Abstract：
:Somatomotor cortex of mice with microcephaly induced by DNA polymerase inhibitor cytosine arabinoside (Ara-C), has been studied with a modified Golgi-Cox staining and a HRP retrograde tracing method. Microcephalic mice were prepared by prenatal injections of cytosine arabinoside on days 13.5 and 14.5 of pregnancy. Cytoarchitectonically, the cerebral cortices of adult microcephalic mice are characterized by atypical pyramidal cells with abnormal dendrites and irregular patterns of cellular lamination. Semiquantitative analyses of the abnormality of dendrites in Golgi-Cox preparation indicate that both the degree and direction of ramification are severely affected in Ara-C treated mice. In adult control cerebrum, original neurons of corticospinal tract labeled after HRP injection into the lumbar cord were situated in layer V. In the microcephalic brains, however, HRP labeled neurons, some of which had abnormal polarity, were scattered throughout all layers. This HRP study for corticospinal tract neurons also confirms the irregular pattern of the cortex in which only three layers are recognized.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ohno Mdoi
10.1016/s0387-7604(84)80096-0subject
Has Abstractpub_date
1984-01-01 00:00:00pages
528-38issue
6eissn
0387-7604issn
1872-7131pii
S0387-7604(84)80096-0journal_volume
6pub_type
杂志文章abstract：:Coeliac disease, epilepsy and cerebral calcifications (CEC) syndrome is a rare clinical condition. One hundred and seventy-one patients have been reported in the literature. Patients are mostly from Italy, Spain, and Argentina, suggesting a geographically restricted condition. Epilepsy is more frequently characterized...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2004.05.003
更新日期：2005-04-01 00:00:00
abstract：:Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.01.009
更新日期：2005-08-01 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:Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.08.012
更新日期：2020-01-01 00:00:00
abstract：:The incidence of West syndrome (WS) was determined by a search of reports of electroencephalograms (EEG) recorded in 1998 and 1999 in all public hospitals in Singapore. Amongst records of patients born in 1998, nine were found with EEG features of hypsarrhythmia or modified hypsarrhythmia with onset of seizures betwee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00277-7
更新日期：2001-11-01 00:00:00
abstract：:Recent advances in modern technologies have enabled us to investigate higher brain functions non-invasively in human subjects. These techniques include topographic analysis of the scalp-recorded electric potentials, recording of the magnetic field generated from the brain, measurement of regional cerebral blood flow c...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(93)90081-i
更新日期：1993-11-01 00:00:00
abstract：:This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery ima...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.08.004
更新日期：2013-06-01 00:00:00
abstract：:We characterized the neuropsychological status of children with newly diagnosed idiopathic childhood epilepsy and measured differences in IQ between children with different types of epilepsy. The Korean Education Development Institute-Wechsler Intelligence Scale for Children (KEDI-WISC) was administered to 72 patients...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.11.003
更新日期：2011-09-01 00:00:00
abstract：:Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.007
更新日期：2014-02-01 00:00:00
abstract：:3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We repor...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90095-7
更新日期：1994-11-01 00:00:00
abstract：:The abnormal patterns of cerebral convolutions range from severe to small anomalies restricted to tertiary gyri and sulci. Lesions within Glial-Pial barrier were found in examined cases with cortical developmental abnormalities. Anomalies and impaired function of vessels penetrating the cortex from meningeal plexus co...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00215-7
更新日期：2001-07-01 00:00:00
abstract：:From the mass screening EEG, 31 primary school children and 17 junior high school (Jr-HS) students with paroxysmal discharge were chosen. An equal number of children with disorganized patterns, including a few borderline ones, and with normal patterns were selected from the same classes. School performance and behavio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80005-9
更新日期：1983-01-01 00:00:00
abstract：:Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.014
更新日期：2010-01-01 00:00:00
abstract：:Congenital muscular dystrophy (CMD) is a heterogenous group of disorders. In the majority of cases the intelligence is preserved, which comprises the classic "occidental" (type 1) form. This type appears to be prevalent in the west. We report a five-case series in Turkey, confirming its geographical distribution. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80066-x
更新日期：1989-01-01 00:00:00
abstract：:From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80054-x
更新日期：1981-01-01 00:00:00
abstract：:Altered maternal micronutrients (folic acid, vitamin B(12)) are suggested to be at the heart of intra-uterine programming of adult diseases. We have recently described interactions of folic acid, vitamin B(12) and docosahexaenoic acid in one carbon metabolism that is considered to play a key role in regulation oxidati...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.01.002
更新日期：2012-01-01 00:00:00
abstract：:21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an autosomal recessive disorder characterized by impaired synthesis of cortisol from cholesterol by the adrenal cortex. Subclinical involvement of brain white matter has been reported in subjects with congenital adrenal hyperplasia. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.004
更新日期：2010-05-01 00:00:00
abstract：:The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischae...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.10.007
更新日期：2007-07-01 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：PURPOSE:To assess the efficacy of diazepam suppositories at preventing febrile seizure recurrence during a single febrile illness to determine how to treat children with a febrile seizure on presentation at the hospital. METHODS:We studied 203 children with febrile seizures from December 2004 through March 2006. On ad...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/j.braindev.2008.07.010
更新日期：2009-06-01 00:00:00
abstract：:In this study a comparison of the myelination rate in humans in normal and pathologic conditions was made. The progress of myelination was examined on slides stained by the Klüver-Barrera method and evaluated as to four degrees. The prenatal myelination in the brain stem in a group of newborns who died of pregnancy pa...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80328-7
更新日期：1990-01-01 00:00:00
abstract：:Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1980-01-01 00:00:00
abstract：:Compared with DMD cases and non-neuromuscular disease controls, FCMD cases showed a reduction of total gangliosides, and an abnormal, immature ganglioside pattern in the cerebral gray and white matter. However, GM4, which is only found in myelin and oligodendroglia, and is a unique quantitative marker of myelination, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)00114-d
更新日期：1995-01-01 00:00:00
abstract：:Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80117-6
更新日期：1986-01-01 00:00:00
abstract：UNLABELLED:X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. OBJECTIVE:To describe the clinical course of affected male patients from South Brazil betwee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.02.002
更新日期：2010-03-01 00:00:00
abstract：:Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.10.007
更新日期：2006-06-01 00:00:00
abstract：BACKGROUND:Rapid-onset dystonia-parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms. CASE REPORT:We describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She ...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.12.009
更新日期：2021-01-12 00:00:00
abstract：:This review presents 21 cases, found in the literature, of a CNS lesion (a tumor in 19 of them) associated with emaciation, anorexia and several psychic symptoms that had led to the diagnosis of anorexia nervosa (AN). Anorexia and psychic disturbances preceded the neurologic signs and/or the correct diagnosis in all p...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(94)90064-7
更新日期：1994-05-01 00:00:00
abstract：:A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00308-4
更新日期：2001-11-01 00:00:00
abstract：:Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.12.007
更新日期：2017-05-01 00:00:00
