A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.

abstract：:Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndro...

journal_title：Journal of child neurology

authors： Grosso S,Pucci L,Farnetani M,Di Bartolo RM,Galimberti D,Mostardini R,Anichini C,Balestri M,Morgese G,Balestri P

更新日期：2004-08-01 00:00:00

abstract：:To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of information: (1) physical examinations; (2) laboratory data and family questionnaire data of affected individuals; and (3) literature review. The questionnaire data describes a generally normal...

journal_title：Journal of child neurology

authors： Zori RT,Hendrickson J,Woolven S,Whidden EM,Gray B,Williams CA

更新日期：1992-07-01 00:00:00

abstract：:We assessed pediatrician awareness of the parameter ''Evaluating the first non-febrile seizure in children'' and how the concepts of this parameter were incorporated into practice. Although most reported caring for children with seizures, 60% were not aware of the practice parameter. When given the clinical scenario o...

journal_title：Journal of child neurology

authors： Bale JF Jr,Caplin DA,Bruse JD,Folland D

更新日期：2009-12-01 00:00:00

abstract：:The aim of this study is to investigate the efficacy and tolerability of topiramate in a large number of children with West syndrome. The authors performed a retrospective, questionnaire-based data collection in specialized epilepsy units in Germany. Patients with West syndrome and hypsarrhythmia could be included if ...

journal_title：Journal of child neurology

authors： Korinthenberg R,Schreiner A

更新日期：2007-03-01 00:00:00

abstract：:Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a ...

journal_title：Journal of child neurology

authors： Falsaperla R,Romeo G,Di Giorgio A,Pavone P,Parano E,Connolly AM

更新日期：2001-12-01 00:00:00

abstract：:It was recently postulated that because increased genetic load and increased parental age are both purportedly associated with the risk to develop an autism spectrum disorder, there must be a linkage between increasing genetic load and increasing parental age in autism spectrum disorder pathogenesis. The present study...

journal_title：Journal of child neurology

authors： Geier DA,Hooker BS,Kern JK,Sykes LK,Geier MR

更新日期：2014-08-27 00:00:00

abstract：:Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional...

journal_title：Journal of child neurology

authors： Lunardini F,Bertucco M,Casellato C,Bhanpuri N,Pedrocchi A,Sanger TD

更新日期：2015-10-01 00:00:00

abstract：:The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together, they represent the most prevalent class of childhood neurodegenerative disease. The neuronal ceroid lipofuscinoses encomp...

journal_title：Journal of child neurology

authors： Mink JW,Augustine EF,Adams HR,Marshall FJ,Kwon JM

更新日期：2013-09-01 00:00:00

abstract：:The Baby Doe rules, a set of federal regulations on the treatment of extremely ill infants, went into effect in 1985. Some scholars have argued that these rules are inappropriate given that they fail to pay attention to the patient's suffering. Instead, researchers suggest that, when dealing with a severely impaired i...

journal_title：Journal of child neurology

authors： Weisleder P

更新日期：2007-06-01 00:00:00

abstract：:To determine the plasma baclofen concentrations of children undergoing continuous intrathecal baclofen infusion for treatment of cerebral spasticity, we assayed plasma samples from six children, 8 to 18 years of age, who were receiving intrathecal baclofen at constant rates of 77 to 400 micrograms/day. Plasma levels w...

journal_title：Journal of child neurology

authors： Albright AL,Shultz BL

更新日期：1999-06-01 00:00:00

abstract：:In this study the authors investigated whether dysregulation of the fragile X mental retardation protein and mammalian target of rapamycin signaling cascade can have a role in the pathogenesis of encephalopathy of prematurity following perinatal hypoxia-ischemia. The authors examined the brain tissue of newborns with ...

journal_title：Journal of child neurology

authors： Lechpammer M,Wintermark P,Merry KM,Jackson MC,Jantzie LL,Jensen FE

更新日期：2016-03-01 00:00:00

abstract：:Behçet disease is a systemic vasculitis of unknown etiology that can affect the neurologic system. Neuro-Behçet disease is not well defined in children and adolescents, and the diagnosis is difficult to make in this population as they often present with insufficient symptoms to meet diagnostic criteria. Psychiatric sy...

journal_title：Journal of child neurology

authors： Patel P,Steinschneider M,Boneparth A,Lantos G

更新日期：2014-09-01 00:00:00

abstract：:The epilepsies in childhood are classified as primary (or idiopathic) and secondary (or symptomatic). The primary epilepsies account for two thirds of all childhood epilepsies and are presumed to be genetically determined. In the remaining one third of cases, a neuropathologic lesion can be identified. This paper summ...

journal_title：Journal of child neurology

authors： Armstrong DD,Mizrahi EM

更新日期：1998-08-01 00:00:00

abstract：:Six girls between 2 years 9 months and 15 years of age with Rett syndrome were thoroughly investigated. Blood ammonia levels varied between 42 and 123 mumol/L, and serum lactate concentration was slightly elevated in two girls. Electroencephalograms showed a dysrhythmic pattern during wakefulness; during drowsiness an...

journal_title：Journal of child neurology

authors： Eeg-Olofsson O,al-Zuhair AG,Teebi AS,Daoud AS,Zaki M,Besisso MS,Al-Essa MM

更新日期：1990-07-01 00:00:00

abstract：:Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are caused through a secondary effect on the mitochondrial DNA. It was thought that the genetic stability of mitochondrial DNA relies on the accuracy of DNA polymerase g...

journal_title：Journal of child neurology

authors： Burusnukul P,de los Reyes EC

更新日期：2009-04-01 00:00:00

abstract：:Computerized neurocognitive testing has become a growing practice across medical populations, but particularly within sports medicine and the management of sports-related concussion. Although traditional neuropsychological measures are solely administered and interpreted by neuropsychologists, computerized cognitive t...

