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European Journal of Paediatric Neurology: EJPN

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https://www.readbyqxmd.com/read/28625338/acute-diplopia-in-the-pediatric-emergency-department-a-cohort-multicenter-italian-study
#1
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Francesco La Penna, Valentina Ferro, Lucia Calistri, Claudia Bondone, Fabio Midulla, Agnese Suppiej, Raffaele Falsaperla, Duccio Maria Cordelli, Antonella Palmieri, Alberto Verrotti, Sabrina Becciani, Sonia Aguzzi, Mario Mastrangelo, Federica Pelizza, Filippo Greco, Giulia Carbonari, Ramona Tallone, Gabriella Bottone, Italo Trenta, Stefano Masi, Maria Pia Villa, Antonino Reale
BACKGROUND: Acute diplopia (AD) is an uncommon and distressing symptom of numerous ocular and neurological conditions, with potentially serious sequelaes. No data are present in pediatrics on the presentation and management of AD. AIM: This study investigated characteristics, etiology and health care utilization of the pediatric population with AD accessed to pediatric Emergency Departments (ED), trying to identify "red flags" associated with potentially life-threatening (LT) conditions...
June 3, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28623069/neonatal-hypoglycemia-a-wide-range-of-electroclinical-manifestations-and-seizure-outcomes
#2
Ebru Arhan, Zeynep Öztürk, Ayşe Serdaroğlu, Kürşad Aydın, Tuğba Hirfanoğlu, Yılmaz Akbaş
PURPOSE: We examined the various types of epilepsy in children with neonatal hypoglycemia in order to define electroclinical and prognostic features of these patients. METHOD: We retrospectively reviewed the medical records of patients with a history of symptomatic neonatal hypoglycaemia who have been followed at Gazi University Hospital Pediatric Neurology Department between 2006 and 2015. Patients with perinatal asphyxia were excluded. Details of each patient's perinatal history, neurological outcome, epilepsy details, seizure outcome and EEG and brain MRI findings were reviewed...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28619364/outcome-of-arterial-ischemic-stroke-in-children-with-heart-disease
#3
María Vázquez López, Pedro de Castro de Castro, Estibaliz Barredo Valderrama, Ma Concepción Miranda Herrero, Nuria Gil Villanueva, Andrés J Alcaraz Romero, Samuel I Pascual Pascual
Arterial ischemic strokes (AIS) are rare in childhood. Congenital and acquired heart diseases are one of the most important risk factors of AIS in children. OBJECTIVE: Study the outcome of children with heart disease that have suffered AIS and the factors that influence on prognosis. PATIENTS AND METHODS: We evaluated all children with heart disease who had suffered AIS between 2000 and 2014 in our hospital. RESULTS: Seventy-four children with heart disease suffered an arterial ischemic stroke...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28606752/how-does-the-interaction-of-presumed-timing-location-and-extent-of-the-underlying-brain-lesion-relate-to-upper-limb-function-in-children-with-unilateral-cerebral-palsy
#4
Lisa Mailleux, Katrijn Klingels, Simona Fiori, Cristina Simon-Martinez, Philippe Demaerel, Marlies Locus, Eva Fosseprez, Roslyn N Boyd, Andrea Guzzetta, Els Ortibus, Hilde Feys
BACKGROUND: Upper limb (UL) function in children with unilateral cerebral palsy (CP) vary largely depending on presumed timing, location and extent of brain lesions. These factors might exhibit a complex interaction and the combined prognostic value warrants further investigation. This study aimed to map lesion location and extent and assessed whether these differ according to presumed lesion timing and to determine the impact of structural brain damage on UL function within different lesion timing groups...
May 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28566192/association-of-a-synonymous-scn1b-variant-affecting-splicing-efficiency-with-benign-familial-infantile-epilepsy-bfie
#5
Sunay Usluer, Melek Aslı Kayserili, Aslı Gündoğdu Eken, Uluc Yiş, Costin Leu, Janine Altmüller, Holger Thiele, Peter Nürnberg, Thomas Sander, S Hande Çağlayan
Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most common cause of BFIE, and found in about 80% of BFIE families. In this study, we analyzed a large multiplex BFIE family by linkage and whole exome sequencing (WES) analyses. Genome-wide linkage analysis revealed significant evidence for linkage in the chromosomal region 19p12-q13 (LOD score 3...
