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European Journal of Paediatric Neurology: EJPN

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https://www.readbyqxmd.com/read/28927884/enterovirus-d68-acute-flaccid-paresis-destroying-young-lives
#1
EDITORIAL
Paul Eunson
No abstract text is available yet for this article.
September 11, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28927885/the-challenge-of-triaging-apparently-mild-paediatric-traumatic-brain-injury-in-the-emergency-room-we-re-not-there-yet
#2
EDITORIAL
Rob Forsyth
No abstract text is available yet for this article.
September 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28903859/immune-mediated-neurological-syndromes-old-meets-new
#3
EDITORIAL
Thomas Rossor, Ming J Lim
No abstract text is available yet for this article.
September 6, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28918931/managing-status-dystonicus-outside-the-intensive-care-setting-time-to-think-clonidine
#4
EDITORIAL
Mohamed O E Babiker
No abstract text is available yet for this article.
September 5, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28919330/limbic-encephalitis-with-lgi1-antibodies-in-a-14-year-old-boy
#5
M Schimmel, M C Frühwald, C G Bien
Limbic encephalitis (LE) with antibodies against leucine-rich glioma inactivated protein 1 (LGI1) is an auto-antibody mediated disorder with characteristic symptoms as dysfunction of memory, faciobrachial dystonic seizures and neuropsychiatric symptoms as emotional lability. Limbic encephalitis with LGI1 antibodies has been known so far as a disease of adults. We describe the case of a 14-year-old boy presenting with typical dysfunction of memory and LGI1 antibodies. To the best of our knowledge, this is the youngest patient with LGI1 antibody mediated limbic encephalitis described so far...
September 2, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28927886/tnfrsf1a-and-mefv-mutations-in-childhood-onset-multiple-sclerosis
#6
Astrid Blaschek, Rüdiger V Kries, Peter Lohse, Kristina Huss, Katharina Vill, Bernd H Belohradsky, Florian Heinen, Wolfgang Müller-Felber, Tania Kümpfel
To investigate frequency and phenotype of TNFRSF1A and MEFV mutations in childhood-onset multiple sclerosis (MS). Twenty-nine clinically well characterized patients were investigated for mutations in exons 2, 3, 4, and 6 of the TNFRSF1A gene and in exons 2, 3, 9, 10 of the MEFV gene. Standardized morbidity ratio (SMR) was used to assess whether the number of observed mutations was higher than expected. Eleven out of 29 patients tested positive for mutations. Heterozygosity for the TNFRSF1A R92Q (rs4149584) variant was found in 6/11 mutation-positive patients...
September 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28899586/dissociative-sensibility-disorders-a-retrospective-case-series-and-systematic-literature-review
#7
REVIEW
Peter Weber, Rahel Erlacher
CONTEXT: Dissociative disorders present a huge challenge in clinical settings. In contrast to other dissociative symptoms, dissociative sensibility disorders are rarely focused on. OBJECTIVE: To identify the clinical characteristics and outcomes of dissociative sensibility disorders in children and adolescents, and to review the use of diagnostic procedures. DATA SOURCES: For the review, a literature search used Pubmed, Embase, Web of Science, and PubPsych (to 02/2015) and the reference lists of the studies identified...
September 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28838819/pediatric-idiopathic-intracranial-hypertension-is-the-fixed-threshold-value-of-elevated-lp-opening-pressure-set-too-high
#8
Lucia Gerstl, Nikola Schoppe, Lucia Albers, Birgit Ertl-Wagner, Noam Alperin, Oliver Ehrt, Andreas Pomschar, Mirjam N Landgraf, Florian Heinen
BACKGROUND: Idiopathic intracranial hypertension (IIH) in children is a rare condition of unknown etiology and various clinical presentations. The primary aim of this study was to evaluate if our pediatric IIH study group fulfilled the revised diagnostic criteria for IIH published in 2013, particularly with regard to clinical presentation and threshold value of an elevated lumbar puncture opening pressure. Additionally we investigated the potential utilization of MR-based and fundoscopic methods of estimating intracranial pressure for improved diagnosis...
