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Neuropediatrics

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https://read.qxmd.com/read/31009955/factors-influencing-motor-outcome-of-hippotherapy-in-children-with-cerebral-palsy
#1
Yeo Seung Mi, Lee Ji Young, Shin Hye Yeon, Seo Yun Sik, Kwon Jeong Yi
OBJECTIVE:  This study was aimed to identify individual factors influencing the gross motor outcome of hippotherapy in children with cerebral palsy (CP). METHODS:  One hundred and forty-six children with CP (mean age: 5.78 ± 1.72 years, male: 56.2%) presenting variable function (gross motor function classification system [GMFCS], levels I-IV) participated in this study. Participants received 30 minutes of hippotherapy twice a week for 8 weeks. Clinical information including GMFCS level, age, sex, CP distribution, CP type, gross motor function measure-88 (GMFM-88), GMFM-66, and pediatric balance scale (PBS) score were collected retrospectively...
April 22, 2019: Neuropediatrics
https://read.qxmd.com/read/31009954/a-hemimotor-deficit-in-an-18-month-old-boy-revealing-acute-myelitis
#2
Clémentine Gelebart, Elise Sacaze, Sylviane Peudenier, Olivier Legeas, Juliette Ropars
No abstract text is available yet for this article.
April 22, 2019: Neuropediatrics
https://read.qxmd.com/read/30965367/bright-spotty-lesions-in-the-myelon-a-hallmark-of-aqp-4-positive-neuromyelitis-optica-spectrum-disorders
#3
Emanuela Claudia Turco, Francesca Greco, Francesca Ormitti, Francesco Pisani
No abstract text is available yet for this article.
April 9, 2019: Neuropediatrics
https://read.qxmd.com/read/30939602/a-de-novo-dominant-negative-mutation-in-dnm1l-causes-sudden-onset-status-epilepticus-with-subsequent-epileptic-encephalopathy
#4
S J Schmid, M Wagner, C Goetz, C Makowski, P Freisinger, S Berweck, V Mall, S Burdach, H Juenger
Mitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome...
April 2, 2019: Neuropediatrics
https://read.qxmd.com/read/30939601/monocyte-chemoattractant-protein-mcp-1-in-rotavirus-associated-white-matter-injury-in-newborns
#5
Jung Sook Yeom, Jae-Young Jo, Ji Sook Park, Young-Soo Kim, Ju-Young Chung, Tae-Hee Han, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn, Chan-Hoo Park
Recent reports have suggested an association between rotavirus infection and a distinctive pattern of white matter injury (WMI) in neonates with seizures; however, the connection between the two is not fully understood. To evaluate the underlying mechanism, we profiled and compared eight cytokines (IL [interleukin]-1 β , IL-6, IL-8, IL-10, IFN- γ [interferon- γ ], MCP-1 [monocyte chemoattractant protein-1], MIP-1 β [macrophage inflammatory protein-1 β ], and TNF- α [tumor necrosis factor- α ]) in the cerebrospinal fluid (CSF) of 33 neonates with seizures who had no other well-known causes of seizures and 13 control patients (rotavirus-induced gastroenteritis but without seizures)...
April 2, 2019: Neuropediatrics
https://read.qxmd.com/read/30939600/high-incidence-of-renal-stones-in-severely-disabled-children-with-epilepsy-treated-with-topiramate
#6
Nobutsune Ishikawa, Hiroo Tani, Yoshiyuki Kobayashi, Akira Kato, Masao Kobayashi
PURPOSE:  This study was aimed to assess the accurate incidence of renal stones in severely disabled children treated with topiramate (TPM). METHOD:  We reviewed the medical records of severely disabled children with epilepsy under 15 years old who underwent radiological examinations to investigate urinary stones. The study enrolled 26 patients who were divided into two groups. One group had been treated with TPM for at least 1 year and the other had not been treated with TPM, zonisamide, acetazolamide, or other diuretic drugs...
