Association of adenosine deaminase polymorphism with mild mental retardation.

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：:A 16-year-old galactosemic patient, homozygous for the 5.5-kb gene deletion, suffered severe neurologic regression following streptococcal infection. Since the gene deletion includes the promoter of interleukin-11a receptor involved in neuronal apoptosis, we questioned whether this patient had no interleukin-11a recep...

journal_title：Journal of child neurology

authors： Winter GN,Ben-Pazi H

更新日期：2015-06-01 00:00:00

abstract：:Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation (MTHFR TT) has been linked to an increased risk for stroke, coronary artery disease, and migraine headaches. The authors analyzed the potential link between MTHFR 677C>T homozygosity and childhood stroke. A true association might facilita...

journal_title：Journal of child neurology

authors： Alsayouf H,Zamel KM,Heyer GL,Khuhro AL,Kahwash SB,de los Reyes EC

更新日期：2011-03-01 00:00:00

abstract：:This report describes the brain autopsy of a boy who at age 4(1/2) years experienced an episode of fulminant Haemophilus influenzae type b bacterial meningitis, resulting in massive brain destruction and the clinical signs of brain death. However, medical intervention maintained him for an additional two decades. Subs...

journal_title：Journal of child neurology

authors： Repertinger S,Fitzgibbons WP,Omojola MF,Brumback RA

更新日期：2006-07-01 00:00:00

abstract：:Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. Ocular apraxia is most prominent in the early stage of the disease, by contrast, hypoalbuminemia, hypercholesterolemia, and cogniti...

journal_title：Journal of child neurology

authors： D'Arrigo S,Riva D,Bulgheroni S,Chiapparini L,Castellotti B,Gellera C,Pantaleoni C

更新日期：2008-08-01 00:00:00

abstract：:Past, present, and future research activities in Rett syndrome are described. Studies to this point have failed to define a biologic or chemical marker. It is hoped that heightened activity in this unique syndrome will provide guidance for the diagnosis of this disorder, and with it, better understanding. ...

journal_title：Journal of child neurology

authors： Percy AK

更新日期：1988-01-01 00:00:00

abstract：:The purpose of this study was to determine which clinical characteristics correlated with abnormal computed tomographic (CT) scans in epileptic children. Thirty variables were examined. Of these, four variables (presence of inherited or congenital disease, focal motor findings, developmental delay, and early onset of ...

journal_title：Journal of child neurology

authors： Koprowski C,Clancy R

更新日期：1986-04-01 00:00:00

abstract：:Electrographic seizures are common in neonates with hypoxic-ischemic encephalopathy, but detailed data are not available regarding seizure incidence during therapeutic hypothermia. The objective of this prospective study was to determine the incidence and timing of electrographic seizures in term neonates undergoing w...

journal_title：Journal of child neurology

authors： Wusthoff CJ,Dlugos DJ,Gutierrez-Colina A,Wang A,Cook N,Donnelly M,Clancy R,Abend NS

更新日期：2011-06-01 00:00:00

abstract：:Urinary excretion of acetylcarnitine was measured by high-performance liquid chromatography in two experimental groups of valproate-treated rats. In the urine of mature rats weighing 180 to 200 g treated with valproate (500 mg/kg/day), acetylcarnitine levels were higher than those in controls on days 4 and 7, while L-...

journal_title：Journal of child neurology

authors： Murakami K,Sugimoto T,Nishida N,Woo M,Araki A,Kobayashi Y

更新日期：1992-10-01 00:00:00

abstract：:To date, no study has evaluated changes in oral labial angle as preterm infants mature. The main purpose of this study was to document goniometer measurements of the labial angle of the mouth in preterm infants, to assess changes with development, to compare to findings in healthy term infants, and also evaluate oral ...

journal_title：Journal of child neurology

authors： Ince DA,Tugcu AU,Ecevit A,Ciyiltepe M,Kurt A,Abbasoğlu A,Tekindal MA,Tarcan A

更新日期：2015-10-01 00:00:00

abstract：:Acute infantile bilateral striatal necrosis is a rarely described acute neurological syndrome associated with radiological findings. Its etiology and pathogenic mechanisms are unknown. Clinically, the syndrome usually follows respiratory illnesses and presents with an array of neurological findings, including axial at...

journal_title：Journal of child neurology

authors： Zevit N,Steinmetz A,Kornreich L,Straussberg R

更新日期：2007-10-01 00:00:00

abstract：:After an initial patient with cerebral palsy had an apparent dramatic reduction in spasticity when placed on modafinil, a pilot study was undertaken in 10 pediatric patients to confirm or refute the benefit of modafinil in cerebral palsy. Nine of 10 patients completed the 1-month treatment period. The study patients w...

journal_title：Journal of child neurology

authors： Hurst DL,Lajara-Nanson W

更新日期：2002-03-01 00:00:00

abstract：:Retinoblastoma is the most common primary intraocular malignancy of childhood. It typically presents with leukocoria or strabismus. In later stages of the disease, the child may exhibit proptosis, buphthalmos, or hypopyon. The pathognomonic molecular aberration is a loss of function mutation in the RB1 gene on chromos...

