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Pediatric Neurology

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https://www.readbyqxmd.com/read/29429782/long-term-treatment-of-niemann-pick-type-c1-disease-with-intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin
#1
Elizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, Amy Winston, Robin Stoner, Lisa LaGorio, Katherine Friedmann, Mariana Hernandez, Daniel S Ory, Forbes D Porter, Joan A O'Keefe
BACKGROUND: Intrathecal 2-hydoxypropyl-β-cyclodextrin has been found to mobilize cholesterol, extend life, reduce cerebellar pathology, and delay onset of ataxia in the mouse and cat models of Niemann-Pick disease, type C1, a clinically variable progressive and ultimately fatal neurodegenerative storage disorder characterized by endolysosomal accumulation of unesterified cholesterol. OBJECTIVE: In this study, the long-term effects of intrathecal 2-hydoxypropyl-β-cyclodextrin treatment for 2...
January 8, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29429779/ataxia-with-hypodontia-a-unique-leukodystrophy
#2
Amanda D Currie, Swati A Karmarkar
No abstract text is available yet for this article.
December 27, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29449072/merrf-classification-implications-for-diagnosis-and-clinical-trials
#3
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub, John M Shoffner
BACKGROUND: Given the etiologic heterogeneity of disease classification using clinical phenomenology, we employed contemporary criteria to classify variants associated with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome and to assess the strength of evidence of gene-disease associations. Standardized approaches are used to clarify the definition of MERRF, which is essential for patient diagnosis, patient classification, and clinical trial design. METHODS: Systematic literature and database search with application of standardized assessment of gene-disease relationships using modified Smith criteria and of variants reported to be associated with MERRF using modified Yarham criteria...
December 13, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29429781/high-prevalence-and-incidence-of-diabetic-peripheral-neuropathy-in-children-and-adolescents-with-type-1-diabetes-mellitus-results-from-a-five-year-prospective-cohort-study
#4
Isabella Walter-Höliner, Daniela Seick Barbarini, Jürg Lütschg, Anya Blassnig-Ezeh, Ulrike Zanier, Christoph H Saely, Burkhard Simma
BACKGROUND: In this prospective cohort study, we investigated the prevalence of diabetic peripheral neuropathy at baseline and after five years of follow-up in children and adolescents with type 1 diabetes mellitus using both measurements of nerve conduction velocity and clinical neurological examination. METHODS: A total of 38 patients who underwent insulin pump or intensive insulin therapy were included. The subjects averaged 12.6 ± 2.4 years of age and their diabetes duration averaged 5...
December 13, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29428154/neonatal-infection-in-children-with-cerebral-palsy-a-registry-based-cohort-study
#5
Anne-Sophie Smilga, Jarred Garfinkle, Pamela Ng, John Andersen, David Buckley, Darcy Fehlings, Adam Kirton, Ellen Wood, Esias van Rensburg, Michael Shevell, Maryam Oskoui
BACKGROUND: The goal of this study was to explore the association between neonatal infection and outcomes in children with cerebral palsy. METHODS: We conducted a retrospective cohort study using the Canadian CP Registry. Neonatal infection was defined as meeting one of the following criteria: (1) septicemia, (2) septic shock, or (3) administration of antibiotics for ≥10 days. Phenotypic profiles of children with cerebral palsy with and without an antecedent neonatal infection were compared...
December 13, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29429778/hydrocephalus-in-pediatric-traumatic-brain-injury-national-incidence-risk-factors-and-outcomes-in-124-444-hospitalized-patients
#6
Kavelin Rumalla, Vijay Letchuman, Kyle A Smith, Paul M Arnold
BACKGROUND: Hydrocephalus is a life-threatening sequela of traumatic brain injury (TBI) with poorly defined epidemiology in children. Here, we report the national incidence, risk factors, and outcomes associated with post-traumatic hydrocephalus (PTH). METHODS: The Kids Inpatient Database (2003, 2006, 2009, 2012) was queried using the International Classification of Diseases, Ninth Edition, Clinical Modification (ICD-9-CM) codes to identify all patients (age 0 to 20) with TBI (850...
December 11, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29398165/an-infectious-masquerader
#7
Natalia Vélez-Tirado, Juan Esteban Cote-Orozco
No abstract text is available yet for this article.
December 11, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29373156/initial-observations-of-salivary-brain-derived-neurotrophic-factor-levels-in-rett-syndrome
#8
Breanne Byiers, Chantel Barney, Michael Ehrhardt, Angela Panoskaltsis-Mortari, Timothy Feyma, Arthur Beisang, Frank J Symons
No abstract text is available yet for this article.
December 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29290520/a-life-at-the-interface-the-2017-hower-award-lecture
#9
Nina F Schor
No abstract text is available yet for this article.