April 2, 2019: Neuropediatrics
https://read.qxmd.com/read/30939599/neurodevelopmental-disorders-and-array-based-comparative-genomic-hybridization-sensitivity-and-specificity-using-a-criteria-checklist-for-genetic-test-performance
#7
Alfonso Amado-Puentes, Alfredo Reparaz-Andrade, Aida Del Campo-García, Manuel Óscar Blanco-Barca, Ángel Salgado-Barreira, Víctor Del Campo-Pérez, José Ramón Fernández-Lorenzo
BACKGROUND:  Array-based comparative genomic hybridization (aCGH) is a molecular analysis method for identifying chromosomal anomalies or copy number variants (CNVs) correlating with clinical phenotypes. The aim of our study was to identify the most significant clinical variables associated with a positive outcome of aCGH analyses to develop a simple predictive clinical score. METHODS:  We conducted a cross-sectional study in a tertiary center comparing the genotype and phenotype of the cases...
April 2, 2019: Neuropediatrics
https://read.qxmd.com/read/30939598/cranial-neuroimaging-and-clinical-neuroanatomy
#8
Eugen Boltshauser
No abstract text is available yet for this article.
April 2, 2019: Neuropediatrics
https://read.qxmd.com/read/30913570/two-cases-of-pediatric-aqp4-antibody-positive-neuromyelitis-optica-spectrum-disorder-successfully-treated-with-tocilizumab
#9
Markus Breu, Sarah Glatter, Romana Höftberger, Michael Freilinger, Karl Kircher, Gregor Kasprian, Rainer Seidl, Barbara Kornek
B cell depletion with the anti-CD20-antibody rituximab is widely considered treatment of choice for long-term immunotherapy in aquaporin-4 (AQP4)-antibody positive neuromyelitis optica spectrum disorder (NMOSD). However, up to 30% of patients suffer from relapses despite complete B cell depletion. In these cases, the IL6 (interleukin-6)-receptor blocking antibody tocilizumab has been suggested as an alternative. We report two female adolescents with AQP4-antibody positive NMOSD who relapsed under rituximab treatment and clinically stabilized after switching to monthly administrations of tocilizumab...
March 26, 2019: Neuropediatrics
https://read.qxmd.com/read/30913569/symmetrical-thalamic-lesions-in-the-newborn-a-case-series
#10
T Pols, L S de Vries, A Soltirovska Salamon, P G J Nikkels, K D Lichtenbelt, S M Mulder-de Tollenaer, G van Wezel-Meijler
Although bilateral injury to the thalami is often seen in (near)term infants with hypoxic ischemic encephalopathy (HIE), symmetrical thalamic lesions (STL) is a different, very rare condition, seen both in full-term and preterm infants often after an antenatal insult, although the history is not always clear. These lesions are usually first detected using cranial ultrasound (cUS). They may not always be seen on the first (admission) scan, but become apparent in the course of the 1st week after birth. Clinically, these infants present with hypo- or hypertonia, absence of sucking and swallowing reflexes, and they may have contractures and facial diplegia...
March 26, 2019: Neuropediatrics
https://read.qxmd.com/read/30913568/clinical-pathways-in-neuro-ophthalmology
#11
Eugen Boltshauser
No abstract text is available yet for this article.
March 26, 2019: Neuropediatrics
https://read.qxmd.com/read/30875701/-restricted-diffusion-within-the-splenium-of-the-corpus-callosum-a-potential-pitfall-in-young-infants-on-3t-imaging-and-marker-of-normal-myelin-maturation
#12
Ai Peng Tan, Yi Ting Lim
PURPOSE:  To determine the prevalence of "restricted diffusion" within the splenium of the corpus callosum (SOCC) on 3 Tesla (T) and 1.5T imaging systems and to establish the contribution of myelin maturation to the presence of "restricted diffusion" within the SOCC. MATERIALS AND METHODS: The imaging database at our hospital was queried to build three cohorts of patients: (1) age < 4 months, with magnetic resonance imaging (MRI) scans done on a 3T system; (2) age < 4 months, with MRI scans done on a 1...
March 15, 2019: Neuropediatrics
https://read.qxmd.com/read/30875700/positive-short-term-effect-of-low-dose-rosuvastatin-in-a-patient-with-syngap1-associated-epilepsy
#13
Gerhard Kluger, Celina von Stülpnagel-Steinbeis, Stephan Arnold, Kirsten Eschermann, Till Hartlieb
No abstract text is available yet for this article.
