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https://www.readbyqxmd.com/read/28427100/dystrophinopathies-and-limb-girdle-muscular-dystrophies
#1
Joana Domingos, Anna Sarkozy, Mariacristina Scoto, Francesco Muntoni
Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's and Becker's muscular dystrophies, but in reality they are a spectrum of muscle diseases caused by mutations in the gene that encodes the protein dystrophin. Duchenne's muscular dystrophy is the most common form of inherited muscle disease of childhood...
April 20, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28420012/vitamin-b6-responsive-epilepsy-due-to-a-novel-kcnq2-mutation
#2
Kerstin Alexandra Klotz, Johannes R Lemke, Rudolf Korinthenberg, Julia Jacobs
Mutations in KCNQ2, encoding for subunits of potassium channels, are known to cause neonatal epileptic encephalopathy (NEE). Therapeutic options for these children are often limited. Recently, there are indications that some patients with KCNQ2 NEE show seizure response to vitamin B6 (VB6) therapy. We present a young infant with severe KCNQ2 encephalopathy resulting from a novel de novo mutation (c.1023G>C; p.(Gln341His)). In our patient, VB6 responsiveness could be demonstrated clearly by remarkable seizure-response to VB6 therapy and seizure exacerbation to discontinuation of VB6 therapy...
April 18, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28411587/novel-stac3-mutations-in-the-first-non-amerindian-patient-with-native-american-myopathy
#3
Michelle Grzybowski, Anne Schänzer, Alexander Pepler, Corina Heller, Bernd A Neubauer, Andreas Hahn
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28411586/inherited-and-acquired-muscle-weakness-a-moving-target-for-diagnostic-muscle-biopsy
#4
Werner Stenzel, Benedikt Schoser
Inherited and acquired muscular weakness is caused by multiple conditions. While the inherited ones are mostly caused by mutations in genes coding for myopathic or neurogenic diseases, the acquired ones occur due to inflammatory, endocrine, or toxic etiologies. Precise diagnosis of a specific disease may be challenging and may require a multidisciplinary approach. What is the current place for a diagnostic biopsy of skeletal muscle? Diagnostic muscle biopsy lost in this context its first-tier place in the primary diagnostic workup for some diseases, but it is still mandatory for others...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28399591/autosomal-recessive-primary-microcephaly-mcph-an-update
#5
Sami Zaqout, Deborah Morris-Rosendahl, Angela M Kaindl
Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.
April 11, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28399590/congenital-glioblastoma-multiforme-an-unusual-and-challenging-tumor
#6
Dimitrios M Anestis, Parmenion P Tsitsopoulos, Christina A Ble, Vassilios Tsitouras, Christos A Tsonidis
Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those individuals who can tolerate combined surgical resection and chemotherapy has been noted. The overall prognosis, however, remains poor. A better understanding of this unusual entity is important. Further research is needed to discern tumor's pathogenesis and natural history...
April 11, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28395385/genetic-phenotypic-and-interferon-biomarker-status-in-adar1-related-neurological-disease
#7
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton, Maria Luisa Carpanelli, Alfredo M Cerisola, Cindy Colson, Russell C Dale, Federica Rachele Danti, Niklas Darin, Begoña De Azua, Valentina De Giorgis, Christian G L De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael C Fahey, Penny Fallon, Alex Fay, Elisa Fazzi, Mark P Gorman, Nirmala Rani Gowrinathan, Marie Hully, Manju A Kurian, Nicolas Leboucq, Jean-Pierre S-M Lin, Matthew A Lines, Soe S Mar, Reza Maroofian, Laura Martí-Sanchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Dario Ortigoza-Escobar, Belén Pérez-Dueñas, Florence Petit, Keri M Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez-Pombo, Agathe Roubertie, Tommy I Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H Livingston, Yanick J Crow
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p...
April 10, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28388738/riboflavin-responsive-multiple-acyl-coa-dehydrogenase-deficiency-associated-with-hepatoencephalomyopathy-and-white-matter-signal-abnormalities-on-brain-mri
#8
Päivi Vieira, Päivi Myllynen, Marja Perhomaa, Hannu Tuominen, Riikka Keski-Filppula, Seppo Rytky, Leila Risteli, Johanna Uusimaa
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting both fatty acid and amino acid oxidation. It can manifest at any age, but riboflavin-responsiveness has mainly been described in less severely affected patients. We describe an infant with severe MADD presenting with profound hypotonia and hepatomegaly. Treatment with riboflavin improved his muscle strength, liver size, and biochemical markers. A homozygous mutation of electron transfer flavoprotein dehydrogenase (ETFDH) was found...
April 7, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28388737/lack-of-long-term-neurologic-efficacy-of-zileuton-in-sj%C3%A3-gren-larsson-s-syndrome
#9
Catherine Sarret, Samia Pichard, Alexandra Afenjar, Odile Boespflug-Tanguy
No abstract text is available yet for this article.
April 7, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28346953/lennox-gastaut-syndrome-a-state-of-the-art-review
#10
Mario Mastrangelo
Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting from dysfunctions of a complex system involving both cortical and subcortical structures (default-mode network, corticoreticular connections, and thalamus). These dysfunctions are produced by different disorders including hypoxic-ischemic encephalopathies, meningoencephalitis, cortical malformations, neurocutaneous disorders, or tumors...