December 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29398166/encephalitis-and-thalamic-injury-from-neuroinvasive-west-nile-virus-in-children-on-treatment-for-acute-lymphoblastic-leukemia
#10
Lauge Farnaes, Deborah Schiff, Anita K McElroy, Nicole G Coufal, John R Crawford, Christopher Cannavino
No abstract text is available yet for this article.
December 2, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29373157/new-onset-status-epilepticus-in-pediatric-patients-causes-characteristics-and-outcomes
#11
Saba Jafarpour, Ryan M Hodgeman, Carolina De Marchi Capeletto, Mateus Torres Avelar de Lima, Kush Kapur, Robert C Tasker, Tobias Loddenkemper
BACKGROUND: Many pediatric patients presenting with status epilepticus have no history of seizures. METHODS: We retrospectively analyzed the clinical characteristics of patients aged one month to 21 years who presented during six consecutive years with convulsive status epilepticus and without a history of seizures. New-onset refractory status epilepticus was defined as status epilepticus refractory to two lines of treatment, without an identified cause in the first 48 hours...
December 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29307566/post-varicella-arterial-ischemic-stroke-in-denmark-2010-to-2016
#12
Ida Glode Helmuth, Kåre Mølbak, Peter Vilhelm Uldall, Anja Poulsen
BACKGROUND: Varicella, most often a benign disease of childhood, is associated with an increased risk of arterial ischemic stroke in children. The aim of the present study was to estimate the incidence of post-varicella arterial ischemic stroke in the Danish child population and describe clinical characteristics of children admitted with post-varicella arterial ischemic stroke. METHODS: In the Danish National Patient Register, we identified inpatients 28 days to 16 years of age with a discharge diagnosis of stroke or cerebrovascular disease from 2010 to 2016...
December 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29429780/complete-atrioventricular-heart-block-from-an-epilepsy-treatment
#13
Kelly M Brinkley, Mark D Ayers, Deborah K Sokol
No abstract text is available yet for this article.
November 28, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29395725/recurrent-focal-seizures-and-transient-hemiparesis-think-about-alternating-hemiplegia-of-childhood
#14
LETTER
Indar Kumar Sharawat, Lokesh Saini
No abstract text is available yet for this article.
November 23, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29310908/an-infant-born-to-a-mother-with-anti-n-methyl-d-aspartate-receptor-encephalitis
#15
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/29249552/pretreatment-cognition-in-patients-diagnosed-with-pediatric-brain-tumors
#16
Elin Irestorm, Sean Perrin, Ingrid Tonning Olsson
BACKGROUND: There is a large body of literature identifying risk factors for the long-term cognitive alterations found in survivors of pediatric brain tumors. Less is known about baseline cognitive functioning in this population, but studies suggest that cognitive dysfunctions are often present at the time of diagnosis. This study aimed to identify potential risk factors for lower cognitive function at the time of pediatric brain tumor diagnosis. METHODS: Participants were children and adolescents (n = 101) diagnosed with a pediatric brain tumor between 2006 and 2015, who underwent a pretreatment neuropsychologic assessment...
November 22, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29413641/editorial-board-and-masthead
#17
(no author information available yet)
No abstract text is available yet for this article.
February 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29413639/biotin-and-acetazolamide-for-treatment-of-an-unusual-child-with-autism-plus-lack-of-nail-and-hair-growth
#18
Paul J Benke, Michael Duchowny, Dianalee McKnight
BACKGROUND: Patients with autism spectrum disorder and developmental delay or encephalopathy rarely demonstrate no or negligible hair and nail growth, suggesting a biotin-responsive clinical disorder. METHODS: A ten-year-old girl presented with features of autism spectrum disorder, isolated headaches, and episodes of headaches and limb shaking. Her medical history revealed that her hair and nails did not grow. Administration of biotin restored her nail and hair growth and improved intellectual ability and school performance...
February 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29413638/evidence-of-diplopia-in-children-s-headache-drawings-helps-to-differentiate-pseudotumor-cerebri-from-migraine
#19
Erica B Lee, Fredrick S Edelman, Carl E Stafstrom
OBJECTIVE: This study aimed to determine whether children's headache drawings can distinguish between pseudotumor cerebri and migraine. BACKGROUND: Headache features associated with pseudotumor cerebri (pseudotumor; idiopathic intracranial hypertension) are nonspecific and are difficult to distinguish clinically from migraines. Children's headache drawings have a high predictive value for migraine versus nonmigraine headaches. We hypothesized that drawings could help to differentiate pediatric headaches due to pseudotumor cerebri from those associated with migraines...
February 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29413637/short-takes
#20
Steven G Pavlakis
No abstract text is available yet for this article.
February 2018: Pediatric Neurology
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