journal
MENU ▼
Read by QxMD icon Read
search

Journal of Child Neurology

journal
https://www.readbyqxmd.com/read/28424010/olfactory-development-part-1-function-from-fetal-perception-to-adult-wine-tasting
#1
Harvey B Sarnat, Laura Flores-Sarnat, Xing-Chang Wei
Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also documented by late prenatal and postnatal MRI. Olfactory axons project from nasal epithelium to telencephalon before olfactory bulbs form. Fetal olfactory maturation remains incomplete at term for neuronal differentiation, synaptogenesis, myelination, and persistence of the transitory fetal ventricular recess...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28424009/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
#2
https://www.readbyqxmd.com/read/28424008/olfactory-development-part-2-neuroanatomic-maturation-and-dysgeneses
#3
Harvey B Sarnat, Laura Flores-Sarnat
Olfactory axons project from nasal epithelium to the primitive telencephalon before olfactory bulbs form. Olfactory bulb neurons do not differentiate in situ but arrive via the rostral migratory stream. Synaptic glomeruli and concentric laminar architecture are unlike other cortices. Fetal olfactory maturation of neuronal differentiation, synaptogenesis, and myelination remains incomplete at term and have a protracted course of postnatal development. The olfactory ventricular recess involutes postnatally but dilates in congenital hydrocephalus...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28424007/anesthetic-related-neurotoxicity-and-neuroimaging-in-children-a-call-for-conversation
#4
Kara A Bjur, Eric T Payne, Michael E Nemergut, Danqing Hu, Randall P Flick
Each year millions of young children undergo procedures requiring sedation or general anesthesia. An increasing proportion of the anesthetics used are provided to optimize diagnostic imaging studies such as magnetic resonance imaging. Concern regarding the neurotoxicity of sedatives and anesthetics has prompted the US Food and Drug Administration to change labeling of anesthetics and sedative agents warning against repeated or prolonged exposure in young children. This review aims to summarize the risk of anesthesia in children with an emphasis on anesthetic-related neurotoxicity, acknowledge the value of pediatric neuroimaging, and address this call for conversation...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28424006/book-review-developmental-assessment-theory-practice-and-application-to-neurodisability-sonksen-pm-developmental-assessment-theory-practice-and-application-to-neurodisability-london-mac-keith-press-2016-370-pp-65-00-isbn-978-1-909962-56-9
#5
https://www.readbyqxmd.com/read/28424004/segmental-diffusion-properties-of-the-corticospinal-tract-and-motor-outcome-in-hemiparetic-children-with-perinatal-stroke
#6
Jacquie Hodge, Bradley Goodyear, Helen Carlson, Xing-Chang Wei, Adam Kirton
Perinatal stroke injures developing motor systems, resulting in hemiparetic cerebral palsy. Diffusion tensor imaging can explore structural connectivity. We used diffusion tensor imaging to assess corticospinal tract diffusion in hemiparetic children with perinatal stroke. Twenty-eight children (6-18 years) with unilateral stroke underwent diffusion tensor imaging. Four corticospinal tract assessments included full tract, partial tract, minitract and region of interest. Diffusion characteristics (fractional anisotropy, mean, axial, and radial diffusivity) were calculated...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28424003/phenotypic-heterogeneity-in-a-congenital-disorder-of-glycosylation-caused-by-mutations-in-stt3a
#7
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28135895/neurologic-complications-in-children-with-scorpionism-a-retrospective-study-in-upper-egypt
#8
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%)...
May 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
#9
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...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28116953/brown-vialetto-van-laere-syndrome-as-a-mimic-of-neuroimmune-disorders-3-cases-from-the-clinic-and-review-of-the-literature
#10
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...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28116951/neonatal-respiratory-failure-caused-by-congenital-diffuse-intrinsic-pontine-glioma
#11
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.
May 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
#12
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%)...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28292230/response-to-management-of-anti-n-methyl-d-aspartate-nmda-receptor-encephalitis-in-children
#13
J Nicholas Brenton
No abstract text is available yet for this article.
April 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28128038/management-of-anti-n-methyl-d-aspartate-nmda-receptor-encephalitis-in-children
#14
Madhu Nagappa, S Bindu Parayil, Anita Mahadevan, Sanjib Sinha, Pavagada S Mathuranath, Arun B Taly
No abstract text is available yet for this article.
April 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28084148/does-body-mass-index-predict-premature-cardiomyopathy-onset-for-duchenne-muscular-dystrophy
#15
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...
April 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28056629/pediatric-epilepsy-surgery
#16
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...
April 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28420314/book-review-spasticity-diagnosis-and-management-brashear-a-spasticity-diagnosis-and-management-2nd-edition-new-york-ny-demos-medical-2016-512-pp-135-isbn-9781620700723
#17
https://www.readbyqxmd.com/read/28193119/the-key-search-subtest-of-the-behavioural-assessment-of-the-dysexecutive-syndrome-in-children-bads-c-instrument-reveals-impaired-planning-without-external-constraints-in-children-with-neurofibromatosis-type-1
#18
Daria Riva, Chiara Vago, Alessandra Erbetta, Veronica Saletti, Silvia Esposito, Roberto Micheli, Sara Bulgheroni
Studies of executive function and its relationship with brain T2-weighted hyperintensities in children with neurofibromatosis type 1 (NF1) have yielded inconsistent results. We examined 16 children with NF1 aged 8 to 15 years, of normal intelligence, and compared their findings to those of 16 siblings and 16 typically developing children using the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C). NF1 patients had an adequate overall score at BADS-C, but showed significantly lower performance than typical peers in the Key Search subtest...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28193118/validation-of-polymerase-chain-reaction-based-assay-to-detect-actual-number-of-cgg-repeats-in-fmr1-gene-in-indian-fragile-x-syndrome-patients
#19
Madhumita Roy Chowdhury, Sandeepa Chauhan, Anjali Dabral, B K Thelma, Neerja Gupta, Madhulika Kabra
Molecular genetic testing for fragile X (FX) is complicated due to the large variation in the size of CGG expansion. The aim of this study was to apply this new technique using AmplideX FMR1 PCR assay, which is considered a better diagnostic tool for detecting expanded alleles in Indian population. The primary objective was to identify the carrier status of females and to correlate the instability of premutation alleles in females with the repeat sizes. 24 children with FX based on rapid PCR and 29 female relatives of these patients were included...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28193117/exome-sequencing-identifies-de-novo-dync1h1-mutations-associated-with-distal-spinal-muscular-atrophy-and-malformations-of-cortical-development
#20
Yulin Chen, Yufei Xu, Guoqiang Li, Niu Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Yiping Shen, Jian Wang
Exome sequencing has become a formidable tool for identifying potential de novo variants in causative genes of human diseases, such as neurodegenerative disorders. This article describes a 16-month-old girl with spinal muscular atrophy with lower extremity predominance and a 13-month-old girl with malformations of cortical development. Exome sequencing identified a novel de novo heterozygous missense mutation c.3395G>A (p.Gly1132Glu) and a previously reported de novo heterozygous missense mutation c.10151G>A (p...
March 2017: Journal of Child Neurology
journal
journal
29285
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"