Abstract：
:Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though this may not be accurate. Molecular genetic studies hopefully will be the answer. Our cases are the continuum of increasingly reported CMD cases with severe brain manifestations, which come from the area geographically far away from those of original descriptions.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Topaloğlu H,Cila A,Taşdemir AH,Saatçi Idoi
10.1016/0387-7604(95)00047-fsubject
Has Abstractpub_date
1995-07-01 00:00:00pages
271-5issue
4eissn
0387-7604issn
1872-7131pii
038776049500047Fjournal_volume
17pub_type
杂志文章abstract：:Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00006-6
更新日期：1999-04-01 00:00:00
abstract：:Prominent dysphagia is seen among patients with spinal muscular atrophy (SMA) type 2, especially at the late stage of their disease progression. Nasogastric tube feeding and gastrostomy are commonly utilized to maintain their nutritional status. However, choosing a treatment strategy to maintain appropriate nutritiona...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.04.003
更新日期：2007-11-01 00:00:00
abstract：PURPOSE:We attempted to evaluate the ability of 125 preschool and school children with autism spectrum disorder (ASD children) to understand the intentions of those speaking to them using prosody of the voice, by comparing it with that of 119 typically developing children (TDC) and 51 development-age-matched children w...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.001
更新日期：2017-11-01 00:00:00
abstract：:Blink reflex can be elicited by sudden strong auditory stimulation. Using a special transducer wer recorded this reflex which appears as a microvibration of the eyelid, and named it auditory-evoked eyelid microvibration (AMV). As the reflex pathway of AMV exists in the brainstem, AMV is an easy and useful way of knowi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80009-1
更新日期：1984-01-01 00:00:00
abstract：BACKGROUND:Benign epilepsy with centrotemporal spikes is the most common partial epilepsy syndrome in children. The long-term prognosis for children with BECTS is believed to be generally excellent with seizures usually responding well to AEDs. The goal of the present study was to determine the risk factors associated ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.02.008
更新日期：2015-01-01 00:00:00
abstract：:Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calciu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80046-7
更新日期：1979-01-01 00:00:00
abstract：:To clarify the characteristics of the mode of appearance and morphology of epileptiform discharges before the onset of West syndrome (WS). The subjects were 25 infants whose electroencephalograms (EEGs) were recorded before the onset of WS and whose first EEG was recorded before 6 months of corrected age (CA). We exte...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.04.004
更新日期：2007-11-01 00:00:00
abstract：:Forty-eight subjects with Tourette syndrome (M 36, F 12; mean age 11.2 years) and 48 with chronic tic disorder (M 33, F 15; mean age 12.1 years) were recruited in order to study the vertical transmission within families of a vulnerability to tic disorders or to other psychiatric disorders, the role of adverse pre- and...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.09.007
更新日期：2005-08-01 00:00:00
abstract：:The developmental changes in N-acetyl-L-aspartic acid (NAA) were assessed in human fetal and child brains by means of high resolution proton magnetic resonance spectroscopy (MRS). NAA was detected in the cerebral cortex and white matter of fetuses of 16 weeks' gestation. NAA increased gradually from 24 weeks' gestatio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00496-2
更新日期：1997-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.04.002
更新日期：2011-01-01 00:00:00
abstract：:A 15-year-old boy presenting with epilepsy, optic atrophy and intracranial calcifications was diagnosed as having metaphyseal dysplasia by bone X-ray examinations. The patient had no laboratory data suggesting other metabolic or endocrinologic disorders. In addition, CT scans showed unique intracranial calcifications ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00040-5
更新日期：1997-09-01 00:00:00
abstract：:Infantile myositis, observed in the neonatal period, is rare and may be confused with congenital muscular dystrophy. The patient presented here showed evidence of a myopathy with in utero onset with intrauterine growth retardation and decreased fetal movements. A muscle biopsy demonstrated characteristic perifascicula...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(96)00049-6
更新日期：1996-09-01 00:00:00
abstract：:Different phases of brain growth precede maturation as indicated in the developmental course of brain electrical activity. This can be illustrated by EEG and evoked potentials recorded from the scalp from a postmenstrual age of 24 weeks. A description of electrical patterns according to postmenstrual age is valid beca...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(80)80006-4
更新日期：1980-01-01 00:00:00
abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.015
更新日期：2018-02-01 00:00:00
abstract：:Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2019.10.002
更新日期：2020-02-01 00:00:00
abstract：:In order to evaluate the criteria for discontinuing neonatal anticonvulsant treatment, 55 newborns with seizures have been studied. Clinical and EEG serial examinations were performed: soon after the first seizure, throughout the hospital course, and during the follow-up every 3 months until a year, and every 6 months...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80057-6
更新日期：1983-01-01 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：: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：:We studied the relationship between theophylline and memory/learning using an elevated plus-maze test and measuring spontaneous locomotor activity in developing mice. There were no significant differences in transfer latency (TL) in 21-, 30- and 42-day-old mice in the acquisition trial, but theophylline significantly ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2003.12.008
更新日期：2004-10-01 00:00:00
abstract：:The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(02)00003-7
更新日期：2002-04-01 00:00:00
abstract：:The aim of this research was to compare the Strengths and Difficulties Questionnaire (SDQ) scores and subscale scores in children with high-functioning autism spectrum disorder (HFASD) and attention-deficit/hyperactivity disorder (AD/HD), and also to clarify the differences between parent- and teacher-assessed SDQ sco...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.009
更新日期：2010-09-01 00:00:00
abstract：:A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopath...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00085-6
更新日期：2000-01-01 00:00:00
abstract：:Glutamic acid decarboxylase (GAD) activity in the cerebrospinal fluid (CSF) of normal infants (n:14) and children (n:28) was determined by measuring the amount of 14CO2 released from L-[1-14C]-glutamic acid. The mean GAD activity in CSF of infants and children was 5.2 +/- 2.5 pmol CO2 formed/hr/ml. Dividing these subj...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80079-5
更新日期：1983-01-01 00:00:00
abstract：:The aim of this study is to clarify the characteristics of ictal EEG findings of neonatal seizures in preterm infants. Seizures associated with ictal EEG changes were recognized in nine infants with gestational age of less than 37 weeks. Propagation, migration, shifting, changes in morphology of ictal EEG discharges w...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.08.011
更新日期：2008-04-01 00:00:00
abstract：:The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multip...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00557-8
更新日期：1997-04-01 00:00:00
abstract：PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.02.004
更新日期：2013-09-01 00:00:00
abstract：:Event-related potential (ERP) studies with infants are often limited by a small number of measurements. We introduce a weighted general linear mixed model analysis with a time-varying covariate, which allows for the efficient analysis of all available event-related potential data of infants. This method allows control...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.001
更新日期：2010-04-01 00:00:00
abstract：:Neural stem cells (NSCs)of the central nervous system (CNS) have recently received a great deal of attention and interest for their therapeutic potential for neurological disorders. NSCs are defined as CNS progenitor cells that have the capacity for self-renewal and multipotent potential to become neurons or glial cel...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2006.07.012
更新日期：2007-05-01 00:00:00
abstract：BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.08.003
更新日期：2019-02-01 00:00:00
abstract：:Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studie...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.09.003
更新日期：2006-05-01 00:00:00
