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 chromosome 13q. The degree of tumor involvement within the eye is defined by its group. Grouping was historically done with Reese-Ellsworth System. Recent therapeutic advances have led to the development of a new grouping system, the International Classification of Retinoblastoma (ICRB). In cases of extraocular extension and metastatic disease, the degree of tumor involvement outside of the eye is defined by its stage. Retinoblastoma is staged using the International Retinoblastoma Staging System (IRSS). Children with intraocular retinoblastoma have an excellent overall and ocular survival. In order to avoid the morbidity of enucleation and external beam radiation, treatments for isolated intraocular retinoblastoma have progressively moved toward targeted local modalities. Patients with extraocular involvement, such as those with trilateral retinoblastoma, have a poorer prognosis. The majority of these higher stage patients are now able to be cured with combination chemotherapy.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Ortiz MV,Dunkel IJdoi
10.1177/0883073815587943subject
Has Abstractpub_date
2016-02-01 00:00:00pages
227-36issue
2eissn
0883-0738issn
1708-8283pii
0883073815587943journal_volume
31pub_type
杂志文章,评审abstract:INTRODUCTION:Since its creation, patients on ketogenic diet are told to avoid liquid medications due to theoretical concerns of "hidden" carbohydrates. However, switching from liquid to tablet formulations can be problematic, especially for infants and young children. We theorized that increasing the daily ketogenic ra...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819831179
更新日期:2019-06-01 00:00:00
abstract::Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development of the nervous syste...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500407
更新日期:2000-04-01 00:00:00
abstract::Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. We report a female infant born from healthy consanguineous parents with shortening of limbs, detected during pregnancy by ultrasonography. Immediately after delivery, the baby was admitted to the neonatal intensive care unit because...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700314
更新日期:2002-03-01 00:00:00
abstract::The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Thr...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101601203
更新日期:2001-12-01 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
pub_type: 杂志文章
doi:10.1177/0883073818766985
更新日期:2018-06-01 00:00:00
abstract::The 14 & 6 Hz positive spike phenomenon is generally considered a normal variant finding. Our experience prompted this re-evaluation, which consisted of three parts: In children referred for sleep electroencephalograms (EEGs), 100 children with normal EEG and 100 with 14 & 6--the 14 & 6 correlated with behavior disord...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200207
更新日期:1987-04-01 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
pub_type: 杂志文章
doi:10.1177/0883073819900463
更新日期:2020-04-01 00:00:00
abstract::Intracranial tumors are the most common solid tumors in children. The infratentorial compartment will be the primary site for 60% to 70% of these tumors, including astrocytomas, medulloblastomas, and ependymomas. Several technological advancements have increased our knowledge of the cell biology of pediatric brain tum...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073808321768
更新日期:2008-10-01 00:00:00
abstract::Assessment of upper limb function, kinematic analysis, and dystonia in patients with spastic diplegia cerebral palsy and periventricular leukomalacia. Seven children with spastic diplegia cerebral palsy and 8 controls underwent upper limb kinematics. Movement duration, average and maximum linear velocity, index of cur...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073817722451
更新日期:2017-10-01 00:00:00
abstract::Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. Howeve...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812453495
更新日期:2013-10-01 00:00:00
abstract::The purpose of this study was to determine the etiologic factors, clinical characteristics, seasonal distributions, family history, response to corticosteroid therapy, recurrence and residual paralysis rates, and factors affecting these in pediatric facial palsy. Patients aged <18 years diagnosed with acute peripheral...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819865682
更新日期:2019-12-01 00:00:00
abstract::The currently available scales for quantitative measurement of the severity of childhood dystonia require human observer ratings and provide poor granularity in the scores for individual limbs. We evaluated the use of new-generation high-quality touchscreens (an iPad) according with the Fitts law, which is a mathemati...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813494265
更新日期:2014-11-01 00:00:00
