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Neurology

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41 papers 0 to 25 followers
https://www.readbyqxmd.com/read/27720246/extra-central-nervous-system-target-for-assessment-and-treatment-in-refractory-anti-n-methyl-d-aspartate-receptor-encephalitis
#1
David W Nauen
Anti-N-methyl-d-aspartate-type glutamate receptor autoimmune encephalitis can arise in the setting of ovarian teratoma and often responds to resection. When it occurs in the absence of tumor, failure to respond to treatment may be more likely, and affected patients often require intensive care. To further understand the mechanisms and potential management, we present findings from an autopsy conducted on a young woman who died of refractory autoimmune encephalitis of this type. Rituximab was administered 70 days before death, and both 37 and 14 days before death, CD19(+) lymphocytes were only 0...
September 22, 2016: Journal of Critical Care
https://www.readbyqxmd.com/read/25469247/reversible-posterior-leukoencephalopathy-syndrome-secondary-to-systemic-onset-juvenile-idiopathic-arthritis-a-case-report-and-review-of-the-literature
#2
Pingping Zhang, Xiaofeng Li, Yating Li, Jing Wang, Huasong Zeng, Xiaofeng Zeng
Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinical syndrome based on changes in clinical imaging, and it has been reported to mainly occur in adults. However, it has been recently discovered that RPLS is also prevalent in infant patients, particularly in those using glucocorticoids, immunosuppressant medications and cytotoxic drugs. The current study presents a 5-year-old male with a previous diagnosis of systemic-onset juvenile idiopathic arthritis (SoJIA) and macrophage-activation syndrome who developed posterior reversible encephalopathy syndrome during treatment with glucocorticoids, disease-modifying antirheumatic drugs and biological agent (etanercept) therapy...
January 2015: Biomedical Reports
https://www.readbyqxmd.com/read/27831913/acute-necrotising-encephalopathy-of-childhood-an-uncommon-cause-of-childhood-encephalopathy-with-recognisable-clinical-and-radiological-features-and-genetic-predisposition
#3
Nicholas Schindler, Gautam Ambegaonkar
No abstract text is available yet for this article.
October 8, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27821570/clinical-reasoning-a-30-year-old-man-with-progressive-weakness-and-atrophy
#4
Colin Quinn, Steven A Moore, Tanya M Bardakjian, Chafic Karam
No abstract text is available yet for this article.
November 8, 2016: Neurology
https://www.readbyqxmd.com/read/27765754/fever-in-a-child-with-cerebrospinal-fluid-access-device-or-shunt-a-pragmatic-approach-to-management
#5
REVIEW
Betsy Cleave, Maria Cartmill, Shiu Shing Soo, Harish Vyas
Children with shunts commonly present with fever, and often the focus of infection will be unrelated to their shunt. However, as shunt infections may present with few or even no specific symptoms, evaluation of a child with a shunt presenting with fever should be careful and comprehensive to ensure shunt infections are not missed. Treatment of an infected shunt involves removal of the shunt followed by a long course of antibiotics; missing or partially treating shunt infections can result in significant morbidity and potentially even mortality...
October 20, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27572869/pediatric-multiple-sclerosis-conventional-first-line-treatment-and-general-management
#6
Angelo Ghezzi, Maria Pia Amato, Naila Makhani, Teri Shreiner, Jutta Gärtner, Silvia Tenembaum
Many disease-modifying therapies are currently available for adults with relapsing-remitting multiple sclerosis (MS) but none of them has been tested in pediatric MS in randomized placebo-controlled trials. At present, as suggested by observational studies and experts' guidelines, interferon-β and glatiramer acetate continue to be the standard first-line treatments for pediatric MS. Observational studies and some controlled unblinded trials have shown a positive effect of these meditations in reducing relapse rate and delaying disease progression, with an acceptable safety profile...
August 30, 2016: Neurology
https://www.readbyqxmd.com/read/27803144/pediatric-hydrocephalus-current-state-of-diagnosis-and-treatment
#7
Zachary Wright, Thomas W Larrew, Ramin Eskandari
No abstract text is available yet for this article.
November 2016: Pediatrics in Review
https://www.readbyqxmd.com/read/27803143/stroke-in-neonates-and-children
#8
Miya E Bernson-Leung, Michael J Rivkin
No abstract text is available yet for this article.
