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Journal of Child Neurology

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https://www.readbyqxmd.com/read/28181441/book-review-neonatal-seizures-current-management-and-future-challenges-nagarajan-l-neonatal-seizures-current-management-and-future-challenges-london-mac-keith-press-2016-214-pp-65-00-isbn-978-1-909962-67-5
#1
https://www.readbyqxmd.com/read/28135895/neurologic-complications-in-children-with-scorpionism
#2
Khaled Saad, Mohamed A Abd El-Hamed, Mohamed Gamil M Abo-Elela, Ahmed E Ahmed, Khaled A Abdel-Baseer, Mohamed Diab Aboul-Khair, Kotb Abbass Metwalley, Amira A El-Houfey, Gamal M Hasan, Ahmad M El-Shareef
Scorpion envenomation is a life-threatening health problem in tropical and subtropical regions, particularly among children. The aim of this study was to describe the epidemiologic characteristics, clinical profile, and prognosis of neurologic complications among children with scorpionism in Upper Egypt. In this retrospective study, the neurologic complications of scorpionism in 2 university hospitals were analyzed from the points of epidemiologic and clinical picture and outcomes. The neurologic manifestations were found at a high percentage (85%)...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28135894/infantile-serine-biosynthesis-defect-due-to-phosphoglycerate-dehydrogenase-deficiency-variability-in-phenotype-and-treatment-response-novel-mutations-and-diagnostic-challenges
#3
Paul J Benke, Ryan J Hidalgo, Bruce H Braffman, Judith Jans, Koen L I van Gassen, Rawda Sunbul, Ayman W El-Hattab
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity...
1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28134012/treatment-of-epileptic-encephalopathies
#4
Hiroki Nariai, Susan Duberstein, Shlomo Shinnar
Childhood epileptic encephalopathies are age-dependent disorders of the brain whose hallmarks include loss of neurologic function over time, abnormal electroencephalographic findings, and seizures. Ictal and interictal electrographic activity are conjointly thought to be at the root of the often devastating neuropsychological deterioration, which is specific to the maturing brain. The goals of treatment are not only to control seizures, but also to prevent or reverse neurologic loss of function. In general, time is of the essence in diagnosis, and experienced specialists should promptly design a treatment plan...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28128038/management-of-anti-n-methyl-d-aspartate-nmda-receptor-encephalitis-in-children
#5
Madhu Nagappa, Parayil S Bindu, Anita Mahadevan, Sanjib Sinha, Pavagada S Mathuranath, Arun B Taly
No abstract text is available yet for this article.
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28128037/secondary-prevention-of-childhood-arterial-ischemic-stroke
#6
Stéphane Darteyre, Cyrille Renaud, Joel Fluss, Silvy Laporte, Laurent Bertoletti, Stéphane Chabrier
This study aimed to know how frontline physicians in France, Belgium, and Switzerland implement guidelines regarding the secondary prevention of childhood arterial ischemic stroke and to introduce physicians' point of view on a clinical trial assessing the efficacy of aspirin as a preventive strategy. The authors conducted an online survey directed at specialists throughout dedicated networks and used a mixed method for data analysis. Overall, 63 physicians responded, and 88% prescribe aspirin when sickle cell disease, cardio-embolic stroke, and dissection of cervical arteries are excluded...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28128035/functional-plasticity-in-the-absence-of-structural-change
#7
Tal Krasovsky, Jana Landa, Orly Bar, Ahonniska-Assa Jaana, Abigail Livny, Galia Tsarfaty, Tamar Silberg
This work presents a case of a young woman with apraxia and a severe body scheme disorder, 10 years after a childhood frontal and occipitoparietal brain injury. Despite specific limitations, she is independent in performing all activities of daily living. A battery of tests was administered to evaluate praxis and body representations. Specifically, the Hand Laterality Test was used to compare RS's dynamic body representation to that of healthy controls (N = 14). Results demonstrated RS's severe praxis impairment, and the Hand Laterality Test revealed deficits in accuracy and latency of motor imagery, suggesting a significant impairment in dynamic body representation...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28116953/brown-vialetto-van-laere-syndrome-as-a-mimic-of-neuroimmune-disorders
#8
Tyler Allison, Inés Roncero, Rob Forsyth, Keith Coffman, Jean-Baptiste Le Pichon
We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed mutations in one of the riboflavin transporters, confirming Brown-Vialetto-Van Laere syndrome. It is likely that Brown-Vialetto-Van Laere syndrome is more common than previously reported, and because it mimics neuroimmune disorders, it may be misdiagnosed as such...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28116951/neonatal-respiratory-failure-caused-by-congenital-diffuse-intrinsic-pontine-glioma
#9
Katie M Satrom, Rachel A Phelan, Christopher L Moertel, H Brent Clark, Dana E Johnson, Thomas N George
The authors present a case of diffuse intrinsic pontine glioma presenting in a newborn with stridor and respiratory distress that progressed to respiratory failure. Magnetic resonance imaging (MRI) of the brain revealed findings compatible with the diagnosis of diffuse intrinsic pontine glioma. The family pursued palliative care and postmortem examination confirmed WHO grade III astrocytoma.
