Valuation of Quality of Life in Pediatric Disability in a Developing Country.

abstract：:A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders. We describe two sisters affected by mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome in whom DNA anal...

journal_title：Journal of child neurology

authors： Balestri P,Grosso S

更新日期：2000-11-01 00:00:00

abstract：:Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipa...

journal_title：Journal of child neurology

authors： Bindu PS,Taly AB,Christopher R,BharatKumar PV,Panda S,Netravathi M,Ravishankar S,Mahadevan A,Yasha TC,Gayathri N

更新日期：2007-12-01 00:00:00

abstract：:We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We hav...

journal_title：Journal of child neurology

authors： Pitter JH,French JH,PeBenito R,Hotson GC

更新日期：1990-07-01 00:00:00

abstract：:The authors describe a pediatric patient with repaired hypoplastic left heart syndrome developing protein-losing enteropathy, hypocalcemia, vitamin D deficiency, and hemichorea. After correction of nutritional vitamin D deficiency with calcium and vitamin D supplementation, the chorea resolved. Hypoalbuminemia also im...

journal_title：Journal of child neurology

authors： Fernandez R,Ashraf A,Dure LS

更新日期：2007-01-01 00:00:00

abstract：:Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevati...

journal_title：Journal of child neurology

authors： van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken J

更新日期：1999-11-01 00:00:00

abstract：:To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies we...

journal_title：Journal of child neurology

authors： Garcia ML,Ty EB,Taban M,David Rothner A,Rogers D,Traboulsi EI

更新日期：2006-11-01 00:00:00

abstract：:We report two children with transient myasthenia gravis preceded by viral illnesses. The first is a 5-year-old boy who developed oculobulbar weakness 2 weeks following a varicella-zoster infection. The second is a 4-year-old boy who developed facial diplegia and dysarthria several weeks following a viral pharyngitis. ...

journal_title：Journal of child neurology

authors： Felice KJ,DiMario FJ,Conway SR

更新日期：2005-05-01 00:00:00

abstract：:In industrialized nations with widespread immunization programs, Guillain-Barré syndrome is the most common cause of acute paralytic illness in children and adults. The incidence of the disease has been estimated to range from 0.5 to 1.5 in 100,000 in individuals less than 18 years of age. Approximately 15% of childre...

journal_title：Journal of child neurology

authors： Sladky JT

更新日期：2004-03-01 00:00:00

abstract：:Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of macrocephaly as about 50%, and report that macrocephaly in patients with neurofibromatosis-1 does not appear to be relat...

journal_title：Journal of child neurology

authors： Cutting LE,Koth CW,Burnette CP,Abrams MT,Kaufmann WE,Denckla MB

更新日期：2000-03-01 00:00:00

abstract：:Given the increased survival rates in patients with pediatric central nervous system tumors, late effects such as treatment- and/or illness-related neurologic sequelae as well as neuropsychological deficits and social difficulties have moved into focus in follow-up care. In order to provide personalized treatment reco...

journal_title：Journal of child neurology

authors： Pletschko T,Felnhofer A,Schwarzinger A,Weiler L,Slavc I,Leiss U

更新日期：2017-01-01 00:00:00

abstract：:Although much attention has been focused on the neurological sequelae of the hereditary ataxias, patients with these conditions also may develop cardiac complications that represent a significant cause of disability and even death. In this article, the authors describe the hereditary ataxias with known cardiac involve...

journal_title：Journal of child neurology

authors： Moore S,Raman SV

更新日期：2012-09-01 00:00:00

abstract：:We evaluated the neuropsychological and neurologic outcome of 15 long-term survivors of posterior fossa tumors who were treated between 1970 and 1984 with cranial irradiation (n = 15) and surgery (n = 14). The interval between diagnosis and evaluation ranged from 4 to 20 years (median = 10 years). Earlier age at diagn...

journal_title：Journal of child neurology

authors： Chapman CA,Waber DP,Bernstein JH,Pomeroy SL,LaVally B,Sallan SE,Tarbell N

更新日期：1995-05-01 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：:The prognosis in infants with brain tumors has historically been very poor. This study reviews 16 infants under the age of 12 months with brain tumors who presented to our institution between 1988 and 1999. The aim was to describe the clinical presentation, diagnosis, and management of these patients and to establish ...

journal_title：Journal of child neurology

authors： Young HK,Johnston H

更新日期：2004-06-01 00:00:00

abstract：:Neurological disorders, including neurodevelopmental disorders, have been identified by the World Health Organization (WHO) as one of the greatest threats to global public health. It is generally believed that these conditions are more prevalent in the developing than the developed world because of multiple known risk...