November 2016: Pediatrics in Review
https://www.readbyqxmd.com/read/27862206/malformations-of-cortical-development
#9
REVIEW
Rahul S Desikan, A James Barkovich
Malformations of cortical development (MCDs) compose a diverse range of disorders that are common causes of neurodevelopmental delay and epilepsy. With improved imaging and genetic methodologies, the underlying molecular and pathobiological characteristics of several MCDs have been recently elucidated. In this review, we discuss genetic and molecular alterations that disrupt normal cortical development, with emphasis on recent discoveries, and provide detailed radiological features of the most common and important MCDs...
November 11, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27837102/treatment-dilemmas-in-guillain-barr%C3%A3-syndrome
#10
REVIEW
Christine Verboon, Pieter A van Doorn, Bart C Jacobs
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical course and outcome. Intravenous immunoglobulin (IVIg) and plasma exchange are proven effective treatments, but the efficacy has been demonstrated mainly on motor improvement in adults with a typical and severe form of GBS. In clinical practice, treatment dilemmas may occur in patients with a relatively mild presentation, variant forms of GBS, or when the onset of weakness was more than 2 weeks ago. Other therapeutic dilemmas may arise in patients who do not improve or even progress after initial treatment...
November 11, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27823842/cerebral-sinovenous-thrombosis-in-the-asphyxiated-cooled-infants-a-prospective-observational-study
#11
Maurizio Radicioni, Vittorio Bini, Pietro Chiarini, Ambra Fantauzzi, Francesca Leone, Raffaella Scattoni, Pier Giorgio Camerini
BACKGROUND: Cerebral sinovenous thrombosis is unusual in the asphyxiated cooled infants, but reliable data regarding the incidence of this comorbidity are lacking. We assessed the incidence of sinovenous thrombosis in a population of asphyxiated cooled infants by performing routine brain magnetic resonance venography. METHODS: All asphyxiated infants who underwent therapeutic cooling at our institution completed brain magnetic resonance venography after rewarming...
October 6, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27873310/neonatal-critical-illness-and-development-white-matter-and-hippocampus-alterations-in-school-age-neonatal-extracorporeal-membrane-oxygenation-survivors
#12
Raisa M Schiller, Gerbrich E van den Bosch, Ryan L Muetzel, Marion Smits, Jeroen Dudink, Dick Tibboel, Hanneke Ijsselstijn, Tonya White
AIM: To examine the neurobiology of long-term neuropsychological deficits after neonatal extracorporeal membrane oxygenation (ECMO). METHOD: This cross-sectional study assessed white matter integrity and hippocampal volume of ECMO survivors (8-15y) and healthy children (8-17y) using diffusion tensor imaging (DTI) and structural magnetic resonance imaging (MRI) respectively. Neuropsychological outcome was evaluated in ECMO survivors. Included clinical predictors of white matter integrity: age start ECMO, ECMO duration, highest oxygenation index before ECMO, highest mean airway pressure, and mechanical ventilation duration...
November 21, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27871029/effects-of-cerebrolysin-on-functional-recovery-in-patients-with-severe-disability-after-traumatic-brain-injury-a-historical-cohort-study
#13
Hosseinali Khalili, Amin Niakan, Fariborz Ghaffarpasand
OBJECTIVE: To determine the effects of cerebrolysin on functional recovery in patients with severe disability after traumatic brain injury (TBI). METHODS: This was a retrospective cohort study being performed during a 2-year period in a level I trauma center in Southern Iran including all the adult patients (>16years) with severe disability (GOS of 2 and 3) 1-month after trauma. We excluded those with posttraumatic seizures and those with meningitis or current infections...
November 15, 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27862730/disease-course-after-clinically-isolated-syndrome-in-children-versus-adults-a-prospective-cohort-study
#14
R M van der Vuurst de Vries, E D van Pelt, J Y Mescheriakova, Y Y M Wong, I A Ketelslegers, T A M Siepman, C E Catsman, R F Neuteboom, R Q Hintzen
BACKGROUND AND PURPOSE: Clinically isolated syndrome (CIS) is a first demyelinating event of the central nervous system and can be a single event. After CIS, a chronic disease course with ongoing inflammation and relapses might occur, resulting in a diagnosis of multiple sclerosis (MS). As yet, there has been no prospective exploration of whether children and adults with CIS have the same disease course. METHODS: Patients with CIS, whose age ranged from 1 to 50 years, were prospectively followed...