May 13, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28532985/upper-limb-and-hand-patterns-in-cerebral-palsy-reliability-of-two-new-classifications
#6
E Chaleat-Valayer, R Bard-Pondarre, J C Bernard, F Roumenoff, A Lucet, A Denis, P Occelli, S Touzet
AIM: To evaluate the inter- and intra-rater reliability of two previously developed classifications of upper limb and hand patterns. METHOD: Two hundred and twelve films of patients with CP (118 of UL postures and 94 of hand tasks; median age 14, 3-46 years) were viewed by 18 examiners from 2 different rehabilitation centers, and one expert who had participated in the design of the classifications. They classed upper limb (3 patterns with sub-types) and hand patterns (2 patterns with subtypes) twice, at 2 months' interval...
May 10, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28549726/spasticity-dyskinesia-and-ataxia-in-cerebral-palsy-are-we-sure-we-can-differentiate-them
#7
H Eggink, D Kremer, O F Brouwer, M F Contarino, M E van Egmond, A Elema, K Folmer, J F van Hoorn, L A van de Pol, V Roelfsema, M A J Tijssen
OBJECTIVE: Cerebral palsy (CP) can be classified as spastic, dyskinetic, ataxic or combined. Correct classification is essential for symptom-targeted treatment. This study aimed to investigate agreement among professionals on the phenotype of children with CP based on standardized videos. METHODS: In a prospective, observational pilot study, videos of fifteen CP patients (8 boys, mean age 11 ± 5 y) were rated by three pediatric neurologists, three rehabilitation physicians and three movement disorder specialists...
May 9, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28506426/heterogeneity-of-fhf1-related-phenotype-novel-case-with-early-onset-severe-attacks-of-apnea-partial-mitochondrial-respiratory-chain-complex-ii-deficiency-neonatal-onset-seizures-without-neurodegeneration
#8
Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cécile Mignon-Ravix, Brigitte Chabrol, Laurent Villard, Mathieu Milh
INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was normal. Recording of attacks using prolonged video-EEG recording allowed to confirm the diagnosis of epileptic seizures. RESULTS: Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p...
April 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28495245/massive-parallel-sequencing-identifies-rapsn-and-pdha1-mutations-causing-fetal-akinesia-deformation-sequence
#9
Lore Winters, Evelien Van Hoof, Luc De Catte, Kris Van Den Bogaert, Thomy de Ravel, Liesbeth De Waele, Anniek Corveleyn, Jeroen Breckpot
INTRODUCTION: Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC/FADS in a diagnostic setting. METHODS: An in-house developed disease-associated gene panel was conducted in two unrelated fetuses with FADS...
April 26, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28457757/juvenile-myasthenia-gravis-in-norway-clinical-characteristics-treatment-and-long-term-outcome-in-a-nationwide-population-based-cohort
#10
T H Popperud, M I Boldingh, M Rasmussen, E Kerty
BACKGROUND: This study aimed to characterize juvenile myasthenia gravis in a national population-based cohort in Norway, and to evaluate long-term outcome and potential differences correlated with prepubertal versus postpubertal disease onset. PATIENTS AND METHODS: Patients with onset of myasthenia gravis aged ≤18 years were identified through multiple strategies. Retrospective clinical data were collected by means of medical charts. All patients had an updated clinical examination...
April 20, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28442211/leigh-like-neuroimaging-features-associated-with-new-biallelic-mutations-in-opa1
#11
Anna Rubegni, Tiziana Pisano, Giacomo Bacci, Alessandra Tessa, Roberta Battini, Elena Procopio, Sabrina Giglio, Rosa Pasquariello, Filippo Maria Santorelli, Renzo Guerrini, Claudia Nesti
Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy...
April 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28499876/mr-imaging-for-accurate-prediction-of-outcome-after-perinatal-arterial-ischemic-stroke-sooner-not-necessarily-better
#12
Nienke Wagenaar, Niek E van der Aa, Floris Groenendaal, Cornelia H Verhage, Manon J N L Benders, Linda S de Vries
BACKGROUND: Involvement of the corticospinal tracts after perinatal arterial ischemic stroke (PAIS) is strongly correlated with adverse motor outcome. METHODS: Two full-term infants with PAIS, with two early MRI scans available, are reported. RESULTS: Diffusion weighted imaging (DWI)-MRI, performed within 24 h following onset of seizures and repeated 48 h later, clearly showed restricted diffusion within the middle cerebral artery territory on both MRIs, but clear patterns of signal intensity changes in the descending corticospinal tracts on the second MRI only...
