Abstract：
:The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were reviewed in relation to the age at examination for positive response, degree of response, and coexisting neurologic signs other than ankle clonus. Ninety-seven of them (57.4%) were normal, while the rest had diverse pathologic outcomes: cerebral palsy in 49, mental retardation in 12, borderline intelligence in 9, and motor delay in 2. The neurologic prognoses in infants whose ankle clonus was more than ten beats at any age within the first year of life, and ten or less beats over 8 months of age were always abnormal. In the subjects whose neurologic signs other than ankle clonus appeared within 4 months of age and persisted after 5 months of age, prognoses were generally poor. In infants with such findings, their clinical courses should be closely observed for the possible development of neurologic abnormalities.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Futagi Y,Otani K,Goto Mdoi
10.1016/s0387-7604(96)00069-1subject
Has Abstractpub_date
1997-01-01 00:00:00pages
50-4issue
1eissn
0387-7604issn
1872-7131pii
S0387760496000691journal_volume
19pub_type
杂志文章abstract：AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.08.004
更新日期：2010-08-01 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：:A 1-year-old female with acute bilateral striatal necrosis secondary to exanthema subitum associated with human herpesvirus 6 (HHV-6) infection is reported. The patient was previously healthy. She presented with progressive neurologic signs of oral dyskinesia and involuntary movements, after suffering from exanthema s...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.12.004
更新日期：2005-10-01 00:00:00
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. Cyt...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80096-0
更新日期：1984-01-01 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：:Tourette's syndrome is manifested in a broad spectrum of motor, vocal, and behavioral disturbances. Movement disorders, such as tics, may contribute to the development of cervical myelopathy owing to the effects of involuntary movements on the neck. However, the association of cervical myelopathy with motor tics of th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.05.009
更新日期：2007-03-01 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：:Ohtahara syndrome (OS) is characterized by frequent tonic spasms, with or without clustering, of early onset within a few months of life, and a suppression-burst (S-B) pattern in electroencephalography (EEG). Tonic spasms occur in not only waking but also sleeping state in most cases. Partial seizures are observed in ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00392-8
更新日期：2002-01-01 00:00:00
abstract：:Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.05.010
更新日期：2018-10-01 00:00:00
abstract：:A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80195-1
更新日期：1990-01-01 00:00:00
abstract：:A seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electrom...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80133-1
更新日期：1991-09-01 00:00:00
abstract：:We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnos...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80282-8
更新日期：1992-01-01 00:00:00
abstract：BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.07.003
更新日期：2019-11-01 00:00:00
abstract：:The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of la...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80040-3
更新日期：1989-01-01 00:00:00
abstract：:In this retrospective study, we reviewed the charts and collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of ischemic stroke for the period of January 1996 to July 2006. Ninety-four children were enrolled. Eighty-eight had arterial ischemi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.05.002
更新日期：2008-01-01 00:00:00
abstract：:Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the A...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.10.007
更新日期：2011-08-01 00:00:00
abstract：:We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.02.002
更新日期：2006-09-01 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：:A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(88)80045-7
更新日期：1988-01-01 00:00:00
abstract：BACKGROUND:Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy. METHODS:The study included 13 boys and 17 girls of mean age 9....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.06.004
更新日期：2020-10-01 00:00:00
abstract：:In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(02)00228-0
更新日期：2003-06-01 00:00:00
abstract：:Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.03.015
更新日期：2015-01-01 00:00:00
abstract：:The purpose of this study was (1) to document cases of Tourette syndrome (TS) with comorbidities such as obsessive-compulsive symptoms (OCS) and hyperkinetic disorder (HD), and (2) to examine differences in clinical characteristics between TS patients with OCS and HD and those without these comorbidities. The subjects...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.01.005
更新日期：2010-03-01 00:00:00
abstract：:We report an 11-yr-old girl who visited the outpatient department of Islamabad Children's Hospital with uncontrolled seizures, psychomotor retardation and hand washing movements since early childhood. She had an uneventful peri- and neonatal history with a normal head size at birth and fulfilled the criteria of classi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80045-3
更新日期：1991-11-01 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：:We describe a 14-month-old girl who presented with arterial ischemic stroke due to moyamoya disease, unilateral renal agenesis and external iliac artery stenosis. The association of moyamoya disease with renal agenesis and external iliac artery stenosis has not been described before. This report expands the spectrum o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.09.011
更新日期：2011-08-01 00:00:00
abstract：:The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2003.11.002
更新日期：2004-09-01 00:00:00
abstract：AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developm...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.05.005
更新日期：2020-09-01 00:00:00
abstract：:Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00093-1
更新日期：2002-10-01 00:00:00
abstract：OBJECTIVE:Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.12.010
更新日期：2014-01-01 00:00:00