November 9, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27839652/diagnosis-and-clinical-features-of-common-optic-neuropathies
#15
REVIEW
Valérie Biousse, Nancy J Newman
Disorders of the optic nerves (optic neuropathies) are some of the most common causes of visual loss, and can present in isolation or with associated neurological or systemic symptoms and signs. Several optic neuropathies-especially inflammatory optic neuropathies-are associated with neurological disorders and thus are often diagnosed and treated by neurologists. The mechanisms underlying optic neuropathies are diverse and typically manifest with decreased visual acuity, altered colour vision, and abnormal visual field in the affected eye...
December 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27853989/proposed-recommendations-for-diagnosing-and-managing-individuals-with-glutaric-aciduria-type-i-second-revision
#16
REVIEW
Nikolas Boy, Chris Mühlhausen, Esther M Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R Greenberg, Inga Harting, Georg F Hoffmann, Daniela Karall, David M Koeller, Michael B Krawinkel, Jürgen G Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines)...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27765519/the-new-approach-to-classification-of-focal-epilepsies-epileptic-discharge-and-disconnectivity-in-relation-to-cognition
#17
Vera Dinkelacker, Sophie Dupont, Séverine Samson
The new classification of epilepsy stratifies the disease into an acute level, based on seizures, and an overarching chronic level of epileptic syndromes (Berg et al., 2010). In this new approach, seizures are considered either to originate and evolve in unilateral networks or to rapidly encompass both hemispheres. This concept extends the former vision of focal and generalized epilepsies to a genuine pathology of underlying networks. These key aspects of the new classification can be linked to the concept of cognitive curtailing in focal epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27777022/clinical-phenotype-and-genetic-associations-in-autosomal-dominant-familial-alzheimer-s-disease-a-case-series
#18
Natalie S Ryan, Jennifer M Nicholas, Philip S J Weston, Yuying Liang, Tammaryn Lashley, Rita Guerreiro, Gary Adamson, Janna Kenny, Jon Beck, Lucia Chavez-Gutierrez, Bart de Strooper, Tamas Revesz, Janice Holton, Simon Mead, Martin N Rossor, Nick C Fox
BACKGROUND: The causes of phenotypic heterogeneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood. We aimed to characterise clinical phenotypes and genetic associations with APP and PSEN1 mutations in symptomatic autosomal dominant familial Alzheimer's disease (ADAD). METHODS: We retrospectively analysed genotypic and phenotypic data (age at symptom onset, initial cognitive or behavioural symptoms, and presence of myoclonus, seizures, pyramidal signs, extrapyramidal signs, and cerebellar signs) from all individuals with ADAD due to APP or PSEN1 mutations seen at the Dementia Research Centre in London, UK...
October 21, 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27826120/mitochondrial-oxidative-phosphorylation-disorders-in-children-phenotypic-genotypic-and-biochemical-correlations-in-85-patients-from-south-india
#19
Kothari Sonam, Parayil Sankaran Bindu, M M Srinivas Bharath, Periyasamy Govindaraj, Narayanappa Gayathri, Hanumanthapura R Arvinda, Shwetha Chiplunkar, Madhu Nagappa, Sanjib Sinha, Nahid Akhtar Khan, Vandana Nunia, Arumugam Paramasivam, Kumarasamy Thangaraj, Arun B Taly
Mitochondrial oxidative phosphorylation (OXPHOS) disorders accounts for a variety of neuromuscular disorders in children. In this study mitochondrial respiratory chain enzymes were assayed in muscle tissue in a large cohort of children with varied neuromuscular presentations from June 2011 to December 2013. The biochemical enzyme deficiencies were correlated with the phenotypes, magnetic resonance imaging, histopathology and genetic findings to reach a final diagnosis. There were 85 children (mean age: 6.9±4...
November 5, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27789117/acute-ataxia-in-children-a-review-of-the-differential-diagnosis-and-evaluation-in-the-emergency-department
#20
REVIEW
Mauro Caffarelli, Amir A Kimia, Alcy R Torres
Acute ataxia in a pediatric patient poses a diagnostic dilemma for any physician. While the most common etiologies are benign, occasional individuals require urgent intervention. Children with stroke, toxic ingestion, infection, and neuro-inflammatory disorders frequently exhibit ataxia as an essential-if not the only-presenting feature. The available retrospective research utilize inconsistent definitions of acute ataxia, precluding the ability to pool data from these studies. No prospective data exist that report on patients presenting to the emergency department with ataxia...
December 2016: Pediatric Neurology
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