Signal transduction for clinicians: why should we care?

abstract：BACKGROUND:The juvenile form of GM1 gangliosidosis lacks specific physical findings and thus is often a diagnostic challenge for clinicians. T2 hypodensity in the globus pallidus is a characteristic radiographic sign of neurodegeneration with iron accumulation in the brain that is observed in GM1 gangliosidosis, but th...

journal_title：Pediatric neurology

authors： Takenouchi T,Kosaki R,Nakabayashi K,Hata K,Takahashi T,Kosaki K

更新日期：2015-02-01 00:00:00

abstract：:"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analy...

journal_title：Pediatric neurology

authors： Dixit A,Chow G,Sarkar A

更新日期：2011-11-01 00:00:00

abstract：:Transcranial magnetic stimulation and motor performance tests were used to study the correlation between corticospinal maturation and actual motor performance in a group of young school children (n = 10, mean age = 7 years, age range = 6-9 years). The results were compared with normal adults (n = 10, mean age = 24 yea...

journal_title：Pediatric neurology

authors： Heinen F,Fietzek UM,Berweck S,Hufschmidt A,Deuschl G,Korinthenberg R

更新日期：1998-09-01 00:00:00

abstract：:The causes of sixth nerve palsies in 75 children, all of whom had undergone modern neuroimaging, were reviewed. Neoplasms or their neurosurgical removal was the most common cause (n = 34 [45%]); elevated intracranial pressure (nontumor) (15%), traumatic (12%), congenital (11%), inflammatory (7%), miscellaneous (5%), a...

journal_title：Pediatric neurology

authors： Lee MS,Galetta SL,Volpe NJ,Liu GT

更新日期：1999-01-01 00:00:00

abstract：:This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). The authors reviewed 10 Leigh syndrome patients, including ours, with T8993C. Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8...

journal_title：Pediatric neurology

authors： Fujii T,Hattori H,Higuchi Y,Tsuji M,Mitsuyoshi I

更新日期：1998-03-01 00:00:00

abstract：:Zonisamide is an antiepileptic drug developed and first marketed in Japan in 1989. Cases of oligohydrosis, characterized by deficient production and secretion of sweat, were reported in children treated with zonisamide in Japan during development and in the postmarketing period. Zonisamide was approved in the United S...

journal_title：Pediatric neurology

authors： Knudsen JF,Thambi LR,Kapcala LP,Racoosin JA

更新日期：2003-03-01 00:00:00

abstract：:Children with Rett syndrome manifest profound impairments in their ability to speak and use their hands, and exhibit a very limited repertoire of abilities to express themselves, to be neuropsychologically tested, and consequently to be understood. This study examined nonverbal cognitive abilities and visual preferenc...

journal_title：Pediatric neurology

authors： Djukic A,McDermott MV

更新日期：2012-04-01 00:00:00

abstract：:Planning strategies to encourage students to pursue a career in pediatric neurology requires assessment of their attitudes and career choices. A structured 30-item questionnaire was designed to examine students' attitudes toward pediatric neurology. In the study, 161 final-year medical students (1999-2000), 20-26 year...

journal_title：Pediatric neurology

authors： Jan MM,Fida NM

更新日期：2002-08-01 00:00:00

abstract：:In this mixed-methods study, utilization data for disease-modifying therapies were reviewed to determine the adherence rate among our pediatric multiple sclerosis cohort. Adolescents were interviewed to explore their experiences with multiple sclerosis and the impact of peer relationships on adherence to treatment. Se...

journal_title：Pediatric neurology

authors： Thannhauser JE,Mah JK,Metz LM

更新日期：2009-08-01 00:00:00

abstract：:A morphometric magnetic resonance imaging study was performed, and the results were compared among three groups (group 1, periventricular leukomalacia patients with West syndrome; group 2, periventricular leukomalacia patients without West syndrome; and group 3, control patients) to clarify the characteristics and cau...

journal_title：Pediatric neurology

authors： Ozawa H,Hashimoto T,Endo T,Kato T,Furusho J,Suzuki Y,Takada E,Ogawa Y,Takashima S

更新日期：1998-11-01 00:00:00

abstract：:A patient with angiodysgenetic necrotizing encephalopathy or diffuse meningocerebral angiomatosis complicated by intraventricular hemorrhage, posthemorrhagic hydrocephalus, and signs of heart failure is reported. The hydrocephalus and cardiomegaly were diagnosed by fetal ultrasonography. Based on these pathologic find...

journal_title：Pediatric neurology

authors： Arvanitis DL,Apostolidou IA,Routsis PV,Biskini EI,Kalpoyannis NS

更新日期：1996-02-01 00:00:00

abstract：:Neurophysiologic intraoperative monitoring, using somatosensory, brainstem auditory, and visual evoked potentials, transcranial electric motor stimulation, and electromyography, is typically used during complex surgeries involving the motor and sensory cortex, brainstem, cranial nerves, spinal cord, nerve root, periph...

journal_title：Pediatric neurology

authors： Galloway GM,Zamel K

更新日期：2011-03-01 00:00:00

abstract：:The details of 328 patients with bacterial meningitis, admitted from 1984 through 1993, were obtained from 46 departments of pediatrics of large hospitals through questionnaires. The incidence rate per 100,000 child-years was 2.32, being higher in children aged 0-4 years (rate, 7.22) than 5-15 years (rate, 0.49). The ...

journal_title：Pediatric neurology

authors： Ishikawa T,Asano Y,Morishima T,Nagashima M,Sobue G,Watanabe K,Yamaguchi H

更新日期：1996-04-01 00:00:00

abstract：:Central nervous system tumors occur considerably less often in the fetus and neonate than in the older child. They are not entirely the same as those present later in life. Their location, biologic behavior, response to therapy, and histologic types are different. Fetal and neonatal brain tumors (n = 250) were collect...