journal_title：Journal of child neurology

authors： De Marco AP,Broshek DK

更新日期：2016-01-01 00:00:00

abstract：:Febrile seizures are the most common form of childhood seizures. The exact mechanism promoting convulsions during a common febrile illness remains unknown, but it is accepted that genetic influences are likely to account for at least some of the cases. Previous studies reported high interleukin-1beta levels in the cer...

journal_title：Journal of child neurology

authors： Haspolat S,Baysal Y,Duman O,Coşkun M,Tosun O,Yeğin O

更新日期：2005-07-01 00:00:00

abstract：:The association between tuberous sclerosis complex and intracranial abnormalities such as hemimegalencephaly, schizencephaly, intracranial arterial aneurysms, and corpus callosum agenesis/dysplasia has been reported in the recent literature. However, the association between tuberous sclerosis complex and bilateral tem...

journal_title：Journal of child neurology

authors： Tatli M,Guzel A

更新日期：2007-06-01 00:00:00

abstract：:The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabo...

journal_title：Journal of child neurology

authors： Shandal V,Veenstra AL,Behen M,Sundaram S,Chugani H

更新日期：2012-01-01 00:00:00

abstract：:Neuron-specific enolase, a marker for neuronal injury, is elevated following seizures in adults, but relatively few data exist on postictal neuron-specific enolase levels in children. This study measured cerebrospinal fluid (CSF) neuron-specific enolase levels after seizures in 49 consecutive pediatric patients and in...

journal_title：Journal of child neurology

authors： Wong M,Ess K,Landt M

更新日期：2002-04-01 00:00:00

abstract：:This study aimed to identify the indications in which electroencephalography in the pediatric emergency department is most useful. We retrospectively reviewed the influence that the results of the emergent electroencephalogram had on the eventual disposition of patients at our pediatric emergency department. Sixty-eig...

journal_title：Journal of child neurology

authors： Fernández IS,Loddenkemper T,Datta A,Kothare S,Riviello JJ Jr,Rotenberg A

更新日期：2014-04-01 00:00:00

abstract：:The aim of this study was to clarify the relationship between neurologic findings and outcome of patients with West syndrome, focusing on the popliteal angle. The complete neurologic examination, including an assessment of the popliteal angle and muscle tone, was performed on 45 patients with West syndrome. A tight po...

journal_title：Journal of child neurology

authors： Okumura A,Kato T,Sei Y,Suzuki T,Morishita Y,Watanabe K

更新日期：2006-10-01 00:00:00

abstract：:From February 2006 to March 2008, 42 pregnant women homozygous for the 677CT-methylenetetrahydrofolate reductase (MTHFR) allele were recruited in our obstetrics service for pregnancy at risk. All had antithrombotic prophylaxis with low-dose aspirin and/or low-molecular-weight heparin, supplemented with folic acid. In ...

journal_title：Journal of child neurology

authors： Pogliani L,Muggiasca L,Arrigoni L,Rossi E,Zuccotti G

更新日期：2010-06-01 00:00:00

abstract：:Intracranial tuberculoma in infants are a rare occurrence. We report a 7-month-old male infant presenting to our tertiary care referral center with complaints of global developmental delay and right hemiparesis for 3 months. Radiologic imaging was suggestive of large left frontoinsular space-occupying lesion with init...

journal_title：Journal of child neurology

authors： Raheja A,Sinha S,Sable MN,Sharma MC,Sharma BS

更新日期：2015-03-01 00:00:00

abstract：:Congenital adrenal hyperplasia could provide a promising model for the study of the effects of hormones on cognition. The aim of this study was to assess sexual dimorphic abilities related to oral language, spatial abilities, and verbal fluency and to determine the existence of learning disabilities in 11 congenital g...

journal_title：Journal of child neurology

authors： Inozemtseva O,Matute E,Juárez J

更新日期：2008-08-01 00:00:00

abstract：:This study was performed to determine the utility of 99mTc-hexamethylpropylenamine oxime (HMPAO) brain single photon emission computed tomography (SPECT) in evaluating patients with childhood absence epilepsy. Twenty-three patients (13 female, 10 male), aged 7 to 15 years (mean age 10.3 +/- 2.2), were studied. All pat...

journal_title：Journal of child neurology

authors： Kapucu LO,Serdaroğlu A,Okuyaz C,Köse G,Gücüyener K

更新日期：2003-08-01 00:00:00

abstract：:Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seiz...

journal_title：Journal of child neurology

authors： Keith J,Fabian VA,Walsh P,Sinniah R,Robitaille Y

更新日期：2011-04-01 00:00:00

abstract：:Phantosmia is an infrequently reported and poorly understood qualitative olfactory disorder characterized by the perception of a frequently unpleasant odor in the absence of an odorant stimulus. Peripheral phantosmia is hypothesized to involve abnormally active olfactory receptor neurons while central phantosmia is th...

journal_title：Journal of child neurology

authors： Yang JC,Khakoo Y,Lightner DD,Wolden SL

更新日期：2013-06-01 00:00:00

abstract：:The authors provide an update on most issues related to biology, diagnosis, and treatment of children with ependymoma based on a literature review. Ependymoma is the third most common brain tumor in children and overall survival ranges from 24% to 75% at 5 years. The extent of surgical resection remains the principal ...

journal_title：Journal of child neurology

authors： Zacharoulis S,Moreno L

更新日期：2009-11-01 00:00:00

abstract：:Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...

journal_title：Journal of child neurology

authors： Ronen GM,Rosenbaum MP,Streiner DL

更新日期：2000-12-01 00:00:00