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Neurology Collection

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18 papers 0 to 25 followers
By Ayat Al-Safar Senior Registerer General Paediatrics
https://www.readbyqxmd.com/read/23375560/inhalation-of-10-carbon-dioxide-rapidly-terminates-scn1a-mutation-related-hyperthermia-induced-seizures
#1
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
https://www.readbyqxmd.com/read/29255083/attention-deficit-hyperactivity-disorder-and-very-preterm-very-low-birth-weight-a-meta-analysis
#2
REVIEW
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
https://www.readbyqxmd.com/read/29244137/severe-traumatic-brain-injury
#3
David L Penn, John H Chi, Mark R Proctor
No abstract text is available yet for this article.
January 1, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29310908/an-infant-born-to-a-mother-with-anti-n-methyl-d-aspartate-receptor-encephalitis
#4
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...
November 22, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/25988779/pediatric-hydrocephalus-systematic-literature-review-and-evidence-based-guidelines-part-3-endoscopic-computer-assisted-electromagnetic-navigation-and-ultrasonography-as-technical-adjuvants-for-shunt-placement
#5
REVIEW
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
https://www.readbyqxmd.com/read/28362957/low-pressure-hydrocephalus-in-children-a-case-series-and-review-of-the-literature
#6
REVIEW
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
https://www.readbyqxmd.com/read/29110887/managing-peripheral-facial-palsy
#7
REVIEW
Aris Garro, Lise E Nigrovic
No abstract text is available yet for this article.
October 27, 2017: Annals of Emergency Medicine
https://www.readbyqxmd.com/read/28625466/first-pediatric-patient-with-neuromyelitis-optica-and-sj%C3%A3-gren%C3%A2-syndrome-successfully-treated-with-tocilizumab
#8
LETTER
Achille Marino, Sona Narula, Melissa A Lerman
No abstract text is available yet for this article.
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/19336260/myoclonic-status-misdiagnosed-as-movement-disorders-in-rett-syndrome-a-video-polygraphic-study
#9
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
https://www.readbyqxmd.com/read/28011391/pathophysiology-of-status-epilepticus
#10
REVIEW
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...
December 20, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/26060906/epilepsy-in-tuberous-sclerosis-phenotypes-mechanisms-and-treatments
#11
REVIEW
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
https://www.readbyqxmd.com/read/26886206/clinical-features-pathogenesis-and-treatment-of-myasthenia-gravis-a-supplement-to-the-guidelines-of-the-german-neurological-society
#12
REVIEW
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
https://www.readbyqxmd.com/read/27239312/neurocritical-care-update
#13
REVIEW
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
https://www.readbyqxmd.com/read/27524897/current-and-emerging-treatment-strategies-for-duchenne-muscular-dystrophy
#14
REVIEW
Jean K Mah
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. It is caused by mutations of the DMD gene, leading to progressive muscle weakness, loss of independent ambulation by early teens, and premature death due to cardiorespiratory complications. The diagnosis can usually be made after careful review of the history and examination of affected boys presenting with developmental delay, proximal weakness, and elevated serum creatine kinase, plus confirmation by muscle biopsy or genetic testing...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/26380568/treatment-of-generalized-convulsive-status-epilepticus-in-pediatric-patients
#15
REVIEW
Elizabeth L Alford, James W Wheless, Stephanie J Phelps
Generalized convulsive status epilepticus (GCSE) is one of the most common neurologic emergencies and can be associated with significant morbidity and mortality if not treated promptly and aggressively. Management of GCSE is staged and generally involves the use of life support measures, identification and management of underlying causes, and rapid initiation of anticonvulsants. The purpose of this article is to review and evaluate published reports regarding the treatment of impending, established, refractory, and super-refractory GCSE in pediatric patients...
July 2015: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/25890865/high-resolution-diffusion-tensor-imaging-and-tractography-in-joubert-syndrome-beyond-molar-tooth-sign
#16
Charlie Chia-Tsong Hsu, Gigi Nga Chi Kwan, Sandeep Bhuta
BACKGROUND: We undertook diffusion tensor imaging analysis of brainstem fiber tracts in two Joubert syndrome patients. METHODS: Two Joubert syndrome patients underwent magnetic resonance imaging brain examination with diffusion tensor imaging. Imaging findings were compared with five age- and sex-matched control subjects with approval from the institutional ethic committee. The medical history and clinical examination findings in both patients were documented. RESULTS: Diffusion tensor imaging analysis of the first patient demonstrated absence of the dorsal pontocerebellar tract and thinning of the middle cerebral peduncle...
July 2015: Pediatric Neurology
https://www.readbyqxmd.com/read/24456932/approach-to-the-diagnosis-of-congenital-myopathies
#17
Kathryn N North, Ching H Wang, Nigel Clarke, Heinz Jungbluth, Mariz Vainzof, James J Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H Beggs, Caroline Sewry, Nigel G Laing, Carsten G Bönnemann
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes...
February 2014: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/25907848/teaching-reading-to-children-with-neurofibromatosis-type-1-a-clinical-trial-with-random-assignment-to-different-approaches
#18
RANDOMIZED CONTROLLED TRIAL
Laura A Barquero, Angela M Sefcik, Laurie E Cutting, Sheryl L Rimrodt
AIM: Neurofibromatosis type 1 (NF1) is a genetic disorder with a cognitive profile that includes visual-spatial perception deficits and a high incidence of reading disability. There is a paucity of information about how this cognitively complex population responds to mainstream reading interventions. The clinical trial goals were to determine whether children and adolescents with NF1 and reading deficits (NF+RD) benefit from mainstream remedial reading programs and whether responsiveness varies with differences in program-related visual-spatial demands...
December 2015: Developmental Medicine and Child Neurology
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