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28112012/physical-activity-in-boys-with-duchenne-muscular-dystrophy-is-lower-and-less-demanding-compared-to-healthy-boys
#10
Lotte Heutinck, Nadine van Kampen, Merel Jansen, Imelda J M de Groot
This study describes the amount of physical activity and perception of physical activity in boys with Duchenne muscular dystrophy (DMD) compared to healthy boys. A questionnaire described 6 domains of physical activity. Four Duchenne muscular dystrophy subgroups were made: early and late ambulatory, nonambulatory with relative good, or limited arm function. Eighty-four boys with Duchenne muscular dystrophy (15.0 ± 6.4 years) and 198 healthy boys (14.0 ± 4.3 years) participated. Daily activities were more passive for boys with Duchenne muscular dystrophy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28112011/optimal-duration-of-continuous-video-electroencephalography-in-term-infants-with-hypoxic-ischemic-encephalopathy-and-therapeutic-hypothermia
#11
Naeem Mahfooz, Arie Weinstock, Bushra Afzal, Mariam Noor, David Vargas Lowy, Osman Farooq, Sarah G Finnegan, Satyan Lakshminrusimha
Continuous video-electroencephalography (EEG) is an important diagnostic and prognostic tool in newborns with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia. The optimal duration of continuous video-EEG during whole-body hypothermia is not known. We conducted a retrospective study of 35 neonates with hypoxic-ischemic encephalopathy undergoing whole-body hypothermia with continuous video-EEG. EEG ictal changes were detected in 9/35 infants (26%). Of these 9 infants, the seizures were initially observed within 30 minutes of EEG monitoring in 6 (67%), within 24 hours in 2 (22%), and during rewarming in 1 infant (11%)...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28112010/response-to-management-of-anti-n-methyl-d-aspartate-nmda-receptor-encephalitis-in-children
#12
J Nicholas Brenton
No abstract text is available yet for this article.
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28090797/dimensions-of-attention-associated-with-the-microstructure-of-corona-radiata-white-matter
#13
Elise A Stave, Michael D De Bellis, Steven R Hooper, Donald P Woolley, Suk Ki Chang, Steven D Chen
Mirsky proposed a model of attention that included these dimensions: focus/execute, sustain, stabilize, encode, and shift. The neural correlates of these dimensions were investigated within corona radiata subregions in healthy youth. Diffusion tensor imaging and neuropsychological assessments were conducted in 79 healthy, right-handed youth aged 4-17 years. Diffusion tensor imaging maps were analyzed using standardized parcellation methods. Partial Pearson correlations between neuropsychological standardized scores, representing these attention dimensions, and diffusion tensor imaging measures of corona radiata subregions were calculated after adjusting for gender and IQ...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28084148/does-body-mass-index-predict-premature-cardiomyopathy-onset-for-duchenne-muscular-dystrophy
#14
Meghann McKane, Jonathan H Soslow, Meng Xu, Benjamin R Saville, James C Slaughter, W Bryan Burnette, Larry W Markham
Duchenne muscular dystrophy leads to cardiomyopathy. The objective of this study was to estimate the association of body mass index with cardiomyopathy onset. Cardiomyopathy was defined as left ventricular ejection fraction <55% or left ventricular fractional shortening <28%. Overall, 48% met the criteria for cardiomyopathy. We were unable to demonstrate an association between body mass index Z score and age of cardiomyopathy onset (hazard ratio 0.79, 95% confidence interval 0.57-1.11, P = .17) after adjusting for covariates...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28079431/vagus-nerve-stimulation-in-intractable-epilepsy-associated-with-scn1a-gene-abnormalities
#15
Stephen P Fulton, Kate Van Poppel, Amy L McGregor, Basanagoud Mudigoudar, James W Wheless
Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy-Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28068857/abobotulinumtoxina-dysport-%C3%A2-improves-function-according-to-goal-attainment-in-children-with-dynamic-equinus-due-to-cerebral-palsy