journal_title：Journal of child neurology

authors： Ortiz MV,Dunkel IJ

更新日期：2016-02-01 00:00:00

abstract：:To study the cognitive profile and scholastic performance of children with parenchymal neurocysticercosis. A total of 500 children with a diagnosis of neurocysticercosis and epilepsy registered in our pediatric neurocysticercosis clinic between January 1996 and December 2002 were enrolled. Patients were evaluated for ...

journal_title：Journal of child neurology

authors： Singhi P,Malhi P,Suthar R,Deo B,Khandelwal NK

更新日期：2018-06-01 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：OBJECTIVE:We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. ...

journal_title：Journal of child neurology

authors： Armstrong D,Said RR

更新日期：2019-10-01 00:00:00

abstract：:Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had...

journal_title：Journal of child neurology

authors： Graves J,Kraus V,Soares BP,Hess CP,Waubant E

更新日期：2015-01-01 00:00:00

abstract：:We studied eight patients with rigid spine syndrome aged 8 to 20 years at the time of first examination. Muscle weakness, rigid spine, and flexion contracture of elbows and ankles were noted in the first 6 years of age. Radiological study of the cervical spine revealed considerable reduction not only of flexion, but a...

journal_title：Journal of child neurology

authors： Merlini L,Granata C,Ballestrazzi A,Marini ML

更新日期：1989-10-01 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：:Acute necrotizing encephalopathy is a novel disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic selective and symmetric involvement of the thalamus, brain stem, and cerebellum. It usually leaves sequelae. The etiology of acute necrotizing encephalopathy is unknown. We describe here six pat...

journal_title：Journal of child neurology

authors： Yoshikawa H,Watanabe T,Abe T,Oda Y

更新日期：1999-04-01 00:00:00

abstract：:Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced ...

journal_title：Journal of child neurology

authors： Edwards BO Jr,Fischer AQ,Flannery DB

更新日期：1988-10-01 00:00:00

abstract：:Freely available software, derived from the past 2 decades of neuroimaging research, is significantly more flexible for research purposes than presently available clinical tools. Here, we describe and demonstrate the utility of rapidly deployable analysis software to facilitate trainee-driven translational neuroimagin...

journal_title：Journal of child neurology

authors： Cohen A,Kenney-Jung D,Botha H,Tillema JM

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...

journal_title：Journal of child neurology

authors： Weaver MS,Hanna R,Hetzel S,Patterson K,Yuroff A,Sund S,Schultz M,Schroth M,Halanski MA

更新日期：2020-04-01 00:00:00

abstract：:Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lympho...

journal_title：Journal of child neurology

authors： El-Bitar MK,Muwakkit SA,Abboud MR,Sawaya RA,Boustany RM

更新日期：2010-08-01 00:00:00

abstract：:We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings ...

journal_title：Journal of child neurology

authors： Ortiz J,Otero A,Bengoechea O,Gonçalves J,Sousa P,Figols J,Bullón A

更新日期：2008-09-01 00:00:00

abstract：:To determine whether findings on videofluoroscopic swallow studies reveal different patterns of dysphagia between children with central and peripheral neurologic disorders, a retrospective study of 118 videofluoroscopic swallow studies was completed. There were 3 groups: cerebral palsy with only spastic features (n = ...

journal_title：Journal of child neurology

authors： van den Engel-Hoek L,Erasmus CE,van Hulst KC,Arvedson JC,de Groot IJ,de Swart BJ

更新日期：2014-05-01 00:00:00

abstract：:To evaluate the consistency of the Hammersmith Infant Neurological Examination scores of very-low-birth-weight infants at 6 and 12 months of age and its correlation to cranial ultrasonography findings, we designed a prospective study between January 2005 and January 2008, in the tertiary Neonatal Unit of Aristotle Uni...

journal_title：Journal of child neurology

authors： Karagianni P,Rallis D,Kyriakidou M,Tsakalidis C,Pratsiou P,Nikolaidis N

更新日期：2014-11-01 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：:Klonopin (clonazepam; Genentech Inc, South San Francisco, California) oral wafers are benzodiazepines with anticonvulsive and anxiolytic properties. Our institution has been prescribing clonazepam wafers for acute treatment of prolonged seizures for years. Patients' size determined dosing at 0.25, 0.5, 1, or 2 mg wafe...

journal_title：Journal of child neurology

authors： Troester MM,Hastriter EV,Ng YT

更新日期：2010-12-01 00:00:00

abstract：:Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (typ...

journal_title：Journal of child neurology

authors： Swoboda KJ,Kissel JT,Crawford TO,Bromberg MB,Acsadi G,D'Anjou G,Krosschell KJ,Reyna SP,Schroth MK,Scott CB,Simard LR

更新日期：2007-08-01 00:00:00