April 12, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28461111/validated-age-specific-reference-values-for-csf-total-protein-levels-in-children
#13
V Kahlmann, J Roodbol, N van Leeuwen, C R B Ramakers, D van Pelt, R F Neuteboom, C E Catsman-Berrevoets, M C Y de Wit, B C Jacobs
OBJECTIVE: To define age-specific reference values for cerebrospinal fluid (CSF) total protein levels for children and validate these values in children with Guillain-Barré syndrome (GBS), acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). METHODS: Reference values for CSF total protein levels were determined in an extensive cohort of diagnostic samples from children (<18 year) evaluated at Erasmus Medical Center/Sophia Children's Hospital...
April 8, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28495246/clonidine-adhesive-patch-for-the-treatment-of-tic-disorders-a-systematic-review-and-meta-analysis
#14
Shuai Wang, Yan-Zhao Wei, Jianhong Yang, Yuming Zhou, Yi Zheng
OBJECTIVE: The aim of this study was to evaluate the efficacy and safety of clonidine adhesive patch for tic disorders (TDs). METHODS: Medline, Embase, Cochrane central register of controlled trials and Chinese databases of CBM, CNKI were searched from inception to 08.2016 for randomized controlled studies (RCTs), open-label control studies of clonidine adhesive patch versus other medications or/and placebo for TDs. The cochrane Handbook for Systematic Reviews of Interventions was used to guide our study...
April 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28433244/reliability-in-cerebellar-size-assessment-by-2d-cranial-ultrasonography-in-neonates
#15
María Carmen Bravo, Eva Valverde
BACKGROUND: Cerebellar size appears to be correlated with the long-term outcome of preterm infants. Two-dimensional cranial ultrasonography (2D-cUS) is the first-line, routine tool to characterize newborn cerebral structures. Information regarding the accuracy of 2D-cUS for assessing cerebellar size is scarce. OBJECTIVES: To assess the reliability of cerebellar size using 2D-cUS. METHODS: Fifty infants were prospectively scanned for a variety of clinical indications...
April 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28389060/paraneoplastic-limbic-encephalitis-with-sox1-and-pca2-antibodies-and-relapsing-neurological-symptoms-in-an-adolescent-with-hodgkin-lymphoma
#16
M Kunstreich, J H Kreth, P T Oommen, J Schaper, M Karenfort, O Aktas, D Tibussek, F Distelmaier, A Borkhardt, M Kuhlen
BACKGROUND: Immune cross-reactivity between malignant and normal tissues causes the rare, so called paraneoplastic syndrome (PS). In approximately 60% of the patients, various onconeural antibodies are detectable in the cerebrospinal fluid (CSF) and are associated with typical tumour entities. METHODS: We report an unusual case of paraneoplastic limbic encephalitis (PLE) in a 17-year-old adolescent with classical Hodgkin lymphoma. RESULTS: He presented with a variety of neurologic and neuropsychiatric symptoms, profound B-symptoms and typical MRI findings including hyperintense lesions with contrast enhancement in the medial temporal lobe and limbic system...
March 27, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28552318/author-s-response-extracerebral-thrombi-in-symptomatic-neonatal-arterial-ischemic-stroke
#17
LETTER
Joel Fluss, Stéphane Chabrier
No abstract text is available yet for this article.
July 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28552317/extracerebral-thrombosis-in-symptomatic-neonatal-arterial-ischemic-stroke
#18
LETTER
Juan Arnaez, Alfredo Garcia-Alix
No abstract text is available yet for this article.
July 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28552316/reliability-in-cerebellar-size-assessment-by-2d-cranial-ultrasonography-in-neonates
#19
EDITORIAL
André M Graça
No abstract text is available yet for this article.
July 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28552315/new-insights-into-adrenoleukodystrophy
#20
EDITORIAL
Steven G Pavlakis
No abstract text is available yet for this article.
July 2017: European Journal of Paediatric Neurology: EJPN
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