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 encephalopathy and compared it to age-matched controls with normal brain development and adults. In normal controls, the fragile X mental retardation protein expression in cortical gray matter spiked 4-fold during 36-39 gestational weeks compared to the adult, with a concomitant suppression of p70S6K and S6. In encephalopathy cases, the developmental spike of fragile X mental retardation protein was not observed, and fragile X mental retardation protein levels remained significantly lower than in normal controls. Importantly, this fragile X mental retardation protein downregulation was followed by a significant overexpression of p70S6K and S6. These novel findings thus suggest that premature hypoxic-ischemic brain injury can affect the fragile X mental retardation protein/mammalian target of rapamycin pathway, as otherwise observed in inherited syndromes of cognitive disability and autism spectrum disorders.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Lechpammer M,Wintermark P,Merry KM,Jackson MC,Jantzie LL,Jensen FEdoi
10.1177/0883073815596617subject
Has Abstractpub_date
2016-03-01 00:00:00pages
426-32issue
4eissn
0883-0738issn
1708-8283pii
0883073815596617journal_volume
31pub_type
杂志文章abstract::The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and pati...
journal_title:Journal of child neurology
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abstract::We aimed to decrease practice variation in treatment of neonatal status epilepticus by implementing a standardized protocol. Our primary goal was to achieve 80% adherence to the algorithm within 12 months. Secondary outcome measures included serum phenobarbital concentrations, number of patients progressing from seizu...
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abstract::We accumulated 440 cases of intracranial meningiomas in patients under 16 years of age, and another 27 personal. This review confirms the existence of specific clinical features of spontaneous and radiation-induced meningioma in children. In addition, we discuss various points that suggest a more aggressive behavior o...
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pub_type: 杂志文章,评审
doi:10.1177/08830738060210010801
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abstract::We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) dia...
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abstract::Elevation and blur of the optic disc margin with hyperemia and flame hemorrhages are classic features of papilledema that may not be present with mild elevations of the cerebral spinal fluid pressure. In children, the disc can be dramatically elevated with indistinct margins in pseudopapilledema. Children with equivoc...
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journal_title:Journal of child neurology
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abstract::Prenatal ultrasonographic evidence of intracranial mass lesions generally results in a diagnosis of primary glial or primitive neuroectodermal neoplasm. We describe two infants, one who was stillborn at 25 weeks' estimated gestational age and one term infant who was born live and died shortly after birth with large in...
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journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
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更新日期:2013-02-01 00:00:00
abstract::Using resting state functional magnetic resonance imaging (MRI), we aim to understand the neurologic basis of improved function in children with hemiplegic cerebral palsy treated with constraint-induced movement therapy. Eleven children including 4 untreated comparison subjects diagnosed with hemiplegic cerebral palsy...
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doi:10.1177/0883073815588995
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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...
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journal_title:Journal of child neurology
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更新日期:2015-04-01 00:00:00
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