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Neuropediatrics

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https://www.readbyqxmd.com/read/27880967/early-prenatal-mri-of-cervical-abortive-myelocystocele-case-report-and-review-of-the-literature
#1
Giacomo Talenti, Carlo Giussani, Cecilia Parazzini, Giana Izzo, Francesco Canonico, Patrizia Vergani, Andrea Righini
Cervical abortive myelocistocele is a very rare congenital malformation. In this case report, we describe the prenatal magnetic resonance imaging (MRI) of such entity in a 20-week gestational age fetus, whose imaging features showed to be different from the only other previous prenatal report. We underscored the value of fetal MR for counseling and prognosis, especially when assessing the integrity of the spinal cord.
November 23, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27880966/age-dependency-of-location-of-epileptic-foci-in-continuous-spike-and-waves-during-sleep-a-parallel-to-the-posterior-anterior-trajectory-of-slow-wave-activity
#2
Bigna Katrin Bölsterli Heinzle, Thomas Bast, Hanne Critelli, Reto Huber, Bernhard Schmitt
Background Epileptic encephalopathy with continuous spike-and-waves during sleep (CSWS) occurs during childhood and is characterized by an activation of spike wave complexes during slow wave sleep. The location of epileptic foci is variable, as is etiology. A relationship between the epileptic focus and age has been shown in various focal epilepsies following a posterior-anterior trajectory, and a link to brain maturation has been proposed.We hypothesize that in CSWS, maximal spike wave activity, corresponding to the epileptic focus, is related to age and shows a posterior-anterior evolution...
November 23, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27875839/severe-metabolic-acidosis-and-hepatopathy-due-to-leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate
#3
Elizabeth A Sellars, Tonya Balmakund, Katherine Bosanko, Brandi L Nichols, Stephen G Kahler, Yuri A Zarate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive mitochondrial disease characterized by early onset of neurological symptoms, a biphasic clinical course, and distinctive neuroimaging. Pathogenic variants in the EARS2 gene that encode for mitochondrial glutamyl-tRNA synthetase are responsible for LTBL. Here, we describe the clinical course of an infant diagnosed with an acute crisis of LTBL and severe liver disease. This article illustrates the utility of blood lactate quantification in addition to basic metabolic testing and brain imaging in a child with low tone and poor growth...
November 22, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27780283/sleep-disturbances-in-children-with-rolandic-epilepsy
#4
Maria Gogou, Katerina Haidopoulou, Maria Eboriadou, Evangelos Pavlou
Background The aim of this study is to investigate through polysomnography sleep quality in children with rolandic epilepsy and compare sleep variables between these children and healthy controls. Methods Our study population included 15 children with rolandic epilepsy and 27 healthy children who underwent overnight polysomnography. Parameters about sleep architecture and sleep respiratory events were recorded and analyzed. The level of statistical significance was set at 0.05. Results Patients and controls did not differ in basic epidemiological traits...
October 25, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27769087/the-involvement-of-speed-of-processing-in-story-listening-in-preschool-children-a-functional-and-structural-connectivity-study
#5
Tzipi Horowitz-Kraus, Rola Farah, Mark DiFrancesco, Jennifer Vannest
Story listening in children relies on brain regions supporting speech perception, auditory word recognition, syntax, semantics, and discourse abilities, along with the ability to attend and process information (part of executive functions). Speed-of-processing is an early-developed executive function. We used functional and structural magnetic resonance imaging (MRI) to demonstrate the relationship between story listening and speed-of-processing in preschool-age children. Eighteen participants performed story-listening tasks during MRI scans...
October 21, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27690368/hereditary-dopamine-transporter-deficiency-syndrome-challenges-in-diagnosis-and-treatment
#6
Yilmaz Yildiz, Emine Pektas, Aysegul Tokatli, Goknur Haliloglu
Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by a defect in the neuronal uptake of dopamine. To date, 20 patients are reported in the literature, and we present 2 additional patients with DTDS harboring novel homozygous SLC6A3 gene mutations. Patient A is an 8-month-old male with neonatal-onset hypotonia, who developed orolingual dyskinetic movements and oculogyric crises after 4 months of age, with evolution to status dystonicus episodes. Patient B is a 4-year-old male who also had hypotonia since birth, with additional severe limb contractions and oculogyric crises after the age of 3 months, with a misdiagnosis of epileptic encephalopathy...
