Abstract：
:We recorded serially brainstem auditory evoked response (BAER) during the neonatal period in term infants who suffered perinatal asphyxia. The amplitudes of BAER components was analysed at 40 dB above BAER threshold of each subject who had a threshold journal_name journal_title authors doi subject pub_date pages issue eissn issn pii journal_volume pub_type
abstract：:The association between measurements of lateral ventricle dilatation determined by serial ultrasound and brain specific creatine-kinase isoenzyme patterns (CK-BB) is studied in 60 very low birth weight preterm neonates of 1,500 g birth weight or 32 weeks gestation or less. The patients were divided into three groups a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80234-8
更新日期：1992-07-01 00:00:00
abstract：BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.04.008
更新日期：2018-09-01 00:00:00
abstract：BACKGROUND:Infections are a common cause of childhood stroke with variable presentation. The current case describes a rare infective cause of venous and arterial stroke in an immunocompetent girl with management implications. CASE DESCRIPTION:A 12 year old girl, presented with history of fever for 10 days, painful swe...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.07.016
更新日期：2021-01-01 00:00:00
abstract：:A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80032-4
更新日期：1989-01-01 00:00:00
abstract：:Eighteen female patients are described with the clinical features of Rett syndrome. Fifteen patients fulfill the criteria established by Hagberg et al hereas three represent clinical variants. Detailed biochemical and neurodiagnostic assessment was conducted in all patients. Reduction in cerebrospinal biogenic amine m...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80063-3
更新日期：1987-01-01 00:00:00
abstract：:Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00129-7
更新日期：2000-08-01 00:00:00
abstract：:MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformat...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.06.004
更新日期：2009-05-01 00:00:00
abstract：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.11.001
更新日期：2018-04-01 00:00:00
abstract：:We report an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(95)00021-3
更新日期：1995-05-01 00:00:00
abstract：:Long-term social prognosis of 120 Japanese patients with West syndrome was surveyed using structured questionnaire at the age of 25.4 years in average. The survey revealed that ADL score remained null in one-fifth of cases; the majority entered in special education course for disabled children; only eleven cases were ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00269-8
更新日期：2001-11-01 00:00:00
abstract：:Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.04.004
更新日期：2005-01-01 00:00:00
abstract：:We evaluated brain lesions in patients with coronary arterial lesions (CAL) as a complication of Kawasaki disease (KD) by magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). Among 47 patients who underwent coronary angiography for the evaluation of CAL due to KD at Kyushu University Hospital fro...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.04.003
更新日期：2006-01-01 00:00:00
abstract：:A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypop...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.07.003
更新日期：2010-08-01 00:00:00
abstract：:Oxidative stress plays an important role in cystic periventricular leukomalacia (PVL). We performed a case-control study of preterm infants delivered at <35 weeks of gestation between January 2003 and December 2006. Patients were stratified into three groups, according to age at which cysts were initially identified: ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.10.008
更新日期：2009-10-01 00:00:00
abstract：:Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00173-x
更新日期：2000-12-01 00:00:00
abstract：:West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present during infancy. Any theory for the pathogenesis of WS has to account f...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00312-6
更新日期：2001-11-01 00:00:00
abstract：BACKGROUND:Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein. In a mouse model of AxD, the pathological astrocyte causes a pronounced immune response. The inflammatory environment in the brain might play an important role in the neuronal...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.07.010
更新日期：2020-01-01 00:00:00
abstract：:Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.04.004
更新日期：2015-11-01 00:00:00
abstract：:We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90003-5
更新日期：1994-11-01 00:00:00
abstract：:To determine whether or not dystrophin really exists in the outer plexiform layer (OPL) of the retina, we studied control and mdx mice, using four kinds of polyclonal antibodies (DMDP-II, 60 kd, 30 kd and DMDP-IV) against dystrophin. Although control OPL showed a positive immunohistochemical reaction with all four ant...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80123-9
更新日期：1991-01-01 00:00:00
abstract：BACKGROUND:Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. METHODS:We studied a consangui...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.04.010
更新日期：2020-09-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.003
更新日期：2018-03-01 00:00:00
abstract：:We describe three patients with the limb pain of complex regional pain syndrome (CRPS) in childhood with autonomic nervous system function involvement. Their autonomic nerve abnormality was non-invasively examined by means of laser doppler flowmetry (LDF) and a sympathetic skin response (SSR) test. In one it was resol...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00174-1
更新日期：2000-10-01 00:00:00
abstract：BACKGROUND:The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.02.002
更新日期：2020-05-01 00:00:00
abstract：:The aim of this study is to investigate predictive factors of post-traumatic syndrome in children with minor head injury. Prospective neurological, electroencephalographic and psychological investigations were performed in 98 children aged 3-13 years within 24 h after the trauma and 4-6 weeks later. Inclusion criteria...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/S0387-7604(03)00110-4
更新日期：2004-03-01 00:00:00
abstract：:Ten girls affected by the Rett syndrome (RS) were treated with bromocriptine in a double blind trial. Two girls showed considerable improvements in gross and fine motor development, in cognitive and social activities, and in their autonomy after four months of treatment. Minimal improvements were seen in one girl, but...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(12)80198-7
更新日期：1990-01-01 00:00:00
abstract：:Glucose transporter type1 (GLUT-1) deficiency may be rare, but it is a preventable cause of severe learning difficulties; and therefore there is an urgency in making an early diagnosis. Suspicions must be roused when intractable seizures occur in infancy. These may be associated with acquired microcephaly and developm...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(03)00058-5
更新日期：2003-10-01 00:00:00
abstract：:Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one h...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2017.01.001
更新日期：2017-05-01 00:00:00
abstract：PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.07.006
更新日期：2021-01-01 00:00:00
abstract：:Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.12.013
更新日期：2009-11-01 00:00:00