journal_title：Pediatric neurology

authors： Isaacs H Jr

更新日期：2002-11-01 00:00:00

abstract：BACKGROUND:Brain radiotherapy plays a central role in the treatment of certain types of childhood primary central nervous system tumors. However, damage to surrounding normal brain tissue causes different acute and chronic medical and neurological complications. Despite the expected increase in number of childhood prim...

journal_title：Pediatric neurology

authors： Passos J,Nzwalo H,Marques J,Azevedo A,Netto E,Nunes S,Salgado D

更新日期：2015-09-01 00:00:00

abstract：:Tourette syndrome is a neurologic disorder characterized by both motor and vocal tics. Recently, two variants, including a single-base deletion resulting in a truncated protein and a 3'-untranslated-region variant altering a binding site for micro-RNA in the Slit and Trk-like 1 gene, were found to be a genetic cause o...

journal_title：Pediatric neurology

authors： Chou IC,Wan L,Liu SC,Tsai CH,Tsai FJ

更新日期：2007-12-01 00:00:00

abstract：:Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarth...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Triantafyllou P,Gombakis NP,Vargiami E,Tsantali C,Michelakaki E

更新日期：2003-09-01 00:00:00

abstract：BACKGROUND:Guillain-Barré syndrome is the most common cause of acute flaccid paresis in childhood. Few validated large-scale population-based data are available concerning pediatric Guillain-Barré syndrome, including incidence, risk factors, and initial clinical characteristics. METHODS:In the Danish National Patient ...

journal_title：Pediatric neurology

authors： Levison LS,Thomsen RW,Markvardsen LK,Christensen DH,Sindrup SH,Andersen H

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:Pediatric critical care survivors often suffer persisting multisystem health problems and are left with treatment needs that go unmet due to limits in current care models. We proposed that integration of neuropsychology into neurocritical care follow-up provides incremental benefit to the identification and ...

journal_title：Pediatric neurology

authors： Dodd JN,Hall TA,Guilliams K,Guerriero RM,Wagner A,Malone S,Williams CN,Hartman ME,Piantino J

更新日期：2018-12-01 00:00:00

abstract：BACKGROUND:To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS:We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroer...

journal_title：Pediatric neurology

authors： Nelson GR,Bale JF,Kerr LM

更新日期：2017-01-01 00:00:00

abstract：:Insufficient nutrition is known to lead to disturbances in postnatal myelin formation. This study aims to demonstrate that early myelination is altered in human twin pregnancies. Five brains of twins with a symmetric blood supply and three brains of twins with chronic fetal-fetal transfusion syndrome (one hypervolemic...

journal_title：Pediatric neurology

authors： Ulfig N,Nickel J,Saretzki U

更新日期：1998-10-01 00:00:00

abstract：:The aim of this study was to evaluate the added utility of gadolinium administration in the magnetic resonance imaging evaluation of developmental delay in children less than 2 years of age. A computerized retrospective study identified all brain magnetic resonance imaging examinations using gadolinium performed at ou...

journal_title：Pediatric neurology

authors： Foerster BR,Ksar J,Petrou M,Eldevik PO,Maly PV,Carlson MD,Sundgren PC

更新日期：2006-08-01 00:00:00

abstract：:The effects of vagal nerve stimulation on sleep-related breathing have not been well-described in children. Vagal nerve stimulation was reported to cause decreases in airflow during sleep, although most studies reported this condition to be clinically insignificant. We present a retrospective case series of nine child...

journal_title：Pediatric neurology

authors： Hsieh T,Chen M,McAfee A,Kifle Y

更新日期：2008-02-01 00:00:00

abstract：BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...

journal_title：Pediatric neurology

authors： Horst DM,Ruess L,Rusin JA,Bartholomew DW

更新日期：2014-11-01 00:00:00

abstract：:Vanishing white matter disease is a chronically progressive leukodystrophy with periods of acute deterioration after head trauma and febrile illness. This report describes a child with genetically and clinically confirmed vanishing white matter disease exhibiting frequent episodes of right-sided hemiplegia, aphasia, a...

journal_title：Pediatric neurology

authors： Ramaswamy V,Chan AK,Kolski HK

更新日期：2006-07-01 00:00:00

abstract：INTRODUCTION:In this study, we aimed to determine the serum, urine, and saliva levels of acyl ghrelin, des-acyl ghrelin, and obestatin in the newly diagnosed idiopathic generalized pediatric epilepsy patients in the pretreatment period and in the third month of valproic acid. MATERIAL AND METHODS:Thirty pre- and post-...

journal_title：Pediatric neurology

authors： Taskin E,Atli B,Kiliç M,Sari Y,Aydin S

更新日期：2014-09-01 00:00:00

abstract：:The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these syndromes are multisystemic, progressive disorders of unknown etiology. Tissues deriving significant energy through oxidative metabolism (notably brain and cardiac muscle) are most often affected and in...

journal_title：Pediatric neurology

authors： Gibson KM,Elpeleg ON,Jakobs C,Costeff H,Kelley RI

更新日期：1993-03-01 00:00:00

abstract：:To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Austr...

journal_title：Pediatric neurology

authors： Rose LV,Rose NT,Elder JE,Thorburn DR,Boneh A

更新日期：2008-06-01 00:00:00

abstract：:The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical...

journal_title：Pediatric neurology

authors： Uziel G,Garavaglia B,Ciceri E,Moroni I,Rimoldi M

更新日期：1995-11-01 00:00:00

abstract：:We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all cases. These pathol...

journal_title：Pediatric neurology

authors： Fadic R,Waclawik AJ,Lewandoski PJ,Lotz BP

更新日期：1997-01-01 00:00:00