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Neurology Collection

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By Ayat Al-Safar Senior Registerer General Paediatrics
Pinelopi Dragoumi, Finbar O'Callaghan, Dimitrios I Zafeiriou
Tuberous sclerosis complex is a dominantly inherited genetic disorder of striking clinical variability. It is caused by mutations in either TSC1 or TSC2 gene, which regulate cell growth and proliferation by inhibition of mTORC1 signaling. TS is characterized by the development of benign tumors in many tissues and organs and its neurological manifestations include epilepsy, autism, cognitive and behavioral dysfunction, and giant cell tumors. With mechanism-based mTOR inhibitors therapy now available for many of its manifestations, early diagnosis of TSC is very important in order to offer appropriate care, long-term surveillance and parental counseling...
September 12, 2018: European Journal of Paediatric Neurology: EJPN
Elliott H Sherr, David J Michelson, Michael I Shevell, John B Moeschler, Andrea L Gropman, Stephen Ashwal
Genetic testing for intellectual disability, global developmental delay and other neurodevelopmental disorders has advanced considerably in the last five to ten years and can be an important diagnostic tool for clinicians. This article provides a clinical and ethical framework for understanding these advances, future directions and the current limitations of these approaches.
August 2013: Annals of Neurology
Ruth Grychtol, Elaine Y Chan
Patients with cerebral palsy (CP), especially those at the severe end of the spectrum (Gross Motor Function Classification System levels IV-V equivalent), frequently suffer from sleep disturbance and sleep-disordered breathing (SDB). Non-invasive ventilation (NIV) is increasingly used in this patient group, albeit with little published evidence of its effectiveness in CP. This article aims to review the current evidence in the use of NIV in children with CP, highlighting areas of uncertainties, as well as the balance of potential risks, challenges and benefits...
December 2018: Archives of Disease in Childhood
An N Massaro, Yvonne W Wu, Theo K Bammler, Bryan Comstock, Amit Mathur, Robert C McKinstry, Taeun Chang, Dennis E Mayock, Sarah B Mulkey, Krisa Van Meurs, Sandra Juul
OBJECTIVES: To evaluate plasma brain specific proteins and cytokines as biomarkers of brain injury in newborns with hypoxic-ischemic encephalopathy (HIE) and, secondarily, to assess the effect of erythropoietin (Epo) treatment on the relationship between biomarkers and outcomes. STUDY DESIGN: A study of candidate brain injury biomarkers was conducted in the context of a phase II multicenter randomized trial evaluating Epo for neuroprotection in HIE. Plasma was collected at baseline (<24 hours) and on day 5...
March 2018: Journal of Pediatrics
S D Rosenberg, B Périn, V Michel, R Debs, V Navarro, P Convers
Electroencephalogram (EEG) recording in the laboratory lasts at least 20 minutes and uses 19 active electrodes. It includes rest periods, stimulation procedures, a 3-mn hyperventilation period and intermittent photic stimulation (IPS). Recorded at the bedside, the EEG uses at least eight electrodes; the stimulation procedures, duration of the EEG and need to repeat the examination depend on the indication. Simultaneous video recording is recommended. The EEG report describes the basic rhythm, its reactivity and pathological activities, whether epileptic or not, and their organization...
March 2015: Neurophysiologie Clinique, Clinical Neurophysiology
Dane E Anderson, Aniruddh D Patel
AIM: The neonatal intensive care unit (NICU) provides life-saving medical care for an increasing number of newborn infants each year. NICU care, while lifesaving, does have attendant consequences which can include repeated activation of the stress response and reduced maternal interaction, with possible negative long-term impacts on brain development. Here we present a neuroscientific framework for considering the impact of music on neurodevelopment in the NICU of infants born preterm and evaluate current literature on the use of music with this population to determine what is most reliably known of the physiological effects of music interventions...