September 30, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27656843/neurological-manifestations-in-familial-mediterranean-fever-results-of-22-children-from-a-reference-center-in-kayseri-an-urban-area-in-central-anatolia-turkey
#7
Mehmet Canpolat, Hakan Gumus, Zubeyde Gunduz, Ruhan Dusunsel, Sefer Kumandas, Ayşe Kaçar Bayram, Sibel Yel, Hatice Gamze Poyrazoglu, Kenan Yilmaz, Selim Doganay, Ali Yikilmaz, Munis Dundar, Huseyin Per
Background Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis. Objective The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings. Materials and Methods Our medical records database for 2003 to 2014 was screened retrospectively. In total, 104 patients with FMF were identified, 22 of whom had undergone neurological examination for CNS symptoms. Results Neurological findings included headache in 16 patients (72...
September 22, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27824407/neuroendocrine-disorders-in-children
#8
Eugen Boltshauser
No abstract text is available yet for this article.
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27780282/clinical-images-a-cloudy-skull-hypophosphatasia-as-reason-for-copper-beaten-skull
#9
Martin Poryo, Sascha Meyer, Regina Eymann, Umut Yilmaz, Sogand Nemat, Tilman Rohrer
No abstract text is available yet for this article.
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27701681/long-term-health-outcomes-and-health-related-quality-of-life-in-adolescents-from-a-cohort-of-extremely-premature-infants-born-at-less-than-27-weeks-of-gestation-in-northern-germany
#10
Nele Stahlmann, Nora Eisemann, Ute Thyen, Egbert Herting, Marion Rapp
Background Little is known about the psychosocial development and health-related quality of life (HRQOL) of extremely preterm infants once they are adolescents. Methods The regional population-based study cohort included 90 extremely premature infants (< 27(+0) gestational weeks) born between January 1997 and December 1999 in the German state of Schleswig-Holstein. In addition to a neurological and cognitive Wechsler Intelligence Scale for Children, 4th edition assessment, self- and parent-reported psychological problems (Strengths and Difficulties Questionnaire), and health-related quality of life (KINDL(R)) were obtained and compared with a general population of 3,737 adolescents using data from a German Health Interview and Examination Survey for Children and Adolescents (KiGGS survey 2003-2006, Robert Koch Institute, Germany)...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27676467/developmental-assessment
#11
Christoph Kuenzle
No abstract text is available yet for this article.
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27643693/neurologic-phenotypes-associated-with-mutations-in-trex1-rnaseh2a-rnaseh2b-rnaseh2c-samhd1-adar1-and-ifih1-aicardi-gouti%C3%A3-res-syndrome-and-beyond
#12
John H Livingston, Yanick J Crow
The Aicardi-Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cerebral atrophy, usually associated with a cerebrospinal fluid (CSF) pleocytosis and elevated CSF interferon α activity. It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7)...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27599155/cdkl5-gene-related-epileptic-encephalopathy-in-estonia-four-cases-one-novel-mutation-causing-severe-phenotype-in-a-boy-and-overview-of-the-literature
#13
Stella Lilles, Inga Talvik, Klari Noormets, Ulvi Vaher, Katrin Õunap, Tiia Reimand, Valentin Sander, Pilvi Ilves, Tiina Talvik
Cyclin-dependent kinase-like 5 (CDKL5) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features. To date, only 22 boys have been reported, presenting with far more severe phenotypic features. We report the first cases of CDKL5 gene-related EIEE in Estonia diagnosed using panels of epilepsy-associated genes and describe the phenotype-genotype correlations in three male and one female patient. One of the mutations, identified in a male patient, was a novel de novo hemizygous frameshift mutation (NM_003159...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27574833/hereditary-orotic-aciduria-and-the-excretion-of-orotidine
#14
William L Nyhan, Jon A Gangoiti
Objective Orotic aciduria and deficiency of uridine monophosphate synthetase have been observed in a patient, studied over 10 years, who had no megaloblastic anemia. Excretion of orotic acid and orotidine were 8.24 and 0.52 mmol/mol of creatinine. The ratio of 15.85 differed appreciably from that of 6 patients reported with no megaloblastic anemia. Methods The analysis of orotidine by gas chromotography mass spectrometry was conducted. Conclusion Patients with orotic aciduria with and without megaloblastic anemia cannot be distinguished by ratio of orotic acid to orotidine...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27564080/update-on-leukodystrophies-a-historical-perspective-and-adapted-definition
#15
Sietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, Guy Helman, Sakkubai Naidu, Raphael Schiffmann, Susan Blaser, Adeline Vanderver, Nicole I Wolf, Marjo S van der Knaap
Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the following two decades, magnetic resonance imaging pattern recognition revolutionized the field, allowing the definition of numerous novel leukodystrophies. Their genetic defects were usually identified through genetic linkage studies...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27564079/efficiency-of-a-combination-of-pharmacological-treatment-and-nondrug-interventions-in-childhood-narcolepsy
#16
Ayşe Kacar Bayram, Hüseyin Per, Sevda Ismailoğullari, Mehmet Canpolat, Hakan Gumus, Murat Aksu
Objective Narcolepsy is a chronic sleep disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic and/or hypnopompic hallucinations, and sleep paralysis. It is one of the most important causes of excessive daytime sleepiness in the pediatric population. The aim of this study is to present the clinical and laboratory findings, and treatment results of pediatric patients with narcolepsy. Materials and Methods We studied five unrelated consecutive children with narcolepsy, focusing on clinical and laboratory features, the therapy and outcome over the 33-month follow-up period...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27552027/crossed-pontine-hemiatrophy-associated-with-unilateral-cerebellar-hemorrhage-in-premature-infants
#17
Alessandro Parodi, Luca A Ramenghi, Mariya Malova, Domenico Tortora, Mariasavina Severino, Giovanni Morana, Andrea Rossi
Background Cerebellar hemorrhage is a complication of extreme prematurity with a significant impact on the neurodevelopmental outcome. It has been shown that cerebellar hemorrhage is associated with a reduction in the anteroposterior diameter of the pons on the midline sagittal plane at term-equivalent age, suggesting that cerebellar injury may impair overall pons development in premature infants. Objective This study stemmed from an incidental observation of crossed pontine hemiatrophy in a preterm infant with a history of unilateral massive cerebellar bleeding...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27552026/respiratory-muscle-weakness-and-respiratory-failure-in-pediatric-neuromuscular-disorders-the-value-of-noninvasive-determined-tension-time-index
#18
Florian Stehling, Katharina Alfen, Christian Dohna-Schwake, Uwe Mellies
Background In pediatric neuromuscular disorders (NMD), respiratory muscle weakness parallels respiratory failure. The objectives of this study are (1) to evaluate respiratory muscle capacity in neuromuscular children and (2) to assess the relationship between vital capacity, respiratory muscle performance, and alveolar ventilation during sleep and wakefulness. Methods Inspiratory vital capacity (IVC), peak inspiratory pressure (PIP), mouth occlusion pressure (P0.1), and noninvasive tension-time index of the respiratory muscles (TTImus) were studied in 80 NMD subjects (12...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27522229/epileptic-phenotype-of-two-siblings-with-asparagine-synthesis-deficiency-mimics-neonatal-pyridoxine-dependent-epilepsy
#19
Svetlana Gataullina, Julia Lauer-Zillhardt, Anna Kaminska, Louise Galmiche-Rolland, Nadia Bahi-Buisson, Clément Pontoizeau, Chris Ottolenghi, Olivier Dulac, Catherine Fallet-Bianco
We report the cases of a brother and a sister of nonconsanguineous parents who developed progressive microcephaly and had tremor, irritability, spasticity, startle reflexes, and permanent erratic myoclonus since birth. Focal clonic seizures, status epilepticus, and infantile spasms appeared later, during the first months of life, while erratic myoclonic jerks persisted. Electroencephalogram initially showed multifocal spikes that evolved into modified hypsarrhythmia and then discontinuous activity, evoking the progressive nature of the condition...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27522228/prevalence-of-febrile-seizures-epilepsy-and-other-paroxysmal-attacks-in-a-swedish-cohort-of-4-year-old-children
#20
Gill Nilsson, Elisabeth Fernell, Thomas Arvidsson, Brian Neville, Ingrid Olsson, Christopher Gillberg
A questionnaire about any type of seizures was distributed to parents at the children's 4-year health surveillance at Child Healthcare Centers in Gothenburg, Sweden, to analyze the prevalence of febrile seizures (FS), epilepsy, and other paroxysmal attacks. Parents who reported any kind of seizures in their child were subsequently contacted by telephone to confirm the information given and to invite the child to a clinical assessment. In addition, hospital registers and individual records were checked of the appropriate age group as regards a diagnosis of epilepsy or febrile seizures...
December 2016: Neuropediatrics
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