March 15, 2019: Neuropediatrics
https://read.qxmd.com/read/30875699/aicardi-s-diseases-of-the-nervous-system-in-childhood
#14
Eugen Boltshauser
No abstract text is available yet for this article.
March 15, 2019: Neuropediatrics
https://read.qxmd.com/read/30847875/radcases-plus-q-a-neuro-imaging
#15
Eugen Boltshauser
No abstract text is available yet for this article.
March 7, 2019: Neuropediatrics
https://read.qxmd.com/read/30822793/appearance-of-fcd-type-ii-changes-with-brain-maturation-in-early-childhood
#16
Puneet Jain, Robyn Whitney, Elysa Widjaja
No abstract text is available yet for this article.
March 1, 2019: Neuropediatrics
https://read.qxmd.com/read/30791064/hypomyelinating-leukodystrophy-with-spinal-cord-involvement-caused-by-a-novel-variant-in-rars-report-of-two-unrelated-patients
#17
Zahra Rezaei, Sareh Hosseinpour, Mahmoud Reza Ashrafi, Nejat Mahdieh, Houman Alizadeh, Masoud Mohammadpour, Nahideh Khosroshahi, Man Amanat, Ali Reza Tavasoli
Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in genes encoding aminoacyl tRNA (transfer ribonucleic acid) synthetase enzymes (aaRSs) are recently identified as the etiology of some leukodystrophies. Herein, we described two unrelated children referred to Children's Medical Center, Tehran, Iran, with developmental delay, nystagmus, seizures, psuedo-bulbar palsy and dystonia. Whole exome sequencing (WES) in both patients identified a homozygous (c...
February 21, 2019: Neuropediatrics
https://read.qxmd.com/read/30722076/is-asymmetry-of-the-pons-associated-with-hand-function-and-manual-ability-after-arterial-ischemic-stroke-in-children
#18
Nedelina Slavova, Max Philipp Shojai, Regula Everts, Roland Wiest, Maja Steinlin, Sebastian Grunt
AIM:  This study was designed to investigate how the asymmetry of the brain stem is related to hand function and manual ability after arterial ischemic stroke (AIS) diagnosed during childhood. METHOD:  Patients diagnosed with AIS during childhood (> 5 years old, diagnosis > 2 years before recruitment) and typically developing peers were recruited by the Swiss Neuropediatric Stroke Registry. Brainstem cross-sectional areas of each side at the level of the pons were measured...
February 5, 2019: Neuropediatrics
https://read.qxmd.com/read/30695801/the-persistent-generalized-muscle-contraction-in-siblings-with-molybdenum-cofactor-deficiency-type-a
#19
Ayumi Yoshimura, Tetsuya Kibe, Hiroshi Hasegawa, Kimiyoshi Ichida, Eriko Koshimizu, Satoko Miyatake, Naomichi Matsumoto, Kenji Yokochi
Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive metabolic disease with severe neurological symptoms. Most disease-causing mutations are found in the MOCS1 gene, corresponding to MoCD type A (MoCD-A). There have been few reports describing the long-term detailed neurological features with MoCD-A because most patients do not survive childhood. We describe the clinical, radiologic, biochemical, and genetic data of two patients (female siblings aged 26 and 22 years) with MoCD-A. Both patients presented with feeding difficulties, neurological deterioration, and persistent generalized muscle contraction which can be easily confused with status dystonicus...
January 29, 2019: Neuropediatrics
https://read.qxmd.com/read/30695800/postnatal-paraclinical-parameters-associated-to-occurrence-of-intracerebral-hemorrhage-in-preterm-infants
#20
Renée Lampe, Varvara Turova, Nikolai Botkin, Laura Eckardt, Ursula Felderhoff-Müser, Esther Rieger-Fackeldey, Ana Alves-Pinto, Andrey Kovtanyuk, Irina Sidorenko
Intracerebral hemorrhage (ICH) is the most frequent complication in postnatal development of preterm infants. The purpose of the present work is the statistical evaluation of seven standard paraclinical parameters and their association to the development of ICH. Clinical records of 265 preterm infants with gestational age (GA) 23 to 30 weeks were analyzed. According to ICH status, patients were divided into control (without ICH) and affected (with ICH) groups. Mean values of paraclinical parameters at each week of gestation were compared...
January 29, 2019: Neuropediatrics
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