March 2018: Developmental Medicine and Child Neurology
Gerwyn Morris, Michael Berk, André F Carvalho, Michael Maes, Adam J Walker, Basant K Puri
Ferroptosis is a unique form of programmed death, characterised by cytosolic accumulation of iron, lipid hydroperoxides and their metabolites, and effected by the fatal peroxidation of polyunsaturated fatty acids in the plasma membrane. It is a major driver of cell death in neurodegenerative neurological diseases. Moreover, cascades underpinning ferroptosis could be active drivers of neuropathology in major psychiatric disorders. Oxidative and nitrosative stress can adversely affect mechanisms and proteins governing cellular iron homeostasis, such as the iron regulatory protein/iron response element system, and can ultimately be a source of abnormally high levels of iron and a source of lethal levels of lipid membrane peroxidation...
April 2, 2018: Behavioural Brain Research
Iori Ohmori, Keiichiro Hayashi, Haijiao Wang, Mamoru Ouchida, Naohiro Fujita, Takushi Inoue, Hiroyuki Michiue, Teiichi Nishiki, Hideki Matsui
The aim of this study was to assess the anticonvulsant effect of carbon dioxide (CO2) on Scn1a mutation-related febrile seizures. We examined physiological changes in the blood gas levels after the induction of hyperthermia-induced seizures (HISs), which were associated with the Scn1a missense mutation. We determined the efficacy of inhalation of 5% or 10% CO2 to treat HISs. HISs were evoked in Scn1a mutant and wild-type (WT) rats by hot water baths. To determine the anticonvulsant effect of CO2 inhalation, rats were placed in a chamber filled with air or mixed gas containing 5% CO2 or 10% CO2 for 3 min, immediately after the induction of HISs...
July 2013: Epilepsy Research
Adelar Pedro Franz, Gul Unsel Bolat, Hilmi Bolat, Alicia Matijasevich, Iná Silva Santos, Rita C Silveira, Renato Soibelmann Procianoy, Luis Augusto Rohde, Carlos Renato Moreira-Maia
CONTEXT: Although very preterm (VP), extremely preterm (EP), very low birth weight (VLBW), and extremely low birth weight (ELBW) newborns seem to have a higher risk of later attention-deficit/hyperactivity disorder (ADHD), the magnitude of the risk is not well-defined. OBJECTIVE: To systematically review and meta-analyze the risk of VP/VLBW and EP/ELBW individuals to develop a ADHD categorical diagnosis or dimensional symptomatology compared with controls with normal weight and/or birth age...
January 2018: Pediatrics
David L Penn, John H Chi, Mark R Proctor
No abstract text is available yet for this article.
January 1, 2018: Neurosurgery
Nitish Chourasia, Michael W Watkins, Jeremy E Lankford, Joseph S Kass, Ankur Kamdar
BACKGROUND: Anti-N-Methyl-D-Aspartate receptor (NMDAR) encephalitis is an autoimmune disorder that often affects women of childbearing age, and maternal-fetal transfer of anti-NMDAR antibodies during pregnancy has been documented in both symptomatic and asymptomatic women. The effects of these antibodies on the fetus, however, are incompletely understood. PATIENT DESCRIPTION: This term infant exhibited depressed respiratory effort, poor feeding, and abnormal movements after birth...
February 2018: Pediatric Neurology
Ann Marie Flannery, Ann-Christine Duhaime, Mandeep S Tamber, Joanna Kemp
OBJECT: This systematic review was undertaken to answer the following question: Do technical adjuvants such as ventricular endoscopic placement, computer-assisted electromagnetic guidance, or ultrasound guidance improve ventricular shunt function and survival? METHODS: The US National Library of Medicine PubMed/MEDLINE database and the Cochrane Database of Systematic Reviews were queried using MeSH headings and key words specifically chosen to identify published articles detailing the use of cerebrospinal fluid shunts for the treatment of pediatric hydrocephalus...
November 2014: Journal of Neurosurgery. Pediatrics
Zachary S Smalley, Garrett T Venable, Stephanie Einhaus, Paul Klimo
Background: Low-pressure hydrocephalus (LPH) is a rare phenomenon characterized by a clinical picture consistent with elevated intracranial pressure (ICP) and ventricular enlargement, but also a well-functioning shunt and low or negative ICP. Objective: To report our experience in evaluating this challenging problem. Methods: Patients with LPH were identified from several sources, including institutional procedural databases and personal case logs...