#16
Ann Tilton, Barry Russman, Resa Aydin, Umit Dincer, Raul G Escobar, Sehim Kutlay, Zbigniew Lipczyk, Juan Carlos Velez, Anne-Sophie Grandoulier, Anissa Tse, Philippe Picaut, Mauricio R Delgado
This secondary analysis of a large (n = 241), randomized, double-blind study evaluated the efficacy of 2 doses of abobotulinumtoxinA + standard of care (SOC) versus placebo + SOC in enabling children with dynamic equinus due to cerebral palsy to achieve their functional goals using Goal Attainment Scaling. Most parents/caregivers selected goals targeting aspects of gait improvement as most relevant. Mean (95% confidence interval) Goal Attainment Scaling T scores at week 4 were higher for both abobotulinumtoxinA groups versus placebo (treatment difference vs placebo: 10 U/kg/leg: 5...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28056630/a-model-program-for-translational-medicine-in-epilepsy-genetics
#17
Lacey A Smith, Jeremy F P Ullmann, Heather E Olson, Christelle M El Achkar, Gessica Truglio, McKenna Kelly, Beth Rosen-Sheidley, Annapurna Poduri
Recent technological advances in gene sequencing have led to a rapid increase in gene discovery in epilepsy. However, the ability to assess pathogenicity of variants, provide functional analysis, and develop targeted therapies has not kept pace with rapid advances in sequencing technology. Thus, although clinical genetic testing may lead to a specific molecular diagnosis for some patients, test results often lead to more questions than answers. As the field begins to focus on therapeutic applications of genetic diagnoses using precision medicine, developing processes that offer more than equivocal test results is essential...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28056629/pediatric-epilepsy-surgery-the-prognostic-value-of-central-nervous-system-comorbidities-in-patients-and-their-families
#18
Krista J Qualmann, Christine G Spaeth, Melanie F Myers, Paul S Horn, Katherine Holland, Francesco T Mangano, Hansel M Greiner
Central nervous system comorbidities have been identified in patients with epilepsy. Several of these comorbidities have been correlated with poor surgery outcomes in patient cohorts. The authors sought to determine if prevalence of comorbidities in pediatric epilepsy surgery patients and their families correlate with long-term seizure outcome in a cross-sectional analysis. Three-generation pedigrees were elicited to compare family history of epilepsy, ADHD, anxiety, autism, bipolar disorder, cognitive disability, depression, migraine, and motor disability to surgery outcomes in 52 patients...
1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/27932598/how-much-cerebrospinal-fluid-should-we-remove-prior-to-measuring-a-closing-pressure
#19
Son H McLaren, Michael C Monuteaux, Atima C Delaney, Assaf Landschaft, Amir A Kimia
OBJECTIVE: The objective of this study was to identify a relationship between cerebrospinal fluid (CSF) volume removal and change in CSF pressure in children with suspected idiopathic intracranial hypertension (IIH). METHODS: We performed a cross-sectional study of children 22 years and younger who underwent a lumbar puncture (LP) and had a documented opening pressure, closing pressure, and volume removed. Relationship between volume removal and pressure change was determined using a fractional polynomial regression procedure...
December 8, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27932596/infantile-lhermitte-duclos-disease-treated-successfully-with-rapamycin
#20
Megan Zak, Mark Ledbetter, Paul Maertens
Lhermitte-Duclos disease is a rare hamartomatous tumor of the cerebellum resulting from a mutation in the phosphatase and tensin homolog (PTEN) gene: it has been reported in fewer than 10 infants. Rapamycin treatment has not yet been described in Lhermitte-Duclos disease. The infant underwent shunt placement shortly after birth for aqueductal stenosis. Her clinical progression included failure to thrive, seizures, episodes of decerebrate posturing, loss of respiratory drive, and pituitary insufficiency from mass effect...
December 8, 2016: Journal of Child Neurology
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