March 27, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28335042/acute-sensory-neuronopathy-following-enterovirus-infection-in-a-3-year-old-girl
#11
Chih-Chin Chiu, Chen-Ya Yang, Tsui-Fen Yang, Kon-Ping Lin, Shou-Hsien Huang, Jia-Chi Wang
Acute sensory neuronopathy (SNN) is a rapidly developing peripheral nervous system disease that primarily affects sensory neurons in the dorsal root ganglion or trigeminal ganglion, leading to the impairment of sensory axons. SNN is notably uncommon in childhood; only three cases of childhood or adolescent SNN have been reported to date. Moreover, SSN has never been reported in association with enterovirus infection. Here, we report the case of a 3-year-old girl who was initially diagnosed with enterovirus infection based on the presentation of fevers, rashes on all extremities, and ulceration over the posterior pharynx...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28335041/the-cerebellum-and-its-wrapping-meninge-developmental-interplay-between-two-major-structures
#12
Martin Catala
Meninges have long been considered as a protective and supportive tissue for the central nervous system. Nevertheless, new developmental roles are now attributed to them. The meninges that surround the cerebellum come from the cephalic mesoderm. They are essential for the cerebellum to develop normally. They induce and maintain the basal lamina and glia limitans. In the absence of these structures, the external granular cells of the cerebellum migrate aberrantly and penetrate the subarachnoid space. The molecules involved in the recognition between the cerebellar primordium and the basal lamina belong to two groups in humans: dystroglycan and laminin on the one hand, and GPR56 and collagen III on the other...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28324910/lacosamide-lowers-valproate-and-levetiracetam-levels
#13
Maria Tountopoulou, Bernhard Weschke, Angela M Kaindl
Lacosamide (LCM) due to no known drug interaction and the absence of metabolic enzyme induction is a good candidate for an add-on medication, especially in combination with lamotrigine, levetiracetam (LEV), oxcarbazepine, topiramate, and valproic acid (VPA). Here we report for the first time, to our knowledge, that LCM can lower VPA and LEV serum levels. At present, there are no known explicable mechanisms of action of LCM, which lowers VPA and LEV. Here observed drug interaction of LCM is of clinical significance, which might be useful for other colleagues in the field...
March 21, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28301882/infantile-hemangioma-of-the-posterior-fossa-in-a-newborn-early-management-and-long-term-follow-up
#14
Elsa Haine, Annick Sevely, Sergio Boetto, Marie-Bernadette Delisle, Claude Cances
A 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance...
March 16, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28301881/quality-of-life-and-fitness-in-children-and-adolescents-with-epilepsy-epifit
#15
Markus Rauchenzauner, Claudia Hagn, Romana Walch, Matthias Baumann, Edda Haberlandt, Martin Frühwirth, Kevin Rostasy
Objective The objective of this study was to evaluate the correlation between fitness and health-related quality of life (HRQoL) in children with idiopathic epilepsy compared with a healthy matched control group. Methods In this study, 107 children conducted a 6-minute walk test, anthropometric parameters were measured, and HRQoL was assessed using a standardized questionnaire (KINDL-R). Children were divided into two groups: (1) the patient group (n = 48) and (2) the healthy control group (n = 59)...
March 16, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28255964/mr-imaging-of-acute-cerebellar-involvement-in-pediatric-anti-n-methyl-d-aspartate-receptor-encephalitis
#16
Bruno P Soares, Sonia F Calloni, Shai Shrot, Andrea Poretti
No abstract text is available yet for this article.
March 2, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28249300/4h-leukodystrophy-a-brain-magnetic-resonance-imaging-scoring-system
#17
Suzanne Vrij-van den Bos, Janna A Hol, Roberta La Piana, Inga Harting, Adeline Vanderver, Frederik Barkhof, Ferdy Cayami, Wessel N van Wieringen, Petra J W Pouwels, Marjo S van der Knaap, Geneviève Bernard, Nicole I Wolf
4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder with neurologic, dental, and endocrine abnormalities. The aim of this study was to develop and validate a magnetic resonance imaging (MRI) scoring system for 4H. A scoring system (0-54) was developed to quantify hypomyelination and atrophy of different brain regions. Pons diameter and bicaudate ratio were included as measures of cerebral and brainstem atrophy, and reference values were determined using controls...
March 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28324907/invitation-and-welcome-to-the-43rd-annual-meeting-of-the-society-for-neuropediatrics
#18
Bernd A Neubauer, Andreas Hahn
No abstract text is available yet for this article.
April 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28324906/the-importance-of-facts-and-the-role-of-academic-publishers-in-today-s-world-a-publisher-s-view
#19
Daniel Schiff
No abstract text is available yet for this article.
April 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28282668/plasticity-during-early-brain-development-is-determined-by-ontogenetic-potential
#20
REVIEW
Ingeborg Krägeloh-Mann, Karen Lidzba, Marina A Pavlova, Marko Wilke, Martin Staudt
Two competing hypotheses address neuroplasticity during early brain development: the "Kennard principle" describes the compensatory capacities of the immature developing CNS as superior to those of the adult brain, whereas the "Hebb principle" argues that the young brain is especially sensitive to insults. We provide evidence that these principles are not mutually exclusive. Following early brain lesions that are unilateral, the brain can refer to homotopic areas of the healthy hemisphere. This potential for reorganization is unique to the young brain but available only when, during ontogenesis of brain development, these areas have been used for the functions addressed...
April 2017: Neuropediatrics
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