journal_title：Journal of child neurology

authors： Idro R,Newton C,Kiguli S,Kakooza-Mwesige A

更新日期：2010-04-01 00:00:00

abstract：:Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we rep...

journal_title：Journal of child neurology

authors： Unal S,Kalkanoğlu HS,Kocaefe C,Gucer S,Ozen S,Turanli G,Coskun T

更新日期：2005-01-01 00:00:00

abstract：:This article reports the results of a study on the relationship between cord blood levels of erythropoietin and periventricular leukomalacia. Cord blood was obtained from 19 infants with gestational age between 27 and 32 weeks. Cystic periventricular leukomalacia was seen in 4 of them. Erythropoietin levels were not d...

journal_title：Journal of child neurology

authors： Okumura A,Kidokoro H,Kato T,Kubota T,Hayakawa F,Kuno K,Watanabe K

更新日期：2008-02-01 00:00:00

abstract：:A child suffered from herpes simplex virus encephalitis at the age of 6 months; a late relapse occurred 8.5 years after the initial episode, the longest latency period reported. Radiologic and autopsy findings suggest local reactivation of latent herpes simplex virus as the cause of relapse. All cases of late relapse ...

journal_title：Journal of child neurology

authors： Spiegel R,Miron D,Yodko H,Lumelsky D,Habib A,Horovitz Y

更新日期：2008-03-01 00:00:00

abstract：:The aim of this work was to evaluate the cognitive, language, and motor development, after 18 months of life, of nonmicrocephalic children born to mothers with Zika virus infection during pregnancy. Participants were 37 children aged 18-29 months divided into 2 groups: 17 nonmicrocephalic children born to mothers who ...

journal_title：Journal of child neurology

authors： Gerzson LR,de Almeida CS,Silva JHD,Feitosa MMA,de Oliveira LN,Schuler-Faccini L

更新日期：2020-03-01 00:00:00

abstract：:Young children with sickle cell disease are at risk of brain damage, including stroke. We tested the hypothesis that such patients are also at risk of cognitive impairment. We characterized the cognitive ability of kindergarten children to minimize the effect of disease-related school absence. The Memphis City Schools...

journal_title：Journal of child neurology

authors： Steen RG,Hu XJ,Elliott VE,Miles MA,Jones S,Wang WC

更新日期：2002-02-01 00:00:00

abstract：:Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of ...

journal_title：Journal of child neurology

authors： Armstrong DD

更新日期：2005-09-01 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：:The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...

journal_title：Journal of child neurology

authors： Wasay M,Ajmal S,Taqui AM,Uddin N,Azam I,Husen Y,Nizami SQ

更新日期：2010-05-01 00:00:00

abstract：:A large body of evidence suggests that genetic factors influence liability to many common neurodevelopmental disorders. Examples include Tourette syndrome, attention-deficit hyperactivity disorder, autism, and dyslexia. Characterization of the genetic component of susceptibility to these conditions at a molecular leve...

journal_title：Journal of child neurology

authors： Ryan SG

更新日期：1999-03-01 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：:In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disea...

journal_title：Journal of child neurology

authors： Yoon G,Soman T,Wilson J,George K,Mital S,Dipchand AI,McCabe J,Logan W,Kantor P

更新日期：2012-09-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory fea...

journal_title：Journal of child neurology

authors： Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Ki CS,Kim JW

更新日期：2007-11-01 00:00:00

abstract：:Although long-term follow-up data are available for cases with acute disseminated encephalomyelitis, the findings range widely because of the lack of consistent definitions. Using the International Pediatric Multiple Sclerosis Study Group definitions strictly, we determined the long-term prognosis of children with acu...

journal_title：Journal of child neurology

authors： Mar S,Lenox J,Benzinger T,Brown S,Noetzel M

更新日期：2010-06-01 00:00:00

abstract：:Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Adolescents...

journal_title：Journal of child neurology

authors： Weisbrot DM,Ettinger AB,Gadow KD,Belman AL,MacAllister WS,Milazzo M,Reed ML,Serrano D,Krupp LB

更新日期：2010-02-01 00:00:00

abstract：AIMS:To conduct a review of the literature on the use of botulinum toxin for the treatment of pediatric chronic migraine. METHODS:A review of the literature was performed using EMBASE, PubMed, and Cochrane/Ovid. Using our inclusion and exclusion criteria, we targeted any study, published before April 2020, evaluating ...

journal_title：Journal of child neurology

authors： Marcelo R,Freund B

更新日期：2020-10-01 00:00:00