CpG dinucleotides, but are also found at non-CpG sites (CpA, CpT, and CpC). The general functions of CpG and non-CpG methylation include gene silencing or activation depending on the methylated regions. CpG and non-CpG methylation are found throughout the whole genome, including repetitive sequences, enhancers, promoters, and gene bodies. Interestingly, however, non-CpG methylation is restricted to specific cell types, such as pluripotent stem cells, oocytes, neurons, and glial cells...
May 23, 2017: Genes
https://www.readbyqxmd.com/read/28545069/behavioral-alterations-are-associated-with-vitamin-b12-deficiency-in-the-transcobalamin-receptor-cd320-ko-mouse
#12
Kaveri Arora, Jeffrey M Sequeira, Alejandro I Hernández, Juan M Alarcon, Edward V Quadros
Vitamin B12 (cobalamin) deficiency is prevalent worldwide and causes megaloblastic anemia and neurologic deficits. While the anemia can be treated, the neurologic deficits can become refractive to treatment as the disease progresses. Therefore, timely intervention is critical for a favorable outcome. Moreover, the metabolic basis for the neuro-pathologic changes and the role of cobalamin deficiency in the pathology still remains unexplained. Using a transcobalamin receptor / CD320 knockout mouse that lacks the receptor for cellular uptake of transcobalamin bound cobalamin, we aimed to determine whether cobalamin deficiency in the central nervous system produced functional neurologic deficits in the mouse that would parallel those observed in humans...
2017: PloS One
https://www.readbyqxmd.com/read/28544614/proteomic-profiling-of-the-hypothalamus-in-two-mouse-models-of-narcolepsy
#13
Sausan Azzam, Daniela Schlatzer, David Nethery, Dania Saleh, Xiaolin Li, Afaf Akladious, Mark R Chance, Kingman P Strohl
Narcolepsy is a disabling neurological disorder of sleepiness linked to the loss of neurons producing orexin neuropeptides in the hypothalamus. Two well characterized phenotypic mouse models of narcolepsy, loss-of-function (orexin-knockout) and progressive loss of orexin (orexin/ataxin-3) exist. The open question is whether the proteomics signatures of the hypothalamus would be different between the two models. To address this gap, we utilized a label-free proteomics approach and conducted a hypothalamic proteome analysis by comparing each disease model to that of wild type...
May 22, 2017: Proteomics
https://www.readbyqxmd.com/read/28543982/the-rna-binding-protein-caper-is-required-for-sensory-neuron-development-in-drosophila-melanogaster
#14
Eugenia C Olesnicky, Jeremy M Bono, Laura Bell, Logan T Schachtner, Meghan C Lybecker
BACKGROUND: Alternative splicing mediated by RNA-binding proteins (RBPs) is emerging as a fundamental mechanism for the regulation of gene expression. Alternative splicing has been shown to be a widespread phenomenon that facilitates the diversification of gene products in a tissue specific manner. Although defects in alternative splicing are rooted in many neurological disorders, only a small fraction of splicing factors have been investigated in detail. RESULTS: We find that the splicing factor Caper is required for the development of multiple different mechanosensory neuron subtypes at multiple life stages in Drosophila melanogaster...
May 23, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28543935/neurodegeneration-in-ataxia-telangiectasia-multiple-roles-of-atm-kinase-in-cellular-homeostasis
#15
REVIEW
Kay Rui Choy, Dianne J Watters
Ataxia-Telangiectasia (A-T) is characterized by neuronal degeneration, cancer, diabetes, immune deficiency and increased sensitivity to ionizing radiation. A-T is attributed to the deficiency of the protein kinase coded by the ATM (Ataxia-Telangiectasia Mutated) gene. ATM is a sensor of DNA Double Strand Breaks and signals to cell cycle checkpoints and the DNA repair machinery. ATM phosphorylates numerous substrates and activates many cell-signalling pathways. There has been considerable debate about whether a defective DNA damage response is causative of the neurological aspects of the disease...
May 22, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28543642/bidirectional-superior-cavopulmonary-anastomosis-with-or-without-cardiopulmonary-bypass-a-randomized-study
#16
Sachin Talwar, Anish Gupta, Ashima Nehra, Neeti Makhija, Poonam Malhotra Kapoor, Vishnubhatla Sreenivas, Shiv Kumar Choudhary, Balram Airan
OBJECTIVES: This study aims to compare the bidirectional superior cavopulmonary anastomosis (BDG) with or without cardiopulmonary bypass (CPB). METHODS: 100 patients undergoing BDG were randomized into two groups: Off-CPB or on-CPB groups. All patients underwent near-infrared spectrophotometry (NIRS) and bispectral index (BIS) monitoring and pre- and postoperative serum 100 beta protein measurements (Sβ100) and neuro-cognitive evaluation. Postoperative intensive care unit (ICU) parameters were also studied...
May 21, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28542837/phenotype-and-natural-history-of-variant-late-infantile-ceroid-lipofuscinosis-5
#17
Alessandro Simonati, Ruth E Williams, Nardo Nardocci, Minna Laine, Roberta Battini, Angela Schulz, Barbara Garavaglia, Francesca Moro, Francesco Pezzini, Filippo M Santorelli
AIM: To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. METHOD: Records of 15 children (nine males, six females) were obtained from the data sets of the DEM-CHILD International NCL Registry. Disease progression was measured by rating six functional domains at different time points along the disease course. All patients underwent mutation analysis of the CLN5 gene and ultrastructural investigations of peripheral tissues...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28542743/neuroimaging-cardiovascular-physiology-and-functional-outcomes-in-infants-with-congenital-heart-disease
#18
REVIEW
Nathalie H P Claessens, Christopher J Kelly, Serena J Counsell, Manon J N L Benders
This review integrates data on brain dysmaturation and acquired brain injury using fetal and neonatal magnetic resonance imaging (MRI), including the contribution of cardiovascular physiology to differences in brain development, and the relationship between brain abnormalities and subsequent neurological impairments in infants with congenital heart disease (CHD). The antenatal and neonatal period are critical for optimal brain development; the developing brain is particularly vulnerable to haemodynamic disturbances during this time...
May 19, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28541902/complex-neuromuscular-changes-post-stroke-revealed-by-clustering-index-analysis-of-surface-electromyogram
#19
Xu Zhang, Zhongqing Wei, Xiaoting Ren, Xiaoping Gao, Xiang Chen, Ping Zhou
The objective of this study was to characterize complex neuromuscular changes induced by a hemisphere stroke through a novel clustering index (CI) analysis of surface electromyogram (EMG). The CI analysis was performed using surface EMG signals collected bilaterally from the thenar muscles of 17 subjects with stroke and 12 age-matched healthy controls during their performance of varying levels of isometric muscle contractions. Compared with the neurologically intact or contralateral muscles, mixed CI patterns were observed in the paretic muscles...
May 24, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28541374/motor-function-and-incident-dementia-a-systematic-review-and-meta-analysis
#20
Jacqueline Kathleen Kueper, Mark Speechley, Navena Rebecca Lingum, Manuel Montero-Odasso
Background: cognitive and mobility decline are interrelated processes, whereby mobility decline coincides or precedes the onset of cognitive decline. Objective: to assess whether there is an association between performance on motor function tests and incident dementia. Methods: electronic database, grey literature and hand searching identified studies testing for associations between baseline motor function and incident dementia in older adults...
May 25, 2017: Age and Ageing
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