August 12, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28830650/basics-of-bone-metabolism-and-osteoporosis-in-common-pediatric-neuromuscular-disabilities
#9
REVIEW
Evren Yaşar, Emre Adigüzel, Mutluay Arslan, Dennis J Matthews
Bone modeling is a process that starts with fetal life and continues during adolescence. Complex factors such as hormones, nutritional and environmental factors affect this process. In addition to these factors, physical conditioning and medications that have toxic effects on bony tissue should be carefully considered in patient follow-up. Osteoporosis is a significant problem in pediatric population because of ongoing growth and development of skeletal system. Two types of osteoporosis are primary and secondary types and children with neuromuscular disabilities constitute a major group with secondary osteoporosis...
August 10, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28826624/response-to-the-letter-to-the-editor-regarding-leigh-like-neuroimaging-features-associated-with-new-bi-allelic-mutations-in-opa1
#10
LETTER
Anna Rubegni, Tiziana Pisano, Claudia Nesti, Renzo Guerrini, Filippo M Santorelli
No abstract text is available yet for this article.
August 8, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28797736/corrigendum-to-eeg-changes-in-rolandic-epilepsy-under-treatment-with-levetiracetam-and-sulthiame-eur-j-paediatr-neurol-21-suppl-1-june-2017-e97
#11
Moritz Tacke, Ingo Borggraefe, Lucia Gerstl, Florian Heinen, Katharina Vill, Michaela Bonfert, Thomas Bast
No abstract text is available yet for this article.
August 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28807373/usefulness-of-cocaine-drops-in-investigating-infant-anisocoria
#12
Gilles C Martin, Pierre-Antoine Aymard, Charlotte Denier, Caroline Seghir, Marc Abitbol, Nathalie Boddaert, Dominique Bremond-Gignac, Matthieu P Robert
INTRODUCTION: Whereas apraclonidine has eclipsed cocaine test in the exploration of unilateral miosis in adults, its use in infants is avoided because of the risk of central nervous system depression. This chart review evaluates the usefulness of cocaine drops in infants. METHODS: Infants under the age of one referred for unilateral miosis between November 1, 2009 and November 1, 2015, were reviewed. Patients underwent the following protocol: (1) in case of isolated miosis, cocaine test was performed...
August 4, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28888335/dramatic-relapse-of-seizures-after-everolimus-withdrawal
#13
Alessia Mingarelli, Aglaia Vignoli, Francesca La Briola, Angela Peron, Lucio Giordano, Giuseppe Banderali, Maria Paola Canevini
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by deregulation of the mTOR pathway, and represents one of the leading genetic causes of epilepsy. mTOR inhibitors (Sirolimus and Everolimus) are currently approved only for the treatment of growing subependymal giant cell astrocytomas, renal angiomyolipomas and lymphangioleiomyomatosis in TSC. However, preclinical and clinical evidence supports their potential role in effectively treating TSC-associated epilepsy, but no consensus on its use in seizures has been reached yet and there are few data on epilepsy outcome after the suspension of mTOR inhibitors treatment...
August 3, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28811137/influence-of-guidelines-on-management-of-paediatric-mild-traumatic-brain-injury-ct-assessment-and-admission-policy
#14
J J Lenstra, A R A Pikstra, J M Fock, Z Metting, J van der Naalt
BACKGROUND: The annual number of paediatric injury-related emergency visits and application of computed tomography (CT) has substantially increased, with associated higher risk of malignancies. In 2010, a guideline for CT-assessment based on risk factors for patients with mild traumatic brain injury (mTBI) became effective in all Emergency Departments (ED) in the Netherlands. This study evaluated the influence of this guideline on the frequency of CT-assessments, hospital admissions and factors that are related to guideline adherence...