March 1, 2017: Neurosurgery
Aris Garro, Lise E Nigrovic
No abstract text is available yet for this article.
May 2018: Annals of Emergency Medicine
Achille Marino, Sona Narula, Melissa A Lerman
No abstract text is available yet for this article.
May 26, 2017: Pediatric Neurology
Giuseppe d'Orsi, Vincenzo Demaio, Mauro G Minervini
Myoclonic jerks and myoclonic status (MS) are sometimes difficult to distinguish clinically from movement disorders such as hand stereotypies, tremor, and dystonia in Rett syndrome. We describe a rare and complete video-polygraphic study of a girl with Rett syndrome (MECP2 mutation) and MS misdiagnosed as movement disorders and disclosed after video-polygraphic recordings. Corresponding to closely recurring activity of diffuse spike and polyspikes-wave-type paroxysms, rhythmic and, especially, arrhythmic myoclonias, usually asymmetrical and asynchronous, involving mainly right muscle deltoid and rarely followed by an inhibitory phenomenon, appeared...
June 2009: Epilepsy & Behavior: E&B
Matthew C Walker
Status epilepticus (SE) is the maximal expression of epilepsy with a high morbidity and mortality. It occurs due to the failure of mechanisms that terminate seizures. Both human and animal data indicate that the longer a seizure lasts, the less likely it is to stop. Recent evidence suggests that there is a critical transition from an ictal to a post-ictal state, associated with a transition from a spatio-temporally desynchronized state to a highly synchronized state, respectively. As SE continues, it becomes progressively resistant to drugs, in particular benzodiazepines due partly to NMDA receptor-dependent internalization of GABA(A) receptors...
February 22, 2018: Neuroscience Letters
Anurag Saxena, Julian R Sampson
Epilepsy affects 75% to 90% of people with tuberous sclerosis, a multisystem genetic disorder. Although seizures can occur for the first time at any age, onset in infancy or childhood is usual. Around 30% of patients present with infantile spasms that often respond well to treatment with vigabatrin. Later seizures may occur as specific patterns, such as in Lennox-Gastaut syndrome, or with combinations of seizures including focal and multifocal seizures, and drop attacks. Most patients have two or more seizure types...
June 2015: Seminars in Neurology
Nico Melzer, Tobias Ruck, Peter Fuhr, Ralf Gold, Reinhard Hohlfeld, Alexander Marx, Arthur Melms, Björn Tackenberg, Berthold Schalke, Christiane Schneider-Gold, Fritz Zimprich, Sven G Meuth, Heinz Wiendl
Myasthenia gravis (MG) is an autoimmune antibody-mediated disorder of neuromuscular synaptic transmission. The clinical hallmark of MG consists of fluctuating fatigability and weakness affecting ocular, bulbar and (proximal) limb skeletal muscle groups. MG may either occur as an autoimmune disease with distinct immunogenetic characteristics or as a paraneoplastic syndrome associated with tumors of the thymus. Impairment of central thymic and peripheral self-tolerance mechanisms in both cases is thought to favor an autoimmune CD4(+) T cell-mediated B cell activation and synthesis of pathogenic high-affinity autoantibodies of either the IgG1 and 3 or IgG4 subclass...
August 2016: Journal of Neurology
Yasuhiro Kuroda
This update comprises six important topics under neurocritical care that require reevaluation. For post-cardiac arrest brain injury, the evaluation of the injury and its corresponding therapy, including temperature modulation, is required. Analgosedation for target temperature management is an essential strategy to prevent shivering and minimizes endogenous stress induced by catecholamine surges. For severe traumatic brain injury, the diverse effects of therapeutic hypothermia depend on the complicated pathophysiology of the condition...
2016: Journal of Intensive Care
2016-09-25 06:43:31
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