abstract::Isolated cranial nerve paresis in childhood hepatitis A virus infection is rare. The authors report an instance of concomitant right-hand side palatal and abducens palsy, developing in the course of an otherwise uncomplicated hepatitis A virus infection in a 5-year-old girl. The neurological complications were transie...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808323026
更新日期:2009-05-01 00:00:00
abstract::In addition to the typical infantile spasm symptoms, several other symptoms, such as eye movements, have been reported to be associated with infantile spasms, although the relationship between the typical spasms and these other events is not fully understood. Here we present a case with West syndrome. We observed the ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813489169
更新日期:2013-11-01 00:00:00
abstract::Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to r...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738020170010401
更新日期:2002-01-01 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
pub_type: 杂志文章
doi:10.1177/08830738050200011304
更新日期:2005-01-01 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
pub_type: 杂志文章
doi:10.1177/0883073816668113
更新日期:2017-01-01 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
pub_type: 杂志文章
doi:10.1177/08830738050200051501
更新日期:2005-05-01 00:00:00
abstract::The purpose of this survey and record review was to characterize emergency department management of unprovoked seizures and status epilepticus in children in Illinois. The survey was sent to 119 participating emergency departments in the Emergency Medical Services for Children program; responses were received from 103...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814566626
更新日期:2015-10-01 00:00:00
abstract::Lissencephaly is a brain malformation manifested by a smooth cerebral surface and caused by incomplete neuronal migration. Clinical sequellae include minor craniofacial changes (bitemporal hollowing, small jaw), severe mental retardation, and other neurological abnormalities. Patients with classical or type I lissence...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500113
更新日期:1990-01-01 00:00:00
abstract::We reviewed cranial sonographic studies done on 108 normal newborn infants to determine the prevalence and variability in size of the cavum septi pellucidi (CSP). Infants were classified according to gestational age by 2-week intervals. At 24 weeks, only four normal scans were identified. Between 26 and 34 weeks, ten ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389200700106
更新日期:1992-01-01 00:00:00
abstract::Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820901407
更新日期:2020-05-01 00:00:00
abstract::Extremely low birth weight premature infants are at risk for poor neurodevelopmental outcome. Postnatal dexamethasone has often been used in premature infants to prevent or treat bronchopulmonary dysplasia, and this drug is thought by some to affect neurodevelopmental outcome. We retrospectively examined the effect of...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807309232
更新日期:2008-04-01 00:00:00
abstract::Nonconvulsive status epilepticus is a prolonged and continuous state of increased unawareness without overt motor seizures linked with repetitive generalized epileptic discharges. In children, it may occur de novo but more commonly may complicate a preexisting epileptic disorder. We report on a 2-year-old female who p...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600310
更新日期:2001-03-01 00:00:00
abstract::Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks. Abdominopelvic magnetic resonance imaging (MRI) disclo...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812461946
更新日期:2014-01-01 00:00:00
abstract::MECP2 duplication syndrome is an X-linked genomic disorder that is characterized by infantile hypotonia, intellectual disability, and recurrent respiratory infections. Regression affects a subset of individuals, and the etiology of regression has yet to be examined. In this study, alterations in the hypothalamus-pitui...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815585577
更新日期:2016-02-01 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
pub_type: 临床试验,杂志文章
doi:10.1177/088307389901400611
更新日期:1999-06-01 00:00:00
abstract::Maternal intrauterine inflammation has been implicated in the development of periventricular leukomalacia and white matter injury in the neonate. We hypothesized that intrauterine endotoxin administration would lead to microstructural changes in the neonatal rabbit white matter in vivo that could be detected at birth ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809338213
更新日期:2009-09-01 00:00:00
abstract::A patient who has been declared brain dead is considered to be both legally and clinically dead. However, we report 2 pediatric cases in which the patients demonstrated clinical signs of brain stem function that are not recognized or tested in current Canadian or US guidelines. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073817701048
更新日期:2017-06-01 00:00:00
abstract::The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810362762
更新日期:2010-11-01 00:00:00