August 3, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28803159/telangiectasias-small-lesions-referring-to-serious-disorders
#15
REVIEW
J H Schieving, M H D Schoenaker, C M Weemaes, M van Deuren, M van der Flier, M M Seyger, M A A P Willemsen
Telangiectasias are prominent small vessels (venules, capillaries or arterioles) that are visible as small red-purple focal lesions in the skin and mucous membranes. They can serve as a cutaneous marker for a number of primary (mostly hereditary) disorders and they can be secondary to other (systemic) diseases. Patients with telangiectasias are seen by general health practitioners, pediatricians, (pediatric) neurologists, dermatologists, and ophthalmologists. In this article we give an overview of the different disorders in which telangiectasias are a prominent feature, focusing on neurocutaneous disorders in which they serve as a marker for establishing the right diagnosis...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28801223/limited-benefits-of-presymptomatic-cord-blood-transplantation-in-neurovisceral-acid-sphingomyelinase-deficiency-asmd-intermediate-type
#16
Oriane Mercati, Samia Pichard, Marie Ouachée, Roseline Froissart, Odile Fenneteau, Bastien Roche, Monique Elmaleh-Bergès, Yves Bertrand, Hélène Ogier de Baulny, Marie T Vanier, Manuel Schiff
Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of ASM deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed neurodevelopmental delay from 19 months of age, and had died from severe visceral complications at the age of 3...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28844551/safety-and-efficacy-of-high-dose-enteral-intravenous-and-transdermal-clonidine-for-the-acute-management-of-severe-intractable-childhood-dystonia-and-status-dystonicus-an-illustrative-case-series
#17
V Nakou, K Williamson, T Arichi, D E Lumsden, Steve Tomlin, M Kaminska, J-P Lin
OBJECTIVE: Acute dystonia in children is distressing, painful and can progress to life-threatening status dystonicus. Typical management involves benzodiazepines which can result in respiratory depression requiring PICU admission. Clonidine is less respiratory-depressant, and by facilitating sleep, switches dystonia off. It can also be administered via enteral, continuous intravenous infusion, and transdermal slow release routes. We describe the dose range and safety profile of clonidine management in a case-series of children with severe acute exacerbation of dystonia in a tertiary hospital setting...
July 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28760337/somatic-mosaicism-represents-an-underestimated-event-underlying-collagen-6-related-disorders
#18
Adele D'Amico, Fabiana Fattori, Giorgio Tasca, Stefania Petrini, Francesca Gualandi, Alessandro Bruselles, Valentina D'Oria, Margherita Verardo, Rosalba Carrozzo, Marcello Niceta, Bjarne Udd, Alessandra Ferlini, Marco Tartaglia, Enrico Bertini
BACKGROUND: Collagen VI-related disorders (COL6-RD) are a group of heterogenous muscular diseases due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. Ullrich congenital muscle disorder and Bethlem myopathy represent the ends of a clinical spectrum that includes intermediate phenotypes of variable severity. UCMD are caused by recessive loss of function mutations or de-novo dominant-negative mutations. The intermediate phenotype and BM are more commonly caused by dominantly acting mutations, and less commonly by recessive mutations...
July 22, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28755803/sleep-in-infants-with-congenital-myasthenic-syndromes
#19
Serena Caggiano, Sonia Khirani, Elisabetta Verrillo, Christine Barnerias, Alessandro Amaddeo, Cyril Gitiaux, Briac Thierry, Isabelle Desguerre, Renato Cutrera, Brigitte Fauroux
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. The aim of the study was to explore sleep in infants with CMS with a particular focus on heart rate (HR) variability. METHODS: Overnight polygraphy was performed and HR variations associated with respiratory events were analysed. Bradycardia and tachycardia were defined as a variation of HR of ±10 bpm from baseline and analysed as events/hour...
July 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28754298/a-novel-shank3-interstitial-microdeletion-in-a-family-with-intellectual-disability-and-brain-mri-abnormalities-resembling-unidentified-bright-objects
#20
Gaetano Terrone, Giuseppina Vitiello, Rita Genesio, Alessandra D'Amico, Floriana Imperati, Lorenzo Ugga, Teresa Giugliano, Giulio Piluso, Lucio Nitsch, Nicola Brunetti-Pierri, Ennio Del Giudice
BACKGROUND: SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with autism and/or intellectual disability. CASE REPORT: We report a family with four affected individuals including the 37 year-old mother, her 12 year-old male monozygotic twins and 8 year-old daughter harboring a novel SHANK3 interstitial microdeletion. All four members presented with intellectual disability of variable severity. The twins showed brain abnormalities similar to Unidentified Bright Objects (UBOs), typically detected in patients with Neurofibromatosis type 1 (NF1), but they did not display causative mutations in NF1 gene...
July 20, 2017: European Journal of Paediatric Neurology: EJPN
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